"uuid"	"gene_curie"	"gene_symbol"	"disease_curie"	"disease_title"	"disease_original_curie"	"disease_original_title"	"classification_curie"	"classification_title"	"moi_curie"	"moi_title"	"submitter_curie"	"submitter_title"	"submitted_as_hgnc_id"	"submitted_as_hgnc_symbol"	"submitted_as_disease_id"	"submitted_as_disease_name"	"submitted_as_moi_id"	"submitted_as_moi_name"	"submitted_as_submitter_id"	"submitted_as_submitter_name"	"submitted_as_classification_id"	"submitted_as_classification_name"	"submitted_as_date"	"submitted_as_public_report_url"	"submitted_as_notes"	"submitted_as_pmids"	"submitted_as_assertion_criteria_url"	"submitted_as_submission_id"	"submitted_run_date"
"GENCC_000101-HGNC_10896-OMIM_182212-HP_0000006-GENCC_100001"	"HGNC:10896"	"SKI"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10896"	"SKI"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-30 13:31:56"	""	""	""	"PMID: 28106320"	"1034"	"2020-12-24"
"GENCC_000101-HGNC_16636-OMIM_171300-HP_0000006-GENCC_100003"	"HGNC:16636"	"KIF1B"	"MONDO:0008233"	"pheochromocytoma"	"OMIM:171300"	"{Pheochromocytoma, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16636"	"KIF1B"	"OMIM:171300"	"Pheochromocytoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-12-04 13:30:43"	""	""	""	"PMID: 28106320"	"69237"	"2020-12-24"
"GENCC_000101-HGNC_16636-OMIM_118210-HP_0000006-GENCC_100004"	"HGNC:16636"	"KIF1B"	"MONDO:0007308"	"Charcot-Marie-Tooth disease type 2A1"	"OMIM:118210"	"Charcot-Marie-Tooth disease, type 2A1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16636"	"KIF1B"	"OMIM:118210"	"Charcot-Marie-Tooth disease, type 2A1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-15 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61327"	"2025-01-17"
"GENCC_000101-HGNC_17939-OMIM_617532-HP_0000007-GENCC_100004"	"HGNC:17939"	"SLC45A1"	"MONDO:0044322"	"intellectual developmental disorder with neuropsychiatric features"	"OMIM:617532"	"Intellectual developmental disorder with neuropsychiatric features"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17939"	"SLC45A1"	"OMIM:617532"	"Intellectual developmental disorder with neuropsychiatric features"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-26 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17305"	"2025-01-17"
"GENCC_000101-HGNC_11071-OMIM_616291-HP_0000007-GENCC_100004"	"HGNC:11071"	"SLC9A1"	"MONDO:0014572"	"Lichtenstein-Knorr syndrome"	"OMIM:616291"	"Lichtenstein-Knorr syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11071"	"SLC9A1"	"OMIM:616291"	"Lichtenstein-Knorr syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:32:02"	""	""	""	"PMID: 28106320"	"1705"	"2020-12-24"
"GENCC_000101-HGNC_406-OMIM_239510-HP_0000007-GENCC_100004"	"HGNC:406"	"ALDH4A1"	"MONDO:0009401"	"hyperprolinemia type 2"	"OMIM:239510"	"Hyperprolinemia, type II"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:406"	"ALDH4A1"	"OMIM:239510"	"Hyperprolinemia, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-19 13:29:20"	""	""	""	"PMID: 28106320"	"5173"	"2020-12-24"
"GENCC_000101-HGNC_18806-OMIM_614756-HP_0000006-GENCC_100001"	"HGNC:18806"	"CAMTA1"	"MONDO:0013886"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"OMIM:614756"	"Cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18806"	"CAMTA1"	"OMIM:614756"	"Cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61555"	"2023-08-19"
"GENCC_000101-HGNC_16369-OMIM_606324-HP_0000007-GENCC_100003"	"HGNC:16369"	"PARK7"	"MONDO:0011658"	"autosomal recessive early-onset Parkinson disease 7"	"OMIM:606324"	"Parkinson disease 7, autosomal recessive early-onset"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16369"	"PARK7"	"OMIM:606324"	"Parkinson disease 7, autosomal recessive early-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:17"	""	""	""	"PMID: 28106320"	"88987"	"2020-12-24"
"GENCC_000101-HGNC_4286-OMIM_617524-HP_0000007-GENCC_100004"	"HGNC:4286"	"GJB4"	"MONDO:0033012"	"erythrokeratodermia variabilis et progressiva 2"	"OMIM:617524"	"Erythrokeratodermia variabilis et progressiva 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4286"	"GJB4"	"OMIM:617524"	"Erythrokeratodermia variabilis et progressiva 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-15 13:30:22"	""	""	""	"PMID: 28106320"	"864790"	"2020-12-24"
"GENCC_000101-HGNC_10866-OMIM_615006-HP_0000007-GENCC_100004"	"HGNC:10866"	"ST3GAL3"	"MONDO:0014003"	"developmental and epileptic encephalopathy, 15"	"OMIM:615006"	"Developmental and epileptic encephalopathy 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10866"	"ST3GAL3"	"OMIM:615006"	"Developmental and epileptic encephalopathy 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-28 13:32:07"	""	""	""	"PMID: 28106320"	"1054"	"2020-12-24"
"GENCC_000101-HGNC_30563-OMIM_618437-HP_0000007-GENCC_100003"	"HGNC:30563"	"PARS2"	"MONDO:0032752"	"developmental and epileptic encephalopathy, 75"	"OMIM:618437"	"Developmental and epileptic encephalopathy 75"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30563"	"PARS2"	"OMIM:618437"	"Epileptic encephalopathy, early infantile, 75"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-18 13:31:17"	""	""	""	"PMID: 28106320"	"67349"	"2020-12-24"
"GENCC_000101-HGNC_15469-OMIM_615528-HP_0000007-GENCC_100003"	"HGNC:15469"	"DNAJC6"	"MONDO:0014231"	"juvenile onset Parkinson disease 19A"	"OMIM:615528"	"Parkinson disease 19b, early-onset"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15469"	"DNAJC6"	"OMIM:615528"	"Parkinson disease 19a, juvenile-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:58"	""	""	""	"PMID: 28106320"	"3563"	"2020-12-24"
"GENCC_000104-HGNC_23336-MONDO_0018997-HP_0000006-GENCC_100004"	"HGNC:23336"	"A2ML1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23336"	"A2ML1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"24939586, 25862627, 27942422"	""	"000104.pa48.v1.73.hgnc23336.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_1097-OMIM_613707-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0013380"	"LEOPARD syndrome 3"	"OMIM:613707"	"LEOPARD syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1097"	"BRAF"	"OMIM:613707"	"LEOPARD syndrome 3 613707"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19206169, 21396583"	""	"000104.pa48.v1.73.hgnc1097.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_1097-OMIM_115150-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0007265"	"cardiofaciocutaneous syndrome 1"	"OMIM:115150"	"Cardiofaciocutaneous syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1097"	"BRAF"	"OMIM:115150"	"Cardiofaciocutaneous syndrome 115150"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19206169, 21396583"	""	"000104.pa48.v1.73.hgnc1097.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_1097-OMIM_613706-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0013379"	"Noonan syndrome 7"	"OMIM:613706"	"Noonan syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1097"	"BRAF"	"OMIM:613706"	"Noonan syndrome 7 613706"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19206169, 21396583"	""	"000104.pa48.v1.73.hgnc1097.m1.p3"	"2020-10-08"
"GENCC_000104-HGNC_1541-OMIM_613563-HP_0000006-GENCC_100002"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1541"	"CBL"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"20619386, 20543203, 19571318"	""	"000104.pa48.v1.73.hgnc1541.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_5173-OMIM_218040-HP_0000006-GENCC_100002"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"OMIM:218040"	"Costello syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5173"	"HRAS"	"OMIM:218040"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"16170316, 16969868, 16443854, 21396583"	""	"000104.pa48.v1.73.hgnc5173.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_6407-OMIM_609942-HP_0000006-GENCC_100002"	"HGNC:6407"	"KRAS"	"MONDO:0012371"	"Noonan syndrome 3"	"OMIM:609942"	"Noonan syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6407"	"KRAS"	"OMIM:609942"	"Noonan syndrome 3 609942"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:14"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583"	""	"000104.pa48.v1.73.hgnc6407.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_6407-OMIM_615278-HP_0000006-GENCC_100002"	"HGNC:6407"	"KRAS"	"MONDO:0014112"	"cardiofaciocutaneous syndrome 2"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6407"	"KRAS"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2 615278"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583"	""	"000104.pa48.v1.73.hgnc6407.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_6742-OMIM_616564-HP_0000006-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0014693"	"Noonan syndrome 10"	"OMIM:616564"	"Noonan syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6742"	"LZTR1"	"OMIM:616564"	"Noonan syndrome 10 616564"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"25795793, 29469822"	""	"000104.pa48.v1.73.hgnc6742.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_6742-OMIM_615670-HP_0000006-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0014299"	"LZTR1-related schwannomatosis"	"OMIM:615670"	"{Schwannomatosis-2, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6742"	"LZTR1"	"OMIM:615670"	"Schwannomatosis-2, susceptibility to 615670"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"25795793, 29469822"	""	"000104.pa48.v1.73.hgnc6742.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_6742-OMIM_605275-HP_0000007-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0011531"	"Noonan syndrome 2"	"OMIM:605275"	"Noonan syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6742"	"LZTR1"	"OMIM:605275"	"Noonan syndrome 2, 605275"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"25795793, 29469822"	""	"000104.pa48.v1.73.hgnc6742.m2.p3"	"2020-10-08"
"GENCC_000104-HGNC_6840-OMIM_615279-HP_0000006-GENCC_100002"	"HGNC:6840"	"MAP2K1"	"MONDO:0014113"	"cardiofaciocutaneous syndrome 3"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6840"	"MAP2K1"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583, 23321623"	""	"000104.pa48.v1.73.hgnc6840.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_6840-MONDO_0007893-HP_0000006-GENCC_100002"	"HGNC:6840"	"MAP2K1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6840"	"MAP2K1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583, 23321623"	""	"000104.pa48.v1.73.hgnc6840.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_6842-OMIM_615280-HP_0000006-GENCC_100002"	"HGNC:6842"	"MAP2K2"	"MONDO:0014114"	"cardiofaciocutaneous syndrome 4"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6842"	"MAP2K2"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4 615280"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"21396583, 23379592"	""	"000104.pa48.v1.73.hgnc6842.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_7227-OMIM_618499-HP_0000006-GENCC_100002"	"HGNC:7227"	"MRAS"	"MONDO:0032786"	"Noonan syndrome 11"	"OMIM:618499"	"Noonan syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7227"	"MRAS"	"OMIM:618499"	"Noonan syndrome 11, 618499"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"28289718, 31173466, 31108500, 31173466 "	""	"000104.pa48.v1.73.hgnc7227.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_7765-OMIM_601321-HP_0000006-GENCC_100002"	"HGNC:7765"	"NF1"	"MONDO:0011035"	"neurofibromatosis-Noonan syndrome"	"OMIM:601321"	"Neurofibromatosis-Noonan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7765"	"NF1"	"OMIM:601321"	"Neurofibromatosis-Noonan syndrome 601321"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"16380919, 19845691, 12707950"	""	"000104.pa48.v1.73.hgnc7765.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_7765-OMIM_162200-HP_0000006-GENCC_100002"	"HGNC:7765"	"NF1"	"MONDO:0018975"	"neurofibromatosis type 1"	"OMIM:162200"	"Neurofibromatosis, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7765"	"NF1"	"OMIM:162200"	"NEUROFIBROMATOSIS, TYPE 1 162200"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:31"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:7765.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7989-OMIM_613224-HP_0000006-GENCC_100002"	"HGNC:7989"	"NRAS"	"MONDO:0013186"	"Noonan syndrome 6"	"OMIM:613224"	"Noonan syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7989"	"NRAS"	"OMIM:613224"	"Noonan syndrome 6 613224"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19966803, 19775298"	""	"000104.pa48.v1.73.hgnc7989.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_7989-MONDO_0015280-HP_0000006-GENCC_100002"	"HGNC:7989"	"NRAS"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7989"	"NRAS"	"MONDO:0015280"	"Cardio-Facio-cutanenous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19966803, 19775298"	""	"000104.pa48.v1.73.hgnc7989.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_9282-OMIM_617506-HP_0000006-GENCC_100002"	"HGNC:9282"	"PPP1CB"	"MONDO:0054588"	"Noonan syndrome-like disorder with loose anagen hair 2"	"OMIM:617506"	"Noonan syndrome-like disorder with loose anagen hair 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9282"	"PPP1CB"	"OMIM:617506"	"Noonan syndrome-like disorder with loose anagen hair 2, 617506"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:15"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"27264673, 28211982, 27681385"	""	"000104.pa48.v1.73.hgnc9282.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_9644-OMIM_151100-HP_0000006-GENCC_100002"	"HGNC:9644"	"PTPN11"	"MONDO:0100082"	"LEOPARD syndrome 1"	"OMIM:151100"	"LEOPARD syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9644"	"PTPN11"	"OMIM:151100"	"LEOPARD syndrome 1 151100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17603483, 11704759, 12529711, 12634870, 15384080, 15240615, 16263833, 17497712, 18678287"	""	"000104.pa48.v1.73.hgnc9644.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_9644-OMIM_163950-HP_0000006-GENCC_100002"	"HGNC:9644"	"PTPN11"	"MONDO:0008104"	"Noonan syndrome 1"	"OMIM:163950"	"Noonan syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9644"	"PTPN11"	"OMIM:163950"	"Noonan syndrome 1 163950"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17603483, 11704759, 12529711, 12634870, 15384080, 15240615, 16263833, 17497712, 18678287"	""	"000104.pa48.v1.73.hgnc9644.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_9829-OMIM_611554-HP_0000006-GENCC_100002"	"HGNC:9829"	"RAF1"	"MONDO:0012691"	"LEOPARD syndrome 2"	"OMIM:611554"	"LEOPARD syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9829"	"RAF1"	"OMIM:611554"	"LEOPARD syndrome 2 611554"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17603483, 17603482"	""	"000104.pa48.v1.73.hgnc9829.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_9829-OMIM_611553-HP_0000006-GENCC_100002"	"HGNC:9829"	"RAF1"	"MONDO:0012690"	"Noonan syndrome 5"	"OMIM:611553"	"Noonan syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9829"	"RAF1"	"OMIM:611553"	"Noonan syndrome 5 611553"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17603483, 17603482"	""	"000104.pa48.v1.73.hgnc9829.m1.p2"	"2020-10-08"
"GENCC_000104-HGNC_10023-OMIM_615355-HP_0000006-GENCC_100002"	"HGNC:10023"	"RIT1"	"MONDO:0014143"	"Noonan syndrome 8"	"OMIM:615355"	"Noonan syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10023"	"RIT1"	"OMIM:615355"	"Noonan syndrome 8 615355"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"23791108, 25124994, 24939608"	""	"000104.pa48.v1.73.hgnc10023.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_10447-MONDO_0018997-HP_0000006-GENCC_100003"	"HGNC:10447"	"RRAS"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10447"	"RRAS"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"24705357"	""	"000104.pa48.v1.73.hgnc10447.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_17271-OMIM_618624-HP_0000006-GENCC_100002"	"HGNC:17271"	"RRAS2"	"MONDO:0032839"	"noonan syndrome 12"	"OMIM:618624"	"Noonan syndrome 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17271"	"RRAS2"	"OMIM:618624"	"Noonan syndrome 12, 618624"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"31130282, 31130285"	""	"000104.pa48.v1.73.hgnc17271.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_15454-OMIM_607721-HP_0000006-GENCC_100002"	"HGNC:15454"	"SHOC2"	"MONDO:0054637"	"Noonan syndrome-like disorder with loose anagen hair 1"	"OMIM:607721"	"Noonan syndrome-like with loose anagen hair 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15454"	"SHOC2"	"OMIM:607721"	"Noonan syndrome-like with loose anagen hair 1, 607721"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19684605, 22528146, 23918763"	""	"000104.pa48.v1.73.hgnc15454.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_11187-OMIM_610733-HP_0000006-GENCC_100002"	"HGNC:11187"	"SOS1"	"MONDO:0012547"	"Noonan syndrome 4"	"OMIM:610733"	"Noonan syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11187"	"SOS1"	"OMIM:610733"	"Noonan syndrome 4 610733"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"19438935, 17143285, 17143282, 17586837"	""	"000104.pa48.v1.73.hgnc11187.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_11188-OMIM_616559-HP_0000006-GENCC_100002"	"HGNC:11188"	"SOS2"	"MONDO:0014691"	"Noonan syndrome 9"	"OMIM:616559"	"Noonan syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11188"	"SOS2"	"OMIM:616559"	"Noonan syndrome 9 616559"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"25795793, 26173643"	""	"000104.pa48.v1.73.hgnc11188.m1.p1"	"2020-10-08"
"GENCC_000104-HGNC_20249-OMIM_611431-HP_0000006-GENCC_100002"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"OMIM:611431"	"Legius syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20249"	"SPRED1"	"OMIM:611431"	"Legius syndrome 611431"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-07 20:04:16"	"https://panelapp.genomicsengland.co.uk/panels/48/"	""	"17704776, 19366998, 19443465, 21649642, 21548021"	""	"000104.pa48.v1.73.hgnc20249.m1.p1"	"2020-10-08"
"GENCC_000105-HGNC_31042-MONDO_0024520-HP_0000006-GENCC_100001"	"HGNC:31042"	"GREB1L"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:31042"	"GREB1L"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-30 00:00:00"	""	"The GREB1L gene is located on chromosome 18 at q11.1-11.2 and encodes the GREB1 like retinoic acid receptor coactivator protein, which is involved with retinoic acid signaling and is essential for early metanephros and genital development. GREB1L was first reported in relation to autosomal dominant renal agenesis and hypodysplasia (RHD) in 2017 (28739660; Brophy et al. 2017).  At least seven unique variants including missense and loss-of-function variants have been reported in the literature. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in at least nine probands from three publications (28739660; Brophy et al. 2017; 29100091; Tomasi et al. 2017; 29100090; Sanna-Cherchi et al. 2017). Although segregation was observed in six families, incomplete penetrance was also noted. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease relationship is supported by animal models and expression studies (Tomasi et al. 2017). In summary, GREB1L is definitively associated with autosomal dominant renal agenesis and hypodysplasia (RHD)."	"28739660, 29100090, 29100091, 31424080"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100001"	"2020-10-15"
"GENCC_000105-HGNC_11916-MONDO_0007727-HP_0000006-GENCC_100001"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"familial periodic fever"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-10-01 00:00:00"	""	"The TNFRSF1A gene is located on chromosome 12 at 12p13.31 and encodes the TNF receptor superfamily member 1A protein, which is one of two membrane receptors bound by the proinflammatory cytokine TNF. TNFRSF1A was first reported in relation to familial periodic fever in 1999 (10199409: McDermott et al. 1999). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least 19 unique missense variants have been reported in 20 cases from eight publications (10199409: McDermott et al. 1999; 10902757: Dode et al. 2000; 13130484: Aganna et al. 2003; 16508982: D'Osualdo et al. 2006; 22566169: Jesus et al. 2012; 23322460: Havla et al. 2013; 22343913: Lee et al. 2013; 25888769: Greco et al. 2015). More evidence is available in the literature, but the maximum score for probands with other variant type with some evidence of gene impact (7 pts) has been reached. This gene-disease relationship is supported by the biochemical function of TNFR1 signaling via two opposing pathways that lead to either apoptosis via caspase activation or to cellular survival and inflammation via the activation of NF-κB, functional alteration in patient and non-patient cells demonstrating reduced soluble TNFR1 impaired binding and intracellular signaling downstream of TNFR1, resulting in enhanced production of cytokines and chemokines (17666110: Kimberley et al. 2007; 16684962: Lobito et al. 2006; 20457915: Simon et al. 2010).  In two different knock-in mouse lines with TRAPS-associated variants in TNFRSF1A, TNFR1 accumulated intracellularly and there was enhanced activation of proinflammatory signaling. Heterozygous mice were hypersensitive to lipopolysaccharide (LPS), an endotoxin, which was also observed in TRAPS patient cells (20457915: Simon et al. 2010). In summary, TNFRSF1A is definitively associated with familial periodic fever. This has been repeatedly demonstrated in both research and clinical diagnostic settings, and has been upheld over time."	"10199409, 10902757, 13130484, 16508982, 22566169, 23322460, 22343913, 25888769, 17666110, 20457915, 16684962"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100002"	"2020-10-15"
"GENCC_000105-HGNC_1463-MONDO_0032795-HP_0000006-GENCC_100004"	"HGNC:1463"	"CAMK2G"	"MONDO:0032795"	"intellectual developmental disorder 59"	"MONDO:0032795"	"intellectual developmental disorder 59"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1463"	"CAMK2G"	"MONDO:0032795"	"CAMK2G-related syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-01-28 00:00:00"	""	""	"23033978, 30184290"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100003"	"2020-10-15"
"GENCC_000105-HGNC_15456-MONDO_0032721-HP_0000007-GENCC_100003"	"HGNC:15456"	"MBTPS1"	"MONDO:0032721"	"spondyloepiphyseal dysplasia, kondo-fu type"	"MONDO:0032721"	"spondyloepiphyseal dysplasia, kondo-fu type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:15456"	"MBTPS1"	"MONDO:0032721"	"spondyloepiphyseal dysplasia, kondo-fu type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-09-25 00:00:00"	""	"The MBTPS1 gene is located on chromosome 16 at 16q23.3-q24.1 and encodes membrane bound transcription factor peptidase, site 1. The site-1 protease, which is also referred to as S1P, is ubiquitously expressed in the Golgi and functions in cholesterol homeostasis, collagen trafficking, SREBP activation, lysosome biogenesis, and lysosomal enzyme trafficking. MBTPS1 was first reported in relation to autosomal recessive spondyloepiphyseal dysplasia, kondo-fu type in 2018 (30046013: Kondo et al. 2018). To date, two unique variants, a missense and a stop-gained, have been reported in two probands from two publications (30046013: Kondo et al. 2018; 32857899: Meyer et al. 2020). Clinical features reported in common in these individuals included poor growth, inguinal hernia, protruding ears, kyphosis, skeletal abnormalities involving the chest, and elevated plasma levels of lysosomal enzymes. Additional features observed in at least one of the cases included spondyloepiphyseal dysplasia, scoliosis, skeletal abnormalities involving the feet, motor delay, reduced bone density, failure to thrive with gastronomy tube, cataract, relative macrocephaly, triangular face, and prominent forehead and cheekbones.Evidence supporting this gene-disease relationship includes case-level data and experimental data. Loss of function (LOF) has been implicated as the mechanism of disease. This gene-disease relationship is also supported by strong expression in chondrocytes and skeletal tissue; the gene's functions in cholesterol homeostasis, collagen trafficking, SREBP activation, lysosome biogenesis, and lysosomal enzyme trafficking which are shared with other genes associated with overlapping phenotypes (e.g., MBTPS2, SREBP1, GNPTAB); a compound heterozygous zebrafish LOF mutant that shows skeletal, cartilage, collagen, and lipid abnormalities; morpholino-mediated knockdown in zebrafish that recapitulates the skeletal, chondrocyte, and cartilage abnormalities observed in the mutant; mice with chondrocyte-specific KO show skeletal abnormalities, chondrodysplasia, and signs of collagen abnormalities and ER stress; and patient fibroblasts and chondrocytes from patient iPSC-derived teratomas show defects in collagen trafficking and the unfolded protein response pathway in addition to increases in ER stress, lysosomes, and apoptosis (Schlombs et al. 2003; Patra et al. 2007; Kondo et al. 2018). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. Of note, heterozygous gain of function in this gene has also been implicated in a distinct phenotype in a single case (31070020: Schweitzer et al. 2019); this relationship will be assessed separately. "	"30046013, 32420688, 18025304, 14612568"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100004"	"2020-10-15"
"GENCC_000105-HGNC_7785-MONDO_0032658-HP_0000006-GENCC_100002"	"HGNC:7785"	"NFIB"	"MONDO:0032658"	"macrocephaly, acquired, with impaired intellectual development"	"MONDO:0032658"	"macrocephaly, acquired, with impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7785"	"NFIB"	"MONDO:0032658"	"acquired macrocephaly with impaired intellectual development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-09-25 00:00:00"	""	"The NFIB gene is located on chromosome 9 at 9p23-p22.3 and encodes nuclear factor 1 B, a transcription factor that regulates adenovirus DNA replication and transcription throughout mammalian development. It has been specifically implicated in brain and lung development. NFIB was first reported in association with autosomal dominant acquired macrocephaly with impaired intellectual development in 2018 (30388402: Schanze et al. 2018). In addition to the primary features of intellectual disability and macrocephaly, additional features include motor and speech delay, behavioral abnormalities, corpus callosum abnormalities, seizures, hypotonia, genital anomalies, and other brain malformations. Variants in this gene have been reported in at least eight indviduals from two publications, including four predicted null and four missense variants (30388402: Schanze et al. 2018; 30315573: Kahrizi et al. 2019). Six of the variants occurred de novo, while one was identified in an affected parent-child pair. The maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. This gene-disease relationship is also supported by high expression in developing the brain, particularly in the cortical plate; a shared function as a transcriptional regulator that is shared with members of the same protein family that result in similar, overlapping phenotypes (e.g., NFIX, NFIA); and partial recapitulation of the human phenotype, including macrocephaly and callosal and other brain defects, in conventional and telencephalon-specific knockout mice (15632069: Steele-Perkins et al. 2005; 26021864: Bunt et al. 2015; 30388402: Schanze et al. 2018). In addition, in vitro analyses of patient-identified missense variants demonstrated disrupted transcriptional regulation in a luciferase assay (Schanze et al. 2018). In summary, there is strong evidence to support the relationship between NFIB and acquired macrocephaly with impaired intellectual development, autosomal dominant. Additional reports in humans published three years since the first proposal of the association are needed to reach a definitive classification."	"26021864, 15632069, 30388402, 30315573"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100005"	"2020-10-15"
"GENCC_000105-HGNC_5044-MONDO_0014700-HP_0000006-GENCC_100002"	"HGNC:5044"	"HNRNPK"	"MONDO:0014700"	"Au-Kline syndrome"	"MONDO:0014700"	"Au-Kline syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:5044"	"HNRNPK"	"MONDO:0014700"	"Au-Kline syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-09-25 00:00:00"	""	"The HNRNPK gene is located on chromosome 9 at 9q21.32 and encodes the heterogeneous nuclear ribonucleoprotein K protein, which is one of the major pre-mRNA-binding proteins. HNRNPK was first reported in association with Au Kline syndrome in 2015 (26173930: Au et al. 2015).  Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least eight de novo heterozygous variants have been reported in the literature, including fives loss-of-function variants, two missense variants, and one intron variant predicted to result in an inframe insertion, in six publications (26173930: Au et al. 2015; 26954065: Lange et al. 2016; 28771707: Miyake et al. 2017; 28374925: Dentici et al. 2017; 29904177: Au et al. 2018; 32588992: Yamada et al. 2020). The mechanism for disease is loss-of-function. The hnRNP K protein was shown to be expressed in rat hippocampal neuron and colocalized with VGLUT1 (a presynaptic protein) and PSD-95 (a postsynaptic scaffolding protein), and in mouse leukemic monocyte macrophage RAW264.7 cells, a significant increase in GSK3β-hnRNPK interaction was observed (24990929: Folci et al. 2014; 26638989: Fan et al. 2015). In summary, there is strong evidence to support the relationship between HNRNPK and Au Kline syndrome (autosomal dominant)."	"26173930, 26954065, 28771707, 28374925, 29904177, 32588992, 26638989, 24990929"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100006"	"2020-10-15"
"GENCC_000105-HGNC_16466-MONDO_0007187-HP_0000006-GENCC_100001"	"HGNC:16466"	"SUFU"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16466"	"SUFU"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-08 00:00:00"	""	"The SUFU gene is located on chromosome 10 at 10q24.32 and encodes the suppressor of fused homolog protein, which is a negative regulator for the hedgehog/smoothened signaling pathway. The SUFU gene was first reported in relation to Gorlin syndrome (known as nevoid basal cell carcinoma syndrome) and atypical Gorlin syndrome, in 2009 (19533801; Pastorino et al. 2009). Evidence supporting this gene-disease relationship includes case-level data and experimental data. From a selection of literature, at least seven variants have been reported in a heterozygous state in eight affected individuals in six publications (19533801: Pastorino et al. 2009; 22829011: Kijima et al. 2012; 25403219: Smith et al. 2014; 29892665: Ogden et al. 2018; 29356994: Huq et al. 2018; 31485359: Askaner et al. 2019). The mechanism for disease is loss of function. Experimental evidence demonstrates that a splice donor variant was unable to interact with GLI transcription factors, resulting in activation of SHH pathway target genes (12068298: Taylor et al. 2002; 16459298: Svard et al. 2006). In a mouse model, in which mice were heterozygous for functional Sufu, a skin phenotype similar to Gorlin syndrome was observed (16459298: Svard et al. 2006). In summary, SUFU is definitively associated with autosomal dominant nevoid basal cell carcinoma syndrome."	"19533801, 22829011, 25403219, 29892665, 29356994, 31485359, 12068298, 16459298"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100007"	"2020-10-15"
"GENCC_000105-HGNC_16050-MONDO_0030030-HP_0000006-GENCC_100003"	"HGNC:16050"	"MED12L"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16050"	"MED12L"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-06-16 00:00:00"	""	"MED12L was first reported in relation to autosomal dominant Nizon-Isidor syndrome in 2019 (31155615: Nizon et al. 2019). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least four probands in one publication (31155615: Nizon et al. 2019). The four variants were all predicted loss of function and included a frameshift, a stop gained and two splice variants and at least two occurred de novo. This gene-disease relationship is supported by expression data and protein interaction data; MED12L is a component of the kinase module of the Mediator complex, other subunits of the kinase module have also been implicated in intellectual disability, including MED12, MED13L, MED13 and CDK19 (28778422: Jeronimo et al. 2017). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"31155615, 28778422"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100008"	"2020-10-15"
"GENCC_000105-HGNC_18169-MONDO_0012592-HP_0000007-GENCC_100001"	"HGNC:18169"	"FKBP10"	"MONDO:0012592"	"osteogenesis imperfecta type 11"	"MONDO:0012592"	"osteogenesis imperfecta type 11"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:18169"	"FKBP10"	"MONDO:0012592"	"osteogenesis imperfecta type 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-17 00:00:00"	""	"The FKBP10 gene is located on chromosome 17 at 17q21.2 and encodes the FKBP prolyl isomerase 10 protein, which is a member of the immunophilins group of proteins. FKBP prolyl isomerase 10 protein has peptidyl prolyl cis-trans isomerase activity (PPIase) that accelerates protein folding, and it may also enable collagen folding by acting as a collagen chaperon. FKBP10 was first reported in relation to autosomal recessive osteogenesis imperfecta with or without joint contractures in 2010 (20362275: Alanay et al. (2010). At least six unique loss-of-function variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands from four publications (20362275: Alanay et al. 2010; 21567934: Shaheen et al. 2011; 20839288: Kelley et al. 2011; 27762305: Xu et al. 2017). Segregation was noted in four families but with insufficient evidence to score. More genetic evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease relationship is supported by expression studies and animal models. In summary, FKBP10 is definitively associated with autosomal recessive osteogenesis imperfecta with or without joint contractures.
Lumping and Splitting: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism(s) underlying the disease entities (Marini et al. 2014): Bruck syndrome 1 (MIM:259450) and Osteogenesis imperfecta, type XI (MIM:610968).
"	"20362275, 21567934 , 20839288, 27762305, 24777781"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100009"	"2020-10-15"
"GENCC_000105-HGNC_10597-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:10597"	"SCN9A"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10597"	"SCN9A"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-09-15 00:00:00"	""	""	"7720699, 7479931, 19763161"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100010"	"2020-10-15"
"GENCC_000105-HGNC_18801-MONDO_0014606-HP_0000006-GENCC_100001"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"POGZ-related neurodevelopmental disorders"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-14 00:00:00"	""	"The POGZ gene is located on chromsome 1 at 1q21.3 and encodes the pogo transposable element derived with ZNF domain protein. The complete function of this protein have not yet been characterized, but it is known to play a role in mitosis, including kinetochore assembly and cohesion of sister chromatids. It has also been proposed to function in chromatin remodelling. POGZ was first reported in relation to autosomal dominant neurodevelopmental disorders in 2012 (22495311: Neale et al. 2012). At least 50 unique variants, including frameshift, stop-gained, splice, and missense variants, have been reported in humans (26942287: Stessman et al. 2016). POGZ-related neurodevelopmental disorders include autism spectrum disorder, intellectual disability, and White-Sutton syndrome, which includes additional features of obesity tendency, hypotonia, microcephaly, feeding problems, visual impairment, and characteristic facial features.  Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included seven cases from three publications (25533962: Deciphering Developmental Disorders Study 2015; 26739615: White et al. 2016; 26942287: Stessman et al. 2016). In many cases, variants were confirmed to have occurred de novo. Predicted null or truncating variants are most common, but a smaller number of missense variants have also been reported. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease in haploinsufficiency. This gene-disease relationship is supported by the gene's expression in the brain, where it localizes to neuronal nuclei and chromosomes; disrupted DNA binding activity by a missense variant in vitro; and impaired non-associative learning in a Drosophila knockdown model (27103995: Matsumura et al. 2016; 26942287: Stessman et al. 2016). In summary, POGZ is definitively associated with autosomal dominant POGZ-related neurodevelopmental disorders. This relationship has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time. "	"25533962, 26739615, 26942287, 20562864, 27103995"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100011"	"2020-10-15"
"GENCC_000105-HGNC_3363-MONDO_0014303-HP_0000007-GENCC_100004"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"spastic paraplegia, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-09-14 00:00:00"	""	""	"24482476, 19922813"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100012"	"2020-10-15"
"GENCC_000105-HGNC_3373-MONDO_0019188-HP_0000006-GENCC_100001"	"HGNC:3373"	"EP300"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3373"	"EP300"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-11-07 00:00:00"	""	""	"19353645, 27648933, 15706485, 9590171, 18853439, 19822209"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100013"	"2020-10-15"
"GENCC_000105-HGNC_9801-MONDO_0030913-HP_0000006-GENCC_100002"	"HGNC:9801"	"RAC1"	"MONDO:0030913"	"intellectual disability, autosomal dominant 48"	"MONDO:0030913"	"intellectual disability, autosomal dominant 48"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9801"	"RAC1"	"MONDO:0030913"	"RAC1-related intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong "	"2020-09-10 00:00:00"	""	"The RAC1 gene is located on chromosome 7 at 7p22.1 and encodes the Rac family small GTPase 1 protein, a plasma membrane bound GTPase which is a modulator of the cytoskeleton, involved in the growth and differentiation of many cell types. The RAC1 gene was first reported in relation to autosomal dominant RAC1-related intellectual disability in 2017 (28886345; Reijnders et al. 2017). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Seven missense variants, which occurred de novo, in seven affected individuals were reported by Reijnders et al. 2017. This gene-disease association is supported by experimental data; RAC1 interacts with and is activated by the guanine exchange factor TRIO, variants in TRIO, located within its GEF domain are also associated with an intellectual disability syndrome (28928363: Sadybekov et al. 2017). Similarly, to some pathogenic TRIO variants, the RAC1 Cys18Tyr variant, associated with a severe clinical phenotype, has an inhibitory effect on AMPAR-mediated synaptic transmission and consequently suppresses LTP induction in a rat organotypic hippocampal slice culture model (30042656: Tian et al. 2018). Data from animal models also support the gene disease association; zebrafish overexpressing pathogenic RAC1 variants showed altered neuronal proliferation and head size compared to wildtype and conditional forebrain-specific Rac1-knockout mice (homozygous) recapitulate some key features of the disease including impaired neuronal migration, reduced neuronal proliferation and microcephaly (28886345; Reijnders et al. 2017); 19007770; Chen et al. 2009). In summary, there is strong evidence to support the relationship between RAC1 and RAC1 related intellectual disability (autosomal dominant). Additional clinical reports are needed to reach a definitive classification. "	"28886345, 28928363, 19007770, 30042656"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100015"	"2020-10-15"
"GENCC_000105-HGNC_7882-MONDO_0007318-HP_0000006-GENCC_100003"	"HGNC:7882"	"NOTCH2"	"MONDO:0007318"	"Alagille syndrome"	"MONDO:0007318"	"Alagille syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7882"	"NOTCH2"	"MONDO:0007318"	"Alagille syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	" Moderate"	"2019-05-19 00:00:00"	""	"The NOTCH2 gene is located on chromosome 1 at 1p12 and encodes the notch receptor 2 protein, a single transmembrane domain protein integral to the conserved notch signalling pathway. Notch signalling occurs via cell to cell communication and is involved in determining the cellular fate of diverse cell types, which in turn regulates the homeostatsis of many tissue types. NOTCH2 was first reported in relation to autosomal dominant Alagille syndrome in 2006 (16773578; McDaniell et al. 2006). At least eight unique variants, including seven missense variants and one stop gained variant have been reported. Evidence supporting this gene-disease relationship includes case-level data, and experimental data. Variants in this gene have been reported in at least eight probands in three publications (16773578: McDaniell et al. 2006; 22209762: Kamath et al. 2012; 22488849; Lin et al. 2012). Variants in two cases occurred de novo. Mechanism of disease unclear, where variant level functional data is available, missense variants disrupted the Notch signalling pathway (NSP). This gene-disease relationship is supported by functional and animal model experimental data. The NOTCH1 ligand, JAG1 is associated with autosomal dominant Alagille syndrome (28794168: Siebel et al. 2017). NOTCH 2 is expressed in tissues consistent with the disease phenotype and is localised to cells adjacent to those expressing JAG1 (11171333: McCright et al. 2001) . Mice expressing a hypomorphic Notch2 allele recapitulate some features of Alagille syndrome, as do mice which a heterozygous for both the Notch2 hypomorphic allele and a JAG1 null allele (11171333: McCright et al. 2001; 11861489: McCright et al. 2002). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"16773578, 22209762, 22488849, 11861489, 28794168, 11171333"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100016"	"2020-10-15"
"GENCC_000105-HGNC_30782-MONDO_0030916-HP_0000006-GENCC_100002"	"HGNC:30782"	"NAA15"	"MONDO:0030916"	"intellectual disability, autosomal dominant 50"	"MONDO:0030916"	"intellectual disability, autosomal dominant 50"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30782"	"NAA15"	"MONDO:0030916"	"NAA15-related intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-09-03 00:00:00"	""	""	"28191889, 29656860, 12888564"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100017"	"2020-10-15"
"GENCC_000105-HGNC_11976-MONDO_0011670-HP_0000007-GENCC_100001"	"HGNC:11976"	"TNXB"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11976"	"TNXB"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin X deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-29 00:00:00"	""	"TNXB was first reported in relation to autosomal recessive Ehlers-Danlos syndrome due to tenascin X deficiency in 1997 (9288108: Burch et al. 1997). At least 10 unique variants, both missense and loss of function, have been reported in humans. Evidence ​supporting​​ this gene-disease relationship includes case-level data and experimental data​​. Variants in this gene have been reported in at least seven probands in three publications (26799614: Mackenroth et al. 2015; 27297501: Chen et al. 2016; Demirdas et al. 2017). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease relationship is supported by ​an animal model (11925569: Mao et al. 2002) and rescue experiments (30605228: Aktar et al. 2019). In summary, the TNXB gene​​ is definitively associated with ​autosomal recessive Ehlers-Danlos syndrome due to tenascin X deficiency."	"27582382, 27297501, 26799614, 11925569, 30605228"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100018"	"2020-10-15"
"GENCC_000105-HGNC_13030-MONDO_0012869-HP_0000006-GENCC_100001"	"HGNC:13030"	"ZBTB18"	"MONDO:0012869"	"intellectual disability, autosomal dominant 22"	"MONDO:0012869"	"intellectual disability, autosomal dominant 22"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13030"	"ZBTB18"	"MONDO:0012869"	"ZBTB18-related intellectual disablity, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-08-31 00:00:00"	""	""	"24193349, 27598823, 23020937, 26740508, 25613900, 22095278"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100019"	"2020-10-15"
"GENCC_000105-HGNC_5331-MONDO_0008523-HP_0000006-GENCC_100001"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"MONDO:0008523"	"Blau syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-08-21 00:00:00"	""	"The NOD2 gene is located on chromosome 16 at 16q12.1 and encodes the nucleotide-binding oligomerization domain-containing protein 2, a member of the NOD-like receptor family. NOD2 is a cytoplasmic pattern recognition receptor and plays an important role in regulating the innate immune response. The NOD2 gene was first reported in relation to autosomal dominant Blau syndrome in 2001 (11528384: Miceli-Richard et al. 2001). At least 20 unique missense variants have been reported in clinical cases, with up to 80% of Blau syndrome associated with two recurrent NOD2 variants; p.Arg334Trp and p.Arg334Gln (25182201: Caso et al. 2014). Evidence supporting this gene-disease relationship includes case-level data, segregation data and experimental data. Variants in this gene have been reported in at least nineteen probands in twelve publications (11528384; 15459013; 19116920; 19479837; 28721627; 28721627; 12428248; 17916199; 20084402; 31543536; 31803699; 17207093). Wang et al. (12428248: Wang et al. 2002) performed linkage analysis on ten families with Blau syndrome and reported a combined LOD score of 5.67. De novo variants have also been reported. The mechanism of disease is unknown, in vitro experiments suggest variants lead to a gain of function and ligand independent activation of NOD2 (25093298), however patient cell and mouse model data suggest a downregulation of NOD2 signalling pathways. This gene-disease relationship is supported by data from patient cells which point to a disruption of NOD2 signalling pathways (21296813; 20052476; 20052476; 20052476; 28587749). Mouse models also showed partial recapitulation of aspects of disease (25429073; 21296813). In summary, NOD2 is definitively associated with autosomal dominant Blau syndrome. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time."	"31543536, 31803699, 11528384, 15459013, 19116920, 19479837, 28721627, 28587749, 25429073, 21296813"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100020"	"2020-10-15"
"GENCC_000105-HGNC_18188-MONDO_0008952-HP_0000007-GENCC_100001"	"HGNC:18188"	"TMCO1"	"MONDO:0008952"	"cerebrofaciothoracic dysplasia"	"MONDO:0008952"	"cerebrofaciothoracic dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:18188"	"TMCO1"	"MONDO:0008952"	"TMCO1-related cerebrofaciothoracic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-08-18 00:00:00"	""	""	"30556256, 23320496, 24194475, 24424126, 29682451, 30962442, 27212239"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100021"	"2020-10-15"
"GENCC_000105-HGNC_8127-MONDO_0030907-HP_0001417-GENCC_100003"	"HGNC:8127"	"OGT"	"MONDO:0030907"	"intellectual disability, X-linked 106"	"MONDO:0030907"	"intellectual disability, X-linked 106"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:8127"	"OGT"	"MONDO:0030907"	"OGT-related X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-08-20 00:00:00"	""	""	"28584052, 31296563, 31627256, 28302723, 29769320"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100022"	"2020-10-15"
"GENCC_000105-HGNC_2514-MONDO_0014035-HP_0000006-GENCC_100002"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"CTNNB1-related severe intellectual disability-progressive spastic diplegia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-08-03 00:00:00"	""	"CTNNB1 was first reported in relation to autosomal dominant CTNNB1-related severe intellectual disability-progressive spastic diplegia syndrom in 2012 (23033978: de Ligt et al. 2012). At least six unique loss of function variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level and experimental data. Variants in this gene have been reported in at least six probands from three publications (23033978: de Ligt et al. 2012; 25326669: Kuechler et al. 2015; 27915094: Kharbanda et al. 2017). Only de novo variants have been reported in literature. More evidence is available in the literature, but the maximum score for genetic evidence has been reached (12 pts.). The mechanism for disease is haploinsufficiency. This gene-disease association is supported by an animal model and in vitro functional assays (24614104: Tucci et al. 2014). In summary,  there is strong evidence to support the relationship between CTNNB1 and CTNNB1-related severe intellectual disability-progressive spastic diplegia syndrome (autosomal dominant). Additional experimental evidence is required to reach a definitive classification."	"23033978, 25326669, 27915094, 24614104"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100023"	"2020-10-15"
"GENCC_000105-HGNC_26270-MONDO_0014941-HP_0000007-GENCC_100001"	"HGNC:26270"	"PIEZO2"	"MONDO:0014941"	"arthrogryposis, distal, with impaired proprioception and touch"	"MONDO:0014941"	"arthrogryposis, distal, with impaired proprioception and touch"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:26270"	"PIEZO2"	"MONDO:0014941"	"distal arthrogryposis with impaired proprioception and touch"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-07-28 00:00:00"	""	"The PIEZO2 gene is located on chromosome 18 at p11.22-p11.21 and encodes the piezo type mechanosensitive ion channel component 2 protein, a rapidly adapting mechanically-activated cation channel that is required for touch sensation and proprioception (25471886: Ranade et al. 2014; 26551544: Woo et al. 2014). PIEZO2 was first reported in association with autosomal recessive distal arthrogryposis with impaired proprioception and touch in 2016 (27653382: Chesler et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included eight unique variants reported in seven cases from four publications (27653382: Chesler et al. 2016; 27843126: Delle Vedove et al. 2016; 27607563: Mahmud et al. 2017; 30941898: Yamaguchi et al. 2019). One variant was a missense with experimental evidence of a loss-of-function effect; the remainder were predicted null variants. No segregation evidence was scored, but variants in this gene co-segregated with disease in additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts) has been reached. Biallelic loss of function is implicated as the mechanism of disease. This gene-disease relationship is supported by tissue-specific expression in mechanoreceptors that sense mechanical stimuli relevant to touch sensation and in all types of proprioceptive peripheral endings (20813920: Coste et al. 2010; 25471886: Ranade et al. 2014; 26551544: Woo et al. 2014). Conditional knockout of PIEZO2 in sensory neurons and epidermal Merkel cells causes impaired touch sensation, and conditional knockout in proprioceptors resulted in impaired proprioception and difficulty walking (25471886: Ranade et al. 2014; 26551544: Woo et al. 2014). In summary, PIEZO2 is definitively associated with autosomal recessive distal arthrogryposis with impaired proprioception and touch. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"27653382, 27843126, 27607563, 30941898, 25471886, 26551544"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100024"	"2020-10-15"
"GENCC_000105-HGNC_1392-MONDO_0032657-HP_0000006-GENCC_100002"	"HGNC:1392"	"CACNA1E"	"MONDO:0032657"	"developmental and epileptic encephalopathy, 69"	"MONDO:0032657"	"developmental and epileptic encephalopathy, 69"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1392"	"CACNA1E"	"MONDO:0032657"	"CACNA1E-related developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-07-30 00:00:00"	""	"The CACNA1E gene is located on chromosome 1 at 1q25.3 and encodes calcium voltage-gated channel subunit alpha1 E. This subunit is part of the CaV2.3 calcium channel. CaV2.3 channels are widely expressed throughout the central nervous system and conduct voltage-activated, rapidly inactivating R-type calcium currents, which are used to initiate rapid synaptic transmission. CACNA1E was first reported in relation to autosomal dominant developmental and epileptic encephalopathy in 2018 (30343943: Helbig et al. 2018). At least 14 unique missense variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level and experimental data. Variants in this gene have been reported in at least 30 probands in a single multi-institutional publication (30343943: Helbig et al. 2018). In the majority of cases, variants were demonstrated to have occurred de novo. The reported missense variants are also highly clustered in the cytoplasmic ends of all four S6 transmembrane segments, which line the inner pore of the channel and form the activation gate. The mechanism of disease is gain of function; a small number of cases with predicted null variants of uncertain significance have also been reported (30343943: Helbig et al. 2018). This gene-disease relationship is supported by enriched expression in the brain, a shared biochemical function with another gene, CACNA1A, that is associated with a similar early onset epileptic encephalopathy, and in vitro analyses in a human cell line demonstrating and gain of function effect for four missense variants. In summary, there is strong evidence to support the relationship between CACNA1E and autosomal dominant developmental and epileptic encephalopathy. Additional evidence published three years from the first proposal of the association is needed to reach a definitive classification. "	"30343943, 21139605"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100025"	"2020-10-15"
"GENCC_000105-HGNC_17327-MONDO_0014741-HP_0000006-GENCC_100002"	"HGNC:17327"	"WAC"	"MONDO:0014741"	"DeSanto-Shinawi syndrome due to WAC point mutation"	"MONDO:0014741"	"DeSanto-Shinawi syndrome due to WAC point mutation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17327"	"WAC"	"MONDO:0014741"	"Desanto-Shinawi syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-07-28 00:00:00"	""	"WAC was first reported in relation to autosomal dominant Desanto-Shinawi syndrome in 2014 (25356899: Hamdan et al. 2014). At least six de novo, loss of function unique variants have been reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands from three publications (25356899; 26264232; 26757981). Germline mosaicism has been reported. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. Expression data and an animal model are available, however, there is insufficient information to score either piece of experimental evidence (26757981). In summary, there is strong genetic evidence to support the relationship between WAC and Desanto-Shinawi syndrome, autosomal dominant. Additional functional evidence is needed to reach a definitive classification."	"25356899, 26264232, 26757981"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100026"	"2020-10-15"
"GENCC_000105-HGNC_29853-MONDO_0014995-HP_0000006-GENCC_100002"	"HGNC:29853"	"HECW2"	"MONDO:0014995"	"neurodevelopmental disorder with hypotonia, seizures, and absent language"	"MONDO:0014995"	"neurodevelopmental disorder with hypotonia, seizures, and absent language"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29853"	"HECW2"	"MONDO:0014995"	"HECW2-related neurodevelopmental disorder "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-01-28 00:00:00"	""	"The HECW2 gene is located on chromosome 2 at 2q32.3 and encodes HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. E3 ligases function in the control of ubiquitin-mediated protein degradation. HECW2 also plays a role in the function of neural crest cells by regulating glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. HECW2 was first reported in relation to an autosomal dominant neurodevelopmental disorder in 2016 (27334371: Halvardson et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and limited experimental data. Variants in this gene have been reported in at least eight individuals in three publications (27389779: Berko et al. 2017; 29807643: Ullman et al. 2018; 27334371: Halvardson et al. 2016). At least four unique missense variants have been identified, with at least two recurrent variants noted: p.Arg1191Gln and p.Arg1330Trp. All variants occurred de novo. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease relationship is also supported by limited experimental evidence. Expression is ubiquitous but high in brain (25613900: Uhlén et al. 2015); at least two other HECT domain E3 ubiquitin ligases have also been associated with disease in humans; HECW2 interacts with other protein products associated with related clinical phenotypes (24163370: Lu et al. 2013). In summary, there is strong evidence to support the relationship between HECW2 and an autosomal dominant HECW2-related neurodevelopmental disorder. Additional experimental evidence is needed to reach a definitive classification. "	"27389779, 29807643, 27334371, 24163370, 25613900"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100027"	"2020-10-15"
"GENCC_000105-HGNC_6836-MONDO_0030061-HP_0000006-GENCC_100002"	"HGNC:6836"	"MAP1B"	"MONDO:0030061"	"periventricular nodular heterotopia 9"	"MONDO:0030061"	"periventricular nodular heterotopia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6836"	"MAP1B"	"MONDO:0030061"	"periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-07-24 00:00:00"	""	"MAP1B was first reported in relation to autosomal dominant periventricular nodular heterotopia (PVNH) in 2018 (29738522: Heinzen et al. 2018). At least eight unique loss of function variants have been reported. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in eight probands from three publications (29738522: Heinzen et al. 2018; 30150678: Walters et al. 2018; 31317654: Julca et al. 2019). Variants in this gene segregated with disease in three families, although clinical presentation was variable even within families. Reduced penetrance was noted. The mechanism for disease is heterozygous loss of function variants. This gene-disease relationship is supported by expression studies and an animal model (8577753: Edelmann et al. 1996). In summary, there is strong evidence to support the relationship between MAP1B and periventricular nodular heterotopia (autosomal dominant). Three years must elapse from the first proposal of the association to reach a definitive classification."	"29738522, 30150678, 8577753, 31317654"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100028"	"2020-10-15"
"GENCC_000105-HGNC_13221-MONDO_0014914-HP_0000006-GENCC_100002"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"Dias-Logan syndrome"	"MONDO:0014914"	"Dias-Logan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"BCL11A-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-10-17 00:00:00"	""	"The BCL11A gene is located on chromosome 2 at 2p16.1 and encodes BAF chromatin remodeling complex subunit BCL11A. BCL11A functions as a transcription factor and plays an important role in globin switching by repressing transcription of fetal hemoglobin. It is highly expressed in hemotopoietic cells as well as in the developing cerebral cortex. The BCL11A gene was first reported in relation to autosomal dominant BCL11A-related intellectual disability in 2016 (27453576: Dias et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included eight unique heterozygous variants (three missense, one predicted null, and four predicted premature truncations) identified in eight unrelated probands from four publications (27453576: Dias et al. 2016; 28589569: Yoshida et al. 2017; 28891213: Cai et al. 2017; 28960836: Soblet et al. 2018). All variants occurred de novo. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. This gene-disease relationship is supported by expression in the developing cerebral cortex and hematopoietic cells, functional alteration studies in non-patient cells demonstrating a consistent LOF effect of three missense variants on localization, dimerization, and transcriptional regulatory activity, and a haploinsufficiency mouse model showing microcephaly, narrow skull, behavioral evidence of memory impairment and altered social interactions, and altered transcriptional profiles in the cortex and cerebellum (27453576: Dias et al. 2016). In summary, there is strong evidence to support the relationship between BCL11A and autosomal dominant BCL11A-related intellectual disability. Additional reports in humans published three years from the first proposal of the association are needed to reach a definitive classification."	"27453576, 28589569, 28891213, 28960836, 27453576 "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100029"	"2020-10-15"
"GENCC_000105-HGNC_21684-MONDO_0032836-HP_0000006-GENCC_100001"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-06-25 00:00:00"	""	"ZNF462 was first reported in relation to autosomal dominant Weiss-Kruszka syndrome in 2017 (28513610: Weiss et al. 2017). At least seven unique loss-of-function variants have been reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least seven probands from two publications (28513610: Weiss et al. 2017; 31361404: Kruszka et al. 2019). Majority of the variants were de novo and in one family, a variant in this gene segregated with disease in four additional family members. In one four-generation family. The mechanism for disease is heterozygous, loss of function variants. This gene-disease association is supported by expression studies that demonstrate a higher expression in fetal brain and liver, and varying expression in the brain in different developmental stages of mice. Animal models suggest that ZNF462 plays a crucial role in during vertebrate embryonic development and Zfp462+/− mice recapitulate the clinical presentation in humans (11347906: Nagase et al. 2017; 19111535: Laurent et al. 2009; 27621227: Wang et al. 2017).  In summary, ZNF462 is definitively associated with autosomal dominant ZNF462-related spectrum disorder."	"19111535, 27621227, 28513610, 31361404"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100030"	"2020-10-15"
"GENCC_000105-HGNC_20152-MONDO_0007828-HP_0000006-GENCC_100004"	"HGNC:20152"	"ZFHX2"	"MONDO:0007828"	"indifference to pain, congenital, autosomal dominant"	"MONDO:0007828"	"indifference to pain, congenital, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:20152"	"ZFHX2"	"MONDO:0007828"	"Marsili syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-06-26 00:00:00"	""	""	"29253101"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100031"	"2020-10-15"
"GENCC_000105-HGNC_11041-MONDO_0024237-HP_0000007-GENCC_100003"	"HGNC:11041"	"SLC5A6"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11041"	"SLC5A6"	"MONDO:0024237"	"SLC5A6-related neurodegeneration, infantile-onset, biotin-responsive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-06-02 00:00:00"	""	""	"31754459, 31392107, 9516450, 25809983, 23104561, 29669219"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100032"	"2020-10-15"
"GENCC_000105-HGNC_7618-MONDO_0032934-HP_0000006-GENCC_100002"	"HGNC:7618"	"PPP1R12A"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7618"	"PPP1R12A"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-05-22 00:00:00"	""	"The PPP1R12A gene is located on chromosome 12 at 12q21.2-q21.31 and encodes protein phosphatase 1 regulatory subunit 12A. This protein forms part of myosin phosphatase, an enzyme that plays an important regulatory role in cell morphology and motility. PPP1R12A was first reported in relation to autosomal dominant genitourinary and/or brain malformation syndrome in 2020 (31883643: Hughes et al. 2020). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Twelve unique variants, all of which were predicted null, have been reported in humans (31883643: Hughes et al. 2020). In the majority of cases, the variants were shown to have occurred de novo. The mechanism for disease is haploinsufficiency. This gene-disease relationship is supported by expression in the brain and urogenital system during embryonic development (31883643: Hughes et al. 2020) and overlapping phenotypes observed in C. elegans (10208747: Wissman et al. 1999), Drosophila (12505998: Tan et al. 2003), and zebrafish models (19515695: Weiser et al. 2009). In summary, there is strong evidence to support the relationship between PPP1R12A and autosomal dominant genitourinary and/or brain malformation syndrome. Additional reports in humans published at least three years from the first proposal of the association are needed to reach a definitive classification."	"31883643, 12505998, 10208747, 19515695"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100033"	"2020-10-15"
"GENCC_000105-HGNC_24713-MONDO_0060707-HP_0000006-GENCC_100003"	"HGNC:24713"	"QRICH1"	"MONDO:0060707"	"Ververi-Brady syndrome"	"MONDO:0060707"	"Ververi-Brady syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:24713"	"QRICH1"	"MONDO:0060707"	"Ververi-Brady syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-05-14 00:00:00"	""	""	"28692176, 30281152"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100034"	"2020-10-15"
"GENCC_000105-HGNC_18037-MONDO_0015452-HP_0000006-GENCC_100002"	"HGNC:18037"	"ARID2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18037"	"ARID2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-03-06 00:00:00"	""	"The ARID2 gene is located on chromosome 12 at 12q12 and encodes the AT-rich interaction domain 2 protein, which is subunit of the SWI/SNF chromatin remodeling complex (PBAF). The PBAF complex facilitates transcriptional activation and repression of select genes by chromatin remodeling. ARID2 was first reported in relation to autosomal dominant, Coffin-Siris syndrome in 2015 (26238514: Shang et al. 2015). At least six unique loss-of-function variants have been reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. De novo variants in this gene have been reported in at least six probands from four publications (26238514: Shang et al. 2015; 28124119: Bramswig et al. 2017; 29698805: Gazdagh et al. 2018; 30838730: Khazanchi et al. 2019). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is consistent with haploinsufficiency. This gene-disease relationship is supported by expression studies that demonstrate ubiquitous expression of ARDI2 throughout the developing spinal cord, brain and other embryonic tissues such as heart and liver in mouse,  and biochemical function (26238514: Shang et al. 2015). Additionally, ARID2 is one of the three ARID proteins in SWI/ SNF complex, which is divided into BAF and PBA complex. The BAF complex is important in human brain development and five subunits of the BAF complex are associated with neurobehavioral disorders. In summary, there is strong evidence to support the relationship between ARID2 and Coffin-Siris syndrome, autosomal dominant. Additional experimental evidence is needed to reach a definitive classification."	"26238514, 28124119, 29698805, 30838730"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100035"	"2020-10-15"
"GENCC_000105-HGNC_467-MONDO_0010516-HP_0001417-GENCC_100003"	"HGNC:467"	"AMMECR1"	"MONDO:0010516"	"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"	"MONDO:0010516"	"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:467"	"AMMECR1"	"MONDO:0010516"	"midface hypoplasia hearing impairment elliptocytosis nephrocalcinosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-04-28 00:00:00"	""	""	"29193635, 28089922, 27811305"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100036"	"2020-10-15"
"GENCC_000105-HGNC_8527-MONDO_0009492-HP_0000007-GENCC_100001"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl CoA:3-oxoacid CoA transferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-04-23 00:00:00"	""	""	"18757852, 30799594, 10964512, 21296660, 15669687, 17169596, 28178565 , 21209089"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100037"	"2020-10-15"
"GENCC_000105-HGNC_14896-MONDO_0060496-HP_0000007-GENCC_100002"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-01-15 00:00:00"	""	"The SPTBN4 gene is located on chromosome 19 at 19q13.2 and encodes the spectrin beta, non-erythrocytic 4 protein, one of the spectrin family of proteins. The spectrin beta, non-erythrocytic 4 protein is a scaffold protein that links actin cytoskeleton to the plasma membrane and is important for appropriate localization of specific membrane proteins, including ion channels in axons of neurons. SPTBN4 was first related in relation to an autosomal recessive neurodevelopmental disorder in 2017 (28540413: Knierim et al. 2017). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least seven unrelated individuals in four publications, with variants showing segregation with disease in at least two additional family members (28940097: Anazi et al. 2017; 28540413: Knierim et al. 2017; 29861105: Wang et al. 2018; 31857255: Hausler et al. 2019). At least seven unique variants have been reported, all of which were predicted null. Loss of function appears to be the mechanism of disease. This gene-disease association is supported by mouse and piglet models that recapitulate the human phenotype, displaying hypotonia, tremors, neuropathy, myopathy, and central hearing loss (31850074: Derks et al. 2019; 11528393: Parkinson et al. 2001). Expression is specific and consistent with the neuronal/neuromuscular pathology observed in patients and animal models, with high expression in neurons and enrichment in nodes of Ranvier and axon initial segment (11086001: Berghs et al. 2000). In summary, there is strong evidence to support the relationship between SPTBN4 and autosomal recessive SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness. Additional reports in humans published three years from the first proposal of the association are needed to reach a definitive classification."	"29861105, 31857255, 28940097, 28540413, 11086001, 31850074, 11528393"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100038"	"2020-10-15"
"GENCC_000105-HGNC_19088-MONDO_0030918-HP_0000006-GENCC_100002"	"HGNC:19088"	"ASH1L"	"MONDO:0030918"	"intellectual disability, autosomal dominant 52"	"MONDO:0030918"	"intellectual disability, autosomal dominant 52"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:19088"	"ASH1L"	"MONDO:0030918"	"ASH1L-related intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-09-05 00:00:00"	""	"The ASH1L gene is located on chromosome 1 at 1q22 and encodes the ASH1 like histone lysine methyltransferase protein, which is responsible for methylating Lys-36 of histone H3. ASH1L was first reported in relation to autosomal dominant ASH1L-related intellectual disability in 2012 (23033978: de Ligt et al. 2012). At least six unique de novo variants have been reported, including missense, frameshift, stop-gained variants.  Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands in three publications (23033978: de Ligt et al. 2012; 28191889: Stessman et al. 2017; 29276005: Faundes et al. 2018). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease association is supported by somewhat limited experimental evidence, including expression of ASH1a in the zebrafish brain and during early epiphysial neurogenesis and a null zebrafish model that demonstrates importance of ASH1a in neurogenesis in zebrafish (12702659: Cau and Wilson 2003). In summary, there is strong evidence to support the relationship between ASH1L and autosomal dominant ASH1L-related intellectual disability."	"23033978, 28191889, 29276005, 12702659, "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100039"	"2020-10-15"
"GENCC_000105-HGNC_26837-MONDO_0010310-HP_0001417-GENCC_100001"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"Osteopathia striata with cranial sclerosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-07-20 00:00:00"	""	""	"19079258, 22716240, 27369646, 9327263, 8723089,  20209645, 20950377,  22043478, 17204608, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100135"	"2020-10-15"
"GENCC_000105-HGNC_29007-MONDO_0010509-HP_0001417-GENCC_100003"	"HGNC:29007"	"FRMPD4"	"MONDO:0010509"	"intellectual disability, X-linked 104"	"MONDO:0010509"	"intellectual disability, X-linked 104"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:29007"	"FRMPD4"	"MONDO:0010509"	"FRMPD4-related X-linked intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-04-23 00:00:00"	""	""	"25644381, 29267967,  29267967, 19118189"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100041"	"2020-10-15"
"GENCC_000105-HGNC_2869-MONDO_0032775-HP_0000007-GENCC_100003"	"HGNC:2869"	"DHPS"	"MONDO:0032775"	"neurodevelopmental disorder with seizures and speech and walking impairment"	"MONDO:0032775"	"neurodevelopmental disorder with seizures and speech and walking impairment"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2869"	"DHPS"	"MONDO:0032775"	"DHPS-related neurodevelopmental disorder with seizures and speech and walking impairment"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-04-09 00:00:00"	""	""	"30661771, 17360499, 21850436, "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100042"	"2020-10-15"
"GENCC_000105-HGNC_12766-OMIM_194190-HP_0000006-GENCC_100001"	"HGNC:12766"	"NSD2"	"MONDO:0008684"	"Wolf-Hirschhorn syndrome"	"OMIM:194190"	"Wolf-Hirschhorn syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12766"	"NSD2"	"OMIM:194190"	"NSD2-related Wolf-Hirschhorn syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-04-16 00:00:00"	""	"NSD2 was first reported in relation to autosomal dominant NSD2-Wolf-Hirschhorn syndrome in 2017 (28600779: Monies et al. 2017). At least six unique de novo, loss-of -function variants have been reported in the literature.  Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands from three publications (29892088: Derar et al. 2018; 29760529: Lozier et al. 2018; 31171569: Barrie et al. 2019). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is loss of function (31171569: Barrie et al. 2019). This gene-disease relationship is supported by expression studies, which show that fetal brain contained the most complex pattern of transcripts and is expressed in mouse brain, ganglia, neural tube, jaw, frontal face region, intestinal and lung epithelium, liver, adrenals, and the urogenital system (9618163: Stec et al. 1998). In addition, Whsc1-deficient heterozygote mice present with severe growth and craniofacial defects (19483677: Nimura et al. 2009). In summary, NSD2 is definitively associated with autosomal dominant NSD2-Wolf-Hirschhorn syndrome."	"29892088, 29760529, 31171569, 9618163, 19483677"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100043"	"2020-10-15"
"GENCC_000105-HGNC_18873-MONDO_0014367-HP_0000006-GENCC_100001"	"HGNC:18873"	"IFIH1"	"MONDO:0014367"	"Aicardi-Goutieres syndrome 7"	"MONDO:0014367"	"Aicardi-Goutieres syndrome 7"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18873"	"IFIH1"	"MONDO:0014367"	"Aicardi-Goutieres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-03-04 00:00:00"	""	"The IFIH1 gene is located on chromosome 2 at 2q24.2 and encodes the interferon induced with helicase C domain 1 protein which is associated with innate immunity. This protein identifies and attaches to double stranded RNA from certain viruses, forming a filament which stimulates the induction of interferon and proinflammatory cytokines. The IFIH1 gene was first reported in relation to autosomal dominant Aicardi-Goutieres syndrome in 2014 (24686847: Rice et al. 2014). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least five unique missense variants in this gene have been reported in at least three publications (24686847: Rice et al. 2014; 24995871: Oda et al. 2014; 30219631: Adang et al. 2018). Most variants were confirmed to be de novo; however, in one case the variant was inherited from a clinically asymptomatic father (24686847: Rice et al. 2014). The maximum score for genetic evidence has been reached. This gene-disease relationship is supported by functional alteration in non-patient and patient cells demonstrating disease-associated IFIH1 variants result in excessive interferon signalling, suggesting gain-of-function as the disease mechanism (24686847: Rice et al. 2014). Homozygous knockout mice show impaired interferon signalling in response to picornavirus infection (16625202: Kato et al. 2006). In summary, IFIH1 is definitively associated with Aicardi-Goutieres syndrome. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time. "	"24686847, 24995871, 30219631, 16625202"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100044"	"2020-10-15"
"GENCC_000105-HGNC_30778-OMIM_615074-HP_0000006-GENCC_100002"	"HGNC:30778"	"GATAD2B"	"MONDO:0014034"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"OMIM:615074"	"GAND syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30778"	"GATAD2B"	"OMIM:615074"	"GATAD2B-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-06-12 00:00:00"	""	"The GATAD2B gene is located on chromosome 1 at 1q21.3 and encodes the GATA zinc finger domain containing 2B protein, a transcriptional repressor. GATAD2B is a component of the methyl-CpG-binding protein-1 complex, which is involved in the deacetylation of methylated nucleosomes. GATAD2B was first reported in relation to autosomal dominant intellectual disability in 2013 (23033978: de Ligt et al. 2012). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least seven probands in five publications (23033978: de Ligt et al. 2012; 23644463: Willemsen et al. 2013; 28077840: Luo et al. 2017; 30346093: Rabin et al. 2018; 30482549: Ueda et al. 2019). All cases were heterozygous for predicted loss of function variants, and variants were confirmed or assumed de novo in all cases, although in two cases, the proband’s healthy mother was noted to be low-level mosaic for the variant. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Haploinsufficiency is implicated as the mechanism of disease. This gene-disease relationship is supported by limited animal model data. Pan-neuronal siRNA knockdown (to ~30% of wildtype) of the GATAD2 homolog in drosophila lead to a deficit in habituation, which was used as a measure of intellectual disability (23644463: Willemsen et al. 2013). Knockdown flies also showed evidence of synaptic structure abnormalities in larval neuromuscular junction, implicating a role of the protein in synaptic function. In summary, there is strong evidence to support the relationship between GATAD2B and autosomal dominant intellectual disability. Although the association has been repeated demonstrated in the clinical diagnostic setting, additional experimental evidence is needed to reach a definitive classification. "	"30346093, 23033978, 23644463, 28077840, 30482549"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100045"	"2020-10-15"
"GENCC_000105-HGNC_15766-MONDO_0014379-HP_0000006-GENCC_100001"	"HGNC:15766"	"ADNP"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:15766"	"ADNP"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive "	"2020-02-27 00:00:00"	""	"The ADNP gene is located on chromosome 20 at 20q13.13 and encodes the activity dependent neuroprotector homeobox protein, which regulates gene expression via chromatin remodeling. ADNP was first reported in relation to autosomal dominant ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder in 2014 (24531329: Helsmoortel et al. 2014). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least five unique de novo loss-of-function variants have been reported in probands from three publications (24531329: Helsmoortel et al. 2014; 25057125: Pescosolido et al. 2014; 31029150: Bend et al. 2019). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease relationship is supported by protein interaction with SWI/SNF chromatin remodelling complex subunits, dysregulated gene expression in ADNP knockout mouse embryos, and a heterozygous knockout mouse model that shows strong phenotypic overlap with human patients (17878164: Mandel & Gozes 2007; 17222401: Mandel et al. 2007; 30106381: Hacohen-Kleiman et al. 2018). In summary, ADNP is definitively associated with autosomal dominant ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"24531329, 25057125, 31029150, 17878164, 17222401"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100046"	"2020-10-15"
"GENCC_000105-HGNC_26178-MONDO_0005045-HP_0000006-GENCC_100003"	"HGNC:26178"	"FHOD3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:26178"	"FHOD3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-01-23 00:00:00"	""	"The FHOD3 gene is located on chromosome 18 at 18q12.2 and encodes the formin homology 2 domain containing 3, which is associated with actin organization. The FHOD3 gene was first reported in relation to autosomal dominant hypertrophic cardiomyopathy in 2018 (30442288: Ochoa et al. 2018). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least five unrelated probands in two publications (30442288: Ochoa et al. 2018; 31742804: Huang et al. 2019). Variants in this gene segregated with disease in one large seven-generation family and in multiple nuclear families (30442288: Ochoa et al. 2018). The mechanism of disease has not been clearly defined, but both missense and in-frame deletion variants have been associated with disease (30442288: Ochoa et al. 2018; 31742804: Huang et al. 2019). This gene-disease relationship is supported by expression data in the developing heart and sarcomeres and functional alteration in non-patient cells demonstrating impaired myofibril maintenance and defective polymerization of actin filaments in cardiomyocytes (21149568: Iskratsch et al. 2010; 26848968: Fujimoto et al. 2016). Rescue experiments in cultured cardiomyocytes and a transgenic mouse line also support a role for FHOD3 in the developing sarcomere (19706596: Taniguchi et al. 2009; 26848968: Fujimoto et al. 2016). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"30442288, 31742804, 26848968, 21149568, 19706596 "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100047"	"2020-10-15"
"GENCC_000105-HGNC_11226-MONDO_0011445-HP_0000007-GENCC_100001"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-02-25 00:00:00"	""	""	"18079167, 17322883, 28237315"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100048"	"2020-10-15"
"GENCC_000105-HGNC_17282-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:17282"	"RIMS1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17282"	"RIMS1"	"MONDO:0005258"	"autism spectrum disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-03-04 00:00:00"	""	"The RIMS1  gene is located on chromosome 6 at 6q13 and encodes regulating synaptic membrane exocytosis 1. This protein is a member of the RAS gene superfamily and acts to regulate synaptic vesicle exocytosis, including neurotransmitter release at the active zone. It is highly expressed in the brain, where it also regulates synaptic plasticity. RIMS1 was first reported in association with autism spectrum disorder (autosomal dominant ) in 2012 (22542183, Iossifov et al.). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least six unique variants (three frameshift, one missense, two stop-gained) have been reported in six unrelated individuals from three publications (22542183: Iossifov et al. 2012; 25284784: Dong et al. 2014; 30564305: Guo et al. 2018); three of these variants occurred de novo. Additional variants have been reported, including those inherited from an unaffected parent, but these did not meet scoring criteria. In addition to expression and biochemical function evidence (29891949: Wang et al. 2018; 22031440: Kang et al. 2011), this gene-disease relationship is also supported by animal model data, in that RIMS1alpha knockout mice display deficits in learning and memory (15066271: Powell et al.  2004). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.

MIM603649:Cone-rod dystrophy 7
Of note, this gene-disease association has also been implicated in cone-rod dystrophy. This association will be assessed separately. "	"22542183, 25284784, 30564305, 29891949, 22031440, 15066271"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100050"	"2020-10-15"
"GENCC_000105-HGNC_11183-MONDO_0014936-HP_0000006-GENCC_100001"	"HGNC:11183"	"SON"	"MONDO:0014936"	"ZTTK syndrome"	"MONDO:0014936"	"ZTTK syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11183"	"SON"	"MONDO:0014936"	"ZTTK syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-02-27 00:00:00"	""	""	"25590979, 27256762, 27545680, 27545676, 31056085, 31005274, 27545680 "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100051"	"2020-10-15"
"GENCC_000105-HGNC_1321-MONDO_0032634-HP_0000007-GENCC_100003"	"HGNC:1321"	"TIMMDC1"	"MONDO:0032634"	"mitochondrial complex 1 deficiency, nuclear type 31"	"MONDO:0032634"	"mitochondrial complex 1 deficiency, nuclear type 31"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1321"	"TIMMDC1"	"MONDO:0032634"	"mitochondrial complex I deficiency, nuclear type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate "	"2020-02-24 00:00:00"	""	"The TIMMDC1 gene is located on chromosome 3 at 3q13.33 and encodes the translocase of inner mitochondrial membrane domain containing 1 protein. This protein functions as a membrane-embedded assembly factor for complex I of the mitochondrial respiratory chain. TIMMDC1 was first reported in relation to autosomal recessive mitochondrial complex I deficiency, nuclear type in 2017 (28604674: Kremer et al. 2017). To date, a single deep intronic variant that disrupts splicing has been reported. Evidence supporting this gene-disease relationship includes case-level data and experimental data. The deep intronic variant was reported in a homozygous state in three unrelated individuals of differing ethnicities in a single publication (28604674: Kremer et al. 2017). The variant also segregated with the disease in two additional family members. Loss of function is the mechanism of disease. This gene-disease relationship is also supported by expression data, a role in complex I assembly/function shared with other genes associated with mitochondrial disease, rescue of impaired complex I assembly in patient cells by the expression of WT TIMMDC1, and in vitro evidence that TIMMDC1 depletion in human cells impairs mitochondrial function, including a specific loss of complex I activity, reduced oxygen consumption, disrupted mitochondrial morphology, and reduced complex I assembly (24344204: Guarani et al. 2014; 25613900: Uhlén et al. 2015; 28604674: Kremer et al. 2017). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"28604674, 24344204, 25613900"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100052"	"2020-10-15"
"GENCC_000105-HGNC_22962-MONDO_0014773-HP_0000006-GENCC_100001"	"HGNC:22962"	"MED13L"	"MONDO:0014773"	"cardiac anomalies - developmental delay - facial dysmorphism syndrome"	"MONDO:0014773"	"cardiac anomalies - developmental delay - facial dysmorphism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:22962"	"MED13L"	"MONDO:0014773"	"MED13L-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-02-14 00:00:00"	""	"The MED13L gene is located on chromosome 12 at 12q24.21 and encodes the mediator complex subunit 13L protein. MED13L is part of the CDK8 module of the Mediator complex, which is required for gene transcription by RNA polymerase II (24550107: Yin & Wang (2014). The MED13L gene was first reported in relation to MED13L-related neurodevelopmental disorder in 2013 (23403903: Asadollahi et al. (2013). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least seven variants have been reported in seven cases from three publications, including two frameshift, three nonsense, one missense, and one in-frame deletion (25712080: Cafiero et al. 2015; 29740699: Snijders Blok et al. 2018; 29959045: Tørring et al. 2019). All variants from these cases were confirmed to have occurred de novo. Considerably more case level evidence is available in the literature, but the maximum score for genetic evidence (12 pts) has been reached. The mechanism of disease is haploinsufficiency. This gene-disease relationship is supported by the biochemical function of MED13L as a component of the Mediator complex, which is required for gene transcription by RNA polymerase II (24550107: Yin & Wang 2014). Knockdown of the MED13L zebrafish ortholog med13b resulted in craniofacial, brain, and eye abnormalities, and the zebrafish phenotype could be rescued by co-expression of human MED13L (25137640: Utami et al. 2014). Suppression of MED13L with shRNA in ES-derived human neural progenitor cells that were differentiated into neurons demonstrated that MED13L regulates transcription of many genes, including those in the Wnt and FGF pathways that are critical for craniofacial and brain development (25137640: Utami et al. 2014). In summary, MED13L is definitively associated with MED13L-related neurodevelopmental disorder. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time."	"25712080, 29740699, 29959045, 24550107, 25137640"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100053"	"2020-10-15"
"GENCC_000105-HGNC_11506-MONDO_0010429-HP_0001417-GENCC_100004"	"HGNC:11506"	"SYP"	"MONDO:0010429"	"intellectual disability, X-linked 96"	"MONDO:0010429"	"intellectual disability, X-linked 96"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:11506"	"SYP"	"MONDO:0010429"	"intellectual disability,  X linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-09-30 00:00:00"	""	"The SYP gene is located on chromosome X at Xp11.23 and encodes the synaptophysin protein, which is associated with regulation of synaptic vesicle endocytosis and is the most abundant synaptic vesicle protein by mass, accounting for about 10% of total vesicle protein. Variants in the SYP gene were first reported in relation to X-linked intellectual disability in 2007 (19377476: Tarpey et al. 2009). This study reported two frameshift variants predicted to result in premature truncation and one each of a frameshift variant leading to elongation and a missense variant. The two frameshift variants resulting in premature truncation, showed mislocalization and impaired synaptobrevin II retreival in syp-/- cultured neurons (23966691: Gordon and Cousin, 2013). The missense variant and the frameshift variant leading to elongation only showed  impaired synaptobrevin II retreival. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged thatcontradicts the gene-disease relationship."	"19377476, 23966691"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100054"	"2020-10-15"
"GENCC_000105-HGNC_877-MONDO_0009945-HP_0000007-GENCC_100001"	"HGNC:877"	"ALDH7A1"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:877"	"ALDH7A1"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-02-13 00:00:00"	""	"The ALDH7A1 gene is located on chromosome 5 at 5q23.2 and encodes the aldehyde dehydrogenase 7 family member A1 protein. This enzyme plays a key role in lysine metabolism and may indirectly regulate inhibitory neurotransmission in the brain by affecting pyridoxal 5’-phosphate-dependent synthesis. The ALDH7A1 gene was first reported in relation to autosomal recessive pyridoxine-dependent epilepsy in 2006 (16491085: Mills et al. 2006). Evidence supporting this gene-disease relationship includes case level data and experimental data. From a selection of the literature, at least eight variants, including missense, splicing, stop-gained, and one synonymous with a splicing effect, have been reported in either a homozygous or compound heterozygous state in seven individuals with pyridoxine dependent epilepsy (16491085 Mills et al. 2006; 17721876: Salomons et al. 2007). Considerably more case-level evidence is available in the literature (30043187: Coughlin et al. 2018), but the maximum score for genetic evidence (12 pts) has been reached. The mechanism of disease is homozygous loss of function; missense variants demonstrate an absent or reduced recombinant enzyme activity (22784480: Coulter-Mackie et al. 2012). A zebrafish Aldh7A1 knock out model recapitulates the biochemical deficiency, seizure phenotype, and mechanism of disease, as well as amelioration of disease features with pyridoxine treatment (29061647: Pena et al. 2017). In summary, the ALDH7A1 gene is definitively associated with autosomal recessive pyridoxine dependent epilepsy. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"16491085, 17721876, 22784480, 29061647"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100055"	"2020-10-15"
"GENCC_000105-HGNC_12630-OMIM_616863-HP_0000006-GENCC_100002"	"HGNC:12630"	"USP7"	"MONDO:0014805"	"Hao-Fountain syndrome"	"OMIM:616863"	"Hao-Fountain syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12630"	"USP7"	"OMIM:616863"	"USP7-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-12-10 00:00:00"	""	"The USP7 gene is located on chromosome 16 at 16p13.2 and encodes the ubiquitin-specific protease 7, a deubiquitinating enzyme that is a component of the MAGEL2-USP7-TRIM27 (MUST) complex regulating WASH activity, endosomal actin assembly and protein recycling. USP7 also regulates MDM2-p53 pathway implicated in apoptosis and cell cycle. USP7 was first reported in relation to autosomal dominant USP7-related neurodevelopmental disorder in 2015 (26365382: Hao et al. 2015). At least eight unique de novo variants have been reported, including missense, frameshift, and stop-gained variants. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least eight probands in two publications (26365382: Hao et al. 2015; 30679821: Fountain et al. 2019). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease relationship is supported by protein interaction of USP with MAGE-L2 and TRIM27 to form a ligase complex that regulates WASH-mediated endosomal protein recycling (23452853: Hao et al. 2013) and a cell line with reduced USP7 showed impaired endosomal recycling (26365382: Hao et al. 2015). In summary, there is strong evidence to support the relationship between USP7 and autosomal dominant USP7-related neurodevelopmental disorder. An additional report in humans published three years from the first proposal of the association is needed to reach a definitive classification."	"26365382, 30679821, 23452853"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100056"	"2020-10-15"
"GENCC_000105-HGNC_24502-MONDO_0011435-HP_0000007-GENCC_100001"	"HGNC:24502"	"WDR62"	"MONDO:0011435"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"MONDO:0011435"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:24502"	"WDR62"	"MONDO:0011435"	"autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-05-22 00:00:00"	""	""	" 20729831, 24875059, 27974163"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100057"	"2020-10-15"
"GENCC_000105-HGNC_23595-OMIM_607317-HP_0000007-GENCC_100002"	"HGNC:23595"	"VPS13D"	"MONDO:0011811"	"autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"	"OMIM:607317"	"Spinocerebellar ataxia, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:23595"	"VPS13D"	"OMIM:607317"	"spinocerebellar ataxia, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-02-02 00:00:00"	""	""	"29518281, 29604224, 31876103, 29307555"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100058"	"2020-10-15"
"GENCC_000105-HGNC_13709-MONDO_0032730-HP_0000007-GENCC_100002"	"HGNC:13709"	"DEGS1"	"MONDO:0032730"	"leukodystrophy, hypomyelinating, 18"	"MONDO:0032730"	"leukodystrophy, hypomyelinating, 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13709"	"DEGS1"	"MONDO:0032730"	"leukodystrophy, hypomyelinating"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-10-29 00:00:00"	""	""	"31186544,  30620337, 30620338, 31227640"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100059"	"2020-10-15"
"GENCC_000105-HGNC_11631-MONDO_0032745-HP_0000006-GENCC_100002"	"HGNC:11631"	"TCF20"	"MONDO:0032745"	"developmental delay with variable intellectual impairment and behavioral abnormalities"	"MONDO:0032745"	"developmental delay with variable intellectual impairment and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11631"	"TCF20"	"MONDO:0032745"	"TCF20-associated neurodevelopmental disorders "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-07-28 00:00:00"	""	"The TCF20 gene is located on chromosome 22 at 22q13.2 and encodes the transcription factor 20 protein. TCF20 regulates gene transcription by acting as a coactivaor for a variety of other transcription factors. TCF20 was first associated with autosomal dominant neurodevelopmental disorders in 2014 (25228304: Babbs et al.2014 ). Evidence supporting this gene-disease relationship includes case-level data and limited experimental data. This curation included seven unique variants (five frameshift and two stop-gained) identified in seven unrelated probands from three publications (25228304: Babbs et al. 2014; 27436265: Schäfgen et al. 2016; 30819258: Vetrini et al. 2019). In the majority of reported cases, variants occurred de novo, but rare cases of a variant inherited from an affected parent have been reported. Notably, two independent evaluations demonstrated that the truncated transcripts escape from nonsense-mediated decay. More genetic evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Haploinsufficiency has been suggested as the mechanism for disease. This gene-disease relationship is also supported by expression in the brain and a shared biochemical function with another gene associated with a similar phenotype (RAI1) (30819258: Vetrini et al. 2019). In summary, there is strong evidence to support the relationship between TCF20 and autosomal dominant TCF20-associated neurodevelopmental disorders. Additional experimental evidence is needed to reach a definitive classification. "	"25228304, 27436265, 30819258, 25613900"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100060"	"2020-10-15"
"GENCC_000105-HGNC_3098-OMIM_128100-HP_0000006-GENCC_100001"	"HGNC:3098"	"TOR1A"	"MONDO:0007492"	"early-onset generalized limb-onset dystonia"	"OMIM:128100"	"Dystonia-1, torsion"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3098"	"TOR1A"	"OMIM:128100"	"dystonia-1, torsion"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-09-05 00:00:00"	""	""	"9618171, 11973627, 29801903, 30244176, 19955557, 18477710, 24931141, 29053766, 15548549, 17046090, 15269177"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100061"	"2020-10-15"
"GENCC_000105-HGNC_8621-MONDO_0032821-HP_0000007-GENCC_100003"	"HGNC:8621"	"PAX7"	"MONDO:0032821"	"myopathy, congenital, progressive, with scoliosis"	"MONDO:0032821"	"myopathy, congenital, progressive, with scoliosis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:8621"	"PAX7"	"MONDO:0032821"	"Myopathy, congenital, progressive, with scoliosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-09-18 00:00:00"	""	""	"31092906,  11030621, 24065826, 11030621"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100062"	"2020-10-15"
"GENCC_000105-HGNC_6283-MONDO_0012856-HP_0000006-GENCC_100002"	"HGNC:6283"	"KCNK9"	"MONDO:0012856"	"Birk-Barel syndrome"	"MONDO:0012856"	"Birk-Barel syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6283"	"KCNK9"	"MONDO:0012856"	"Birk-Barel syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-02-06 00:00:00"	""	""	"27151206, 30690205, 18678320, 15178438, 17704508, 24342771, 15781965, 17875609, 23236211"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100063"	"2020-10-15"
"GENCC_000105-HGNC_24682-MONDO_0012177-HP_0000007-GENCC_100001"	"HGNC:24682"	"FLVCR1"	"MONDO:0012177"	"posterior column ataxia-retinitis pigmentosa syndrome"	"MONDO:0012177"	"posterior column ataxia-retinitis pigmentosa syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:24682"	"FLVCR1"	"MONDO:0012177"	"posterior column ataxia-retinitis pigmentosa syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-01-14 00:00:00"	""	"The FLVCR1 gene is located on chromosome 1 at 1q32.3 and encodes the FLVCR heme transporter 1 protein, a member of the major facilitator superfamily of transporter proteins which is specifically involved in the transmembrane transport of cytoplasmic heme. The protein plays a critical role in erythropoiesis by protecting the developing erythroid cells from heme toxicity.  FLVCR1 was first reported in relation to autosomal recesssive posterior column ataxia-retinitis pigmentosa syndrome in 2010 (21070897: Rajadhyaksha et al. 2010). At least 11 unique variants (including missense and loss of function variants) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data and experimental evidence. Variants in this gene have been reported in at least seven probands in three publications (27923065: Chiabrando et al. 2016; 27353947: Tiwari et al. 2016; 30656474: Kuehlewein et al. 2019). Variants in this gene segregated with disease in two families. Clinical variability was noted with affected individuals presenting with either posterior column ataxia with retinitis pigmentosa (PCARP), non-syndromic retinitis pigmentosa, or hereditary sensory and autonomic neuropathy (HSAN). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. It is suggested that the underlying disease mechanism may be  heme overload  (27923065: Chiabrando et al. 2016). This gene-disease relationship is supported by expression studies and in vitro functional assays in patient and non-patient cells (21070897: Rajadhyaksha et al. 2010; 27923065: Chiabrando et al. 2016). In summary, FLVCR1 is definitively associated with autosomal recessive posterior column ataxia-retinitis pigmentosa syndrome."	"27923065, 30656474, 27353947, 21070897"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100064"	"2020-10-15"
"GENCC_000105-HGNC_11842-MONDO_0054837-HP_0000006-GENCC_100002"	"HGNC:11842"	"TLK2"	"MONDO:0054837"	"intellectual disability, autosomal dominant 57"	"MONDO:0054837"	"intellectual disability, autosomal dominant 57"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11842"	"TLK2"	"MONDO:0054837"	"TLK2-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-01-21 00:00:00"	""	""	"27479843, 29861108, 26931568, 29955062, 28708136"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100065"	"2020-10-15"
"GENCC_000105-HGNC_13607-MONDO_0030057-HP_0000006-GENCC_100002"	"HGNC:13607"	"FBXW11"	"MONDO:0030057"	"neurodevelopmental, jaw, eye, and digital syndrome"	"MONDO:0030057"	"neurodevelopmental, jaw, eye, and digital syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13607"	"FBXW11"	"MONDO:0030057"	"FBXW11-related neurodevelopmental, brain, jaw, eye and digital anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-01-24 00:00:00"	""	"The FBXW11 gene is located on chromosome 5 at 5q35.1 and encodes the F-box and WD repeat domain containing 11 protein. This F-box protein functions as part of a ubiquitin ligase complex and is involved in ubiquitin-mediated protein degradation. FBSW11 also participates in the Wnt/β-catenin and Hh signalling pathways, which play critical roles in early embryonic development and tissue patterning. FBXW11 was first reported in relation to autosomal dominant FBXW11-related neurodevelopmental, brain, jaw, eye and digital anomalies in 2019 (31402090: Holt et al. 2019). Evidence supporting this gene-disease relationship includes case-level data and expereimental data. Seven unique heterozygous missense variants in this gene have been reported in seven individuals in a single cross-institutional publication (31402090: Holt et al. 2019). All variants occurred de novo. The maximum score for genetic evidence (12 pts) has been reached. Structural analyses indicated the variants clustered at the surface of the substrate-binding domain of FBXW11 and were predicted to destabilize the protein and/or its interactions, but the mechansim of disease has not yet been definitively determined. This gene-disease relationship is also supported by the gene's role in the Hh and  Wnt/β-catenin signalling pathways, in which multiple genes have been linked to similar clinical phenotypes, tissue expression in the clinically affected systems in both humans and zebrafish, and a zebrafish knockdown model that shows eye, jaw, and pectoral fin anomalies that correlate with the phenotypes observed in humans (31402090: Holt et al. 2019). In summary, there is strong evidence to support the relationship between FBXW11 and autosomal dominant neurodevelopmental, brain, eye, and digit anomalies. Additional reports in humans published three years from the first proposal of the association are needed to reach a definitive classification."	"31402090"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100066"	"2020-10-15"
"GENCC_000105-HGNC_10263-MONDO_0008377-HP_0000006-GENCC_100001"	"HGNC:10263"	"RP1"	"MONDO:0008377"	"retinitis pigmentosa 1"	"MONDO:0008377"	"retinitis pigmentosa 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10263"	"RP1"	"MONDO:0008377"	"retinitis pigmentosa, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-29 00:00:00"	""	""	" 12882812, 10391211, 25698705, 16597330, 29847639, 10484783, 14507858"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100067"	"2020-10-15"
"GENCC_000105-HGNC_9059-MONDO_0013845-HP_0000006-GENCC_100001"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-12-19 00:00:00"	""	"The PLCB4 gene is located on chromosome 20 at 20p12.3-p12.2 and encodes the phospholipase C beta 4 protein. PLCB4 is one of four PLC beta isoforms in humans and functions in the DAG-IP3 cellular signalling pathway. PLCB4 also plays a specific role in craniofacial development  through its role in the endothelin signaling pathway and development of the first and second pharyngeal arches. PLCB4 was first reported in relation to autosomal dominant auriculocondylar syndrome in 2012 (22560091: Rieder et al. 2012). Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. This curation included eight unique variants reported in ten cases from two publications (22560091: Rieder et al. 2012; 23315542: Gordon et al. 2013), including at least 15 segregations in two large four-generation pedigrees. Variants in this gene also segregated in four more members of unrelated families. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reach. Missense variants located in the catalytic domain are the primary variant type recorded, with a hotspot at residue 621, and a dominant negative mechanism has been proposed. This gene-disease relationship is also supported by a shared function (endothelin signaling) with multiple other genes associated with auriculocondylar syndrome as well as evidence of reduced expression of DLX5 and DLX6, which are downstream targets of endothelin signaling and are involved in mandibular patterning, in patient mandibular osteoblasts (24123988: Clouthier et al. 2014;  22560091: Rieder et al. 2012). In summary, PLCB4 is definitively associated with autosomal dominant auriculocondylar syndrome. This relationship has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.

Of note, rare cases of autosomal recessive inheritance associated with loss-of-function variants have been reported; heterozygous carriers of this variant type do not appear to show a phenotype (23315542: Gordon et al. 2013) . Differences between the phenotypes associated with autosomal recessive loss of function and autosomal dominant presumed dominant negative missense variants have been noted in both human and mouse models (19955421: Cheong et al. 2009; 8962098: Jiang et al. 1996; 9305844: Kim et al. 1997). The potential association of the PLCB4 gene with an autosomal recessive loss of function phenotype was not assessed as part of this curation. "	"22560091, 23315542, 24123988, 22560091 "	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100068"	"2020-10-15"
"GENCC_000105-HGNC_24283-MONDO_0030917-HP_0000006-GENCC_100002"	"HGNC:24283"	"KMT5B"	"MONDO:0030917"	"intellectual disability, autosomal dominant 51"	"MONDO:0030917"	"intellectual disability, autosomal dominant 51"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:24283"	"KMT5B"	"MONDO:0030917"	"KMT5B-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-12-10 00:00:00"	""	"The KMT5B gene, which was previously known as SUV420H1, is located on chromosome 11 at 11q13.2 and encodes lysine methyltransferase 5B. Through its role as a histone methyltransferase, KMT5B 'writes' H4K20 methylation marks and regulates transcription. KMT5B was first reported in relation to an autosomal dominant neurodevelopmental disorder in 2017 (28191889: Stessman et al. 2017), although de novo variants had been reported earlier (25363768: Iossifov et al. 2014; 27479843: Lelieveld et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included seven unique variants (four frameshift, one stop-gained, one canonical splice, and one missense) identified in seven cases from three publications (19344873: Firth et al. 2009; 27479843: Lelieveld et al. 2016; 28191889: Stessman et al. 2017). No segregation evidence was available, and five of the variants occurred de novo. The mechanism of disease has not yet been clearly established, but haploinsufficiency has been suggested. This gene-disease relationship is also supported by a shared function with other genes associated with neurodevelopmental disorders, expression in the brain in a temporally and spatially regulated manner that correlates with neurogenesis, and a Drosophila knockdown model that shows impaired habituation in a behavioral assay (28191889: Stessman et al. 2017). In summary, there is strong evidence to support the relationship between KMT5B and autosomal dominant KMT5B-related neurodevelopmental disorder. Additional reports in humans published more than three years since the first proposal are needed to reach a definitive classification."	"27479843, 28191889, 19344873"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100069"	"2020-10-15"
"GENCC_000105-HGNC_4572-MONDO_0030060-HP_0000006-GENCC_100002"	"HGNC:4572"	"GRIA2"	"MONDO:0030060"	"neurodevelopmental disorder with language impairment and behavioral abnormalities"	"MONDO:0030060"	"neurodevelopmental disorder with language impairment and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4572"	"GRIA2"	"MONDO:0030060"	"GRIA2-related neurodevelopmental disorder with language impairment and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-12-12 00:00:00"	""	""	"31300657, 27080385, 8938126, 20439731"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100070"	"2020-10-15"
"GENCC_000105-HGNC_9364-MONDO_0008828-HP_0000007-GENCC_100001"	"HGNC:9364"	"PRG4"	"MONDO:0008828"	"camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"MONDO:0008828"	"camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:9364"	"PRG4"	"MONDO:0008828"	"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-12-05 00:00:00"	""	"The PRG4 gene is located on chromosome 1 at 1q31.1 and encodes the proteoglycan 4 protein, which is lubricating component of the synovial fluid and acts as a boundary lubricant at the cartilage surface. It also has a chondroprotective feature and acts by preventing protein deposition from the synovial fluid onto the cartilage surface. PRG4 was first reported in relation to autosomal recessive, camptodactyly-arthropathy-coxa vara-pericarditis syndrome in 1999 (10545950: Marcelino et al. 1999). At least seven unique loss of function variants have been reported in literature. Evidence supporting this gene-disease relationship includes case-level data, segregation data, experimental data. Variants in this gene have been reported in at least six probands from three publications (10545950: Marcelino et al. 1999; 27224999: Peters et al. 2016; 29397575: Yilmaz et al. 2018). Variants in this gene segregated with disease in three families. One of the families reported 12 affected family members, five of whom were genotyped. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Homozygous loss of function is implicated as the mechanism of disease. This gene-disease association is supported by expression studies and two independent Prg4 -/- mouse modes that recapitulate the human disease (10545950: Marcelino et al. 1999; 15719068: Rhee et al. 2005; 20191580: Coles et al. 2010). In summary, PRG4 is definitively associated with autosomal recessive, camptodactyly-arthropathy-coxa vara-pericarditis syndrome."	"10545950, 27224999, 29397575, 20191580, 15719068"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100071"	"2020-10-15"
"GENCC_000105-HGNC_9119-MONDO_0054785-HP_0000007-GENCC_100003"	"HGNC:9119"	"PMPCB"	"MONDO:0054785"	"multiple mitochondrial dysfunctions syndrome 6"	"MONDO:0054785"	"multiple mitochondrial dysfunctions syndrome 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:9119"	"PMPCB"	"MONDO:0054785"	"PMPCB-related multiple mitochondrial dysfunctions syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-12-10 00:00:00"	""	"The PMPCB gene is located on chromosome 7 at 7q22.1 and encodes the mitochondrial processing beta peptidase, which is the catalytic subunit of mitochondrial processing protease (MPP) and is required for proteolytic processing of mitochondrial proteins. The PMPCB gene was first reported in relation to autosomal recessive PMPCB-related multiple mitochondrial dysfunctions syndrome in 2018 (29576218: Vögtle et al. 2018). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Five missense variants in this gene have been reported in a compound heterozygous or homozygous state in four unrelated probands in one publication (29576218: Vögtle et al. 2018). The clinical phenotype was characterized by neurodegeneration in childhood with cerebellar atrophy. The proposed disease mechanism is that biallelic variants in PMPCB cause defects in MPP proteolytic activity and leads to dysregulation of iron-sulfur (Fe-S) cluster biogenesis. The gene-disease relationship is supported by biochemical function data and functional alteration in yeast and patient cells (25970558: Quiros et al. 2015; 29576218: Vögtle et al. 2018). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. "	"25970558, 29576218"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100072"	"2020-10-15"
"GENCC_000105-HGNC_13478-MONDO_0009485-HP_0000007-GENCC_100001"	"HGNC:13478"	"UBE3B"	"MONDO:0009485"	"oculocerebrofacial syndrome, Kaufman type"	"MONDO:0009485"	"oculocerebrofacial syndrome, Kaufman type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13478"	"UBE3B"	"MONDO:0009485"	"Kaufman oculocerebrofacial syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-12-12 00:00:00"	""	"The UBE3B gene is located on chromosome 12 at 12q24.11 and encodes ubiquitin protein ligase E3B. The UBE3B gene product plays a role in protein degradation by the ubiquitin proteasome system, which helps to regulate protein levels and remove damaged or abnormal proteins. UBE3A was first reported in relation to autosomal recessive Kaufman oculocerebrofacial syndrome in 2012 (23200864: Basel-Vanagaite et al. 2012). Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included eight variants (one missense, one start-lost, two splice-site, two stop-gained, and two frameshift) reported in six unrelated probands in three publications (23200864: Basel-Vanagaite et al. 2012; 23687348: Flex et al. 2013; 25691420: Pedurupillay et al. 2015). Variants in this gene segregated with disease in two additional family members. More evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease relationship is supported by a shared biochemical function (ubiquitin-proteasome system) with at least one other gene associated with an intellectual disability syndrome (UBE3A:Angelman syndrome), expression in the central nervous system and craniofacial structures consistent with the disease, and a homozygous null mouse model that recapitulates diverse clinical features observed in human patients (23200864: Basel-Vanagaite et al. 2012). In summary, UBE3B is definitively associated with autosomal recessive Kaufman oculocerebrofacial syndrome. This relationship has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"23200864, 23687348, 25691420"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100073"	"2020-10-15"
"GENCC_000105-HGNC_4010-MONDO_0004976-HP_0000006-GENCC_100001"	"HGNC:4010"	"FUS"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4010"	"FUS"	"MONDO:0004976"	"Amyotrophic lateral sclerosis, with or without frontotemporal dementia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-11-07 00:00:00"	""	"The FUS gene is located on chromosome 16 at 16p11.2 and encodes the FUS RNA binding protein which is predominantly located in the nucleus and involved in the regulation of many cellular processes, including RNA metabolism, regulation of translation, and stress response. The FUS gene was first reported in relation to autosomal dominant amyotrophic lateral sclerosis, with or without frontotemporal dementia in 2009 (19251627: Kwaitkowski et al. 2009); 19251628: Vance et al. 2009). At least 18 unique missense, stop gained and frameshift variants have been reported in ClinVar. Evidence supporting this gene-disease relationship includes case-level data, segregation data and experimental data. Variants in this gene have been reported in at least ten probands in six publications (19251628: Vance et al. 2009; 20668259: Yan et al. 2010; 20660363: Waibel et al. 2010; 24439481; Calvo et al. 2014; 25457557: Kim et al. 2015; 26362943; Hubers et al. 2015). Vance et al. (2009) reported segregation of disease with a FUS variant in six affected family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease association is supported by studies in patient derived cell lines and at least two transgenic mouse models which recapitulate key features of disease (23867462: Shelkobnikova et al. 2013; 26795035: Lim et al. 2016; 30344044: Lopez Erauskin 2018).  In summary, FUS is definitively associated with autosomal dominant amyotrophic lateral sclerosis, with or without frontotemporal dementia. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time."	"25457557, 24439481, 26362943, 19251628, 20668259, 20660363, 31626953, 26795035, 23867462 , 30344044"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100074"	"2020-10-15"
"GENCC_000105-HGNC_18541-MONDO_0032793-HP_0000006-GENCC_100002"	"HGNC:18541"	"KMT2E"	"MONDO:0032793"	"O'Donnell-Luria-Rodan syndrome"	"MONDO:0032793"	"O'Donnell-Luria-Rodan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18541"	"KMT2E"	"MONDO:0032793"	"KMT2E related neurodevelopmental disorders with or without epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-10-24 00:00:00"	""	""	"3107989, 28188343, 29276005, 22031440"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100075"	"2020-10-15"
"GENCC_000105-HGNC_10582-MONDO_0014246-HP_0000006-GENCC_100008"	"HGNC:10582"	"SCN10A"	"MONDO:0014246"	"episodic pain syndrome, familial, 2"	"MONDO:0014246"	"episodic pain syndrome, familial, 2"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10582"	"SCN10A"	"MONDO:0014246"	"familial episodic pain syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2019-10-17 00:00:00"	""	""	"23115331, 26711856, 27598514, 24006052, 10454712"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100076"	"2020-10-15"
"GENCC_000105-HGNC_7132-MONDO_0011518-HP_0000006-GENCC_100001"	"HGNC:7132"	"KMT2A"	"MONDO:0011518"	"Wiedemann-Steiner syndrome"	"MONDO:0011518"	"Wiedemann-Steiner syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7132"	"KMT2A"	"MONDO:0011518"	"Wiedemann-Steiner syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-10-29 00:00:00"	""	""	"25810209, 22795537, 24818805, 19703992"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100077"	"2020-10-15"
"GENCC_000105-HGNC_13760-MONDO_0033374-HP_0000006-GENCC_100002"	"HGNC:13760"	"CYFIP2"	"MONDO:0033374"	"developmental and epileptic encephalopathy, 65"	"MONDO:0033374"	"developmental and epileptic encephalopathy, 65"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13760"	"CYFIP2"	"MONDO:0033374"	"Epileptic encephalopathy, early infantile"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-10-17 00:00:00"	""	""	" 29534297, 30664714, 11438699, 25432536"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100078"	"2020-10-15"
"GENCC_000105-HGNC_15791-MONDO_0032824-HP_0000006-GENCC_100004"	"HGNC:15791"	"PIGU"	"MONDO:0032824"	"glycosylphosphatidylinositol biosynthesis defect 21"	"MONDO:0032824"	"glycosylphosphatidylinositol biosynthesis defect 21"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:15791"	"PIGU"	"MONDO:0032824"	"PIGU-related glycosylphosphatidylinositol biosynthesis deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-10-07 00:00:00"	""	"The PIGU gene is located on chromosome 20 at 20q11.22 and encodes the phosphatidylinositol glycan anchor biosynthesis class U protein, a ubiquitously expressed protein which is a component of the glycosylphosphatidylinositol (GPI) transamidase complex. The glycosylphosphatidylinositol (GPI) anchor links many types of protein to the cell surface and the GPI transamidase complex couples the GPI anchored proteins (GPI-APs) onto the GPI anchor within the endoplasmic reticulum before transport to the cell surface. GPI-APs mediate a range of cellular processes including cellular signalling, cell adhesion and immune modulation as well as playing key roles in embryogenesis and neurodevelopment. The PIGU gene was first reported in relation to autosomal dominant PIGU-related glycosylphosphatidylinositol biosynthesis deficiency in 2019 (31353022: Knaus et al. 2019). In this report, two missense variants were associated with PIGU-related glycosylphosphatidylinositol biosynthesis deficiency in five individuals from three families. In all cases variants were identified in a homozygous state and caused a reduction in presentation of cell surface GPI anchored proteins, due to decreased GPI transaminase activity (31353022: Knaus et al. 2019). A number of genes associated with biosynthesis of the GPI anchor have been identified, these disorders, collectively known as GPI biosynthesis deficiencies are associated with a clinical spectrum of disease which includes intellectual disability and seizures as the key features (30054924: Bellai-Dussault et al. 2019). Specifically, three further components of the GPI transamidase complex; GPAA1, PIGT and PIGS have all been associated with autosomal recessive glycosylphosphatidylinositol biosynthesis deficiencies (12802054: Hong et al. 2013).  In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"31353022, 12802054, 30054924"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100079"	"2020-10-15"
"GENCC_000105-HGNC_14430-MONDO_0032716-HP_0000007-GENCC_100004"	"HGNC:14430"	"SLC13A3"	"MONDO:0032716"	"leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"MONDO:0032716"	"leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:14430"	"SLC13A3"	"MONDO:0032716"	"leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-09-24 00:00:00"	""	"The SLC13A3 gene was first reported in relation to autosomal recessive leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate in 2019 (30635937: Dewulf et al. 2019). At least three unique variants have been reported in two unrelated individuals with the disease, including one missense variant found in a homozygous state, and another missense variant and a splice region variant found in a compound heterozygous state (30635937: Dewulf et al. 2019). Evidence supporting this gene-disease relationship includes case-level data, case-control data, and experimental data. The mechanism of disease is unknown. This gene-disease relationship is supported by expression studies and in vitro functional assays ( 27053689: Breljak et al. 2016; 30635937: Dewulf et al. 2019). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. "	"30635937, 27053689"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100080"	"2020-10-15"
"GENCC_000105-HGNC_30228-MONDO_0044299-HP_0000007-GENCC_100003"	"HGNC:30228"	"PREPL"	"MONDO:0044299"	"myasthenic syndrome, congenital, 22"	"MONDO:0044299"	"myasthenic syndrome, congenital, 22"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:30228"	"PREPL"	"MONDO:0044299"	"Myasthenic syndrome, congenital,  autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-09-10 00:00:00"	""	"The PREPL gene is located on chromosome 2 at 2p21 and encodes the prolyl endopeptidase like protein, which encodes a putative serine peptidase from the prolyl oligopeptidase family. The protein is ubiquitously expressed with higher levels found in the brain, kidney, and muscle, however, the biological role of the PREPL is yet to be fully elucidated.  PREPL was first reported in relation to autosomal recessive isolated PREPL-related myasthenic syndrome, congenital in 2018 (28726805: Regal et al. 2018). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least six unique variants including deletion, frameshift, and splice variants have been reported in four probands from three publications (28726805: Regal et al. 2018; 29483676: Silva et al. 2018; 29913539: Laugwitz et al. 2018). All variants were found in either a homozygous state or a compound heterozygous state with a second deleterious variant. This gene-disease relationship is supported by expression studies that demonstrate colocalization of PREPL with alpha bungarotoxin within muscle fibers and at the endplates (24610330: Regal et al. 2014) and Prepl knockout mice that recapitulate the key features of the disorder including stunted growth and neonatel hypotonia which resolves over time (24586561: Lone et al. 2014). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. "	"28726805, 29483676, 29913539, 24610330, 24586561"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100081"	"2020-10-15"
"GENCC_000105-HGNC_11022-OMIM_300896-HP_0001417-GENCC_100001"	"HGNC:11022"	"SLC35A2"	"MONDO:0010478"	"SLC35A2-congenital disorder of glycosylation"	"OMIM:300896"	"Congenital disorder of glycosylation, type IIm"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:11022"	"SLC35A2"	"OMIM:300896"	"Congenital disorders of glycosylation, type Iim"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-09-18 00:00:00"	""	"The SLC35A2 gene is located on chromosome X at Xp11.23 and encodes the solute carrier family 35 member A2 protein, which is associated with transporting nucleotide sugars, especially UDP-galactose, from the cytosol into Golgi vesicles. SLC35A2 was first reported in relation to X-linked dominant congenital disorders of glycosylation in 2013 (23561849: Ng et al. 2013). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least six unique variants have been reported in humans, including four loss of function variants, one in-frame deletion, and one missense variant (24115232: Kodera et al. 2013; 31231989: Miyamoto et al. 2019; 30817854: Ng et al. 2019). Patients showed varying degrees of neurological symptoms, particularly epilepsy, developmental delay, and intellectual disability. Other features included hypotonia, microcephaly, abnormal brain imaging results, skeletal abnormalities, facial dysmorphism, and ocular abnormalities (30817854: Ng et al. 2019). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. This gene-disease relationship is supported by the biochemical function of the SLC35A2 protein in transporting nucleotide sugars, especially UDP-galactose, from the cytosol into Golgi vesicles where glycosyltransferases function (11319223: Oelmann et al. 2001). Defects in galactose transport were shown in fibroblasts from ten different patients (30817854: Ng et al. 2019). In summary, the SLC35A2 gene is definitively associated with X-linked dominant congenital disorders of glycosylation."	" 24115232, 31231989, 30817854, 11319223"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100082"	"2020-10-15"
"GENCC_000105-HGNC_26582-MONDO_0014777-HP_0000006-GENCC_100001"	"HGNC:26582"	"UNC80"	"MONDO:0014777"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	"MONDO:0014777"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:26582"	"UNC80"	"MONDO:0014777"	"UNC80-related hypotonia, infantile, with psychomotor retardation and characteristic facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-09-10 00:00:00"	""	"The UNC80 gene is located on chromosome 2 at 2q34 and encodes unc-80 homolog, NALCN channel complex subunit, which is a component of a sodium channel complex that regulates channel activity. UNC80 was first reported in relation to autosomal recessive UNC80-related hypotonia, infantile, with psychomotor retardation and characteristic facies, in 2016 (26708753: Shamseldin et al., 2016; 26708751: Stray-Pedersen et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. This curation included 11 unique variants reported in eight cases from four publications (26708753: Shamseldin et al. 2016; 26708751: Stray-Pedersen et al. 2016; 30167850: Bramswig et al. 2018; 30771478: Kuptanon et al. 2019) One variant was a missense with experimental evidence of a loss-of-function effect; the remainder were predicted null variants. No segregation evidence was scored, but variants in this gene co-segregated with disease in three additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts) has been reached. Homozygous loss of function is implicated as the mechanism of disease. This gene-disease relationship is supported by knockout/knockdown models in C. Elegans and Drosophila, including rescue, as well as demonstration of physical interaction with another gene product associated with a similar phenotype (18336069: Yeh et al. 2008; 24223770: Lear et al. 2013). In summary, UNC80 is definitively associated with autosomal recessive  UNC80-related hypotonia, infantile, with psychomotor retardation and characteristic facies. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"26708753, 26708751, 30167850, 30771478, 24223770, 18336069"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100083"	"2020-10-15"
"GENCC_000105-HGNC_3033-MONDO_0032781-HP_0000006-GENCC_100003"	"HGNC:3033"	"ATN1"	"MONDO:0032781"	"congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"MONDO:0032781"	"congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3033"	"ATN1"	"MONDO:0032781"	"Congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-08-10 00:00:00"	""	"The ATN1 gene is located on chromosome 12 at 12p13.31 and encodes the atrophin1 protein, which is a transcriptional corepressor that regulates development of the brain and other organs. ATN1 was first reported in relation to autosomal dominant congenital hypotonia, epilepsy, developmental delay, and digit abnormalities (CHEDDA) in 2019 (30827498: Palmer et al. 2019). At least eight unique variants, including six missense and two in-frame insertions, have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and limited experimental data. Variants in this gene have been reported in eight probands from a single publication (30827498: Palmer et al. 2019). All variants were heterozygous and occurred de novo. The maximum score for genetic evidence (12 pts.) has been reached, but additional reports in humans are needed to replicate the initial finding. The mechanism of disease is currently unclear; Palmer et al. (2019) speculate that disruption of the regular spacing of histidines in the HX repeat motif may alter interactions important for the disease process. Of note, this gene has also been implicated in dentatorubral-pallidoluysian atrophy. This association will be assessed separately. The association with CHEDDA is supported by limited experimental evidence involving the gene product's function. ATN1 is an atrophin protein family member and a transcriptional corepressor (19043594: Wang et al. 2008). Another atrophin family member, RERE, is associated with a disorder with significant overlap with CHEDDA (27087320: Fregeau et al. 2016), and other genes containing similar histidine repeat motifs, which is the domain affected by all variants reported to date, have also been linked to neurocognitive conditions with congenital anomalies (30827498: Palmer et al. 2019). In addition, ATN1 is regulated by LSD1, which is also associated with a similar clinical phenotype (25519973: Zhang et al. 2014). ATN1 is expressed broadly in multiple organs, including brain, heart, lung, kidney, and skeletal muscle, and expression is higher in fetal tissue, including in neural progenitors (25519973: Zhang et al. 2014). In utero electroporation experiments demonstrate that ATN1 maintains neural progenitor cells in mouse neocortex (25519973: Zhang et al. 2014). In summary, there is moderate evidence to support this gene-disease relationship. While more expertimental evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged.

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM 618494	
Dentatorubral-pallidoluysian atrophy, MIM 125370

Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found differences in disease mechanism and phenotype. Palmer et al. (2019) (PMID: 30827498) proposed a new gene-disease relationship for the ATN1 gene based on the identification of eight patients with de novo missense or in-frame insertion variants in the HX repeat region of ATN1. The suggested phenotype name was CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) and patients displayed severe cognitive impairment, hypotonia, a recognizable facial gestalt, and variable congenital anomalies. All patients lacked the progressive symptoms of dentatorubral-pallidoluysian atrophy (DRPLA) neurodegeneration (OMIM: 125370). DRPLA is caused by heterozygous expanded trinucleotide repeats in ATN1. Therefore, we have split curations for the disease entities CHEDDA and DRPLA. "	"30827498, 25519973, 19043594"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100084"	"2020-10-15"
"GENCC_000105-HGNC_6884-OMIM_618443-HP_0000006-GENCC_100002"	"HGNC:6884"	"MAPK8IP3"	"MONDO:0032755"	"neurodevelopmental disorder with or without variable brain abnormalities; NEDBA"	"OMIM:618443"	"Neurodevelopmental disorder with or without variable brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6884"	"MAPK8IP3"	"OMIM:618443"	"MAPK8IP3-related neurodevelopmental disorder with or without variable brain abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-08-27 00:00:00"	""	"The MAPK8IP3 gene was first reported in relation to autosomal dominant MAPK8IP3-related neurodevelopmental disorder with or without variable brain abnormalities in 2019 (30612693: Platzer et al. 2019). At least six unique variants (including five missense variants and one stop-gained) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands in two publications (30612693: Platzer et al. 2019; 30945334: Iwasawa et al. 2019). The mechanism of the disease is not yet established. However, it is known that the protein encoded by MAPK8IP3 acts as a regulator of vesicle transport and promotes neuronal axon elongation in a kinesin- and JNK-dependent manner and that both missense variants in important functional domains and null variants are implicated in disease. This gene-disease relationship is supported by evidence from model organisms where the effect of five missense and one null variant on axonal lysosomal accumulation in C.elegans was evaluated with at least three of the variants resulting in higher axonal lysosomal density and reduced swimming rates (30612693: Platzer et al. 2019). In addition, a heterozygous knockout mouse for the MAPK8IP3 gene was shown to present with axonal lysosome accumulations demonstrating a role for the protein in axonal lysosome transport (28784610: Gowrishankar et al. 2017). In summary, there is strong evidence to support the relationship between the MAPK8IP3 gene and MAPK8IP3-related neurodevelopmental disorder with or without variable brain abnormalities (autosomal dominant). Additional reports in humans are needed over time from the first proposal of the association to reach a definitive classification."	"30612693, 30945334, 28784610"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100085"	"2020-10-15"
"GENCC_000105-HGNC_3133-MONDO_0026782-HP_0001417-GENCC_100001"	"HGNC:3133"	"EBP"	"MONDO:0026782"	"chondrodysplasia punctata 2, X-linked dominant"	"MONDO:0026782"	"chondrodysplasia punctata 2, X-linked dominant"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:3133"	"EBP"	"MONDO:0026782"	"Chondrodysplasia punctata, X linked dominant"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-10-04 00:00:00"	""	"The EBP gene is located on chromosome X at Xp11.23 and encodes 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase protein, an integral membrane protein located in the endoplasmic reticulum that functions as a sterol isomerase, catalysing the conversion of Delta8-sterols to Delta7-isomers in the final steps of the production of cholesterol. The EBP gene was first reported in relation to X-linked dominant chondrodysplasia punctata in 1999 (10391218: Derry et al. 1999). At least seven unique variants, including six null variants and one missense variant (six of which were de novo) have been reported in three studies (10391218: Derry et al. 1999; 22121851: Cañueto et al. 2012; 25754886 Lefebvre et al. 2015). Evidence supporting this gene-disease relationship includes case-level data and experimental data. X-linked dominant chondrodysplasia punctata arises almost exclusively in females and is usually lethal in males, although a few male patients have been reported who carry somatic mosaicism in EBP or present with Klinefleter syndrome. Genotype to phenotype correlation remains uncertain. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Of note, this gene has also been implicated in MEND syndrome. This gene-disease relationship will be assessed separately. This gene-disease relationship is supported by at least one mouse model, Td, where heterozygous male mice exhibit severe skeletal defects, lack intestines and suffer prenatal lethality and heterozygous females are small, have patches of hyperkeratotic skin, absent hair, mild skeletal defects including craniofacial dysmorphia and asymmetric ophthalmia, thereby recapitulating features of the human condition (10391218: Derry et al. 1999). Furthermore, transgenic expression of wild-type EBP in the presence of the variant form is sufficient to rescue the tattered phenotype of males and heterozygous females (11309666:  Means et al. 2001). In summary, the EBP gene is definitively associated with X-linked dominant chondrodysplasia punctate. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time."	"22121851, 25754886, 10391218, 11309666"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100086"	"2020-10-15"
"GENCC_000105-HGNC_2731-MONDO_0032579-HP_0000006-GENCC_100004"	"HGNC:2731"	"DDR2"	"MONDO:0032579"	"warburg-cinotti syndrome"	"MONDO:0032579"	"warburg-cinotti syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2731"	"DDR2"	"MONDO:0032579"	"Warburg-Cinotti syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-08-21 00:00:00"	""	"The DDR2 gene is located on chromosome 1 at 1q23.3 and encodes the discoidin domain receptor tyrosine kinase 2 protein. The protein is a widely expressed transmembrane receptor which is activated by fibrillar collagen in the extracellular matrix and plays a role in cell differentiation, remodelling of the extracellular matrix and cell proliferation. DDR2 was first reported in relation to autosomal dominant Warburg-Cinotti syndrome in 2018 (30449416: Xu et al. 2018). At least two unique missense variants have been reported, Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least four probands in one publication (30449416: Xu et al. 2018 ). Variants in this gene segregated with disease in two additional family members in one family (affect offspring from an affected mother). The mechanism for disease appears to involve heterozygous gain of function (30449416: Xu et al. 2018). Of note, variants in DDR2 are also associated with spondylometaepiphyseal dysplasia, short limb-hand type, an autosomal recessive disorder associated with loss-of-function variants. These two disorders are considered distinct disease entities and will be curated separately. The gene-disease relationship is supported by expression data with the DDR2 gene displaying a high level of expression in skin especially (11375938: Labrador et al. 2001). In vitro functional assays demonstrate activation of DDR2 by collagen and a role of the protein in the proliferation of skin fibroblasts and wound healing (9659899: Vogel et al. 1997; 11375938: Labrador et al. 2001). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role; no convincing evidence has emerged that contradicts the gene-disease relationship.  

 

LUMPING AND SPLITTING CONSIDERATIONS: 

MIM 271665: Spondylometaepiphyseal dysplasia, short limb-hand type 

Per criteria outlined by the ClinGen Lumping and Splitting Working group, we found evidence of a distinct phenotypes and different modes of inheritance and mechanism of disease. Therefore, we have split curations for Warburgh-Cinotti syndrome and spodylometaepiphyseal dysplasia, short limb-hand type. "	"30449416, 9659899, 11375938, "	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100087"	"2020-10-15"
"GENCC_000105-HGNC_11509-OMIM_618218-HP_0000006-GENCC_100003"	"HGNC:11509"	"SYT1"	"MONDO:0033864"	"infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"	"OMIM:618218"	"Baker-Gordon syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11509"	"SYT1"	"OMIM:618218"	"SYT1-associated neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-01-18 00:00:00"	""	"The SYT1 gene was first reported in relation to autosomal dominant SYT1-associated neurodevelopmental disorder in 2018 (30107533: Baker et al. 2018). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least five unique missense variants have been reported in a total of 11 cases, all from a single study (30107533: Baker et al. 2018). All the reported variants were de novo. The mechanism for disease is unknown. This gene-disease relationship is supported by in vitro functional assays and expression data (22031440: Kang et al. 2011; 30107533: Baker et al. 2018). The biochemical function of the protein is well-described, but the mechanism of disease is not entirely clear. In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"30107533, 22031440"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100088"	"2020-10-15"
"GENCC_000105-HGNC_103-OMIM_616418-HP_0000006-GENCC_100002"	"HGNC:103"	"CNNM2"	"MONDO:0020787"	"hypomagnesemia, seizures, and intellectual disability 1"	"OMIM:616418"	"Hypomagnesemia, seizures, and impaired intellectual development 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:103"	"CNNM2"	"OMIM:616418"	"CNNM2-related hypomagnesemia, seizures and intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-08-27 00:00:00"	""	"The CNNM2 gene is located on chromosome 10 at 10q24.32 and encodes the cyclin and CBS domain divalent metal cation transport mediator 2 protein. This protein shows high basolateral expression in the renal tubule segments most involved in magnesium resorption and is also expressed in the brain (21397062: Stuiver et al. 2011). Functional studies suggest it acts to regulate magnesium transport (21397062: Stuiver et al. 2011; 24699222: Arjona et al. 2014). CNNM2 was first reported in relation to CNNM2-related hypomagnesemia, seizures and intellectual disability, autosomal dominant, in 2011 (21397062: Stuiver et al. 2011). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least five probands in two publications (21397062: Stuiver et al. 2011; 24699222: Arjona et al. 2014). Three cases carried CNNM2 variants in a heterozygous state, variants occurred de novo in three of these cases. Of the five unique variants, four were missense and one resulted in a frameshift variant and predicted loss of function. Evaluation of the missense variants in vitro indicates a loss of function or hypomorphic mechanism of disease. This gene-disease relationship is supported by experimental data including a zebrafish, CNNM2 morpholino knockdown model which recapitulated the key features of disease, demonstrating a gene dosage dependant reduction in magnesium levels, brain malformation, and signs of neuromuscular impairment. These phenotypes were exacerbated by expression of mutant CNNM2 and rescued by expression of wildtype CNNM2 (24699222: Arjona et al. 2014). Additional experimental support comes from expression studies and in vitro functional assays (21397062: Stuiver et al. 2011; 24699222: Arjona et al. 2014). In summary, there is strong evidence to support the relationship between CNNM2 and autosomal dominant CNNM2-related hypomagnesemia, seizures and intellectual disability. Additional clinical reports are needed to reach a definitive classification."	"24699222, 21397062"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100089"	"2020-10-15"
"GENCC_000105-HGNC_1956-OMIM_610353-HP_0000006-GENCC_100004"	"HGNC:1956"	"CHRNA2"	"MONDO:0012474"	"autosomal dominant nocturnal frontal lobe epilepsy 4"	"OMIM:610353"	"Epilepsy, nocturnal frontal lobe, type 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1956"	"CHRNA2"	"OMIM:610353"	"Epilepsy, nocturnal frontal lobe"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-06-03 00:00:00"	""	"The CHRNA2 gene is located on chromosome 8 at 8p21.2 and encodes the cholinergic receptor nicotinic alpha 2 subunit. CHRNA2 is expressed in the brain and is involved with the binding of acetylcholine and the opening of an ion-conducting channel across the plasma membrane (20016990: Steinlein and Bertrand 2010; 25717303: Becchetti et al. 2015). The CHRNA2 gene was first reported in association with autosomal dominant epilepsy, nocturnal frontal lobe,  in 2006 (16826524: Aridon et al. 2006). At least four unique variants have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Heterozygous missense variants in this gene have been reported in at least four probands from four publications (16826524: Aridon et al. 2006; 25770198: Conti et al. 2015; 25847220: Trivisano et al. 2015; 30809122: Villa et al. 2019). All reported variants were inherited, and variants in this gene segregated with disease in approximately 20 additional family members. A disease mechanism has not been established; two of the identified variants resulted in a loss of receptor function, while a third resulted in increased receptor sensitivity. This association is also supported by expression data, in vitro functional assays, and a shared biochemical function other nicotinic acetylcholine receptor subunit genes (20016990: Steinlein and Bertrand 2010; 16826524: Aridon et al. 2006). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"16826524, 25770198, 25847220, 30809122, 20016990, 16826524 "	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100090"	"2020-10-15"
"GENCC_000105-HGNC_21637-MONDO_0100147-HP_0000006-GENCC_100001"	"HGNC:21637"	"SATB2"	"MONDO:0100147"	"SATB2 associated disorder"	"MONDO:0100147"	"SATB2 associated disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:21637"	"SATB2"	"MONDO:0100147"	"SATB2 associated disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-08-14 00:00:00"	""	"The SATB2 gene is located on chromosome 2 at 2q33.1 and encodes the SATB homeobox 2 protein, a nuclear matrix DNA-binding protein that regulates nuclear gene expression through chromatin remodelling. SAT2B was first reported in relation to autosomal dominant SATB2 associated disorder in 2007 (17377962: Leoyklang et al. 2007). Evidence supporting this gene -disease relationship include case level data and experimental data. Variants in this gene have been reported in at least five probands in three publications (17377962: Leoyklang et al. 2007; 24301056: Docker et al. 2014; 28151491: Bengani et al. 2017). Variants occurred de novo and included three nonsense variants and a frameshift variant. Missense variants have also been associated with the disorder (28151491: Bengani et al. 2017) and more evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism of disease is considered to be haploinsufficiency, although one variant has been shown to have a dominant negative effect in vitro (23925499: Leoyklang et al. 2013; 28151491: Bengani et al. 2017). The spatial and temporal expression pattern of Satb2 in the embryonic mouse and chick broadly correlates with those structures affected in cases with SATB2 associated disorder. Satb2 knockout mice recapitulate key features of the clinical disease: heterozygous Satb2 knockout mice demonstrate the early onset of craniofacial dysmorphologies such as cleft palate and incisor hypodontia and/or adontia, while homozygous mice show an exacerbated phenotype that includes skeletal malformations (16960803: Britanova et al. 2006), indicating the phenotype is dose dependent. A conditional knockout mouse model lacking expression of Satb2 in the cortex and hippocampus also recapitulated behaviour abnormalities associated with the disease (30809123: Zhang et al. 2019). In summary, SATB2 is definitively associated with autosomal dominant SATB2 associated disorder. This has been repeatedly demonstrated in both the research and clinical diagnostic setting and has been upheld over time. Notably, 2q32-q33 deletion syndrome is associated with a similar phenotype and a multigene deletion including SATB2. "	"17377962, 24301056, 28151491, 21089028, 30809123, 16960803"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100091"	"2020-10-15"
"GENCC_000105-HGNC_7979-MONDO_0008329-HP_0000006-GENCC_100001"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-08-05 00:00:00"	""	"The NR3C2 gene is located on chromosome 4 at 4q31.23 and encodes nuclear receptor subfamily 3 group C member 2. As a ligand-dependent transcription factor, this protein acts as a receptor for mineralocorticoids such as aldosterone and glucocorticoids and regulates ion and water transport by transactivating target genes with mineralocorticoid response elements. The NR3C2 gene was first reported in relation to autosomal dominant pseudohypoaldosteronism type 1 in 1998 (9662404: Geller et al. 1998). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least seven individuals from three publications (9662404: Geller et al. 1998; 11344206: Viemann et al. 2001; 16972228: Pujo et al. 2007). In four cases, the variant was confirmed to have occurred de novo, and variants in this gene segregated with disease in at least three additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is haploinsufficiency. Of note, this gene has also been implicated in early-onset autosomal dominant hypertension. This relationship will be assessed separately. The relationship between NR3C2 and autosomal dominant pseudohypoaldosteronism type 1 is supported by the biochemical function of the protein as a ligand-dependent transcription factor that mediates the effects of aldosterone (28804203: Tajima et al. 2017) and by animal model data, as heterozygous knock out mice show elevated plasma renin, angiotensin, and aldosterone levels as well as high levels of sodium in urine and elevated fractional excretion of sodium (9689096: Berger et al. 1998). Homozygous knockout mice show a more severe phenotype characterized by hypovolemia, hyponatremia, hyperkalemia, and failure to thrive, dying within 2 weeks of birth. In summary, NR3C2 is definitively associated with autosomal dominant pseudohypoaldosteronism type 1. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time. "	"9662404, 11344206, 16972228, 28804203, 9689096"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100092"	"2020-10-15"
"GENCC_000105-HGNC_13394-OMIM_600995-HP_0000007-GENCC_100001"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"OMIM:600995"	"Nephrotic syndrome, type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13394"	"NPHS2"	"OMIM:600995"	"Nephrotic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-07-30 00:00:00"	""	"The NPHS2 gene is located on chromosome 1 at 1q25.2 and encodes NPHS2 stomatin family member, podocin. Podocin is expressed in the kidney, specifically in podocytes of glomeruli where it is localised at the slit diaphragm. Podocin interacts with nephrin and mediates glomerular permeability and filtration and plays a role in podocyte cell signaling. NPHS2 was first reported in relation to autosomal recessive nephrotic syndrome in 2000 (10742096: Boute et al. 2000). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least eight unique variants have been reported in seven probands with nephrotic syndrome from three studies in the literature (10742096: Boute et al. 2000; 23242530: Kerti et al. 2013; 17371932: Hinkes et al. 2007). These included two missense variants, a nonsense variant and four small indels resulting in frameshift. Variants in this gene segregated with disease in at least five additional family members across three families. More genetic evidence is available in the literature, but the maximum score for this category has been reached. The mechanism for disease is loss of function. This gene-disease relationship is supported by the specific expression of podocin in the glomeruli of the kidney (10742096: Boute et al. 2000), demonstration of interaction of with nephrin (variants in which are also known to cause nephrotic syndrome) (14570703: Huber et al. 2003), and a mouse model which recapitulates clinical and histological features of the disease (29049388: Tabatabaeifar et al. 2017). In summary, NPHS2 is definitively associated with nephrotic syndrome."	"10742096, 23242530, 17371932, 14570703, 29049388"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100093"	"2020-10-15"
"GENCC_000105-HGNC_11362-OMIM_614162-HP_0000006-GENCC_100001"	"HGNC:11362"	"STAT1"	"MONDO:0013599"	"autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"	"OMIM:614162"	"Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11362"	"STAT1"	"OMIM:614162"	"chronic mucocutaneous candidiasis, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-08 00:00:00"	""	""	"22730530, 21714643, , 23709754, 21727188"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100094"	"2020-10-15"
"GENCC_000105-HGNC_799-MONDO_0020788-HP_0000006-GENCC_100004"	"HGNC:799"	"ATP1A1"	"MONDO:0020788"	"hypomagnesemia, seizures, and intellectual disability 2"	"MONDO:0020788"	"hypomagnesemia, seizures, and intellectual disability 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:799"	"ATP1A1"	"MONDO:0020788"	"ATP1A1-related hypomagnesemia, seizures, and intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-07-31 00:00:00"	""	"The ATP1A1 gene was first reported in relation to autosomal dominant ATP1A1-related hypomagnesemia, seizures, and intellectual disability in 2018 (30388404: Schlingmann et al. 2018). De novo missense variants in the ATP1A1 gene were observed in three individuals with a syndromic form of intellectual disability (30388404: Schlingmann et al. 2018). Specifically, these individuals showed an early onset hypomagnesemia and seizure phenotype with global developmental delay. Two of the cases also presented with autism spectrum disorder. In addition, a de novo splice site variant in the ATP1A1 gene was identified in an individual with autism spectrum disorder (25363768: Iossifov et al. 2014). ATP1A1 is an alpha subunit of  Na+/K+ ATPase which is expressed ubiquitously throughout the brain in both neurons and glia and Na+/K+ ATPase is essential for the regulation of extracellular K+ levels during neuronal activity. Na+/K+ ATPase is composed of a catalytic alpha subunit isoform and an accessory beta subunit isoform, the combination of the two subunit isoforms determines the kinetic characteristics of the enzyme (27148079: Larsen et al. 2016). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. 
Of note, variants in the ATP1A1 gene have also been associated with an autosomal dominant form of Charcot Marie Tooth disease (29499166: Lassuthova et al. 2018). The individuals described did not have intellectual disability, all variants were inherited, and the phenotype is different from those described Schlingmann et al. (2018).. This condition was therefore not curated. "	" 30388404, 27148079"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100095"	"2020-10-15"
"GENCC_000105-HGNC_60-OMIM_608569-HP_0000006-GENCC_100004"	"HGNC:60"	"ABCC9"	"MONDO:0012062"	"dilated cardiomyopathy 1O"	"OMIM:608569"	"Cardiomyopathy, dilated, 1O"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:60"	"ABCC9"	"OMIM:608569"	"Dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-04-09 00:00:00"	""	"The ABCC9 gene is located on chromosome 12 at 12p12.1 and encodes the ATP binding cassette subfamily C member 9 protein, which is a subunit of ATP-sensitive potassium channels along with KCNJ11 in cardiac and smooth muscle. The ABCC9 gene was first reported in relation to dilated cardiomyopathy in 2004 (15034580: Bienengraeber et al. 2004). Evidence supporting this gene-disease relationship includes limited case-level and experimental data. Three heterozygous variants (one frameshift, one stop-gained, and one missense) in this gene were reported in three unrelated patients (15034580: Bienengraeber et al. 2004; 24503780: Pugh et al. 2014). The mechanism of disease is unknown, but in vitro analyses of the identified variants suggested they result in partial protein mislocalization and abnormal Katp channel responses to ATP and ADP (15034580: Bienengraeber et al. 2004). ABCC9 is expressed in cardiac tissue and homozygous mice with an exon 5 deletion die prematurely and have decreased ejection fraction and cardiac fraction shortening (24648545: Fahrenbach et al. 2014). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"15034580, 24503780, 24648545"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100096"	"2020-10-15"
"GENCC_000105-HGNC_2745-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:2745"	"DDX3X"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:2745"	"DDX3X"	"MONDO:0020119"	"DDX3X-related X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-07-26 00:00:00"	""	"The DDX3X gene is located on chromosome X at Xp11.4 and encodes the DEAD-box helicase 3 X-linked protein. This protein is a member of the DEAD-box ATP-dependent RNA helicases. As a regulator of Wnt-β-catenin signaling, DDX3X plays an important role in embryonic development. DDX3X is also thought to play roles in transcription, translation, and cellular signaling. DDX3X was first reported in relation to DDX3X-related X-linked syndromic intellectual disability in 2015 (26235985: Snijders Blok et al. 2015; 25533962: Deciphering Developmental Disorders Study 2015). More than 35 unique variants, including missense and predicted null variants, have been reported in humans (26235985:Snijders Blok et al. 2015). Evidence supporting this gene-disease relationship includes case-level and experimental data. Variants in this gene were curated in six affected females from two publications (26235985: Snijders Blok et al. 2015; 30174453: Carneiro et al. 2018). All variant occurred de novo. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Haploinsufficiency appears to be the mechanism of disease in affected females. This gene-disease association is supported by animal models showing disrupted embryonic development and embryonic lethality and functional alteration studies demonstrating impaired Wnt-β-catenin signaling following gene knockdown (23413191: Cruciat et al. 2013; 27179789: Chen et al. 2017). In summary,the DDX3X gene is definitively associated with DDX3X-related X-linked syndromic intellectual disability.  "	"26235985, 30174453, 23413191, 27179789, 28554332, 27159028"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100097"	"2020-10-15"
"GENCC_000105-HGNC_7648-MONDO_0000508-HP_0000006-GENCC_100002"	"HGNC:7648"	"NBEA"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7648"	"NBEA"	"MONDO:0000508"	"NBEA-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-01-18 00:00:00"	""	"The NBEA gene is located on chromosome 13 at 13q13.3 and encodes the neurobeachin protein. Neurobeachin is an A-kinase anchor protein and thus functions in the anchoring or targeting of protein kinase A. It is highly expressed in the brain, and studies have suggested it may play a role in membrane trafficking in neurons. NBEA was first reported in relation to autosomal dominant NBEA-related intellectual disability in 2018 (30269351: Mulhern et al. 2018). At least eight unique variants, primarily null variants, have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in eight probands from a single publication (30269351: Mulhern et al. 2018). In the majority of cases, the variant occurred de novo. While the maximum score for genetic evidence (12 pts.) has been reached, additional independent reports are needed to replicate the association. The mechanism of disease appears to involve haploinsufficiency. This gene-disease association is supported by expression data and the observation of reduced synaptic current amplitudes in cultured neurons from knock-out mice (11102458: Wang et al. 2000; 23277425: Nair et al. 2013). In summary, there is strong evidence to support this gene-disease relationship. "	"30269351, 11102458, 23277425"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100098"	"2020-10-15"
"GENCC_000105-HGNC_13887-MONDO_0008863-HP_0000007-GENCC_100001"	"HGNC:13887"	"ABCG8"	"MONDO:0008863"	"sitosterolemia"	"MONDO:0008863"	"sitosterolemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13887"	"ABCG8"	"MONDO:0008863"	"Sitosterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-12 00:00:00"	""	"The ABCG8 gene is located on chromosome 2 at 2p21 and encodes the ATP binding cassette subfamily G member 8 protein. This protein, which is also referred to as sterolin-2, forms a heterodimer transporter with sterolin-1, which is encoded by the ABCG5 gene. The heterodimeric transporter functions in the elimination of plant sterols, particularly sterol excretion by the liver into bile. ABCG8 was first reported in relation to autosomal recessive sitosterolemia in 2000 (11099417: Berge et al. 2000). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Six cases with variants in this gene were evaluated to support this curation (11099417: Berge et al. 2000; 11452359: Lu et al. 2001; 16029460: Rees et al. 2005). Six unique variants in this gene (homozygous or compound heterozygous) were identified in these cases and included one missense and five predicted null (four stop-gained and one splice). Variants in this gene were confirmed to segregate with the disease in one additional family member, and the missense variant was identified as a founder in the Amish population. More evidence is available in the literature. Genetic and experimental data indicate the mechanism for disease is homozygous loss of function. This gene-disease association is supported by strong expression in the liver and small intestine, protein interaction data, in vitro functional assays of patient-identified variants, and recapitulation of key disease features in homozygous knockout mice (15054092: Graf et al. 2004; 11099417: Berge et al. 2000; 11901146: Repa et al. 2002; 15040800: Klett et al. 2004). In summary, ABCG8 is definitively associated with autosomal recessive sitosterolemia. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"11099417, 11452359, 16029460, 15054092, 11901146, 15040800, 12208867"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100099"	"2020-10-15"
"GENCC_000105-HGNC_3258-MONDO_0011380-HP_0000007-GENCC_100001"	"HGNC:3258"	"EIF2B2"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:3258"	"EIF2B2"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-06-17 00:00:00"	""	"The EIF2B2 gene is located on chromosome 14 at 14q24.3 and encodes eukaryotic translation initiation factor 2B subunit beta. EIF2B2 forms a protein complex with four other EIF2B subunits and plays an important role in the initiation of mRNA translation by activating protein synthesis initiation factor 2 through its guanine nucleotide exchange factor activity. EIF2B2 was first reported in relation to leukoencephalopathy with vanishing white matter in 2001 (11704758: Leegwater et al. 2001). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least 12 variants, including missense and loss of function variants have been reported in at least eight probands from four publications (11704758: Leegwater et al. 2001; 14566705: van der Knapp et al. 2003; 15054402: Fogli et al. 2004; 21484434: Matsukawa et al. 2011). More evidence is available in the literature, but the maximum score for genetic evidence has been reached. Clinical evidence indicates that loss of function is the mechanism of disease. This gene-disease association is supported by the biochemical function of EIF2B2 and other genes in the EIF2B complex are associated with the disease (20301435: van der Knaap et al. 2019). Co-immunoprecipitation experiments demonstrate an interaction between EIF2B2 and all four of the other EIF2B subunits (14993275: Richardson et al. 2004). In vitro functional analyses of patient-identified missense variants suggest loss of function, including disruption of interactions with other subunits and impaired translation (14993275: Richardson et al. 2004). In summary, the EIF2B2 gene is definitively associated with leukoencephalopathy with vanishing white matter."	"11704758, 15136673, 20301435, 14993275, 14566705, 15054402, 21484434, 30720246, 20826436"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100100"	"2020-10-15"
"GENCC_000105-HGNC_4921-MONDO_0014858-HP_0000006-GENCC_100002"	"HGNC:4921"	"HIVEP2"	"MONDO:0014858"	"intellectual disability, autosomal dominant 43"	"MONDO:0014858"	"intellectual disability, autosomal dominant 43"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4921"	"HIVEP2"	"MONDO:0014858"	"HIVEP2-related intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-02-12 00:00:00"	""	"The HIVEP2 gene was first reported in relation to autosomal dominant HIVEP2-related intellectual disability in 2012 (23020937: Rauch et al. 2012). At least six unique variants have been reported in three papers, all of which are de novo, loss of function variants (four null, and two frameshift variants) (23020937: Rauch et al. 2012; 26153216: Srivastava et al. 2016; 27003583: Steinfeld et al. 2016). Evidence supporting this gene-disease relationship includes case-level data and experimental data. More evidence is available in the literature, but the maximum score for genetic evidence experimental evidence (12 pts.) has been reached. This gene-disease relationship is supported by a homozygous knockout mouse model which exhibited anxiety, increased stress, cognitive impairment, hyperactivity and other brain anomalies; and studies showing interaction with, and expression in the developing brain and co-localisation with, SEF2 (now TCF4), a gene associated with intellectual disability. In summary, there is strong evidence to support the relationship between HIVEP2 and HIVEP2-related intellectual disability (autosomal dominant). Additional reports in humans are needed to reach a definitive classification"	"23020937, 26153216, 27003583, 16836985, 23389689, 10207097"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100101"	"2020-10-15"
"GENCC_000105-HGNC_9251-MONDO_0009737-HP_0000007-GENCC_100001"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"galactosialidosis"	"MONDO:0009737"	"galactosialidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"Galactosialidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-10 00:00:00"	""	"The CTSA gene is located on chromosome 20 at 20q13.12 and encodes the protein cathepsin A, which is also called lysosomal protective protein/cathepsin A, or PPCA. This protein is active in lysosomes and plays a critical role in supporting the stability andactivity of beta-galactosidase and neuraminidase. Cathepsin A can also act as a protease. CTSA was first reported in relation to autosomal recessive galactosialidosis in 1993 (8514852: Shimmoto et al. 1993). At least 27 unique variants have been reported in humans, including small deletions/insertions, missense mutations, splicing variants and only one nonsense mutation (28603679: Annunziata & d’Azzo 2017). Recurrent variants include a splice region variant resulting in skipping of exon 7 and two missense variants, Phe458Val and Tyr267Asn. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Seven cases with variants in this gene were evaluated to support this curation (8514852: Shimmoto et al. 1993; 24769197: Prada et al. 2014; 29876240: Okulu et al. 2017; 28555253: Kartal et al. 2017). Segregation data were not available. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Genetic and experimental data indicate the mechanism for disease is homozygous loss of function. This gene-disease relationship is supported by biochemical function data, a knockout mouse model that recapitulates the human disease, and rescue of the biochemical, morphological, and histological features in homozygous null mice by transplantation of bone marrow from a transgenic line overexpressing WT human CTSA in erythroid precursor cells (7590240: Zhou et al. 1996; 28603679: Annunziata & d’Azzo 2017). In summary, CTSA is definitively associated with autosomal recessive galactosialidosis. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time."	"8514852, 24769197, 29876240, 28555253, 28603679, 7590240"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100102"	"2020-10-15"
"GENCC_000105-HGNC_30765-MONDO_0014876-HP_0000007-GENCC_100004"	"HGNC:30765"	"TNIK"	"MONDO:0014876"	"intellectual disability, autosomal recessive 54"	"MONDO:0014876"	"intellectual disability, autosomal recessive 54"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:30765"	"TNIK"	"MONDO:0014876"	"TNIK-related intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-04-12 00:00:00"	""	""	"27106596, 23035106"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100103"	"2020-10-15"
"GENCC_000105-HGNC_23215-MONDO_0013882-HP_0000007-GENCC_100002"	"HGNC:23215"	"PIGO"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome 2"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:23215"	"PIGO"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-02-25 00:00:00"	""	""	"22683086, 24049131, 24417746,  28900819, 27177984, 2833824, 29310717"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100104"	"2020-10-15"
"GENCC_000105-HGNC_33778-MONDO_0009700-HP_0000007-GENCC_100002"	"HGNC:33778"	"MYMK"	"MONDO:0009700"	"Carey-Fineman-Ziter syndrome"	"MONDO:0009700"	"Carey-Fineman-Ziter syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:33778"	"MYMK"	"MONDO:0009700"	"Carey-Fineman-Ziter Syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-06-04 00:00:00"	""	"The MYMK gene, previously referred to as TMEM8C, is located on chromosome 9 at 9q34.2 and encodes the transmembrane Myomaker protein, which is required for myoblast fusion and the formation of multinucleated myofibers during skeletal muscle development and regeneration. The MYMK gene was first reported in relation to autosomal recessive Carey-Fineman-Ziter syndrome in 2017 (28681861: Di Gioia et al. 2017). At least six unique variants, all missense, have been reported in humans. A majority of individuals carry one copy of the p.Pro91Thr variant. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in seven unrelated probands in three publications (28681861: Di Gioia et al. 2017; 29560417: Alrohaif et al. 2018; 30065953: Hedberg-Oldfors et al. 2018). Variants in this gene segregated with disease in five additional family members, but none of the families met criteria for scoring segregation. Homozygous loss of function is implicated as the mechanism of disease. This gene-disease relationship is also supported by expression data, in vitro functional analyses of reported variants, mouse and zebrafish models, and rescue in the zebrafish model (23868259: Millay et al. 2013; 28681861: Di Gioia et al. 2017). In summary, there is strong evidence to support the relationship between MYMK and Carey-Fineman-Ziter syndrome, autosomal recessive. An additional report in humans published three years from the first proposal of the association is needed to reach a definitive classification."	"23868259, 28681861, 29560417, 30065953"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100105"	"2020-10-15"
"GENCC_000105-HGNC_11110-OMIM_614607-HP_0000006-GENCC_100002"	"HGNC:11110"	"ARID1A"	"MONDO:0013819"	"intellectual disability, autosomal dominant 14"	"OMIM:614607"	"Coffin-Siris syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11110"	"ARID1A"	"OMIM:614607"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-06-21 00:00:00"	""	"The ARID1A gene is located on chromosome 1 at 1p36.11 and encodes the AT-rich interaction domain 1A. This protein is a component of the SWI/SNF complex and plays an important role in chromatin remodeling and DNA transcription, replication, and repair. It also functions in regulating neural stem cell fate and brain development. The ARID1A gene was first reported in relation to autosomal dominant Coffin-Siris syndrome in 2012 (22426308: Tsurusaki et al. 2012). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least eight unique variants in this gene have been reported in at least three publications (22426308: Tsurusaki et al. 2012; 23929686: Santen et al. 2013; 23906836: Wieczorek et al. 2013). None of the variants were inherited, and at least three were proven de novo. The maximum score for genetic evidence has been reached. Loss of function is implicated as the mechanism of disease; all eight variants curated were heterozygous predicted null, although a truncated protein rather than nonsense-mediated decay was expected for three of the variants. This gene-disease relationship is supported by biochemical pathway (30123105: Bögershausen et al. 2018), protein interaction (20522713: Krosl et al. 2010), and animal model data (26806701: Chandler et al. 2016), as homozygous neural crest cell-specific null mice exhibit embryonic lethality but also features that overlap with the human disease. Heterozyous conditional null mice also partially recapitulate the phenotype. In summary, there is strong evidence to support the relationship between ARID1A and Coffin-Siris syndrome (autosomal dominant). Additional reports in human published after the first proposal of the association are needed to reach a definitive classification. "	"23929686, 22426308, 23906836, 30123105, 20522713, 26806701, 26716708"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100106"	"2020-10-15"
"GENCC_000105-HGNC_3596-MONDO_0033480-HP_0000006-GENCC_100004"	"HGNC:3596"	"FAT2"	"MONDO:0033480"	"spinocerebellar ataxia 45"	"MONDO:0033480"	"spinocerebellar ataxia 45"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3596"	"FAT2"	"MONDO:0033480"	"spinocerebellar ataxia, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-01-29 00:00:00"	""	"The FAT2 gene is located on chromosome 5 at 5q33.1 and encodes the FAT atypical cadherin 2 protein, which helps regulate cell migration and is thought to be involved in cerebellar development by organizing the parallel fibers of granule cells. The FAT2 gene was first reported in relation to autosomal dominant spinocerebellar ataxia in 2017 (29053796: Nibbeling et al. 2017). Evidence supporting this gene-disease relationship includes limited case-level and experimental data. Heterozygous missense variants were identified in two unrelated individuals (29053796: Nibbeling et al. 2017). One of the variants segregated with the disease in six additional family members. The mechanism of disease is unknown, but in vitro analyses of the identified variants suggested they resulted in partial protein mislocalization to the golgi and in one case, increased cellular aggregation in the presence of calcium. FAT2 is also almost exclusively expressed in the cerebellum, where it localizes to the parallel fibers of granule cells (12213440: Nakayama et al. 2002). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"29053796, 12213440"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100107"	"2020-10-15"
"GENCC_000105-HGNC_12784-MONDO_0024455-HP_0000006-GENCC_100003"	"HGNC:12784"	"WNT5A"	"MONDO:0024455"	"autosomal dominant Robinow syndrome 1"	"MONDO:0024455"	"autosomal dominant Robinow syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12784"	"WNT5A"	"MONDO:0024455"	"Robinow syndrome, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-03-07 00:00:00"	""	"The WNT5A gene is located on chromosome 3 at 3p14.3 and encodes Wnt family member 5A, which is a ligand for members of the frizzled family of seven transmembrane receptors and is involved in both the canonical and noncanonical signaling pathways, depending upon the receptor context. WNT proteins play an essential role during development, controlling processes such as embryonic patterning, cell growth, migration, and differentiation. The WNT5A gene was first reported in relation to autosomal dominant Robinow syndrome in 2010 (19918918: Person et al. 2010). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least eight probands in four publications (19918918: Person et al. 2010; 24716670: Roifman et al. 2015; 27092434: Xiong et al. 2016; 29276006: White et al. 2018). Variants in this gene segregated with disease in approximately nine additional family members. The mechanism of disease has not been clearly defined, but missense variants were most commonly reported, and functional data for two suggested they were hypomorphic (19918918: Person et al. 2010). This gene-disease relationship is supported by expression and biochemical function data as well as a knock out mouse model (10021340: Yamaguchi et al. 1999; 12839624: Oishi et al. 2003; 16602827: Mikels and Nusse 2006). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"24716670, 27092434, 19918918, 12839624, 16602827, 10021340, 29276006"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100108"	"2020-10-15"
"GENCC_000105-HGNC_8918-MONDO_0010619-HP_0001417-GENCC_100001"	"HGNC:8918"	"PHEX"	"MONDO:0010619"	"X-linked dominant hypophosphatemic rickets"	"MONDO:0010619"	"X-linked dominant hypophosphatemic rickets"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:8918"	"PHEX"	"MONDO:0010619"	"hypophosphatemic rickets, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-05 00:00:00"	""	"The PHEX gene is located on chromosome X at Xp22.11 and encodes the phosphate regulating endopeptidase homolog X-linked protein, which is predominantly expressed in osteoblasts. PHEX degrades small integrin-binding ligand, N-linked glycoproteins (SIBLING proteins) such as osteopontin and suppresses levels of phosphatonin and fibroblast growth factor 23 (FGF23).  The PHEX gene was first reported in relation to X-linked hypophosphatemic rickets in 1995 (7550339: HYP Consortium, 1995). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At lease seven loss of function variants have been reported in seven cases from four publications. In three of these cases the variants were confirmed to have occurred de novo. Considerably more case level evidence is available in the literature, but the maximum score for genetic evidence (12 pts) has been reached. The mechanism of disease is haploinsufficiency.  This gene-disease relationship is supported by evidence that PHEX regulates FGF23 levels, pathogenic variants in PHEX lead to the elevation of FGF23 serum levels which correlate with disease. The elevation of FGF23 serum levels is associated with other forms of non-nutritional diseases of hypophosphatemia (30808384: Back-Nielson et al. 2019). At least four mouse models carrying either a Phex deletion or missense variant fully recapitulate the clinical disease phenotype (22573557:Owen et al. 2012; 30808384: Back-Nielson et al. 2019).  In summary, PHEX is definitively associated with X-linked hypophosphatemic rickets. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time."	"24102521, 29505567, 11502829, 1502829, 21902834, 22573557, 188049, 30808384"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100109"	"2020-10-15"
"GENCC_000105-HGNC_16412-OMIM_616050-HP_0000006-GENCC_100001"	"HGNC:16412"	"NLRC4"	"MONDO:0014472"	"periodic fever-infantile enterocolitis-autoinflammatory syndrome"	"OMIM:616050"	"Autoinflammation with infantile enterocolitis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16412"	"NLRC4"	"OMIM:616050"	"NLRC4-related autoinflammatory syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-17 00:00:00"	""	"The NLRC4 gene is located on chromosome 2 at 2p22.3 and encodes the NLR family CARD domain containing 4 protein. As a key component of the NLRC4 inflammasome, this protein plays an important role in innate immune responses. NLRC4 oligomerization triggers inflammasome assembly and activation, which leads to the activation of caspase-1, production of cytokines such as IL-1β and IL18, and inflammatory cell death, or pyroptosis. NLRC4 was first reported in relation to autosomal dominant NCRL4 related autoinflammatory syndrome in 2014 (25217960: Romberg et al. 201; 25217959: Canna et al. 2014). Evidence supporting this gene-disease relationship includes case-level data, segregation data and experimental data. At least five missense variants have been identified in a heterozygous state in six affected cases (25217960: Romberg et al. 2014; 25217959: Canna et al. 2014; 25385754: Kitamura et al. 2014; 27203668: Volker-Touw et al. 2017; 29778503: Moghaddas et al. 2018). In four affected individuals NLRC4 variants occurred de novo, in two families the NLRC4 variant segregated with disease. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. Data examining the impact of pathogenic variants on NLRC4 function, provide evidence for a gain of function mechanism of disease (25217960: Romberg et al. 2014; 25217959: Canna et al. 2014; 25385754: Kitamura et al. 2014). The gene-disease relationship is also supported by a knock-in mouse model which recapitulates the human phenotype (25385754: Kitamura et al. 2014). In summary, NLRC4 is definitively associated with autosomal dominant NCRL4 related autoinflammatory syndrome.
Lumping and splitting considerations: OMIM 616115: Familial cold autoinflammatory syndrome 4; OMIM 616050:Autoinflammation with infantile enterocolitis. According to the criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism or inheritance pattern and the above disorders were ‘lumped’ into the term NLRC4-associated autoinflammatory disease. Duncan and Canna (2018; PMID 29247997) describe the spectrum of NLRC4-associated autoinflammatory diseases and highlight that not all patients with NLRC4 inflammasomopathy develop macrophage activation syndrome (MAS) or enterocolitis. All variants described to date in association with this spectrum of disorders have been heterozygous gain-of-function variants, indicating no difference in inheritance pattern or disease mechanism. Although a small number of patients have been described, the possibility of genotype/phenotype correlation based on variant location has been proposed. "	"25217960, 25217959, 29778503, 27203668, 29247997, 25385754"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100110"	"2020-10-15"
"GENCC_000105-HGNC_3754-MONDO_0010233-HP_0001417-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0010233"	"heterotopia, periventricular, X-linked dominant"	"MONDO:0010233"	"heterotopia, periventricular, X-linked dominant"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:3754"	"FLNA"	"MONDO:0010233"	"periventricular nodular heterotopia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-05-01 00:00:00"	""	"The FLNA gene is located on the X chromosome at Xq28 and encodes the widely expressed actin-binding protein filamin A. This protein interacts with a large number of binding partners that include membrane proteins like receptors and channels as well as intracellular signaling molecules. Through these interactions, filamin A participates in a diverse array of cellular functions, including a key role in cell migration and adhesion. FLNA was first reported in relation to X-linked periventricular nodular heterotopia in 1998 (9883725: Fox et al. 1998). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least seven predicted null variants and two missense variants have been reported in eight cases from three publications (9883725: Fox et al. 1998; 26471271: Lange et al. 2015; 19289478: de Wit et al. 2008). In three of these cases the variants occurred de novo. More evidence is available in the literature, but the maximum score for genetic (12 pts.) has been reached. This gene-disease relationship is supported by the expression of Flna in the brain during mouse embryogenesis, particularly in cells involved in neuronal migration as well as in neuronal growth cones (17172441: Feng et al. 2006). This expression pattern, together with the gene function of FLNA, is consistent with the phenotype spectrum associated with disease (21169733: Nakamura et al. 2011). Although heterotopic neurons are not observed in hemizygous FLNA null mice or heterozygous null mice, similar cardiac and vascular defects are observed, and males show embryonic lethality as observed in the human disease (17172441: Feng et al. 2006). In summary, FLNA is definitively associated with X-linked periventricular nodular heterotopia. This has been repeatedly demonstrated in both research and clinical diagnostic settings, and has been upheld over time. Of note, this gene has also been implicated in otopalatodigital (OPD) spectrum disorders. This gene disease association will be assessed separately."	"26471271, 9883725, 19289478, 21169733, 17172441"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100111"	"2020-10-15"
"GENCC_000105-HGNC_393-MONDO_0014407-HP_0000006-GENCC_100002"	"HGNC:393"	"AKT3"	"MONDO:0014407"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"MONDO:0014407"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:393"	"AKT3"	"MONDO:0014407"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-02-11 00:00:00"	""	"The AKT3 gene is located on chromosome 1 at 1q43-q44 and encodes the AKT serine/threonine kinase 3 protein, which is associated with regulation of metabolism, proliferation, cell survival, growth and angiogenesis. It also critical for brain development. The AKT3 gene was first reported in relation to autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in 2012 (22729224: Riviere et al. 2012).  Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least five probands in four publications (22729224: Riviere et al. 2012); 23745724: Nakamura et al. 2014); 25523067: Nellist et al. 2015); 28190287: Takagi et al. 2017). In these cases, the variants reported were de novo and variant level evidence suggested a gain in function. More case level evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) was reached. This gene-disease relationship is supported by expression data showing that AKT3 is the predominant AKT paralog in the brain and a AKT3 knockout mouse model, in which homozygous null mice were observed to have  ~20 % smaller brains than their wildtype litter mates, consistent with a AKT3’s role in regulating brain size (15713641: Easton et al. 2005). In summary, AKT3 is definitively associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome."	"22729224, 23745724, 25523067, 28190287, 15713641"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100112"	"2020-10-15"
"GENCC_000105-HGNC_15925-MONDO_0019557-HP_0000006-GENCC_100005"	"HGNC:15925"	"SAMHD1"	"MONDO:0019557"	"chilblain lupus"	"MONDO:0019557"	"chilblain lupus"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:15925"	"SAMHD1"	"MONDO:0019557"	"Chilblain lupus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100005"	"Disputed Evidence"	"2019-02-25 00:00:00"	""	" The SAMHD1 gene is located on chromosome 20 at 20q11.23 and encodes the SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 protein. Through its role in the replication stress response, this protein prevents the induction of interferons and inflammation by limiting the release of single-stranded DNA from stalled replication forks. In addition, its dNTPase activity functions to reduce cellular dNTP levels and restrict viral infection. The SAMHD1 gene was first reported in relation to autosomal dominant chilblain lupus in 2011 (21204240: Ravenscroft et al. 2011). The clinical data supporting this association are limited to a single unconvincing case (Ravenscroft et al. 2011), as the same variant identified in the only reported case has also been reported in a heterozygous state in at least four unaffected individuals (19525956: Rice et al. 2009; 20653736: Ramesh et al. 2010; 30275001: Haskell et al. 2018). Of note, this gene has also been implicated in Aicardi-Goutieres syndrome. This will be assessed separately. In summary, there is convincing evidence disputing the association between SAMHD1 and autosomal dominant chilblain lupus. More evidence is needed to either support or refute the role SAMHD1 plays in this disease.
Lumping and Splitting: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found differences in inheritance pattern and phenotype. An assertion for an independent disease association has been made (21204240: Ravenscroft et al. 2011), but the autosomal dominant disorder of chilblain lupus has also been suggested to be a forme fruste of the primary autosomal recessive manifestation of Aicardi-Goutieres syndrome (AGS) (17357087: Rice et al. 2007; 27604406: Yarbrough et al. 2016). The phenotypes are largely distinct in that typical AGS is much more severe; however, chilblains are sometimes present in SAMHD1 AGS, and atypical AGS can result in a lupus-like phenotype. No difference in molecular mechanism has been asserted. For these reasons, we have split curations for the disease entities chilblain lupus and Aicardi-Goutieres syndrome."	"21204240, 19525956, 29670289"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100113"	"2020-10-15"
"GENCC_000105-HGNC_19940-MONDO_0020642-HP_0000007-GENCC_100008"	"HGNC:19940"	"AQP11"	"MONDO:0020642"	"polycystic kidney disease"	"MONDO:0020642"	"polycystic kidney disease"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:19940"	"AQP11"	"MONDO:0020642"	"polycystic kidney disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2019-04-09 00:00:00"	""	"The AQP11 gene is located on chromosome 11 at 11q14 and encodes aquaporin 11, an atypical member of the aquaporin family of membrane water channels. Variants in this gene have not been linked to human disease, so this association is based on experimental evidence only.  AQP11 is strongly expressed in the proximal tubules of the kidney and localizes to the cytoplasm, particularly the endoplasmic reticulum (16107722: Morishita et al. 2005; 24854278: Inoue et al. 2014). Homozygous AQP11 null mice as well as mice homozygous for an AQP11 missense variant develop polycystic kidneys, vacuolization of proximal tubule cells, and severe renal failure, recapitulating key features of polycystic kidney disease in humans (16107722: Morishita et al. 2005; 18701606: Tchekneva et al. 2008). Further studies of these animals suggest that ER stress, oxidative stress, and disrupted function of polycystin may play a role in the development of the disease, but the physiological functions of AQP11 remain incompletely understood (18606867: Okada et al. 2008; 23486012: Atochina-Vasserman et al. 2013; 24854278: Inoue et al. 2014) , summarized in Matsuzaki et al. (2017) (26798062). In summary, only experimental evidence is available to support this gene-disease association. Human genetic evidence is needed to support a causal role."	"16107722 , 24854278, 24854278 , 18701606 "	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100114"	"2020-10-15"
"GENCC_000105-HGNC_10669-MONDO_0011921-HP_0000006-GENCC_100004"	"HGNC:10669"	"TSHZ1"	"MONDO:0011921"	"aural atresia, congenital"	"MONDO:0011921"	"aural atresia, congenital"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10669"	"TSHZ1"	"MONDO:0011921"	"Congenital aural atresia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-07-19 00:00:00"	""	"The TSHZ1 gene is located on chromosome 18 at 18q22.3 and encodes the teashirt zinc finger homeobox 1 protein. TSHZ1 is a putative zinc finger transcription factor that is expressed throughout the embryo during development (15834955: Caubit et al. 2005; 17586487: Core et al. 2007). TSHZ1 was first reported in relation to autosomal dominant congenital aural atresia in 2011 (22152683: Feenstra et al. 2011). Evidence supporting this gene-disease relationship includes case level data and experimental data. At least two variants, a stop gained variant and a frameshift variant, have been found in a heterozygous state in two individuals from one report in the literature, both with a phenotype of congenital aural atresia and hyposmia (22152683: Feenstra et al. 2011; 24487590: Ragancokova et al. 2014). Temporal and spatial expression of Tshz1 mRNA during development of the middle ear is consistent with the phenotype (17586487: Core et al. 2007). Embryos of the homozygous Tsh2 null mouse model showed a middle ear malformation as well as neonatal lethality, and a conditional nervous system-specific Tshz1 knock out mouse model demonstrated hyposmia (17586487: Core et al. 2007; 24487590: Ragancokova et al. 2014).  In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"22152683, 17586487, 15834955, 24487590"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100115"	"2020-10-15"
"GENCC_000105-HGNC_11219-MONDO_0014672-HP_0000007-GENCC_100004"	"HGNC:11219"	"SPARC"	"MONDO:0014672"	"osteogenesis imperfecta type 17"	"MONDO:0014672"	"osteogenesis imperfecta type 17"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11219"	"SPARC"	"MONDO:0014672"	"osteogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-01-29 00:00:00"	""	"The SPARC gene is located on chromosome 5 at 5q33.1 and encodes the secreted protein acidic and cysteine rich, or osteonectin protein. SPARC was first reported in relation to autosomal recessive osteogenesis imperfecta in 2015 (26027498: Mendoza-Londono et al. 2015). Evidence supporting this gene-disease relationship includes limited case-level data and experimental data. Two unique homozygous missense variants in this gene were reported in two unrelated patients who showed repeated fractures, kyphoscoliosis, joint hyperlaxity, and underdeveloped muscles of the lower extremities, resulting in a clinical diagnosis of osteogenesis imperfecta type IV (26027498: Mendoza-Londono et al. 2015). Both variants were located in the calcium binding domain responsible for the binding of SPARC to collagen, and skin fibroblasts from both patients showed collagen abnormalities suggestive of a damaging effect of the variants. Neither the heterozygous parents of the patients nor heterozygous mutant mice showed a phenotype. Loss of function has been suggested as the mechanism of disease, but additional evidence is needed. This gene-disease relationship is supported by expression data, protein-interaction data, and mouse model data. The SPARC protein is highly expressed in osseous tissue with high turnover (26851678: Rosset and Bradshaw 2016) and interacts with various forms of collagen (745554: Sage et al. 1989). Homozygous SPARC null mice develop low-turnover osteopenia, cataracts, intervertebral disc degeneration, and increased adiposity (9524110: Gilmour et al. 1998; 10749571: Delany et al. 2000; 12721366: Bradshaw et al. 2003; 15879573: Gruber et al. 2005). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"26027498, 745554, 26851678, 10749571"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100116"	"2020-10-15"
"GENCC_000105-HGNC_6484-MONDO_0014095-HP_0000006-GENCC_100004"	"HGNC:6484"	"LAMA4"	"MONDO:0014095"	"dilated cardiomyopathy 1JJ"	"MONDO:0014095"	"dilated cardiomyopathy 1JJ"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6484"	"LAMA4"	"MONDO:0014095"	"dilated cardiomyopathy 1JJ"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-04-08 00:00:00"	""	"The LAMA4 gene is located on chromosome 6 at 6q21 and encodes laminin subunit alpha 4. Laminins are a major component of basement membranes, and laminins containing α4 subunits are highly expressed in the microvasculature, cardiomyocyte sarcolemma, and cardiac and skeletal muscle. Laminins serve both structural and signaling roles and have been implicated in a diverse array of cellular functions such as cell adhesion and differentiation. LAMA4 was first reported in relation to an autosomal dominant dilated cardiomyopathy in 2007 (17646580: Knöll et al. 2007). At this time, evidence supporting this gene-disease relationship is limited to experimental data. Heterozygous variants in the LAMA4 gene have been reported in a small number of individuals with dilated cardiomyopathy (17646580: Knöll et al. 2007; 26406308: Marston et al. 2015), but none of these variants had sufficient evidence for disease causality. More recently, heterozygous LAMA4 variants have been reported in cases with possible alternative molecular bases for disease (25979592: Waldmüller et al. 2015; 29253866: Klauke et al. 2017; 30165862: Lu et al. 2018; 30764827: Refaat et al. 2019; 30650640: Abdallah et al. 2019; 29415625: Laenens et al. 2019). Homozygous LAMA4 knockout mice show microvascular anomalies and develop cardiomyopathy, neurological dysfunction, and kidney disease, while heterozygous mice do not show a phenotype (11809810: Thyboll et al. 2002; 11369940: Patton et al. 2001; 15814800: Wallquist et al. 2005; 16204254: Wang et al. 2006; 20035058: Abrass et al. 2010). Approximately one-third of zebrafish treated with morpholinos against LAMA4 show cardiovascular dysfunction and hemorrhage, but fish injected with a lower dose show no phenotype (17646580: Knöll et al. 2007). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship."	"16204254, 11809810, 17646580, 26406308, 20035058"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100117"	"2020-10-15"
"GENCC_000105-HGNC_3823-MONDO_0013352-HP_0000006-GENCC_100001"	"HGNC:3823"	"FOXP1"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3823"	"FOXP1"	"MONDO:0013352"	"FOXP1-related intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-29 00:00:00"	""	"The FOXP1 gene is located on chromosome 3 at 3p13 and encodes the forkhead box P1 protein, which is a transcriptional repressor that promotes columnar organization of spinal motor neurons and plays a role in specification and differentiation of lung epithelium, regulation of B-cell development and cardiac muscle cell proliferation. The FOXP1 gene was first reported in relation to autosomal dominant FOXP1-related intellectual disability syndrome in 2010 (20950788: Hamdan et al. 2010). At least six unique variants have been reported in humans, including missense and predicted null variants. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands in three publications (20950788: Hamdan et al. 2010; 26647308: Sollis et al. 2016; 28735298: Meerschaut et al. 2017). All variants occurred de novo. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism of disease involves haploinsufficiency. This gene-disease relationship is also supported by expression data, in vitro functional assays, and data from a knockout mouse model (12687690: Ferland et al. 2013; 26647308: Sollis et al. 2016). In summary, FOXP1 is definitively associated with autosomal dominant FOXP1-related intellectual disability syndrome."	"20950788, 26647308, 28735298, 12687690, 25266127"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100118"	"2020-10-15"
"GENCC_000105-HGNC_8632-MONDO_0060549-HP_0000006-GENCC_100002"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"PBX1-related congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-03-07 00:00:00"	""	"The PBX1 gene is located on chromosome 1 at 1q23.3 and encodes the PBX homeobox 1 protein, a homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate gene transcription during development. PBX1 is specifically involved in body axes patterning and organogenesis (12591246: Schnabel 2003; 18723445: Stankunas et al. 2008). PBX1 was first reported in relation to autosomal dominant PBX1-related congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in 2017 (28566479: Heidet et al. 2017). Evidence supporting this gene-disease relationship includes case-level data and experimental data. At least seven de novo variants, in a heterozygous state, have been found in seven cases with a spectrum of intellectual disability and pleiotropic developmental defects, from three reports in the literature (28566479: Heidet et al. 2017; 29036646: Slavotinek et al. 2017; 29226118: Riedhammer et al. 2017). These included three missense variants, a nonsense variant, two small deletions leading to a frameshift, and a splicing variant. More genetic evidence has been reported in the literature, but the maximum score for this category has been reached (12 pts). Expression data in the mouse and phenotype data from the homozygous null mouse model demonstrated that the Pbx1 protein is expressed in multiple tissues during embryogenesis and is required for the correct patterning and development of multiple organs as well as skeletal development, which is consistent with the clinical spectrum of disease (11566859: Selleri et al. 2001; 18723445: Stankunas et al. 2008; 18849531: Chang et al. 2008). In summary, there is strong evidence to support the relationship between PBX1 and autosomal dominant PBX1-related congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay. Three years must elapse from the first proposal of the association to reach a definitive classification."	"28566479, 29036646, 29226118, 18723445, 18849531, 11566859"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100119"	"2020-10-15"
"GENCC_000105-HGNC_17104-MONDO_0013642-HP_0000006-GENCC_100003"	"HGNC:17104"	"CDON"	"MONDO:0013642"	"holoprosencephaly 11"	"MONDO:0013642"	"holoprosencephaly 11"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17104"	"CDON"	"MONDO:0013642"	"CDON-related holoprosencephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-04-03 00:00:00"	""	"The CDON gene is located on chromosome 11 at 11q24.2 and encodes the cell adhesion associated, oncogene regulated protein. This protein, which is a member of the immunoglobulin superfamily, is highly expressed during embryonic development and functions as part of a cell surface receptor complex in the Sonic hedgehog signalling pathway. The CDON gene was first reported in relation to an autosomal dominant form of holoprosencephaly in 2011 (21802063: Bae et al. 2011). At least five missense variants and one stop gained variant have been reported. Evidence supporting this gene-disease relationship includes case level data and experimental data. Variants in the CDON gene have been reported in at least six probands from three publications (21802063: Bae et al. 2011; 26728615: Jones et al. 2016; 26529631: Bashamboo et al. 2016). This gene-disease relationship is supported by expression studies that are consistent with the disease (10974670: Mulieri et al. 2000) and in vitro experimental data demonstrating physical protein interaction with the SHH gene, which is also associated with a holoprosencephaly phenotype (21802063: Bae et al. 2011).  A homozygous mouse model showed facial defects of microform holoprosencephaly along with increased neonatal mortality, and reduction of CDON mRNA in the embryos of zebrafish and chick recapitulated the optic anomalies of the disease phenotypic spectrum (12620190: Cole et al. 2003; 25001599: Cardozo et al. 2014).  In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"21802063, 26529631, 26728615, 10974670, 12620190, 25001599"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100120"	"2020-10-15"
"GENCC_000105-HGNC_29090-MONDO_0011323-HP_0000006-GENCC_100002"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"Bosma arhinia microphthalmia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-04-03 00:00:00"	""	""	"29748383, 28067911, 28067909"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100121"	"2020-10-15"
"GENCC_000105-HGNC_59-MONDO_0009734-HP_0000006-GENCC_100001"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-29 00:00:00"	""	""	"11445544, 18596924, 15579781, 12941782, 11018078"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100122"	"2020-10-15"
"GENCC_000105-HGNC_7713-MONDO_0009640-HP_0000007-GENCC_100003"	"HGNC:7713"	"NDUFS6"	"MONDO:0009640"	"mitochondrial complex I deficiency, nuclear type"	"MONDO:0009640"	"mitochondrial complex I deficiency, nuclear type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:7713"	"NDUFS6"	"MONDO:0009640"	"mitochondrial complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-03-22 00:00:00"	""	"The NDUFS6 gene is located on chromosome 5 at 5p15.33 and encodes the NADH:ubiquinone oxidoreductase subunit S6 protein. This protein is an accessory subunit of the first enzyme complex in the mitochondrial electron transport chain (complex 1) and aids the transfer of electrons from NADH to the respiratory chain. NDUFS6 was first reported in relation to autosomal recessive mitochondrial complex I deficiency in 2004 (15372108: Kirby et al. 2004). Evidence supporting this gene-disease relationship includes case-level and experimental data. At least five unique variants have been reported in affected individuals in three publications including one recurrent missense variant found in a homozygous state in two individuals of Ashkenazi Jewish origin (thought to be a common founder variant in this population), one splice donor site variant found in a homozygous state in one individual, one intragenic deletion found in a homozygous state in one individual and two frameshift variants found in a compound heterozygous state in one individual (15372108: Kirby et al. 2004; 19259137: Spiegel et al. 2009; 27290639: Pronicka et al. 2016). The mechanism of disease in unknown.This gene-disease relationship is supported by gene-trap knockdown mouse models showing reduced expression of Ndufs6 in cardiac and renal tissues showed the role of complex I in organ function, and the demonstration of reduced complex I activity and defects in mitochondrial function in non-patient cells (22474353: Ke et al. 2012; 23320803: Forbes et al. 2013; 25902503: Kmita et al. 2015). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"15372108, 27290639, 25902503, 22474353, 23320803, 19259137"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100123"	"2020-10-15"
"GENCC_000105-HGNC_14255-MONDO_0015022-HP_0000006-GENCC_100002"	"HGNC:14255"	"BRPF1"	"MONDO:0015022"	"intellectual developmental disorder with dysmorphic facies and ptosis"	"MONDO:0015022"	"intellectual developmental disorder with dysmorphic facies and ptosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:14255"	"BRPF1"	"MONDO:0015022"	"Intellectual developmental disorder with dysmorphic facies and ptosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-03-01 00:00:00"	""	""	" 27939639, 27939640, 24646517, 25568313"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100124"	"2020-10-15"
"GENCC_000105-HGNC_9957-MONDO_0009760-HP_0000007-GENCC_100001"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Norman-Roberts syndrome"	"MONDO:0009760"	"Norman-Roberts syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Lissencephaly (Norman-Roberts syndrome)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-02-21 00:00:00"	""	""	"10973257, 27000652, 29671837 , 16438965"	"https://clinicalgenome.org/site/assets/files/2169/gene_curation_sop_2016_version_5_11_6_17.pdf"	"100125"	"2020-10-15"
"GENCC_000105-HGNC_132-OMIM_607371-HP_0000006-GENCC_100004"	"HGNC:132"	"ACTB"	"MONDO:0011823"	"developmental malformations-deafness-dystonia syndrome"	"OMIM:607371"	"Dystonia-deafness syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:132"	"ACTB"	"OMIM:607371"	"Juvenile onset dystonia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-09-03 00:00:00"	""	"The ACTB gene was first reported in relation to autosomal dominant juvenile onset dystonia in 2006 (16685646: Procaccio et al. 2006). Evidence supporting this gene-disease relationship includes case-level data and experimental data. A single recurrent missense variant in this gene has been reported in five unrelated cases from five reports. At least one case was confirmed as de novo inheritance, with another family showing inheritance of the variant in an affected daughter from her affected mother (16685646: Procaccio et al. 2006; 28487785: Conboy et al. 2017; 27862284: Eggink et al. 2017; 28849312: Zech et al. 2017; 29788902: Skogseid et al. 2018). The mechanism for disease is unknown. Of note, this gene has also been implicated in Baraitser–Winter Cerebrofrontofacial syndrome and ACTB-related syndromic thrombocytopenia. These will be assessed separately. This gene-disease relationship is supported by a knockout mouse model which recapitulates the progressive sensorineural hearing loss phenotype observed patients. Beta actin plays a specific role in maintenance of sterocilia of the inner ear, loss of beta actin in the knockout mice specifically leads to the degeneration of the stereocilia of the outer hair cells (30012594: Patrinostro et al. 2018). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged."	"28487785, 16685646, 29788902, 27862284, 28849312, 30012594"	"https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100126"	"2020-10-15"
"GENCC_000105-HGNC_7788-MONDO_0013885-HP_0000006-GENCC_100001"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan overgrowth syndrome"	"MONDO:0013885"	"Malan overgrowth syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-11 00:00:00"	""	"The NFIX gene is located on chromosome 19 at 19p13.13 and encodes the nuclear factor IX protein, a transcription factor that binds a palindromic sequence in cellular and viral promoters, promotes adenovirus replication, and has been implicated in brain and skeletal development. The NFIX gene was first reported in relation to autosomal dominant Malan syndrome in 2010 (20673863: Malan et al. 2010). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least eight probands in three publications (20673863: Malan et al. 2010; 22301465: Yoneda et al. 2012; 29897170: Priolo et al. 2018). Variants included five missense, two frameshift, and one stop-gained. Seven occurred de novo; one missense variant was inherited from a parent who may have had a very mild phenotype. The majority of missense variants occur in the DNA binding and dimerization domain. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached.  This gene-disease relationship is supported by expression studies, a mouse model, and in vitro functional assays (20673863: Malan et al. 2010; 17353270: Driller et al. 2007). Haploinsufficiency has been proposed as the mechanism of disease. In summary, NFIX is definitively associated with autosomal dominant Malan syndrome. Of note, this gene has also been implicated in Marshall-Smith syndrome. This relationship has been assessed separately."	"20673863, 22301465, 29897170, 17353270"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100127"	"2020-10-15"
"GENCC_000105-HGNC_7788-MONDO_0011244-HP_0000006-GENCC_100001"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"MONDO:0011244"	"Marshall-Smith syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-11 00:00:00"	""	"The NFIX gene is located on chromosome 19 at 19p13.13 and encodes the nuclear factor IX protein, a transcription factor that binds a palindromic sequence in cellular and viral promoters, promotes adenovirus replication, and has been implicated in brain and skeletal development. The NFIX gene was first reported in relation to autosomal dominant Marshall-Smith syndrome in 2010 (20673863: Malan et al. 2010). Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least six probands in two publications (20673863: Malan et al. 2010; 24924640: Schanze et al. 2014). All were heterozygous de novo predicted null variants, which clustered in exons 6-10. Evidence that a protein product is synthesized and escapes nonsense-mediated decay was available for two variants. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease association is supported by expression studies, a mouse model, and in vitro functional assays (20673863: Malan et al. 2010; 17353270: Driller et al. 2007). The mechanism of disease has been proposed to involve a dominant-negative mechanism. In summary, NFIX is definitively associated with autosomal dominant Marshall-Smith syndrome.  Of note, this gene has also been implicated in Malan syndrome and this association has been assessed separately.
Lumping and Splitting: According to the criteria outlined by the ClinGen Lumping and Splitting Working Group, we found differences in phenotypic variability and disease mechanism. Based on review of a large number of patients, Priolo et al. (2018) (PMID 29897170) conclude that Malan syndrome and Marshall-Smith syndrome should be considered separate disease entities, with important differences for clinical care. However, they note that future data may still provide further evidence for a disease spectrum. The syndromes differ in that Malan results in tall stature while Marshall-Smith results in short stature, with some additional more minor defining features. Some other features do overlap. Rarely, both syndromes may be considered as potentially diagnostic in a single patient. Malan syndrome has been proposed to result from NFIX haploinsufficiency, whereas Marshall-Smith syndrome has been proposed to result through a dominant-negative mechanism. Genotype-phenotype correlations have been proposed. Marshall-Smith variants tend to be scattered throughout exons 6–10 of the NFIX gene, while most point mutations causing Malan syndrome are clustered in exon 2. However, careful functional studies of reported variants are needed to confirm these associations. For these reasons, we have split curations for the disease entities Marshall-Smith syndrome and Malan syndrome."	"20673863, 24924640, 17353270"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100128"	"2020-10-15"
"GENCC_000105-HGNC_48-MONDO_0010524-HP_0001417-GENCC_100003"	"HGNC:48"	"ABCB7"	"MONDO:0010524"	"X-linked sideroblastic anemia with ataxia"	"MONDO:0010524"	"X-linked sideroblastic anemia with ataxia"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:48"	"ABCB7"	"MONDO:0010524"	"Sideroblastic Anemia and Ataxia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2018-05-07 00:00:00"	""	""	"10196363, 11050011, 11843825, 22398176, 26242992, 16467350, 17192398, 19046159"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100129"	"2020-10-15"
"GENCC_000105-HGNC_3571-MONDO_0019181-HP_0001417-GENCC_100003"	"HGNC:3571"	"ACSL4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:3571"	"ACSL4"	"MONDO:0019181"	"Non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2017-06-17 00:00:00"	""	""	"19166906, 21267006, 25644381, 11889465, 12525535, 26350204, 19617635"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100130"	"2020-10-15"
"GENCC_000105-HGNC_24124-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:24124"	"ACTL6A"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:24124"	"ACTL6A"	"MONDO:0001071"	"ACTL6A-related intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2018-07-11 00:00:00"	""	""	"28649782"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100131"	"2020-10-15"
"GENCC_000105-HGNC_218-MONDO_0009161-HP_0000007-GENCC_100001"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome dermatospraxis type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-02-05 00:00:00"	""	""	"10417273, 26765342"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100172"	"2022-10-27"
"GENCC_000105-HGNC_25230-MONDO_0014358-HP_0000006-GENCC_100002"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2018-01-08 00:00:00"	""	""	" 24791903, 27148574, 26350515, 29230160, 26597493"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100133"	"2020-10-15"
"GENCC_000105-HGNC_20609-MONDO_0054817-HP_0000007-GENCC_100001"	"HGNC:20609"	"AIMP2"	"MONDO:0054817"	"leukodystrophy, hypomyelinating, 17"	"MONDO:0054817"	"leukodystrophy, hypomyelinating, 17"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:20609"	"AIMP2"	"MONDO:0054817"	"Hypomyelinating leukodystrophy 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-05-17 00:00:00"	""	""	"29215095, 26795593, 29022589"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100177"	"2022-10-27"
"GENCC_000105-HGNC_21316-MONDO_0007846-HP_0000006-GENCC_100001"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG syndrome"	"MONDO:0007846"	"KBG syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG Syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-08-29 00:00:00"	""	""	"21782149, 27605097, 27667800, 25125236"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100136"	"2020-10-15"
"GENCC_000105-HGNC_559-MONDO_0012251-HP_0000007-GENCC_100002"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"MONDO:0012251"	"MEDNIK syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2017-02-02 00:00:00"	""	""	"24754424, 23423674, 19057675, 15668823,  30244301, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100137"	"2020-10-15"
"GENCC_000105-HGNC_30207-MONDO_0016034-HP_0000006-GENCC_100001"	"HGNC:30207"	"ARHGAP29"	"MONDO:0016034"	"cleft lip with or without cleft palate"	"MONDO:0016034"	"cleft lip with or without cleft palate"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30207"	"ARHGAP29"	"MONDO:0016034"	"Nonsyndromic cleft lip +/- cleft palate"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-06-12 00:00:00"	""	""	"23008150, 25963656, 27350171, 28849001, 28817352,  25704602"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100138"	"2020-10-15"
"GENCC_000105-HGNC_685-MONDO_0019181-HP_0001417-GENCC_100004"	"HGNC:685"	"ARHGEF6"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:685"	"ARHGEF6"	"MONDO:0019181"	"Non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2017-01-16 00:00:00"	""	""	"11017088, 19377476"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100139"	"2020-10-15"
"GENCC_000105-HGNC_18040-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:18040"	"ARID1B"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18040"	"ARID1B"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-09-13 00:00:00"	""	""	"25674384, 23906836, 22426308,  22426309,  23929686"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100140"	"2020-10-15"
"GENCC_000105-HGNC_714-MONDO_0009661-HP_0000007-GENCC_100001"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"Mucopolysaccharidosis, Type VI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-03-13 00:00:00"	""	""	"1550123,  15324318, 1718978, 14974081, 8116615,  8651289,  11668612, 10036316, 17643332, 17458871,  8723688"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100141"	"2020-10-15"
"GENCC_000105-HGNC_24268-MONDO_0014807-HP_0000007-GENCC_100001"	"HGNC:24268"	"ASCC1"	"MONDO:0014807"	"spinal muscular atrophy with congenital bone fractures 2"	"MONDO:0014807"	"spinal muscular atrophy with congenital bone fractures 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:24268"	"ASCC1"	"MONDO:0014807"	"Spinal muscular atrophy with congenital bone fractures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-05-09 00:00:00"	""	""	"26924529, 30327447, 32160656, 28218388, 34204919, "	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100181"	"2022-10-27"
"GENCC_000105-HGNC_18318-MONDO_0011510-HP_0000006-GENCC_100001"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-05-22 00:00:00"	""	""	"21706002, 22419483,  2421814, 27043953, 27237378, 26364555"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100143"	"2020-10-15"
"GENCC_000105-HGNC_23805-MONDO_0014963-HP_0000006-GENCC_100003"	"HGNC:23805"	"ASXL2"	"MONDO:0014963"	"Shashi-Pena syndrome"	"MONDO:0014963"	"Shashi-Pena syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:23805"	"ASXL2"	"MONDO:0014963"	"Shashi-Pena Syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-03-06 00:00:00"	""	""	"27693232, 1927074, 26051940"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100144"	"2020-10-15"
"GENCC_000105-HGNC_29357-MONDO_0014205-HP_0000006-GENCC_100001"	"HGNC:29357"	"ASXL3"	"MONDO:0014205"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"MONDO:0014205"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29357"	"ASXL3"	"MONDO:0014205"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-02-23 00:00:00"	""	""	" 23383720,  26647312,  28100473, 27901041, 28362156"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100145"	"2020-10-15"
"GENCC_000105-HGNC_812-MONDO_0007417-HP_0000006-GENCC_100001"	"HGNC:812"	"ATP2A2"	"MONDO:0007417"	"Darier disease"	"MONDO:0007417"	"Darier disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:812"	"ATP2A2"	"MONDO:0007417"	"Darier Disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-03-08 00:00:00"	""	""	" 10080178,  10441325,  12072062,  24336169, 10970890, 11389134,  11387203, 10441324,  12542527,  20518781"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100146"	"2020-10-15"
"GENCC_000105-HGNC_1044-MONDO_0010515-HP_0001417-GENCC_100004"	"HGNC:1044"	"BGN"	"MONDO:0010515"	"Meester-Loeys syndrome"	"MONDO:0010515"	"Meester-Loeys syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:1044"	"BGN"	"MONDO:0010515"	"Meester-Loeys syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2018-06-06 00:00:00"	""	""	"27632686, 22834985, 9731537"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100147"	"2020-10-15"
"GENCC_000105-HGNC_26938-MONDO_0044642-HP_0000007-GENCC_100003"	"HGNC:26938"	"HIKESHI"	"MONDO:0044642"	"c11orf73-related autosomal recessive hypomyelinating leukodystrophy"	"MONDO:0044642"	"c11orf73-related autosomal recessive hypomyelinating leukodystrophy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:26938"	"HIKESHI"	"MONDO:0044642"	"c11orf73-related autosomal recessive hypomyelinating leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2017-11-10 00:00:00"	""	""	" 26545878, 22541429, 25760597, 28000699, 28980748, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100148"	"2020-10-15"
"GENCC_000105-HGNC_1346-MONDO_0012412-HP_0000007-GENCC_100002"	"HGNC:1346"	"C7"	"MONDO:0012412"	"complement component 7 deficiency"	"MONDO:0012412"	"complement component 7 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1346"	"C7"	"MONDO:0012412"	"C7 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2018-04-25 00:00:00"	""	""	"6714987, 1347491, 8892662, 16771861, 17407100, 8871666,  9218625,  15554930, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100149"	"2020-10-15"
"GENCC_000105-HGNC_1514-MONDO_0011013-HP_0000006-GENCC_100001"	"HGNC:1514"	"CASR"	"MONDO:0011013"	"autosomal dominant hypocalcemia 1"	"MONDO:0011013"	"autosomal dominant hypocalcemia 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1514"	"CASR"	"MONDO:0011013"	"Hypocalcemia, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-08-28 00:00:00"	""	""	"27647839, 15347804, 8733126, 9253358, 12915654, 10770217, 12050233,  9920108, 8813042, 12574188,  10487661,  8132750"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100150"	"2020-10-15"
"GENCC_000105-HGNC_1850-MONDO_0020705-HP_0000006-GENCC_100003"	"HGNC:1850"	"CELSR1"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1850"	"CELSR1"	"MONDO:0020705"	"Neural tube defects, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2017-04-25 00:00:00"	""	""	"22095531, 22371354, 22632972, 24632739, 25128525, 27756857, 12842012, 22371354, 20223754"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100151"	"2020-10-15"
"GENCC_000105-HGNC_1856-MONDO_0014473-HP_0000007-GENCC_100004"	"HGNC:1856"	"CENPE"	"MONDO:0014473"	"microcephaly 13, primary, autosomal recessive"	"MONDO:0014473"	"microcephaly 13, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1856"	"CENPE"	"MONDO:0014473"	"Primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-01-18 00:00:00"	""	""	" 24748105, 12361599, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100152"	"2020-10-15"
"GENCC_000105-HGNC_1857-MONDO_0009477-HP_0000007-GENCC_100002"	"HGNC:1857"	"CENPF"	"MONDO:0009477"	"Stromme syndrome"	"MONDO:0009477"	"Stromme syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1857"	"CENPF"	"MONDO:0009477"	"Stromme syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2018-07-11 00:00:00"	""	""	"28407396,  25564561,  26820108,  25564561, 7542657"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100153"	"2020-10-15"
"GENCC_000105-HGNC_1940-MONDO_0010557-HP_0001417-GENCC_100001"	"HGNC:1940"	"CHM"	"MONDO:0010557"	"choroideremia"	"MONDO:0010557"	"choroideremia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:1940"	"CHM"	"MONDO:0010557"	"choroideremia "	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-06-27 00:00:00"	""	""	"17698759, 2220804, 1598901, 12827496, 9067750, 14983050, 16410831, 19741243,  8477262, 8242078, 1302003, 7981670, 21905166,  24913019"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100154"	"2020-10-15"
"GENCC_000105-HGNC_1966-MONDO_0018940-HP_0000007-GENCC_100001"	"HGNC:1966"	"CHRNE"	"MONDO:0018940"	"congenital myasthenic syndrome"	"MONDO:0018940"	"congenital myasthenic syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1966"	"CHRNE"	"MONDO:0018940"	"congenital myasthenic  syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-01-19 00:00:00"	""	""	"7531341, 8957026, 11030414, 12417530, 17853947, 8232384, 12141316, 10211467, 19064877, 10962020, 21150643, 21175599, 22592360, 7538206, 8755487, 22678886, , 25264167"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100155"	"2020-10-15"
"GENCC_000105-HGNC_2092-MONDO_0030922-HP_0000006-GENCC_100002"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"Intellectual disability, dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2018-08-22 00:00:00"	""	""	"29100083, 26795593, 27479843, 26822784"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100156"	"2020-10-15"
"GENCC_000105-HGNC_2174-MONDO_0005258-HP_0000006-GENCC_100005"	"HGNC:2174"	"CNTN4"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2174"	"CNTN4"	"MONDO:0005258"	"autism spectrum disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100005"	"Disputed evidence"	"2020-02-20 00:00:00"	""	""	"15106122, 18349135, 21308999, 22750301, 23872404, 26958094, 31422286, 29970989, 28064060, 19404257"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100157"	"2020-10-15"
"GENCC_000105-HGNC_13830-MONDO_0012400-HP_0000007-GENCC_100001"	"HGNC:13830"	"CNTNAP2"	"MONDO:0012400"	"cortical dysplasia-focal epilepsy syndrome"	"MONDO:0012400"	"cortical dysplasia-focal epilepsy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13830"	"CNTNAP2"	"MONDO:0012400"	"Cortical dysplasia-focal epilepsy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-02-06 00:00:00"	""	""	"17646849, 21962519, 25852443, 23714751, 26843181, 28588433, 16571880, 19896112,  27439707"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100158"	"2020-10-15"
"GENCC_000105-HGNC_2200-MONDO_0007160-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome type 1"	"MONDO:0007160"	"Stickler syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-12-07 00:00:00"	""	""	"16752401, 12544472, 20179744, 8723097, 12968670, 16752401, 25060605, 28095098"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100159"	"2020-10-15"
"GENCC_000105-HGNC_2219-MONDO_0010964-HP_0000006-GENCC_100003"	"HGNC:2219"	"COL9A3"	"MONDO:0010964"	"epiphyseal dysplasia, multiple, 3"	"MONDO:0010964"	"epiphyseal dysplasia, multiple, 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2219"	"COL9A3"	"MONDO:0010964"	"epiphyseal dysplasia, multiple, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2018-04-10 00:00:00"	""	""	"24273071, 26437029, 10655510, 15551337 "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100160"	"2020-10-15"
"GENCC_000105-HGNC_2227-MONDO_0008322-HP_0000006-GENCC_100001"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"MONDO:0008322"	"pseudoachondroplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-03-06 00:00:00"	""	""	"3314506, 9188668, 7670471, 7670472, 9632164, 9887340, 21922596, 22006726, 6987200, 19808781, 12189245, 10753957"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100161"	"2020-10-15"
"GENCC_000105-HGNC_16812-MONDO_0018151-HP_0000007-GENCC_100001"	"HGNC:16812"	"COQ8A"	"MONDO:0018151"	"coenzyme Q10 deficiency"	"MONDO:0018151"	"coenzyme Q10 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:16812"	"COQ8A"	"MONDO:0018151"	"Coenzyme Q10 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-09-21 00:00:00"	""	""	"18319072, 18319074, 29159460, 27499294, 32337771"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100162"	"2020-10-15"
"GENCC_000105-HGNC_2312-MONDO_0008910-HP_0000007-GENCC_100004"	"HGNC:2312"	"CPN1"	"MONDO:0008910"	"carboxypeptidase N deficiency"	"MONDO:0008910"	"carboxypeptidase N deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2312"	"CPN1"	"MONDO:0008910"	"Carboxypeptidase N deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2017-06-07 00:00:00"	""	""	"19414808, 12560874"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100163"	"2020-10-15"
"GENCC_000105-HGNC_2348-MONDO_0019188-HP_0000006-GENCC_100001"	"HGNC:2348"	"CREBBP"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2348"	"CREBBP"	"MONDO:0019188"	" Rubinstein-Taybi syndrome (RSTS)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-02-09 00:00:00"	""	""	"27311832, 27165009, 26788536, 18792986, 9949198"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100164"	"2020-10-15"
"GENCC_000105-HGNC_2701-MONDO_0008002-HP_0000006-GENCC_100001"	"HGNC:2701"	"DCC"	"MONDO:0008002"	"mirror movements 1"	"MONDO:0008002"	"mirror movements 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2701"	"DCC"	"MONDO:0008002"	"Mirror Movements 1 and/or agenesis of the corpus callosum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2018-09-05 00:00:00"	""	""	"19720981, 20431009, 21242494, 24808016, 28250454, 28341853, "	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100165"	"2020-10-15"
"GENCC_000105-HGNC_18423-MONDO_0024556-HP_0000006-GENCC_100001"	"HGNC:18423"	"DEPDC5"	"MONDO:0024556"	"epilepsy, familial focal, with variable foci 1"	"MONDO:0024556"	"epilepsy, familial focal, with variable foci 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18423"	"DEPDC5"	"MONDO:0024556"	"Familial focal epilepsy with variable foci "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2017-11-10 00:00:00"	""	""	"23542697, 23542701, 26216793, 24283814, 27626380, 24585383"	"https://thegencc.org/docs/ICSL-Assertion-Criteria-for-Gene-Curation.pdf"	"100166"	"2020-10-15"
"GENCC_000106-HGNC_10001-OMIM_145500-HP_0000005-GENCC_100008"	"HGNC:10001"	"RGS5"	"MONDO:0007781"	"essential hypertension, genetic"	"OMIM:145500"	"Hypertension, essential"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10001"	"RGS5"	"OMIM:145500"	"[Blood pressure regulation QTL] 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-31 20:04:32"	""	""	"17236131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RGS50BloodPr02"	"2020-12-04"
"GENCC_000106-HGNC_10006-OMIM_185000-HP_0000006-GENCC_100002"	"HGNC:10006"	"RHAG"	"MONDO:0008493"	"overhydrated hereditary stomatocytosis"	"OMIM:185000"	"Overhydrated hereditary stomatocytosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10006"	"RHAG"	"OMIM:185000"	"overhydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:34"	""	""	"18931342, 21849667"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHAG0Overhydr"	"2023-11-30"
"GENCC_000106-HGNC_10069-OMIM_133239-HP_0000005-GENCC_100008"	"HGNC:10069"	"RNF6"	"MONDO:0007576"	"esophageal cancer"	"OMIM:133239"	"Esophageal carcinoma, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10069"	"RNF6"	"OMIM:133239"	"Esophageal carcinoma, somatic 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-20 20:04:32"	""	""	"28687971, 29374067, 12154016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/3"	"RNF60Esophage04"	"2020-12-04"
"GENCC_000106-HGNC_10618-OMIM_182940-HP_0000006-GENCC_100008"	"HGNC:10618"	"CCL2"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"{Neural tube defects, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10618"	"CCL2"	"OMIM:182940"	"{Spina bifida, susceptibility to}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-02 20:04:32"	""	""	"16596675"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/4"	"CCL20SpinaBi"	"2020-12-04"
"GENCC_000106-HGNC_10719-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:10719"	"SELENBP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10719"	"SELENBP1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-25 20:04:32"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/5"	"SELENBP10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_10854-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:10854"	"SHOX2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10854"	"SHOX2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-11-20 20:04:33"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/7"	"SHOX20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_10911-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:10911"	"SLC12A2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10911"	"SLC12A2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-06-03 20:04:33"	""	""	"26955005, 26955005"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/8"	"SLC12A20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_10935-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:10935"	"SLC18A2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10935"	"SLC18A2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-09-06 20:04:33"	""	""	"23911319"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/10"	"SLC18A20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_10993-OMIM_167030-HP_0000007-GENCC_100004"	"HGNC:10993"	"SLC26A1"	"MONDO:0020722"	"nephrolithiasis susceptibility caused by SLC26A1"	"OMIM:167030"	"?Nephrolithiasis, calcium oxalate, 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10993"	"SLC26A1"	"OMIM:167030"	"nephrolithiasis susceptibility caused by SLC26A1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 14:12:57"	""	""	"24250268, 27210743"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC26A10?Nephrol"	"2023-11-30"
"GENCC_000106-HGNC_11034-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:11034"	"SLC4A8"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11034"	"SLC4A8"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-11-14 20:04:33"	""	""	"23042115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/12"	"SLC4A80Schizop"	"2020-12-04"
"GENCC_000106-HGNC_11097-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:11097"	"SMARCA1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11097"	"SMARCA1"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:54"	""	""	"27001614"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCA10{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_11153-OMIM_117650-HP_0000006-GENCC_100002"	"HGNC:11153"	"SNRPB"	"MONDO:0007301"	"cerebrocostomandibular syndrome"	"OMIM:117650"	"Cerebrocostomandibular syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11153"	"SNRPB"	"OMIM:117650"	"cerebrocostomandibular syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:38"	""	""	"166488, 2447952, 25047197, 25504470, 26971886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNRPB0Cerebroc"	"2023-11-30"
"GENCC_000106-HGNC_11244-OMIM_167800-HP_0000005-GENCC_100008"	"HGNC:11244"	"SPINK1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11244"	"SPINK1"	"OMIM:167800"	"Hereditary pancreatitis"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-07-17 20:04:34"	""	""	"30420730, 30420730"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/16"	"SPINK10Pancreatitis02"	"2020-12-04"
"GENCC_000106-HGNC_11270-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:11270"	"SPRY2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11270"	"SPRY2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-07 18:19:41"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPRY20Tourette"	"2023-11-30"
"GENCC_000106-HGNC_11272-OMIM_130600-HP_0000006-GENCC_100002"	"HGNC:11272"	"SPTA1"	"MONDO:0007533"	"elliptocytosis 2"	"OMIM:130600"	"Elliptocytosis-2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11272"	"SPTA1"	"OMIM:130600"	"elliptocytosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-04 00:01:03"	""	""	"1679439, 18218854, 2328319"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTA10Elliptoc"	"2023-11-30"
"GENCC_000106-HGNC_11283-OMIM_114500-HP_0000005-GENCC_100008"	"HGNC:11283"	"SRC"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11283"	"SRC"	"OMIM:114500"	"Colon cancer, advanced, somatic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-19 20:04:34"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/19"	"SRC0ColonCan"	"2020-12-04"
"GENCC_000106-HGNC_11498-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:11498"	"SYNGR1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11498"	"SYNGR1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-20 20:04:35"	""	""	"17049558, 16215643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/20"	"SYNGR10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_11542-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:11542"	"TAF9"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11542"	"TAF9"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-27 20:04:35"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/21"	"TAF90Schizop"	"2020-12-04"
"GENCC_000106-HGNC_11595-OMIM_143400-HP_0000005-GENCC_100004"	"HGNC:11595"	"TBX18"	"MONDO:0027676"	"congenital anomalies of kidney and urinary tract 2"	"OMIM:143400"	"Congenital anomalies of kidney and urinary tract 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11595"	"TBX18"	"OMIM:143400"	"congenital anomalies of kidney and urinary tract 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"16511601, 222810, 248118, 250978, 26235987, 28566479, 29904178, 30143558, 30578417, 34059960, 34853893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX180Congenit02"	"2023-11-30"
"GENCC_000106-HGNC_11603-OMIM_147891-HP_0000006-GENCC_100002"	"HGNC:11603"	"TBX4"	"MONDO:0007841"	"coxopodopatellar syndrome"	"OMIM:147891"	"Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11603"	"TBX4"	"OMIM:147891"	"coxopodopatellar syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-30 15:03:28"	""	""	"15106123, 23592887, 29650961, 31151956, 32079640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX40TBX4rel"	"2023-11-30"
"GENCC_000106-HGNC_11608-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:11608"	"TBXA2R"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11608"	"TBXA2R"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-19 20:04:35"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/24"	"TBXA2R0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_11621-OMIM_144700-HP_0000005-GENCC_100008"	"HGNC:11621"	"HNF1A"	"MONDO:0007763"	"nonpapillary renal cell carcinoma"	"OMIM:144700"	"{Renal cell carcinoma}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11621"	"HNF1A"	"OMIM:144700"	"Renal cell carcinoma"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-21 20:04:35"	""	""	"15649945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/25"	"HNF1A0RenalCel"	"2020-12-04"
"GENCC_000106-HGNC_11743-OMIM_169100-HP_0000006-GENCC_100002"	"HGNC:11743"	"TFAP2B"	"MONDO:0008209"	"Char syndrome"	"OMIM:169100"	"Char syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11743"	"TFAP2B"	"OMIM:169100"	"Char syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:30"	""	""	"10802654, 15684060, 21643846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFAP2B0CharSynd"	"2023-11-30"
"GENCC_000106-HGNC_11764-OMIM_274700-HP_0000007-GENCC_100002"	"HGNC:11764"	"TG"	"MONDO:0010135"	"thyroid dyshormonogenesis 3"	"OMIM:274700"	"Thyroid dyshormonogenesis 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11764"	"TG"	"OMIM:274700"	"thyroid dyshormonogenesis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"12915634, 16720658, 19837936, 23164529, 250556, 251032, 251482, 282464"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TG0ThyroidD"	"2023-11-30"
"GENCC_000106-HGNC_11787-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:11787"	"THBS3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11787"	"THBS3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-16 20:04:35"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/28"	"THBS30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_11799-OMIM_188570-HP_0000006-GENCC_100002"	"HGNC:11799"	"THRB"	"MONDO:0008569"	"thyroid hormone resistance, generalized, autosomal dominant"	"OMIM:188570"	"Thyroid hormone resistance"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11799"	"THRB"	"OMIM:188570"	"thyroid hormone resistance, generalized, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 18:20:36"	""	""	"15860414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THRB0ThyroidH"	"2023-11-30"
"GENCC_000106-HGNC_12000-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12000"	"TP53BP2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12000"	"TP53BP2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-26 20:04:35"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/32"	"TP53BP20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_123-OMIM_200950-HP_0000005-GENCC_100008"	"HGNC:123"	"ACP2"	"MONDO:0008705"	"lysosomal acid phosphatase deficiency"	"OMIM:200950"	"?Lysosomal acid phosphatase deficiency"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:123"	"ACP2"	"OMIM:200950"	"?Lysosomal acid phosphatase deficiency"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-09 20:04:35"	""	""	"29422769"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/33"	"ACP20Lysosom"	"2020-12-04"
"GENCC_000106-HGNC_12461-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12461"	"UBAP1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12461"	"UBAP1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-15 20:04:35"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/34"	"UBAP10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_12463-OMIM_119540-HP_0000006-GENCC_100008"	"HGNC:12463"	"UBB"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12463"	"UBB"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-24 20:04:36"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/35"	"UBB0CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_1249-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:1249"	"TPX2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1249"	"TPX2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-19 20:04:36"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/36"	"TPX20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_12607-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12607"	"USP1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12607"	"USP1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-20 20:04:36"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/38"	"USP10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_12635-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:12635"	"UTRN"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12635"	"UTRN"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-13 20:04:36"	""	""	"23163995, 24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/39"	"UTRN0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_12787-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12787"	"WNT7B"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12787"	"WNT7B"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-31 20:04:36"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/40"	"WNT7B0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_12892-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:12892"	"ZNF112"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12892"	"ZNF112"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-05 20:04:37"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/41"	"ZNF1120Tourette"	"2020-12-04"
"GENCC_000106-HGNC_13007-OMIM_130650-HP_0000005-GENCC_100008"	"HGNC:13007"	"ZNF215"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13007"	"ZNF215"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-03 20:04:37"	""	""	"10762538"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/43"	"ZNF2150Beckwith"	"2020-12-04"
"GENCC_000106-HGNC_13022-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:13022"	"ZNF229"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13022"	"ZNF229"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-10-17 20:04:37"	""	""	"23042115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/44"	"ZNF2290Schizop"	"2020-12-04"
"GENCC_000106-HGNC_13023-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:13023"	"ZNF23"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13023"	"ZNF23"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-02 20:04:37"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/45"	"ZNF230Tourette"	"2020-12-04"
"GENCC_000106-HGNC_13102-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:13102"	"ZNF37A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13102"	"ZNF37A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-09 20:04:37"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/46"	"ZNF37A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_13211-OMIM_169600-HP_0000006-GENCC_100002"	"HGNC:13211"	"ATP2C1"	"MONDO:0008218"	"Hailey-Hailey disease"	"OMIM:169600"	"Hailey-Hailey disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13211"	"ATP2C1"	"OMIM:169600"	"Hailey-Hailey disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:58"	""	""	"10615129, 10767338, 11841554"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2C10Hailey-H"	"2023-11-30"
"GENCC_000106-HGNC_13247-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:13247"	"FAM120A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13247"	"FAM120A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-10-01 20:04:37"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/48"	"FAM120A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_1334-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:1334"	"FAXDC2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1334"	"FAXDC2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-22 20:04:37"	""	""	"25420024, 27689744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/49"	"FAXDC20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_1349-OMIM_159550-HP_0000006-GENCC_100002"	"HGNC:1349"	"SAMD9L"	"MONDO:0008038"	"ataxia-pancytopenia syndrome"	"OMIM:159550"	"Ataxia-pancytopenia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1349"	"SAMD9L"	"OMIM:159550"	"ataxia-pancytopenia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-16 21:38:59"	""	""	"19358830, 27259050, 28202457, 32808377, 36553623"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAMD9L0ATXPC"	"2023-11-30"
"GENCC_000106-HGNC_13617-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:13617"	"FBXO15"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13617"	"FBXO15"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-15 20:04:37"	""	""	"28135719, 28472652, 28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/51"	"FBXO150Tourette"	"2020-12-04"
"GENCC_000106-HGNC_13629-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:13629"	"PABPC5"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13629"	"PABPC5"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2019-07-22 20:04:37"	""	""	"23894120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/52"	"PABPC50Tourette"	"2020-12-04"
"GENCC_000106-HGNC_1371-OMIM_143860-HP_0000007-GENCC_100002"	"HGNC:1371"	"CA12"	"MONDO:0007747"	"isolated hyperchlorhidrosis"	"OMIM:143860"	"Hyperchlorhidrosis, isolated"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1371"	"CA12"	"OMIM:143860"	"isolated hyperchlorhidrosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:45"	""	""	"21035102, 21184099, 26486891, 26911677"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CA120Hyperchl"	"2023-11-30"
"GENCC_000106-HGNC_13764-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:13764"	"RELT"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13764"	"RELT"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-21 20:04:38"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/54"	"RELT0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_13815-OMIM_115300-HP_0000005-GENCC_100004"	"HGNC:13815"	"BCO1"	"MONDO:0007272"	"hereditary hypercarotenemia and vitamin A deficiency"	"OMIM:115300"	"?Hypercarotenemia and vitamin A deficiency, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13815"	"BCO1"	"OMIM:115300"	"hereditary hypercarotenemia and vitamin A deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-01-02 13:49:10"	""	""	"17951468, 27980096"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCO10Hypercar"	"2023-11-30"
"GENCC_000106-HGNC_14068-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:14068"	"HDAC5"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14068"	"HDAC5"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-11-14 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/56"	"HDAC50Tourette"	"2020-12-04"
"GENCC_000106-HGNC_14184-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:14184"	"UNKL"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14184"	"UNKL"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-22 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/57"	"UNKL0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_14373-OMIM_138000-HP_0000006-GENCC_100002"	"HGNC:14373"	"GLMN"	"MONDO:0007672"	"glomuvenous malformation"	"OMIM:138000"	"Glomuvenous malformations"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14373"	"GLMN"	"OMIM:138000"	"glomuvenous malformation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"11845407, 23801931"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLMN0Glomuven"	"2023-11-30"
"GENCC_000106-HGNC_1440-OMIM_166710-HP_0000005-GENCC_100008"	"HGNC:1440"	"CALCR"	"MONDO:0005298"	"osteoporosis"	"OMIM:166710"	"{Osteoporosis}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1440"	"CALCR"	"OMIM:166710"	"{Osteoporosis, postmenopausal, susceptibility}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-21 20:04:38"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/59"	"CALCR0Osteopo02"	"2020-12-04"
"GENCC_000106-HGNC_145-OMIM_155310-HP_0000006-GENCC_100002"	"HGNC:145"	"ACTG2"	"MONDO:0020754"	"visceral myopathy 1"	"OMIM:155310"	"Visceral myopathy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:145"	"ACTG2"	"OMIM:155310"	"visceral myopathy 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 09:28:37"	""	""	" , 24777424, 24901346, 25782675, 26813947, 28383543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTG20Visceral"	"2023-11-30"
"GENCC_000106-HGNC_14638-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:14638"	"ABCA13"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14638"	"ABCA13"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-06 11:57:48"	""	""	"19944402, 23910238, 27712136, 29486958, 48999322, 49435281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA130{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_14718-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:14718"	"OR9I1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14718"	"OR9I1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-22 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/62"	"OR9I10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_14735-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:14735"	"OR4M1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14735"	"OR4M1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-13 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/63"	"OR4M10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_15447-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:15447"	"TLN2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15447"	"TLN2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-01-11 20:04:38"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/64"	"TLN20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_15511-OMIM_182940-HP_0000005-GENCC_100004"	"HGNC:15511"	"VANGL2"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"{Neural tube defects, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15511"	"VANGL2"	"OMIM:182940"	"neural tube defects, susceptibility to"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-10-16 05:02:40"	""	""	"18296642, 20558380, 20738329, 30189017, 37815931"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VANGL20NeuralTu"	"2023-11-30"
"GENCC_000106-HGNC_15590-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15590"	"ARHGEF15"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15590"	"ARHGEF15"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-03-08 20:04:38"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/66"	"ARHGEF150Schizop"	"2020-12-04"
"GENCC_000106-HGNC_15708-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15708"	"PAQR8"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15708"	"PAQR8"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-02 20:04:39"	""	""	"24463507, 24463507, 11676489"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/67"	"PAQR80Schizop"	"2020-12-04"
"GENCC_000106-HGNC_15713-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15713"	"ANAPC5"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15713"	"ANAPC5"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-14 20:04:39"	""	""	"28195569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/68"	"ANAPC50Schizop"	"2020-12-04"
"GENCC_000106-HGNC_15770-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15770"	"ZP4"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15770"	"ZP4"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:40"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/71"	"ZP40Schizop"	"2020-12-04"
"GENCC_000106-HGNC_15772-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:15772"	"ARFGEF1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15772"	"ARFGEF1"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-08-31 17:02:11"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARFGEF10{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_15885-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:15885"	"SYNDIG1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15885"	"SYNDIG1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-19 20:04:40"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/73"	"SYNDIG10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_15889-OMIM_173650-HP_0000007-GENCC_100002"	"HGNC:15889"	"FERMT1"	"MONDO:0008260"	"Kindler syndrome"	"OMIM:173650"	"Kindler syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15889"	"FERMT1"	"OMIM:173650"	"Kindler syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-27 07:27:04"	""	""	"12668616, 14962093, 16675959, 21936020, 29130490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FERMT10KindlerS"	"2023-11-30"
"GENCC_000106-HGNC_15962-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:15962"	"CBX8"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15962"	"CBX8"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-13 20:04:40"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/75"	"CBX80Schizop"	"2020-12-04"
"GENCC_000106-HGNC_16262-OMIM_120433-HP_0000006-GENCC_100002"	"HGNC:16262"	"YAP1"	"MONDO:0007355"	"uveal coloboma-cleft lip and palate-intellectual disability"	"OMIM:120433"	"Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16262"	"YAP1"	"OMIM:120433"	"uveal coloboma-cleft lip and palate-intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-28 15:25:12"	""	""	"16354681, 24462371, 27267789, 28801591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YAP10Coloboma03"	"2023-11-30"
"GENCC_000106-HGNC_16697-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:16697"	"SORCS1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16697"	"SORCS1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-13 20:04:40"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/77"	"SORCS10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_16790-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:16790"	"COLGALT2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16790"	"COLGALT2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-17 20:04:40"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/78"	"COLGALT20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_16816-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:16816"	"CHD5"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16816"	"CHD5"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-01 13:56:55"	""	""	"25420024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD50{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_17-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:17"	"AADAC"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17"	"AADAC"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-05 20:04:41"	""	""	"30886340, 20427753, 29253601, 20427753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/80"	"AADAC0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_17023-OMIM_144700-HP_0000005-GENCC_100008"	"HGNC:17023"	"RNF139"	"MONDO:0007763"	"nonpapillary renal cell carcinoma"	"OMIM:144700"	"{Renal cell carcinoma}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17023"	"RNF139"	"OMIM:144700"	"Renal cell carcinoma 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-09 20:04:41"	""	""	"9689122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/81"	"RNF1390RenalCel05"	"2020-12-04"
"GENCC_000106-HGNC_17053-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:17053"	"PLEKHA6"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17053"	"PLEKHA6"	"OMIM:181500"	"{Schizophrenia, susceptibility to}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-26 20:04:41"	""	""	"24463507, 24576533"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/82"	"PLEKHA60Schizop02"	"2020-12-04"
"GENCC_000106-HGNC_17129-OMIM_201100-HP_0000007-GENCC_100002"	"HGNC:17129"	"SLC39A4"	"MONDO:0008713"	"acrodermatitis enteropathica"	"OMIM:201100"	"Acrodermatitis enteropathica"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17129"	"SLC39A4"	"OMIM:201100"	"acrodermatitis enteropathica"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"12955721, 20883266"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC39A40Acroderm"	"2023-11-30"
"GENCC_000106-HGNC_17362-OMIM_119540-HP_0000005-GENCC_100008"	"HGNC:17362"	"ARID5B"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17362"	"ARID5B"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-02 20:04:41"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/84"	"ARID5B0CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_17366-OMIM_238700-HP_0000007-GENCC_100002"	"HGNC:17366"	"AASS"	"MONDO:0009388"	"hyperlysinemia"	"OMIM:238700"	"Hyperlysinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17366"	"AASS"	"OMIM:238700"	"hyperlysinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"23570448, 23890588"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AASS0Hyperlys"	"2023-11-30"
"GENCC_000106-HGNC_17382-OMIM_188470-HP_0000006-GENCC_100008"	"HGNC:17382"	"SRGAP1"	"MONDO:0008566"	"thyroid cancer, nonmedullary, 2"	"OMIM:188470"	"{Thyroid cancer, nonmedullary, 2}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17382"	"SRGAP1"	"OMIM:188470"	"{Thyroid cancer, nonmedullary, 2}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-30 20:04:41"	""	""	"23539728, 23539728"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/86"	"SRGAP10Thyroid02"	"2020-12-04"
"GENCC_000106-HGNC_17521-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:17521"	"ZNF385A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17521"	"ZNF385A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-05 20:04:41"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/87"	"ZNF385A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_17643-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:17643"	"GOPC"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17643"	"GOPC"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-23 20:04:41"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/88"	"GOPC0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_17841-OMIM_119540-HP_0000005-GENCC_100008"	"HGNC:17841"	"MORN5"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17841"	"MORN5"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-22 20:04:41"	""	""	"27630576"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/89"	"MORN50CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_17845-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:17845"	"SULT1B1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17845"	"SULT1B1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-02-19 20:04:41"	""	""	"24463507, 24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/90"	"SULT1B10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_17937-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:17937"	"CUZD1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17937"	"CUZD1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-13 20:04:41"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/91"	"CUZD10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_17992-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:17992"	"TRPM3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17992"	"TRPM3"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-16 20:04:42"	""	""	"24463508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/92"	"TRPM30Schizop"	"2020-12-04"
"GENCC_000106-HGNC_1802-OMIM_146520-HP_0000006-GENCC_100002"	"HGNC:1802"	"CDSN"	"MONDO:0007805"	"hypotrichosis 2"	"OMIM:146520"	"Hypotrichosis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1802"	"CDSN"	"OMIM:146520"	"hypotrichosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:10"	""	""	"12754508, 16307662, 20448140, 23746069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDSN0Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_18039-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:18039"	"KDM5B"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18039"	"KDM5B"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-28 20:04:42"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/94"	"KDM5B0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_18333-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:18333"	"TIGD2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18333"	"TIGD2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-02 20:04:42"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/96"	"TIGD20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_18398-OMIM_136000-HP_0000006-GENCC_100002"	"HGNC:18398"	"SMARCAD1"	"MONDO:0007619"	"isolated congenital adermatoglyphia"	"OMIM:136000"	"Adermatoglyphia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18398"	"SMARCAD1"	"OMIM:136000"	"isolated congenital adermatoglyphia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 07:26:21"	""	""	"21820097, 24664640, 24909267, 26932190, 29269196"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCAD10Adermato"	"2023-11-30"
"GENCC_000106-HGNC_18472-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:18472"	"ZDHHC5"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18472"	"ZDHHC5"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-07-18 20:04:42"	""	""	"29024729"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/98"	"ZDHHC50Schizop"	"2020-12-04"
"GENCC_000106-HGNC_18533-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:18533"	"USP48"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18533"	"USP48"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-06 20:04:42"	""	""	"26666178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/99"	"USP480Schizop"	"2020-12-04"
"GENCC_000106-HGNC_1869-OMIM_143470-HP_0000006-GENCC_100002"	"HGNC:1869"	"CETP"	"MONDO:0007744"	"cholesterol-ester transfer protein deficiency"	"OMIM:143470"	"Hyperalphalipoproteinemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1869"	"CETP"	"OMIM:143470"	"cholesterol-ester transfer protein deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:10"	""	""	"1200546, 16855848, 28428219, 8906592, 9437190, 9508004"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CETP0Hyperalp"	"2023-11-30"
"GENCC_000106-HGNC_18732-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:18732"	"KLHL9"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18732"	"KLHL9"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-10-05 20:04:43"	""	""	"28191890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/101"	"KLHL90Tourette"	"2020-12-04"
"GENCC_000106-HGNC_18762-OMIM_138500-HP_0000006-GENCC_100004"	"HGNC:18762"	"SLC36A2"	"MONDO:0007677"	"hyperglycinuria"	"OMIM:138500"	"[Hyperglycinuria]"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18762"	"SLC36A2"	"OMIM:138500"	"hyperglycinuria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-14 13:38:57"	""	""	"19033659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC36A20Hypergly02"	"2023-11-30"
"GENCC_000106-HGNC_1884-OMIM_167800-HP_0000006-GENCC_100004"	"HGNC:1884"	"CFTR"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1884"	"CFTR"	"OMIM:167800"	"hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-04 12:17:40"	""	""	"1695717, 7691345, 9725922"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFTR0Pancreatitis"	"2023-11-30"
"GENCC_000106-HGNC_1908-OMIM_200150-HP_0000007-GENCC_100002"	"HGNC:1908"	"VPS13A"	"MONDO:0008695"	"chorea-acanthocytosis"	"OMIM:200150"	"Choreoacanthocytosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1908"	"VPS13A"	"OMIM:200150"	"chorea-acanthocytosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:27:05"	""	""	"12404112, 21598378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS13A0Choreoac"	"2023-11-30"
"GENCC_000106-HGNC_19164-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:19164"	"STARD13"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19164"	"STARD13"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-23 20:04:43"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/106"	"STARD130Schizop"	"2020-12-04"
"GENCC_000106-HGNC_19167-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:19167"	"KIF17"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19167"	"KIF17"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-10 20:04:43"	""	""	"20646681, 21521616, 26421900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/107"	"KIF170Schizop"	"2020-12-04"
"GENCC_000106-HGNC_19214-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:19214"	"SHKBP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19214"	"SHKBP1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:43"	""	""	"28135719, 24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/108"	"SHKBP10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_1932-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:1932"	"CHI3L1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1932"	"CHI3L1"	"OMIM:181500"	"{Schizophrenia, susceptibility to} 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-12 20:04:43"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/109"	"CHI3L10Schizop06"	"2020-12-04"
"GENCC_000106-HGNC_19344-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:19344"	"DENND5A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19344"	"DENND5A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-08-24 20:04:43"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/110"	"DENND5A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_1952-OMIM_100100-HP_0000007-GENCC_100002"	"HGNC:1952"	"CHRM3"	"MONDO:0007032"	"prune belly syndrome"	"OMIM:100100"	"Prune belly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1952"	"CHRM3"	"OMIM:100100"	"prune belly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"10944224, 22077972, 31441039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRM30?PruneBe"	"2023-11-30"
"GENCC_000106-HGNC_19916-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:19916"	"KIF24"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19916"	"KIF24"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-03 20:04:43"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/112"	"KIF240Schizop"	"2020-12-04"
"GENCC_000106-HGNC_20297-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:20297"	"SLITRK1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20297"	"SLITRK1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-06-19 20:04:43"	""	""	"27812321, 16224024, 19018236, 16224024, 27708560, 16224024, 18794888"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/113"	"SLITRK10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_20323-OMIM_125400-HP_0000007-GENCC_100002"	"HGNC:20323"	"SMOC2"	"MONDO:0007436"	"dentin dysplasia type I"	"OMIM:125400"	"Dentin dysplasia, type I, with microdontia and misshapen teeth"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20323"	"SMOC2"	"OMIM:125400"	"dentin dysplasia type I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 14:19:49"	""	""	"22152679, 23317772"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMOC20DentinDy"	"2023-11-30"
"GENCC_000106-HGNC_20412-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:20412"	"KRT20"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20412"	"KRT20"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-23 20:04:44"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/115"	"KRT200Schizop"	"2020-12-04"
"GENCC_000106-HGNC_20494-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:20494"	"FSCB"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20494"	"FSCB"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-05-25 20:04:44"	""	""	"20427753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/116"	"FSCB0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_20611-OMIM_113750-HP_0000007-GENCC_100002"	"HGNC:20611"	"SLC24A5"	"MONDO:0018264"	"oculocutaneous albinism type 6"	"OMIM:113750"	"Albinism, oculocutaneous, type VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20611"	"SLC24A5"	"OMIM:113750"	"oculocutaneous albinism type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:18"	""	""	"100404, 120233, 23364476, 23985994, 26686029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC24A50Albinism03"	"2023-11-30"
"GENCC_000106-HGNC_20670-OMIM_200110-HP_0000006-GENCC_100002"	"HGNC:20670"	"TWIST2"	"MONDO:0008693"	"ablepharon macrostomia syndrome"	"OMIM:200110"	"Ablepharon-macrostomia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20670"	"TWIST2"	"OMIM:200110"	"ablepharon macrostomia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-17 09:03:22"	""	""	"26119818"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TWIST20Ablephar"	"2023-11-30"
"GENCC_000106-HGNC_20738-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:20738"	"SYVN1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20738"	"SYVN1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-27 20:04:44"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/119"	"SYVN10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_20788-OMIM_148500-HP_0000006-GENCC_100002"	"HGNC:20788"	"RHBDF2"	"MONDO:0007856"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"OMIM:148500"	"Tylosis with esophageal cancer"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20788"	"RHBDF2"	"OMIM:148500"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:35"	""	""	"2079979, 22265016, 8508402"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHBDF20TylosisW"	"2023-11-30"
"GENCC_000106-HGNC_20821-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:20821"	"COL24A1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20821"	"COL24A1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-19 20:04:44"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/121"	"COL24A10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_20886-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:20886"	"AGPAT5"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20886"	"AGPAT5"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-04-18 20:04:44"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/122"	"AGPAT50Tourette"	"2020-12-04"
"GENCC_000106-HGNC_21086-OMIM_119540-HP_0000005-GENCC_100008"	"HGNC:21086"	"MIB1"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21086"	"MIB1"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-06-13 20:04:44"	""	""	"28767323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/123"	"MIB10CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_21285-OMIM_143870-HP_0000006-GENCC_100002"	"HGNC:21285"	"ADCY10"	"MONDO:0007748"	"hypercalciuria, absorptive, 2"	"OMIM:143870"	"{Hypercalciuria, absorptive, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21285"	"ADCY10"	"OMIM:143870"	"hypercalciuria, absorptive, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 14:50:09"	""	""	"11932268, 25296721, 26787776, 27627854, 31119281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADCY100{Hyperca"	"2023-11-30"
"GENCC_000106-HGNC_21288-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:21288"	"C6orf132"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21288"	"C6orf132"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-09-02 20:04:44"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/125"	"C6orf1320Schizop"	"2020-12-04"
"GENCC_000106-HGNC_2171-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:2171"	"CNTN1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2171"	"CNTN1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-11 20:04:45"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/126"	"CNTN10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_21735-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:21735"	"LHX6"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21735"	"LHX6"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-19 20:04:45"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/127"	"LHX60Schizop"	"2020-12-04"
"GENCC_000106-HGNC_21746-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:21746"	"CPEB3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21746"	"CPEB3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-23 20:04:45"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/128"	"CPEB30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_2176-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:2176"	"CNTN6"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2176"	"CNTN6"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-12-05 20:04:45"	""	""	"28641109"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/129"	"CNTN60Tourette"	"2020-12-04"
"GENCC_000106-HGNC_222-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:222"	"ADAMTS6"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:222"	"ADAMTS6"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-08-20 20:04:45"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/130"	"ADAMTS60Tourette"	"2020-12-04"
"GENCC_000106-HGNC_22209-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:22209"	"STRIP2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:22209"	"STRIP2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-08-12 20:04:45"	""	""	"28608572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/131"	"STRIP20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_22945-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:22945"	"NLRP11"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:22945"	"NLRP11"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-04 20:04:45"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/132"	"NLRP110Tourette"	"2020-12-04"
"GENCC_000106-HGNC_2321-OMIM_121300-HP_0000006-GENCC_100002"	"HGNC:2321"	"CPOX"	"MONDO:0007369"	"hereditary coproporphyria"	"OMIM:121300"	"Coproporphyria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2321"	"CPOX"	"OMIM:121300"	"hereditary coproporphyria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:03"	""	""	"1733615, 19460837, 8012360, 8990017, 9888388"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPOX0Copropor"	"2023-11-30"
"GENCC_000106-HGNC_2321-OMIM_121300-HP_0000007-GENCC_100002"	"HGNC:2321"	"CPOX"	"MONDO:0007369"	"hereditary coproporphyria"	"OMIM:121300"	"Coproporphyria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2321"	"CPOX"	"OMIM:121300"	"hereditary coproporphyria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:03"	""	""	"16159891, 21103937, 24078084, 7757079, 9454777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPOX0Harderop"	"2023-11-30"
"GENCC_000106-HGNC_23505-OMIM_107600-HP_0000006-GENCC_100004"	"HGNC:23505"	"BMS1"	"MONDO:0007145"	"aplasia cutis congenita"	"OMIM:107600"	"?Aplasia cutis congenita, nonsyndromic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23505"	"BMS1"	"OMIM:107600"	"aplasia cutis congenita"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-14 11:44:03"	""	""	"23785305, 245022"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMS10?Aplasia"	"2023-11-30"
"GENCC_000106-HGNC_23594-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:23594"	"VPS13C"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23594"	"VPS13C"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-12 20:04:45"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/136"	"VPS13C0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_24047-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:24047"	"ATL2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24047"	"ATL2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-26 20:04:45"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/137"	"ATL20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_24083-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:24083"	"MAMDC4"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24083"	"MAMDC4"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-05 20:04:45"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/138"	"MAMDC40Schizop"	"2020-12-04"
"GENCC_000106-HGNC_24160-OMIM_117210-HP_0000006-GENCC_100002"	"HGNC:24160"	"BEAN1"	"MONDO:0007296"	"spinocerebellar ataxia type 31"	"OMIM:117210"	"Spinocerebellar ataxia 31"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24160"	"BEAN1"	"OMIM:117210"	"spinocerebellar ataxia type 31"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:59"	""	""	"19878914, 22049201, 23607545, 28362824"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BEAN10SCA"	"2023-11-30"
"GENCC_000106-HGNC_24224-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:24224"	"CDK12"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24224"	"CDK12"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-03 20:04:46"	""	""	"30333958, 28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/140"	"CDK120Tourette"	"2020-12-04"
"GENCC_000106-HGNC_2456-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:2456"	"CSNK1G3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2456"	"CSNK1G3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-08-22 20:04:46"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/141"	"CSNK1G30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_24713-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:24713"	"QRICH1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24713"	"QRICH1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-11 20:04:46"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/142"	"QRICH10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_24725-OMIM_127000-HP_0000006-GENCC_100002"	"HGNC:24725"	"FAM111A"	"MONDO:0007478"	"autosomal dominant Kenny-Caffey syndrome"	"OMIM:127000"	"Kenny-Caffey syndrome, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24725"	"FAM111A"	"OMIM:127000"	"autosomal dominant Kenny-Caffey syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-12 09:17:52"	""	""	"23684011, 23996431, 24635597, 24970356, 26384470, 26489029, 28138333, 32765931, 32996714, 33010201, 33258288, 33263187, 35250876, 35591945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM111A0Kenny-Ca"	"2023-11-30"
"GENCC_000106-HGNC_24820-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:24820"	"ENTREP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24820"	"FAM189A2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:46"	""	""	"20602916, 25420024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/144"	"FAM189A20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_25192-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:25192"	"ARL8A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25192"	"ARL8A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-12 20:04:46"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/145"	"ARL8A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_25369-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:25369"	"POM121L12"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25369"	"POM121L12"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-12 20:04:46"	""	""	"2842652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/146"	"POM121L120Tourette"	"2020-12-04"
"GENCC_000106-HGNC_25539-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:25539"	"RFWD3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25539"	"RFWD3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-29 20:04:46"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/147"	"RFWD30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_25640-OMIM_142669-HP_0000006-GENCC_100004"	"HGNC:25640"	"UFSP2"	"MONDO:0007726"	"hip dysplasia, Beukes type"	"OMIM:142669"	"?Hip dysplasia, Beukes type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25640"	"UFSP2"	"OMIM:142669"	"hip dysplasia, Beukes type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-10-31 10:06:45"	""	""	"26428751, 28892125, 32755715"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UFSP20?HipDysp"	"2023-11-30"
"GENCC_000106-HGNC_25662-OMIM_148600-HP_0000006-GENCC_100002"	"HGNC:25662"	"AAGAB"	"MONDO:0007858"	"palmoplantar keratoderma, punctate type 1A"	"OMIM:148600"	"Keratoderma, palmoplantar, punctate type IA"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25662"	"AAGAB"	"OMIM:148600"	"palmoplantar keratoderma, punctate type 1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-05 10:19:44"	""	""	"12609775, 23000146, 23064416, 23563198, 23633024, 24390136, 246194"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AAGAB0Keratode"	"2023-11-30"
"GENCC_000106-HGNC_25732-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:25732"	"KLHL25"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25732"	"KLHL25"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-04-15 20:04:46"	""	""	"25363768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/150"	"KLHL250Schizop"	"2020-12-04"
"GENCC_000106-HGNC_25928-OMIM_251300-HP_0000007-GENCC_100002"	"HGNC:25928"	"WDR73"	"MONDO:0033005"	"Galloway-Mowat syndrome 1"	"OMIM:251300"	"Galloway-Mowat syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25928"	"WDR73"	"OMIM:251300"	"Galloway-Mowat syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-16 15:07:01"	""	""	"234962, 245506, 249012, 251300, 25466283, 25873735, 26123727, 27001912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR730Galloway"	"2023-11-30"
"GENCC_000106-HGNC_2594-OMIM_139300-HP_0000006-GENCC_100004"	"HGNC:2594"	"CYP19A1"	"MONDO:0007690"	"aromatase excess syndrome"	"OMIM:139300"	"Aromatase excess syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2594"	"CYP19A1"	"OMIM:139300"	"aromatase excess syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-22 14:47:30"	""	""	"12736278, 17584767, 21470988, 24064691, 24102311, 30530883, 33351351"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP19A10Aromatas02"	"2023-11-30"
"GENCC_000106-HGNC_26057-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:26057"	"NMRK1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26057"	"NMRK1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-28 20:04:47"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/153"	"NMRK10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_2610-OMIM_122700-HP_0000005-GENCC_100008"	"HGNC:2610"	"CYP2A6"	"MONDO:0007390"	"coumarin resistance"	"OMIM:122700"	"Coumarin resistance"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2610"	"CYP2A6"	"OMIM:122700"	"Coumarin resistance"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-22 20:04:47"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/154"	"CYP2A60Coumarin"	"2020-12-04"
"GENCC_000106-HGNC_2610-OMIM_188890-HP_0000005-GENCC_100008"	"HGNC:2610"	"CYP2A6"	"MONDO:0008575"	"nicotine dependence"	"OMIM:188890"	"{Nicotine addiction, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2610"	"CYP2A6"	"OMIM:188890"	"{Nicotine addiction, protection from}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-22 20:04:47"	""	""	"18360915"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/155"	"CYP2A60Nicotin02"	"2020-12-04"
"GENCC_000106-HGNC_26533-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:26533"	"CCDC7"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26533"	"CCDC7"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-08 20:04:47"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/156"	"CCDC70Tourette"	"2020-12-04"
"GENCC_000106-HGNC_26539-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:26539"	"DCST1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26539"	"DCST1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-13 20:04:47"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/157"	"DCST10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_26541-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:26541"	"GARIN4"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26541"	"FAM71A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-01 20:04:47"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/158"	"FAM71A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_26726-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:26726"	"ZNF565"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26726"	"ZNF565"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-05 20:04:47"	""	""	"21743468"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/159"	"ZNF5650Schizop"	"2020-12-04"
"GENCC_000106-HGNC_2701-OMIM_157600-HP_0000006-GENCC_100002"	"HGNC:2701"	"DCC"	"MONDO:0008002"	"mirror movements 1"	"OMIM:157600"	"Mirror movements 1 and/or agenesis of the corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2701"	"DCC"	"OMIM:157600"	"mirror movements 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-04 16:47:02"	""	""	"21242494, 24808016, 25813273, 29366874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCC0MirrorMo02"	"2023-11-30"
"GENCC_000106-HGNC_2701-OMIM_114500-HP_0000005-GENCC_100008"	"HGNC:2701"	"DCC"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2701"	"DCC"	"OMIM:114500"	"Colorectal cancer, somatic 5"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:47"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/161"	"DCC0Colorect06"	"2020-12-04"
"GENCC_000106-HGNC_2701-OMIM_133239-HP_0000005-GENCC_100008"	"HGNC:2701"	"DCC"	"MONDO:0007576"	"esophageal cancer"	"OMIM:133239"	"Esophageal carcinoma, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2701"	"DCC"	"OMIM:133239"	"Esophageal carcinoma, somatic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-24 20:04:47"	""	""	"25644941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/162"	"DCC0Esophage03"	"2020-12-04"
"GENCC_000106-HGNC_27364-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:27364"	"HEPACAM2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:27364"	"HEPACAM2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-02 20:04:47"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/163"	"HEPACAM20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28071-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28071"	"ZNF799"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28071"	"ZNF799"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-12 20:04:48"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/164"	"ZNF7990Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28510-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:28510"	"GLIS3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28510"	"GLIS3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-30 22:31:13"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLIS30Tourette"	"2023-11-30"
"GENCC_000106-HGNC_28605-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:28605"	"SNX31"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28605"	"SNX31"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-08 20:04:48"	""	""	"23911319"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/166"	"SNX310Schizop"	"2020-12-04"
"GENCC_000106-HGNC_28611-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28611"	"RICTOR"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28611"	"RICTOR"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-09 20:04:48"	""	""	"28608572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/167"	"RICTOR0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28627-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:28627"	"TCP11L2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28627"	"TCP11L2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-15 20:04:48"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/168"	"TCP11L20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_28733-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28733"	"LCN12"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28733"	"LCN12"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-26 20:04:48"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/169"	"LCN120Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28751-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28751"	"LYPD6"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28751"	"LYPD6"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-10-09 20:04:48"	""	""	"31055822, 22085900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/170"	"LYPD60Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28867-OMIM_125853-HP_0000005-GENCC_100008"	"HGNC:28867"	"IGF2BP2"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28867"	"IGF2BP2"	"OMIM:125853"	"{Diabetes mellitus, noninsulin-dependent, susceptibility to} 5"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-07 20:04:48"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/171"	"IGF2BP20Diabete012"	"2020-12-04"
"GENCC_000106-HGNC_28954-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:28954"	"PPWD1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28954"	"PPWD1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-07 20:04:48"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/172"	"PPWD10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28982-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:28982"	"HMGXB3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28982"	"HMGXB3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-12-16 20:04:48"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/173"	"HMGXB30Tourette"	"2020-12-04"
"GENCC_000106-HGNC_28993-OMIM_194380-HP_0000006-GENCC_100002"	"HGNC:28993"	"PIEZO1"	"MONDO:0008689"	"dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"OMIM:194380"	"Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28993"	"PIEZO1"	"OMIM:194380"	"dehydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-25 17:26:08"	""	""	"22529292, 23479567, 23487776, 23581886, 23695678, 23973043, 24314002, 28716860"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIEZO10DehydratStom"	"2023-11-30"
"GENCC_000106-HGNC_29013-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29013"	"CLEC16A"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29013"	"CLEC16A"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-29 20:04:48"	""	""	"26987296, 24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/175"	"CLEC16A0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29044-OMIM_119540-HP_0000005-GENCC_100004"	"HGNC:29044"	"DENND4B"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29044"	"DENND4B"	"OMIM:119540"	"Cleft palate, isolated"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-12-20 20:04:49"	""	""	"28600779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/176"	"DENND4B0CleftPal02"	"2020-12-04"
"GENCC_000106-HGNC_29174-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29174"	"WASHC4"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29174"	"WASHC4"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-01 20:04:49"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/177"	"WASHC40Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29223-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29223"	"ANKRD50"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29223"	"ANKRD50"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-31 20:04:49"	""	""	"29884787, 28135719, 28191890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/178"	"ANKRD500Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29284-OMIM_136630-HP_0000005-GENCC_100008"	"HGNC:29284"	"DIP2B"	"MONDO:0007634"	"intellectual disability, FRA12A type"	"OMIM:136630"	"Intellectual developmental disorder, autosomal dominant, FRA12A type"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29284"	"DIP2B"	"OMIM:136630"	"Mental retardation, FRA12A type"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-17 20:04:49"	""	""	"17236128"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/179"	"DIP2B0MentalRe026"	"2020-12-04"
"GENCC_000106-HGNC_29313-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29313"	"ZDBF2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29313"	"ZDBF2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-05-02 20:04:49"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/180"	"ZDBF20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29365-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29365"	"ZNF518B"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29365"	"ZNF518B"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-02 20:04:49"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/181"	"ZNF518B0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_2956-OMIM_152700-HP_0000005-GENCC_100008"	"HGNC:2956"	"DNASE1"	"MONDO:0007915"	"systemic lupus erythematosus"	"OMIM:152700"	"{Systemic lupus erythematosus, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2956"	"DNASE1"	"OMIM:152700"	"{Systemic lupus erythematosus, susceptibility to}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-21 20:04:49"	""	""	"30758851, 11479590, 11479590, 15593183, 15593183"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/182"	"DNASE10Systemi"	"2020-12-04"
"GENCC_000106-HGNC_29605-OMIM_133100-HP_0000005-GENCC_100008"	"HGNC:29605"	"SH2B3"	"MONDO:0007572"	"primary familial polycythemia due to EPO receptor mutation"	"OMIM:133100"	"[Erythrocytosis, familial, 1]"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29605"	"SH2B3"	"OMIM:133100"	"Erythrocytosis, somatic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-09 20:04:49"	""	""	"27651169, 27651169, 29703677, 27216218, 27237057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/183"	"SH2B30Erythroc02"	"2020-12-04"
"GENCC_000106-HGNC_29605-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29605"	"SH2B3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29605"	"SH2B3"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-12-06 20:04:49"	""	""	"26666178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/184"	"SH2B30Schizop"	"2020-12-04"
"GENCC_000106-HGNC_29605-OMIM_187950-HP_0000005-GENCC_100008"	"HGNC:29605"	"SH2B3"	"MONDO:0008554"	"thrombocythemia 1"	"OMIM:187950"	"Thrombocythemia, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29605"	"SH2B3"	"OMIM:187950"	"Thrombocythemia, somatic 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-09 20:04:49"	""	""	"24777453, 27216218, 27237057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/185"	"SH2B30Thromboc03"	"2020-12-04"
"GENCC_000106-HGNC_29917-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:29917"	"MDM1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29917"	"MDM1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-29 20:04:49"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/186"	"MDM10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_30052-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30052"	"NUP210"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30052"	"NUP210"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-07 20:04:49"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/187"	"NUP2100Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3014-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:3014"	"DPYSL2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3014"	"DPYSL2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-19 20:04:49"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/188"	"DPYSL20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3026-OMIM_143465-HP_0000005-GENCC_100008"	"HGNC:3026"	"DRD5"	"MONDO:0007743"	"attention deficit-hyperactivity disorder"	"OMIM:143465"	"{Attention deficit-hyperactivity disorder}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3026"	"DRD5"	"OMIM:143465"	"{Attention deficit-hyperactivity disorder, susceptibility to}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-07 20:04:50"	""	""	"27480019"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/189"	"DRD50Attenti03"	"2020-12-04"
"GENCC_000106-HGNC_30286-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30286"	"RUNDC3B"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30286"	"RUNDC3B"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-07-31 20:04:50"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/190"	"RUNDC3B0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_30298-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30298"	"UIMC1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30298"	"UIMC1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-16 20:04:50"	""	""	"28195569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/191"	"UIMC10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_30375-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30375"	"CD163L1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30375"	"CD163L1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-17 20:04:50"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/192"	"CD163L10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3048-OMIM_148700-HP_0000006-GENCC_100002"	"HGNC:3048"	"DSG1"	"MONDO:0007859"	"palmoplantar keratoderma i, striate, focal, or diffuse"	"OMIM:148700"	"Keratosis palmoplantaris striata I, AD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3048"	"DSG1"	"OMIM:148700"	"palmoplantar keratoderma i, striate, focal, or diffuse"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:06"	""	""	"19018793, 27534273, 34657339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSG10Keratosi02"	"2023-11-30"
"GENCC_000106-HGNC_30494-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:30494"	"USF3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30494"	"USF3"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-14 20:04:50"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/194"	"USF30Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3053-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:3053"	"EPYC"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3053"	"EPYC"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-16 20:04:50"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/195"	"EPYC0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_30691-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:30691"	"KBTBD8"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30691"	"KBTBD8"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-10-05 20:04:50"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/196"	"KBTBD80Tourette"	"2020-12-04"
"GENCC_000106-HGNC_30860-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:30860"	"LSM11"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30860"	"LSM11"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-20 20:04:50"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/197"	"LSM110Tourette"	"2020-12-04"
"GENCC_000106-HGNC_30927-OMIM_138500-HP_0000005-GENCC_100008"	"HGNC:30927"	"SLC6A20"	"MONDO:0007677"	"hyperglycinuria"	"OMIM:138500"	"[Hyperglycinuria]"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30927"	"SLC6A20"	"OMIM:138500"	"Hyperglycinuria 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-14 20:04:50"	""	""	"19033659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/198"	"SLC6A200Hypergly03"	"2020-12-04"
"GENCC_000106-HGNC_30959-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:30959"	"ZC3H7A"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30959"	"ZC3H7A"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-01 20:04:50"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/199"	"ZC3H7A0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_31399-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:31399"	"SLC6A17"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:31399"	"SLC6A17"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-29 20:04:50"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/200"	"SLC6A170Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3146-OMIM_145500-HP_0000005-GENCC_100008"	"HGNC:3146"	"ECE1"	"MONDO:0007781"	"essential hypertension, genetic"	"OMIM:145500"	"Hypertension, essential"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3146"	"ECE1"	"OMIM:145500"	"{Hypertension, essential, susceptibility to} 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-05-16 20:04:51"	""	""	"12566389"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/201"	"ECE10Hyperte09"	"2020-12-04"
"GENCC_000106-HGNC_31928-OMIM_139090-HP_0000007-GENCC_100002"	"HGNC:31928"	"NBEAL2"	"MONDO:0007686"	"gray platelet syndrome"	"OMIM:139090"	"Gray platelet syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:31928"	"NBEAL2"	"OMIM:139090"	"gray platelet syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:12:13"	""	""	"20709904, 21765411, 21765412, 23100277"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NBEAL20GrayPlat"	"2023-11-30"
"GENCC_000106-HGNC_32-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:32"	"ABCA2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:32"	"ABCA2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-09-14 20:04:51"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/203"	"ABCA20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_32934-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:32934"	"SLCO1B7"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:32934"	"SLCO1B7"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-09-13 20:04:51"	""	""	"24463507, 26666178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/204"	"SLCO1B70Schizop"	"2020-12-04"
"GENCC_000106-HGNC_33185-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:33185"	"DBX1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:33185"	"DBX1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-19 20:04:51"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/205"	"DBX10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_3337-OMIM_125630-HP_0000005-GENCC_100004"	"HGNC:3337"	"ADGRE2"	"MONDO:0007447"	"autosomal dominant vibratory urticaria"	"OMIM:125630"	"Vibratory urticaria"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3337"	"ADGRE2"	"OMIM:125630"	"autosomal dominant vibratory urticaria"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-31 12:47:39"	""	""	"26841242, 30445064, 32222457, 33726816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADGRE20Vibrator"	"2023-11-30"
"GENCC_000106-HGNC_336-OMIM_145500-HP_0000005-GENCC_100008"	"HGNC:336"	"AGTR1"	"MONDO:0007781"	"essential hypertension, genetic"	"OMIM:145500"	"Hypertension, essential"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:336"	"AGTR1"	"OMIM:145500"	"{Hypertension, essential}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-03-04 20:04:51"	""	""	"28973083, 28973083, 31858452, 28973083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/207"	"AGTR10Hyperte04"	"2020-12-04"
"GENCC_000106-HGNC_34005-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:34005"	"POM121C"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:34005"	"POM121C"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-13 20:04:51"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/208"	"POM121C0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3402-OMIM_143890-HP_0000006-GENCC_100008"	"HGNC:3402"	"EPHX2"	"MONDO:0007750"	"hypercholesterolemia, familial, 1"	"OMIM:143890"	"Hypercholesterolemia, familial, 1"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3402"	"EPHX2"	"OMIM:143890"	"{Hypercholesterolemia, familial, due to LDLR defect, modifier of}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-24 20:04:51"	""	""	"25363768, 29629376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/209"	"EPHX20Hyperch02"	"2020-12-04"
"GENCC_000106-HGNC_3488-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:3488"	"ETS1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3488"	"ETS1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-05-03 20:04:51"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/210"	"ETS10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_35-OMIM_192605-HP_0000005-GENCC_100004"	"HGNC:35"	"ABCA5"	"MONDO:0008648"	"ventricular tachycardia, familial"	"OMIM:192605"	"Ventricular tachycardia, idiopathic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:35"	"ABCA5"	"OMIM:192605"	"ventricular tachycardia, familial"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-10 16:50:03"	""	""	"32939586"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA50Ventricu03"	"2023-11-30"
"GENCC_000106-HGNC_3503-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:3503"	"EVPL"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3503"	"EVPL"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-25 20:04:51"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/212"	"EVPL0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_3559-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:3559"	"FABP4"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3559"	"FABP4"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-23 20:04:51"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/213"	"FABP40Schizop"	"2020-12-04"
"GENCC_000106-HGNC_3603-OMIM_182212-HP_0000005-GENCC_100004"	"HGNC:3603"	"FBN1"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3603"	"FBN1"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-18 19:09:04"	""	""	"19293843, 8563763"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBN10ShprintzenGold"	"2023-11-30"
"GENCC_000106-HGNC_3618-OMIM_152700-HP_0000005-GENCC_100008"	"HGNC:3618"	"FCGR2B"	"MONDO:0007915"	"systemic lupus erythematosus"	"OMIM:152700"	"{Systemic lupus erythematosus, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3618"	"FCGR2B"	"OMIM:152700"	"{Systemic lupus erythematosus, susceptibility to} 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-07 20:04:52"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/215"	"FCGR2B0Systemi02"	"2020-12-04"
"GENCC_000106-HGNC_3683-OMIM_190330-HP_0000007-GENCC_100008"	"HGNC:3683"	"FGF5"	"MONDO:0008593"	"trichomegaly"	"OMIM:190330"	"Trichomegaly"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3683"	"FGF5"	"OMIM:190330"	"Trichomegaly"	"HP:0000007"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-06 20:04:52"	""	""	"24989505, 7923352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/216"	"FGF50Trichome"	"2020-12-04"
"GENCC_000106-HGNC_3706-OMIM_147480-HP_0000005-GENCC_100004"	"HGNC:3706"	"ATP8B1"	"MONDO:0007829"	"cholestasis, intrahepatic, of pregnancy, 1"	"OMIM:147480"	"Cholestasis, intrahepatic, of pregnancy, 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3706"	"ATP8B1"	"OMIM:147480"	"cholestasis, intrahepatic, of pregnancy, 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"15657619, 15888793, 19731236, 28733223, 28924228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP8B10Cholesta03"	"2023-11-30"
"GENCC_000106-HGNC_3826-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:3826"	"FPR1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3826"	"FPR1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-12-13 20:04:52"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/218"	"FPR10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_4217-OMIM_187300-HP_0000006-GENCC_100002"	"HGNC:4217"	"GDF2"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"OMIM:187300"	"Telangiectasia, hereditary hemorrhagic, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4217"	"GDF2"	"OMIM:187300"	"telangiectasia, hereditary hemorrhagic, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:46:48"	""	""	"23972370, 27081547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF20HHT"	"2023-11-30"
"GENCC_000106-HGNC_4238-OMIM_187900-HP_0000006-GENCC_100002"	"HGNC:4238"	"GFI1B"	"MONDO:0008553"	"platelet-type bleeding disorder 17"	"OMIM:187900"	"Bleeding disorder, platelet-type, 17"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4238"	"GFI1B"	"OMIM:187900"	"platelet-type bleeding disorder 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-19 09:00:22"	""	""	"23927492, 24325358, 27479822, 33472357"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFI1B0Bleeding03"	"2023-11-30"
"GENCC_000106-HGNC_4291-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:4291"	"GK2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4291"	"GK2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-04 20:04:52"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/221"	"GK20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_4379-OMIM_145981-HP_0000006-GENCC_100002"	"HGNC:4379"	"GNA11"	"MONDO:0007792"	"familial hypocalciuric hypercalcemia 2"	"OMIM:145981"	"Hypocalciuric hypercalcemia, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4379"	"GNA11"	"OMIM:145981"	"familial hypocalciuric hypercalcemia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:40:42"	""	""	"23802516, 26729423, 28194446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNA110Hypocalc02"	"2023-11-30"
"GENCC_000106-HGNC_4385-OMIM_192605-HP_0000005-GENCC_100008"	"HGNC:4385"	"GNAI2"	"MONDO:0008648"	"ventricular tachycardia, familial"	"OMIM:192605"	"Ventricular tachycardia, idiopathic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4385"	"GNAI2"	"OMIM:192605"	"Ventricular tachycardia, idiopathic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-10-05 20:04:52"	""	""	"9637720"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/223"	"GNAI20Ventricu03"	"2020-12-04"
"GENCC_000106-HGNC_4399-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:4399"	"RACK1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4399"	"RACK1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2019-01-04 20:04:52"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/224"	"RACK10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_4401-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:4401"	"GNB5"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4401"	"GNB5"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-11-21 20:04:52"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/225"	"GNB50Schizop"	"2020-12-04"
"GENCC_000106-HGNC_4421-OMIM_146110-HP_0000007-GENCC_100002"	"HGNC:4421"	"GNRHR"	"MONDO:0007794"	"hypogonadotropic hypogonadism 7 with or without anosmia"	"OMIM:146110"	"Hypogonadotropic hypogonadism 7 without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4421"	"GNRHR"	"OMIM:146110"	"hypogonadotropic hypogonadism 7 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-11-02 15:40:18"	""	""	"10084584, 11397871, 12050282, 16968799, 21209029, 22745237, 24002956, 247756, 250532, 25077900, 282190, 282638, 30947225, 9425890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNRHR0Hypogona06"	"2023-11-30"
"GENCC_000106-HGNC_4456-OMIM_125853-HP_0000006-GENCC_100008"	"HGNC:4456"	"GPD2"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4456"	"GPD2"	"OMIM:125853"	"{Diabetes, type 2, susceptibility to}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-12-03 20:04:53"	""	""	"9070847, 11822825"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/227"	"GPD20Diabete08"	"2020-12-04"
"GENCC_000106-HGNC_4713-OMIM_130650-HP_0000006-GENCC_100002"	"HGNC:4713"	"H19"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4713"	"H19"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100002"	"STRONG"	"2020-05-28 20:04:53"	""	""	"24154661, 23118352, 20007505, 24154661, 21863054"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/228"	"H190Beckwith"	"2020-12-04"
"GENCC_000106-HGNC_4847-OMIM_161400-HP_0000006-GENCC_100008"	"HGNC:4847"	"HCRT"	"MONDO:0008062"	"narcolepsy 1"	"OMIM:161400"	"?Narcolepsy 1"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4847"	"HCRT"	"OMIM:161400"	"?Narcolepsy 1"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-13 20:04:53"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/229"	"HCRT0Narcole"	"2020-12-04"
"GENCC_000106-HGNC_4855-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:4855"	"HDC"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4855"	"HDC"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-21 08:49:39"	""	""	"20445167, 24411733, 27708560, 31589614, 31824749"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HDC0Tourette"	"2023-11-30"
"GENCC_000106-HGNC_494-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:494"	"ANK3"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:494"	"ANK3"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANK30Tourette"	"2023-11-30"
"GENCC_000106-HGNC_5009-OMIM_150699-HP_0000005-GENCC_100008"	"HGNC:5009"	"HMGA2"	"MONDO:0007886"	"uterine corpus leiomyoma"	"OMIM:150699"	"OMIM:150699"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5009"	"HMGA2"	"OMIM:150699"	"Leiomyoma, uterine, somatic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-05 20:04:53"	""	""	"19132395"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/232"	"HMGA20Leiomyom"	"2020-12-04"
"GENCC_000106-HGNC_5010-OMIM_125853-HP_0000006-GENCC_100004"	"HGNC:5010"	"HMGA1"	"MONDO:0005148"	"type 2 diabetes mellitus"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5010"	"HMGA1"	"OMIM:125853"	"diabetes mellitus, noninsulin-dependent"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-19 08:37:12"	""	""	"15924147, 21364139"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMGA10{Diabete07"	"2023-11-30"
"GENCC_000106-HGNC_5030-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:5030"	"HNRNPA0"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5030"	"HNRNPA0"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-10-05 20:04:53"	""	""	"29738522, 25716654, 28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/234"	"HNRNPA00Tourette"	"2020-12-04"
"GENCC_000106-HGNC_5102-OMIM_140000-HP_0000006-GENCC_100002"	"HGNC:5102"	"HOXA13"	"MONDO:0007698"	"hand-foot-genital syndrome"	"OMIM:140000"	"Hand-foot-genital syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5102"	"HOXA13"	"OMIM:140000"	"hand-foot-genital syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-10 15:07:42"	""	""	"10839976, 24934387, 29177010"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXA130Hand-Foo"	"2023-11-30"
"GENCC_000106-HGNC_5133-OMIM_192950-HP_0000006-GENCC_100004"	"HGNC:5133"	"HOXD10"	"MONDO:0008652"	"congenital vertical talus"	"OMIM:192950"	"Charcot-Marie-Tooth disease, foot deformity of"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5133"	"HOXD10"	"OMIM:192950"	"congenital vertical talus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-30 09:19:21"	""	""	"15146389, 16450407"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXD100Charcot-"	"2023-11-30"
"GENCC_000106-HGNC_5244-OMIM_182170-HP_0000006-GENCC_100002"	"HGNC:5244"	"HSPA9"	"MONDO:0008422"	"autosomal dominant sideroblastic anemia"	"OMIM:182170"	"Anemia, sideroblastic, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5244"	"HSPA9"	"OMIM:182170"	"autosomal dominant sideroblastic anemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"21123823, 26491070"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPA90ConSidAnem02"	"2023-11-30"
"GENCC_000106-HGNC_562-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:562"	"AP2A2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:562"	"AP2A2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2019-07-23 20:04:54"	""	""	"23042115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/239"	"AP2A20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_5992-OMIM_137215-HP_0000005-GENCC_100008"	"HGNC:5992"	"IL1B"	"MONDO:0007648"	"hereditary diffuse gastric adenocarcinoma"	"OMIM:137215"	"Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5992"	"IL1B"	"OMIM:137215"	"{Gastric cancer risk after H. pylori infection}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-31 20:04:54"	""	""	"28195569, 29924831, 28195569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/240"	"IL1B0Gastric"	"2020-12-04"
"GENCC_000106-HGNC_6015-OMIM_147050-HP_0000005-GENCC_100008"	"HGNC:6015"	"IL4R"	"MONDO:0007817"	"IgE responsiveness, atopic"	"OMIM:147050"	"OMIM:147050"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6015"	"IL4R"	"OMIM:147050"	"{Atopy, susceptibility to} 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-08 20:04:54"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/241"	"IL4R0AtopyS03"	"2020-12-04"
"GENCC_000106-HGNC_6093-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:6093"	"INSRR"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6093"	"INSRR"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-11 20:04:54"	""	""	"31981491, 24463507, 28135719"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/242"	"INSRR0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_6144-OMIM_191830-HP_0000007-GENCC_100002"	"HGNC:6144"	"ITGA8"	"MONDO:0024519"	"renal hypodysplasia/aplasia 1"	"OMIM:191830"	"Renal hypodysplasia/aplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6144"	"ITGA8"	"OMIM:191830"	"renal hypodysplasia/aplasia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:15:18"	""	""	"140625, 212630, 24439109, 24700879, 282006, 29096039, 9054500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGA80RenalHyp"	"2023-11-30"
"GENCC_000106-HGNC_6179-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6179"	"ITPKB"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6179"	"ITPKB"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-10-03 20:04:54"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/244"	"ITPKB0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_6181-OMIM_106190-HP_0000007-GENCC_100004"	"HGNC:6181"	"ITPR2"	"MONDO:0007118"	"isolated anhidrosis with normal sweat glands"	"OMIM:106190"	"?Anhidrosis, isolated, with normal sweat glands"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6181"	"ITPR2"	"OMIM:106190"	"isolated anhidrosis with normal sweat glands"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:57"	""	""	"25329695"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITPR20?Anhidro"	"2023-11-30"
"GENCC_000106-HGNC_619-OMIM_181500-HP_0000006-GENCC_100008"	"HGNC:619"	"APOL2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:619"	"APOL2"	"OMIM:181500"	"{Schizophrenia} 3"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-27 20:04:55"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/246"	"APOL20Schizop05"	"2020-12-04"
"GENCC_000106-HGNC_6292-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:6292"	"KCNN3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6292"	"KCNN3"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-13 15:18:59"	""	""	"11326292, 24206670, 26537360"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNN30{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_6295-OMIM_130650-HP_0000005-GENCC_100004"	"HGNC:6295"	"KCNQ1OT1"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6295"	"KCNQ1OT1"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"15372379, 21920939, 2822824, 29445485, 29602885, 2983146"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ1OT10Beckwith"	"2023-11-30"
"GENCC_000106-HGNC_6401-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6401"	"TNPO1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6401"	"TNPO1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-09 20:04:56"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/251"	"TNPO10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_6416-OMIM_161000-HP_0000006-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0008059"	"Naegeli-Franceschetti-Jadassohn syndrome"	"OMIM:161000"	"Naegeli-Franceschetti-Jadassohn syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6416"	"KRT14"	"OMIM:161000"	"Naegeli-Franceschetti-Jadassohn syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 10:28:30"	""	""	"1303619, 16960809, 18049449, 198318, 21734713, 30968399, 32282935, 7525408, 8496458"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT140Naegeli-"	"2023-11-30"
"GENCC_000106-HGNC_6427-OMIM_167210-HP_0000006-GENCC_100002"	"HGNC:6427"	"KRT17"	"MONDO:0008174"	"pachyonychia congenita 2"	"OMIM:167210"	"Pachyonychia congenita 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6427"	"KRT17"	"OMIM:167210"	"pachyonychia congenita 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10571744, 11348474, 18547302, 20301457, 23278621, 25946540, 26165312, 28794556, 29904921, 9767294"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT170Pachyony02"	"2023-11-30"
"GENCC_000106-HGNC_6427-OMIM_184500-HP_0000006-GENCC_100002"	"HGNC:6427"	"KRT17"	"MONDO:0008485"	"sebocystomatosis"	"OMIM:184500"	"Steatocystoma multiplex"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6427"	"KRT17"	"OMIM:184500"	"sebocystomatosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"19659471, 24371407, 25946540, 26165312, 29218738, 31237972, 9008238, 9767294"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT170Steatocy"	"2023-11-30"
"GENCC_000106-HGNC_6439-OMIM_146800-HP_0000006-GENCC_100002"	"HGNC:6439"	"KRT2"	"MONDO:0007813"	"superficial epidermolytic ichthyosis"	"OMIM:146800"	"Ichthyosis bullosa of Siemens"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6439"	"KRT2"	"OMIM:146800"	"superficial epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 07:07:29"	""	""	"10084318, 10620137, 26581228, 33081034, 34779035, 8077693, 9204966, 9804344"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT20Ichthyos013"	"2023-11-30"
"GENCC_000106-HGNC_6441-OMIM_193900-HP_0000006-GENCC_100002"	"HGNC:6441"	"KRT4"	"MONDO:0008676"	"white sponge nevus 1"	"OMIM:193900"	"White sponge nevus 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6441"	"KRT4"	"OMIM:193900"	"white sponge nevus 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10652003, 12828738, 18992023, 29738605, 7493030"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT40WhiteSpo"	"2023-11-30"
"GENCC_000106-HGNC_6447-OMIM_144200-HP_0000006-GENCC_100002"	"HGNC:6447"	"KRT9"	"MONDO:0007758"	"epidermolytic palmoplantar keratoderma, 1"	"OMIM:144200"	"Palmoplantar keratoderma, epidermolytic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6447"	"KRT9"	"OMIM:144200"	"epidermolytic palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10632938, 21410681, 21715251, 22262370, 27864007, 30666268, 31074163, 33914963, 36076978, 8647270"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT90Palmopla"	"2023-11-30"
"GENCC_000106-HGNC_6458-OMIM_158000-HP_0000005-GENCC_100004"	"HGNC:6458"	"KRT81"	"MONDO:0008009"	"monilethrix"	"OMIM:158000"	"Monilethrix"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6458"	"KRT81"	"OMIM:158000"	"monilethrix"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-05 08:47:55"	""	""	"22628999, 9402962, 9665406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT810Monileth"	"2023-11-30"
"GENCC_000106-HGNC_6460-OMIM_158000-HP_0000006-GENCC_100002"	"HGNC:6460"	"KRT83"	"MONDO:0008009"	"monilethrix"	"OMIM:158000"	"Monilethrix"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6460"	"KRT83"	"OMIM:158000"	"monilethrix"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"15744029, 25557232"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT830Monileth"	"2023-11-30"
"GENCC_000106-HGNC_6463-OMIM_158000-HP_0000006-GENCC_100002"	"HGNC:6463"	"KRT86"	"MONDO:0008009"	"monilethrix"	"OMIM:158000"	"Monilethrix"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6463"	"KRT86"	"OMIM:158000"	"monilethrix"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10504448, 15050877, 25557232, 25809918, 28299823, 9241275, 9402962, 94402962, 9665406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT860Monileth"	"2023-11-30"
"GENCC_000106-HGNC_6628-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6628"	"LLGL1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6628"	"LLGL1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-07 20:04:57"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/261"	"LLGL10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_6692-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:6692"	"LRP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6692"	"LRP1"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"21743468, 26039597, 26666178, 31094488"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP10{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_6700-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6700"	"LRP8"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6700"	"LRP8"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-25 20:04:57"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/263"	"LRP80Tourette"	"2020-12-04"
"GENCC_000106-HGNC_6702-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:6702"	"LRRFIP1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6702"	"LRRFIP1"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-02-12 20:04:57"	""	""	"21795503"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/264"	"LRRFIP10Schizop"	"2020-12-04"
"GENCC_000106-HGNC_6740-OMIM_105200-HP_0000006-GENCC_100002"	"HGNC:6740"	"LYZ"	"MONDO:0007099"	"familial visceral amyloidosis"	"OMIM:105200"	"Amyloidosis, hereditary systemic 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6740"	"LYZ"	"OMIM:105200"	"familial visceral amyloidosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:17"	""	""	"10350460, 10534505, 12709420, 16329101, 17269695, 21574221, 8464497, 8566845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LYZ0Amyloido02"	"2023-11-30"
"GENCC_000106-HGNC_6770-OMIM_139210-HP_0000006-GENCC_100002"	"HGNC:6770"	"SMAD4"	"MONDO:0007688"	"Myhre syndrome"	"OMIM:139210"	"Myhre syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6770"	"SMAD4"	"OMIM:139210"	"Myhre syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-22 19:19:58"	""	""	"22158539, 22243968, 24398790, 27302097, 36194927"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD40MYH"	"2023-11-30"
"GENCC_000106-HGNC_6847-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:6847"	"MAP2K7"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6847"	"MAP2K7"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-25 20:04:57"	""	""	"31219577, 27774567"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/267"	"MAP2K70Schizop"	"2020-12-04"
"GENCC_000106-HGNC_6930-OMIM_202200-HP_0000007-GENCC_100002"	"HGNC:6930"	"MC2R"	"MONDO:0024536"	"glucocorticoid deficiency 1"	"OMIM:202200"	"Glucocorticoid deficiency, due to ACTH unresponsiveness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6930"	"MC2R"	"OMIM:202200"	"glucocorticoid deficiency 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 15:42:22"	""	""	"17989225, 19170705, 1970705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MC2R0Glucocor03"	"2023-11-30"
"GENCC_000106-HGNC_6984-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:6984"	"ME2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6984"	"ME2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-03-26 20:04:57"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/269"	"ME20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_7-OMIM_104300-HP_0000005-GENCC_100008"	"HGNC:7"	"A2M"	"MONDO:0007088"	"Alzheimer disease type 1"	"OMIM:104300"	"Alzheimer disease 1, familial"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7"	"A2M"	"OMIM:104300"	"{Alzheimer disease, susceptibility to}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-20 20:04:57"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/270"	"A2M0Alzheim02"	"2020-12-04"
"GENCC_000106-HGNC_7043-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:7043"	"MGAM"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7043"	"MGAM"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-16 20:04:58"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/271"	"MGAM0Tourette"	"2020-12-04"
"GENCC_000106-HGNC_7102-OMIM_188470-HP_0000005-GENCC_100008"	"HGNC:7102"	"MINPP1"	"MONDO:0008566"	"thyroid cancer, nonmedullary, 2"	"OMIM:188470"	"{Thyroid cancer, nonmedullary, 2}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7102"	"MINPP1"	"OMIM:188470"	"Thyroid carcinoma, follicular"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-16 20:04:58"	""	""	"29248581, 11297621"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/272"	"MINPP10ThyroidC"	"2020-12-04"
"GENCC_000106-HGNC_7211-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:7211"	"MPG"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7211"	"MPG"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-20 20:04:58"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/273"	"MPG0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_7316-OMIM_147050-HP_0000005-GENCC_100008"	"HGNC:7316"	"MS4A2"	"MONDO:0007817"	"IgE responsiveness, atopic"	"OMIM:147050"	"OMIM:147050"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7316"	"MS4A2"	"OMIM:147050"	"{Atopy, susceptibility to} 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-01 20:04:58"	""	""	"10427478"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/274"	"MS4A20AtopyS02"	"2020-12-04"
"GENCC_000106-HGNC_7508-OMIM_174000-HP_0000005-GENCC_100004"	"HGNC:7508"	"MUC1"	"MONDO:0020726"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"OMIM:174000"	"Tubulointerstitial kidney disease, autosomal dominant, 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7508"	"MUC1"	"OMIM:174000"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-12-09 21:31:50"	""	""	"22865819, 23396133, 24509297, 24670410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MUC10Medullar"	"2023-11-30"
"GENCC_000106-HGNC_7533-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:7533"	"MX2"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7533"	"MX2"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-15 20:04:58"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/276"	"MX20Tourette"	"2020-12-04"
"GENCC_000106-HGNC_7553-OMIM_113970-HP_0000005-GENCC_100008"	"HGNC:7553"	"MYC"	"MONDO:0007243"	"Burkitt lymphoma"	"OMIM:113970"	"Burkitt lymphoma, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7553"	"MYC"	"OMIM:113970"	"Burkitt lymphoma"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-12 20:04:58"	""	""	"8220424, 25058500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/277"	"MYC0BurkittL"	"2020-12-04"
"GENCC_000106-HGNC_7658-OMIM_137580-HP_0000005-GENCC_100004"	"HGNC:7658"	"NCBP1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7658"	"NCBP1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2018-10-08 20:04:58"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/278"	"NCBP10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_7681-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:7681"	"NDST2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7681"	"NDST2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-12-28 20:04:58"	""	""	"27694994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/279"	"NDST20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_7873-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:7873"	"NOS2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7873"	"NOS2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-08 20:04:58"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/281"	"NOS20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_7961-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:7961"	"NR0B2"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7961"	"NR0B2"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-12-16 20:04:58"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/282"	"NR0B20Schizop"	"2020-12-04"
"GENCC_000106-HGNC_8008-OMIM_181500-HP_0000005-GENCC_100004"	"HGNC:8008"	"NRXN1"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8008"	"NRXN1"	"OMIM:181500"	"schizophrenia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-16 13:46:46"	""	""	"21424692, 24126932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRXN10{Schizop"	"2023-11-30"
"GENCC_000106-HGNC_812-OMIM_101900-HP_0000006-GENCC_100002"	"HGNC:812"	"ATP2A2"	"MONDO:0007048"	"acrokeratosis verruciformis"	"OMIM:101900"	"Acrokeratosis verruciformis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:812"	"ATP2A2"	"OMIM:101900"	"acrokeratosis verruciformis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:08"	""	""	"12542527, 20518781, 22814319, 25622760, 28498512, 30968598"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2A20Acrokera"	"2023-11-30"
"GENCC_000106-HGNC_812-OMIM_124200-HP_0000006-GENCC_100002"	"HGNC:812"	"ATP2A2"	"MONDO:0007417"	"Darier disease"	"OMIM:124200"	"Darier disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:812"	"ATP2A2"	"OMIM:124200"	"Darier disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-06 12:15:59"	""	""	"10080178, 10441324"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2A20DarierDi"	"2023-11-30"
"GENCC_000106-HGNC_85-OMIM_119540-HP_0000005-GENCC_100004"	"HGNC:85"	"ACACB"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:85"	"ACACB"	"OMIM:119540"	"isolated cleft palate"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-08 12:27:38"	""	""	"28767323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACACB0CleftPal02"	"2023-11-30"
"GENCC_000106-HGNC_8507-OMIM_105250-HP_0000006-GENCC_100002"	"HGNC:8507"	"OSMR"	"MONDO:0024522"	"amyloidosis, primary localized cutaneous, 1"	"OMIM:105250"	"Amyloidosis, primary localized cutaneous, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8507"	"OSMR"	"OMIM:105250"	"amyloidosis, primary localized cutaneous, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:30"	""	""	"17107390, 19690585, 20507362, 23692662, 27289340"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OSMR0Amyloido"	"2023-11-30"
"GENCC_000106-HGNC_854-OMIM_124480-HP_0000006-GENCC_100002"	"HGNC:854"	"ATP6V1B2"	"MONDO:0007420"	"autosomal dominant deafness - onychodystrophy syndrome"	"OMIM:124480"	"Deafness, congenital, with onychodystrophy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:854"	"ATP6V1B2"	"OMIM:124480"	"autosomal dominant deafness - onychodystrophy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-10 09:21:29"	""	""	"24913193, 28396750"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V1B20Deafness03"	"2023-11-30"
"GENCC_000106-HGNC_8618-OMIM_125853-HP_0000005-GENCC_100004"	"HGNC:8618"	"PAX4"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8618"	"PAX4"	"OMIM:125853"	"Diabetes mellitus, type 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100004"	"LIMITED"	"2017-10-03 20:04:59"	""	""	"30528630, 29950431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/289"	"PAX40Diabetes05"	"2020-12-04"
"GENCC_000106-HGNC_8734-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:8734"	"NUP85"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8734"	"NUP85"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-06 20:04:59"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/290"	"NUP850Tourette"	"2020-12-04"
"GENCC_000106-HGNC_8778-OMIM_112410-HP_0000006-GENCC_100002"	"HGNC:8778"	"PDE3A"	"MONDO:0007211"	"brachydactyly-arterial hypertension syndrome"	"OMIM:112410"	"Hypertension and brachydactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8778"	"PDE3A"	"OMIM:112410"	"brachydactyly-arterial hypertension syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:31"	""	""	"25961942, 27053290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE3A0Hyperten"	"2023-11-30"
"GENCC_000106-HGNC_8794-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:8794"	"PDE8B"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8794"	"PDE8B"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-07-22 20:04:59"	""	""	"29767709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/292"	"PDE8B0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_8803-OMIM_119540-HP_0000005-GENCC_100004"	"HGNC:8803"	"PDGFRA"	"MONDO:0007336"	"isolated cleft palate"	"OMIM:119540"	"OMIM:119540"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8803"	"PDGFRA"	"OMIM:119540"	"isolated cleft palate"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-18 23:20:17"	""	""	"22473090, 35147171"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFRA0CleftPal02"	"2023-11-30"
"GENCC_000106-HGNC_894-OMIM_125700-HP_0000006-GENCC_100002"	"HGNC:894"	"AVP"	"MONDO:0007450"	"neurohypophyseal diabetes insipidus"	"OMIM:125700"	"Diabetes insipidus, neurohypophyseal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:894"	"AVP"	"OMIM:125700"	"neurohypophyseal diabetes insipidus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-21 06:40:01"	""	""	"27513365, 27539621"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AVP0Diabetes03"	"2023-11-30"
"GENCC_000106-HGNC_9020-OMIM_102900-HP_0000006-GENCC_100004"	"HGNC:9020"	"PKLR"	"MONDO:0007067"	"pyruvate kinase hyperactivity"	"OMIM:102900"	"[Adenosine triphosphate, elevated, of erythrocytes]"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9020"	"PKLR"	"OMIM:102900"	"pyruvate kinase hyperactivity"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-18 12:33:25"	""	""	"26658699, 9090535"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKLR0Adenosin"	"2023-11-30"
"GENCC_000106-HGNC_9031-OMIM_114500-HP_0000006-GENCC_100008"	"HGNC:9031"	"PLA2G2A"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9031"	"PLA2G2A"	"OMIM:114500"	"{Colorectal cancer}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-11-06 20:04:59"	""	""	"9272153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/296"	"PLA2G2A0Colorec"	"2020-12-04"
"GENCC_000106-HGNC_9060-OMIM_151600-HP_0000007-GENCC_100002"	"HGNC:9060"	"PLCD1"	"MONDO:0007900"	"nonsyndromic congenital nail disorder 3"	"OMIM:151600"	"Nail disorder, nonsyndromic congenital, 3, (leukonychia)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9060"	"PLCD1"	"OMIM:151600"	"nonsyndromic congenital nail disorder 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-01 06:41:30"	""	""	"21665001"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCD10NailDiso03"	"2023-11-30"
"GENCC_000106-HGNC_9060-OMIM_151600-HP_0000006-GENCC_100004"	"HGNC:9060"	"PLCD1"	"MONDO:0007900"	"nonsyndromic congenital nail disorder 3"	"OMIM:151600"	"Nail disorder, nonsyndromic congenital, 3, (leukonychia)"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9060"	"PLCD1"	"OMIM:151600"	"nonsyndromic congenital nail disorder 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-01 06:41:30"	""	""	"21665001, 27783455"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCD10NailDiso02"	"2023-11-30"
"GENCC_000106-HGNC_9153-OMIM_137580-HP_0000006-GENCC_100004"	"HGNC:9153"	"PNKD"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9153"	"PNKD"	"OMIM:137580"	"Tourette syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-19 12:32:32"	""	""	"28894297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNKD0Tourette"	"2023-11-30"
"GENCC_000106-HGNC_9277-OMIM_114480-HP_0000005-GENCC_100008"	"HGNC:9277"	"PPM1D"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9277"	"PPM1D"	"OMIM:114480"	"Breast cancer 2"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-11-02 20:05:00"	""	""	"23242139, 25742468, 27401275, 26823519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/300"	"PPM1D0BreastCa"	"2020-12-04"
"GENCC_000106-HGNC_9279-OMIM_137580-HP_0000005-GENCC_100008"	"HGNC:9279"	"PDP1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9279"	"PDP1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2019-03-14 20:05:00"	""	""	"28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/301"	"PDP10Tourette"	"2020-12-04"
"GENCC_000106-HGNC_9291-OMIM_125853-HP_0000005-GENCC_100008"	"HGNC:9291"	"PPP1R3A"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9291"	"PPP1R3A"	"OMIM:125853"	"Insulin resistance, severe, digenic"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-27 20:05:00"	""	""	"29948331, 25363768, 12118251"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/302"	"PPP1R3A0InsulinR"	"2020-12-04"
"GENCC_000106-HGNC_9316-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:9316"	"PPP3CC"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9316"	"PPP3CC"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-05-23 20:05:00"	""	""	"16721403, 17141475"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/303"	"PPP3CC0Schizop"	"2020-12-04"
"GENCC_000106-HGNC_9586-OMIM_109400-HP_0000005-GENCC_100004"	"HGNC:9586"	"PTCH2"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"OMIM:109400"	"Basal cell nevus syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9586"	"PTCH2"	"OMIM:109400"	"nevoid basal cell carcinoma syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 07:49:51"	""	""	"18285427, 23479190, 30820324, 31945512, 34170463, 35437209"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTCH20BasalNevus"	"2023-11-30"
"GENCC_000106-HGNC_9603-OMIM_145500-HP_0000005-GENCC_100004"	"HGNC:9603"	"PTGIS"	"MONDO:0007781"	"essential hypertension, genetic"	"OMIM:145500"	"Hypertension, essential"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9603"	"PTGIS"	"OMIM:145500"	"essential hypertension, genetic"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-18 09:18:17"	""	""	"12372404, 31453292, 32236489, 9217767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTGIS0Hyperten03"	"2023-11-30"
"GENCC_000106-HGNC_9655-OMIM_181500-HP_0000005-GENCC_100008"	"HGNC:9655"	"PTPN3"	"MONDO:0005090"	"schizophrenia"	"OMIM:181500"	"{Schizophrenia}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9655"	"PTPN3"	"OMIM:181500"	"{Schizophrenia}"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-06-15 20:05:01"	""	""	"24463507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/307"	"PTPN30Schizop"	"2020-12-04"
"GENCC_000106-HGNC_9673-OMIM_114500-HP_0000005-GENCC_100008"	"HGNC:9673"	"PTPRJ"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9673"	"PTPRJ"	"OMIM:114500"	"Colon cancer, somatic 3"	"HP:0000005"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-11 20:05:01"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/308"	"PTPRJ0ColonCan04"	"2020-12-04"
"GENCC_000106-HGNC_9817-OMIM_114480-HP_0000006-GENCC_100008"	"HGNC:9817"	"RAD51"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9817"	"RAD51"	"OMIM:114480"	"{Breast cancer, susceptibility to}"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2017-07-24 20:05:01"	""	""	""	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/309"	"RAD510BreastC"	"2020-12-04"
"GENCC_000106-HGNC_9871-OMIM_187300-HP_0000006-GENCC_100008"	"HGNC:9871"	"RASA1"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"OMIM:187300"	"Telangiectasia, hereditary hemorrhagic, type 1"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9871"	"RASA1"	"OMIM:187300"	"Hereditary hemorrhagic telangiectasia"	"HP:0000006"	""	"GENCC:000106"	"INVITAE"	"GENCC:100008"	"No Known Disease Relationship"	"2020-04-03 20:05:01"	""	""	"24268183"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/310"	"RASA10HHT"	"2020-12-04"
"GENCC_000108-HGNC_59-MONDO_0017182-HP_0000007-GENCC_100001"	"HGNC:59"	"ABCC8"	"MONDO:0017182"	"familial hyperinsulinism"	"MONDO:0017182"	"familial hyperinsulinism"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:59"	"ABCC8"	"MONDO:0017182"	"Familial hyperinsulinism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-18 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"1"	"2020-10-13"
"GENCC_000108-HGNC_186-MONDO_0007064-HP_0000007-GENCC_100001"	"HGNC:186"	"ADA"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:186"	"ADA"	"MONDO:0007064"	"Adenosine deaminase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-26 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"2"	"2020-10-13"
"GENCC_000108-HGNC_318-MONDO_0008830-HP_0000007-GENCC_100001"	"HGNC:318"	"AGA"	"MONDO:0008830"	"aspartylglucosaminuria"	"MONDO:0008830"	"aspartylglucosaminuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:318"	"AGA"	"MONDO:0008830"	"Aspartylglucosaminuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"3"	"2020-10-13"
"GENCC_000108-HGNC_321-MONDO_0009291-HP_0000007-GENCC_100001"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"MONDO:0009291"	"glycogen storage disease III"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:321"	"AGL"	"MONDO:0009291"	"Glycogen storage disease III"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-19 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"4"	"2020-10-13"
"GENCC_000108-HGNC_341-MONDO_0009823-HP_0000007-GENCC_100001"	"HGNC:341"	"AGXT"	"MONDO:0009823"	"primary hyperoxaluria type 1"	"MONDO:0009823"	"primary hyperoxaluria type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:341"	"AGXT"	"MONDO:0009823"	"Primary hyperoxaluria type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"5"	"2020-10-13"
"GENCC_000108-HGNC_360-MONDO_0009411-HP_0000007-GENCC_100001"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"Autoimmune polyendocrine syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"6"	"2020-10-13"
"GENCC_000108-HGNC_403-MONDO_0010031-HP_0000007-GENCC_100001"	"HGNC:403"	"ALDH3A2"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:403"	"ALDH3A2"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"7"	"2020-10-13"
"GENCC_000108-HGNC_417-MONDO_0009249-HP_0000007-GENCC_100001"	"HGNC:417"	"ALDOB"	"MONDO:0009249"	"hereditary fructose intolerance"	"MONDO:0009249"	"hereditary fructose intolerance"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:417"	"ALDOB"	"MONDO:0009249"	"Hereditary fructose intolerance"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-26 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"8"	"2020-10-13"
"GENCC_000108-HGNC_23157-MONDO_0011291-HP_0000007-GENCC_100001"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"Congenital disorder of glycosylation type 1C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-23 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"9"	"2020-10-13"
"GENCC_000108-HGNC_438-MONDO_0018570-HP_0000007-GENCC_100001"	"HGNC:438"	"ALPL"	"MONDO:0018570"	"hypophosphatasia"	"MONDO:0018570"	"hypophosphatasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:438"	"ALPL"	"MONDO:0018570"	"Hypophosphatasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"10"	"2020-10-13"
"GENCC_000108-HGNC_473-MONDO_0011612-HP_0000007-GENCC_100001"	"HGNC:473"	"AMT"	"MONDO:0011612"	"glycine encephalopathy"	"MONDO:0011612"	"glycine encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:473"	"AMT"	"MONDO:0011612"	"Glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-03-13 20:05:02"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"11"	"2020-10-13"
"GENCC_000108-HGNC_663-MONDO_0008814-HP_0000007-GENCC_100001"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"hyperargininemia"	"MONDO:0008814"	"hyperargininemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"Hyperargininemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-09 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"12"	"2020-10-13"
"GENCC_000108-HGNC_713-MONDO_0018868-HP_0000007-GENCC_100001"	"HGNC:713"	"ARSA"	"MONDO:0018868"	"metachromatic leukodystrophy"	"MONDO:0018868"	"metachromatic leukodystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:713"	"ARSA"	"MONDO:0018868"	"Metachromatic leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"13"	"2020-10-13"
"GENCC_000108-HGNC_746-MONDO_0008815-HP_0000007-GENCC_100001"	"HGNC:746"	"ASL"	"MONDO:0008815"	"argininosuccinic aciduria"	"MONDO:0008815"	"argininosuccinic aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:746"	"ASL"	"MONDO:0008815"	"Argininosuccinic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-25 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"14"	"2020-10-13"
"GENCC_000108-HGNC_756-MONDO_0010079-HP_0000007-GENCC_100001"	"HGNC:756"	"ASPA"	"MONDO:0010079"	"Canavan disease"	"MONDO:0010079"	"Canavan disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:756"	"ASPA"	"MONDO:0010079"	"Canavan disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-18 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"15"	"2020-10-13"
"GENCC_000108-HGNC_758-MONDO_0008988-HP_0000007-GENCC_100001"	"HGNC:758"	"ASS1"	"MONDO:0008988"	"citrullinemia type I"	"MONDO:0008988"	"citrullinemia type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:758"	"ASS1"	"MONDO:0008988"	"Citrullinemia type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-14 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"16"	"2020-10-13"
"GENCC_000108-HGNC_966-MONDO_0008854-HP_0000007-GENCC_100001"	"HGNC:966"	"BBS1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:966"	"BBS1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"17"	"2020-10-13"
"GENCC_000108-HGNC_26291-MONDO_0014438-HP_0000007-GENCC_100001"	"HGNC:26291"	"BBS10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:26291"	"BBS10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-25 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"18"	"2020-10-13"
"GENCC_000108-HGNC_26648-MONDO_0014440-HP_0000007-GENCC_100001"	"HGNC:26648"	"BBS12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:26648"	"BBS12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"19"	"2020-10-13"
"GENCC_000108-HGNC_967-MONDO_0014432-HP_0000007-GENCC_100001"	"HGNC:967"	"BBS2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:967"	"BBS2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-21 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"20"	"2020-10-13"
"GENCC_000108-HGNC_986-MONDO_0023691-HP_0000007-GENCC_100001"	"HGNC:986"	"BCKDHA"	"MONDO:0023691"	"maple syrup urine disease type 1A"	"MONDO:0023691"	"maple syrup urine disease type 1A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:986"	"BCKDHA"	"MONDO:0023691"	"Maple syrup urine disease type 1A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"21"	"2020-10-13"
"GENCC_000108-HGNC_987-MONDO_0023692-HP_0000007-GENCC_100001"	"HGNC:987"	"BCKDHB"	"MONDO:0023692"	"maple syrup urine disease type 1B"	"MONDO:0023692"	"maple syrup urine disease type 1B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:987"	"BCKDHB"	"MONDO:0023692"	"Maple syrup urine disease type 1B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:03"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"22"	"2020-10-13"
"GENCC_000108-HGNC_1058-MONDO_0008876-HP_0000007-GENCC_100001"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"MONDO:0008876"	"Bloom syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-18 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"24"	"2020-10-13"
"GENCC_000108-HGNC_1122-MONDO_0009665-HP_0000007-GENCC_100001"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"biotinidase deficiency"	"MONDO:0009665"	"biotinidase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"Biotinidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"25"	"2020-10-13"
"GENCC_000108-HGNC_1133-MONDO_0010421-HP_0001417-GENCC_100001"	"HGNC:1133"	"BTK"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1133"	"BTK"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-26 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"26"	"2020-10-13"
"GENCC_000108-HGNC_1480-MONDO_0009675-HP_0000007-GENCC_100001"	"HGNC:1480"	"CAPN3"	"MONDO:0009675"	"autosomal recessive limb-girdle muscular dystrophy type 2A"	"MONDO:0009675"	"autosomal recessive limb-girdle muscular dystrophy type 2A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1480"	"CAPN3"	"MONDO:0009675"	"Autosomal recessive limb-girdle muscular dystrophy type 2A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-08 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"27"	"2020-10-13"
"GENCC_000108-HGNC_1550-MONDO_0009352-HP_0000007-GENCC_100001"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"classic homocystinuria"	"MONDO:0009352"	"classic homocystinuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"Classic homocystinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-25 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"28"	"2020-10-13"
"GENCC_000108-HGNC_1884-MONDO_0009061-HP_0000007-GENCC_100001"	"HGNC:1884"	"CFTR"	"MONDO:0009061"	"cystic fibrosis"	"MONDO:0009061"	"cystic fibrosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:1884"	"CFTR"	"MONDO:0009061"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-12 20:05:04"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"29"	"2020-10-13"
"GENCC_000108-HGNC_2074-MONDO_0008767-HP_0000007-GENCC_100001"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"Neuronal ceroid lipofuscinosis 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-31 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"31"	"2020-10-13"
"GENCC_000108-HGNC_2076-MONDO_0009745-HP_0000007-GENCC_100001"	"HGNC:2076"	"CLN5"	"MONDO:0009745"	"neuronal ceroid lipofuscinosis 5"	"MONDO:0009745"	"neuronal ceroid lipofuscinosis 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2076"	"CLN5"	"MONDO:0009745"	"Neuronal ceroid lipofuscinosis 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"32"	"2020-10-13"
"GENCC_000108-HGNC_2077-MONDO_0011144-HP_0000007-GENCC_100001"	"HGNC:2077"	"CLN6"	"MONDO:0011144"	"ceroid lipofuscinosis, neuronal, 6A"	"MONDO:0011144"	"ceroid lipofuscinosis, neuronal, 6A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2077"	"CLN6"	"MONDO:0011144"	"Neuronal ceroid lipofuscinosis 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"33"	"2020-10-13"
"GENCC_000108-HGNC_2079-MONDO_0010830-HP_0000007-GENCC_100001"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"Neuronal ceroid lipofuscinosis 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"34"	"2020-10-13"
"GENCC_000108-HGNC_2204-MONDO_0008762-HP_0000007-GENCC_100001"	"HGNC:2204"	"COL4A3"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2204"	"COL4A3"	"MONDO:0008762"	"Autosomal recessive Alport syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-08 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"35"	"2020-10-13"
"GENCC_000108-HGNC_2206-MONDO_0008762-HP_0000007-GENCC_100001"	"HGNC:2206"	"COL4A4"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2206"	"COL4A4"	"MONDO:0008762"	"Autosomal recessive Alport syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"36"	"2020-10-13"
"GENCC_000108-HGNC_2207-MONDO_0010520-HP_0001417-GENCC_100001"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"X-linked Alport syndrome"	"MONDO:0010520"	"X-linked Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"Alport syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"37"	"2020-10-13"
"GENCC_000108-HGNC_2323-MONDO_0009376-HP_0000007-GENCC_100001"	"HGNC:2323"	"CPS1"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2323"	"CPS1"	"MONDO:0009376"	"Carbamoyl phosphate synthetase I deficiency disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"38"	"2020-10-13"
"GENCC_000108-HGNC_2330-MONDO_0015515-HP_0000007-GENCC_100001"	"HGNC:2330"	"CPT2"	"MONDO:0015515"	"carnitine palmitoyltransferase II deficiency"	"MONDO:0015515"	"carnitine palmitoyltransferase II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2330"	"CPT2"	"MONDO:0015515"	"Carnitine Palmitoyltransferase 2 Deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-06 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"39"	"2020-10-13"
"GENCC_000108-HGNC_2518-MONDO_0016239-HP_0000007-GENCC_100001"	"HGNC:2518"	"CTNS"	"MONDO:0016239"	"cystinosis"	"MONDO:0016239"	"cystinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2518"	"CTNS"	"MONDO:0016239"	"Cystinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-18 20:05:05"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"40"	"2020-10-13"
"GENCC_000108-HGNC_2536-MONDO_0009940-HP_0000007-GENCC_100001"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"MONDO:0009940"	"pycnodysostosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"Pycnodysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-09 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"41"	"2020-10-13"
"GENCC_000108-HGNC_2591-MONDO_0008729-HP_0000007-GENCC_100001"	"HGNC:2591"	"CYP11B1"	"MONDO:0008729"	"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"MONDO:0008729"	"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2591"	"CYP11B1"	"MONDO:0008729"	"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"42"	"2020-10-13"
"GENCC_000108-HGNC_2600-MONDO_0008728-HP_0000007-GENCC_100001"	"HGNC:2600"	"CYP21A2"	"MONDO:0008728"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"MONDO:0008728"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2600"	"CYP21A2"	"MONDO:0008728"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"43"	"2020-10-13"
"GENCC_000108-HGNC_2605-MONDO_0008948-HP_0000007-GENCC_100001"	"HGNC:2605"	"CYP27A1"	"MONDO:0008948"	"cerebrotendinous xanthomatosis"	"MONDO:0008948"	"cerebrotendinous xanthomatosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2605"	"CYP27A1"	"MONDO:0008948"	"Cerebrotendinous xanthomatosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-17 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"44"	"2020-10-13"
"GENCC_000108-HGNC_2698-MONDO_0023693-HP_0000007-GENCC_100001"	"HGNC:2698"	"DBT"	"MONDO:0023693"	"maple syrup urine disease type 2"	"MONDO:0023693"	"maple syrup urine disease type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2698"	"DBT"	"MONDO:0023693"	"Maple syrup urine disease, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-28 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"45"	"2020-10-13"
"GENCC_000108-HGNC_2860-MONDO_0010035-HP_0000007-GENCC_100001"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-02-01 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"46"	"2020-10-13"
"GENCC_000108-HGNC_2898-MONDO_0009529-HP_0000007-GENCC_100001"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"Dihydrolipoamide Dehydrogenase Deficiency (DLD deficiency)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-18 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"47"	"2020-10-13"
"GENCC_000108-HGNC_2928-MONDO_0016899-HP_0001417-GENCC_100001"	"HGNC:2928"	"DMD"	"MONDO:0016899"	"Duchenne and Becker muscular dystrophy"	"MONDO:0016899"	"Duchenne and Becker muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2928"	"DMD"	"MONDO:0016899"	"Duchenne and Becker muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"48"	"2020-10-13"
"GENCC_000108-HGNC_3097-MONDO_0016145-HP_0000007-GENCC_100001"	"HGNC:3097"	"DYSF"	"MONDO:0016145"	"qualitative or quantitative defects of dysferlin"	"MONDO:0016145"	"qualitative or quantitative defects of dysferlin"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3097"	"DYSF"	"MONDO:0016145"	"Dysferlinopathy, LGMD2B, Miyoshi myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"49"	"2020-10-13"
"GENCC_000108-HGNC_3261-MONDO_0011380-HP_0000007-GENCC_100001"	"HGNC:3261"	"EIF2B5"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3261"	"EIF2B5"	"MONDO:0011380"	"Leukoencephalopathy with vanishing white matter"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-22 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"50"	"2020-10-13"
"GENCC_000108-HGNC_5959-MONDO_0021809-HP_0000007-GENCC_100001"	"HGNC:5959"	"ELP1"	"MONDO:0021809"	"primary dysautonomia"	"MONDO:0021809"	"primary dysautonomia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5959"	"ELP1"	"MONDO:0021809"	"Familial Dysautonomia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-24 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"51"	"2020-10-13"
"GENCC_000108-HGNC_3438-MONDO_0019570-HP_0000007-GENCC_100001"	"HGNC:3438"	"ERCC6"	"MONDO:0019570"	"Cockayne syndrome type 2"	"MONDO:0019570"	"Cockayne syndrome type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3438"	"ERCC6"	"MONDO:0019570"	"Cockayne syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"52"	"2020-10-13"
"GENCC_000108-HGNC_3439-MONDO_0019569-HP_0000007-GENCC_100001"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"MONDO:0019569"	"Cockayne syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-20 20:05:06"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"53"	"2020-10-13"
"GENCC_000108-HGNC_3497-MONDO_0009162-HP_0000007-GENCC_100001"	"HGNC:3497"	"EVC"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3497"	"EVC"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-15 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"54"	"2020-10-13"
"GENCC_000108-HGNC_19747-MONDO_0009162-HP_0000007-GENCC_100001"	"HGNC:19747"	"EVC2"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:19747"	"EVC2"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-15 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"55"	"2020-10-13"
"GENCC_000108-HGNC_3579-MONDO_0010161-HP_0000007-GENCC_100001"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"tyrosinemia type I"	"MONDO:0010161"	"tyrosinemia type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"Tyrosinemia type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-02-06 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"56"	"2020-10-13"
"GENCC_000108-HGNC_3582-MONDO_0009215-HP_0000007-GENCC_100001"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-06 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"57"	"2020-10-13"
"GENCC_000108-HGNC_3584-MONDO_0009213-HP_0000007-GENCC_100001"	"HGNC:3584"	"FANCC"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3584"	"FANCC"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"58"	"2020-10-13"
"GENCC_000108-HGNC_17997-MONDO_0011688-HP_0000007-GENCC_100001"	"HGNC:17997"	"FKRP"	"MONDO:0011688"	"muscular dystrophy-dystroglycanopathy type B5"	"MONDO:0011688"	"muscular dystrophy-dystroglycanopathy type B5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:17997"	"FKRP"	"MONDO:0011688"	"Muscular dystrophy-dystroglycanopathy type B5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"59"	"2020-10-13"
"GENCC_000108-HGNC_3775-MONDO_0010383-HP_0001417-GENCC_100001"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"fragile X syndrome"	"MONDO:0010383"	"fragile X syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"Fragile X"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:07"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"61"	"2020-10-13"
"GENCC_000108-HGNC_4056-MONDO_0009287-HP_0000007-GENCC_100001"	"HGNC:4056"	"G6PC1"	"MONDO:0009287"	"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"MONDO:0009287"	"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4056"	"G6PC"	"MONDO:0009287"	"Glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-17 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"62"	"2020-10-13"
"GENCC_000108-HGNC_4115-MONDO_0009499-HP_0000007-GENCC_100001"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"MONDO:0009499"	"Krabbe disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-10 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"63"	"2020-10-13"
"GENCC_000108-HGNC_4118-MONDO_0009255-HP_0000007-GENCC_100001"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"galactokinase deficiency"	"MONDO:0009255"	"galactokinase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"Galactokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"64"	"2020-10-13"
"GENCC_000108-HGNC_4135-MONDO_0018116-HP_0000007-GENCC_100001"	"HGNC:4135"	"GALT"	"MONDO:0018116"	"galactosemia"	"MONDO:0018116"	"galactosemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4135"	"GALT"	"MONDO:0018116"	"Galactosemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-17 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"65"	"2020-10-13"
"GENCC_000108-HGNC_4177-MONDO_0018150-HP_0000007-GENCC_100001"	"HGNC:4177"	"GBA1"	"MONDO:0018150"	"Gaucher disease"	"MONDO:0018150"	"Gaucher disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4177"	"GBA"	"MONDO:0018150"	"Gaucher disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"66"	"2020-10-13"
"GENCC_000108-HGNC_4189-MONDO_0009281-HP_0000007-GENCC_100001"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"Glutaryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"67"	"2020-10-13"
"GENCC_000108-HGNC_4298-MONDO_0018149-HP_0000007-GENCC_100001"	"HGNC:4298"	"GLB1"	"MONDO:0018149"	"GM1 gangliosidosis"	"MONDO:0018149"	"GM1 gangliosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4298"	"GLB1"	"MONDO:0018149"	"GM1 gangliosidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"68"	"2020-10-13"
"GENCC_000108-HGNC_4313-MONDO_0011612-HP_0000007-GENCC_100001"	"HGNC:4313"	"GLDC"	"MONDO:0011612"	"glycine encephalopathy"	"MONDO:0011612"	"glycine encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4313"	"GLDC"	"MONDO:0011612"	"Glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"69"	"2020-10-13"
"GENCC_000108-HGNC_23657-MONDO_0011603-HP_0000007-GENCC_100001"	"HGNC:23657"	"GNE"	"MONDO:0011603"	"GNE myopathy"	"MONDO:0011603"	"GNE myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:23657"	"GNE"	"MONDO:0011603"	"GNE myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"70"	"2020-10-13"
"GENCC_000108-HGNC_29670-MONDO_0019248-HP_0000007-GENCC_100001"	"HGNC:29670"	"GNPTAB"	"MONDO:0019248"	"mucolipidosis"	"MONDO:0019248"	"mucolipidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:29670"	"GNPTAB"	"MONDO:0019248"	"Mucolipidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-27 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"71"	"2020-10-13"
"GENCC_000108-HGNC_23026-MONDO_0009652-HP_0000007-GENCC_100001"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"Mucolipidosis type III gamma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"72"	"2020-10-13"
"GENCC_000108-HGNC_4570-MONDO_0009824-HP_0000007-GENCC_100001"	"HGNC:4570"	"GRHPR"	"MONDO:0009824"	"primary hyperoxaluria type 2"	"MONDO:0009824"	"primary hyperoxaluria type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4570"	"GRHPR"	"MONDO:0009824"	"Primary hyperoxaluria type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:08"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"73"	"2020-10-13"
"GENCC_000108-HGNC_4827-MONDO_0019402-HP_0000007-GENCC_100001"	"HGNC:4827"	"HBB"	"MONDO:0019402"	"beta thalassemia"	"MONDO:0019402"	"beta thalassemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4827"	"HBB"	"MONDO:0019402"	"Beta thalassemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-25 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"75"	"2020-10-13"
"GENCC_000108-HGNC_4878-MONDO_0010100-HP_0000007-GENCC_100001"	"HGNC:4878"	"HEXA"	"MONDO:0010100"	"Tay-Sachs disease"	"MONDO:0010100"	"Tay-Sachs disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4878"	"HEXA"	"MONDO:0010100"	"Tay-Sachs disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-08 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"76"	"2020-10-13"
"GENCC_000108-HGNC_4879-MONDO_0010006-HP_0000007-GENCC_100001"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"MONDO:0010006"	"Sandhoff disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"77"	"2020-10-13"
"GENCC_000108-HGNC_26527-MONDO_0018937-HP_0000007-GENCC_100001"	"HGNC:26527"	"HGSNAT"	"MONDO:0018937"	"mucopolysaccharidosis type 3"	"MONDO:0018937"	"mucopolysaccharidosis type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:26527"	"HGSNAT"	"MONDO:0018937"	"Mucopolysaccharidosis type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-23 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"78"	"2020-10-13"
"GENCC_000108-HGNC_4976-MONDO_0009666-HP_0000007-GENCC_100001"	"HGNC:4976"	"HLCS"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4976"	"HLCS"	"MONDO:0009666"	"Holocarboxylase synthetase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"79"	"2020-10-13"
"GENCC_000108-HGNC_5005-MONDO_0009520-HP_0000007-GENCC_100001"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"80"	"2020-10-13"
"GENCC_000108-HGNC_25155-MONDO_0013327-HP_0000007-GENCC_100001"	"HGNC:25155"	"HOGA1"	"MONDO:0013327"	"primary hyperoxaluria type 3"	"MONDO:0013327"	"primary hyperoxaluria type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:25155"	"HOGA1"	"MONDO:0013327"	"Primary hyperoxaluria type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-11 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"81"	"2020-10-13"
"GENCC_000108-HGNC_5213-MONDO_0009855-HP_0000007-GENCC_100001"	"HGNC:5213"	"HSD17B4"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5213"	"HSD17B4"	"MONDO:0009855"	"D-bifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"82"	"2020-10-13"
"GENCC_000108-HGNC_5389-MONDO_0010674-HP_0001417-GENCC_100001"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"Mucopolysaccharidosis type 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-24 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"83"	"2020-10-13"
"GENCC_000108-HGNC_5391-MONDO_0001586-HP_0000007-GENCC_100001"	"HGNC:5391"	"IDUA"	"MONDO:0001586"	"mucopolysaccharidosis type 1"	"MONDO:0001586"	"mucopolysaccharidosis type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:5391"	"IDUA"	"MONDO:0001586"	"Mucopolysaccharidosis type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-08 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"84"	"2020-10-13"
"GENCC_000108-HGNC_6010-MONDO_0010315-HP_0001417-GENCC_100001"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"85"	"2020-10-13"
"GENCC_000108-HGNC_6186-MONDO_0009475-HP_0000007-GENCC_100001"	"HGNC:6186"	"IVD"	"MONDO:0009475"	"isovaleric acidemia"	"MONDO:0009475"	"isovaleric acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6186"	"IVD"	"MONDO:0009475"	"Isovaleric acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-15 20:05:09"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"86"	"2020-10-13"
"GENCC_000108-HGNC_6257-MONDO_0011153-HP_0000007-GENCC_100001"	"HGNC:6257"	"KCNJ11"	"MONDO:0011153"	"hyperinsulinemic hypoglycemia, familial, 2"	"MONDO:0011153"	"hyperinsulinemic hypoglycemia, familial, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6257"	"KCNJ11"	"MONDO:0011153"	"Hyperinsulinemic hypoglycemia, familial, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"87"	"2020-10-13"
"GENCC_000108-HGNC_6482-MONDO_0011925-HP_0000007-GENCC_100001"	"HGNC:6482"	"LAMA2"	"MONDO:0011925"	"congenital merosin-deficient muscular dystrophy 1A"	"MONDO:0011925"	"congenital merosin-deficient muscular dystrophy 1A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6482"	"LAMA2"	"MONDO:0011925"	"Muscular dystrophy, congenital merosin-deficient"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"88"	"2020-10-13"
"GENCC_000108-HGNC_6483-MONDO_0017612-HP_0000007-GENCC_100001"	"HGNC:6483"	"LAMA3"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6483"	"LAMA3"	"MONDO:0017612"	"Junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-15 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"89"	"2020-10-13"
"GENCC_000108-HGNC_6490-MONDO_0017612-HP_0000007-GENCC_100001"	"HGNC:6490"	"LAMB3"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6490"	"LAMB3"	"MONDO:0017612"	"Junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"90"	"2020-10-13"
"GENCC_000108-HGNC_6493-MONDO_0017612-HP_0000007-GENCC_100001"	"HGNC:6493"	"LAMC2"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"MONDO:0017612"	"junctional epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6493"	"LAMC2"	"MONDO:0017612"	"Junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"91"	"2020-10-13"
"GENCC_000108-HGNC_6617-MONDO_0010204-HP_0000007-GENCC_100001"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"Lysosomal acid lipase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"92"	"2020-10-13"
"GENCC_000108-HGNC_15714-MONDO_0009068-HP_0000007-GENCC_100001"	"HGNC:15714"	"LRPPRC"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:15714"	"LRPPRC"	"MONDO:0009068"	"Leigh syndrome: French-Canadian (LSFC)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-28 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"93"	"2020-10-13"
"GENCC_000108-HGNC_6826-MONDO_0009561-HP_0000007-GENCC_100001"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"alpha-mannosidosis"	"MONDO:0009561"	"alpha-mannosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"Alpha-mannosidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"94"	"2020-10-13"
"GENCC_000108-HGNC_13356-MONDO_0009653-HP_0000007-GENCC_100001"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"mucolipidosis type IV"	"MONDO:0009653"	"mucolipidosis type IV"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"Mucolipidosis type IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-18 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"95"	"2020-10-13"
"GENCC_000108-HGNC_6998-MONDO_0018088-HP_0000007-GENCC_100001"	"HGNC:6998"	"MEFV"	"MONDO:0018088"	"familial Mediterranean fever"	"MONDO:0018088"	"familial Mediterranean fever"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:6998"	"MEFV"	"MONDO:0018088"	"Familial Mediterranean fever"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-10-06 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"96"	"2020-10-13"
"GENCC_000108-HGNC_7121-MONDO_0009571-HP_0000007-GENCC_100001"	"HGNC:7121"	"MKS1"	"MONDO:0009571"	"Meckel syndrome, type 1"	"MONDO:0009571"	"Meckel syndrome, type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7121"	"MKS1"	"MONDO:0009571"	"Meckel syndrome, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"97"	"2020-10-13"
"GENCC_000108-HGNC_17082-MONDO_0024555-HP_0000007-GENCC_100001"	"HGNC:17082"	"MLC1"	"MONDO:0024555"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"MONDO:0024555"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:17082"	"MLC1"	"MONDO:0024555"	"Megalencephalic leukoencephalopathy with subcortical cysts 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-17 20:05:10"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"98"	"2020-10-13"
"GENCC_000108-HGNC_18871-MONDO_0009613-HP_0000007-GENCC_100001"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"Vitamin B12-responsive methylmalonic acidemia type cblA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-14 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"99"	"2020-10-13"
"GENCC_000108-HGNC_19331-MONDO_0009614-HP_0000007-GENCC_100001"	"HGNC:19331"	"MMAB"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:19331"	"MMAB"	"MONDO:0009614"	"Vitamin B12-responsive methylmalonic acidemia type cblB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"100"	"2020-10-13"
"GENCC_000108-HGNC_24525-MONDO_0010184-HP_0000007-GENCC_100001"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"Methylmalonic aciduria and homocystinuria type cblC"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-15 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"101"	"2020-10-13"
"GENCC_000108-HGNC_7216-MONDO_0011257-HP_0000007-GENCC_100001"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-15 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"102"	"2020-10-13"
"GENCC_000108-HGNC_7448-MONDO_0010683-HP_0001417-GENCC_100001"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked myotubular myopathy"	"MONDO:0010683"	"X-linked myotubular myopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked centronuclear myopathy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"103"	"2020-10-13"
"GENCC_000108-HGNC_7632-MONDO_0009656-HP_0000007-GENCC_100001"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"Sanfilippo syndrome type B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-10 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"105"	"2020-10-13"
"GENCC_000108-HGNC_7652-MONDO_0009623-HP_0000007-GENCC_100001"	"HGNC:7652"	"NBN"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7652"	"NBN"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-25 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"106"	"2020-10-13"
"GENCC_000108-HGNC_7720-MONDO_0009725-HP_0000007-GENCC_100001"	"HGNC:7720"	"NEB"	"MONDO:0009725"	"nemaline myopathy 2"	"MONDO:0009725"	"nemaline myopathy 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7720"	"NEB"	"MONDO:0009725"	"Nemaline myopathy 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-15 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"107"	"2020-10-13"
"GENCC_000108-HGNC_7897-MONDO_0009757-HP_0000007-GENCC_100001"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-03 20:05:11"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"108"	"2020-10-13"
"GENCC_000108-HGNC_14537-MONDO_0011873-HP_0000007-GENCC_100001"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"109"	"2020-10-13"
"GENCC_000108-HGNC_7908-MONDO_0009732-HP_0000007-GENCC_100001"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"Congenital nephrotic syndrome, Finnish type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-11 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"110"	"2020-10-13"
"GENCC_000108-HGNC_13394-MONDO_0010974-HP_0000007-GENCC_100001"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"Nephrotic syndrome, type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"111"	"2020-10-13"
"GENCC_000108-HGNC_7960-MONDO_0010264-HP_0001417-GENCC_100001"	"HGNC:7960"	"NR0B1"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:7960"	"NR0B1"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"112"	"2020-10-13"
"GENCC_000108-HGNC_8142-MONDO_0009787-HP_0000007-GENCC_100001"	"HGNC:8142"	"OPA3"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8142"	"OPA3"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"113"	"2020-10-13"
"GENCC_000108-HGNC_8582-MONDO_0009861-HP_0000007-GENCC_100001"	"HGNC:8582"	"PAH"	"MONDO:0009861"	"phenylketonuria"	"MONDO:0009861"	"phenylketonuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8582"	"PAH"	"MONDO:0009861"	"Phenylketonuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"114"	"2020-10-13"
"GENCC_000108-HGNC_8636-MONDO_0009949-HP_0000007-GENCC_100001"	"HGNC:8636"	"PC"	"MONDO:0009949"	"pyruvate carboxylase deficiency disease"	"MONDO:0009949"	"pyruvate carboxylase deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8636"	"PC"	"MONDO:0009949"	"Pyruvate carboxylase deficiency disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"115"	"2020-10-13"
"GENCC_000108-HGNC_8653-MONDO_0011628-HP_0000007-GENCC_100001"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"propionic acidemia"	"MONDO:0011628"	"propionic acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"Propionic acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-15 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"116"	"2020-10-13"
"GENCC_000108-HGNC_8654-MONDO_0011628-HP_0000007-GENCC_100001"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"propionic acidemia"	"MONDO:0011628"	"propionic acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"PCCB-related propionic acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"117"	"2020-10-13"
"GENCC_000108-HGNC_8850-MONDO_0008953-HP_0000007-GENCC_100001"	"HGNC:8850"	"PEX1"	"MONDO:0008953"	"peroxisome biogenesis disorder 1A (Zellweger)"	"MONDO:0008953"	"peroxisome biogenesis disorder 1A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8850"	"PEX1"	"MONDO:0008953"	"Peroxisome biogenesis disorder 1A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"118"	"2020-10-13"
"GENCC_000108-HGNC_8851-MONDO_0013936-HP_0000007-GENCC_100001"	"HGNC:8851"	"PEX10"	"MONDO:0013936"	"peroxisome biogenesis disorder 6A (Zellweger)"	"MONDO:0013936"	"peroxisome biogenesis disorder 6A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8851"	"PEX10"	"MONDO:0013936"	"Peroxisome biogenesis disorder 6A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"119"	"2020-10-13"
"GENCC_000108-HGNC_8854-MONDO_0013927-HP_0000007-GENCC_100001"	"HGNC:8854"	"PEX12"	"MONDO:0013927"	"peroxisome biogenesis disorder 3A (Zellweger)"	"MONDO:0013927"	"peroxisome biogenesis disorder 3A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8854"	"PEX12"	"MONDO:0013927"	"Peroxisome biogenesis disorder 3A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-01 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"120"	"2020-10-13"
"GENCC_000108-HGNC_9717-MONDO_0013932-HP_0000007-GENCC_100001"	"HGNC:9717"	"PEX2"	"MONDO:0013932"	"peroxisome biogenesis disorder 5A (Zellweger)"	"MONDO:0013932"	"peroxisome biogenesis disorder 5A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9717"	"PEX2"	"MONDO:0013932"	"Peroxisome biogenesis disorder 5A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-15 20:05:12"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"121"	"2020-10-13"
"GENCC_000108-HGNC_8859-MONDO_0013930-HP_0000007-GENCC_100001"	"HGNC:8859"	"PEX6"	"MONDO:0013930"	"peroxisome biogenesis disorder 4A (Zellweger)"	"MONDO:0013930"	"peroxisome biogenesis disorder 4A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8859"	"PEX6"	"MONDO:0013930"	"Peroxisome biogenesis disorder 4A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-05 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"122"	"2020-10-13"
"GENCC_000108-HGNC_8860-MONDO_0008972-HP_0000007-GENCC_100001"	"HGNC:8860"	"PEX7"	"MONDO:0008972"	"rhizomelic chondrodysplasia punctata type 1"	"MONDO:0008972"	"rhizomelic chondrodysplasia punctata type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:8860"	"PEX7"	"MONDO:0008972"	"Rhizomelic chondrodysplasia punctata type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"123"	"2020-10-13"
"GENCC_000108-HGNC_9016-MONDO_0009889-HP_0000007-GENCC_100001"	"HGNC:9016"	"PKHD1"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9016"	"PKHD1"	"MONDO:0009889"	"Autosomal recessive polycystic kidney disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"124"	"2020-10-13"
"GENCC_000108-HGNC_9115-MONDO_0005500-HP_0000007-GENCC_100001"	"HGNC:9115"	"PMM2"	"MONDO:0005500"	"congenital disorder of glycosylation type I"	"MONDO:0005500"	"congenital disorder of glycosylation type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9115"	"PMM2"	"MONDO:0005500"	"Congenital disorder of glycosylation, type Ia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-14 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"125"	"2020-10-13"
"GENCC_000108-HGNC_19139-MONDO_0018939-HP_0000007-GENCC_100001"	"HGNC:19139"	"POMGNT1"	"MONDO:0018939"	"muscle-eye-brain disease"	"MONDO:0018939"	"muscle-eye-brain disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:19139"	"POMGNT1"	"MONDO:0018939"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-19 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"126"	"2020-10-13"
"GENCC_000108-HGNC_9325-MONDO_0009744-HP_0000007-GENCC_100001"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"Neuronal ceroid lipofuscinosis 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"127"	"2020-10-13"
"GENCC_000108-HGNC_9455-MONDO_0009878-HP_0000007-GENCC_100001"	"HGNC:9455"	"PROP1"	"MONDO:0009878"	"pituitary hormone deficiency, combined, 2"	"MONDO:0009878"	"pituitary hormone deficiency, combined, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:9455"	"PROP1"	"MONDO:0009878"	"Pituitary hormone deficiency, combined, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-01-24 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"128"	"2020-10-13"
"GENCC_000108-HGNC_10031-MONDO_0009595-HP_0000007-GENCC_100001"	"HGNC:10031"	"RMRP"	"MONDO:0009595"	"cartilage-hair hypoplasia"	"MONDO:0009595"	"cartilage-hair hypoplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10031"	"RMRP"	"MONDO:0009595"	"Cartilage-hair hypoplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-09 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"129"	"2020-10-13"
"GENCC_000108-HGNC_10457-MONDO_0010725-HP_0001417-GENCC_100001"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked retinoschisis"	"MONDO:0010725"	"X-linked retinoschisis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked juvenile retinoschisis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-24 20:05:13"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"130"	"2020-10-13"
"GENCC_000108-HGNC_10519-MONDO_0010041-HP_0000007-GENCC_100001"	"HGNC:10519"	"SACS"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10519"	"SACS"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"132"	"2020-10-13"
"GENCC_000108-HGNC_10805-MONDO_0011968-HP_0000007-GENCC_100001"	"HGNC:10805"	"SGCA"	"MONDO:0011968"	"autosomal recessive limb-girdle muscular dystrophy type 2D"	"MONDO:0011968"	"autosomal recessive limb-girdle muscular dystrophy type 2D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10805"	"SGCA"	"MONDO:0011968"	"Autosomal recessive limb-girdle muscular dystrophy type 2D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-27 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"133"	"2020-10-13"
"GENCC_000108-HGNC_10806-MONDO_0011423-HP_0000007-GENCC_100001"	"HGNC:10806"	"SGCB"	"MONDO:0011423"	"autosomal recessive limb-girdle muscular dystrophy type 2E"	"MONDO:0011423"	"autosomal recessive limb-girdle muscular dystrophy type 2E"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10806"	"SGCB"	"MONDO:0011423"	"Autosomal recessive limb-girdle muscular dystrophy type 2E"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-24 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"134"	"2020-10-13"
"GENCC_000108-HGNC_10807-MONDO_0011028-HP_0000007-GENCC_100001"	"HGNC:10807"	"SGCD"	"MONDO:0011028"	"autosomal recessive limb-girdle muscular dystrophy type 2F"	"MONDO:0011028"	"autosomal recessive limb-girdle muscular dystrophy type 2F"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10807"	"SGCD"	"MONDO:0011028"	"Autosomal recessive limb-girdle muscular dystrophy type 2F"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"135"	"2020-10-13"
"GENCC_000108-HGNC_10809-MONDO_0009677-HP_0000007-GENCC_100001"	"HGNC:10809"	"SGCG"	"MONDO:0009677"	"autosomal recessive limb-girdle muscular dystrophy type 2C"	"MONDO:0009677"	"autosomal recessive limb-girdle muscular dystrophy type 2C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10809"	"SGCG"	"MONDO:0009677"	"Autosomal recessive limb-girdle muscular dystrophy type 2C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"136"	"2020-10-13"
"GENCC_000108-HGNC_10818-MONDO_0009655-HP_0000007-GENCC_100001"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"Sanfilippo syndrome type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-12-28 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"137"	"2020-10-13"
"GENCC_000108-HGNC_10933-MONDO_0011449-HP_0000007-GENCC_100001"	"HGNC:10933"	"SLC17A5"	"MONDO:0011449"	"Salla disease"	"MONDO:0011449"	"Salla disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10933"	"SLC17A5"	"MONDO:0011449"	"Salla disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"139"	"2020-10-13"
"GENCC_000108-HGNC_10969-MONDO_0008919-HP_0000007-GENCC_100001"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"Systemic primary carnitine deficiency disease  "	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:14"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"140"	"2020-10-13"
"GENCC_000108-HGNC_4061-MONDO_0023258-HP_0000007-GENCC_100001"	"HGNC:4061"	"SLC37A4"	"MONDO:0023258"	"glycogen storage disease type 1 due to SLC37A4 mutation"	"MONDO:0023258"	"glycogen storage disease type 1 due to SLC37A4 mutation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:4061"	"SLC37A4"	"MONDO:0023258"	"Glycogen storage disease type 1 due to SLC37A4 mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-12 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"142"	"2020-10-13"
"GENCC_000108-HGNC_11117-MONDO_0001516-HP_0000007-GENCC_100001"	"HGNC:11117"	"SMN1"	"MONDO:0001516"	"spinal muscular atrophy"	"MONDO:0001516"	"spinal muscular atrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11117"	"SMN1"	"MONDO:0001516"	"Spinal muscular atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"143"	"2020-10-13"
"GENCC_000108-HGNC_11120-MONDO_0001982-HP_0000007-GENCC_100001"	"HGNC:11120"	"SMPD1"	"MONDO:0001982"	"Niemann-Pick disease"	"MONDO:0001982"	"Niemann-Pick disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11120"	"SMPD1"	"MONDO:0001982"	"Niemann-Pick disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-26 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"144"	"2020-10-13"
"GENCC_000108-HGNC_11359-MONDO_0008725-HP_0000007-GENCC_100001"	"HGNC:11359"	"STAR"	"MONDO:0008725"	"congenital lipoid adrenal hyperplasia due to STAR deficency"	"MONDO:0008725"	"congenital lipoid adrenal hyperplasia due to STAR deficency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11359"	"STAR"	"MONDO:0008725"	"Congenital lipoid adrenal hyperplasia due to STAR deficency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-16 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"145"	"2020-10-13"
"GENCC_000108-HGNC_11573-MONDO_0010160-HP_0000007-GENCC_100001"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"tyrosinemia type II"	"MONDO:0010160"	"tyrosinemia type II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"Tyrosinemia type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-22 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"146"	"2020-10-13"
"GENCC_000108-HGNC_11647-MONDO_0019026-HP_0000007-GENCC_100001"	"HGNC:11647"	"TCIRG1"	"MONDO:0019026"	"autosomal recessive osteopetrosis"	"MONDO:0019026"	"autosomal recessive osteopetrosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11647"	"TCIRG1"	"MONDO:0019026"	"Autosomal recessive osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-06 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"147"	"2020-10-13"
"GENCC_000108-HGNC_11777-MONDO_0009441-HP_0000007-GENCC_100001"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"Autosomal recessive congenital ichthyosis 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-11-20 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"148"	"2020-10-13"
"GENCC_000108-HGNC_11782-MONDO_0100064-HP_0000007-GENCC_100001"	"HGNC:11782"	"TH"	"MONDO:0100064"	"tyrosine hydroxylase deficiency"	"MONDO:0100064"	"tyrosine hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:11782"	"TH"	"MONDO:0100064"	"Tyrosine hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-23 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"149"	"2020-10-13"
"GENCC_000108-HGNC_2073-MONDO_0008769-HP_0000007-GENCC_100001"	"HGNC:2073"	"TPP1"	"MONDO:0008769"	"neuronal ceroid lipofuscinosis 2"	"MONDO:0008769"	"neuronal ceroid lipofuscinosis 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2073"	"TPP1"	"MONDO:0008769"	"Neuronal ceroid lipofuscinosis 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-06 20:05:15"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"150"	"2020-10-13"
"GENCC_000108-HGNC_25751-MONDO_0014144-HP_0000007-GENCC_100001"	"HGNC:25751"	"TRAPPC11"	"MONDO:0014144"	"autosomal recessive limb-girdle muscular dystrophy type R18"	"MONDO:0014144"	"autosomal recessive limb-girdle muscular dystrophy type R18"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:25751"	"TRAPPC11"	"MONDO:0014144"	"Autosomal recessive limb-girdle muscular dystrophy type 2S"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2019-02-01 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"151"	"2020-10-13"
"GENCC_000108-HGNC_12404-MONDO_0010188-HP_0000007-GENCC_100001"	"HGNC:12404"	"TTPA"	"MONDO:0010188"	"familial isolated deficiency of vitamin E"	"MONDO:0010188"	"familial isolated deficiency of vitamin E"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:12404"	"TTPA"	"MONDO:0010188"	"Familial isolated deficiency of vitamin E"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-17 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"152"	"2020-10-13"
"GENCC_000108-HGNC_2183-MONDO_0008999-HP_0000007-GENCC_100001"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"MONDO:0008999"	"Cohen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-06-04 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"153"	"2020-10-13"
"GENCC_000108-HGNC_12814-MONDO_0010210-HP_0000007-GENCC_100001"	"HGNC:12814"	"XPA"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:12814"	"XPA"	"MONDO:0010210"	"Xeroderma pigmentosum group A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-20 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"154"	"2020-10-13"
"GENCC_000108-HGNC_12816-MONDO_0010211-HP_0000007-GENCC_100001"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"Xeroderma pigmentosum group C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-08-21 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"155"	"2020-10-13"
"GENCC_000108-HGNC_20761-MONDO_0010044-HP_0000007-GENCC_100001"	"HGNC:20761"	"ZFYVE26"	"MONDO:0010044"	"hereditary spastic paraplegia 15"	"MONDO:0010044"	"hereditary spastic paraplegia 15"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000108"	"Myriad Women’s Health"	"HGNC:20761"	"ZFYVE26"	"MONDO:0010044"	"Hereditary spastic paraplegia 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000108"	"Myriad Women's Health"	"GENCC:100001"	"Definitive"	"2018-07-19 20:05:16"	"https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24033"	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-sop-version-5/"	"156"	"2020-10-13"
"GENCC_000111-HGNC_1097-OMIM_613706-HP_0000006-GENCC_100001"	"HGNC:1097"	"BRAF"	"MONDO:0013379"	"Noonan syndrome 7"	"OMIM:613706"	"Noonan syndrome 7"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1097"	"BRAF"	"OMIM:613706"	"Noonan syndrome 7, MIM# 613706;"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/BRAF"	""	"19206169, 18042262"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.1097.1"	"2020-11-09"
"GENCC_000111-HGNC_1097-OMIM_115150-HP_0000006-GENCC_100001"	"HGNC:1097"	"BRAF"	"MONDO:0007265"	"cardiofaciocutaneous syndrome 1"	"OMIM:115150"	"Cardiofaciocutaneous syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1097"	"BRAF"	"OMIM:115150"	"Cardiofaciocutaneous syndrome, MIM# 115150"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/BRAF"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.1097.2"	"2020-11-09"
"GENCC_000111-HGNC_1541-OMIM_613563-HP_0000006-GENCC_100001"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1541"	"CBL"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/CBL"	""	"25358541, 20619386, 20543203, 20694012"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.1541"	"2020-11-09"
"GENCC_000111-HGNC_5173-OMIM_218040-HP_0000006-GENCC_100001"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"OMIM:218040"	"Costello syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5173"	"HRAS"	"OMIM:218040"	"Costello syndrome, MIM# 218040"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/HRAS"	""	"16329078, 16372351, 16443854"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.5173"	"2020-11-09"
"GENCC_000111-HGNC_6407-OMIM_609942-HP_0000006-GENCC_100001"	"HGNC:6407"	"KRAS"	"MONDO:0012371"	"Noonan syndrome 3"	"OMIM:609942"	"Noonan syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6407"	"KRAS"	"OMIM:609942"	"Noonan syndrome 3, MIM# 609942;"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/KRAS"	""	"16474404, 16474405, 16773572, 17056636, 21797849"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6407.1"	"2020-11-09"
"GENCC_000111-HGNC_6407-OMIM_615278-HP_0000006-GENCC_100001"	"HGNC:6407"	"KRAS"	"MONDO:0014112"	"cardiofaciocutaneous syndrome 2"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6407"	"KRAS"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2, MIM# 615278"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/KRAS"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6407.2"	"2020-11-09"
"GENCC_000111-HGNC_6742-OMIM_616564-HP_0000006-GENCC_100001"	"HGNC:6742"	"LZTR1"	"MONDO:0014693"	"Noonan syndrome 10"	"OMIM:616564"	"Noonan syndrome 10"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6742"	"LZTR1"	"OMIM:616564"	"Noonan syndrome 10;"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/LZTR1"	""	"25795793, 29469822, 30368668, 30481304, 24362817"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6742.1"	"2020-11-09"
"GENCC_000111-HGNC_6742-OMIM_605275-HP_0000007-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0011531"	"Noonan syndrome 2"	"OMIM:605275"	"Noonan syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6742"	"LZTR1"	"OMIM:605275"	"Noonan syndrome 2"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/LZTR1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6742.2"	"2020-11-09"
"GENCC_000111-HGNC_6840-OMIM_615279-HP_0000006-GENCC_100001"	"HGNC:6840"	"MAP2K1"	"MONDO:0014113"	"cardiofaciocutaneous syndrome 3"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6840"	"MAP2K1"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3, MIM# 615279"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/MAP2K1"	""	"16439621, 17551924, 18042262, 20301365"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6840"	"2020-11-09"
"GENCC_000111-HGNC_6842-OMIM_615280-HP_0000006-GENCC_100001"	"HGNC:6842"	"MAP2K2"	"MONDO:0014114"	"cardiofaciocutaneous syndrome 4"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6842"	"MAP2K2"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4, MIM# 615280"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/MAP2K2"	""	"20358587, 16439621, 18042262"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.6842"	"2020-11-09"
"GENCC_000111-HGNC_7227-OMIM_618499-HP_0000006-GENCC_100002"	"HGNC:7227"	"MRAS"	"MONDO:0032786"	"Noonan syndrome 11"	"OMIM:618499"	"Noonan syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7227"	"MRAS"	"OMIM:618499"	"Noonan syndrome"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/MRAS"	""	"28289718"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.7227"	"2020-11-09"
"GENCC_000111-HGNC_7765-OMIM_162200-HP_0000006-GENCC_100001"	"HGNC:7765"	"NF1"	"MONDO:0018975"	"neurofibromatosis type 1"	"OMIM:162200"	"Neurofibromatosis, type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7765"	"NF1"	"OMIM:162200"	"Neurofibromatosis, type 1, MIM# 162200;Neurofibromatosis-Noonan syndrome, MIM# 601321"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/NF1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.7765.1"	"2020-11-09"
"GENCC_000111-HGNC_7765-OMIM_601321-HP_0000006-GENCC_100001"	"HGNC:7765"	"NF1"	"MONDO:0011035"	"neurofibromatosis-Noonan syndrome"	"OMIM:601321"	"Neurofibromatosis-Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7765"	"NF1"	"OMIM:601321"	"Neurofibromatosis-Noonan syndrome, MIM# 601321"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/NF1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.7765.2"	"2020-11-09"
"GENCC_000111-HGNC_7989-OMIM_613224-HP_0000006-GENCC_100001"	"HGNC:7989"	"NRAS"	"MONDO:0013186"	"Noonan syndrome 6"	"OMIM:613224"	"Noonan syndrome 6"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7989"	"NRAS"	"OMIM:613224"	"Noonan syndrome 6, MIM# 613224"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/NRAS"	""	"19966803, 26467218, 28594414"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.7989"	"2020-11-09"
"GENCC_000111-HGNC_9282-OMIM_617506-HP_0000006-GENCC_100002"	"HGNC:9282"	"PPP1CB"	"MONDO:0054588"	"Noonan syndrome-like disorder with loose anagen hair 2"	"OMIM:617506"	"Noonan syndrome-like disorder with loose anagen hair 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9282"	"PPP1CB"	"OMIM:617506"	"Noonan syndrome-like disorder with loose anagen hair 2;OMIM # 617506"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/PPP1CB"	""	" 32476286, 28211982, 27264673, 27681385, 27868344"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.9282"	"2020-11-09"
"GENCC_000111-HGNC_9644-OMIM_151100-HP_0000006-GENCC_100001"	"HGNC:9644"	"PTPN11"	"MONDO:0100082"	"LEOPARD syndrome 1"	"OMIM:151100"	"LEOPARD syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9644"	"PTPN11"	"OMIM:151100"	"LEOPARD syndrome 1, 151100 AD (Noonan syndrome with multiple lentigines);"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/PTPN11"	""	"11992261, 21533187, 24935154"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.9644.1"	"2020-11-09"
"GENCC_000111-HGNC_9644-OMIM_163950-HP_0000006-GENCC_100001"	"HGNC:9644"	"PTPN11"	"MONDO:0008104"	"Noonan syndrome 1"	"OMIM:163950"	"Noonan syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9644"	"PTPN11"	"OMIM:163950"	"Noonan syndrome 1, 163950 AD"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/PTPN11"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.9644.2"	"2020-11-09"
"GENCC_000111-HGNC_9829-OMIM_611553-HP_0000006-GENCC_100001"	"HGNC:9829"	"RAF1"	"MONDO:0012690"	"Noonan syndrome 5"	"OMIM:611553"	"Noonan syndrome 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9829"	"RAF1"	"OMIM:611553"	"Noonan syndrome 5, MIM# 611553"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100001"	"Definitive"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/RAF1"	""	"17603483, 17603482, 31145547, 31030682, 29271604"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.9829"	"2020-11-09"
"GENCC_000111-HGNC_10023-OMIM_615355-HP_0000006-GENCC_100002"	"HGNC:10023"	"RIT1"	"MONDO:0014143"	"Noonan syndrome 8"	"OMIM:615355"	"Noonan syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10023"	"RIT1"	"OMIM:615355"	"Noonan syndrome 8, MIM# 615355"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/RIT1"	""	"23791108, 25124994, 24939608, 27101134"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.10023"	"2020-11-09"
"GENCC_000111-HGNC_17271-OMIM_618624-HP_0000006-GENCC_100002"	"HGNC:17271"	"RRAS2"	"MONDO:0032839"	"noonan syndrome 12"	"OMIM:618624"	"Noonan syndrome 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17271"	"RRAS2"	"OMIM:618624"	"Noonan syndrome 12 OMIM #618624"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/RRAS2"	""	"31130282"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.17271"	"2020-11-09"
"GENCC_000111-HGNC_15454-OMIM_607721-HP_0000006-GENCC_100002"	"HGNC:15454"	"SHOC2"	"MONDO:0054637"	"Noonan syndrome-like disorder with loose anagen hair 1"	"OMIM:607721"	"Noonan syndrome-like with loose anagen hair 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15454"	"SHOC2"	"OMIM:607721"	"Noonan syndrome-like with loose anagen hair 1, MIM# 607721"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/SHOC2"	""	"19684605, 23918763, 20882035"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.15454"	"2020-11-09"
"GENCC_000111-HGNC_11187-OMIM_610733-HP_0000006-GENCC_100002"	"HGNC:11187"	"SOS1"	"MONDO:0012547"	"Noonan syndrome 4"	"OMIM:610733"	"Noonan syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11187"	"SOS1"	"OMIM:610733"	"Noonan syndrome 4, MIM# 610733"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/SOS1"	""	"17143285, 17143282, 28884940, 17586837"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.11187"	"2020-11-09"
"GENCC_000111-HGNC_11188-OMIM_616559-HP_0000006-GENCC_100002"	"HGNC:11188"	"SOS2"	"MONDO:0014691"	"Noonan syndrome 9"	"OMIM:616559"	"Noonan syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11188"	"SOS2"	"OMIM:616559"	"Noonan syndrome 9, MIM# 616559"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/SOS2"	""	"25795793, 32788663, 26173643"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.11188"	"2020-11-09"
"GENCC_000111-HGNC_20249-OMIM_611431-HP_0000006-GENCC_100002"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"OMIM:611431"	"Legius syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20249"	"SPRED1"	"OMIM:611431"	"Legius syndrome, MIM# 611431"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/164/gene/SPRED1"	""	"17704776, 19366998, 21548021"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.164.20249"	"2020-11-09"
"GENCC_000111-HGNC_15868-OMIM_612674-HP_0000007-GENCC_100002"	"HGNC:15868"	"ABHD12"	"MONDO:0012984"	"PHARC syndrome"	"OMIM:612674"	"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15868"	"ABHD12"	"OMIM:612674"	"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ABHD12"	""	"20797687, 24697911"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.15868"	"2020-11-09"
"GENCC_000111-HGNC_119-OMIM_618960-HP_0000006-GENCC_100002"	"HGNC:119"	"ACOX1"	"MONDO:0030073"	"Mitchell syndrome"	"OMIM:618960"	"Mitchell syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:119"	"ACOX1"	"OMIM:618960"	"Mitchell syndrome, MIM# 618960"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ACOX1"	""	"32169171"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.119"	"2020-11-09"
"GENCC_000111-HGNC_132-OMIM_243310-HP_0000006-GENCC_100002"	"HGNC:132"	"ACTB"	"MONDO:0009470"	"Baraitser-Winter syndrome 1"	"OMIM:243310"	"Baraitser-Winter syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:132"	"ACTB"	"OMIM:243310"	"Baraitser-Winter syndrome 1 (MIM#243310)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:10"	"https://panelapp.agha.umccr.org/panels/15/"	""	"29671837, 22366783"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.132"	"2021-03-09"
"GENCC_000111-HGNC_132-OMIM_607371-HP_0000006-GENCC_100002"	"HGNC:132"	"ACTB"	"MONDO:0011823"	"developmental malformations-deafness-dystonia syndrome"	"OMIM:607371"	"Dystonia-deafness syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:132"	"ACTB"	"OMIM:607371"	"Deafness-dystonia syndrome"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ACTB"	""	"25052316, 29788902"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.132.2"	"2020-11-09"
"GENCC_000111-HGNC_144-OMIM_604717-HP_0000006-GENCC_100002"	"HGNC:144"	"ACTG1"	"MONDO:0011480"	"autosomal dominant nonsyndromic hearing loss 20"	"OMIM:604717"	"Deafness, autosomal dominant 20/26"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:144"	"ACTG1"	"OMIM:604717"	"Deafness, autosomal dominant 20/26, MIM# 604717"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ACTG1"	""	"13680526, 14684684, 16773128, 19477959, 19497859"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.144"	"2020-11-09"
"GENCC_000111-HGNC_17416-OMIM_605472-HP_0000007-GENCC_100002"	"HGNC:17416"	"ADGRV1"	"MONDO:0011558"	"Usher syndrome type 2C"	"OMIM:605472"	"Usher syndrome, type IIC, GPR98/PDZD7 digenic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17416"	"ADGRV1"	"OMIM:605472"	"Usher syndrome, type 2C, MIM# 605472"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ADGRV1"	""	"22147658, 25572244, 14740321"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.17416"	"2020-11-09"
"GENCC_000111-HGNC_8768-OMIM_300614-HP_0001417-GENCC_100002"	"HGNC:8768"	"AIFM1"	"MONDO:0010378"	"X-linked hereditary sensory and autonomic neuropathy with hearing loss"	"OMIM:300614"	"Deafness, X-linked 5"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8768"	"AIFM1"	"OMIM:300614"	"Deafness, X-linked 5, MIM# 300614"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/AIFM1"	""	"25986071"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8768"	"2020-11-09"
"GENCC_000111-HGNC_428-OMIM_203800-HP_0000007-GENCC_100002"	"HGNC:428"	"ALMS1"	"MONDO:0008763"	"Alstrom syndrome"	"OMIM:203800"	"Alstrom syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:428"	"ALMS1"	"OMIM:203800"	"Alstrom syndrome, MIM# 203800"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ALMS1"	""	"11941369, 17594715"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.428"	"2020-11-09"
"GENCC_000111-HGNC_554-OMIM_242150-HP_0000007-GENCC_100002"	"HGNC:554"	"AP1B1"	"MONDO:0009440"	"ichthyosiform erythroderma, corneal involvement, and hearing loss"	"OMIM:242150"	"Keratitis-ichthyosis-deafness syndrome, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:554"	"AP1B1"	"OMIM:242150"	"Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM#	242150"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/AP1B1"	""	"31630788, 31630791"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.554"	"2020-11-09"
"GENCC_000111-HGNC_815-OMIM_601386-HP_0000006-GENCC_100002"	"HGNC:815"	"ATP2B2"	"MONDO:0011067"	"autosomal recessive nonsyndromic hearing loss 12"	"OMIM:601386"	"Deafness, autosomal recessive 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:815"	"ATP2B2"	"OMIM:601386"	"Dominant progressive sensorineural deafness, MIM# 601386"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ATP2B2"	""	"30535804"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.815"	"2020-11-09"
"GENCC_000111-HGNC_853-OMIM_267300-HP_0000007-GENCC_100002"	"HGNC:853"	"ATP6V1B1"	"MONDO:0009968"	"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"	"OMIM:267300"	"Distal renal tubular acidosis 2 with progressive sensorineural hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:853"	"ATP6V1B1"	"OMIM:267300"	"Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ATP6V1B1"	""	"9916796, 12414817, 16611712, 18798332"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.853"	"2020-11-09"
"GENCC_000111-HGNC_16695-OMIM_300475-HP_0001417-GENCC_100002"	"HGNC:16695"	"BCAP31"	"MONDO:0010334"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"OMIM:300475"	"Deafness, dystonia, and cerebral hypomyelination"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16695"	"BCAP31"	"OMIM:300475"	"Deafness, dystonia, and cerebral hypomyelination, MIM# 300475"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BCAP31"	""	"24011989, 31330203, 28332767"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16695"	"2020-11-09"
"GENCC_000111-HGNC_1020-OMIM_262000-HP_0000007-GENCC_100002"	"HGNC:1020"	"BCS1L"	"MONDO:0009872"	"Bjornstad syndrome"	"OMIM:262000"	"Bjornstad syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1020"	"BCS1L"	"OMIM:262000"	"Bjornstad syndrome, MIM# 262000"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BCS1L"	""	"26563427, 24172246, 17314340"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1020.1"	"2020-11-09"
"GENCC_000111-HGNC_1020-OMIM_256000-HP_0000007-GENCC_100002"	"HGNC:1020"	"BCS1L"	"MONDO:0009723"	"Leigh syndrome"	"OMIM:256000"	"OMIM:256000"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1020"	"BCS1L"	"OMIM:256000"	"Leigh syndrome, MIM# 256000"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BCS1L"	""	"26563427, 24172246, 17314340"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1020.2"	"2020-11-09"
"GENCC_000111-HGNC_16512-OMIM_602522-HP_0000007-GENCC_100002"	"HGNC:16512"	"BSND"	"MONDO:0011242"	"Bartter disease type 4A"	"OMIM:602522"	"Bartter syndrome, type 4a"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16512"	"BSND"	"OMIM:602522"	"Sensorineural deafness with mild renal dysfunction, MIM# 602522;Bartter syndrome, type 4a, MIM# 602522"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BSND"	""	"19646679"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16512"	"2020-11-09"
"GENCC_000111-HGNC_1385-OMIM_614899-HP_0000007-GENCC_100002"	"HGNC:1385"	"CABP2"	"MONDO:0013963"	"autosomal recessive nonsyndromic hearing loss 93"	"OMIM:614899"	"Deafness, autosomal recessive 93"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1385"	"CABP2"	"OMIM:614899"	"Deafness, autosomal recessive 93, MIM# 614899"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CABP2"	""	"22981119, 31661684, 28183797"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1385"	"2020-11-09"
"GENCC_000111-HGNC_18111-OMIM_607453-HP_0000006-GENCC_100002"	"HGNC:18111"	"CCDC50"	"MONDO:0011832"	"autosomal dominant nonsyndromic hearing loss 44"	"OMIM:607453"	"?Deafness, autosomal dominant 44"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18111"	"CCDC50"	"OMIM:607453"	"Deafness, autosomal dominant 44, MIM# 607453"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CCDC50"	""	"17503326, 27911912, 24875298"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18111"	"2020-11-09"
"GENCC_000111-HGNC_1718-OMIM_608653-HP_0000007-GENCC_100002"	"HGNC:1718"	"CDC14A"	"MONDO:0012091"	"autosomal recessive nonsyndromic hearing loss 32"	"OMIM:608653"	"Deafness, autosomal recessive 32, with or without immotile sperm"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1718"	"CDC14A"	"OMIM:608653"	"Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CDC14A"	""	"29293958, 27259055"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1718"	"2020-11-09"
"GENCC_000111-HGNC_13733-OMIM_601067-HP_0000007-GENCC_100002"	"HGNC:13733"	"CDH23"	"MONDO:0010984"	"Usher syndrome type 1D"	"OMIM:601067"	"Usher syndrome, type 1D/F digenic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13733"	"CDH23"	"OMIM:601067"	"Usher syndrome, type 1D (MIM# 601067)"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CDH23"	""	"11138009, 25468891, 21940737"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13733.1"	"2020-11-09"
"GENCC_000111-HGNC_13733-OMIM_601386-HP_0000007-GENCC_100002"	"HGNC:13733"	"CDH23"	"MONDO:0011067"	"autosomal recessive nonsyndromic hearing loss 12"	"OMIM:601386"	"Deafness, autosomal recessive 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13733"	"CDH23"	"OMIM:601386"	"Deafness, autosomal recessive 12 (MIM # 601386)"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CDH23"	""	"11138009, 25468891, 21940737"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13733.2"	"2020-11-09"
"GENCC_000111-HGNC_31948-OMIM_614614-HP_0000006-GENCC_100003"	"HGNC:31948"	"CEACAM16"	"MONDO:0013823"	"autosomal dominant nonsyndromic hearing loss 4B"	"OMIM:614614"	"Deafness, autosomal dominant 4B"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:31948"	"CEACAM16"	"OMIM:614614"	"Deafness, autosomal dominant 4B, MIM# 614614"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CEACAM16"	""	"21368133, 22544735, 29703829, 25589040, 31249509, 30514912"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.31948.1"	"2020-11-09"
"GENCC_000111-HGNC_31948-OMIM_618410-HP_0000007-GENCC_100002"	"HGNC:31948"	"CEACAM16"	"MONDO:0032732"	"hearing loss, autosomal recessive 113"	"OMIM:618410"	"Deafness, autosomal recessive 113"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:31948"	"CEACAM16"	"OMIM:618410"	"Deafness, autosomal recessive 113, MIM# 618410"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CEACAM16"	""	"21368133, 22544735, 29703829, 25589040, 31249509, 30514912"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.31948.2"	"2020-11-09"
"GENCC_000111-HGNC_1859-OMIM_618358-HP_0000007-GENCC_100002"	"HGNC:1859"	"CEP250"	"MONDO:0020780"	"cone-rod dystrophy and hearing loss 2"	"OMIM:618358"	"Cone-rod dystrophy and hearing loss 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1859"	"CEP250"	"OMIM:618358"	"Cone-rod dystrophy and hearing loss 2, MIM# 618358"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CEP250"	""	"24780881, 29718797, 30459346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1859"	"2020-11-09"
"GENCC_000111-HGNC_25740-OMIM_617236-HP_0000007-GENCC_100002"	"HGNC:25740"	"CEP78"	"MONDO:0020778"	"cone-rod dystrophy and hearing loss 1"	"OMIM:617236"	"Cone-rod dystrophy and hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25740"	"CEP78"	"OMIM:617236"	"Cone-rod dystrophy and hearing loss, MIM#617236"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CEP78"	""	"28005958, 27588451, 27588452, 27627988"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.25740"	"2020-11-09"
"GENCC_000111-HGNC_20626-OMIM_214800-HP_0000006-GENCC_100002"	"HGNC:20626"	"CHD7"	"MONDO:0008965"	"CHARGE syndrome"	"OMIM:214800"	"CHARGE syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20626"	"CHD7"	"OMIM:214800"	"CHARGE syndrome, MIM# 214800"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CHD7"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.20626"	"2020-11-09"
"GENCC_000111-HGNC_24579-OMIM_609439-HP_0000007-GENCC_100002"	"HGNC:24579"	"CIB2"	"MONDO:0012273"	"autosomal recessive nonsyndromic hearing loss 48"	"OMIM:609439"	"Deafness, autosomal recessive 48"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24579"	"CIB2"	"OMIM:609439"	"Deafness, autosomal recessive 48, MIM# 609439"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CIB2"	""	"23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.24579"	"2020-11-09"
"GENCC_000111-HGNC_24212-OMIM_604928-HP_0000007-GENCC_100002"	"HGNC:24212"	"CISD2"	"MONDO:0011502"	"Wolfram syndrome 2"	"OMIM:604928"	"Wolfram syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24212"	"CISD2"	"OMIM:604928"	"Wolfram syndrome 2, MIM# 604928"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CISD2"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.24212"	"2020-11-09"
"GENCC_000111-HGNC_2035-OMIM_614035-HP_0000007-GENCC_100002"	"HGNC:2035"	"CLDN14"	"MONDO:0013537"	"autosomal recessive nonsyndromic hearing loss 29"	"OMIM:614035"	"Deafness, autosomal recessive 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2035"	"CLDN14"	"OMIM:614035"	"Deafness, autosomal recessive 29, MIM# 614035"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CLDN14"	""	"11163249, 20811388, 22246673, 23235333, 27870113, 27838790, 12913076"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2035"	"2020-11-09"
"GENCC_000111-HGNC_2084-OMIM_614129-HP_0000007-GENCC_100002"	"HGNC:2084"	"CLPP"	"MONDO:0013588"	"Perrault syndrome 3"	"OMIM:614129"	"Perrault syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2084"	"CLPP"	"OMIM:614129"	"Perrault syndrome 3, MIM# 614129"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CLPP"	""	"23541340, 27087618, 27899912, 25254289, 23851121"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2084"	"2020-11-09"
"GENCC_000111-HGNC_12605-OMIM_276902-HP_0000007-GENCC_100002"	"HGNC:12605"	"CLRN1"	"MONDO:0010170"	"Usher syndrome type 3A"	"OMIM:276902"	"Usher syndrome, type 3A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12605"	"CLRN1"	"OMIM:276902"	"Usher syndrome, type 3A, MIM# 276902"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CLRN1"	""	"11524702, 24596593, 22135276, 21675857, 19753315, 27110679, 26943149, 22787034"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12605"	"2020-11-09"
"GENCC_000111-HGNC_2186-OMIM_604841-HP_0000006-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0011493"	"Stickler syndrome type 2"	"OMIM:604841"	"Stickler syndrome, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2186"	"COL11A1"	"OMIM:604841"	"Stickler syndrome, type II, MIM# 604841"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2186"	"2020-11-09"
"GENCC_000111-HGNC_2187-OMIM_601868-HP_0000006-GENCC_100003"	"HGNC:2187"	"COL11A2"	"MONDO:0011159"	"autosomal dominant nonsyndromic hearing loss 13"	"OMIM:601868"	"Deafness, autosomal dominant 13"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2187"	"COL11A2"	"OMIM:601868"	"Deafness, autosomal dominant 13, MIM# 601868"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A2"	""	"10581026, 25633957, 16033917"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2187.1"	"2020-11-09"
"GENCC_000111-HGNC_2187-OMIM_609706-HP_0000007-GENCC_100003"	"HGNC:2187"	"COL11A2"	"MONDO:0012333"	"autosomal recessive nonsyndromic hearing loss 53"	"OMIM:609706"	"Deafness, autosomal recessive 53"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2187"	"COL11A2"	"OMIM:609706"	"Deafness, autosomal recessive 53, MIM# 609706"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A2"	""	"10581026, 25633957, 16033917"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2187.2"	"2020-11-09"
"GENCC_000111-HGNC_2187-OMIM_184840-HP_0000006-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0008490"	"otospondylomegaepiphyseal dysplasia, autosomal dominant"	"OMIM:184840"	"Otospondylomegaepiphyseal dysplasia, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2187"	"COL11A2"	"OMIM:184840"	"Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A2"	""	"10581026, 25633957, 16033917"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2187.3"	"2020-11-09"
"GENCC_000111-HGNC_2187-OMIM_215150-HP_0000007-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0044206"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"OMIM:215150"	"Otospondylomegaepiphyseal dysplasia, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2187"	"COL11A2"	"OMIM:215150"	"Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL11A2"	""	"10581026, 25633957, 16033917"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2187.4"	"2020-11-09"
"GENCC_000111-HGNC_2200-OMIM_108300-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome type 1"	"OMIM:108300"	"Stickler syndrome, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2200"	"COL2A1"	"OMIM:108300"	"Stickler syndrome, type I, MIM# 108300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-16 13:07:17"	"https://panelapp.agha.umccr.org/panels/3114/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3114.2200"	"2021-01-21"
"GENCC_000111-HGNC_2207-OMIM_301050-HP_0001417-GENCC_100002"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"X-linked Alport syndrome"	"OMIM:301050"	"Alport syndrome 1, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2207"	"COL4A5"	"OMIM:301050"	"Alport syndrome 1, X-linked, MIM# 301050"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL4A5"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2207"	"2020-11-09"
"GENCC_000111-HGNC_2217-OMIM_614134-HP_0000007-GENCC_100002"	"HGNC:2217"	"COL9A1"	"MONDO:0013590"	"Stickler syndrome, type 4"	"OMIM:614134"	"Stickler syndrome, type IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2217"	"COL9A1"	"OMIM:614134"	"Stickler syndrome, type IV, MIM# 614134"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-16 13:07:17"	"https://panelapp.agha.umccr.org/panels/3114/"	""	"16909383, 21421862, 31090205"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3114.2217"	"2021-01-21"
"GENCC_000111-HGNC_2218-OMIM_614284-HP_0000007-GENCC_100002"	"HGNC:2218"	"COL9A2"	"MONDO:0013666"	"Stickler syndrome, type 5"	"OMIM:614284"	"?Stickler syndrome, type V"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2218"	"COL9A2"	"OMIM:614284"	"Stickler syndrome, type V, MIM# 614284"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-16 13:07:17"	"https://panelapp.agha.umccr.org/panels/3114/"	""	"21671392, 31090205, 33356723"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3114.2218"	"2021-01-21"
"GENCC_000111-HGNC_2876-OMIM_124900-HP_0000006-GENCC_100002"	"HGNC:2876"	"DIAPH1"	"MONDO:0007424"	"autosomal dominant nonsyndromic hearing loss 1"	"OMIM:124900"	"Deafness, autosomal dominant 1, with or without thrombocytopenia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2876"	"DIAPH1"	"OMIM:124900"	"Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DIAPH1"	""	"24781755, 27707755, 27808407, 28003573, 28815995"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2876"	"2020-11-09"
"GENCC_000111-HGNC_2938-OMIM_617605-HP_0000006-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0033258"	"hearing loss, autosomal dominant 71"	"OMIM:617605"	"?Deafness, autosomal dominant 71"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2938"	"DMXL2"	"OMIM:617605"	"Deafness, autosomal dominant 71, MIM#617605"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DMXL2"	""	"27657680, 22875945, 31688942"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2938.1"	"2020-11-09"
"GENCC_000111-HGNC_2938-OMIM_618663-HP_0000007-GENCC_100002"	"HGNC:2938"	"DMXL2"	"MONDO:0032858"	"developmental and epileptic encephalopathy, 81"	"OMIM:618663"	"Developmental and epileptic encephalopathy 81"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2938"	"DMXL2"	"OMIM:618663"	"Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DMXL2"	""	"27657680, 22875945, 31688942"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2938.2"	"2020-11-09"
"GENCC_000111-HGNC_2976-OMIM_604121-HP_0000006-GENCC_100002"	"HGNC:2976"	"DNMT1"	"MONDO:0011397"	"autosomal dominant cerebellar ataxia, deafness and narcolepsy"	"OMIM:604121"	"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2976"	"DNMT1"	"OMIM:604121"	"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DNMT1"	""	"22328086, 21532572, 31984424"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2976.1"	"2020-11-09"
"GENCC_000111-HGNC_2976-OMIM_614116-HP_0000006-GENCC_100002"	"HGNC:2976"	"DNMT1"	"MONDO:0013584"	"hereditary sensory neuropathy-deafness-dementia syndrome"	"OMIM:614116"	"Neuropathy, hereditary sensory, type IE"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2976"	"DNMT1"	"OMIM:614116"	"Neuropathy, hereditary sensory, type IE, 614116"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DNMT1"	""	"22328086, 21532572, 31984424"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2976.2"	"2020-11-09"
"GENCC_000111-HGNC_3178-OMIM_613265-HP_0000006-GENCC_100002"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"OMIM:613265"	"Waardenburg syndrome, type 4B"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3178"	"EDN3"	"OMIM:613265"	"Waardenburg syndrome, type 4B, MIM# 613265"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EDN3"	""	"8630502, 11303518, 19764030"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3178.1"	"2020-11-09"
"GENCC_000111-HGNC_3178-OMIM_613265-HP_0000007-GENCC_100002"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"OMIM:613265"	"Waardenburg syndrome, type 4B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3178"	"EDN3"	"OMIM:613265"	"Waardenburg syndrome, type 4B, MIM# 613265"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EDN3"	""	"8630502, 11303518, 19764030"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3178.2"	"2020-11-09"
"GENCC_000111-HGNC_3180-OMIM_277580-HP_0000006-GENCC_100002"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"OMIM:277580"	"Waardenburg syndrome, type 4A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3180"	"EDNRB"	"OMIM:277580"	"Waardenburg syndrome, type 4A, MIM# 277580"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EDNRB"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3180.1"	"2020-11-09"
"GENCC_000111-HGNC_3180-OMIM_277580-HP_0000007-GENCC_100002"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"OMIM:277580"	"Waardenburg syndrome, type 4A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3180"	"EDNRB"	"OMIM:277580"	"Waardenburg syndrome, type 4A, MIM# 277580"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EDNRB"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3180.2"	"2020-11-09"
"GENCC_000111-HGNC_3420-OMIM_615974-HP_0000007-GENCC_100002"	"HGNC:3420"	"EPS8"	"MONDO:0014428"	"autosomal recessive nonsyndromic hearing loss 102"	"OMIM:615974"	"?Deafness, autosomal recessive 102"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3420"	"EPS8"	"OMIM:615974"	"Deafness, autosomal recessive 102, MIM# 615974"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EPS8"	""	"24741995"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3420"	"2020-11-09"
"GENCC_000111-HGNC_21296-OMIM_617637-HP_0000007-GENCC_100002"	"HGNC:21296"	"EPS8L2"	"MONDO:0033198"	"hearing loss, autosomal recessive 106"	"OMIM:617637"	"Deafness autosomal recessive 106"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21296"	"EPS8L2"	"OMIM:617637"	"Deafness autosomal recessive 106, MIM# 617637"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EPS8L2"	""	"26282398, 23918390, 28281779"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.21296"	"2020-11-09"
"GENCC_000111-HGNC_13281-OMIM_609006-HP_0000006-GENCC_100002"	"HGNC:13281"	"ESPN"	"MONDO:0012170"	"autosomal recessive nonsyndromic hearing loss 36"	"OMIM:609006"	"Deafness, autosomal recessive 36"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13281"	"ESPN"	"OMIM:609006"	"Deafness, autosomal recessive 36, MIM# 609006"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ESPN"	""	"15286153, 18973245, 26445815, 28281779, 10975527, 15930085"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13281.1"	"2020-11-09"
"GENCC_000111-HGNC_13281-OMIM_609006-HP_0000007-GENCC_100004"	"HGNC:13281"	"ESPN"	"MONDO:0012170"	"autosomal recessive nonsyndromic hearing loss 36"	"OMIM:609006"	"Deafness, autosomal recessive 36"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13281"	"ESPN"	"OMIM:609006"	"Deafness, neurosensory, without vestibular involvement, autosomal dominant, MIM# 609006"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ESPN"	""	"15286153, 18973245, 26445815, 28281779, 10975527, 15930085"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13281.2"	"2020-11-09"
"GENCC_000111-HGNC_3473-OMIM_608565-HP_0000007-GENCC_100002"	"HGNC:3473"	"ESRRB"	"MONDO:0012060"	"autosomal recessive nonsyndromic hearing loss 35"	"OMIM:608565"	"Deafness, autosomal recessive 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3473"	"ESRRB"	"OMIM:608565"	"Deafness, autosomal recessive 35, MIM#608565"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ESRRB"	""	"18179891, 31389194, 32681043"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3473"	"2020-11-09"
"GENCC_000111-HGNC_3519-OMIM_602588-HP_0000006-GENCC_100002"	"HGNC:3519"	"EYA1"	"MONDO:0011258"	"branchiootic syndrome 1"	"OMIM:602588"	"Anterior segment anomalies with or without cataract"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3519"	"EYA1"	"OMIM:602588"	"Branchiootic syndrome 1, MIM# 602588"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EYA1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3519"	"2020-11-09"
"GENCC_000111-HGNC_3522-OMIM_601316-HP_0000006-GENCC_100002"	"HGNC:3522"	"EYA4"	"MONDO:0011031"	"autosomal dominant nonsyndromic hearing loss 10"	"OMIM:601316"	"Deafness, autosomal dominant 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3522"	"EYA4"	"OMIM:601316"	"Deafness, autosomal dominant 10, MIM# 601316"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/EYA4"	""	"11159937,  17568404, 25681523, 25963406, 25242383, 26331839, 18219393, 27545760, 15735644"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3522"	"2020-11-09"
"GENCC_000111-HGNC_3642-OMIM_617717-HP_0000007-GENCC_100002"	"HGNC:3642"	"FDXR"	"MONDO:0060582"	"auditory neuropathy-optic atrophy syndrome"	"OMIM:617717"	"Auditory neuropathy and optic atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3642"	"FDXR"	"OMIM:617717"	"Auditory neuropathy and optic atrophy, MIM# 617717"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/FDXR"	""	"28965846"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3642"	"2020-11-09"
"GENCC_000111-HGNC_3681-OMIM_610706-HP_0000007-GENCC_100002"	"HGNC:3681"	"FGF3"	"MONDO:0012541"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"OMIM:610706"	"Deafness, congenital with inner ear agenesis, microtia, and microdontia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3681"	"FGF3"	"OMIM:610706"	"Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/FGF3"	""	"21480479, 21306635, 18435799, 17236138, 21306635, 18701883, 8223243, 26995070, 29902227, 30504125"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3681"	"2020-11-09"
"GENCC_000111-HGNC_16135-OMIM_618635-HP_0000007-GENCC_100002"	"HGNC:16135"	"FITM2"	"MONDO:0032842"	"Siddiqi syndrome"	"OMIM:618635"	"Siddiqi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16135"	"FITM2"	"OMIM:618635"	"Siddiqi syndrome MIM#618635"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/FITM2"	""	"28067622, 30214770, 30288795"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16135"	"2020-11-09"
"GENCC_000111-HGNC_3815-OMIM_600791-HP_0000007-GENCC_100002"	"HGNC:3815"	"FOXI1"	"MONDO:0010933"	"autosomal recessive nonsyndromic hearing loss 4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3815"	"FOXI1"	"OMIM:600791"	"Enlarged vestibular aqueduct, MIM# 600791"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/FOXI1"	""	"29242249, 9843211, 17503324"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3815"	"2020-11-09"
"GENCC_000111-HGNC_4172-OMIM_146255-HP_0000006-GENCC_100002"	"HGNC:4172"	"GATA3"	"MONDO:0007797"	"hypoparathyroidism-deafness-renal disease syndrome"	"OMIM:146255"	"Hypoparathyroidism, sensorineural deafness, and renal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4172"	"GATA3"	"OMIM:146255"	"Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GATA3"	""	"10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4172"	"2020-11-09"
"GENCC_000111-HGNC_18183-OMIM_601869-HP_0000007-GENCC_100002"	"HGNC:18183"	"GIPC3"	"MONDO:0011160"	"autosomal recessive nonsyndromic hearing loss 15"	"OMIM:601869"	"Deafness, autosomal recessive 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18183"	"GIPC3"	"OMIM:601869"	"Deafness, autosomal recessive 15, MIM# 601869"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GIPC3"	""	"21326233, 21660509"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18183"	"2020-11-09"
"GENCC_000111-HGNC_4284-OMIM_220290-HP_0000007-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0009076"	"autosomal recessive nonsyndromic hearing loss 1A"	"OMIM:220290"	"Deafness, digenic GJB2/GJB6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4284"	"GJB2"	"OMIM:220290"	"Deafness, autosomal recessive 1A, MIM#220290"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GJB2"	""	"9529365, 14985372, 19941053, 11354642"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4284"	"2020-11-09"
"GENCC_000111-HGNC_29501-OMIM_604213-HP_0000007-GENCC_100002"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"OMIM:604213"	"Chudley-McCullough syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29501"	"GPSM2"	"OMIM:604213"	"Chudley-McCullough syndrome, MIM# 604213"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GPSM2"	""	"20602914, 22578326, 28387217, 27180139, 27064331"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.29501"	"2020-11-09"
"GENCC_000111-HGNC_2799-OMIM_608641-HP_0000006-GENCC_100002"	"HGNC:2799"	"GRHL2"	"MONDO:0012083"	"autosomal dominant nonsyndromic hearing loss 28"	"OMIM:608641"	"Deafness, autosomal dominant 28"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2799"	"GRHL2"	"OMIM:608641"	"Deafness, autosomal dominant 28, MIM# 608641"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GRHL2"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2799"	"2020-11-09"
"GENCC_000111-HGNC_31673-OMIM_613285-HP_0000007-GENCC_100002"	"HGNC:31673"	"GRXCR1"	"MONDO:0013210"	"autosomal recessive nonsyndromic hearing loss 25"	"OMIM:613285"	"Deafness, autosomal recessive 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:31673"	"GRXCR1"	"OMIM:613285"	"Deafness, autosomal recessive 25, MIM# 613285"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GRXCR1"	""	"20137778, 25802247, 26226137, 26445815, 26969326, 20137774"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.31673"	"2020-11-09"
"GENCC_000111-HGNC_4796-OMIM_617660-HP_0000007-GENCC_100002"	"HGNC:4796"	"HAAO"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"OMIM:617660"	"Vertebral, cardiac, renal, and limb defects syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4796"	"HAAO"	"OMIM:617660"	"Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HAAO"	""	"28792876"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4796"	"2020-11-09"
"GENCC_000111-HGNC_4817-OMIM_614926-HP_0000007-GENCC_100002"	"HGNC:4817"	"HARS2"	"MONDO:0013972"	"Perrault syndrome 2"	"OMIM:614926"	"Perrault syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4817"	"HARS2"	"OMIM:614926"	"Perrault syndrome 2, MIM# 614926"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HARS2"	""	"21464306, 27650058, 31827252, 31486067"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4817"	"2020-11-09"
"GENCC_000111-HGNC_4893-OMIM_608265-HP_0000005-GENCC_100002"	"HGNC:4893"	"HGF"	"MONDO:0012003"	"autosomal recessive nonsyndromic hearing loss 39"	"OMIM:608265"	"Deafness, autosomal recessive 39"	"GENCC:100002"	"Strong"	"HP:0000005"	"Unknown"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4893"	"HGF"	"OMIM:608265"	"Deafness, autosomal recessive 39, MIM# 608265"	"HP:0000005"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HGF"	""	"19576567, 27488639"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4893"	"2020-11-09"
"GENCC_000111-HGNC_17513-OMIM_616707-HP_0000006-GENCC_100002"	"HGNC:17513"	"HOMER2"	"MONDO:0014740"	"autosomal dominant nonsyndromic hearing loss 68"	"OMIM:616707"	"?Deafness, autosomal dominant 68"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17513"	"HOMER2"	"OMIM:616707"	"Deafness, autosomal dominant 68, MIM# 616707"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HOMER2"	""	"25816005, 30047143, 25816005"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.17513"	"2020-11-09"
"GENCC_000111-HGNC_5103-OMIM_612290-HP_0000006-GENCC_100002"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"?Microtia, hearing impairment, and cleft palate (AR)"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"Microtia with or without hearing impairment, MIM# 612290"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HOXA2"	""	"18394579, 23775976, 27503514, 32649979, 31567444"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.5103.1"	"2020-11-09"
"GENCC_000111-HGNC_5103-OMIM_612290-HP_0000007-GENCC_100004"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"?Microtia, hearing impairment, and cleft palate (AR)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"Microtia with or without hearing impairment, MIM# 612290"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HOXA2"	""	"18394579, 23775976, 27503514, 32649979, 31567444"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.5103.2"	"2020-11-09"
"GENCC_000111-HGNC_5213-OMIM_233400-HP_0000007-GENCC_100002"	"HGNC:5213"	"HSD17B4"	"MONDO:0009300"	"Perrault syndrome 1"	"OMIM:233400"	"Perrault syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5213"	"HSD17B4"	"OMIM:233400"	"Perrault syndrome 1, MIM# 233400"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/HSD17B4"	""	"24553428, 23181892, 20673864"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.5213"	"2020-11-09"
"GENCC_000111-HGNC_28741-OMIM_609646-HP_0000007-GENCC_100002"	"HGNC:28741"	"ILDR1"	"MONDO:0012326"	"autosomal recessive nonsyndromic hearing loss 42"	"OMIM:609646"	"Deafness, autosomal recessive 42"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:28741"	"ILDR1"	"OMIM:609646"	"Deafness, autosomal recessive 42, MIM# 609646"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ILDR1"	""	"21255762, 23226338, 22903915, 27344577, 21255762, 23239027, 25822906, 25819842, 24990150"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.28741"	"2020-11-09"
"GENCC_000111-HGNC_6240-OMIM_612347-HP_0000007-GENCC_100002"	"HGNC:6240"	"KCNE1"	"MONDO:0012871"	"Jervell and Lange-Nielsen syndrome 2"	"OMIM:612347"	"Jervell and Lange-Nielsen syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6240"	"KCNE1"	"OMIM:612347"	"Jervell and Lange-Nielsen syndrome 2, MIM# 612347"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KCNE1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6240"	"2020-11-09"
"GENCC_000111-HGNC_6256-OMIM_612780-HP_0000007-GENCC_100002"	"HGNC:6256"	"KCNJ10"	"MONDO:0013005"	"EAST syndrome"	"OMIM:612780"	"SESAME syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6256"	"KCNJ10"	"OMIM:612780"	"SESAME syndrome, MIM# 612780"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KCNJ10"	""	"21849804, 19289823"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6256"	"2020-11-09"
"GENCC_000111-HGNC_6294-OMIM_220400-HP_0000007-GENCC_100002"	"HGNC:6294"	"KCNQ1"	"MONDO:0024540"	"Jervell and Lange-Nielsen syndrome 1"	"OMIM:220400"	"Jervell and Lange-Nielsen syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6294"	"KCNQ1"	"OMIM:220400"	"Jervell and Lange-Nielsen syndrome, MIM# 220400"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KCNQ1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6294"	"2020-11-09"
"GENCC_000111-HGNC_6298-OMIM_600101-HP_0000006-GENCC_100002"	"HGNC:6298"	"KCNQ4"	"MONDO:0010817"	"autosomal dominant nonsyndromic hearing loss 2A"	"OMIM:600101"	"Deafness, autosomal dominant 2A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6298"	"KCNQ4"	"OMIM:600101"	"Deafness, autosomal dominant 2A, MIM# 600101"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KCNQ4"	""	"10369879"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6298"	"2020-11-09"
"GENCC_000111-HGNC_6342-OMIM_172800-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0008244"	"piebaldism"	"OMIM:172800"	"Piebaldism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6342"	"KIT"	"OMIM:172800"	"Piebaldism, MIM# 172800"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KIT"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6342"	"2020-11-09"
"GENCC_000111-HGNC_17095-OMIM_615300-HP_0000007-GENCC_100002"	"HGNC:17095"	"LARS2"	"MONDO:0014126"	"Perrault syndrome 4"	"OMIM:615300"	"Perrault syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17095"	"LARS2"	"OMIM:615300"	"Perrault syndrome 4, MIM#615300"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LARS2"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.17095"	"2020-11-09"
"GENCC_000111-HGNC_21253-OMIM_610265-HP_0000007-GENCC_100002"	"HGNC:21253"	"LHFPL5"	"MONDO:0012460"	"autosomal recessive nonsyndromic hearing loss 67"	"OMIM:610265"	"Deafness, autosomal recessive 67"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21253"	"LHFPL5"	"OMIM:610265"	"Deafness, autosomal recessive 67, MIM# 610265"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LHFPL5"	""	"16459341, 16752389, 21816241, 19888295, 26437881, 26029705, 15905332, 19102128, 25550511"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.21253"	"2020-11-09"
"GENCC_000111-HGNC_6595-OMIM_221750-HP_0000007-GENCC_100002"	"HGNC:6595"	"LHX3"	"MONDO:0009091"	"non-acquired combined pituitary hormone deficiency with spine abnormalities"	"OMIM:221750"	"Pituitary hormone deficiency, combined, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6595"	"LHX3"	"OMIM:221750"	"Pituitary hormone deficiency, combined, 3, MIM# 221750"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LHX3"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6595"	"2020-11-09"
"GENCC_000111-HGNC_6653-OMIM_601412-HP_0000006-GENCC_100002"	"HGNC:6653"	"LMX1A"	"MONDO:0011074"	"autosomal dominant nonsyndromic hearing loss 7"	"OMIM:601412"	"Deafness, autosomal dominant 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6653"	"LMX1A"	"OMIM:601412"	"Deafness, autosomal dominant 7 MIM#601412"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LMX1A"	""	"29754270, 29971487, 32840933"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6653.1"	"2020-11-09"
"GENCC_000111-HGNC_26521-OMIM_613079-HP_0000007-GENCC_100002"	"HGNC:26521"	"LOXHD1"	"MONDO:0013119"	"autosomal recessive nonsyndromic hearing loss 77"	"OMIM:613079"	"Deafness, autosomal recessive 77"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26521"	"LOXHD1"	"OMIM:613079"	"Deafness, autosomal recessive 77, MIM# 613079"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LOXHD1"	""	"19732867, 25792669"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26521"	"2020-11-09"
"GENCC_000111-HGNC_25033-OMIM_611451-HP_0000007-GENCC_100002"	"HGNC:25033"	"LRTOMT"	"MONDO:0012670"	"autosomal recessive nonsyndromic hearing loss 63"	"OMIM:611451"	"Deafness, autosomal recessive 63"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25033"	"LRTOMT"	"OMIM:611451"	"Deafness, autosomal recessive 63, MIM# 611451"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/LRTOMT"	""	"18953341, 18794526, 21739586, 18794526"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.25033"	"2020-11-09"
"GENCC_000111-HGNC_26401-OMIM_610153-HP_0000007-GENCC_100002"	"HGNC:26401"	"MARVELD2"	"MONDO:0012420"	"autosomal recessive nonsyndromic hearing loss 49"	"OMIM:610153"	"Deafness, autosomal recessive 49"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26401"	"MARVELD2"	"OMIM:610153"	"Deafness, autosomal recessive 49, MIM# 610153"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MARVELD2"	""	"17186462, 18084694, 22903915, 27344577, 26677943, 23979167"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26401"	"2020-11-09"
"GENCC_000111-HGNC_6901-OMIM_257920-HP_0000007-GENCC_100002"	"HGNC:6901"	"MASP1"	"MONDO:0009770"	"3MC syndrome 1"	"OMIM:257920"	"3MC syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6901"	"MASP1"	"OMIM:257920"	"3MC syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"7677137, 21258343"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.6901"	"2020-11-09"
"GENCC_000111-HGNC_7105-OMIM_193510-HP_0000006-GENCC_100002"	"HGNC:7105"	"MITF"	"MONDO:0008671"	"Waardenburg syndrome type 2A"	"OMIM:193510"	"Waardenburg syndrome, type 2A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7105"	"MITF"	"OMIM:193510"	"Waardenburg syndrome, type 2A, MIM# 193510"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MITF"	""	"7874167, 23512835, 27759048, 28356565, 9499424, 27349893"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7105"	"2020-11-09"
"GENCC_000111-HGNC_3496-OMIM_618145-HP_0000007-GENCC_100002"	"HGNC:3496"	"MPZL2"	"MONDO:0029142"	"hearing loss, autosomal recessive 111"	"OMIM:618145"	"Deafness, autosomal recessive 111"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3496"	"MPZL2"	"OMIM:618145"	"Deafness, autosomal recessive 111, MIM#618145"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MPZL2"	""	"29982980, 29961571"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3496"	"2020-11-09"
"GENCC_000111-HGNC_27375-OMIM_613718-HP_0000005-GENCC_100002"	"HGNC:27375"	"MSRB3"	"MONDO:0013386"	"autosomal recessive nonsyndromic hearing loss 74"	"OMIM:613718"	"Deafness, autosomal recessive 74"	"GENCC:100002"	"Strong"	"HP:0000005"	"Unknown"	"GENCC:000111"	"PanelApp Australia"	"HGNC:27375"	"MSRB3"	"OMIM:613718"	"Deafness, autosomal recessive 74, MIM# 613718"	"HP:0000005"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MSRB3"	""	"19650862, 24191262, 21185009"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.27375"	"2020-11-09"
"GENCC_000111-HGNC_23212-OMIM_600652-HP_0000006-GENCC_100002"	"HGNC:23212"	"MYH14"	"MONDO:0010915"	"autosomal dominant nonsyndromic hearing loss 4A"	"OMIM:600652"	"Deafness, autosomal dominant 4A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23212"	"MYH14"	"OMIM:600652"	"Deafness, autosomal dominant 4A, MIM# 600652"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYH14"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.23212"	"2020-11-09"
"GENCC_000111-HGNC_7594-OMIM_600316-HP_0000007-GENCC_100002"	"HGNC:7594"	"MYO15A"	"MONDO:0010860"	"autosomal recessive nonsyndromic hearing loss 3"	"OMIM:600316"	"Deafness, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7594"	"MYO15A"	"OMIM:600316"	"Deafness, autosomal recessive 3, MIM# 600316"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO15A"	""	"27375115, 26226137, 23208854, 19309289, 9603735, 10915760"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7594"	"2020-11-09"
"GENCC_000111-HGNC_7601-OMIM_607101-HP_0000007-GENCC_100002"	"HGNC:7601"	"MYO3A"	"MONDO:0011774"	"autosomal recessive nonsyndromic hearing loss 30"	"OMIM:607101"	"Deafness, autosomal recessive 30"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7601"	"MYO3A"	"OMIM:607101"	"Deafness, autosomal recessive 30, MIM# 607101"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO3A"	""	"21165622, 26754646, 23990876"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7601"	"2020-11-09"
"GENCC_000111-HGNC_7605-OMIM_606346-HP_0000006-GENCC_100002"	"HGNC:7605"	"MYO6"	"MONDO:0011660"	"autosomal dominant nonsyndromic hearing loss 22"	"OMIM:606346"	"Deafness, autosomal dominant 22"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7605"	"MYO6"	"OMIM:606346"	"Deafness, autosomal dominant 22, MIM# 606346"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO6"	""	"24105371, 11468689, 25999546, 25227905, 18348273, 27171474"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7605.1"	"2020-11-09"
"GENCC_000111-HGNC_7605-OMIM_607821-HP_0000007-GENCC_100002"	"HGNC:7605"	"MYO6"	"MONDO:0011912"	"autosomal recessive nonsyndromic hearing loss 37"	"OMIM:607821"	"Deafness, autosomal recessive 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7605"	"MYO6"	"OMIM:607821"	"Deafness, autosomal recessive 37, MIM# 607821"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO6"	""	"24105371, 11468689, 25999546, 25227905, 18348273, 27171474"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7605.2"	"2020-11-09"
"GENCC_000111-HGNC_7606-OMIM_601317-HP_0000006-GENCC_100002"	"HGNC:7606"	"MYO7A"	"MONDO:0011032"	"autosomal dominant nonsyndromic hearing loss 11"	"OMIM:601317"	"Deafness, autosomal dominant 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7606"	"MYO7A"	"OMIM:601317"	"Deafness, autosomal dominant 11, MIM# 601317"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO7A"	""	"9354784, 15300860, 15121790, 15221449, 16449806, 21150918, 23451214, 23383098, 28802369, 29400105, 23559863, 18181211, 25211151"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7606.1"	"2020-11-09"
"GENCC_000111-HGNC_7606-OMIM_600060-HP_0000007-GENCC_100004"	"HGNC:7606"	"MYO7A"	"MONDO:0010807"	"autosomal recessive nonsyndromic hearing loss 2"	"OMIM:600060"	"Deafness, autosomal recessive 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7606"	"MYO7A"	"OMIM:600060"	"Deafness, autosomal recessive 2, 600060"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO7A"	""	"9354784, 15300860, 15121790, 15221449, 16449806, 21150918, 23451214, 23383098, 28802369, 29400105, 23559863, 18181211, 25211151"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7606.2"	"2020-11-09"
"GENCC_000111-HGNC_7606-OMIM_276900-HP_0000007-GENCC_100002"	"HGNC:7606"	"MYO7A"	"MONDO:0010168"	"Usher syndrome type 1"	"OMIM:276900"	"Usher syndrome, type 1B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7606"	"MYO7A"	"OMIM:276900"	"Usher syndrome, type 1B, MIM# 276900"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MYO7A"	""	"9354784, 15300860, 15121790, 15221449, 16449806, 21150918, 23451214, 23383098, 28802369, 29400105, 23559863, 18181211, 25211151"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7606.3"	"2020-11-09"
"GENCC_000111-HGNC_26274-OMIM_618434-HP_0000007-GENCC_100004"	"HGNC:26274"	"NARS2"	"MONDO:0032749"	"hearing loss, autosomal recessive 94"	"OMIM:618434"	"?Deafness, autosomal recessive 94"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26274"	"NARS2"	"OMIM:618434"	"Deafness, autosomal recessive 94, MIM# 618434"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/NARS2"	""	"25807530, 28077841, 30327238, 25385316"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26274.1"	"2020-11-09"
"GENCC_000111-HGNC_26274-OMIM_616239-HP_0000007-GENCC_100002"	"HGNC:26274"	"NARS2"	"MONDO:0014547"	"combined oxidative phosphorylation defect type 24"	"OMIM:616239"	"Combined oxidative phosphorylation deficiency 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26274"	"NARS2"	"OMIM:616239"	"Combined oxidative phosphorylation deficiency 24, MIM#616239"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/NARS2"	""	"25807530, 28077841, 30327238, 25385316"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26274.2"	"2020-11-09"
"GENCC_000111-HGNC_8140-OMIM_125250-HP_0000006-GENCC_100002"	"HGNC:8140"	"OPA1"	"MONDO:0007429"	"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"	"OMIM:125250"	"Optic atrophy plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8140"	"OPA1"	"OMIM:125250"	"Optic atrophy plus syndrome, MIM# 125250"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OPA1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8140"	"2020-11-09"
"GENCC_000111-HGNC_15761-OMIM_616340-HP_0000006-GENCC_100002"	"HGNC:15761"	"OSBPL2"	"MONDO:0014594"	"autosomal dominant nonsyndromic hearing loss 67"	"OMIM:616340"	"Deafness, autosomal dominant 67"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15761"	"OSBPL2"	"OMIM:616340"	"Deafness, autosomal dominant 67, MIM# 616340"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OSBPL2"	""	"25077649, 25759012, 31451425, 30894143"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.15761"	"2020-11-09"
"GENCC_000111-HGNC_16378-OMIM_607039-HP_0000007-GENCC_100002"	"HGNC:16378"	"OTOA"	"MONDO:0011762"	"autosomal recessive nonsyndromic hearing loss 22"	"OMIM:607039"	"Deafness, autosomal recessive 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16378"	"OTOA"	"OMIM:607039"	"Deafness, autosomal recessive 22, MIM# 607039"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OTOA"	""	"11972037, 19888295, 23173898, 16460646, 26029705, 26969326, 23129639"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16378"	"2020-11-09"
"GENCC_000111-HGNC_8516-OMIM_614945-HP_0000007-GENCC_100002"	"HGNC:8516"	"OTOG"	"MONDO:0013985"	"autosomal recessive nonsyndromic hearing loss 18B"	"OMIM:614945"	"Deafness, autosomal recessive 18B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8516"	"OTOG"	"OMIM:614945"	"Deafness, autosomal recessive 18B, MIM#614945"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OTOG"	""	"29800624, 23122587"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8516"	"2020-11-09"
"GENCC_000111-HGNC_26901-OMIM_614944-HP_0000007-GENCC_100002"	"HGNC:26901"	"OTOGL"	"MONDO:0013984"	"autosomal recessive nonsyndromic hearing loss 84B"	"OMIM:614944"	"Deafness, autosomal recessive 84B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26901"	"OTOGL"	"OMIM:614944"	"Deafness, autosomal recessive 84B, MIM# 614944"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/OTOGL"	""	"23122586, 23850727, 25829320,  25719458, 28426234"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26901"	"2020-11-09"
"GENCC_000111-HGNC_15459-OMIM_608224-HP_0000006-GENCC_100002"	"HGNC:15459"	"P2RX2"	"MONDO:0011994"	"autosomal dominant nonsyndromic hearing loss 41"	"OMIM:608224"	"Deafness, autosomal dominant 41"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15459"	"P2RX2"	"OMIM:608224"	"Deafness, autosomal dominant 41, MIM# 608224"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/P2RX2"	""	"23345450, 24211385"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.15459"	"2020-11-09"
"GENCC_000111-HGNC_8615-OMIM_615560-HP_0000007-GENCC_100002"	"HGNC:8615"	"PAX1"	"MONDO:0014254"	"otofaciocervical syndrome 2"	"OMIM:615560"	"Otofaciocervical syndrome 2 with T-cell deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8615"	"PAX1"	"OMIM:615560"	"Otofaciocervical syndrome 2, MIM# 615560"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PAX1"	""	"23851939, 29681087"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8615"	"2020-11-09"
"GENCC_000111-HGNC_8617-OMIM_193500-HP_0000006-GENCC_100002"	"HGNC:8617"	"PAX3"	"MONDO:0008670"	"Waardenburg syndrome type 1"	"OMIM:193500"	"Waardenburg syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8617"	"PAX3"	"OMIM:193500"	"Waardenburg syndrome, type 1, MIM# 193500"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PAX3"	""	"27759048, 7897628, 28690861, 30314436, 25932447, 7726174, 12949970"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8617.1"	"2020-11-09"
"GENCC_000111-HGNC_8617-OMIM_193500-HP_0000007-GENCC_100002"	"HGNC:8617"	"PAX3"	"MONDO:0008670"	"Waardenburg syndrome type 1"	"OMIM:193500"	"Waardenburg syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8617"	"PAX3"	"OMIM:193500"	"Waardenburg syndrome, type 1, MIM# 193500"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PAX3"	""	"27759048, 7897628, 28690861, 30314436, 25932447, 7726174, 12949970"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8617.2"	"2020-11-09"
"GENCC_000111-HGNC_8632-OMIM_617641-HP_0000006-GENCC_100002"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"OMIM:617641"	"Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8632"	"PBX1"	"OMIM:617641"	"Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PBX1"	""	"29036646"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8632"	"2020-11-09"
"GENCC_000111-HGNC_14674-OMIM_602083-HP_0000007-GENCC_100002"	"HGNC:14674"	"PCDH15"	"MONDO:0011186"	"Usher syndrome type 1F"	"OMIM:602083"	"Usher syndrome, type 1F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14674"	"PCDH15"	"OMIM:602083"	"Usher syndrome, type 1F, MIM# 602083"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PCDH15"	""	"11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.14674.1"	"2020-11-09"
"GENCC_000111-HGNC_14674-OMIM_609533-HP_0000007-GENCC_100004"	"HGNC:14674"	"PCDH15"	"MONDO:0012293"	"autosomal recessive nonsyndromic hearing loss 23"	"OMIM:609533"	"Deafness, autosomal recessive 23"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14674"	"PCDH15"	"OMIM:609533"	"Deafness, autosomal recessive 23, MIM# 609533"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PCDH15"	""	"11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.14674.2"	"2020-11-09"
"GENCC_000111-HGNC_26257-OMIM_618003-HP_0000007-GENCC_100002"	"HGNC:26257"	"PDZD7"	"MONDO:0033201"	"hearing loss, autosomal recessive 57"	"OMIM:618003"	"Deafness, autosomal recessive 57"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26257"	"PDZD7"	"OMIM:618003"	"Deafness, autosomal recessive 57, MIM# 618003"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PDZD7"	""	"19028668, 26416264, 26849169, 27068579, 26445815, 28173822, 24334608"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26257"	"2020-11-09"
"GENCC_000111-HGNC_8850-OMIM_234580-HP_0000007-GENCC_100002"	"HGNC:8850"	"PEX1"	"MONDO:0024544"	"Heimler syndrome 1"	"OMIM:234580"	"Heimler syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8850"	"PEX1"	"OMIM:234580"	"Heimler syndrome 1, MIM# 234580"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PEX1"	""	"32596134, 31831025, 27872819, 27633571, 27302843"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8850"	"2020-11-09"
"GENCC_000111-HGNC_9083-OMIM_612394-HP_0000007-GENCC_100002"	"HGNC:9083"	"PLOD3"	"MONDO:0012892"	"bone fragility with contractures, arterial rupture, and deafness"	"OMIM:612394"	"BCARD syndrome (lysyl hydroxylase 3 deficiency)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9083"	"PLOD3"	"OMIM:612394"	"Lysyl hydroxylase 3 deficiency, MIM#612394"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"18834968, 31129566, 30237576, 30463024"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.9083"	"2020-11-09"
"GENCC_000111-HGNC_9090-OMIM_618787-HP_0000006-GENCC_100002"	"HGNC:9090"	"PLS1"	"MONDO:0032917"	"hearing loss, autosomal dominant 76"	"OMIM:618787"	"Deafness, autosomal dominant 76"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9090"	"PLS1"	"OMIM:618787"	"Deafness, autosomal dominant 76, MIM# 618787"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PLS1"	""	"31397523, 31432506, 30872814"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9090"	"2020-11-09"
"GENCC_000111-HGNC_23166-OMIM_614932-HP_0000007-GENCC_100002"	"HGNC:23166"	"PNPT1"	"MONDO:0013977"	"combined oxidative phosphorylation defect type 13"	"OMIM:614932"	"Combined oxidative phosphorylation deficiency 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23166"	"PNPT1"	"OMIM:614932"	"Combined oxidative phosphorylation deficiency 13, MIM#614932"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PNPT1"	""	"23084290, 31752325, 30244537"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.23166.1"	"2020-11-09"
"GENCC_000111-HGNC_23166-OMIM_614934-HP_0000007-GENCC_100004"	"HGNC:23166"	"PNPT1"	"MONDO:0013978"	"autosomal recessive nonsyndromic hearing loss 70"	"OMIM:614934"	"Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23166"	"PNPT1"	"OMIM:614934"	"Deafness, autosomal recessive 70, MIM#614934"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PNPT1"	""	"23084290, 31752325, 30244537"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.23166.2"	"2020-11-09"
"GENCC_000111-HGNC_9175-OMIM_615381-HP_0000006-GENCC_100002"	"HGNC:9175"	"POLD1"	"MONDO:0014157"	"mandibular hypoplasia-deafness-progeroid syndrome"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9175"	"POLD1"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381;Non-syndromic deafness"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/POLD1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9175.1"	"2020-11-09"
"GENCC_000111-HGNC_9217-OMIM_304400-HP_0001417-GENCC_100002"	"HGNC:9217"	"POU3F4"	"MONDO:0010576"	"X-linked mixed hearing loss with perilymphatic gusher"	"OMIM:304400"	"Deafness, X-linked 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9217"	"POU3F4"	"OMIM:304400"	"Deafness, X-linked 2, MIM# 304400"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/POU3F4"	""	"31786483, 30176854"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9217"	"2020-11-09"
"GENCC_000111-HGNC_9220-OMIM_602459-HP_0000006-GENCC_100002"	"HGNC:9220"	"POU4F3"	"MONDO:0011226"	"autosomal dominant nonsyndromic hearing loss 15"	"OMIM:602459"	"Deafness, autosomal dominant 15/52"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9220"	"POU4F3"	"OMIM:602459"	"Deafness, autosomal dominant 15, MIM# 602459"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/POU4F3"	""	"18228599, 9506947, 20434433, 28545070, 15254021, 8637595"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9220"	"2020-11-09"
"GENCC_000111-HGNC_9462-OMIM_304500-HP_0001417-GENCC_100002"	"HGNC:9462"	"PRPS1"	"MONDO:0010577"	"hearing loss, X-linked 1"	"OMIM:304500"	"Deafness, X-linked 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9462"	"PRPS1"	"OMIM:304500"	"Deafness, X-linked 1, MIM# 304500"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PRPS1"	""	"24961627, 20021999, 27886419, 25785835, 25182139, 17701900, 25491489, 27256512"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9462.1"	"2020-11-09"
"GENCC_000111-HGNC_9462-OMIM_311070-HP_0001417-GENCC_100002"	"HGNC:9462"	"PRPS1"	"MONDO:0010699"	"Charcot-Marie-Tooth disease X-linked recessive 5"	"OMIM:311070"	"Charcot-Marie-Tooth disease, X-linked recessive, 5"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9462"	"PRPS1"	"OMIM:311070"	"Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PRPS1"	""	"24961627, 20021999, 27886419, 25785835, 25182139, 17701900, 25491489, 27256512"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9462.2"	"2020-11-09"
"GENCC_000111-HGNC_9462-OMIM_301835-HP_0001417-GENCC_100002"	"HGNC:9462"	"PRPS1"	"MONDO:0010533"	"Arts syndrome"	"OMIM:301835"	"Arts syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9462"	"PRPS1"	"OMIM:301835"	"Arts syndrome, MIM# 301835"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PRPS1"	""	"24961627, 20021999, 27886419, 25785835, 25182139, 17701900, 25491489, 27256512"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9462.3"	"2020-11-09"
"GENCC_000111-HGNC_9679-OMIM_613391-HP_0000007-GENCC_100002"	"HGNC:9679"	"PTPRQ"	"MONDO:0013249"	"autosomal recessive nonsyndromic hearing loss 84A"	"OMIM:613391"	"Deafness, autosomal recessive 84A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9679"	"PTPRQ"	"OMIM:613391"	"Deafness, autosomal recessive 84A, MIM# 613391"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PTPRQ"	""	"20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9679.1"	"2020-11-09"
"GENCC_000111-HGNC_9679-OMIM_617663-HP_0000006-GENCC_100003"	"HGNC:9679"	"PTPRQ"	"MONDO:0033260"	"hearing loss, autosomal dominant 73"	"OMIM:617663"	"Deafness, autosomal dominant 73"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9679"	"PTPRQ"	"OMIM:617663"	"Deafness, autosomal dominant 73, MIM# 617663"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PTPRQ"	""	"20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9679.2"	"2020-11-09"
"GENCC_000111-HGNC_9944-OMIM_611022-HP_0000007-GENCC_100002"	"HGNC:9944"	"RDX"	"MONDO:0012602"	"autosomal recessive nonsyndromic hearing loss 24"	"OMIM:611022"	"Deafness, autosomal recessive 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9944"	"RDX"	"OMIM:611022"	"Deafness, autosomal recessive 24, MIM# 611022"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/RDX"	""	"17226784, 19215054, 22567349, 26226137, 15314067"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9944"	"2020-11-09"
"GENCC_000111-HGNC_3169-OMIM_610419-HP_0000007-GENCC_100002"	"HGNC:3169"	"S1PR2"	"MONDO:0012485"	"autosomal recessive nonsyndromic hearing loss 68"	"OMIM:610419"	"Deafness, autosomal recessive 68"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3169"	"S1PR2"	"OMIM:610419"	"Deafness, autosomal recessive 68, MIM# 610419"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/S1PR2"	""	"26805784, 29776397, 27383011"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3169"	"2020-11-09"
"GENCC_000111-HGNC_10524-OMIM_107480-HP_0000006-GENCC_100002"	"HGNC:10524"	"SALL1"	"MONDO:0054581"	"Townes-Brocks syndrome 1"	"OMIM:107480"	"Townes-Brocks branchiootorenal-like syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10524"	"SALL1"	"OMIM:107480"	"Townes-Brocks syndrome 1, MIM#107480"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SALL1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10524"	"2020-11-09"
"GENCC_000111-HGNC_15924-OMIM_607323-HP_0000006-GENCC_100002"	"HGNC:15924"	"SALL4"	"MONDO:0011812"	"Duane-radial ray syndrome"	"OMIM:607323"	"Duane-radial ray syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15924"	"SALL4"	"OMIM:607323"	"Duane-radial ray syndrome, MIM#607323"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:10"	"https://panelapp.agha.umccr.org/panels/42/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.15924"	"2020-12-30"
"GENCC_000111-HGNC_21061-OMIM_614739-HP_0000007-GENCC_100002"	"HGNC:21061"	"SERAC1"	"MONDO:0013875"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"	"OMIM:614739"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21061"	"SERAC1"	"OMIM:614739"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SERAC1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.21061"	"2020-11-09"
"GENCC_000111-HGNC_8950-OMIM_613453-HP_0000007-GENCC_100002"	"HGNC:8950"	"SERPINB6"	"MONDO:0013269"	"autosomal recessive nonsyndromic hearing loss 91"	"OMIM:613453"	"?Deafness, autosomal recessive 91"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8950"	"SERPINB6"	"OMIM:613453"	"Deafness, autosomal recessive 91, MIM# 613453"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SERPINB6"	""	"20451170, 25719458, 23669344"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8950"	"2020-11-09"
"GENCC_000111-HGNC_10817-OMIM_617575-HP_0000007-GENCC_100002"	"HGNC:10817"	"SGPL1"	"MONDO:0033203"	"nephrotic syndrome 14"	"OMIM:617575"	"RENI syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10817"	"SGPL1"	"OMIM:617575"	"Nephrotic syndrome, type 14, MIM# 617575"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SGPL1"	""	"28181337, 28165339, 28165343"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10817"	"2020-11-09"
"GENCC_000111-HGNC_10887-OMIM_605192-HP_0000006-GENCC_100002"	"HGNC:10887"	"SIX1"	"MONDO:0011519"	"autosomal dominant nonsyndromic hearing loss 23"	"OMIM:605192"	"Deafness, autosomal dominant 23"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10887"	"SIX1"	"OMIM:605192"	"Deafness, autosomal dominant 23, MIM# 605192"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SIX1"	""	"15141091, 18330911, 21254961, 17637804, 29500469, 21700001, 24164807"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10887.1"	"2020-11-09"
"GENCC_000111-HGNC_10887-OMIM_608389-HP_0000006-GENCC_100002"	"HGNC:10887"	"SIX1"	"MONDO:0012025"	"branchiootic syndrome 3"	"OMIM:608389"	"Branchiootic syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10887"	"SIX1"	"OMIM:608389"	"Branchiootic syndrome 3, MIM# 608389"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SIX1"	""	"15141091, 18330911, 21254961, 17637804, 29500469, 21700001, 24164807"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10887.2"	"2020-11-09"
"GENCC_000111-HGNC_20151-OMIM_605583-HP_0000006-GENCC_100002"	"HGNC:20151"	"SLC17A8"	"MONDO:0011568"	"autosomal dominant nonsyndromic hearing loss 25"	"OMIM:605583"	"Deafness, autosomal dominant 25"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20151"	"SLC17A8"	"OMIM:605583"	"Deafness, autosomal dominant 25, MIM#605583"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC17A8"	""	"18674745, 26797701, 28647561"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.20151"	"2020-11-09"
"GENCC_000111-HGNC_10938-OMIM_249270-HP_0000007-GENCC_100002"	"HGNC:10938"	"SLC19A2"	"MONDO:0009575"	"thiamine-responsive megaloblastic anemia syndrome"	"OMIM:249270"	"Thiamine-responsive megaloblastic anemia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10938"	"SLC19A2"	"OMIM:249270"	"Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC19A2"	""	"10391221, 10978358"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10938"	"2020-11-09"
"GENCC_000111-HGNC_8818-OMIM_600791-HP_0000007-GENCC_100002"	"HGNC:8818"	"SLC26A4"	"MONDO:0010933"	"autosomal recessive nonsyndromic hearing loss 4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8818"	"SLC26A4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC26A4"	""	"9618167, 19204907"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8818"	"2020-11-09"
"GENCC_000111-HGNC_9359-OMIM_613865-HP_0000007-GENCC_100002"	"HGNC:9359"	"SLC26A5"	"MONDO:0013471"	"autosomal recessive nonsyndromic hearing loss 61"	"OMIM:613865"	"?Deafness, autosomal recessive 61"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9359"	"SLC26A5"	"OMIM:613865"	"Deafness, autosomal recessive 61, MIM# 613865"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC26A5"	""	"24164807, 26969326"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9359"	"2020-11-09"
"GENCC_000111-HGNC_16438-OMIM_217400-HP_0000007-GENCC_100002"	"HGNC:16438"	"SLC4A11"	"MONDO:0009015"	"corneal dystrophy-perceptive deafness syndrome"	"OMIM:217400"	"Corneal endothelial dystrophy and perceptive deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16438"	"SLC4A11"	"OMIM:217400"	"Corneal endothelial dystrophy and perceptive deafness, MIM# 217400"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC4A11"	""	"17220209"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16438"	"2020-11-09"
"GENCC_000111-HGNC_30224-OMIM_614707-HP_0000007-GENCC_100002"	"HGNC:30224"	"SLC52A2"	"MONDO:0013867"	"Brown-Vialetto-van Laere syndrome 2"	"OMIM:614707"	"Brown-Vialetto-Van Laere syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30224"	"SLC52A2"	"OMIM:614707"	"Brown-Vialetto-Van Laere syndrome 2, MIM# 614707"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.30224"	"2021-01-21"
"GENCC_000111-HGNC_23503-OMIM_221200-HP_0000007-GENCC_100002"	"HGNC:23503"	"SLITRK6"	"MONDO:0009082"	"high myopia-sensorineural deafness syndrome"	"OMIM:221200"	"Deafness and myopia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23503"	"SLITRK6"	"OMIM:221200"	"Deafness and myopia, MIM#221200"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLITRK6"	""	"23543054, 29551497"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.23503"	"2020-11-09"
"GENCC_000111-HGNC_11122-OMIM_300066-HP_0001417-GENCC_100002"	"HGNC:11122"	"SMPX"	"MONDO:0010238"	"hearing loss, X-linked 4"	"OMIM:300066"	"Deafness, X-linked 4"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11122"	"SMPX"	"OMIM:300066"	"Deafness, X-linked 4, MIM# 300066"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SMPX"	""	"21549342, 21549336, 21893181, 22911656, 28542515"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11122"	"2020-11-09"
"GENCC_000111-HGNC_11190-OMIM_609136-HP_0000006-GENCC_100002"	"HGNC:11190"	"SOX10"	"MONDO:0012198"	"PCWH syndrome"	"OMIM:609136"	"PCWH syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11190"	"SOX10"	"OMIM:609136"	"PCWH syndrome (MIM#609136)"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SOX10"	""	"23643381, 24845202"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11190.1"	"2020-11-09"
"GENCC_000111-HGNC_11190-OMIM_611584-HP_0000006-GENCC_100002"	"HGNC:11190"	"SOX10"	"MONDO:0012698"	"Waardenburg syndrome type 2E"	"OMIM:611584"	"Waardenburg syndrome, type 2E, with or without neurologic involvement"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11190"	"SOX10"	"OMIM:611584"	"Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584)"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SOX10"	""	"23643381, 24845202"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11190.2"	"2020-11-09"
"GENCC_000111-HGNC_11190-OMIM_613266-HP_0000006-GENCC_100002"	"HGNC:11190"	"SOX10"	"MONDO:0013202"	"Waardenburg syndrome type 4C"	"OMIM:613266"	"Waardenburg syndrome, type 4C"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11190"	"SOX10"	"OMIM:613266"	"Waardenburg syndrome, type 4C (MIM#613266)"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SOX10"	""	"23643381, 24845202"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11190.3"	"2020-11-09"
"GENCC_000111-HGNC_18119-OMIM_616577-HP_0000007-GENCC_100002"	"HGNC:18119"	"AFG2A"	"MONDO:0014698"	"microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"	"OMIM:616577"	"Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18119"	"SPATA5"	"OMIM:616577"	"Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SPATA5"	""	"26299366"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18119"	"2020-11-09"
"GENCC_000111-HGNC_14896-OMIM_617519-HP_0000007-GENCC_100002"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"OMIM:617519"	"Neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14896"	"SPTBN4"	"OMIM:617519"	"Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SPTBN4"	""	"29861105, 28540413"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.14896"	"2020-11-09"
"GENCC_000111-HGNC_16035-OMIM_603720-HP_0000007-GENCC_100002"	"HGNC:16035"	"STRC"	"MONDO:0011364"	"autosomal recessive nonsyndromic hearing loss 16"	"OMIM:603720"	"Deafness, autosomal recessive 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16035"	"STRC"	"OMIM:603720"	"Deafness, autosomal recessive 16, MIM# 603720"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/STRC"	""	"11687802, 26011646, 26746617, 20301780"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16035"	"2020-11-09"
"GENCC_000111-HGNC_26703-OMIM_615540-HP_0000007-GENCC_100002"	"HGNC:26703"	"SYNE4"	"MONDO:0014237"	"autosomal recessive nonsyndromic hearing loss 76"	"OMIM:615540"	"Deafness, autosomal recessive 76"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26703"	"SYNE4"	"OMIM:615540"	"Deafness, autosomal recessive 76, MIM# 615540"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SYNE4"	""	"23348741, 28958982"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26703"	"2020-11-09"
"GENCC_000111-HGNC_29203-OMIM_220500-HP_0000007-GENCC_100002"	"HGNC:29203"	"TBC1D24"	"MONDO:0009079"	"DOORS syndrome"	"OMIM:220500"	"DOORS syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29203"	"TBC1D24"	"OMIM:220500"	"DOORS syndrome, MIM#220500"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TBC1D24"	""	"24729539, 24729547, 24387994, 24291220"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.29203.1"	"2020-11-09"
"GENCC_000111-HGNC_11720-OMIM_603629-HP_0000006-GENCC_100002"	"HGNC:11720"	"TECTA"	"MONDO:0011351"	"autosomal recessive nonsyndromic hearing loss 21"	"OMIM:603629"	"Deafness, autosomal recessive 21"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11720"	"TECTA"	"OMIM:603629"	"Deafness, autosomal recessive 21 603629"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TECTA"	""	"22718023, 17136632, 31554319, 21520338"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11720.1"	"2020-11-09"
"GENCC_000111-HGNC_11720-OMIM_601543-HP_0000007-GENCC_100002"	"HGNC:11720"	"TECTA"	"MONDO:0011102"	"autosomal dominant nonsyndromic hearing loss 12"	"OMIM:601543"	"Deafness, autosomal dominant 8/12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11720"	"TECTA"	"OMIM:601543"	"Deafness, autosomal dominant 8/12 601543"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TECTA"	""	"22718023, 17136632, 31554319, 21520338"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11720.2"	"2020-11-09"
"GENCC_000111-HGNC_11817-OMIM_304700-HP_0001417-GENCC_100002"	"HGNC:11817"	"TIMM8A"	"MONDO:0010578"	"deafness dystonia syndrome"	"OMIM:304700"	"Mohr-Tranebjaerg syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11817"	"TIMM8A"	"OMIM:304700"	"Mohr-Tranebjaerg syndrome, MIM# 304700"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TIMM8A"	""	"11803487, 11405816, 32820032"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11817"	"2020-11-09"
"GENCC_000111-HGNC_16513-OMIM_606705-HP_0000007-GENCC_100002"	"HGNC:16513"	"TMC1"	"MONDO:0011708"	"autosomal dominant nonsyndromic hearing loss 36"	"OMIM:606705"	"Deafness, autosomal dominant 36"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16513"	"TMC1"	"OMIM:606705"	"Deafness, autosomal dominant 36, MIM# 606705"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMC1"	""	"11850618, 17250663, 18616530, 24827932, 11850623, 22105175"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16513"	"2020-11-09"
"GENCC_000111-HGNC_16513-OMIM_600974-HP_0000006-GENCC_100002"	"HGNC:16513"	"TMC1"	"MONDO:0010967"	"autosomal recessive nonsyndromic hearing loss 7"	"OMIM:600974"	"Deafness, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16513"	"TMC1"	"OMIM:600974"	"Deafness, autosomal dominant 36, MIM# 606705;Deafness, autosomal recessive 7, MIM# 600974"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMC1"	""	"11850618, 17250663, 18616530, 24827932, 11850623, 22105175"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16513"	"2020-11-09"
"GENCC_000111-HGNC_30800-OMIM_600971-HP_0000007-GENCC_100002"	"HGNC:30800"	"TMIE"	"MONDO:0010965"	"autosomal recessive nonsyndromic hearing loss 6"	"OMIM:600971"	"Deafness, autosomal recessive 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30800"	"TMIE"	"OMIM:600971"	"Deafness, autosomal recessive 6, MIM# 600971"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMIE"	""	"12145746, 19438934, 24416283, 25467981, 25475183, 19934034, 12140191"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.30800"	"2020-11-09"
"GENCC_000111-HGNC_11877-OMIM_601072-HP_0000007-GENCC_100002"	"HGNC:11877"	"TMPRSS3"	"MONDO:0010987"	"autosomal recessive nonsyndromic hearing loss 8"	"OMIM:601072"	"Deafness, autosomal recessive 8/10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11877"	"TMPRSS3"	"OMIM:601072"	"Deafness, autosomal recessive 8/10, MIM#601072"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMPRSS3"	""	"21786053, 17551081"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11877"	"2020-11-09"
"GENCC_000111-HGNC_26894-OMIM_613307-HP_0000007-GENCC_100002"	"HGNC:26894"	"TPRN"	"MONDO:0013215"	"autosomal recessive nonsyndromic hearing loss 79"	"OMIM:613307"	"Deafness, autosomal recessive 79"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26894"	"TPRN"	"OMIM:613307"	"Deafness, autosomal recessive 79, MIM# 613307"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TPRN"	""	"19603065, 20170898, 20170899, 23340767, 25129962, 20170899, 20170899, 27693694, 24285636"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26894"	"2020-11-09"
"GENCC_000111-HGNC_17009-OMIM_609823-HP_0000007-GENCC_100002"	"HGNC:17009"	"TRIOBP"	"MONDO:0012355"	"autosomal recessive nonsyndromic hearing loss 28"	"OMIM:609823"	"Deafness, autosomal recessive 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17009"	"TRIOBP"	"OMIM:609823"	"Deafness, autosomal recessive 28, MIM# 609823"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TRIOBP"	""	"16385458, 16385457, 23226338, 27014650, 24853665, 27344577, 20510926"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.17009"	"2020-11-09"
"GENCC_000111-HGNC_20771-OMIM_617879-HP_0000006-GENCC_100002"	"HGNC:20771"	"TUBB4B"	"MONDO:0060650"	"Leber congenital amaurosis with early-onset deafness"	"OMIM:617879"	"Leber congenital amaurosis with early-onset deafness"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20771"	"TUBB4B"	"OMIM:617879"	"Leber congenital amaurosis with early-onset deafness, MIM# 617879"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TUBB4B"	""	"29198720"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.20771"	"2020-11-09"
"GENCC_000111-HGNC_12597-OMIM_276904-HP_0000007-GENCC_100002"	"HGNC:12597"	"USH1C"	"MONDO:0010171"	"Usher syndrome type 1C"	"OMIM:276904"	"Usher syndrome, type 1C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12597"	"USH1C"	"OMIM:276904"	"Usher syndrome, type 1C, MIM# 276904"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/USH1C"	""	"10973247, 10973248, 11239869, 21203349, 12107438"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12597.1"	"2020-11-09"
"GENCC_000111-HGNC_12597-OMIM_602092-HP_0000007-GENCC_100004"	"HGNC:12597"	"USH1C"	"MONDO:0011192"	"autosomal recessive nonsyndromic hearing loss 18A"	"OMIM:602092"	"Deafness, autosomal recessive 18A"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12597"	"USH1C"	"OMIM:602092"	"Deafness, autosomal recessive 18A, MIM# 602092"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/USH1C"	""	"10973247, 10973248, 11239869, 21203349, 12107438"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12597.2"	"2020-11-09"
"GENCC_000111-HGNC_16356-OMIM_606943-HP_0000007-GENCC_100002"	"HGNC:16356"	"USH1G"	"MONDO:0011748"	"Usher syndrome type 1G"	"OMIM:606943"	"Usher syndrome, type 1G"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16356"	"USH1G"	"OMIM:606943"	"Usher syndrome, type 1G, MIM# 606943"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/USH1G"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16356"	"2020-11-09"
"GENCC_000111-HGNC_12601-OMIM_276901-HP_0000007-GENCC_100002"	"HGNC:12601"	"USH2A"	"MONDO:0010169"	"Usher syndrome type 2A"	"OMIM:276901"	"{Retinal disease in Usher syndrome type IIA, modifier of}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12601"	"USH2A"	"OMIM:276901"	"Usher syndrome, type 2A, MIM# 276901"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/USH2A"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12601"	"2020-11-09"
"GENCC_000111-HGNC_12762-OMIM_222300-HP_0000007-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0009101"	"Wolfram syndrome 1"	"OMIM:222300"	"Wolfram syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12762"	"WFS1"	"OMIM:222300"	"Wolfram syndrome 1 222300"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WFS1"	""	"11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27395765, 28802351, 29529044, 12754709, 16151413, 21446023, 21602428"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12762.2"	"2020-11-09"
"GENCC_000111-HGNC_12762-OMIM_614296-HP_0000006-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0013673"	"Wolfram-like syndrome"	"OMIM:614296"	"Wolfram-like syndrome, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12762"	"WFS1"	"OMIM:614296"	"Wolfram-like syndrome, autosomal dominant, MIM# 614296"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WFS1"	""	"11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27395765, 28802351, 29529044, 12754709, 16151413, 21446023, 21602428"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12762.3"	"2020-11-09"
"GENCC_000111-HGNC_16361-OMIM_611383-HP_0000007-GENCC_100002"	"HGNC:16361"	"WHRN"	"MONDO:0012662"	"Usher syndrome type 2D"	"OMIM:611383"	"Usher syndrome, type 2D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16361"	"WHRN"	"OMIM:611383"	"Usher syndrome, type 2D, MIM# 611383"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WHRN"	""	"17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16361.1"	"2020-11-09"
"GENCC_000111-HGNC_16361-OMIM_607084-HP_0000007-GENCC_100003"	"HGNC:16361"	"WHRN"	"MONDO:0011767"	"autosomal recessive nonsyndromic hearing loss 31"	"OMIM:607084"	"Deafness, autosomal recessive 31"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16361"	"WHRN"	"OMIM:607084"	"Deafness, autosomal recessive 31, MIM# 607084"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WHRN"	""	"17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.16361"	"2020-11-09"
"GENCC_000111-HGNC_51-OMIM_618915-HP_0000006-GENCC_100003"	"HGNC:51"	"ABCC1"	"MONDO:0030058"	"hearing loss, autosomal dominant 77"	"OMIM:618915"	"?Deafness, autosomal dominant 77"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:51"	"ABCC1"	"OMIM:618915"	"Nonsyndromic hearing loss;Deafness-77, autosomal dominant (DFNA77), MIM#618915"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ABCC1"	""	"31273342"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.51"	"2020-11-09"
"GENCC_000111-HGNC_1391-OMIM_614896-HP_0000007-GENCC_100003"	"HGNC:1391"	"CACNA1D"	"MONDO:0013960"	"sinoatrial node dysfunction and deafness"	"OMIM:614896"	"Sinoatrial node dysfunction and deafness"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1391"	"CACNA1D"	"OMIM:614896"	"Sinoatrial node dysfunction and deafness, MIM# 614896"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CACNA1D"	""	"21131953, 15357422, 22678062"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1391"	"2020-11-09"
"GENCC_000111-HGNC_1630-OMIM_609057-HP_0000007-GENCC_100002"	"HGNC:1630"	"CD151"	"MONDO:0012190"	"epidermolysis bullosa simplex 7, with nephropathy and deafness"	"OMIM:609057"	"Epidermolysis bullosa simplex 7, with nephropathy and deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1630"	"CD151"	"OMIM:609057"	"Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"15265795, 29138120"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.1630"	"2021-03-09"
"GENCC_000111-HGNC_13517-OMIM_616042-HP_0000007-GENCC_100003"	"HGNC:13517"	"CLIC5"	"MONDO:0014469"	"autosomal recessive nonsyndromic hearing loss 103"	"OMIM:616042"	"?Deafness, autosomal recessive 103"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13517"	"CLIC5"	"OMIM:616042"	"Deafness, autosomal recessive 103, MIM# 616042"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CLIC5"	""	"24781754, 17021174"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13517"	"2020-11-09"
"GENCC_000111-HGNC_2418-OMIM_616357-HP_0000006-GENCC_100003"	"HGNC:2418"	"CRYM"	"MONDO:0014603"	"autosomal dominant nonsyndromic hearing loss 40"	"OMIM:616357"	"Deafness, autosomal dominant 40"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2418"	"CRYM"	"OMIM:616357"	"Deafness, autosomal dominant 40, MIM# 616357"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CRYM"	""	"12471561, 16740909, 18448257, 24676347, 26915689"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2418"	"2020-11-09"
"GENCC_000111-HGNC_21528-OMIM_614152-HP_0000006-GENCC_100003"	"HGNC:21528"	"DIABLO"	"MONDO:0013593"	"autosomal dominant nonsyndromic hearing loss 64"	"OMIM:614152"	"Deafness, autosomal dominant 64"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21528"	"DIABLO"	"OMIM:614152"	"Deafness, autosomal dominant 64, MIM# 614152"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DIABLO"	""	"21722859, 10929711, 26969326"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.21528"	"2020-11-09"
"GENCC_000111-HGNC_15480-OMIM_609129-HP_0000006-GENCC_100003"	"HGNC:15480"	"DIAPH3"	"MONDO:0012196"	"autosomal dominant auditory neuropathy 1"	"OMIM:609129"	"Auditory neuropathy, autosomal dominant 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15480"	"DIAPH3"	"OMIM:609129"	"Auditory neuropathy, autosomal dominant, 1, MIM#609129"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DIAPH3"	""	"23441200, 20624953, 27658576"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.15480"	"2020-11-09"
"GENCC_000111-HGNC_3054-OMIM_605594-HP_0000006-GENCC_100003"	"HGNC:3054"	"DSPP"	"MONDO:0011571"	"deafness, autosomal dominant 39, with dentinogenesis imperfecta 1"	"OMIM:605594"	"Deafness, autosomal dominant 39, with dentinogenesis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3054"	"DSPP"	"OMIM:605594"	"Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DSPP"	""	"29741433, 11175790"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3054"	"2020-11-09"
"GENCC_000111-HGNC_26158-OMIM_615429-HP_0000007-GENCC_100003"	"HGNC:26158"	"ELMOD3"	"MONDO:0014182"	"autosomal recessive nonsyndromic hearing loss 88"	"OMIM:615429"	"?Deafness, autosomal recessive 88"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26158"	"ELMOD3"	"OMIM:615429"	"Deafness, autosomal recessive 88, MIM# 615429"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ELMOD3"	""	"24039609, 31628468, 30284680, 29713870"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26158.1"	"2020-11-09"
"GENCC_000111-HGNC_3424-OMIM_617565-HP_0000007-GENCC_100003"	"HGNC:3424"	"ERAL1"	"MONDO:0033047"	"Perrault syndrome 6"	"OMIM:617565"	"Perrault syndrome 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3424"	"ERAL1"	"OMIM:617565"	"Perrault syndrome 6, MIM# 617565"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ERAL1"	""	"28449065"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.3424"	"2020-11-09"
"GENCC_000111-HGNC_25966-OMIM_618013-HP_0000007-GENCC_100003"	"HGNC:25966"	"ESRP1"	"MONDO:0033202"	"hearing loss, autosomal recessive 109"	"OMIM:618013"	"?Deafness, autosomal recessive 109"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25966"	"ESRP1"	"OMIM:618013"	"Deafness, autosomal recessive 109, MIM# 618013"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ESRP1"	""	"29107558"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.25966"	"2020-11-09"
"GENCC_000111-HGNC_4283-OMIM_302800-HP_0001417-GENCC_100003"	"HGNC:4283"	"GJB1"	"MONDO:0010549"	"Charcot-Marie-Tooth disease X-linked dominant 1"	"OMIM:302800"	"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4283"	"GJB1"	"OMIM:302800"	"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GJB1"	""	""	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4283"	"2020-11-09"
"GENCC_000111-HGNC_33862-OMIM_615837-HP_0000007-GENCC_100003"	"HGNC:33862"	"GRXCR2"	"MONDO:0014363"	"autosomal recessive nonsyndromic hearing loss 101"	"OMIM:615837"	"?Deafness, autosomal recessive 101"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:33862"	"GRXCR2"	"OMIM:615837"	"Deafness, autosomal recessive 101, MIM# 615837"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GRXCR2"	""	"24619944"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.33862"	"2020-11-09"
"GENCC_000111-HGNC_6343-OMIM_616697-HP_0000006-GENCC_100003"	"HGNC:6343"	"KITLG"	"MONDO:0014738"	"autosomal dominant nonsyndromic hearing loss 69"	"OMIM:616697"	"Deafness, autosomal dominant 69, unilateral or asymmetric"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6343"	"KITLG"	"OMIM:616697"	"Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/KITLG"	""	"26522471"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6343"	"2020-11-09"
"GENCC_000111-HGNC_31648-OMIM_613074-HP_0000006-GENCC_100003"	"HGNC:31648"	"MIR96"	"MONDO:0013114"	"autosomal dominant nonsyndromic hearing loss 50"	"OMIM:613074"	"Deafness, autosomal dominant 50"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:31648"	"MIR96"	"OMIM:613074"	"Deafness, autosomal dominant 50, MIM# 613074"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MIR96"	""	"19363479, 29325119"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.31648"	"2020-11-09"
"GENCC_000111-HGNC_8616-OMIM_120330-HP_0000006-GENCC_100003"	"HGNC:8616"	"PAX2"	"MONDO:0007352"	"renal coloboma syndrome"	"OMIM:120330"	"Papillorenal syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8616"	"PAX2"	"OMIM:120330"	"Papillorenal syndrome, MIM# 120330"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PAX2"	""	"16971658, 8588587"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.8616"	"2020-11-09"
"GENCC_000111-HGNC_9118-OMIM_118300-HP_0000006-GENCC_100003"	"HGNC:9118"	"PMP22"	"MONDO:0007311"	"Charcot-Marie-Tooth disease type 1E"	"OMIM:118300"	"Charcot-Marie-Tooth disease, type 1E"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9118"	"PMP22"	"OMIM:118300"	"Charcot-Marie-Tooth disease, type 1E 118300"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PMP22"	""	"8355122, 10330345, 12578939"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.9118"	"2020-11-09"
"GENCC_000111-HGNC_29035-OMIM_618422-HP_0000007-GENCC_100003"	"HGNC:29035"	"PPIP5K2"	"MONDO:0032740"	"hearing loss, autosomal recessive 100"	"OMIM:618422"	"Deafness, autosomal recessive 100"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29035"	"PPIP5K2"	"OMIM:618422"	"Deafness, autosomal recessive 100, MIM# 618422"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/PPIP5K2"	""	"29590114"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.29035"	"2020-11-09"
"GENCC_000111-HGNC_13872-OMIM_616515-HP_0000007-GENCC_100003"	"HGNC:13872"	"RIPOR2"	"MONDO:0014675"	"autosomal recessive nonsyndromic hearing loss 104"	"OMIM:616515"	"?Deafness, autosomal recessive 104"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13872"	"RIPOR2"	"OMIM:616515"	"Deafness, autosomal recessive 104, MIM# 616515"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/RIPOR2"	""	"24958875, 32631815"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13872.1"	"2020-11-09"
"GENCC_000111-HGNC_10256-OMIM_617654-HP_0000007-GENCC_100003"	"HGNC:10256"	"ROR1"	"MONDO:0033200"	"hearing loss, autosomal recessive 108"	"OMIM:617654"	"?Deafness, autosomal recessive 108"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10256"	"ROR1"	"OMIM:617654"	"Deafness, autosomal recessive 108, MIM# 617654"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ROR1"	""	"27162350"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10256"	"2020-11-09"
"GENCC_000111-HGNC_11071-OMIM_616291-HP_0000007-GENCC_100003"	"HGNC:11071"	"SLC9A1"	"MONDO:0014572"	"Lichtenstein-Knorr syndrome"	"OMIM:616291"	"Lichtenstein-Knorr syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11071"	"SLC9A1"	"OMIM:616291"	"Lichtenstein-Knorr syndrome, MIM# 616291"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SLC9A1"	""	"25205112, 30018422, 25760855"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11071"	"2020-11-09"
"GENCC_000111-HGNC_11094-OMIM_608890-HP_0000007-GENCC_100003"	"HGNC:11094"	"SNAI2"	"MONDO:0012144"	"Waardenburg syndrome type 2D"	"OMIM:608890"	"OMIM:608890"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11094"	"SNAI2"	"OMIM:608890"	"Waardenburg syndrome, type 2D, MIM# 608890"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SNAI2"	""	"12444107, 30936914"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11094"	"2020-11-09"
"GENCC_000111-HGNC_11195-OMIM_206900-HP_0000006-GENCC_100003"	"HGNC:11195"	"SOX2"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"OMIM:206900"	"Microphthalmia, syndromic 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11195"	"SOX2"	"OMIM:206900"	"Anopthalmia and sensorineural hearing loss;Microphthalmia, syndromic 3 206900"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SOX2"	""	"30262714, 16932809, 16145681"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.11195"	"2020-11-09"
"GENCC_000111-HGNC_26992-OMIM_618457-HP_0000007-GENCC_100003"	"HGNC:26992"	"SPNS2"	"MONDO:0032762"	"hearing loss, autosomal recessive 115"	"OMIM:618457"	"?Deafness, autosomal recessive 115"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26992"	"SPNS2"	"OMIM:618457"	"Deafness, autosomal recessive 115, MIM# 618457"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SPNS2"	""	"30973865, 25356849"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26992"	"2020-11-09"
"GENCC_000111-HGNC_26991-OMIM_618481-HP_0000007-GENCC_100003"	"HGNC:26991"	"TMEM132E"	"MONDO:0032776"	"hearing loss, autosomal recessive 99"	"OMIM:618481"	"Deafness, autosomal recessive 99"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26991"	"TMEM132E"	"OMIM:618481"	"Deafness, autosomal recessive 99, MIM# 618481"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TMEM132E"	""	"25331638"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.26991"	"2020-11-09"
"GENCC_000111-HGNC_5318-OMIM_615629-HP_0000006-GENCC_100003"	"HGNC:5318"	"TNC"	"MONDO:0014283"	"autosomal dominant nonsyndromic hearing loss 56"	"OMIM:615629"	"Deafness, autosomal dominant 56"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5318"	"TNC"	"OMIM:615629"	"Deafness, autosomal dominant 56, MIM# 615629"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TNC"	""	"23936043"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.5318"	"2020-11-09"
"GENCC_000111-HGNC_12738-OMIM_617639-HP_0000007-GENCC_100003"	"HGNC:12738"	"WBP2"	"MONDO:0033199"	"hearing loss, autosomal recessive 107"	"OMIM:617639"	"Deafness, autosomal recessive 107"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12738"	"WBP2"	"OMIM:617639"	"Deafness, autosomal recessive 107, MIM# 617639"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/WBP2"	""	"26881968"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.12738"	"2020-11-09"
"GENCC_000111-HGNC_232-OMIM_610154-HP_0000007-GENCC_100004"	"HGNC:232"	"ADCY1"	"MONDO:0012421"	"autosomal recessive nonsyndromic hearing loss 44"	"OMIM:610154"	"?Deafness, autosomal recessive 44"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:232"	"ADCY1"	"OMIM:610154"	"Deafness, autosomal recessive 44, MIM# 610154"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/ADCY1"	""	"24482543"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.232"	"2020-11-09"
"GENCC_000111-HGNC_13652-OMIM_618257-HP_0000007-GENCC_100004"	"HGNC:13652"	"BDP1"	"MONDO:0032639"	"hearing loss, autosomal recessive 112"	"OMIM:618257"	"?Deafness, autosomal recessive 112"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13652"	"BDP1"	"OMIM:618257"	"Deafness, autosomal recessive 112, MIM#618257"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/BDP1"	""	"24312468, 25060281"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.13652"	"2020-11-09"
"GENCC_000111-HGNC_1632-OMIM_616969-HP_0000006-GENCC_100004"	"HGNC:1632"	"CD164"	"MONDO:0014854"	"autosomal dominant nonsyndromic hearing loss 66"	"OMIM:616969"	"?Deafness, autosomal dominant 66"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1632"	"CD164"	"OMIM:616969"	"Deafness, autosomal dominant 66, MIM# 616969"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CD164"	""	"26197441"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1632"	"2020-11-09"
"GENCC_000111-HGNC_24546-OMIM_615654-HP_0000006-GENCC_100004"	"HGNC:24546"	"CNRIP1"	"MONDO:0014293"	"autosomal dominant nonsyndromic hearing loss 58"	"OMIM:615654"	"Deafness, autosomal dominant 58"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24546"	"CNRIP1"	"OMIM:615654"	"Deafness, autosomal dominant 58 MIM#615654"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/CNRIP1"	""	"32337552, 19159392"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.24546"	"2020-11-09"
"GENCC_000111-HGNC_2208-OMIM_300914-HP_0001417-GENCC_100004"	"HGNC:2208"	"COL4A6"	"MONDO:0010484"	"hearing loss, X-linked 6"	"OMIM:300914"	"?Deafness, X-linked 6"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2208"	"COL4A6"	"OMIM:300914"	"Deafness, X-linked 6, MIM# 300914"	"HP:0001417"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/COL4A6"	""	"23714752"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.2208"	"2020-11-09"
"GENCC_000111-HGNC_18141-OMIM_610212-HP_0000007-GENCC_100004"	"HGNC:18141"	"DCDC2"	"MONDO:0012442"	"autosomal recessive nonsyndromic hearing loss 66"	"OMIM:610212"	"?Deafness, autosomal recessive 66"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18141"	"DCDC2"	"OMIM:610212"	"Deafness, autosomal recessive 66, MIM# 610212"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/DCDC2"	""	"25601850, 22558177, 25130614"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18141"	"2020-11-09"
"GENCC_000111-HGNC_4285-OMIM_612644-HP_0000006-GENCC_100004"	"HGNC:4285"	"GJB3"	"MONDO:0012976"	"autosomal dominant nonsyndromic hearing loss 2B"	"OMIM:612644"	"Deafness, autosomal dominant 2B, with or without peripheral neuropathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4285"	"GJB3"	"OMIM:612644"	"Deafness, autosomal dominant 2B, MIM# 612644"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GJB3"	""	"9843210"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4285"	"2020-11-09"
"GENCC_000111-HGNC_4562-OMIM_618456-HP_0000007-GENCC_100004"	"HGNC:4562"	"GRAP"	"MONDO:0032761"	"hearing loss, autosomal recessive 114"	"OMIM:618456"	"Deafness, autosomal recessive 114"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4562"	"GRAP"	"OMIM:618456"	"Deafness, autosomal recessive 114, MIM# 618456"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/GRAP"	""	"30610177"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.4562"	"2020-11-09"
"GENCC_000111-HGNC_6944-OMIM_616968-HP_0000006-GENCC_100004"	"HGNC:6944"	"MCM2"	"MONDO:0014853"	"autosomal dominant nonsyndromic hearing loss 70"	"OMIM:616968"	"?Deafness, autosomal dominant 70"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6944"	"MCM2"	"OMIM:616968"	"Deafness, autosomal dominant 70, MIM# 616968"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MCM2"	""	"26196677"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.6944"	"2020-11-09"
"GENCC_000111-HGNC_7029-OMIM_616705-HP_0000007-GENCC_100004"	"HGNC:7029"	"MET"	"MONDO:0014739"	"autosomal recessive nonsyndromic hearing loss 97"	"OMIM:616705"	"?Deafness, autosomal recessive 97"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7029"	"MET"	"OMIM:616705"	"Deafness, autosomal recessive 97, MIM# 616705"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/MET"	""	"25941349, 31801140"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.7029"	"2020-11-09"
"GENCC_000111-HGNC_10891-OMIM_610896-HP_0000006-GENCC_100004"	"HGNC:10891"	"SIX5"	"MONDO:0012575"	"branchiootorenal syndrome 2"	"OMIM:610896"	"Branchiootorenal syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10891"	"SIX5"	"OMIM:610896"	"Branchiootorenal syndrome 2, MIM#610896"	"HP:0000006"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/SIX5"	""	"17357085, 24429398, 21280147, 14704431, 17357085, 11950062"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.10891"	"2020-11-09"
"GENCC_000111-HGNC_18502-OMIM_400047-HP_0001450-GENCC_100004"	"HGNC:18502"	"TBL1Y"	"MONDO:0027048"	"deafness, Y-linked 2"	"OMIM:400047"	"?Deafness, Y-linked 2"	"GENCC:100004"	"Limited"	"HP:0001450"	"Y-linked inheritance"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18502"	"TBL1Y"	"OMIM:400047"	"Deafness, Y-linked 2, MIM# 400047 "	"HP:0001450"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TBL1Y"	""	"30341416"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.18502"	"2020-11-09"
"GENCC_000111-HGNC_1268-OMIM_614861-HP_0000007-GENCC_100005"	"HGNC:1268"	"TSPEAR"	"MONDO:0013929"	"autosomal recessive nonsyndromic hearing loss 98"	"OMIM:614861"	"?Deafness, autosomal recessive 98"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1268"	"TSPEAR"	"OMIM:614861"	"Deafness, autosomal recessive 98, MIM#614861"	"HP:0000007"	""	"GENCC:000111"	"PanelApp Australia"	"GENCC:100005"	"Disputed"	"2020-10-09 00:00:00"	"https://panelapp.agha.umccr.org/panels/209/gene/TSPEAR"	""	"22678063, 26969326"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.209.1268"	"2020-11-09"
"GENCC_000111-HGNC_18576-OMIM_615872-HP_0000007-GENCC_100002"	"HGNC:18576"	"CCNO"	"MONDO:0014378"	"primary ciliary dyskinesia 29"	"OMIM:615872"	"Ciliary dyskinesia, primary, 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18576"	"CCNO"	"OMIM:615872"	"Ciliary dyskinesia, primary, 29, MIM# 615872"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"24747639, 31765523, 28801648"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.18576"	"2020-11-06"
"GENCC_000111-HGNC_2940-OMIM_617577-HP_0000007-GENCC_100003"	"HGNC:2940"	"DNAH1"	"MONDO:0033204"	"ciliary dyskinesia, primary, 37"	"OMIM:617577"	"Ciliary dyskinesia, primary, 37"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2940"	"DNAH1"	"OMIM:617577"	"Ciliary dyskinesia, primary, 37 617577"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"31507630, 31765523, 25927852, 24360805"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.2940"	"2020-11-06"
"GENCC_000111-HGNC_2942-OMIM_611884-HP_0000007-GENCC_100002"	"HGNC:2942"	"DNAH11"	"MONDO:0012748"	"primary ciliary dyskinesia 7"	"OMIM:611884"	"Ciliary dyskinesia, primary, 7, with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2942"	"DNAH11"	"OMIM:611884"	"Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"12142464, 18022865, 22102620, 32633470, 31879361, 31765523, 31040315"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.2942"	"2020-11-06"
"GENCC_000111-HGNC_2950-OMIM_608644-HP_0000007-GENCC_100002"	"HGNC:2950"	"DNAH5"	"MONDO:0012085"	"primary ciliary dyskinesia 3"	"OMIM:608644"	"Ciliary dyskinesia, primary, 3, with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2950"	"DNAH5"	"OMIM:608644"	"Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"16627867"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.2950"	"2020-11-06"
"GENCC_000111-HGNC_2954-OMIM_244400-HP_0000007-GENCC_100002"	"HGNC:2954"	"DNAI1"	"MONDO:0009484"	"primary ciliary dyskinesia 1"	"OMIM:244400"	"Ciliary dyskinesia, primary, 1, with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2954"	"DNAI1"	"OMIM:244400"	"Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"10577904, 11231901, 32502479, 31765523, 30622330"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.2954"	"2020-11-06"
"GENCC_000111-HGNC_18744-OMIM_612444-HP_0000007-GENCC_100002"	"HGNC:18744"	"DNAI2"	"MONDO:0012906"	"primary ciliary dyskinesia 9"	"OMIM:612444"	"Ciliary dyskinesia, primary, 9, with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18744"	"DNAI2"	"OMIM:612444"	"Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"18950741, 23261302"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.18744"	"2020-11-06"
"GENCC_000111-HGNC_30718-OMIM_617091-HP_0000007-GENCC_100003"	"HGNC:30718"	"DNAJB13"	"MONDO:0014909"	"primary ciliary dyskinesia 34"	"OMIM:617091"	"Ciliary dyskinesia, primary, 34"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30718"	"DNAJB13"	"OMIM:617091"	"Ciliary dyskinesia, primary, 34 617091"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"27486783"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.30718"	"2020-11-06"
"GENCC_000111-HGNC_23247-OMIM_614017-HP_0000007-GENCC_100003"	"HGNC:23247"	"DNAL1"	"MONDO:0013525"	"primary ciliary dyskinesia 16"	"OMIM:614017"	"Ciliary dyskinesia, primary, 16"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23247"	"DNAL1"	"OMIM:614017"	"Ciliary dyskinesia, primary, 16, MIM# 614017"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"21496787"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.23247"	"2020-11-06"
"GENCC_000111-HGNC_24245-OMIM_615294-HP_0000007-GENCC_100002"	"HGNC:24245"	"DRC1"	"MONDO:0014123"	"primary ciliary dyskinesia 21"	"OMIM:615294"	"Ciliary dyskinesia, primary, 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24245"	"DRC1"	"OMIM:615294"	"Ciliary dyskinesia, primary, 21, MIM# 615294"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"31960620"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.24245"	"2020-11-06"
"GENCC_000111-HGNC_3816-OMIM_618699-HP_0000006-GENCC_100002"	"HGNC:3816"	"FOXJ1"	"MONDO:0032874"	"ciliary dyskinesia, primary, 43"	"OMIM:618699"	"Ciliary dyskinesia, primary, 43"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3816"	"FOXJ1"	"OMIM:618699"	"Ciliary dyskinesia, primary, 43, MIM#618699"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"31630787"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.3816"	"2020-11-06"
"GENCC_000111-HGNC_24846-OMIM_618449-HP_0000007-GENCC_100003"	"HGNC:24846"	"GAS2L2"	"MONDO:0032757"	"ciliary dyskinesia, primary, 41"	"OMIM:618449"	"?Ciliary dyskinesia, primary, 41"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24846"	"GAS2L2"	"OMIM:618449"	"Ciliary dyskinesia, primary, 41 (MIM # 618449)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"30665704"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.24846"	"2020-11-06"
"GENCC_000111-HGNC_4166-OMIM_616726-HP_0000007-GENCC_100002"	"HGNC:4166"	"GAS8"	"MONDO:0014750"	"primary ciliary dyskinesia 33"	"OMIM:616726"	"Ciliary dyskinesia, primary, 33"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4166"	"GAS8"	"OMIM:616726"	"Ciliary dyskinesia, primary, 33, mIM# 616726"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"26387594, 27120127"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.4166"	"2020-11-06"
"GENCC_000111-HGNC_19368-OMIM_608647-HP_0000007-GENCC_100002"	"HGNC:19368"	"HYDIN"	"MONDO:0012088"	"primary ciliary dyskinesia 5"	"OMIM:608647"	"Ciliary dyskinesia, primary, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:19368"	"HYDIN"	"OMIM:608647"	"Ciliary dyskinesia, primary, 5 (MIM#608647)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"23022101, 23849777, 28441829, 31116566"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.19368"	"2020-11-06"
"GENCC_000111-HGNC_40050-OMIM_618695-HP_0000007-GENCC_100002"	"HGNC:40050"	"MCIDAS"	"MONDO:0032872"	"ciliary dyskinesia, primary, 42"	"OMIM:618695"	"Ciliary dyskinesia, primary, 42"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:40050"	"MCIDAS"	"OMIM:618695"	"Ciliary dyskinesia, primary, 42 (MIM#618695)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"25048963"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.40050"	"2020-11-06"
"GENCC_000111-HGNC_12371-OMIM_615481-HP_0000007-GENCC_100002"	"HGNC:12371"	"RSPH1"	"MONDO:0014202"	"primary ciliary dyskinesia 24"	"OMIM:615481"	"Ciliary dyskinesia, primary, 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12371"	"RSPH1"	"OMIM:615481"	"Ciliary dyskinesia, primary, 24 (MIM#615481)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"23993197"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.12371"	"2020-11-06"
"GENCC_000111-HGNC_21054-OMIM_616481-HP_0000007-GENCC_100002"	"HGNC:21054"	"RSPH3"	"MONDO:0014657"	"primary ciliary dyskinesia 32"	"OMIM:616481"	"Ciliary dyskinesia, primary, 32"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21054"	"RSPH3"	"OMIM:616481"	"Ciliary dyskinesia, primary, 32 (MIM#616481)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"26073779"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.21054"	"2020-11-06"
"GENCC_000111-HGNC_21558-OMIM_612649-HP_0000007-GENCC_100002"	"HGNC:21558"	"RSPH4A"	"MONDO:0012978"	"primary ciliary dyskinesia 11"	"OMIM:612649"	"Ciliary dyskinesia, primary, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21558"	"RSPH4A"	"OMIM:612649"	"Ciliary dyskinesia, primary, 11 (MIM#612649)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"25789548, 22448264"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.21558"	"2020-11-06"
"GENCC_000111-HGNC_21057-OMIM_612650-HP_0000007-GENCC_100002"	"HGNC:21057"	"RSPH9"	"MONDO:0012979"	"primary ciliary dyskinesia 12"	"OMIM:612650"	"Ciliary dyskinesia, primary, 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21057"	"RSPH9"	"OMIM:612650"	"Ciliary dyskinesia, primary, 12 (MIM#612650)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"25789548, 31285900"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.21057"	"2020-11-06"
"GENCC_000111-HGNC_10599-OMIM_613021-HP_0000006-GENCC_100002"	"HGNC:10599"	"SCNN1A"	"MONDO:0013087"	"bronchiectasis with or without elevated sweat chloride 2"	"OMIM:613021"	"Bronchiectasis with or without elevated sweat chloride 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10599"	"SCNN1A"	"OMIM:613021"	"Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"22207244, 19017867, 19462466"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.10599"	"2020-11-06"
"GENCC_000111-HGNC_10600-OMIM_211400-HP_0000006-GENCC_100002"	"HGNC:10600"	"SCNN1B"	"MONDO:0008887"	"bronchiectasis with or without elevated sweat chloride 1"	"OMIM:211400"	"Bronchiectasis with or without elevated sweat chloride 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10600"	"SCNN1B"	"OMIM:211400"	"Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"22207244, 16207733, 18507830"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.10600"	"2020-11-06"
"GENCC_000111-HGNC_10602-OMIM_613071-HP_0000006-GENCC_100002"	"HGNC:10602"	"SCNN1G"	"MONDO:0013112"	"bronchiectasis with or without elevated sweat chloride 3"	"OMIM:613071"	"Bronchiectasis with or without elevated sweat chloride 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10602"	"SCNN1G"	"OMIM:613071"	"Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.10602"	"2020-11-06"
"GENCC_000111-HGNC_26293-OMIM_618751-HP_0000007-GENCC_100003"	"HGNC:26293"	"SPEF2"	"MONDO:0032898"	"spermatogenic failure 43"	"OMIM:618751"	"Spermatogenic failure 43"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26293"	"SPEF2"	"OMIM:618751"	"Primary ciliary dyskinesia-like phenotype"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"31151990, 31278745, 31048344, 31942643"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.26293"	"2020-11-06"
"GENCC_000111-HGNC_23700-OMIM_618801-HP_0000007-GENCC_100002"	"HGNC:23700"	"TTC12"	"MONDO:0032924"	"ciliary dyskinesia, primary, 45"	"OMIM:618801"	"Ciliary dyskinesia, primary, 45"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23700"	"TTC12"	"OMIM:618801"	"Ciliary dyskinesia, primary, 45, MIM#	618801"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/82/"	""	"31978331"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.82.23700"	"2020-11-06"
"GENCC_000111-HGNC_76-OMIM_617602-HP_0000006-GENCC_100002"	"HGNC:76"	"ABL1"	"MONDO:0060532"	"congenital heart defects and skeletal malformations syndrome"	"OMIM:617602"	"Congenital heart defects and skeletal malformations syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:76"	"ABL1"	"OMIM:617602"	"Congenital heart defects and skeletal malformations syndrome (MIM# 617602)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 28288113"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.76"	"2020-11-09"
"GENCC_000111-HGNC_130-OMIM_611788-HP_0000006-GENCC_100002"	"HGNC:130"	"ACTA2"	"MONDO:0012730"	"aortic aneurysm, familial thoracic 6"	"OMIM:611788"	"Aortic aneurysm, familial thoracic 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:130"	"ACTA2"	"OMIM:611788"	"Aortic aneurysm, familial thoracic 6, MIM# 611788"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30724374"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.130"	"2020-11-09"
"GENCC_000111-HGNC_218-OMIM_225410-HP_0000007-GENCC_100002"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"OMIM:225410"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:218"	"ADAMTS2"	"OMIM:225410"	"Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 26765342, 28306229"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.218"	"2020-11-09"
"GENCC_000111-HGNC_303-OMIM_618000-HP_0000007-GENCC_100002"	"HGNC:303"	"AEBP1"	"MONDO:0054813"	"Ehlers-Danlos syndrome, classic-like, 2"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:303"	"AEBP1"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"29606302, 30668708, 30548383, 30759870"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.303"	"2020-11-09"
"GENCC_000111-HGNC_18481-OMIM_219200-HP_0000007-GENCC_100002"	"HGNC:18481"	"ATP6V0A2"	"MONDO:0009054"	"autosomal recessive cutis laxa type 2, classic type"	"OMIM:219200"	"Cutis laxa, autosomal recessive, type IIA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18481"	"ATP6V0A2"	"OMIM:219200"	"Cutis laxa, autosomal recessive, type IIA (MIM# 219200)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"23963297"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.18481"	"2020-11-09"
"GENCC_000111-HGNC_851-OMIM_617403-HP_0000007-GENCC_100003"	"HGNC:851"	"ATP6V1A"	"MONDO:0027451"	"autosomal recessive cutis laxa type 2D"	"OMIM:617403"	"Cutis laxa, autosomal recessive, type IID"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:851"	"ATP6V1A"	"OMIM:617403"	"Cutis laxa, autosomal recessive, type IID (MIM# 617403)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28065471"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.851"	"2020-11-09"
"GENCC_000111-HGNC_857-OMIM_617402-HP_0000007-GENCC_100002"	"HGNC:857"	"ATP6V1E1"	"MONDO:0027462"	"autosomal recessive cutis laxa type 2C"	"OMIM:617402"	"Cutis laxa, autosomal recessive, type IIC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:857"	"ATP6V1E1"	"OMIM:617402"	"Cutis laxa, autosomal recessive, type IIC MIM#617402"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28065471, 27023906"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.857"	"2020-11-09"
"GENCC_000111-HGNC_17978-OMIM_615349-HP_0000007-GENCC_100002"	"HGNC:17978"	"B3GALT6"	"MONDO:0014139"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17978"	"B3GALT6"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"29931299, 28306229"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.17978"	"2020-11-09"
"GENCC_000111-HGNC_930-OMIM_130070-HP_0000007-GENCC_100002"	"HGNC:930"	"B4GALT7"	"MONDO:0020682"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"OMIM:130070"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:930"	"B4GALT7"	"OMIM:130070"	"Ehlers-Danlos syndrome with short stature and limb anomalies, 130070"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306229, 26940150, 24755949, 23956117"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.930"	"2020-11-09"
"GENCC_000111-HGNC_1246-OMIM_130080-HP_0000006-GENCC_100002"	"HGNC:1246"	"C1R"	"MONDO:0020684"	"Ehlers-Danlos syndrome, periodontal type 1"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1246"	"C1R"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 27745832, 28306229"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.1246"	"2020-11-09"
"GENCC_000111-HGNC_1247-OMIM_130080-HP_0000006-GENCC_100003"	"HGNC:1247"	"C1S"	"MONDO:0020684"	"Ehlers-Danlos syndrome, periodontal type 1"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type, 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1247"	"C1S"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 27745832, 31921203, 28306229"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.1247"	"2020-11-09"
"GENCC_000111-HGNC_1550-OMIM_236200-HP_0000007-GENCC_100002"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"classic homocystinuria"	"OMIM:236200"	"Homocystinuria, B6-responsive and nonresponsive types"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1550"	"CBS"	"OMIM:236200"	"Homocystinuria (MIM# 236200)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.1550"	"2020-11-09"
"GENCC_000111-HGNC_24464-OMIM_601776-HP_0000007-GENCC_100002"	"HGNC:24464"	"CHST14"	"MONDO:0020681"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"OMIM:601776"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24464"	"CHST14"	"OMIM:601776"	"Ehlers-Danlos syndrome, musculocontractural type 1 (MIM# 601776)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306229, 25703627, 26373698"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.24464"	"2020-11-09"
"GENCC_000111-HGNC_2197-OMIM_130060-HP_0000006-GENCC_100002"	"HGNC:2197"	"COL1A1"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"OMIM:130060"	"Ehlers-Danlos syndrome, arthrochalasia type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2197"	"COL1A1"	"OMIM:130060"	"Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM# 130060"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 28981071"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.2197"	"2020-11-09"
"GENCC_000111-HGNC_2198-OMIM_617821-HP_0000006-GENCC_100002"	"HGNC:2198"	"COL1A2"	"MONDO:0040501"	"ehlers-danlos syndrome, arthrochalasia type, 2"	"OMIM:617821"	"Ehlers-Danlos syndrome, arthrochalasia type, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2198"	"COL1A2"	"OMIM:617821"	"Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306229, 32091183, 2993307, 30821104"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.2198.1"	"2020-11-09"
"GENCC_000111-HGNC_2198-OMIM_225320-HP_0000007-GENCC_100002"	"HGNC:2198"	"COL1A2"	"MONDO:0009159"	"Ehlers-Danlos syndrome, cardiac valvular type"	"OMIM:225320"	"Ehlers-Danlos syndrome, cardiac valvular type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2198"	"COL1A2"	"OMIM:225320"	"Ehlers-Danlos syndrome, cardiac valvular type MIM#225320"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306229, 32091183, 2993307, 30821104"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.2198.2"	"2020-11-09"
"GENCC_000111-HGNC_2201-OMIM_130050-HP_0000006-GENCC_100002"	"HGNC:2201"	"COL3A1"	"MONDO:0007524"	"autosomal dominant Ehlers-Danlos syndrome, vascular type"	"OMIM:130050"	"Ehlers-Danlos syndrome, vascular type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2201"	"COL3A1"	"OMIM:130050"	"Ehlers-Danlos syndrome, vascular type, MIM#130050"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 25758994"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.2201.1"	"2020-11-09"
"GENCC_000111-HGNC_2201-OMIM_618343-HP_0000007-GENCC_100002"	"HGNC:2201"	"COL3A1"	"MONDO:0032688"	"polymicrogyria with or without vascular-type Ehlers-Danlos syndrome"	"OMIM:618343"	"Polymicrogyria with or without vascular-type EDS"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2201"	"COL3A1"	"OMIM:618343"	"Polymicrogyria with or without vascular-type EDS, MIM#618343"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 25758994"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.2201.2"	"2020-11-09"
"GENCC_000111-HGNC_2209-OMIM_130000-HP_0000006-GENCC_100002"	"HGNC:2209"	"COL5A1"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"OMIM:130000"	"Ehlers-Danlos syndrome, classic type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2209"	"COL5A1"	"OMIM:130000"	"Ehlers-Danlos syndrome, classic type, 1, MIM# 130000"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.2209"	"2020-11-09"
"GENCC_000111-HGNC_21144-OMIM_615539-HP_0000007-GENCC_100002"	"HGNC:21144"	"DSE"	"MONDO:0014236"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"OMIM:615539"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21144"	"DSE"	"OMIM:615539"	"Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306229, 23704329, 25703627, 32130795"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.21144"	"2020-11-09"
"GENCC_000111-HGNC_3219-OMIM_614437-HP_0000007-GENCC_100002"	"HGNC:3219"	"EFEMP2"	"MONDO:0013754"	"cutis laxa, autosomal recessive, type 1B"	"OMIM:614437"	"Cutis laxa, autosomal recessive, type IB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3219"	"EFEMP2"	"OMIM:614437"	"Cutis laxa, autosomal recessive, type IB MIM# 614437"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"20389311, 19664000, 16685658, 17937443, 22943132, 22440127"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.3219"	"2020-11-09"
"GENCC_000111-HGNC_3327-OMIM_123700-HP_0000006-GENCC_100002"	"HGNC:3327"	"ELN"	"MONDO:0007411"	"cutis laxa, autosomal dominant 1"	"OMIM:123700"	"Cutis laxa, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3327"	"ELN"	"OMIM:123700"	"Cutis laxa 123700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"27866049, 31560829, 19844261, 19844261"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.3327"	"2020-11-09"
"GENCC_000111-HGNC_3602-OMIM_219100-HP_0000007-GENCC_100002"	"HGNC:3602"	"FBLN5"	"MONDO:0009052"	"cutis laxa, autosomal recessive, type 1A"	"OMIM:219100"	"Cutis laxa, autosomal recessive, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3602"	"FBLN5"	"OMIM:219100"	"Cutis laxa, autosomal recessive, type IA, MIM# 219100"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"3232707, 22829427, 11805835"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.3602"	"2020-11-09"
"GENCC_000111-HGNC_3603-OMIM_154700-HP_0000006-GENCC_100002"	"HGNC:3603"	"FBN1"	"MONDO:0007947"	"Marfan syndrome"	"OMIM:154700"	"Marfan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3603"	"FBN1"	"OMIM:154700"	"Marfan syndrome (154700)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"29357934"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.3603"	"2020-11-09"
"GENCC_000111-HGNC_3604-OMIM_121050-HP_0000006-GENCC_100002"	"HGNC:3604"	"FBN2"	"MONDO:0007363"	"congenital contractural arachnodactyly"	"OMIM:121050"	"Contractural arachnodactyly, congenital"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3604"	"FBN2"	"OMIM:121050"	"Contractural arachnodactyly, congenital, MIM# 121050"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.3604"	"2020-11-09"
"GENCC_000111-HGNC_18625-OMIM_614557-HP_0000007-GENCC_100002"	"HGNC:18625"	"FKBP14"	"MONDO:0013800"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"OMIM:614557"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18625"	"FKBP14"	"OMIM:614557"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"22265013, 28306229, 24773188, 27149304"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.18625"	"2020-11-09"
"GENCC_000111-HGNC_3808-OMIM_617349-HP_0000006-GENCC_100003"	"HGNC:3808"	"FOXE3"	"MONDO:0044301"	"aortic aneurysm, familial thoracic 11, susceptibility to"	"OMIM:617349"	"{Aortic aneurysm, familial thoracic 11, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3808"	"FOXE3"	"OMIM:617349"	"{Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM# 617349"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 26854927"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.3808"	"2020-11-09"
"GENCC_000111-HGNC_25676-OMIM_231070-HP_0000007-GENCC_100003"	"HGNC:25676"	"GORAB"	"MONDO:0009271"	"geroderma osteodysplastica"	"OMIM:231070"	"Geroderma osteodysplasticum"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25676"	"GORAB"	"OMIM:231070"	"Geroderma osteodysplasticum MIM#231070"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"18997784, 19681135"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.25676"	"2020-11-09"
"GENCC_000111-HGNC_6664-OMIM_617168-HP_0000006-GENCC_100002"	"HGNC:6664"	"LOX"	"MONDO:0014950"	"aortic aneurysm, familial thoracic 10"	"OMIM:617168"	"Aortic aneurysm, familial thoracic 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6664"	"LOX"	"OMIM:617168"	"Aortic aneurysm, familial thoracic 10, MIM#617168"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 26838787, 30675029"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.6664"	"2020-11-09"
"GENCC_000111-HGNC_6717-OMIM_613177-HP_0000007-GENCC_100002"	"HGNC:6717"	"LTBP4"	"MONDO:0013170"	"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"	"OMIM:613177"	"Cutis laxa, autosomal recessive, type IC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6717"	"LTBP4"	"OMIM:613177"	"Cutis laxa, autosomal recessive, type IC (MIM#  613177)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"22829427"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.6717"	"2020-11-09"
"GENCC_000111-HGNC_29673-OMIM_616166-HP_0000006-GENCC_100003"	"HGNC:29673"	"MFAP5"	"MONDO:0014514"	"aortic aneurysm, familial thoracic 9"	"OMIM:616166"	"Aortic aneurysm, familial thoracic 9"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29673"	"MFAP5"	"OMIM:616166"	"Aortic aneurysm, familial thoracic MIM# 616166"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"25434006, 30763214"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.29673"	"2020-11-09"
"GENCC_000111-HGNC_7881-OMIM_109730-HP_0000006-GENCC_100002"	"HGNC:7881"	"NOTCH1"	"MONDO:0024523"	"aortic valve disease 1"	"OMIM:109730"	"Aortic valve disease 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7881"	"NOTCH1"	"OMIM:109730"	"Aortic valve disease MIM# 109730"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"16729972, 26820064, 16025100, 25963545"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.7881"	"2020-11-09"
"GENCC_000111-HGNC_9081-OMIM_225400-HP_0000007-GENCC_100002"	"HGNC:9081"	"PLOD1"	"MONDO:0016002"	"Ehlers-Danlos syndrome, kyphoscoliotic type 1"	"OMIM:225400"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9081"	"PLOD1"	"OMIM:225400"	"Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306225, 28306229"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.9081"	"2020-11-09"
"GENCC_000111-HGNC_9349-OMIM_614170-HP_0000007-GENCC_100002"	"HGNC:9349"	"PRDM5"	"MONDO:0013605"	"brittle cornea syndrome 2"	"OMIM:614170"	"Brittle cornea syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9349"	"PRDM5"	"OMIM:614170"	"Brittle cornea syndrome 2, MIM#614170"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306229, 21664999"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.9349"	"2020-11-09"
"GENCC_000111-HGNC_9587-OMIM_151050-HP_0000006-GENCC_100002"	"HGNC:9587"	"PTDSS1"	"MONDO:0007892"	"Lenz-Majewski hyperostotic dwarfism"	"OMIM:151050"	"Lenz-Majewski hyperostotic dwarfism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9587"	"PTDSS1"	"OMIM:151050"	"Lenz-Majewski hyperostotic dwarfism MIM#151050"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"24241535, 29341480, 31403251"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.9587"	"2020-11-09"
"GENCC_000111-HGNC_9721-OMIM_612940-HP_0000007-GENCC_100002"	"HGNC:9721"	"PYCR1"	"MONDO:0013051"	"autosomal recessive cutis laxa type 2B"	"OMIM:612940"	"Cutis laxa, autosomal recessive, type IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9721"	"PYCR1"	"OMIM:612940"	"Cutis laxa, autosomal recessive, type IIB, MIM#612940"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"19648921, 4076251, 22052856, 19576563, 19648921, 9648921, 22052856, 28294978, 27756598"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.9721.1"	"2020-11-09"
"GENCC_000111-HGNC_9721-OMIM_614438-HP_0000007-GENCC_100002"	"HGNC:9721"	"PYCR1"	"MONDO:0013755"	"PYCR1-related de Barsy syndrome"	"OMIM:614438"	"Cutis laxa, autosomal recessive, type IIIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9721"	"PYCR1"	"OMIM:614438"	"Cutis laxa, autosomal recessive, type IIIB, MIM#614438"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"19648921, 4076251, 22052856, 19576563, 19648921, 9648921, 22052856, 28294978, 27756598"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.9721.2"	"2020-11-09"
"GENCC_000111-HGNC_18750-OMIM_613075-HP_0000007-GENCC_100002"	"HGNC:18750"	"RIN2"	"MONDO:0013115"	"RIN2 syndrome"	"OMIM:613075"	"Macrocephaly, alopecia, cutis laxa, and scoliosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18750"	"RIN2"	"OMIM:613075"	"Macrocephaly, alopecia, cutis laxa, and scoliosis (MIM# 613075)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"19631308, 20424861, 23963297, 24449201"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.18750"	"2020-11-09"
"GENCC_000111-HGNC_17985-OMIM_618496-HP_0000006-GENCC_100002"	"HGNC:17985"	"ROBO4"	"MONDO:0032783"	"aortic valve disease 3"	"OMIM:618496"	"Aortic valve disease 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17985"	"ROBO4"	"OMIM:618496"	"Aortic valve disease 8, MIM# 618496"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30455415"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.17985"	"2020-11-09"
"GENCC_000111-HGNC_20859-OMIM_612350-HP_0000007-GENCC_100002"	"HGNC:20859"	"SLC39A13"	"MONDO:0012873"	"Ehlers-Danlos syndrome, spondylocheirodysplastic type"	"OMIM:612350"	"Ehlers-Danlos syndrome, spondylodysplastic type, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20859"	"SLC39A13"	"OMIM:612350"	"Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"18985159, 18513683, 28306229, 28306225"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.20859"	"2020-11-09"
"GENCC_000111-HGNC_6769-OMIM_613795-HP_0000006-GENCC_100002"	"HGNC:6769"	"SMAD3"	"MONDO:0013426"	"aneurysm-osteoarthritis syndrome"	"OMIM:613795"	"Loeys-Dietz syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6769"	"SMAD3"	"OMIM:613795"	"Loeys-Dietz syndrome 3, MIM# 613795"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"21217753, 30661052"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.6769"	"2020-11-09"
"GENCC_000111-HGNC_6770-OMIM_175050-HP_0000006-GENCC_100002"	"HGNC:6770"	"SMAD4"	"MONDO:0008278"	"juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"OMIM:175050"	"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6770"	"SMAD4"	"OMIM:175050"	"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30809044"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.6770"	"2020-11-09"
"GENCC_000111-HGNC_6772-OMIM_614823-HP_0000006-GENCC_100003"	"HGNC:6772"	"SMAD6"	"MONDO:0013902"	"aortic valve disease 2"	"OMIM:614823"	"Aortic valve disease 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6772"	"SMAD6"	"OMIM:614823"	"Aortic valve disease 2 MIM# 614823"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"22275001, 28659821, 30963242, 30848080, 30796334"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.6772"	"2020-11-09"
"GENCC_000111-HGNC_11768-OMIM_614816-HP_0000006-GENCC_100002"	"HGNC:11768"	"TGFB2"	"MONDO:0013897"	"Loeys-Dietz syndrome 4"	"OMIM:614816"	"Loeys-Dietz syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11768"	"TGFB2"	"OMIM:614816"	"Loeys-Dietz syndrome 4, MIM# 614816"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 22772371"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.11768"	"2020-11-09"
"GENCC_000111-HGNC_11769-OMIM_615582-HP_0000006-GENCC_100002"	"HGNC:11769"	"TGFB3"	"MONDO:0014262"	"Rienhoff syndrome"	"OMIM:615582"	"Loeys-Dietz syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11769"	"TGFB3"	"OMIM:615582"	"Loeys-Dietz syndrome 5, MI# 615582"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 25835445"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.11769"	"2020-11-09"
"GENCC_000111-HGNC_11772-OMIM_609192-HP_0000006-GENCC_100002"	"HGNC:11772"	"TGFBR1"	"MONDO:0012212"	"Loeys-Dietz syndrome 1"	"OMIM:609192"	"Loeys-Dietz syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11772"	"TGFBR1"	"OMIM:609192"	"Loeys-Dietz syndrome 1, MIM# 609192"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 27879313"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.11772"	"2020-11-09"
"GENCC_000111-HGNC_11773-OMIM_610168-HP_0000006-GENCC_100002"	"HGNC:11773"	"TGFBR2"	"MONDO:0012427"	"Loeys-Dietz syndrome 2"	"OMIM:610168"	"Loeys-Dietz syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11773"	"TGFBR2"	"OMIM:610168"	"Loeys-Dietz syndrome 2, MIM# 610168"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"30071989, 27879313"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.11773"	"2020-11-09"
"GENCC_000111-HGNC_11976-OMIM_606408-HP_0000007-GENCC_100002"	"HGNC:11976"	"TNXB"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"OMIM:606408"	"Ehlers-Danlos syndrome, classic-like, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11976"	"TNXB"	"OMIM:606408"	"Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306229, 28306225, 23620400"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.11976"	"2020-11-09"
"GENCC_000111-HGNC_23216-OMIM_229200-HP_0000007-GENCC_100002"	"HGNC:23216"	"ZNF469"	"MONDO:0024543"	"brittle cornea syndrome 1"	"OMIM:229200"	"Brittle cornea syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23216"	"ZNF469"	"OMIM:229200"	"Brittle cornea syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/44/"	""	"28306229, 28306225"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.44.23216"	"2020-11-09"
"GENCC_000111-HGNC_144-OMIM_614583-HP_0000006-GENCC_100002"	"HGNC:144"	"ACTG1"	"MONDO:0013812"	"Baraitser-winter syndrome 2"	"OMIM:614583"	"Baraitser-Winter syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:144"	"ACTG1"	"OMIM:614583"	"Baraitser-Winter syndrome 2 (MIM#614583)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:10"	"https://panelapp.agha.umccr.org/panels/15/"	""	"29671837, 27240540, 25052316"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.144"	"2021-03-09"
"GENCC_000111-HGNC_438-OMIM_146300-HP_0000006-GENCC_100002"	"HGNC:438"	"ALPL"	"MONDO:0007798"	"adult hypophosphatasia"	"OMIM:146300"	"Hypophosphatasia, adult"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:438"	"ALPL"	"OMIM:146300"	"Hypophosphatasia, adult, MIM#146300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"29405940, 26590809, 30979546, 31754721"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.438.1"	"2020-11-09"
"GENCC_000111-HGNC_438-OMIM_241500-HP_0000007-GENCC_100002"	"HGNC:438"	"ALPL"	"MONDO:0009427"	"infantile hypophosphatasia"	"OMIM:241500"	"Hypophosphatasia, infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:438"	"ALPL"	"OMIM:241500"	"241500 HYPOPHOSPHATASIA, INFANTILE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"29405940, 26590809, 30979546, 31754721"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.438.2"	"2020-11-09"
"GENCC_000111-HGNC_450-OMIM_609597-HP_0000006-GENCC_100002"	"HGNC:450"	"ALX4"	"MONDO:0012309"	"parietal foramina 2"	"OMIM:609597"	"Parietal foramina 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:450"	"ALX4"	"OMIM:609597"	"Parietal foramina 2 MIM#609597"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"19692347, 29215649, 22829454"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.450.1"	"2020-11-09"
"GENCC_000111-HGNC_450-OMIM_613451-HP_0000007-GENCC_100002"	"HGNC:450"	"ALX4"	"MONDO:0013268"	"frontonasal dysplasia with alopecia and genital anomaly"	"OMIM:613451"	"Frontonasal dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:450"	"ALX4"	"OMIM:613451"	"Frontonasal dysplasia 2, MIM# 613451"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:24"	"https://panelapp.agha.umccr.org/panels/104/"	""	"19692347, 22140057, 24668755, 32216639, 31914496, 29681084"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.104.450"	"2021-03-09"
"GENCC_000111-HGNC_714-OMIM_253200-HP_0000007-GENCC_100002"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"OMIM:253200"	"Mucopolysaccharidosis type VI (Maroteaux-Lamy)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:714"	"ARSB"	"OMIM:253200"	"Mucopolysaccharidosis VI (MPS6, MIM# 253200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.714"	"2020-11-09"
"GENCC_000111-HGNC_18318-OMIM_605039-HP_0000006-GENCC_100002"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"OMIM:605039"	"Bohring-Opitz syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18318"	"ASXL1"	"OMIM:605039"	"Bohring-Opitz syndrome,MIM# 605039"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.18318"	"2020-11-09"
"GENCC_000111-HGNC_923-OMIM_245600-HP_0000007-GENCC_100002"	"HGNC:923"	"B3GAT3"	"MONDO:0009511"	"Larsen-like syndrome, B3GAT3 type"	"OMIM:245600"	"Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:923"	"B3GAT3"	"OMIM:245600"	"245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"31438591"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.923"	"2020-11-09"
"GENCC_000111-HGNC_1739-OMIM_617063-HP_0000007-GENCC_100002"	"HGNC:1739"	"CDC45"	"MONDO:0014894"	"Meier-Gorlin syndrome 7"	"OMIM:617063"	"Meier-Gorlin syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1739"	"CDC45"	"OMIM:617063"	"Meier-Gorlin syndrome 7 MIM#617063"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"27374770"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.1739"	"2020-11-09"
"GENCC_000111-HGNC_17213-OMIM_265050-HP_0000007-GENCC_100002"	"HGNC:17213"	"COLEC11"	"MONDO:0009927"	"3MC syndrome 2"	"OMIM:265050"	"3MC syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17213"	"COLEC11"	"OMIM:265050"	"265050 3MC SYNDROME 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"21258343"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.17213"	"2020-11-09"
"GENCC_000111-HGNC_2536-OMIM_265800-HP_0000007-GENCC_100002"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"OMIM:265800"	"Pycnodysostosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2536"	"CTSK"	"OMIM:265800"	"Pycnodysostosis, MIM#265800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"21968522, 23175007"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.2536"	"2020-11-09"
"GENCC_000111-HGNC_20581-OMIM_614416-HP_0000007-GENCC_100002"	"HGNC:20581"	"CYP26B1"	"MONDO:0013740"	"lethal occipital encephalocele-skeletal dysplasia syndrome"	"OMIM:614416"	"Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20581"	"CYP26B1"	"OMIM:614416"	"614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"27410456, 22019272"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.20581"	"2020-11-09"
"GENCC_000111-HGNC_3003-OMIM_616901-HP_0000007-GENCC_100002"	"HGNC:3003"	"DPH1"	"MONDO:0014824"	"craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"	"OMIM:616901"	"Developmental delay with short stature, dysmorphic facial features, and sparse hair"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3003"	"DPH1"	"OMIM:616901"	"616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"29362492, 29410513, 25558065, 26220823"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3003"	"2020-11-09"
"GENCC_000111-HGNC_3444-OMIM_600775-HP_0000006-GENCC_100002"	"HGNC:3444"	"ERF"	"MONDO:0010929"	"craniosynostosis 4"	"OMIM:600775"	"Craniosynostosis 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3444"	"ERF"	"OMIM:600775"	"Craniosynostosis 4, MIM# 600775"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"23354439, 26097063, 32370745, 30758909"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3444"	"2020-11-09"
"GENCC_000111-HGNC_3687-OMIM_612961-HP_0000006-GENCC_100003"	"HGNC:3687"	"FGF9"	"MONDO:0013064"	"multiple synostoses syndrome 3"	"OMIM:612961"	"Multiple synostoses syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3687"	"FGF9"	"OMIM:612961"	"Multiple synostoses syndrome 3 MIM#612961"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3687"	"2020-11-09"
"GENCC_000111-HGNC_3688-OMIM_101600-HP_0000006-GENCC_100002"	"HGNC:3688"	"FGFR1"	"MONDO:0007043"	"Pfeiffer syndrome"	"OMIM:101600"	"Pfeiffer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3688"	"FGFR1"	"OMIM:101600"	"Pfeiffer syndrome, MIM# 101600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3688"	"2020-11-09"
"GENCC_000111-HGNC_3689-OMIM_101200-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007041"	"Apert syndrome"	"OMIM:101200"	"Apert syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3689"	"FGFR2"	"OMIM:101200"	"Apert syndrome, MIM# 101200"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3689.1"	"2020-11-09"
"GENCC_000111-HGNC_3689-OMIM_123500-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007405"	"Crouzon syndrome"	"OMIM:123500"	"Crouzon syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3689"	"FGFR2"	"OMIM:123500"	"Crouzon syndrome, MIM# 123500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3689.2"	"2020-11-09"
"GENCC_000111-HGNC_3689-OMIM_101600-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007043"	"Pfeiffer syndrome"	"OMIM:101600"	"Pfeiffer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3689"	"FGFR2"	"OMIM:101600"	"Pfeiffer syndrome, MIM# 101600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3689.3"	"2020-11-09"
"GENCC_000111-HGNC_3689-OMIM_101400-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"OMIM:101400"	"Saethre-Chotzen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3689"	"FGFR2"	"OMIM:101400"	"Saethre-Chotzen syndrome, MIM# 101400"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3689.4"	"2020-11-09"
"GENCC_000111-HGNC_3690-OMIM_612247-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0012833"	"Crouzon syndrome-acanthosis nigricans syndrome"	"OMIM:612247"	"Crouzon syndrome with acanthosis nigricans"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3690"	"FGFR3"	"OMIM:612247"	"Crouzon syndrome with acanthosis nigricans, MIM# 612247"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3690"	"2020-11-09"
"GENCC_000111-HGNC_3690-OMIM_602849-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0011274"	"Muenke syndrome"	"OMIM:602849"	"Muenke syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3690"	"FGFR3"	"OMIM:602849"	"Muenke syndrome, MIM# 602849"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3690"	"2020-11-09"
"GENCC_000111-HGNC_23399-OMIM_614485-HP_0000006-GENCC_100005"	"HGNC:23399"	"FREM1"	"MONDO:0013774"	"trigonocephaly 2"	"OMIM:614485"	"Trigonocephaly 2"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23399"	"FREM1"	"OMIM:614485"	"Trigonocephaly 2, MIM# 614485"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100005"	"Disputed"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"21931569"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.23399"	"2020-11-09"
"GENCC_000111-HGNC_4319-OMIM_175700-HP_0000006-GENCC_100002"	"HGNC:4319"	"GLI3"	"MONDO:0008287"	"Greig cephalopolysyndactyly syndrome"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4319"	"GLI3"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome MIM#175700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"20583172, 20570969, 21326280"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.4319"	"2020-11-09"
"GENCC_000111-HGNC_29670-OMIM_252500-HP_0000007-GENCC_100002"	"HGNC:29670"	"GNPTAB"	"MONDO:0009650"	"mucolipidosis type II"	"OMIM:252500"	"Mucolipidosis II alpha/beta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29670"	"GNPTAB"	"OMIM:252500"	"Mucolipidosis II alpha/beta(I cell disease), MIM# 252500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"24891900, 24060719"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.29670"	"2020-11-09"
"GENCC_000111-HGNC_5044-OMIM_616580-HP_0000006-GENCC_100002"	"HGNC:5044"	"HNRNPK"	"MONDO:0014700"	"Au-Kline syndrome"	"OMIM:616580"	"Au-Kline syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5044"	"HNRNPK"	"OMIM:616580"	"Au-Kline syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"26173930, 26954065, 29904177"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.5044"	"2020-11-09"
"GENCC_000111-HGNC_5389-OMIM_309900-HP_0000007-GENCC_100002"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"OMIM:309900"	"Mucopolysaccharidosis II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5389"	"IDS"	"OMIM:309900"	"Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"15314824"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.5389"	"2020-11-09"
"GENCC_000111-HGNC_5391-OMIM_607014-HP_0000007-GENCC_100002"	"HGNC:5391"	"IDUA"	"MONDO:0011758"	"Hurler syndrome"	"OMIM:607014"	"Mucopolysaccharidosis Ih"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5391"	"IDUA"	"OMIM:607014"	"Mucopolysaccharidosis  (Hurler syndrome) 607014"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"23917744"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.5391"	"2020-11-09"
"GENCC_000111-HGNC_13556-OMIM_218330-HP_0000007-GENCC_100002"	"HGNC:13556"	"IFT122"	"MONDO:0021093"	"cranioectodermal dysplasia 1"	"OMIM:218330"	"Cranioectodermal dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13556"	"IFT122"	"OMIM:218330"	"Cranioectodermal dysplasia 1 MIM#218330"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"26792575, 28370949, 29037998"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.13556"	"2020-11-09"
"GENCC_000111-HGNC_5967-OMIM_614188-HP_0000007-GENCC_100002"	"HGNC:5967"	"IL11RA"	"MONDO:0013615"	"craniosynostosis and dental anomalies"	"OMIM:614188"	"Craniosynostosis and dental anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5967"	"IL11RA"	"OMIM:614188"	"Craniosynostosis and dental anomalies, MIM# 614188"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"21741611, 32277509, 30811827, 29926465, 24498618"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.5967"	"2020-11-09"
"GENCC_000111-HGNC_14361-OMIM_611174-HP_0000007-GENCC_100004"	"HGNC:14361"	"IRX5"	"MONDO:0012634"	"craniofacial dysplasia - osteopenia syndrome"	"OMIM:611174"	"Hamamy syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14361"	"IRX5"	"OMIM:611174"	"Hamamy syndrome MIM#611174"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"22581230"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.14361"	"2020-11-09"
"GENCC_000111-HGNC_13013-OMIM_616268-HP_0000006-GENCC_100002"	"HGNC:13013"	"KAT6A"	"MONDO:0014558"	"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"OMIM:616268"	"Arboleda-Tham syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13013"	"KAT6A"	"OMIM:616268"	"Arboleda-Tham syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"30245513, 25728777"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.13013"	"2020-11-09"
"GENCC_000111-HGNC_3233-OMIM_614976-HP_0000007-GENCC_100002"	"HGNC:3233"	"MEGF8"	"MONDO:0013998"	"MEGF8-related Carpenter syndrome"	"OMIM:614976"	"Carpenter syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3233"	"MEGF8"	"OMIM:614976"	"Carpenter syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"23063620"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.3233"	"2020-11-09"
"GENCC_000111-HGNC_7392-OMIM_604757-HP_0000006-GENCC_100002"	"HGNC:7392"	"MSX2"	"MONDO:0011481"	"craniosynostosis 2"	"OMIM:604757"	"Craniosynostosis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7392"	"MSX2"	"OMIM:604757"	"Craniosynostosis 2, MIM# 604757"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"23949913, 27884935, 23918290, 2359311, 22948472, 19533795"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.7392"	"2020-11-09"
"GENCC_000111-HGNC_8548-OMIM_112240-HP_0000006-GENCC_100002"	"HGNC:8548"	"P4HB"	"MONDO:0007204"	"Cole-Carpenter syndrome 1"	"OMIM:112240"	"Cole-Carpenter syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8548"	"P4HB"	"OMIM:112240"	"Cole-Carpenter syndrome 1, MIM# 112240"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"30063094, 29263160, 25683117, 29384951"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.8548"	"2020-11-09"
"GENCC_000111-HGNC_9208-OMIM_201750-HP_0000007-GENCC_100002"	"HGNC:9208"	"POR"	"MONDO:0008726"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	"OMIM:201750"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9208"	"POR"	"OMIM:201750"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM# 201750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"26969897, 26670660, 18259105"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.9208"	"2020-11-09"
"GENCC_000111-HGNC_14263-OMIM_201000-HP_0000007-GENCC_100002"	"HGNC:14263"	"RAB23"	"MONDO:0008710"	"RAB23-related Carpenter syndrome"	"OMIM:201000"	"Carpenter syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14263"	"RAB23"	"OMIM:201000"	"201000 CARPENTER SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"17503333"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.14263"	"2020-11-09"
"GENCC_000111-HGNC_9949-OMIM_218600-HP_0000007-GENCC_100002"	"HGNC:9949"	"RECQL4"	"MONDO:0009039"	"Baller-Gerold syndrome"	"OMIM:218600"	"Baller-Gerold syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9949"	"RECQL4"	"OMIM:218600"	"Baller-Gerold syndrome, MIM# 218600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.9949"	"2020-11-09"
"GENCC_000111-HGNC_19869-OMIM_600920-HP_0000007-GENCC_100004"	"HGNC:19869"	"SCARF2"	"MONDO:0010959"	"van den Ende-Gupta syndrome"	"OMIM:600920"	"Van den Ende-Gupta syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:19869"	"SCARF2"	"OMIM:600920"	"Van den Ende-Gupta syndrome MIM#600920"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"23808541"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.19869"	"2020-11-09"
"GENCC_000111-HGNC_10896-OMIM_182212-HP_0000006-GENCC_100002"	"HGNC:10896"	"SKI"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10896"	"SKI"	"OMIM:182212"	"SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"23023332, 23103230, 24736733"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.10896"	"2020-11-09"
"GENCC_000111-HGNC_20662-OMIM_612289-HP_0000006-GENCC_100002"	"HGNC:20662"	"SLC25A24"	"MONDO:0012853"	"Fontaine progeroid syndrome"	"OMIM:612289"	"Fontaine progeroid syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20662"	"SLC25A24"	"OMIM:612289"	"Fontaine progeroid syndrome MIM#612289"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"29100093"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.20662"	"2020-11-09"
"GENCC_000111-HGNC_6772-OMIM_617439-HP_0000006-GENCC_100002"	"HGNC:6772"	"SMAD6"	"MONDO:0044315"	"craniosynostosis 7"	"OMIM:617439"	"{Craniosynostosis 7, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6772"	"SMAD6"	"OMIM:617439"	"Craniosynostosis 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"32499606, 27606499"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.6772"	"2020-11-09"
"GENCC_000111-HGNC_11119-OMIM_601707-HP_0000006-GENCC_100002"	"HGNC:11119"	"SMO"	"MONDO:0011134"	"Curry-Jones syndrome"	"OMIM:601707"	"Curry-Jones syndrome, somatic mosaic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11119"	"SMO"	"OMIM:601707"	"Curry-Jones syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"27236920"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.11119"	"2020-11-09"
"GENCC_000111-HGNC_16421-OMIM_618971-HP_0000006-GENCC_100002"	"HGNC:16421"	"SOX6"	"MONDO:0033544"	"Tolchin-Le Caignec syndrome"	"OMIM:618971"	"Tolchin-Le Caignec syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16421"	"SOX6"	"OMIM:618971"	"Tolchin-Le Caignec syndrome, MIM#618971"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"32442410"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.16421"	"2020-11-09"
"GENCC_000111-HGNC_29022-OMIM_145420-HP_0000006-GENCC_100002"	"HGNC:29022"	"SPECC1L"	"MONDO:0007780"	"hypertelorism, Teebi type"	"OMIM:145420"	"Teebi hypertelorism syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29022"	"SPECC1L"	"OMIM:145420"	"Hypertelorism, Teebi type, MIM# 145420"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:24"	"https://panelapp.agha.umccr.org/panels/104/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.104.29022.2"	"2021-03-09"
"GENCC_000111-HGNC_29022-OMIM_145410-HP_0000006-GENCC_100002"	"HGNC:29022"	"SPECC1L"	"MONDO:0007779"	"autosomal dominant Opitz G/BBB syndrome"	"OMIM:145410"	"OMIM:145410"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29022"	"SPECC1L"	"OMIM:145410"	"Opitz GBBB syndrome, type II, MIM# 145410"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:24"	"https://panelapp.agha.umccr.org/panels/104/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.104.29022.1"	"2021-03-09"
"GENCC_000111-HGNC_11623-OMIM_615314-HP_0000006-GENCC_100002"	"HGNC:11623"	"TCF12"	"MONDO:0014128"	"TCF12-related craniosynostosis"	"OMIM:615314"	"Craniosynostosis 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11623"	"TCF12"	"OMIM:615314"	"Craniosynostosis 3, MIM# 615314"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"23354436"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.11623"	"2020-11-09"
"GENCC_000111-HGNC_11842-OMIM_618050-HP_0000006-GENCC_100003"	"HGNC:11842"	"TLK2"	"MONDO:0054837"	"intellectual disability, autosomal dominant 57"	"OMIM:618050"	"Intellectual developmental disorder, autosomal dominant 57"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11842"	"TLK2"	"OMIM:618050"	"Mental retardation, autosomal dominant 57, MIM#618050"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"29861108"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.11842"	"2020-11-09"
"GENCC_000111-HGNC_18188-OMIM_213980-HP_0000007-GENCC_100003"	"HGNC:18188"	"TMCO1"	"MONDO:0008952"	"cerebrofaciothoracic dysplasia"	"OMIM:213980"	"Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18188"	"TMCO1"	"OMIM:213980"	"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"20018682, 24424126, 24194475"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.18188"	"2020-11-09"
"GENCC_000111-HGNC_12428-OMIM_123100-HP_0000006-GENCC_100002"	"HGNC:12428"	"TWIST1"	"MONDO:0007399"	"TWIST1-related craniosynostosis"	"OMIM:123100"	"Craniosynostosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12428"	"TWIST1"	"OMIM:123100"	"Craniosynostosis 1, MIM# 123100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"17343269, 9585583, 12116251, 31299755, 30040876"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.12428.1"	"2020-11-09"
"GENCC_000111-HGNC_12428-OMIM_101400-HP_0000006-GENCC_100002"	"HGNC:12428"	"TWIST1"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"OMIM:101400"	"Saethre-Chotzen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12428"	"TWIST1"	"OMIM:101400"	"Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"17343269, 9585583, 12116251, 31299755, 30040876"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.12428.2"	"2020-11-09"
"GENCC_000111-HGNC_29250-OMIM_613610-HP_0000007-GENCC_100002"	"HGNC:29250"	"WDR35"	"MONDO:0013323"	"cranioectodermal dysplasia 2"	"OMIM:613610"	"Cranioectodermal dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29250"	"WDR35"	"OMIM:613610"	"Cranioectodermal dysplasia 2, MIM# 613610"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"20817137, 24123776"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.29250"	"2020-11-09"
"GENCC_000111-HGNC_12872-OMIM_618736-HP_0000006-GENCC_100002"	"HGNC:12872"	"ZIC1"	"MONDO:0032892"	"structural brain anomalies with impaired intellectual development and craniosynostosis"	"OMIM:618736"	"Structural brain anomalies with impaired intellectual development and craniosynostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12872"	"ZIC1"	"OMIM:618736"	"Structural brain anomalies with impaired intellectual development and craniosynostosis, MIM# 618736"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"26340333, 32975022, 27884935"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.12872.1"	"2020-11-09"
"GENCC_000111-HGNC_12872-OMIM_616602-HP_0000006-GENCC_100002"	"HGNC:12872"	"ZIC1"	"MONDO:0014705"	"craniosynostosis 6"	"OMIM:616602"	"?Craniosynostosis 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12872"	"ZIC1"	"OMIM:616602"	"Craniosynostosis 6, MIM# 616602"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"26340333, 32975022, 27884935"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.12872.2"	"2020-11-09"
"GENCC_000111-HGNC_21684-OMIM_618619-HP_0000006-GENCC_100002"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"OMIM:618619"	"Weiss-Kruszka syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21684"	"ZNF462"	"OMIM:618619"	"Weiss-Kruszka syndrome, MIM#618619"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-08 00:00:00"	"https://panelapp.agha.umccr.org/panels/93/"	""	"28513610"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.93.21684"	"2020-11-09"
"GENCC_000111-HGNC_32700-OMIM_614679-HP_0000007-GENCC_100002"	"HGNC:32700"	"DNAAF19"	"MONDO:0013854"	"primary ciliary dyskinesia 17"	"OMIM:614679"	"Ciliary dyskinesia, primary, 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:32700"	"CCDC103"	"OMIM:614679"	"Ciliary dyskinesia, primary, 17, MIM# 614679"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"22581229, 32447765, 31858719, 28790179"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.32700"	"2020-11-06"
"GENCC_000111-HGNC_25244-OMIM_613807-HP_0000007-GENCC_100002"	"HGNC:25244"	"CCDC39"	"MONDO:0013434"	"primary ciliary dyskinesia 14"	"OMIM:613807"	"Ciliary dyskinesia, primary, 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25244"	"CCDC39"	"OMIM:613807"	"Ciliary dyskinesia, primary, 14, MIM# 613807"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"21131972, 23255504"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.25244"	"2020-11-06"
"GENCC_000111-HGNC_26090-OMIM_613808-HP_0000007-GENCC_100002"	"HGNC:26090"	"CCDC40"	"MONDO:0013435"	"primary ciliary dyskinesia 15"	"OMIM:613808"	"Ciliary dyskinesia, primary, 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26090"	"CCDC40"	"OMIM:613808"	"Ciliary dyskinesia, primary, 15, MIM#613808"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"21131974, 23255504, 31879361, 31765523, 31650533"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.26090"	"2020-11-06"
"GENCC_000111-HGNC_29937-OMIM_615504-HP_0000007-GENCC_100002"	"HGNC:29937"	"CCDC65"	"MONDO:0014215"	"primary ciliary dyskinesia 27"	"OMIM:615504"	"Ciliary dyskinesia, primary, 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29937"	"CCDC65"	"OMIM:615504"	"Ciliary dyskinesia, primary, 27, MIM# 615504"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"23991085, 24094744"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.29937"	"2020-11-06"
"GENCC_000111-HGNC_26530-OMIM_614779-HP_0000007-GENCC_100002"	"HGNC:26530"	"CFAP53"	"MONDO:0013887"	"heterotaxy, visceral, 6, autosomal"	"OMIM:614779"	"Heterotaxy, visceral, 6, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26530"	"CFAP53"	"OMIM:614779"	"Heterotaxy, visceral, 6, autosomal recessive 614779"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"28621423, 22577226, 26531781"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.26530"	"2020-11-06"
"GENCC_000111-HGNC_18292-OMIM_605376-HP_0000006-GENCC_100002"	"HGNC:18292"	"CFC1"	"MONDO:0011546"	"heterotaxy, visceral, 2, autosomal"	"OMIM:605376"	"Heterotaxy, visceral, 2, autosomal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18292"	"CFC1"	"OMIM:605376"	"Heterotaxy, visceral, 2, autosomal 605376"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"31633655, 18162845, 25423076, 11062482"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.18292"	"2020-11-06"
"GENCC_000111-HGNC_14630-OMIM_606217-HP_0000006-GENCC_100003"	"HGNC:14630"	"CRELD1"	"MONDO:0011650"	"atrioventricular septal defect, susceptibility to, 2"	"OMIM:606217"	"{Atrioventricular septal defect, susceptibility to, 2}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14630"	"CRELD1"	"OMIM:606217"	"Atrioventricular septal defect, partial, with heterotaxy syndrome 606217"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"22740159"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.14630"	"2020-11-06"
"GENCC_000111-HGNC_30539-OMIM_613193-HP_0000007-GENCC_100002"	"HGNC:30539"	"DNAAF1"	"MONDO:0013174"	"primary ciliary dyskinesia 13"	"OMIM:613193"	"Ciliary dyskinesia, primary, 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30539"	"DNAAF1"	"OMIM:613193"	"Ciliary dyskinesia, primary, 13, MIM# 613193"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"19944400, 19944405, 32502479, 29228333, 27261005"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.30539"	"2020-11-06"
"GENCC_000111-HGNC_20188-OMIM_612518-HP_0000007-GENCC_100002"	"HGNC:20188"	"DNAAF2"	"MONDO:0012918"	"primary ciliary dyskinesia 10"	"OMIM:612518"	"Ciliary dyskinesia, primary, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20188"	"DNAAF2"	"OMIM:612518"	"Ciliary dyskinesia, primary, 10 612518"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"19052621, 31107948"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.20188"	"2020-11-06"
"GENCC_000111-HGNC_30492-OMIM_606763-HP_0000007-GENCC_100002"	"HGNC:30492"	"DNAAF3"	"MONDO:0011718"	"primary ciliary dyskinesia 2"	"OMIM:606763"	"Ciliary dyskinesia, primary, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30492"	"DNAAF3"	"OMIM:606763"	"Ciliary dyskinesia, primary, 2, MIM# 606763"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"22387996, 32622824, 31186518"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.30492"	"2020-11-06"
"GENCC_000111-HGNC_21493-OMIM_615482-HP_0000007-GENCC_100002"	"HGNC:21493"	"DNAAF4"	"MONDO:0014203"	"primary ciliary dyskinesia 25"	"OMIM:615482"	"Ciliary dyskinesia, primary, 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21493"	"DNAAF4"	"OMIM:615482"	"Ciliary dyskinesia, primary, 25, MIM# 615482"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"23872636"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.21493"	"2020-11-06"
"GENCC_000111-HGNC_26013-OMIM_614874-HP_0000007-GENCC_100002"	"HGNC:26013"	"DNAAF5"	"MONDO:0013940"	"primary ciliary dyskinesia 18"	"OMIM:614874"	"Ciliary dyskinesia, primary, 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26013"	"DNAAF5"	"OMIM:614874"	"Ciliary dyskinesia, primary, 18, MIM# 614874"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"23040496, 29363216, 25232951"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.26013"	"2020-11-06"
"GENCC_000111-HGNC_2953-OMIM_618300-HP_0000007-GENCC_100002"	"HGNC:2953"	"DNAH9"	"MONDO:0032664"	"ciliary dyskinesia, primary, 40"	"OMIM:618300"	"Ciliary dyskinesia, primary, 40"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2953"	"DNAH9"	"OMIM:618300"	"Ciliary dyskinesia, primary, 40 618300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"30471717, 30471718"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.2953"	"2020-11-06"
"GENCC_000111-HGNC_30718-OMIM_617091-HP_0000007-GENCC_100004"	"HGNC:30718"	"DNAJB13"	"MONDO:0014909"	"primary ciliary dyskinesia 34"	"OMIM:617091"	"Ciliary dyskinesia, primary, 34"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30718"	"DNAJB13"	"OMIM:617091"	"Ciliary dyskinesia, primary, 34, MIM# 617091"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"27486783"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.30718"	"2020-11-06"
"GENCC_000111-HGNC_24245-OMIM_615294-HP_0000007-GENCC_100004"	"HGNC:24245"	"DRC1"	"MONDO:0014123"	"primary ciliary dyskinesia 21"	"OMIM:615294"	"Ciliary dyskinesia, primary, 21"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24245"	"DRC1"	"OMIM:615294"	"Ciliary dyskinesia, primary, 21, MIM# 615294"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"31960620, 32108610"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.24245"	"2020-11-06"
"GENCC_000111-HGNC_25430-OMIM_618254-HP_0000007-GENCC_100002"	"HGNC:25430"	"LRRC56"	"MONDO:0032637"	"ciliary dyskinesia, primary, 39"	"OMIM:618254"	"Ciliary dyskinesia, primary, 39"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25430"	"LRRC56"	"OMIM:618254"	"Ciliary dyskinesia, primary, 39 618254"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"30388400"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.25430"	"2020-11-06"
"GENCC_000111-HGNC_16725-OMIM_614935-HP_0000007-GENCC_100002"	"HGNC:16725"	"DNAAF11"	"MONDO:0013979"	"primary ciliary dyskinesia 19"	"OMIM:614935"	"Ciliary dyskinesia, primary, 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16725"	"LRRC6"	"OMIM:614935"	"Ciliary dyskinesia, primary, 19, MIM# 614935"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"23122589, 23891469, 32622824, 29511670"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.16725"	"2020-11-06"
"GENCC_000111-HGNC_14357-OMIM_616749-HP_0000007-GENCC_100002"	"HGNC:14357"	"MMP21"	"MONDO:0014762"	"heterotaxy, visceral, 7, autosomal"	"OMIM:616749"	"Heterotaxy, visceral, 7, autosomal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14357"	"MMP21"	"OMIM:616749"	"Heterotaxy, visceral, 7, autosomal,MIM# 616749"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"26429889, 26437028, 26437029"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.14357"	"2020-11-06"
"GENCC_000111-HGNC_29636-OMIM_618948-HP_0000007-GENCC_100002"	"HGNC:29636"	"MNS1"	"MONDO:0030070"	"heterotaxy, visceral, 9, autosomal, with male infertility"	"OMIM:618948"	"Heterotaxy, visceral, 9, autosomal, with male infertility"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29636"	"MNS1"	"OMIM:618948"	"Heterotaxy, visceral, 9, autosomal, with male infertility, MIM#618948"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"31534215, 30148830"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.29636"	"2020-11-06"
"GENCC_000111-HGNC_16473-OMIM_610852-HP_0000007-GENCC_100004"	"HGNC:16473"	"NME8"	"MONDO:0012571"	"primary ciliary dyskinesia 6"	"OMIM:610852"	"?Ciliary dyskinesia, primary, 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16473"	"NME8"	"OMIM:610852"	"Ciliary dyskinesia, primary, 6, MIM# 610852"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"17360648, 31966386"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.16473"	"2020-11-06"
"GENCC_000111-HGNC_7865-OMIM_270100-HP_0000006-GENCC_100005"	"HGNC:7865"	"NODAL"	"MONDO:0010029"	"situs inversus"	"OMIM:270100"	"Heterotaxy, visceral, 5"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7865"	"NODAL"	"OMIM:270100"	"Heterotaxy, visceral, 5 (MIM#270100)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100005"	"Disputed"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"9354794, 19064609"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.7865"	"2020-11-06"
"GENCC_000111-HGNC_18053-OMIM_617205-HP_0000007-GENCC_100002"	"HGNC:18053"	"PKD1L1"	"MONDO:0014967"	"heterotaxy, visceral, 8, autosomal"	"OMIM:617205"	"Heterotaxy, visceral, 8, autosomal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18053"	"PKD1L1"	"OMIM:617205"	"Heterotaxy, visceral, 8, autosomal (MIM#617205)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"27616478, 30664273, 20080492, 31026592"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.18053"	"2020-11-06"
"GENCC_000111-HGNC_11212-OMIM_615505-HP_0000007-GENCC_100002"	"HGNC:11212"	"SPAG1"	"MONDO:0014216"	"primary ciliary dyskinesia 28"	"OMIM:615505"	"Ciliary dyskinesia, primary, 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11212"	"SPAG1"	"OMIM:615505"	"Ciliary dyskinesia, primary, 28 (MIM#615505)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"24055112, 32622824, 32502479"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.11212"	"2020-11-06"
"GENCC_000111-HGNC_19412-OMIM_615444-HP_0000007-GENCC_100002"	"HGNC:19412"	"ZMYND10"	"MONDO:0014192"	"primary ciliary dyskinesia 22"	"OMIM:615444"	"Ciliary dyskinesia, primary, 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:19412"	"ZMYND10"	"OMIM:615444"	"Ciliary dyskinesia, primary, 22, MIM#615444"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-18 00:00:00"	"https://panelapp.agha.umccr.org/panels/108/"	""	"23891471, 23891469"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.108.19412"	"2020-11-06"
"GENCC_000111-HGNC_143-OMIM_612098-HP_0000006-GENCC_100002"	"HGNC:143"	"ACTC1"	"MONDO:0012799"	"hypertrophic cardiomyopathy 11"	"OMIM:612098"	"Cardiomyopathy, hypertrophic, 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:143"	"ACTC1"	"OMIM:612098"	"Cardiomyopathy, hypertrophic, 11 612098"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.143"	"2020-11-06"
"GENCC_000111-HGNC_164-OMIM_612158-HP_0000006-GENCC_100003"	"HGNC:164"	"ACTN2"	"MONDO:0012808"	"dilated cardiomyopathy 1AA"	"OMIM:612158"	"Cardiomyopathy, dilated, 1AA, with or without LVNC"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:164"	"ACTN2"	"OMIM:612158"	"Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.164"	"2020-11-06"
"GENCC_000111-HGNC_1243-OMIM_617713-HP_0000007-GENCC_100002"	"HGNC:1243"	"C1QBP"	"MONDO:0054677"	"combined oxidative phosphorylation deficiency 33"	"OMIM:617713"	"Combined oxidative phosphorylation deficiency 33"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1243"	"C1QBP"	"OMIM:617713"	"Combined oxidative phosphorylation deficiency 33, MIM#617713"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"28942965"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.1243"	"2020-11-06"
"GENCC_000111-HGNC_1529-OMIM_192600-HP_0000006-GENCC_100004"	"HGNC:1529"	"CAV3"	"MONDO:0008647"	"hypertrophic cardiomyopathy 1"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1, digenic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1529"	"CAV3"	"OMIM:192600"	"Cardiomyopathy, familial hypertrophic, MIM# 192600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"14672715, 27483260, 12138167"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.1529"	"2020-11-06"
"GENCC_000111-HGNC_2472-OMIM_612124-HP_0000006-GENCC_100002"	"HGNC:2472"	"CSRP3"	"MONDO:0012804"	"hypertrophic cardiomyopathy 12"	"OMIM:612124"	"Cardiomyopathy, hypertrophic, 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2472"	"CSRP3"	"OMIM:612124"	"Cardiomyopathy, hypertrophic, 12, MIM# 612124"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"18505755, 30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.2472"	"2020-11-06"
"GENCC_000111-HGNC_3756-OMIM_617047-HP_0000006-GENCC_100002"	"HGNC:3756"	"FLNC"	"MONDO:0014883"	"hypertrophic cardiomyopathy 26"	"OMIM:617047"	"Cardiomyopathy, familial restrictive 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3756"	"FLNC"	"OMIM:617047"	"Cardiomyopathy, familial hypertrophic, 26"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"31924696, 28356264, 30411535"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.3756"	"2020-11-06"
"GENCC_000111-HGNC_14202-OMIM_613873-HP_0000006-GENCC_100003"	"HGNC:14202"	"JPH2"	"MONDO:0013474"	"hypertrophic cardiomyopathy 17"	"OMIM:613873"	"Cardiomyopathy, hypertrophic, 17"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14202"	"JPH2"	"OMIM:613873"	"Cardiomyopathy, hypertrophic, MIM#613873"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346, 17509612, 23973696, 26869393, 28393127, 30235249"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.14202"	"2020-11-06"
"GENCC_000111-HGNC_7576-OMIM_613251-HP_0000006-GENCC_100004"	"HGNC:7576"	"MYH6"	"MONDO:0013197"	"hypertrophic cardiomyopathy 14"	"OMIM:613251"	"Cardiomyopathy, hypertrophic, 14"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7576"	"MYH6"	"OMIM:613251"	"Hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.7576"	"2020-11-06"
"GENCC_000111-HGNC_7577-OMIM_192600-HP_0000006-GENCC_100002"	"HGNC:7577"	"MYH7"	"MONDO:0008647"	"hypertrophic cardiomyopathy 1"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1, digenic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7577"	"MYH7"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1, MIM# 192600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.7577"	"2020-11-06"
"GENCC_000111-HGNC_7583-OMIM_608758-HP_0000006-GENCC_100002"	"HGNC:7583"	"MYL2"	"MONDO:0012112"	"hypertrophic cardiomyopathy 10"	"OMIM:608758"	"Cardiomyopathy, hypertrophic, 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7583"	"MYL2"	"OMIM:608758"	"Cardiomyopathy, hypertrophic, 10, MIM# 608758"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.7583"	"2020-11-06"
"GENCC_000111-HGNC_7584-OMIM_608751-HP_0000006-GENCC_100002"	"HGNC:7584"	"MYL3"	"MONDO:0012111"	"hypertrophic cardiomyopathy 8"	"OMIM:608751"	"Cardiomyopathy, hypertrophic, 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7584"	"MYL3"	"OMIM:608751"	"Cardiomyopathy, hypertrophic, 8, MIM# 608751"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.7584"	"2020-11-06"
"GENCC_000111-HGNC_1330-OMIM_613838-HP_0000006-GENCC_100004"	"HGNC:1330"	"MYOZ2"	"MONDO:0013455"	"hypertrophic cardiomyopathy 16"	"OMIM:613838"	"Cardiomyopathy, hypertrophic, 16"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1330"	"MYOZ2"	"OMIM:613838"	"Cardiomyopathy, hypertrophic, 16 MIM#613838"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"17347475, 18591919, 28296734, 30681346, 22987565"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.1330"	"2020-11-06"
"GENCC_000111-HGNC_23246-OMIM_615248-HP_0000006-GENCC_100004"	"HGNC:23246"	"MYPN"	"MONDO:0014100"	"dilated cardiomyopathy 1KK"	"OMIM:615248"	"Cardiomyopathy, dilated, 1KK"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23246"	"MYPN"	"OMIM:615248"	"Cardiomyopathy, hypertrophic, 22 (MIM# 615248)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346, 20801532, 22286171"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.23246"	"2020-11-06"
"GENCC_000111-HGNC_29557-OMIM_613876-HP_0000006-GENCC_100004"	"HGNC:29557"	"NEXN"	"MONDO:0013477"	"hypertrophic cardiomyopathy 20"	"OMIM:613876"	"Cardiomyopathy, hypertrophic, 20"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29557"	"NEXN"	"OMIM:613876"	"Cardiomyopathy, hypertrophic, 20, MIM# 613876"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"20970104, 30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.29557"	"2020-11-06"
"GENCC_000111-HGNC_9080-OMIM_613874-HP_0000006-GENCC_100002"	"HGNC:9080"	"PLN"	"MONDO:0013475"	"hypertrophic cardiomyopathy 18"	"OMIM:613874"	"Cardiomyopathy, hypertrophic, 18"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9080"	"PLN"	"OMIM:613874"	"Cardiomyopathy, hypertrophic, 18 (MIM #613874)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.9080"	"2020-11-06"
"GENCC_000111-HGNC_9386-OMIM_600858-HP_0000006-GENCC_100002"	"HGNC:9386"	"PRKAG2"	"MONDO:0010946"	"hypertrophic cardiomyopathy 6"	"OMIM:600858"	"Cardiomyopathy, hypertrophic 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9386"	"PRKAG2"	"OMIM:600858"	"Cardiomyopathy, hypertrophic 6, MIM# 600858"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.9386"	"2020-11-06"
"GENCC_000111-HGNC_11610-OMIM_607487-HP_0000006-GENCC_100004"	"HGNC:11610"	"TCAP"	"MONDO:0011843"	"hypertrophic cardiomyopathy 25"	"OMIM:607487"	"Cardiomyopathy, hypertrophic, 25"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11610"	"TCAP"	"OMIM:607487"	"Cardiomyopathy, hypertrophic, 25, MIM# 607487"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"16352453, 15582318, 30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.11610"	"2020-11-06"
"GENCC_000111-HGNC_11943-OMIM_613243-HP_0000006-GENCC_100003"	"HGNC:11943"	"TNNC1"	"MONDO:0013195"	"hypertrophic cardiomyopathy 13"	"OMIM:613243"	"Cardiomyopathy, hypertrophic, 13"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11943"	"TNNC1"	"OMIM:613243"	"Cardiomyopathy, hypertrophic, 13 (MIM# 613243)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346, 11385718, 8572189, 21262074, 22815480, 26779504"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.11943"	"2020-11-06"
"GENCC_000111-HGNC_11947-OMIM_613690-HP_0000006-GENCC_100002"	"HGNC:11947"	"TNNI3"	"MONDO:0013369"	"hypertrophic cardiomyopathy 7"	"OMIM:613690"	"Cardiomyopathy, hypertrophic, 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11947"	"TNNI3"	"OMIM:613690"	"Cardiomyopathy, hypertrophic, 7, MIM# 613690"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.11947"	"2020-11-06"
"GENCC_000111-HGNC_11947-OMIM_613690-HP_0000007-GENCC_100002"	"HGNC:11947"	"TNNI3"	"MONDO:0013369"	"hypertrophic cardiomyopathy 7"	"OMIM:613690"	"Cardiomyopathy, hypertrophic, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11947"	"TNNI3"	"OMIM:613690"	"Cardiomyopathy, hypertrophic, 7, MIM# 613690"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.11947"	"2020-11-06"
"GENCC_000111-HGNC_11949-OMIM_115195-HP_0000006-GENCC_100002"	"HGNC:11949"	"TNNT2"	"MONDO:0007266"	"hypertrophic cardiomyopathy 2"	"OMIM:115195"	"Cardiomyopathy, hypertrophic, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11949"	"TNNT2"	"OMIM:115195"	"Cardiomyopathy, hypertrophic, 2, MIM# 115195"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.11949"	"2020-11-06"
"GENCC_000111-HGNC_12010-OMIM_115196-HP_0000006-GENCC_100002"	"HGNC:12010"	"TPM1"	"MONDO:0007267"	"hypertrophic cardiomyopathy 3"	"OMIM:115196"	"Cardiomyopathy, hypertrophic, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12010"	"TPM1"	"OMIM:115196"	"Cardiomyopathy, hypertrophic, 3, 115196"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"31270709, 30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.12010"	"2020-11-06"
"GENCC_000111-HGNC_12403-OMIM_613765-HP_0000006-GENCC_100003"	"HGNC:12403"	"TTN"	"MONDO:0013412"	"hypertrophic cardiomyopathy 9"	"OMIM:613765"	"Cardiomyopathy, familial hypertrophic, 9"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12403"	"TTN"	"OMIM:613765"	"Hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"27625337, 31628103"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.12403"	"2020-11-06"
"GENCC_000111-HGNC_12665-OMIM_613255-HP_0000006-GENCC_100004"	"HGNC:12665"	"VCL"	"MONDO:0013200"	"hypertrophic cardiomyopathy 15"	"OMIM:613255"	"Cardiomyopathy, hypertrophic, 15"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12665"	"VCL"	"OMIM:613255"	"Cardiomyopathy, hypertrophic, 15, MIM# 613255"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-08-06 00:00:00"	"https://panelapp.agha.umccr.org/panels/111/"	""	"17097056, 30681346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.111.12665"	"2020-11-06"
"GENCC_000113-HGNC_17110-MONDO_0019118-HP_0000007-GENCC_100004"	"HGNC:17110"	"ADAMTS18"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:17110"	"ADAMTS18"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr16-77325330-A-G?app=conditions"	"A 30-year old male, displayed a severe early-onset retinal dystrophy accompanied by an autistic disorder underwent DNA examination which revealed homozygous missense variation, namely c.T3235‚Äâ>‚ÄâC (p.C1079R) in the ADAMTS18 gene. In vivo gene knockdown performed in medaka fish confirmed both that the mutation has a pathogenic role and that the inactivation of this gene has a deleterious effect on photoreceptor cell function. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568033/"	"23356391"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_24040-MONDO_0019200-HP_0000006-GENCC_100004"	"HGNC:24040"	"ADIPOR1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:24040"	"ADIPOR1"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr1-202911222-GT-G?app=conditions"	"A heterozygous mutation in ADIPOR1 (c.929A > G) that results in an amino acid substitution (p.Y310C) was identified to co-segregate with retinitis pigmentosa in a Chinese family. The p.Y310C mutation, predicted to affect the structure and function of the protein, was confirmed to affect protein folding and its subcellular localization in vitro. In addition, knockdown of adipor1 expression in a zebrafish model with morpholino (MO) preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP. Furthermore, the knockdown phenotype was partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA."	"27655171"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_16448-MONDO_0019118-HP_0000007-GENCC_100004"	"HGNC:16448"	"ASRGL1"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:16448"	"ASRGL1"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr11-62156645-G-A?app=conditions"	"A large five-generation pedigree with early-onset recessive retinal degeneration underwent  genetic analysis which identify the p.G178R mutation in the asparaginase like-1 gene (ASRGL1), segregating with the retinal dystrophy phenotype in this pedigree. https://doi.org/10.1093/hmg/ddw113"	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_18561-MONDO_0019312-HP_0000007-GENCC_100003"	"HGNC:18561"	"BLOC1S5"	"MONDO:0019312"	"Hermansky-Pudlak syndrome"	"MONDO:0019312"	"Hermansky-Pudlak syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:18561"	"BLOC1S5"	"MONDO:0019312"	"Hermansky–Pudlak syndrome"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr6-8026638-CT-C?app=conditions"	"Two unrelated patients with distinct homozygous variants of the BLOC1S5 gene and clincal signs compatible with HPS . Functional studies support the connection. https://www.nature.com/articles/s41436-020-0867-5"	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_25114-MONDO_0000508-HP_0000007-GENCC_100004"	"HGNC:25114"	"BOD1"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:25114"	"BOD1"	"MONDO:0000508"	"Syndromic intellectual disability"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr5-173036349-G-A?app=conditions"	"A case report of an affected boy to a consanguineous parents with ID who carried novel homozygous nonsense mutation in BOD1, p.R151X. https://doi.org/10.1111/cge.13799"	"32578875"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_13862-MONDO_0021124-HP_0000007-GENCC_100003"	"HGNC:13862"	"BTG4"	"MONDO:0021124"	"female infertility"	"MONDO:0021124"	"female infertility"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:13862"	"BTG4"	"MONDO:0021124"	"female infertility"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-08-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr11-111369336-C-T?app=conditions"	"whole-exome sequencing (WES) to identify four homozygous pathogenic variants in BTG4 that are responsible for human ZCF in four independent families.  In vivo studies further demonstrated that the process of maternal mRNA decay was disrupted in the zygotes of the affected individuals. https://doi.org/10.1016/j.ajhg.2020.05.010"	"32502391"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_1615-MONDO_0018998-HP_0000007-GENCC_100004"	"HGNC:1615"	"CCT2"	"MONDO:0018998"	"Leber congenital amaurosis"	"MONDO:0018998"	"Leber congenital amaurosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:1615"	"CCT2"	"MONDO:0018998"	"Leber Congenital Amaurosis"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr12-69991513-A-C?app=conditions"	"Compound heterozygous mutation of CCT2 was found to be associated with Leber Congenital Amaurosis in a Chinese family https://doi.org/10.1038/srep33742"	"27645772"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_1859-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:1859"	"CEP250"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:1859"	"CEP250"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr20-34054860-C-T?app=conditions"	"In a consanguineous family with nonsyndromic RP DNA analysis revealed a homozygous  mutation (c.562C>T, p.R188*) in the CEP250 gene https://doi.org/10.1002/humu.23759"	"30998843"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_14214-MONDO_0100034-HP_0000006-GENCC_100002"	"HGNC:14214"	"CIC"	"MONDO:0100034"	"cerebral folate deficiency"	"MONDO:0100034"	"cerebral folate deficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:14214"	"CIC"	"MONDO:0100034"	"Cerebral folate deficiency"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Modeare"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr19-42793165-C-T?app=conditions"	"In a trio-based genetic analysis on patients with CFD and identified de-novo mutation in CIC. additioanly in a cohort of 48 CFD cases, 3 patients carried deleterious variants IN CIC http://dx.doi.org/10.1136/jmedgenet-2020-106987"	"32820034"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_19009-MONDO_0018998-HP_0000007-GENCC_100004"	"HGNC:19009"	"CLUAP1"	"MONDO:0018998"	"Leber congenital amaurosis"	"MONDO:0018998"	"Leber congenital amaurosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:19009"	"CLUAP1"	"MONDO:0018998"	"Leber Congenital Amaurosis"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr16-3573261-C-T?app=conditions"	"A homozygous nonsynonymous mutation was found in a single proband in CLUAP1, a gene required for ciliogenesis and cilia maintenance. Cluap1 knockout zebrafish exhibit photoreceptor cell death as early as 5 days after fertilization, and rescue experiments revealed that our proband’s mutation is significantly hypomorphic https://doi.org/10.1038/gim.2015.205"	"26820066"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_2904-MONDO_0005308-HP_0000006-GENCC_100004"	"HGNC:2904"	"DLG5"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:2904"	"DLG5"	"MONDO:0005308"	"multiple congenital anomalies including ciliopathy phenotypes"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr10-79613231-G-A?app=conditions"	"individuals from four unrelated families were found to have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. All of them were found to carry DLG5 variants. Knockdown of dlg5 in Xenopus embryos recapitulated many of these phenotypes and resulted in a loss of cilia in multiple tissues.  http://doi.org/10.1136/jmedgenet-2019-106805"	"32631816"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_2904-MONDO_0005308-HP_0000007-GENCC_100004"	"HGNC:2904"	"DLG5"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:2904"	"DLG5"	"MONDO:0005308"	"multiple congenital anomalies including ciliopathy phenotypes"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr10-79613231-G-A?app=conditions"	"individuals from four unrelated families were found to have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. All of them were found to carry DLG5 variants. Knockdown of dlg5 in Xenopus embryos recapitulated many of these phenotypes and resulted in a loss of cilia in multiple tissues.  http://doi.org/10.1136/jmedgenet-2019-106805"	"32631816"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_2952-MONDO_0009461-HP_0000007-GENCC_100003"	"HGNC:2952"	"DNAH8"	"MONDO:0009461"	"spermatogenic failure 5"	"MONDO:0009461"	"spermatogenic failure 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:2952"	"DNAH8"	"MONDO:0009461"	"MMAF"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-09-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr6-38834648-A-G?app=conditions"	"Homozygous DNAH8 mutation is associated with an asthenoteratozoospermia-phenotype according to this article. 3 individuals from two different cohorts carried bi alleleic or homozygous variants in the DNAH8 gene.  Additional functional studies support this evidence https://doi.org/10.1016/j.ajhg.2020.06.004"	"32619401"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_37261-MONDO_0018999-HP_0000007-GENCC_100004"	"HGNC:37261"	"DTHD1"	"MONDO:0018999"	"LCAT deficiency"	"MONDO:0018999"	"LCAT deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:37261"	"DTHD1"	"MONDO:0018999"	"Leber Congenital Amaurosis"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr4-36283382-T-C?app=conditions"	"In a family displayed an apparently novel syndromic form of RD, LCA segregated with a mild-moderate form of nonspecific muscle dystrophy. A variant of DTHD1 was found. However, the identification of this as the only variant within the shared ROH, its effect on the protein, its full segregation with the phenotype in this extended family, and its absence in a large number of controls strongly support its candidacy as the causal gene for this apparently novel LCA/muscular dystrophy syndrome. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561865/"	"23105016"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_6159-MONDO_0009833-HP_0000006-GENCC_100004"	"HGNC:6159"	"EIF6"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:6159"	"EIF6"	"MONDO:0009833"	"Shwachman–Diamond syndrome"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-09-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr20-33871990-C-A?app=conditions"	"A 6‐year‐old Chinese boy, who presented with pancytopenia, liver transaminitis with hepatosplenomegaly and developmental delay. Exome sequencing identified a novel de novo heterozygous variant in EIF6  gene. https://doi.org/10.1002/ajmg.a.61758"	"32657013"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_27609-MONDO_0032680-HP_0000007-GENCC_100004"	"HGNC:27609"	"EMC10"	"MONDO:0032680"	"global developmental delay with or without impaired intellectual development"	"MONDO:0032680"	"global developmental delay with or without impaired intellectual development"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:27609"	"EMC10"	"MONDO:0032680"	"global developmental delay with or without impaired intellectual development"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr19-50985405-G-A?app=conditions"	"a Saudi family with two individuals segregating a recessive neurodevelopmental disorder. Both of the affected individuals showed mild ID, speech delay, and GDD. Whole‚Äêexome sequencing (WES) and Sanger sequencing were performed to identify candidate genes. Further, to elucidate the functional effects of the variant, quantitative real‚Äêtime PCR (RT‚ÄêqPCR)‚Äêbased expression analysis was performed. WES revealed a homozygous splice acceptor site variant (c.679‚Äê1G>A) in EMC10 (chromosome 19q13.33) that segregated perfectly within the family. RT‚ÄêqPCR showed a substantial decrease in the relative EMC10 gene expression in the patients, indicating the pathogenicity of the identified variant.  https://onlinelibrary.wiley.com/doi/10.1111/cge.13842"	"32869858"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_23017-MONDO_0015426-HP_0000007-GENCC_100004"	"HGNC:23017"	"FAM20B"	"MONDO:0015426"	"Desbuquois dysplasia"	"MONDO:0015426"	"Desbuquois dysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:23017"	"FAM20B"	"MONDO:0015426"	"Desbuquois dysplasia"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr1-179013155-ATACCT-A?app=conditions"	"Two affected boy and girl who had mid-face hypoplasia, thoracic hypoplasia, very short stature with mesomelic shortening of the limbs, and multiple dislocations of the large joints. Molecular analyses of the girl showed compound heterozygous variants in FAM20B. https://doi.org/10.1111/cge.13530"	"30847897"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_3604-MONDO_0007275-HP_0000006-GENCC_100004"	"HGNC:3604"	"FBN2"	"MONDO:0007275"	"carpal tunnel syndrome"	"MONDO:0007275"	"carpal tunnel syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:3604"	"FBN2"	"MONDO:0007275"	"carpal tunnel syndrome"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr5-127647057-A-C?app=conditions"	"A family in which CTS occurred in subsequent generations at an unusually young age underwent DNA examination which identified a heterozygous variant (c.5009T>G; p.Phe1670Cys) in the fibrillin-2 (FBN2) gene that co-segregated with the phenotype in the family. http://dx.doi.org/10.1136/jmedgenet-2020-107085"	"32900841"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_4181-MONDO_0004183-HP_0000006-GENCC_100002"	"HGNC:4181"	"GBF1"	"MONDO:0004183"	"axonal neuropathy"	"MONDO:0004183"	"axonal neuropathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:4181"	"GBF1"	"MONDO:0004183"	"axonal neuropathy"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr10-104130142-C-T?app=conditions"	"Identification of pathogenic variants inGBF1 in four unrelated families with individuals affected by sporadic or dominant HMN/CMT2. Genomic sequencing analyses in seven affected individuals uncovered four distinct heterozygous GBF1variants, two of which occurred de novo. https://doi.org/10.1016/j.ajhg.2020.08.018"	"32937143"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_20883-MONDO_0019200-HP_0000006-GENCC_100004"	"HGNC:20883"	"GDPD1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:20883"	"GDPD1"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/sv/chr17-57291905-57518137-DUP?app=conditions"	""	"33022222"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_19980-MONDO_0005516-HP_0000007-GENCC_100004"	"HGNC:19980"	"GNPNAT1"	"MONDO:0005516"	"osteochondrodysplasia"	"MONDO:0005516"	"osteochondrodysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:19980"	"GNPNAT1"	"MONDO:0005516"	"osteochondrodysplasia"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr14-53248621-C-T?app=conditions"	"linical investigations were carried out for four affected individuals in the recruited family.  Patients presented with short stature due to extreme shortening of the proximal segments of the limbs, he also suffered from hip dysplasia and severe platyspondyly. WGS data analyses identified a homozygous missense variant c.226G>A; p.(Glu76Lys) in GNPNAT1, segregating with the disease. https://doi.org/10.1136/jmedgenet-2020-106929"	"32591345"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_9476-MONDO_0018787-HP_0000006-GENCC_100002"	"HGNC:9476"	"HTRA1"	"MONDO:0018787"	"genetic cerebral small vessel disease"	"MONDO:0018787"	"genetic cerebral small vessel disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:9476"	"HTRA1"	"MONDO:0018787"	"genetic cerebral small vessel disease"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2022-03-27 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr10-124248979-C-G?app=conditions"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2022-03-31"
"GENCC_000113-HGNC_25835-MONDO_0019625-HP_0000006-GENCC_100003"	"HGNC:25835"	"THSD4"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:25835"	"THSD4"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr15-71549000-T-A?app=conditions"	"As part of Thoracic aortic aneurysm and dissection study conducted in France, two unrelated probands were found to carry THSD4 heterozygote mutation which were considered causative. https://doi.org/10.1038/s41436-020-00947-4"	"32855533"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_14313-MONDO_0005308-HP_0000007-GENCC_100004"	"HGNC:14313"	"IFT81"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:14313"	"IFT81"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-05-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr12-110600871-G-A?app=conditions"	"In an individual with ciliopathy phenotype including retinal dystrophy and intellectual disability, a homozygous deletion of five nucleotides in IFT81 gene was found http://dx.doi.org/10.1136/jmedgenet-2014-102838"	"26275418"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_6055-MONDO_0019200-HP_0000007-GENCC_100003"	"HGNC:6055"	"IMPG1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:6055"	"IMPG1"	"MONDO:0019200"	"retinitis pigmentosa"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr6-76660278-C-T?app=conditions"	""	"32817297"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_6055-MONDO_0019200-HP_0000006-GENCC_100003"	"HGNC:6055"	"IMPG1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:6055"	"IMPG1"	"MONDO:0019200"	"retinitis pigmentosa"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr6-76660278-C-T?app=conditions"	""	"32817297"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_29110-MONDO_0018770-HP_0000007-GENCC_100004"	"HGNC:29110"	"KIAA0753"	"MONDO:0018770"	"Jeune syndrome"	"MONDO:0018770"	"Jeune syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:29110"	"KIAA0753"	"MONDO:0018770"	"Jeune syndrome"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr17-6526362-TG-T?app=conditions"	"A patient with Jeune syndrome characterized by a short-rib skeletal dysplasia underwent DNA examiantion which revealed Homozygosity for the c.943C > T sequence alteration in KIAA0753 gene. In addition previous reports of  two brothers with Joubert syndrome"	"31816441"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_6320-MONDO_0005308-HP_0000006-GENCC_100003"	"HGNC:6320"	"KIF3B"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:6320"	"KIF3B"	"MONDO:0005308"	"ciliopathy"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr20-30898328-G-C?app=conditions"	"Two unrelated families with hallmark ciliopathy phenotypes. In the first family, the proband presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly. The second family is a six-generation pedigree affected predominantly by retinitis pigmentosa. Both families were found to carry KIF3B mutation which was segregated with the disease. https://doi.org/10.1016/j.ajhg.2020.04.005"	"32386558"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_25287-MONDO_0032942-HP_0000006-GENCC_100003"	"HGNC:25287"	"LMBRD2"	"MONDO:0032942"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"MONDO:0032942"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:25287"	"LMBRD2"	"MONDO:0032942"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr5-36141210-A-G?app=conditions"	"10 individuals with a broad spectrum of neurodevelopmental phenotypes underwent DNA examination which revealed LMBRD2 gene de novo variants. http://dx.doi.org/10.1136/jmedgenet-2020-107137"	"32820033"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_6637-MONDO_0001149-HP_0000006-GENCC_100002"	"HGNC:6637"	"LMNB1"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:6637"	"LMNB1"	"MONDO:0001149"	"microcephaly"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2020-11-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr5-126140563-C-G?app=conditions"	"Examining a cohort of patients with extreme microcephaly, from the Deciphering Developmental Disorders Study, revealed three recurrent LMNB1 variants in seven individuals. In most of the cases those variants were found to be de novo. In additional study, In seven individuals with pronounced primary microcephaly DNA enalysis identified de novo mutations in LMNB1 gene."	"33033404, 32910914"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_6638-MONDO_0001149-HP_0000006-GENCC_100003"	"HGNC:6638"	"LMNB2"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:6638"	"LMNB2"	"MONDO:0001149"	"microcephaly"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-11-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr19-2434303-C-T?app=conditions"	"Examining a cohort of patients with extreme microcephaly, from the Deciphering Developmental Disorders Study. Four microcephalic individuals from the DDD cohort and one individual from the 100kGP study with the same variant in LMNB2 (NM_032737.4: c.1192G>A, p.Glu398Lys). In most of the cases this variant was found to be de novo"	"33033404"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_14511-MONDO_0004675-HP_0000007-GENCC_100004"	"HGNC:14511"	"MRPS25"	"MONDO:0004675"	"mitochondrial encephalomyopathy"	"MONDO:0004675"	"mitochondrial encephalomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:14511"	"MRPS25"	"MONDO:0004675"	"mitochondrial encephalomyopathy"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr3-15100902-G-A?app=conditions"	"A subject with dyskinetic cerebral palsy and partial agenesis of the corpus callosum and some skeletal dysplasia. Using exome sequencing, we identified a homozygous variant c.215C>T in MRPS25"	"31039582"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_7762-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:7762"	"NEUROD1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:7762"	"NEUROD1"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr2-182542864-C-T?app=conditions"	"A proband from the consanguineous autosomal recessive retinitis pigmantosa family underwent DNA examination which revealed a homozygous missense variant, c.724G>A; p.V242I, in NEUROD1 which identified as the most likely cause of disease."	"25477324"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_7941-MONDO_0014551-HP_0000006-GENCC_100004"	"HGNC:7941"	"NPPC"	"MONDO:0014551"	"short stature with nonspecific skeletal abnormalities"	"MONDO:0014551"	"short stature with nonspecific skeletal abnormalities"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:7941"	"NPPC"	"MONDO:0014551"	"short stature with nonspecific skeletal abnormalities"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr2-232790167-G-C?app=conditions"	"Two families with short stature and small hands underwent DNA examination which revealed heterozygous mutations in NPPC gene."	"28661490"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_8999-MONDO_0030045-HP_0000007-GENCC_100003"	"HGNC:8999"	"PISD"	"MONDO:0030045"	"Liberfarb syndrome"	"MONDO:0030045"	"Liberfarb syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:8999"	"PISD"	"MONDO:0030045"	"Liberfarb syndrome"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-03-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr22-32015824-TGTGGTGATAG-T?app=conditions"	"Four individuals in two unrelated but consanguineous families affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia underwent DNA examination which revealed that all f ourpatients were homozygous for a single variant inPISD, within a shared haplotype, likely due to the presence of a common ancestor for all of them approximately five generations ago."	"31263216"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_9038-MONDO_0009984-HP_0000007-GENCC_100004"	"HGNC:9038"	"PLA2G5"	"MONDO:0009984"	"late-adult onset retinitis pigmentosa"	"MONDO:0009984"	"late-adult onset retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:9038"	"PLA2G5"	"MONDO:0009984"	"late-adult onset retinitis pigmentosa"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-03-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr1-20416375-C-CG?app=conditions"	"A index patient was diagnosed with late-onset RP at the age of 88. WES revealed a homozygous PLA2G5 frameshift mutation."	"26306921"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_9056-MONDO_0016763-HP_0000007-GENCC_100004"	"HGNC:9056"	"PLCB3"	"MONDO:0016763"	"spondylometaphyseal dysplasia"	"MONDO:0016763"	"spondylometaphyseal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:9056"	"PLCB3"	"MONDO:0016763"	"spondylometaphyseal dysplasia"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-03-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr11-64031564-G-T?app=conditions"	"Two affected cusins from a consanguineous family with a new autosomal recessive (AR) SMD associated with intellectual disability and corneal dystrophy (SMDCD)  were found to carry a homozygous variant in PLCB3 gene."	"29122926"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_26658-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:26658"	"POC5"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:26658"	"POC5"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-03-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr5-75001530-ATC-A?app=conditions"	"Exome sequencing revealed a homozygous nonsense mutation [c.304_305delGA (p. D102*)] in POC5, in a patient with Retinitis pigmentosa."	"29272404"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_13998-MONDO_0007630-HP_0000006-GENCC_100004"	"HGNC:13998"	"PRDM13"	"MONDO:0007630"	"North Carolina macular dystrophy"	"MONDO:0007630"	"North Carolina macular dystrophy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:13998"	"PRDM13"	"MONDO:0007630"	"North Carolina macular dystrophy"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2019-01-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/roh/chr6-100044909-100094909?app=conditions"	"Two presumed unrelated families with North Carolina macular dystrophy (NCMD) were found to carry a a novel duplication in PRDM13 gene"	"28973654"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_18286-MONDO_0019200-HP_0000007-GENCC_100003"	"HGNC:18286"	"RAX2"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:18286"	"RAX2"	"MONDO:0019200"	"retinitis pigmentosa"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2019-09-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr19-3770838-C-CG?app=conditions"	"Biallelic RAX2 sequence and structural variants were found in five unrelated European index cases, displaying nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) https://www.nature.com/articles/s41436-018-0345-5"	"30377383"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_17283-MONDO_0012490-HP_0000007-GENCC_100002"	"HGNC:17283"	"RIMS2"	"MONDO:0012490"	"cone-rod synaptic disorder, congenital nonprogressive"	"MONDO:0012490"	"cone-rod synaptic disorder, congenital nonprogressive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:17283"	"RIMS2"	"MONDO:0012490"	"CRSD"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr8-104955112-C-T?app=conditions"	"Identification of Bi-allelic RIMS2 Variants in Seven Cases of CRSD from Four Unrelated Families. https://doi.org/10.1016/j.ajhg.2020.04.018"	"32888510"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_10303-MONDO_0016761-HP_0000006-GENCC_100003"	"HGNC:10303"	"RPL13"	"MONDO:0016761"	"spondyloepiphyseal dysplasia"	"MONDO:0016761"	"spondyloepiphyseal dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:10303"	"RPL13"	"MONDO:0016761"	"spondylo-epi-(meta)-physeal dysplasia"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-02-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr16-89628800-G-T?app=conditions"	"Four unrelated individuals with a severe bone dysplasia. The abnormalities shared by the four individuals confirm a rare form of SEMD. All individuals harbored a de novo RPL13 splice-site or missense variant."	"31630789"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_28706-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:28706"	"SAMD11"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:28706"	"SAMD11"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-02-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr1-879375-C-T?app=conditions"	"A novel homozygous nonsense mutation in SAMD11 wa found in five individuals diagnosed with adult-onset RP from two unrelated consanguineous Spanish families."	"27734943"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_19304-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:19304"	"SCAF4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:19304"	"SCAF4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr21-33076077-C-A?app=conditions"	""	"32730804"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_26406-MONDO_0015229-HP_0000007-GENCC_100004"	"HGNC:26406"	"SCLT1"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:26406"	"SCLT1"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr4-129873924-C-T?app=conditions"	"Two unrelated Japanese patients with clinical diagnoses of BBS associated with compound heterozygous SCLT1 mutation. Both paitents showed  retinitis pigmentosa."	"32253632"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_10585-MONDO_0008779-HP_0000006-GENCC_100003"	"HGNC:10585"	"SCN1A"	"MONDO:0008779"	"arthrogryposis"	"MONDO:0008779"	"arthrogryposis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:10585"	"SCN1A"	"MONDO:0008779"	"arthrogryposis"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr2-166894553-T-G?app=conditions"	"Whole-exome sequencing was performed from DNA of the index case of AMC families. Heterozygous missense variants in SCN1A (p.Leu893Phe, p.Ala989Thr, p.Ile236Thr) were identified in three patients, all three mutation occurd de novo."	"32928894"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_26535-MONDO_0004983-HP_0000007-GENCC_100004"	"HGNC:26535"	"SHOC1"	"MONDO:0004983"	"spermatogenic failure"	"MONDO:0004983"	"spermatogenic failure"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:26535"	"SHOC1"	"MONDO:0004983"	"azoospermia"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr9-114538088-AGT-A?app=conditions"	"Two Chinese families with infertility underwent DNA examination which revealed compound heterozygous loss of function variants of SHOC1 (c.C1582T:p.R528X and c.231_232del:p.L78Sfs*9, respectively) in family 1. In family 2, homozygous LoF variant in SHOC1 (c.1194delA:p.L400Cfs*7) was identified in the siblings with infertility."	"32900840"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_11033-MONDO_0015993-HP_0000007-GENCC_100004"	"HGNC:11033"	"SLC4A7"	"MONDO:0015993"	"cone-rod dystrophy"	"MONDO:0015993"	"cone-rod dystrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:11033"	"SLC4A7"	"MONDO:0015993"	"cone-rod dystrophy"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr3-27446335-T-TA?app=conditions"	"A 66-year-old male with progressive rod-cone dystrophy with varied retinal degrenagtion phenotype underwent DNA examination which revealed a homozygous frameshift mutation in SLC4A7"	"32594822"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_11256-MONDO_0019200-HP_0000006-GENCC_100004"	"HGNC:11256"	"SPP2"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:11256"	"SPP2"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-02-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr2-234967558-G-C?app=conditions"	"In a Chinese family with autosomal dominant RP, a putative pathogenic variant, p.Gly97Arg, in the gene SPP2 was identified"	"26459573"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_16466-MONDO_0009764-HP_0000006-GENCC_100002"	"HGNC:16466"	"SUFU"	"MONDO:0009764"	"ocular motor apraxia, Cogan type"	"MONDO:0009764"	"ocular motor apraxia, Cogan type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:16466"	"SUFU"	"MONDO:0009764"	"ocular motor apraxia, Cogan type"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2020-11-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr10-104263992-C-A?app=conditions"	"15 individuals from six families with a clinical diagnosis of COMA underwent exome sequancing which revealed heterozygous variants of SUFU gene."	"33024317"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_21485-MONDO_0015375-HP_0000007-GENCC_100003"	"HGNC:21485"	"TBC1D32"	"MONDO:0015375"	"orofaciodigital syndrome"	"MONDO:0015375"	"orofaciodigital syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:21485"	"TBC1D32"	"MONDO:0015375"	"orofaciodigital syndrome"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-07-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr6-121401967-G-A?app=conditions"	"Described in this paper in a homozygous patient, as well as reporting previously other reported case in another family with overlapping phenotypes, and another family with two afffected sisters. https://doi.org/10.1002/ajmg.a.61717"	"32573025"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_11623-MONDO_0018800-HP_0000007-GENCC_100002"	"HGNC:11623"	"TCF12"	"MONDO:0018800"	"Kallmann syndrome"	"MONDO:0018800"	"Kallmann syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:11623"	"TCF12"	"MONDO:0018800"	"Hypogonadism with anosmia"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr15-57523362-T-TC?app=conditions"	"13 families with an anosmic form of IGD (Kallmann syndrome) were found to carry loss-of-function mutations in TCF12 gene."	"32620954"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_11623-MONDO_0018800-HP_0000006-GENCC_100002"	"HGNC:11623"	"TCF12"	"MONDO:0018800"	"Kallmann syndrome"	"MONDO:0018800"	"Kallmann syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:11623"	"TCF12"	"MONDO:0018800"	"Hypogonadism with anosmia"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr15-57523362-T-TC?app=conditions"	"13 families with an anosmic form of IGD (Kallmann syndrome) were found to carry loss-of-function mutations in TCF12 gene."	"32620954"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_19959-MONDO_0005308-HP_0000007-GENCC_100004"	"HGNC:19959"	"TOGARAM1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:19959"	"TOGARAM1"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr14-45432726-C-T?app=conditions"	"A trio-based whole exome sequencing (WES) strategy was used to identify candidate variants in the TOGARAM1 gene. In silico, in vitro and in vivo (Caenorhabditis elegans) studies were carried out to explore the impact of mutations on protein structure and function, and relevant biological processes. Results TOGARAM1 encodes a member of the Crescerin1 family of proteins regulating microtubule dynamics. Its orthologue in C. elegans, che-12, is expressed in a subset of sensory neurons and localises in the dendritic cilium where it is required for chemosensation. Nematode lines harbouring the corresponding missense variant in TOGARAM1 were generated by CRISPR/Cas9 technology. Although chemotaxis ability on a NaCl gradient was not affected, che-12 point mutants displayed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. Finally, in vitro analysis of microtubule polymerisation in the presence of wild-type or mutant TOG2 domain revealed a faster polymerisation associated with the mutant protein, suggesting aberrant tubulin binding."	"32747439"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_12307-MONDO_0044626-HP_0000007-GENCC_100003"	"HGNC:12307"	"TRIP13"	"MONDO:0044626"	"female infertility due to oocyte meiotic arrest"	"MONDO:0044626"	"female infertility due to oocyte meiotic arrest"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:12307"	"TRIP13"	"MONDO:0044626"	"female infertility due to oocyte meiotic arrest"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100003"	"Moderate"	"2020-08-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr5-893190-A-G?app=conditions"	"Identified homozygous and compound heterozygous missense pathogenic variants in TRIP13 responsible for female infertility mainly characterized by oocyte meiotic arrest in five individuals from four independent families. In vitro and in vivo studies showed that the identified variants reduced the protein abundance of TRIP13 and caused its downstream molecule, HORMAD2, to accumulate in HeLa cells and in proband-derived lymphoblastoid cells.  https://doi.org/10.1016/j.ajhg.2020.05.001"	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_24641-MONDO_0019078-HP_0000007-GENCC_100004"	"HGNC:24641"	"VPS35L"	"MONDO:0019078"	"Ritscher-Schinzel syndrome"	"MONDO:0019078"	"Ritscher-Schinzel syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:24641"	"VPS35L"	"MONDO:0019078"	"Ritscher-Schinzel syndrome"	"HP:0000007"	"AR"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-08-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr16-19693673-G-A?app=conditions"	"Two siblings who presented clinical manifestations including cranio-cerebello-cardiac anomalies, coloboma, microphthalmia, chondrodysplasia punctata, complicated skeletal malformation, periventricular nodular heterotopia and proteinuria. Performed exome sequencing and identified compound heterozygous pathogenic variants in VPS35L. VPS35L knockout cells showed decreased autophagic function in nutrient-rich and starvation conditions, as well as following treatment with Torin 1"	"31712251"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_18326-MONDO_0019200-HP_0000006-GENCC_100004"	"HGNC:18326"	"YPEL2"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:18326"	"YPEL2"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100004"	"Limited"	"2020-10-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/sv/chr17-57291905-57518137-DUP?app=conditions"	""	"33022222"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000113-HGNC_12989-MONDO_0019719-HP_0000006-GENCC_100002"	"HGNC:12989"	"ZMYM2"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000113"	"Franklin by Genoox"	"HGNC:12989"	"ZMYM2"	"MONDO:0019719"	"Congenital anomalies of the kidney and urinary tract"	"HP:0000006"	"AD"	"GENCC:000113"	"Franklin by Genoox"	"GENCC:100002"	"Strong"	"2020-11-01 00:00:00"	"https://franklin.genoox.com/clinical-db/variant/snp/chr13-20579272-C-T?app=conditions"	"Total 14 different heterozygous loss-of-function mutations in ZMYM2 gene in 15 unrelated Congenital anomalies of the kidney and urinary tract  affected families were identified. These findings establish that loss-of-function mutations of ZMYM2 gene may cause of human CAKUT."	"32891193"	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1"	"2021-01-19"
"GENCC_000104-HGNC_3512-OMIM_215300-HP_0000006-GENCC_100002"	"HGNC:3512"	"EXT1"	"MONDO:0008977"	"chondrosarcoma"	"OMIM:215300"	"Chondrosarcoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3512"	"EXT1"	"OMIM:215300"	"CHONDROSARCOMA 215300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:31"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"23770606, 29529714, 10441575"	""	"000104.pa734.v1.11.hgnc:3512.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3513-OMIM_133701-HP_0000006-GENCC_100002"	"HGNC:3513"	"EXT2"	"MONDO:0007586"	"exostoses, multiple, type 2"	"OMIM:133701"	"Exostoses, multiple, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3513"	"EXT2"	"OMIM:133701"	"EXOSTOSES, MULTIPLE, TYPE 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:31"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"27636706, 29529714, 23770606"	""	"000104.pa734.v1.11.hgnc:3513.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7413-OMIM_112250-HP_0000006-GENCC_100002"	"HGNC:7413"	"MTAP"	"MONDO:0007205"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"OMIM:112250"	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7413"	"MTAP"	"OMIM:112250"	"DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA 112250"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:31"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"19197386, 22464254"	""	"000104.pa734.v1.11.hgnc:7413.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9949-OMIM_266280-HP_0000007-GENCC_100002"	"HGNC:9949"	"RECQL4"	"MONDO:0009955"	"rapadilino syndrome"	"OMIM:266280"	"RAPADILINO syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9949"	"RECQL4"	"OMIM:266280"	"RAPADILINO syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:32"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"12734318, 17264332, 12612652, 28338660"	""	"000104.pa734.v1.11.hgnc:9949.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9949-OMIM_268400-HP_0000007-GENCC_100002"	"HGNC:9949"	"RECQL4"	"MONDO:0016369"	"Rothmund-Thomson syndrome type 2"	"OMIM:268400"	"Rothmund-Thomson syndrome, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9949"	"RECQL4"	"OMIM:268400"	"Rothmund-Thomson syndrome, type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:32"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"12734318, 17264332, 12612652, 28338660"	""	"000104.pa734.v1.11.hgnc:9949.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9949-MONDO_0009807-HP_0000007-GENCC_100002"	"HGNC:9949"	"RECQL4"	"MONDO:0009807"	"osteosarcoma"	"MONDO:0009807"	"osteosarcoma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9949"	"RECQL4"	"MONDO:0009807"	"Osteosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:33"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"12734318, 17264332, 12612652, 28338660"	""	"000104.pa734.v1.11.hgnc:9949.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_11280-MONDO_0009807-HP_0000006-GENCC_100002"	"HGNC:11280"	"SQSTM1"	"MONDO:0009807"	"osteosarcoma"	"MONDO:0009807"	"osteosarcoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11280"	"SQSTM1"	"MONDO:0009807"	"Osteosarcoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:33"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"21437228, 11473345, 12374763"	""	"000104.pa734.v1.11.hgnc:11280.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11280-OMIM_167250-HP_0000006-GENCC_100002"	"HGNC:11280"	"SQSTM1"	"MONDO:0008176"	"Paget disease of bone 3"	"OMIM:167250"	"Paget disease of bone 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11280"	"SQSTM1"	"OMIM:167250"	"PAGET DISEASE OF BONE 3 167250"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:33"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"21437228, 11473345, 12374763"	""	"000104.pa734.v1.11.hgnc:11280.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11515-MONDO_0008978-HP_0000006-GENCC_100002"	"HGNC:11515"	"TBXT"	"MONDO:0008978"	"chordoma"	"MONDO:0008978"	"chordoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11515"	"TBXT"	"MONDO:0008978"	"Chordoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:34"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"23064415, 19801981"	""	"000104.pa734.v1.11.hgnc:11515.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11998-MONDO_0005089-HP_0000006-GENCC_100002"	"HGNC:11998"	"TP53"	"MONDO:0005089"	"sarcoma"	"MONDO:0005089"	"sarcoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11998"	"TP53"	"MONDO:0005089"	"SARCOMA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-11 13:01:34"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"27050224, 28338660"	""	"000104.pa734.v1.11.hgnc:11998.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_583-OMIM_175100-HP_0000006-GENCC_100003"	"HGNC:583"	"APC"	"MONDO:0021056"	"familial adenomatous polyposis 1"	"OMIM:175100"	"Adenomatous polyposis coli"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:583"	"APC"	"OMIM:175100"	"Gardner syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Strong"	"2021-02-11 13:01:35"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:583.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_583-MONDO_0005089-HP_0000006-GENCC_100003"	"HGNC:583"	"APC"	"MONDO:0005089"	"sarcoma"	"MONDO:0005089"	"sarcoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:583"	"APC"	"MONDO:0005089"	"SARCOMA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:35"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"27498913"	""	"000104.pa734.v1.11.hgnc:583.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_795-MONDO_0005089-HP_0000006-GENCC_100003"	"HGNC:795"	"ATM"	"MONDO:0005089"	"sarcoma"	"MONDO:0005089"	"sarcoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:795"	"ATM"	"MONDO:0005089"	"SARCOMA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:35"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"27498913, 30567006, 33503190"	""	"000104.pa734.v1.11.hgnc:795.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_882-MONDO_0005089-HP_0000006-GENCC_100003"	"HGNC:882"	"ATR"	"MONDO:0005089"	"sarcoma"	"MONDO:0005089"	"sarcoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:882"	"ATR"	"MONDO:0005089"	"SARCOMA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:35"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"27498913"	""	"000104.pa734.v1.11.hgnc:882.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1058-MONDO_0009807-HP_0000007-GENCC_100003"	"HGNC:1058"	"BLM"	"MONDO:0009807"	"osteosarcoma"	"MONDO:0009807"	"osteosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1058"	"BLM"	"MONDO:0009807"	"Osteosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:35"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"28338660"	""	"000104.pa734.v1.11.hgnc:1058.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1058-OMIM_210900-HP_0000007-GENCC_100003"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"OMIM:210900"	"Bloom syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1058"	"BLM"	"OMIM:210900"	"Bloom syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:35"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:1058.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_1101-MONDO_0005089-HP_0000006-GENCC_100003"	"HGNC:1101"	"BRCA2"	"MONDO:0005089"	"sarcoma"	"MONDO:0005089"	"sarcoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1101"	"BRCA2"	"MONDO:0005089"	"SARCOMA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:35"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"17224268, 27498913"	""	"000104.pa734.v1.11.hgnc:1101.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1149-MONDO_0005212-HP_0000007-GENCC_100003"	"HGNC:1149"	"BUB1B"	"MONDO:0005212"	"rhabdomyosarcoma"	"MONDO:0005212"	"rhabdomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1149"	"BUB1B"	"MONDO:0005212"	"Rhabdomyosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:36"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:1149.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1786-MONDO_0005212-HP_0000006-GENCC_100003"	"HGNC:1786"	"CDKN1C"	"MONDO:0005212"	"rhabdomyosarcoma"	"MONDO:0005212"	"rhabdomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1786"	"CDKN1C"	"MONDO:0005212"	"Rhabdomyosarcoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:36"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:1786.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3434-MONDO_0005089-HP_0000007-GENCC_100003"	"HGNC:3434"	"ERCC2"	"MONDO:0005089"	"sarcoma"	"MONDO:0005089"	"sarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3434"	"ERCC2"	"MONDO:0005089"	"SARCOMA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:36"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"27498913"	""	"000104.pa734.v1.11.hgnc:3434.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3700-MONDO_0005058-HP_0000006-GENCC_100003"	"HGNC:3700"	"FH"	"MONDO:0005058"	"leiomyosarcoma"	"MONDO:0005058"	"leiomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3700"	"FH"	"MONDO:0005058"	"Leiomyosarcoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:36"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:3700.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5173-MONDO_0005212-HP_0000006-GENCC_100003"	"HGNC:5173"	"HRAS"	"MONDO:0005212"	"rhabdomyosarcoma"	"MONDO:0005212"	"rhabdomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5173"	"HRAS"	"MONDO:0005212"	"Rhabdomyosarcoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:36"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:5173.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7127-MONDO_0005212-HP_0000007-GENCC_100003"	"HGNC:7127"	"MLH1"	"MONDO:0005212"	"rhabdomyosarcoma"	"MONDO:0005212"	"rhabdomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7127"	"MLH1"	"MONDO:0005212"	"Rhabdomyosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:37"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:7127.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7325-MONDO_0005212-HP_0000007-GENCC_100003"	"HGNC:7325"	"MSH2"	"MONDO:0005212"	"rhabdomyosarcoma"	"MONDO:0005212"	"rhabdomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7325"	"MSH2"	"MONDO:0005212"	"Rhabdomyosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:37"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:7325.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7329-MONDO_0005212-HP_0000007-GENCC_100003"	"HGNC:7329"	"MSH6"	"MONDO:0005212"	"rhabdomyosarcoma"	"MONDO:0005212"	"rhabdomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7329"	"MSH6"	"MONDO:0005212"	"Rhabdomyosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:37"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:7329.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7652-MONDO_0005212-HP_0000007-GENCC_100003"	"HGNC:7652"	"NBN"	"MONDO:0005212"	"rhabdomyosarcoma"	"MONDO:0005212"	"rhabdomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7652"	"NBN"	"MONDO:0005212"	"Rhabdomyosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:37"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	""	""	"000104.pa734.v1.11.hgnc:7652.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9122-MONDO_0005212-HP_0000007-GENCC_100003"	"HGNC:9122"	"PMS2"	"MONDO:0005212"	"rhabdomyosarcoma"	"MONDO:0005212"	"rhabdomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9122"	"PMS2"	"MONDO:0005212"	"Rhabdomyosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:37"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"27050224"	""	"000104.pa734.v1.11.hgnc:9122.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9588-MONDO_0005058-HP_0000007-GENCC_100003"	"HGNC:9588"	"PTEN"	"MONDO:0005058"	"leiomyosarcoma"	"MONDO:0005058"	"leiomyosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9588"	"PTEN"	"MONDO:0005058"	"Leiomyosarcoma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:37"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"28228279"	""	"000104.pa734.v1.11.hgnc:9588.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11100-MONDO_0005210-HP_0000007-GENCC_100003"	"HGNC:11100"	"SMARCA4"	"MONDO:0005210"	"uterine corpus sarcoma"	"MONDO:0005210"	"uterine corpus sarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11100"	"SMARCA4"	"MONDO:0005210"	"uterine corpus sarcoma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:37"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"31190001"	""	"000104.pa734.v1.11.hgnc:11100.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12791-MONDO_0009807-HP_0000007-GENCC_100003"	"HGNC:12791"	"WRN"	"MONDO:0009807"	"osteosarcoma"	"MONDO:0009807"	"osteosarcoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12791"	"WRN"	"MONDO:0009807"	"Osteosarcoma (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-11 13:01:37"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"28338660"	""	"000104.pa734.v1.11.hgnc:12791.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11908-MONDO_0009807-HP_0000006-GENCC_100004"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0009807"	"osteosarcoma"	"MONDO:0009807"	"osteosarcoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0009807"	"Osteosarcoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-02-11 13:01:38"	"https://panelapp.genomicsengland.co.uk/panels/734"	""	"15758393, 12673693, 11351498"	""	"000104.pa734.v1.11.hgnc:11908.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11529-OMIM_613244-HP_0000006-GENCC_100002"	"HGNC:11529"	"EPCAM"	"MONDO:0013196"	"Lynch syndrome 8"	"OMIM:613244"	"Lynch syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11529"	"EPCAM"	"OMIM:613244"	"Colorectal cancer, hereditary nonpolyposis, type 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:38"	"https://panelapp.genomicsengland.co.uk/panels/503"	""	""	""	"000104.pa503.v1.3.hgnc:11529.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7127-OMIM_609310-HP_0000006-GENCC_100002"	"HGNC:7127"	"MLH1"	"MONDO:0012249"	"Lynch syndrome 2"	"OMIM:609310"	"Lynch syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7127"	"MLH1"	"OMIM:609310"	"Colorectal cancer, hereditary nonpolyposis, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:38"	"https://panelapp.genomicsengland.co.uk/panels/503"	""	""	""	"000104.pa503.v1.3.hgnc:7127.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7325-OMIM_120435-HP_0000006-GENCC_100002"	"HGNC:7325"	"MSH2"	"MONDO:0007356"	"Lynch syndrome 1"	"OMIM:120435"	"Lynch syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7325"	"MSH2"	"OMIM:120435"	"Colorectal cancer, hereditary nonpolyposis, type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:39"	"https://panelapp.genomicsengland.co.uk/panels/503"	""	""	""	"000104.pa503.v1.3.hgnc:7325.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7329-OMIM_614350-HP_0000006-GENCC_100002"	"HGNC:7329"	"MSH6"	"MONDO:0013710"	"Lynch syndrome 5"	"OMIM:614350"	"Lynch syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7329"	"MSH6"	"OMIM:614350"	"Colorectal cancer, hereditary nonpolyposis, type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:39"	"https://panelapp.genomicsengland.co.uk/panels/503"	""	""	""	"000104.pa503.v1.3.hgnc:7329.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9122-OMIM_614337-HP_0000006-GENCC_100002"	"HGNC:9122"	"PMS2"	"MONDO:0013699"	"Lynch syndrome 4"	"OMIM:614337"	"Lynch syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9122"	"PMS2"	"OMIM:614337"	"Colorectal cancer, hereditary nonpolyposis, type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:40"	"https://panelapp.genomicsengland.co.uk/panels/503"	""	""	""	"000104.pa503.v1.3.hgnc:9122.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1100-OMIM_604370-HP_0000006-GENCC_100002"	"HGNC:1100"	"BRCA1"	"MONDO:0011450"	"breast-ovarian cancer, familial, susceptibility to, 1"	"OMIM:604370"	"{Breast-ovarian cancer, familial, 1}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1100"	"BRCA1"	"OMIM:604370"	"{BREAST-OVARIAN CANCER, FAMILIAL, 1}, 604370"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-27 13:01:40"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:1100.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1101-OMIM_612555-HP_0000006-GENCC_100002"	"HGNC:1101"	"BRCA2"	"MONDO:0012933"	"breast-ovarian cancer, familial, susceptibility to, 2"	"OMIM:612555"	"{Breast-ovarian cancer, familial, 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1101"	"BRCA2"	"OMIM:612555"	"{BREAST-OVARIAN CANCER, FAMILIAL, 2}, 612555"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-27 13:01:40"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:1101.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20473-OMIM_114480-HP_0000006-GENCC_100002"	"HGNC:20473"	"BRIP1"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20473"	"BRIP1"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-27 13:01:40"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:20473.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7127-MONDO_0008170-HP_0000006-GENCC_100002"	"HGNC:7127"	"MLH1"	"MONDO:0008170"	"ovarian cancer"	"MONDO:0008170"	"ovarian cancer"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7127"	"MLH1"	"MONDO:0008170"	"Ovarian cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-27 13:01:40"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:7127.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7325-MONDO_0008170-HP_0000006-GENCC_100002"	"HGNC:7325"	"MSH2"	"MONDO:0008170"	"ovarian cancer"	"MONDO:0008170"	"ovarian cancer"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7325"	"MSH2"	"MONDO:0008170"	"Ovarian cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-27 13:01:40"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:7325.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7329-MONDO_0008170-HP_0000006-GENCC_100002"	"HGNC:7329"	"MSH6"	"MONDO:0008170"	"ovarian cancer"	"MONDO:0008170"	"ovarian cancer"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7329"	"MSH6"	"MONDO:0008170"	"Ovarian cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-27 13:01:40"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:7329.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9820-OMIM_613399-HP_0000006-GENCC_100002"	"HGNC:9820"	"RAD51C"	"MONDO:0013253"	"breast-ovarian cancer, familial, susceptibility to, 3"	"OMIM:613399"	"{Breast-ovarian cancer, familial, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9820"	"RAD51C"	"OMIM:613399"	"{BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3}, 613399"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-27 13:01:41"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:9820.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9823-OMIM_614291-HP_0000006-GENCC_100002"	"HGNC:9823"	"RAD51D"	"MONDO:0013669"	"breast-ovarian cancer, familial, susceptibility to, 4"	"OMIM:614291"	"{Breast-ovarian cancer, familial, susceptibility to, 4}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9823"	"RAD51D"	"OMIM:614291"	"{BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4}, 614291"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-27 13:01:41"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:9823.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9122-MONDO_0008170-HP_0000006-GENCC_100003"	"HGNC:9122"	"PMS2"	"MONDO:0008170"	"ovarian cancer"	"MONDO:0008170"	"ovarian cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9122"	"PMS2"	"MONDO:0008170"	"Ovarian cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-27 13:01:42"	"https://panelapp.genomicsengland.co.uk/panels/143"	""	""	""	"000104.pa143.v2.5.hgnc:9122.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1101-OMIM_613347-HP_0000006-GENCC_100002"	"HGNC:1101"	"BRCA2"	"MONDO:0013235"	"pancreatic cancer, susceptibility to, 2"	"OMIM:613347"	"{Pancreatic cancer 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1101"	"BRCA2"	"OMIM:613347"	"{Pancreatic cancer 2}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:42"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:1101.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1787-OMIM_606719-HP_0000006-GENCC_100002"	"HGNC:1787"	"CDKN2A"	"MONDO:0011713"	"melanoma-pancreatic cancer syndrome"	"OMIM:606719"	"{Melanoma-pancreatic cancer syndrome}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1787"	"CDKN2A"	"OMIM:606719"	"{Melanoma-pancreatic cancer syndrome}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:42"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:1787.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26144-OMIM_613348-HP_0000006-GENCC_100002"	"HGNC:26144"	"PALB2"	"MONDO:0013236"	"pancreatic cancer, susceptibility to, 3"	"OMIM:613348"	"{Pancreatic cancer, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26144"	"PALB2"	"OMIM:613348"	"{Pancreatic cancer, susceptibility to, 3}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:43"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:26144.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1100-OMIM_614320-HP_0000006-GENCC_100003"	"HGNC:1100"	"BRCA1"	"MONDO:0013685"	"pancreatic cancer, susceptibility to, 4"	"OMIM:614320"	"{Pancreatic cancer, susceptibility to, 4}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1100"	"BRCA1"	"OMIM:614320"	"{Pancreatic cancer, susceptibility to, 4}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:43"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:1100.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1773-MONDO_0009831-HP_0000006-GENCC_100003"	"HGNC:1773"	"CDK4"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1773"	"CDK4"	"MONDO:0009831"	"Malignant pancreatic neoplasm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:43"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:1773.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7127-MONDO_0009831-HP_0000006-GENCC_100003"	"HGNC:7127"	"MLH1"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7127"	"MLH1"	"MONDO:0009831"	"Malignant pancreatic neoplasm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:44"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:7127.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7325-MONDO_0009831-HP_0000006-GENCC_100003"	"HGNC:7325"	"MSH2"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7325"	"MSH2"	"MONDO:0009831"	"Malignant pancreatic neoplasm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:44"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:7325.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7329-MONDO_0009831-HP_0000006-GENCC_100003"	"HGNC:7329"	"MSH6"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7329"	"MSH6"	"MONDO:0009831"	"Malignant pancreatic neoplasm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:44"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:7329.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9122-MONDO_0009831-HP_0000006-GENCC_100003"	"HGNC:9122"	"PMS2"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9122"	"PMS2"	"MONDO:0009831"	"Malignant pancreatic neoplasm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:44"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:9122.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9475-MONDO_0009831-HP_0000006-GENCC_100003"	"HGNC:9475"	"PRSS1"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9475"	"PRSS1"	"MONDO:0009831"	"Malignant pancreatic neoplasm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:44"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"30558719"	""	"000104.pa524.v1.4.hgnc:9475.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18072-OMIM_618680-HP_0000006-GENCC_100004"	"HGNC:18072"	"RABL3"	"MONDO:0032867"	"pancreatic cancer, susceptibility to, 5"	"OMIM:618680"	"{?Pancreatic cancer, susceptibility to, 5}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18072"	"RABL3"	"OMIM:618680"	"{?Pancreatic cancer, susceptibility to, 5}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-03-04 13:01:44"	"https://panelapp.genomicsengland.co.uk/panels/524"	""	"31406347"	""	"000104.pa524.v1.4.hgnc:18072.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_583-OMIM_135290-HP_0000006-GENCC_100002"	"HGNC:583"	"APC"	"MONDO:0007608"	"desmoid tumor"	"OMIM:135290"	"Desmoid disease, hereditary"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:583"	"APC"	"OMIM:135290"	"DESMOID DISEASE, HEREDITARY 135290"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:45"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:583.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_583-OMIM_175100-HP_0000006-GENCC_100002"	"HGNC:583"	"APC"	"MONDO:0021056"	"familial adenomatous polyposis 1"	"OMIM:175100"	"Adenomatous polyposis coli"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:583"	"APC"	"OMIM:175100"	"ADENOMATOUS POLYPOSIS COLI 175100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:45"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:583.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_1076-OMIM_610069-HP_0000006-GENCC_100002"	"HGNC:1076"	"BMPR1A"	"MONDO:0012405"	"polyposis syndrome, hereditary mixed, 2"	"OMIM:610069"	"Polyposis syndrome, hereditary mixed, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1076"	"BMPR1A"	"OMIM:610069"	"POLYPOSIS SYNDROME, HEREDITARY MIXED, 2, 610069"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:46"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:1076.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1076-OMIM_174900-HP_0000006-GENCC_100002"	"HGNC:1076"	"BMPR1A"	"MONDO:0008276"	"generalized juvenile polyposis/juvenile polyposis coli"	"OMIM:174900"	"Polyposis, juvenile intestinal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1076"	"BMPR1A"	"OMIM:174900"	"Polyposis, juvenile intestinal"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:46"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:1076.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_7527-OMIM_608456-HP_0000007-GENCC_100002"	"HGNC:7527"	"MUTYH"	"MONDO:0012041"	"familial adenomatous polyposis 2"	"OMIM:608456"	"Adenomas, multiple colorectal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7527"	"MUTYH"	"OMIM:608456"	"Adenomas, multiple colorectal"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:46"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:7527.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8028-OMIM_616415-HP_0000007-GENCC_100002"	"HGNC:8028"	"NTHL1"	"MONDO:0014630"	"familial adenomatous polyposis 3"	"OMIM:616415"	"Familial adenomatous polyposis 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8028"	"NTHL1"	"OMIM:616415"	"Familial adenomatous polyposis 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:47"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:8028.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9175-OMIM_612591-HP_0000006-GENCC_100002"	"HGNC:9175"	"POLD1"	"MONDO:0012953"	"colorectal cancer, susceptibility to, 10"	"OMIM:612591"	"{Colorectal cancer, susceptibility to, 10}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9175"	"POLD1"	"OMIM:612591"	"{COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}	612591"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:47"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:9175.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9177-OMIM_615083-HP_0000006-GENCC_100002"	"HGNC:9177"	"POLE"	"MONDO:0014038"	"colorectal cancer, susceptibility to, 12"	"OMIM:615083"	"{Colorectal cancer, susceptibility to, 12}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9177"	"POLE"	"OMIM:615083"	"{COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}	615083	AD"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:47"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:9177.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6770-OMIM_174900-HP_0000006-GENCC_100002"	"HGNC:6770"	"SMAD4"	"MONDO:0008276"	"generalized juvenile polyposis/juvenile polyposis coli"	"OMIM:174900"	"Polyposis, juvenile intestinal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6770"	"SMAD4"	"OMIM:174900"	"POLYPOSIS, JUVENILE INTESTINAL, 174900"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:48"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:6770.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11389-OMIM_175200-HP_0000006-GENCC_100002"	"HGNC:11389"	"STK11"	"MONDO:0008280"	"Peutz-Jeghers syndrome"	"OMIM:175200"	"Peutz-Jeghers syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11389"	"STK11"	"OMIM:175200"	"PEUTZ-JEGHERS SYNDROME 175200"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:48"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:11389.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7326-OMIM_617100-HP_0000007-GENCC_100003"	"HGNC:7326"	"MSH3"	"MONDO:0044300"	"familial adenomatous polyposis 4"	"OMIM:617100"	"Familial adenomatous polyposis 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7326"	"MSH3"	"OMIM:617100"	"Familial adenomatous polyposis 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:48"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:7326.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18505-OMIM_617108-HP_0000006-GENCC_100003"	"HGNC:18505"	"RNF43"	"MONDO:0014919"	"sessile serrated polyposis cancer syndrome"	"OMIM:617108"	"Sessile serrated polyposis cancer syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18505"	"RNF43"	"OMIM:617108"	"Sessile serrated polyposis cancer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:48"	"https://panelapp.genomicsengland.co.uk/panels/504"	""	""	""	"000104.pa504.v1.4.hgnc:18505.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_29186-MONDO_0018874-HP_0000006-GENCC_100002"	"HGNC:29186"	"ANKRD26"	"MONDO:0018874"	"acute myeloid leukemia"	"MONDO:0018874"	"acute myeloid leukemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29186"	"ANKRD26"	"MONDO:0018874"	"Acute myeloid leukemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:48"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:29186.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1833-OMIM_601626-HP_0000006-GENCC_100002"	"HGNC:1833"	"CEBPA"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1833"	"CEBPA"	"OMIM:601626"	"Leukemia, acute myeloid"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:48"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:1833.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18674-OMIM_616871-HP_0000006-GENCC_100002"	"HGNC:18674"	"DDX41"	"MONDO:0014809"	"DDX41-related hematologic malignancy predisposition syndrome"	"OMIM:616871"	"{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18674"	"DDX41"	"OMIM:616871"	"{MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES, SUSCEPTIBILITY TO}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:48"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:18674.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3495-OMIM_601626-HP_0000006-GENCC_100002"	"HGNC:3495"	"ETV6"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3495"	"ETV6"	"OMIM:601626"	"Leukemia, acute myeloid"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:48"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:3495.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4171-OMIM_601626-HP_0000006-GENCC_100002"	"HGNC:4171"	"GATA2"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4171"	"GATA2"	"OMIM:601626"	"{LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:49"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:4171.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4171-OMIM_614286-HP_0000006-GENCC_100002"	"HGNC:4171"	"GATA2"	"MONDO:0018881"	"myelodysplastic syndrome"	"OMIM:614286"	"Myelodysplastic syndrome, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4171"	"GATA2"	"OMIM:614286"	"{MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:49"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:4171.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4171-OMIM_614038-HP_0000006-GENCC_100002"	"HGNC:4171"	"GATA2"	"MONDO:0013540"	"deafness-lymphedema-leukemia syndrome"	"OMIM:614038"	"Emberger syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4171"	"GATA2"	"OMIM:614038"	"Emberger syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:49"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:4171.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_10471-OMIM_601626-HP_0000006-GENCC_100002"	"HGNC:10471"	"RUNX1"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10471"	"RUNX1"	"OMIM:601626"	"601626 LEUKEMIA, ACUTE MYELOID"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:49"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:10471.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10471-OMIM_601399-HP_0000006-GENCC_100002"	"HGNC:10471"	"RUNX1"	"MONDO:0100083"	"hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1"	"OMIM:601399"	"Platelet disorder, familial, with associated myeloid malignancy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10471"	"RUNX1"	"OMIM:601399"	"601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:10471.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11727-MONDO_0018874-HP_0000006-GENCC_100002"	"HGNC:11727"	"TERC"	"MONDO:0018874"	"acute myeloid leukemia"	"MONDO:0018874"	"acute myeloid leukemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11727"	"TERC"	"MONDO:0018874"	"Acute myeloid leukemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:11727.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11730-OMIM_601626-HP_0000006-GENCC_100002"	"HGNC:11730"	"TERT"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11730"	"TERT"	"OMIM:601626"	"601626 {LEUKEMIA, ACUTE MYELOID}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:11730.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11998-OMIM_151623-HP_0000006-GENCC_100002"	"HGNC:11998"	"TP53"	"MONDO:0007903"	"Li-Fraumeni syndrome 1"	"OMIM:151623"	"Li-Fraumeni syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11998"	"TP53"	"OMIM:151623"	"151623 LI-FRAUMENI SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:11998.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16627-MONDO_0018874-HP_0000006-GENCC_100003"	"HGNC:16627"	"CHEK2"	"MONDO:0018874"	"acute myeloid leukemia"	"MONDO:0018874"	"acute myeloid leukemia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16627"	"CHEK2"	"MONDO:0018874"	"Acute myeloid leukemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:16627.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15888-MONDO_0018874-HP_0000006-GENCC_100003"	"HGNC:15888"	"RTEL1"	"MONDO:0018874"	"acute myeloid leukemia"	"MONDO:0018874"	"acute myeloid leukemia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15888"	"RTEL1"	"MONDO:0018874"	"Acute myeloid leukemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:15888.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15888-MONDO_0018874-HP_0000007-GENCC_100003"	"HGNC:15888"	"RTEL1"	"MONDO:0018874"	"acute myeloid leukemia"	"MONDO:0018874"	"acute myeloid leukemia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15888"	"RTEL1"	"MONDO:0018874"	"Acute myeloid leukemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:15888.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_1348-OMIM_617053-HP_0000006-GENCC_100003"	"HGNC:1348"	"SAMD9"	"MONDO:0014888"	"MIRAGE syndrome"	"OMIM:617053"	"MIRAGE syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1348"	"SAMD9"	"OMIM:617053"	"Monosomy 7 myelodysplasia and leukemia syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:1348.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11303-MONDO_0018874-HP_0000006-GENCC_100003"	"HGNC:11303"	"SRP72"	"MONDO:0018874"	"acute myeloid leukemia"	"MONDO:0018874"	"acute myeloid leukemia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11303"	"SRP72"	"MONDO:0018874"	"Acute myeloid leukemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/525"	""	""	""	"000104.pa525.v1.4.hgnc:11303.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6342-OMIM_606764-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6342"	"KIT"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:50"	"https://panelapp.genomicsengland.co.uk/panels/523"	""	""	""	"000104.pa523.v1.4.hgnc:6342.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8803-OMIM_175510-HP_0000006-GENCC_100002"	"HGNC:8803"	"PDGFRA"	"MONDO:0008285"	"polyps, multiple and recurrent inflammatory fibroid, gastrointestinal"	"OMIM:175510"	"Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8803"	"PDGFRA"	"OMIM:175510"	"Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:51"	"https://panelapp.genomicsengland.co.uk/panels/523"	""	""	""	"000104.pa523.v1.4.hgnc:8803.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10681-OMIM_606864-HP_0000006-GENCC_100002"	"HGNC:10681"	"SDHB"	"MONDO:0011740"	"Carney-Stratakis syndrome"	"OMIM:606864"	"Paraganglioma and gastric stromal sarcoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10681"	"SDHB"	"OMIM:606864"	"Paraganglioma and gastric stromal sarcoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:51"	"https://panelapp.genomicsengland.co.uk/panels/523"	""	""	""	"000104.pa523.v1.4.hgnc:10681.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10681-OMIM_606764-HP_0000006-GENCC_100002"	"HGNC:10681"	"SDHB"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10681"	"SDHB"	"OMIM:606764"	"Gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:51"	"https://panelapp.genomicsengland.co.uk/panels/523"	""	""	""	"000104.pa523.v1.4.hgnc:10681.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_10682-OMIM_606864-HP_0000006-GENCC_100002"	"HGNC:10682"	"SDHC"	"MONDO:0011740"	"Carney-Stratakis syndrome"	"OMIM:606864"	"Paraganglioma and gastric stromal sarcoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10682"	"SDHC"	"OMIM:606864"	"Paraganglioma and gastric stromal sarcoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:51"	"https://panelapp.genomicsengland.co.uk/panels/523"	""	""	""	"000104.pa523.v1.4.hgnc:10682.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10682-OMIM_606764-HP_0000006-GENCC_100002"	"HGNC:10682"	"SDHC"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10682"	"SDHC"	"OMIM:606764"	"Gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:52"	"https://panelapp.genomicsengland.co.uk/panels/523"	""	""	""	"000104.pa523.v1.4.hgnc:10682.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_10683-OMIM_606864-HP_0000006-GENCC_100002"	"HGNC:10683"	"SDHD"	"MONDO:0011740"	"Carney-Stratakis syndrome"	"OMIM:606864"	"Paraganglioma and gastric stromal sarcoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10683"	"SDHD"	"OMIM:606864"	"Paraganglioma and gastric stromal sarcoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:52"	"https://panelapp.genomicsengland.co.uk/panels/523"	""	""	""	"000104.pa523.v1.4.hgnc:10683.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_950-OMIM_614327-HP_0000006-GENCC_100002"	"HGNC:950"	"BAP1"	"MONDO:0013692"	"BAP1-related tumor predisposition syndrome"	"OMIM:614327"	"Tumor predisposition syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:950"	"BAP1"	"OMIM:614327"	"Tumor predisposition syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:52"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:950.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_950-MONDO_0005086-HP_0000006-GENCC_100002"	"HGNC:950"	"BAP1"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:950"	"BAP1"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:52"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:950.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3700-OMIM_150800-HP_0000006-GENCC_100002"	"HGNC:3700"	"FH"	"MONDO:0007888"	"hereditary leiomyomatosis and renal cell cancer"	"OMIM:150800"	"Leiomyomatosis and renal cell cancer"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3700"	"FH"	"OMIM:150800"	"Leiomyomatosis and renal cell cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:52"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:3700.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_27310-OMIM_135150-HP_0000006-GENCC_100002"	"HGNC:27310"	"FLCN"	"MONDO:0007607"	"Birt-Hogg-Dube syndrome"	"OMIM:135150"	"Birt-Hogg-Dube syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:27310"	"FLCN"	"OMIM:135150"	"Birt-Hogg-Dube syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:52"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:27310.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_27310-MONDO_0005206-HP_0000006-GENCC_100002"	"HGNC:27310"	"FLCN"	"MONDO:0005206"	"renal carcinoma"	"MONDO:0005206"	"renal carcinoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:27310"	"FLCN"	"MONDO:0005206"	"Renal carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:53"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:27310.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_7029-OMIM_605074-HP_0000006-GENCC_100002"	"HGNC:7029"	"MET"	"MONDO:0017884"	"papillary renal cell carcinoma"	"OMIM:605074"	"Renal cell carcinoma, papillary, 1, familial and somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7029"	"MET"	"OMIM:605074"	"Renal cell carcinoma, papillary, 1, familial and somatic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:53"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:7029.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10681-MONDO_0005086-HP_0000006-GENCC_100002"	"HGNC:10681"	"SDHB"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10681"	"SDHB"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:53"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:10681.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10681-OMIM_115310-HP_0000006-GENCC_100002"	"HGNC:10681"	"SDHB"	"MONDO:0007273"	"paragangliomas 4"	"OMIM:115310"	"Pheochromocytoma/paraganglioma syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10681"	"SDHB"	"OMIM:115310"	"Paragangliomas 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:53"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:10681.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_12687-OMIM_193300-HP_0000006-GENCC_100002"	"HGNC:12687"	"VHL"	"MONDO:0008667"	"von Hippel-Lindau disease"	"OMIM:193300"	"{von Hippel-Lindau syndrome, modifier of}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12687"	"VHL"	"OMIM:193300"	"von Hippel-Lindau syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:53"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:12687.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12687-MONDO_0005086-HP_0000006-GENCC_100002"	"HGNC:12687"	"VHL"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12687"	"VHL"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:12687.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_1788-MONDO_0005086-HP_0000006-GENCC_100003"	"HGNC:1788"	"CDKN2B"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1788"	"CDKN2B"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:1788.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7105-MONDO_0005086-HP_0000006-GENCC_100003"	"HGNC:7105"	"MITF"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7105"	"MITF"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:7105.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9588-MONDO_0005086-HP_0000006-GENCC_100003"	"HGNC:9588"	"PTEN"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9588"	"PTEN"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:9588.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10682-MONDO_0005086-HP_0000006-GENCC_100003"	"HGNC:10682"	"SDHC"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10682"	"SDHC"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:10682.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10683-MONDO_0005086-HP_0000006-GENCC_100003"	"HGNC:10683"	"SDHD"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10683"	"SDHD"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:10683.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26038-MONDO_0005086-HP_0000006-GENCC_100003"	"HGNC:26038"	"TMEM127"	"MONDO:0005086"	"renal cell carcinoma"	"MONDO:0005086"	"renal cell carcinoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26038"	"TMEM127"	"MONDO:0005086"	"Renal cell carcinoma (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/521"	""	""	""	"000104.pa521.v1.4.hgnc:26038.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11100-OMIM_613325-HP_0000006-GENCC_100002"	"HGNC:11100"	"SMARCA4"	"MONDO:0013224"	"rhabdoid tumor predisposition syndrome 2"	"OMIM:613325"	"{Rhabdoid tumor predisposition syndrome 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11100"	"SMARCA4"	"OMIM:613325"	"{Rhabdoid tumor predisposition syndrome 2}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/600"	""	""	""	"000104.pa600.v1.4.hgnc:11100.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11103-OMIM_609322-HP_0000006-GENCC_100002"	"HGNC:11103"	"SMARCB1"	"MONDO:0012252"	"rhabdoid tumor predisposition syndrome 1"	"OMIM:609322"	"{Rhabdoid tumor predisposition syndrome 1}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11103"	"SMARCB1"	"OMIM:609322"	"{Rhabdoid tumor predisposition syndrome 1}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:01:54"	"https://panelapp.genomicsengland.co.uk/panels/600"	""	""	""	"000104.pa600.v1.4.hgnc:11103.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1442-OMIM_614916-HP_0000006-GENCC_100002"	"HGNC:1442"	"CALM1"	"MONDO:0013966"	"catecholaminergic polymorphic ventricular tachycardia 4"	"OMIM:614916"	"Ventricular tachycardia, catecholaminergic polymorphic, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1442"	"CALM1"	"OMIM:614916"	"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 (614916"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:01:55"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:1442.m1.p"	"2021-03-31"
"GENCC_000104-HGNC_1445-MONDO_0017990-HP_0000006-GENCC_100002"	"HGNC:1445"	"CALM2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1445"	"CALM2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:01:55"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:1445.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1449-OMIM_618782-HP_0000006-GENCC_100002"	"HGNC:1449"	"CALM3"	"MONDO:0032915"	"long QT syndrome 16"	"OMIM:618782"	"?Ventricular tachycardia, catecholaminergic polymorphic 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1449"	"CALM3"	"OMIM:618782"	"?VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC 6, 618782"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:01:56"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:1449.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1513-OMIM_611938-HP_0000007-GENCC_100002"	"HGNC:1513"	"CASQ2"	"MONDO:0012762"	"catecholaminergic polymorphic ventricular tachycardia 2"	"OMIM:611938"	"Ventricular tachycardia, catecholaminergic polymorphic, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1513"	"CASQ2"	"OMIM:611938"	"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (611938"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:01:56"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:1513.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10484-OMIM_604772-HP_0000006-GENCC_100002"	"HGNC:10484"	"RYR2"	"MONDO:0011484"	"catecholaminergic polymorphic ventricular tachycardia 1"	"OMIM:604772"	"Ventricular tachycardia, catecholaminergic polymorphic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10484"	"RYR2"	"OMIM:604772"	"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (604772"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:01:56"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:10484.m1.p"	"2021-03-31"
"GENCC_000104-HGNC_12261-OMIM_615441-HP_0000007-GENCC_100002"	"HGNC:12261"	"TRDN"	"MONDO:0014191"	"catecholaminergic polymorphic ventricular tachycardia 5"	"OMIM:615441"	"Cardiac arrhythmia syndrome, with or without skeletal muscle weakness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12261"	"TRDN"	"OMIM:615441"	"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (615441"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:01:57"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:12261.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_27365-OMIM_614021-HP_0000007-GENCC_100003"	"HGNC:27365"	"TECRL"	"MONDO:0013529"	"catecholaminergic polymorphic ventricular tachycardia 3"	"OMIM:614021"	"Ventricular tachycardia, catecholaminergic polymorphic, 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:27365"	"TECRL"	"OMIM:614021"	"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 614021"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-12-24 13:01:57"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:27365.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_493-MONDO_0017990-HP_0000006-GENCC_100004"	"HGNC:493"	"ANK2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:493"	"ANK2"	"MONDO:0017990"	"CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-12-24 13:01:57"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:493.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6263-MONDO_0017990-HP_0000006-GENCC_100004"	"HGNC:6263"	"KCNJ2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6263"	"KCNJ2"	"MONDO:0017990"	"CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-12-24 13:01:57"	"https://panelapp.genomicsengland.co.uk/panels/214"	""	""	""	"000104.pa214.v2.7.hgnc:6263.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6547-OMIM_143890-HP_0000006-GENCC_100002"	"HGNC:6547"	"LDLR"	"MONDO:0007750"	"hypercholesterolemia, familial, 1"	"OMIM:143890"	"Hypercholesterolemia, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6547"	"LDLR"	"OMIM:143890"	"HYPERCHOLESTEROLEMIA, FAMILIAL, 1, 143890"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:01:57"	"https://panelapp.genomicsengland.co.uk/panels/772"	""	""	""	"000104.pa772.v1.3.hgnc:6547.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_18640-OMIM_603813-HP_0000007-GENCC_100002"	"HGNC:18640"	"LDLRAP1"	"MONDO:0011374"	"hypercholesterolemia, familial, 4"	"OMIM:603813"	"Hypercholesterolemia, familial, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18640"	"LDLRAP1"	"OMIM:603813"	"HYPERCHOLESTEROLEMIA, FAMILIAL, 4, 603813"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:01:58"	"https://panelapp.genomicsengland.co.uk/panels/772"	""	""	""	"000104.pa772.v1.3.hgnc:18640.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20001-OMIM_603776-HP_0000006-GENCC_100002"	"HGNC:20001"	"PCSK9"	"MONDO:0011369"	"hypercholesterolemia, autosomal dominant, 3"	"OMIM:603776"	"Hypercholesterolemia, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20001"	"PCSK9"	"OMIM:603776"	"{LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 1}, 603776"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:01:58"	"https://panelapp.genomicsengland.co.uk/panels/772"	""	""	""	"000104.pa772.v1.3.hgnc:20001.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_10593-OMIM_601144-HP_0000006-GENCC_100002"	"HGNC:10593"	"SCN5A"	"MONDO:0011001"	"Brugada syndrome 1"	"OMIM:601144"	"Brugada syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10593"	"SCN5A"	"OMIM:601144"	"BRUGADA SYNDROME 1, 601144"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:01:58"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:10593.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6251-MONDO_0015263-HP_0000006-GENCC_100003"	"HGNC:6251"	"KCNH2"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6251"	"KCNH2"	"MONDO:0015263"	"BRUGADA/BRUGADA LIKE SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-03-02 13:01:58"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:6251.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_60-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:60"	"ABCC9"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:60"	"ABCC9"	"MONDO:0015263"	"BRUGADA SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:01:58"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:60.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_493-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:493"	"ANK2"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:493"	"ANK2"	"MONDO:0015263"	"BRUGADA/BRUGADA LIKE SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:01:58"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:493.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1390-MONDO_0012742-HP_0000006-GENCC_100004"	"HGNC:1390"	"CACNA1C"	"MONDO:0012742"	"Brugada syndrome 3"	"MONDO:0012742"	"Brugada syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1390"	"CACNA1C"	"MONDO:0012742"	"BRUGADA SYNDROME 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:01:59"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:1390.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1399-MONDO_0015263-HP_0000005-GENCC_100004"	"HGNC:1399"	"CACNA2D1"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1399"	"CACNA2D1"	"MONDO:0015263"	"BRUGADA/BRUGADA LIKE SYNDROME"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:01:59"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:1399.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1402-OMIM_611876-HP_0000005-GENCC_100004"	"HGNC:1402"	"CACNB2"	"MONDO:0012743"	"Brugada syndrome 4"	"OMIM:611876"	"Brugada syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1402"	"CACNB2"	"OMIM:611876"	"BRUGADA SYNDROME 4 (611876"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:01:59"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:1402.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1529-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:1529"	"CAV3"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1529"	"CAV3"	"MONDO:0015263"	"BRUGADA/BRUGADA LIKE SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:01:59"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:1529.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2900-MONDO_0015263-HP_0000005-GENCC_100004"	"HGNC:2900"	"DLG1"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2900"	"DLG1"	"MONDO:0015263"	"BRUGADA SYNDROME"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:00"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:2900.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28956-OMIM_611777-HP_0000005-GENCC_100004"	"HGNC:28956"	"GPD1L"	"MONDO:0012728"	"Brugada syndrome 2"	"OMIM:611777"	"Brugada syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28956"	"GPD1L"	"OMIM:611777"	"BRUGADA SYNDROME 2 (611777"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:00"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:28956.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16882-OMIM_613123-HP_0000006-GENCC_100004"	"HGNC:16882"	"HCN4"	"MONDO:0013148"	"Brugada syndrome 8"	"OMIM:613123"	"Brugada syndrome 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16882"	"HCN4"	"OMIM:613123"	"BRUGADA SYNDROME 8 (613123"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:01"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:16882.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6239-OMIM_616399-HP_0000006-GENCC_100004"	"HGNC:6239"	"KCND3"	"MONDO:0014621"	"Brugada syndrome 9"	"OMIM:616399"	"Brugada syndrome 9"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6239"	"KCND3"	"OMIM:616399"	"Brugada syndrome 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:01"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:6239.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6243-OMIM_613119-HP_0000005-GENCC_100004"	"HGNC:6243"	"KCNE3"	"MONDO:0013145"	"Brugada syndrome 6"	"OMIM:613119"	"?Brugada syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6243"	"KCNE3"	"OMIM:613119"	"?BRUGADA SYNDROME 6 (613119"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:01"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:6243.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6241-MONDO_0015263-HP_0000005-GENCC_100004"	"HGNC:6241"	"KCNE5"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6241"	"KCNE5"	"MONDO:0015263"	"BRUGADA SYNDROME"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:02"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:6241.m1.p"	"2021-03-31"
"GENCC_000104-HGNC_6269-MONDO_0015263-HP_0000005-GENCC_100004"	"HGNC:6269"	"KCNJ8"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6269"	"KCNJ8"	"MONDO:0015263"	"BRUGADA/BRUGADA LIKE SYNDROME"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:02"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:6269.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9024-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:9024"	"PKP2"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9024"	"PKP2"	"MONDO:0015263"	"BRUGADA SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:02"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:9024.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_17679-MONDO_0015263-HP_0000005-GENCC_100004"	"HGNC:17679"	"RANGRF"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17679"	"RANGRF"	"MONDO:0015263"	"BRUGADA/BRUGADA LIKE SYNDROME"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:02"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:17679.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10582-MONDO_0015263-HP_0000005-GENCC_100004"	"HGNC:10582"	"SCN10A"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10582"	"SCN10A"	"MONDO:0015263"	"BRUGADA SYNDROME"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:02"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:10582.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10586-OMIM_612838-HP_0000007-GENCC_100004"	"HGNC:10586"	"SCN1B"	"MONDO:0013015"	"Brugada syndrome 5"	"OMIM:612838"	"Brugada syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10586"	"SCN1B"	"OMIM:612838"	"BRUGADA SYNDROME 5 (612838"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:02"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:10586.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10589-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:10589"	"SCN2B"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10589"	"SCN2B"	"MONDO:0015263"	"BRUGADA SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:02"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:10589.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20665-OMIM_613120-HP_0000006-GENCC_100004"	"HGNC:20665"	"SCN3B"	"MONDO:0013146"	"Brugada syndrome 7"	"OMIM:613120"	"Brugada syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20665"	"SCN3B"	"OMIM:613120"	"BRUGADA SYNDROME 7 (613120"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:02"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:20665.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16643-MONDO_0015263-HP_0000005-GENCC_100004"	"HGNC:16643"	"SLMAP"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16643"	"SLMAP"	"MONDO:0015263"	"BRUGADA/BRUGADA LIKE SYNDROME"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:03"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:16643.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17993-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:17993"	"TRPM4"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17993"	"TRPM4"	"MONDO:0015263"	"BRUGADA SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:02:03"	"https://panelapp.genomicsengland.co.uk/panels/13"	""	""	""	"000104.pa13.v2.7.hgnc:17993.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2770-MONDO_0000465-HP_0000006-GENCC_100002"	"HGNC:2770"	"DES"	"MONDO:0000465"	"atrioventricular block"	"MONDO:0000465"	"atrioventricular block"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2770"	"DES"	"MONDO:0000465"	"atrioventricular block (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:03"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:2770.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2770-MONDO_0000465-HP_0000007-GENCC_100002"	"HGNC:2770"	"DES"	"MONDO:0000465"	"atrioventricular block"	"MONDO:0000465"	"atrioventricular block"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2770"	"DES"	"MONDO:0000465"	"atrioventricular block (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:03"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:2770.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_3331-MONDO_0000992-HP_0001417-GENCC_100002"	"HGNC:3331"	"EMD"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3331"	"EMD"	"MONDO:0000992"	"heart conduction disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:04"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:3331.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4296-OMIM_301500-HP_0001417-GENCC_100002"	"HGNC:4296"	"GLA"	"MONDO:0010526"	"Fabry disease"	"OMIM:301500"	"Fabry disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4296"	"GLA"	"OMIM:301500"	"FABRY DISEASE, CARDIAC VARIANT, 301500"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:04"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:4296.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16882-OMIM_163800-HP_0000006-GENCC_100002"	"HGNC:16882"	"HCN4"	"MONDO:0008102"	"sick sinus syndrome 2, autosomal dominant"	"OMIM:163800"	"Sick sinus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16882"	"HCN4"	"OMIM:163800"	"SICK SINUS SYNDROME 2 163800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:04"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:16882.m1.p"	"2021-03-31"
"GENCC_000104-HGNC_6501-OMIM_300257-HP_0001417-GENCC_100002"	"HGNC:6501"	"LAMP2"	"MONDO:0010281"	"Danon disease"	"OMIM:300257"	"Danon disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6501"	"LAMP2"	"OMIM:300257"	"DANON DISEASE, 300257"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:04"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:6501.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6636-MONDO_0000465-HP_0000006-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0000465"	"atrioventricular block"	"MONDO:0000465"	"atrioventricular block"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6636"	"LMNA"	"MONDO:0000465"	"atrioventricular block (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:04"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:6636.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2488-OMIM_108900-HP_0000006-GENCC_100002"	"HGNC:2488"	"NKX2-5"	"MONDO:0007173"	"atrial septal defect 7"	"OMIM:108900"	"Atrial septal defect 7, with or without AV conduction defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2488"	"NKX2-5"	"OMIM:108900"	"ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS 108900"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:04"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:2488.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9386-OMIM_194200-HP_0000006-GENCC_100002"	"HGNC:9386"	"PRKAG2"	"MONDO:0008685"	"Wolff-Parkinson-White syndrome"	"OMIM:194200"	"Wolff-Parkinson-White syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9386"	"PRKAG2"	"OMIM:194200"	"Wolff-Parkinson-White syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:05"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:9386.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10593-OMIM_113900-HP_0000006-GENCC_100002"	"HGNC:10593"	"SCN5A"	"MONDO:0007240"	"progressive familial heart block, type 1A"	"OMIM:113900"	"Heart block, nonprogressive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10593"	"SCN5A"	"OMIM:113900"	"HEART BLOCK, PROGRESSIVE, TYPE IA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:05"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:10593.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_19661-OMIM_616117-HP_0000006-GENCC_100002"	"HGNC:19661"	"TNNI3K"	"MONDO:0014500"	"atrial conduction disease"	"OMIM:616117"	"Cardiac conduction disease with or without dilated cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19661"	"TNNI3K"	"OMIM:616117"	"CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY 616117"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:06"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:19661.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12405-MONDO_0000992-HP_0000006-GENCC_100002"	"HGNC:12405"	"TTR"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12405"	"TTR"	"MONDO:0000992"	"heart conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-08-20 13:02:06"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:12405.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2016-MONDO_0000992-HP_0000006-GENCC_100003"	"HGNC:2016"	"CLCA2"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2016"	"CLCA2"	"MONDO:0000992"	"heart conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-08-20 13:02:06"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:2016.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10586-OMIM_612838-HP_0000006-GENCC_100003"	"HGNC:10586"	"SCN1B"	"MONDO:0013015"	"Brugada syndrome 5"	"OMIM:612838"	"Brugada syndrome 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10586"	"SCN1B"	"OMIM:612838"	"CARDIAC CONDUCTION DEFECT, NONSPECIFIC 612838"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-08-20 13:02:06"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:10586.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11604-MONDO_0000992-HP_0000006-GENCC_100003"	"HGNC:11604"	"TBX5"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11604"	"TBX5"	"MONDO:0000992"	"heart conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-08-20 13:02:06"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:11604.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17993-OMIM_604559-HP_0000006-GENCC_100003"	"HGNC:17993"	"TRPM4"	"MONDO:0011474"	"progressive familial heart block type IB"	"OMIM:604559"	"Progressive familial heart block, type IB"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17993"	"TRPM4"	"OMIM:604559"	"PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB 604559"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-08-20 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:17993.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_164-MONDO_0000992-HP_0000006-GENCC_100004"	"HGNC:164"	"ACTN2"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:164"	"ACTN2"	"MONDO:0000992"	"heart conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-08-20 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:164.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_493-MONDO_0000992-HP_0000006-GENCC_100004"	"HGNC:493"	"ANK2"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:493"	"ANK2"	"MONDO:0000992"	"heart conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-08-20 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:493.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3756-MONDO_0000992-HP_0000006-GENCC_100004"	"HGNC:3756"	"FLNC"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3756"	"FLNC"	"MONDO:0000992"	"heart conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-08-20 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:3756.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4279-MONDO_0000992-HP_0000006-GENCC_100004"	"HGNC:4279"	"GJA5"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4279"	"GJA5"	"MONDO:0000992"	"heart conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-08-20 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:4279.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14465-MONDO_0000992-HP_0000005-GENCC_100004"	"HGNC:14465"	"KCNK17"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14465"	"KCNK17"	"MONDO:0000992"	"heart conduction disease"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-08-20 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:14465.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11602-MONDO_0000992-HP_0000006-GENCC_100004"	"HGNC:11602"	"TBX3"	"MONDO:0000992"	"heart conduction disease"	"MONDO:0000992"	"heart conduction disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11602"	"TBX3"	"MONDO:0000992"	"heart conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-08-20 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/506"	""	""	""	"000104.pa506.v1.6.hgnc:11602.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2718-OMIM_278740-HP_0000007-GENCC_100002"	"HGNC:2718"	"DDB2"	"MONDO:0010213"	"xeroderma pigmentosum group E"	"OMIM:278740"	"Xeroderma pigmentosum, group E, DDB-negative subtype"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2718"	"DDB2"	"OMIM:278740"	"XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:2718.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3433-OMIM_610758-HP_0000007-GENCC_100002"	"HGNC:3433"	"ERCC1"	"MONDO:0012554"	"cerebrooculofacioskeletal syndrome 4"	"OMIM:610758"	"Cerebrooculofacioskeletal syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3433"	"ERCC1"	"OMIM:610758"	"CEREBROOCULOFACIOSKELETAL SYNDROME 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3433.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3434-OMIM_278730-HP_0000007-GENCC_100002"	"HGNC:3434"	"ERCC2"	"MONDO:0010212"	"xeroderma pigmentosum group D"	"OMIM:278730"	"Xeroderma pigmentosum, group D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3434"	"ERCC2"	"OMIM:278730"	"XERODERMA PIGMENTOSUM, GROUP D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3434.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3434-OMIM_601675-HP_0000007-GENCC_100002"	"HGNC:3434"	"ERCC2"	"MONDO:0011125"	"trichothiodystrophy 1, photosensitive"	"OMIM:601675"	"Trichothiodystrophy 1, photosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3434"	"ERCC2"	"OMIM:601675"	"TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:07"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3434.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3435-OMIM_610651-HP_0000007-GENCC_100002"	"HGNC:3435"	"ERCC3"	"MONDO:0012531"	"xeroderma pigmentosum group B"	"OMIM:610651"	"Xeroderma pigmentosum, group B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3435"	"ERCC3"	"OMIM:610651"	"XERODERMA PIGMENTOSUM, GROUP B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:08"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3435.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3435-OMIM_601675-HP_0000007-GENCC_100002"	"HGNC:3435"	"ERCC3"	"MONDO:0011125"	"trichothiodystrophy 1, photosensitive"	"OMIM:601675"	"Trichothiodystrophy 1, photosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3435"	"ERCC3"	"OMIM:601675"	"TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:08"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3435.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3436-OMIM_278760-HP_0000007-GENCC_100002"	"HGNC:3436"	"ERCC4"	"MONDO:0010215"	"xeroderma pigmentosum group F"	"OMIM:278760"	"Xeroderma pigmentosum, group F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3436"	"ERCC4"	"OMIM:278760"	"XERODERMA PIGMENTOSUM, GROUP F"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:08"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3436.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3437-OMIM_278780-HP_0000007-GENCC_100002"	"HGNC:3437"	"ERCC5"	"MONDO:0010216"	"xeroderma pigmentosum group G"	"OMIM:278780"	"Xeroderma pigmentosum, group G/Cockayne syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3437"	"ERCC5"	"OMIM:278780"	"XERODERMA PIGMENTOSUM, GROUP G, 278780"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:08"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3437.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3438-OMIM_133540-HP_0000007-GENCC_100002"	"HGNC:3438"	"ERCC6"	"MONDO:0019570"	"Cockayne syndrome type 2"	"OMIM:133540"	"Cockayne syndrome, type B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3438"	"ERCC6"	"OMIM:133540"	"COCKAYNE SYNDROME, TYPE B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:08"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3438.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3438-OMIM_600630-HP_0000007-GENCC_100002"	"HGNC:3438"	"ERCC6"	"MONDO:0010909"	"UV-sensitive syndrome 1"	"OMIM:600630"	"UV-sensitive syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3438"	"ERCC6"	"OMIM:600630"	"UV-SENSITIVE SYNDROME 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:08"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3438.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3439-OMIM_216400-HP_0000007-GENCC_100002"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"OMIM:216400"	"Cockayne syndrome, type A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3439"	"ERCC8"	"OMIM:216400"	"COCKAYNE SYNDROME, TYPE A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:08"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3439.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3439-OMIM_614621-HP_0000007-GENCC_100002"	"HGNC:3439"	"ERCC8"	"MONDO:0013829"	"UV-sensitive syndrome 2"	"OMIM:614621"	"UV-sensitive syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3439"	"ERCC8"	"OMIM:614621"	"UV-SENSITIVE SYNDROME 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:09"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:3439.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_21157-OMIM_616395-HP_0000007-GENCC_100002"	"HGNC:21157"	"GTF2H5"	"MONDO:0014619"	"trichothiodystrophy 3, photosensitive"	"OMIM:616395"	"Trichothiodystrophy 3, photosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21157"	"GTF2H5"	"OMIM:616395"	"TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:09"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:21157.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16002-OMIM_234050-HP_0000007-GENCC_100002"	"HGNC:16002"	"MPLKIP"	"MONDO:0021013"	"trichothiodystrophy 4, nonphotosensitive"	"OMIM:234050"	"Trichothiodystrophy 4, nonphotosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16002"	"MPLKIP"	"OMIM:234050"	"TRICHOTHIODYSTROPHY 4, PHOTOSENSITIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:09"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:16002.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9181-OMIM_278750-HP_0000007-GENCC_100002"	"HGNC:9181"	"POLH"	"MONDO:0010214"	"xeroderma pigmentosum variant type"	"OMIM:278750"	"Xeroderma pigmentosum, variant type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9181"	"POLH"	"OMIM:278750"	"XERODERMA PIGMENTOSUM, VARIANT TYPE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:09"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:9181.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12814-OMIM_278700-HP_0000007-GENCC_100002"	"HGNC:12814"	"XPA"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"OMIM:278700"	"Xeroderma pigmentosum, group A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12814"	"XPA"	"OMIM:278700"	"XERODERMA PIGMENTOSUM, GROUP A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:10"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:12814.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12816-OMIM_278720-HP_0000007-GENCC_100002"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"OMIM:278720"	"Xeroderma pigmentosum, group C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12816"	"XPC"	"OMIM:278720"	"XERODERMA PIGMENTOSUM, GROUP C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:10"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:12816.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4651-OMIM_616943-HP_0000007-GENCC_100003"	"HGNC:4651"	"GTF2E2"	"MONDO:0014841"	"trichothiodystrophy 6, nonphotosensitive"	"OMIM:616943"	"Trichothiodystrophy 6, nonphotosensitive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4651"	"GTF2E2"	"OMIM:616943"	"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:02:10"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:4651.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12974-OMIM_300953-HP_0001417-GENCC_100004"	"HGNC:12974"	"RNF113A"	"MONDO:0010495"	"trichothiodystrophy 5, nonphotosensitive"	"OMIM:300953"	"Trichothiodystrophy 5, nonphotosensitive"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12974"	"RNF113A"	"OMIM:300953"	"TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Moderate"	"2020-10-15 13:02:11"	"https://panelapp.genomicsengland.co.uk/panels/77"	""	""	""	"000104.pa77.v2.8.hgnc:12974.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16920-OMIM_618267-HP_0000007-GENCC_100002"	"HGNC:16920"	"CIB1"	"MONDO:0032644"	"epidermodysplasia verruciformis, susceptibility to, 3"	"OMIM:618267"	"{Epidermodysplasia verruciformis, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16920"	"CIB1"	"OMIM:618267"	"EPIDERMODYSPLASIA VERRUCIFORMIS 3, 618267"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:11"	"https://panelapp.genomicsengland.co.uk/panels/562"	""	"30036492"	""	"000104.pa562.v1.4.hgnc:16920.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18021-OMIM_226400-HP_0000007-GENCC_100002"	"HGNC:18021"	"TMC6"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"OMIM:226400"	"{Epidermodysplasia verruciformis, susceptibility to, 1}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18021"	"TMC6"	"OMIM:226400"	"EPIDERMODYSPLASIA VERRUCIFORMIS, 226400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:12"	"https://panelapp.genomicsengland.co.uk/panels/562"	""	"30036492"	""	"000104.pa562.v1.4.hgnc:18021.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20474-OMIM_618231-HP_0000007-GENCC_100002"	"HGNC:20474"	"TMC8"	"MONDO:0032614"	"epidermodysplasia verruciformis, susceptibility to, 2"	"OMIM:618231"	"{Epidermodysplasia verruciformis, susceptibility to, 2}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20474"	"TMC8"	"OMIM:618231"	"EPIDERMODYSPLASIA VERRUCIFORMIS 2, 618231"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:12"	"https://panelapp.genomicsengland.co.uk/panels/562"	""	"30036492"	""	"000104.pa562.v1.4.hgnc:20474.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2252-MONDO_0009176-HP_0000007-GENCC_100003"	"HGNC:2252"	"CORO1A"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2252"	"CORO1A"	"MONDO:0009176"	"EPIDERMODYSPLASIA VERRUCIFORMIS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:02:12"	"https://panelapp.genomicsengland.co.uk/panels/562"	""	""	""	"000104.pa562.v1.4.hgnc:2252.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7380-MONDO_0009176-HP_0000005-GENCC_100003"	"HGNC:7380"	"MST1"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"GENCC:100003"	"Moderate"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7380"	"MST1"	"MONDO:0009176"	"EPIDERMODYSPLASIA VERRUCIFORMIS"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Slight"	"2020-10-15 13:02:12"	"https://panelapp.genomicsengland.co.uk/panels/562"	""	""	""	"000104.pa562.v1.4.hgnc:7380.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_686-MONDO_0009176-HP_0000007-GENCC_100003"	"HGNC:686"	"RHOH"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:686"	"RHOH"	"MONDO:0009176"	"EPIDERMODYSPLASIA VERRUCIFORMIS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Slight"	"2020-10-15 13:02:12"	"https://panelapp.genomicsengland.co.uk/panels/562"	""	""	""	"000104.pa562.v1.4.hgnc:686.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13211-OMIM_169600-HP_0000006-GENCC_100002"	"HGNC:13211"	"ATP2C1"	"MONDO:0008218"	"Hailey-Hailey disease"	"OMIM:169600"	"Hailey-Hailey disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13211"	"ATP2C1"	"OMIM:169600"	"Hailey-Hailey disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:12"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:13211.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1515-OMIM_616295-HP_0000007-GENCC_100002"	"HGNC:1515"	"CAST"	"MONDO:0014574"	"peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	"OMIM:616295"	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1515"	"CAST"	"OMIM:616295"	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:13"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:1515.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1802-OMIM_270300-HP_0000007-GENCC_100002"	"HGNC:1802"	"CDSN"	"MONDO:0024548"	"peeling skin syndrome 1"	"OMIM:270300"	"Peeling skin syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1802"	"CDSN"	"OMIM:270300"	"Peeling skin syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:13"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:1802.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2194-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:2194"	"COL17A1"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2194"	"COL17A1"	"OMIM:226650"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, 226650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:14"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2194.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_131750-HP_0000006-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007549"	"generalized dominant dystrophic epidermolysis bullosa"	"OMIM:131750"	"Epidermolysis bullosa dystrophica, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:131750"	"EPIDERMOLYSIS BULLOSA DYSTROPHICA (AD, 131750"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:14"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_131850-HP_0000006-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007552"	"pretibial dystrophic epidermolysis bullosa"	"OMIM:131850"	"Epidermolysis bullosa, pretibial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:131850"	"EPIDERMOLYSIS BULLOSA, PRETIBIAL (AR,AD, 131850"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:15"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_132000-HP_0000006-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007557"	"epidermolysis bullosa with congenital localized absence of skin and deformity of nails"	"OMIM:132000"	"Epidermolysis bullosa dystrophica, Bart type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:132000"	"EBD, BART TYPE (AD, 132000"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:15"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_604129-HP_0000006-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0011398"	"dystrophic epidermolysis bullosa pruriginosa"	"OMIM:604129"	"Epidermolysis bullosa pruriginosa"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:604129"	"Epidermolysis bullosa pruriginosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:16"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_131705-HP_0000006-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007548"	"transient bullous dermolysis of the newborn"	"OMIM:131705"	"Transient bullous of the newborn"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:131705"	"TRANSIENT BULLOUS OF THE NEWBORN (AR,AD, 131705"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:16"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_131850-HP_0000007-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007552"	"pretibial dystrophic epidermolysis bullosa"	"OMIM:131850"	"Epidermolysis bullosa, pretibial"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:131850"	"EPIDERMOLYSIS BULLOSA, PRETIBIAL (AR,AD, 131850"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:16"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_226600-HP_0000007-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"OMIM:226600"	"Epidermolysis bullosa dystrophica, localisata variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:226600"	"EBD INVERSA (AR, 226600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:17"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m2.p5"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_604129-HP_0000007-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0011398"	"dystrophic epidermolysis bullosa pruriginosa"	"OMIM:604129"	"Epidermolysis bullosa pruriginosa"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:604129"	"Epidermolysis bullosa pruriginosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:17"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m2.p3"	"2021-03-31"
"GENCC_000104-HGNC_2214-OMIM_131705-HP_0000007-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007548"	"transient bullous dermolysis of the newborn"	"OMIM:131705"	"Transient bullous of the newborn"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2214"	"COL7A1"	"OMIM:131705"	"TRANSIENT BULLOUS OF THE NEWBORN (AR,AD, 131705"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:17"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2214.m2.p4"	"2021-03-31"
"GENCC_000104-HGNC_2481-OMIM_607936-HP_0000007-GENCC_100002"	"HGNC:2481"	"CSTA"	"MONDO:0011937"	"peeling skin syndrome 4"	"OMIM:607936"	"Peeling skin syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2481"	"CSTA"	"OMIM:607936"	"Peeling skin syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:17"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:2481.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1090-OMIM_615425-HP_0000007-GENCC_100002"	"HGNC:1090"	"DST"	"MONDO:0014180"	"epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"	"OMIM:615425"	"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1090"	"DST"	"OMIM:615425"	"EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, 615425"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:18"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:1090.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30578-OMIM_615028-HP_0000007-GENCC_100002"	"HGNC:30578"	"EXPH5"	"MONDO:0014014"	"epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"OMIM:615028"	"Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30578"	"EXPH5"	"OMIM:615028"	"EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, 615028"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:18"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:30578.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15889-OMIM_173650-HP_0000007-GENCC_100002"	"HGNC:15889"	"FERMT1"	"MONDO:0008260"	"Kindler syndrome"	"OMIM:173650"	"Kindler syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15889"	"FERMT1"	"OMIM:173650"	"KINDLER SYNDROME,173650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:18"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:15889.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_33276-OMIM_618084-HP_0000007-GENCC_100002"	"HGNC:33276"	"FLG2"	"MONDO:0054852"	"peeling skin syndrome 6"	"OMIM:618084"	"Peeling skin syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:33276"	"FLG2"	"OMIM:618084"	"Peeling skin syndrome 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:18"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:33276.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5961-OMIM_308300-HP_0001417-GENCC_100002"	"HGNC:5961"	"IKBKG"	"MONDO:0010631"	"incontinentia pigmenti"	"OMIM:308300"	"Incontinentia pigmenti"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5961"	"IKBKG"	"OMIM:308300"	"Incontinentia pigmenti"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:18"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:5961.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6139-OMIM_614748-HP_0000007-GENCC_100002"	"HGNC:6139"	"ITGA3"	"MONDO:0013881"	"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"OMIM:614748"	"Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6139"	"ITGA3"	"OMIM:614748"	"Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:18"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6139.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6142-OMIM_226730-HP_0000007-GENCC_100002"	"HGNC:6142"	"ITGA6"	"MONDO:0009183"	"junctional epidermolysis bullosa with pyloric atresia"	"OMIM:226730"	"Epidermolysis bullosa, junctional 5B, with pyloric atresia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6142"	"ITGA6"	"OMIM:226730"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, 226730"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:19"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6142.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6158-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:6158"	"ITGB4"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6158"	"ITGB4"	"OMIM:226650"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, 226650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:19"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6158.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6158-OMIM_226730-HP_0000007-GENCC_100002"	"HGNC:6158"	"ITGB4"	"MONDO:0009183"	"junctional epidermolysis bullosa with pyloric atresia"	"OMIM:226730"	"Epidermolysis bullosa, junctional 5B, with pyloric atresia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6158"	"ITGB4"	"OMIM:226730"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, 226730"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:19"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6158.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6207-MONDO_0019276-HP_0000007-GENCC_100002"	"HGNC:6207"	"JUP"	"MONDO:0019276"	"inherited epidermolysis bullosa"	"MONDO:0019276"	"inherited epidermolysis bullosa"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6207"	"JUP"	"MONDO:0019276"	"inherited epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:19"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6207.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25947-OMIM_617294-HP_0000006-GENCC_100002"	"HGNC:25947"	"KLHL24"	"MONDO:0015006"	"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"	"OMIM:617294"	"Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25947"	"KLHL24"	"OMIM:617294"	"Epidermolysis bullosa simplex, generalized, with scarring and hair loss"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:20"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:25947.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6416-OMIM_131800-HP_0000006-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0007551"	"epidermolysis bullosa simplex 1C, localized"	"OMIM:131800"	"Epidermolysis bullosa simplex 1C, localized"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6416"	"KRT14"	"OMIM:131800"	"EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE (AD, 131800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:20"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6416.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6416-OMIM_125595-HP_0000006-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0007445"	"dermatopathia pigmentosa reticularis"	"OMIM:125595"	"Dermatopathia pigmentosa reticularis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6416"	"KRT14"	"OMIM:125595"	"DERMATOPATHIA PIGMENTOSA RETICULARIS (AD, 125595"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:21"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6416.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6416-OMIM_161000-HP_0000006-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0008059"	"Naegeli-Franceschetti-Jadassohn syndrome"	"OMIM:161000"	"Naegeli-Franceschetti-Jadassohn syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6416"	"KRT14"	"OMIM:161000"	"NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (AD, 161000"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:21"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6416.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6416-OMIM_131900-HP_0000006-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0007554"	"epidermolysis bullosa simplex 1B, generalized intermediate"	"OMIM:131900"	"Epidermolysis bullosa simplex 1B, generalized intermediate"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6416"	"KRT14"	"OMIM:131900"	"EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE (AD, 131900"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:21"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6416.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_6416-OMIM_131760-HP_0000006-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0007550"	"epidermolysis bullosa simplex 1A, generalized severe"	"OMIM:131760"	"Epidermolysis bullosa simplex 1A, generalized severe"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6416"	"KRT14"	"OMIM:131760"	"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (AD, 131760"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:22"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6416.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_6416-OMIM_601001-HP_0000007-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0010976"	"epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	"OMIM:601001"	"Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6416"	"KRT14"	"OMIM:601001"	"EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1 (AR, 601001"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:22"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6416.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_6442-OMIM_131760-HP_0000006-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0007550"	"epidermolysis bullosa simplex 1A, generalized severe"	"OMIM:131760"	"Epidermolysis bullosa simplex 1A, generalized severe"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6442"	"KRT5"	"OMIM:131760"	"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, 131760"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:22"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6442.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6442-OMIM_131900-HP_0000006-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0007554"	"epidermolysis bullosa simplex 1B, generalized intermediate"	"OMIM:131900"	"Epidermolysis bullosa simplex 1B, generalized intermediate"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6442"	"KRT5"	"OMIM:131900"	"EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, 131900"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:22"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6442.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6442-OMIM_131960-HP_0000006-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0007556"	"epidermolysis bullosa simplex 2F, with mottled pigmentation"	"OMIM:131960"	"Epidermolysis bullosa simplex 2F, with mottled pigmentation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6442"	"KRT5"	"OMIM:131960"	"Epidermolysis bullosa simplex-MP"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:23"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6442.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_6442-OMIM_131800-HP_0000006-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0007551"	"epidermolysis bullosa simplex 1C, localized"	"OMIM:131800"	"Epidermolysis bullosa simplex 1C, localized"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6442"	"KRT5"	"OMIM:131800"	"EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, 131800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:23"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6442.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_6483-OMIM_226700-HP_0000007-GENCC_100002"	"HGNC:6483"	"LAMA3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6483"	"LAMA3"	"OMIM:226700"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, 226700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:23"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6483.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6483-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:6483"	"LAMA3"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6483"	"LAMA3"	"OMIM:226650"	"Epidermolysis bullosa, generalized atrophic benign"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:23"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6483.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6483-OMIM_245660-HP_0000007-GENCC_100002"	"HGNC:6483"	"LAMA3"	"MONDO:0009513"	"laryngo-onycho-cutaneous syndrome"	"OMIM:245660"	"Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6483"	"LAMA3"	"OMIM:245660"	"Laryngoonychocutaneous syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:24"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6483.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6490-OMIM_226700-HP_0000007-GENCC_100002"	"HGNC:6490"	"LAMB3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6490"	"LAMB3"	"OMIM:226700"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, 226700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:24"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6490.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6490-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:6490"	"LAMB3"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6490"	"LAMB3"	"OMIM:226650"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, 226650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:24"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6490.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6493-OMIM_226700-HP_0000007-GENCC_100002"	"HGNC:6493"	"LAMC2"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6493"	"LAMC2"	"OMIM:226700"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, 226700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:24"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6493.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6493-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:6493"	"LAMC2"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6493"	"LAMC2"	"OMIM:226650"	"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, 226650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:24"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:6493.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9023-OMIM_604536-HP_0000007-GENCC_100002"	"HGNC:9023"	"PKP1"	"MONDO:0011472"	"epidermolysis bullosa simplex due to plakophilin deficiency"	"OMIM:604536"	"Ectodermal dysplasia/skin fragility syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9023"	"PKP1"	"OMIM:604536"	"ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME, 604536"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:25"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:9023.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9069-OMIM_131950-HP_0000006-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0007555"	"epidermolysis bullosa simplex 5A, Ogna type"	"OMIM:131950"	"Epidermolysis bullosa simplex 5A, Ogna type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9069"	"PLEC"	"OMIM:131950"	"EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE (AD, 131950"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:25"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:9069.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9069-OMIM_226670-HP_0000007-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0009181"	"epidermolysis bullosa simplex 5B, with muscular dystrophy"	"OMIM:226670"	"Epidermolysis bullosa simplex 5B, with muscular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9069"	"PLEC"	"OMIM:226670"	"Epidermolysis bullosa simplex with muscular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:26"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:9069.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_9069-OMIM_612138-HP_0000007-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0012807"	"epidermolysis bullosa simplex 5C, with pyloric atresia"	"OMIM:612138"	"Epidermolysis bullosa simplex 5C, with pyloric atresia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9069"	"PLEC"	"OMIM:612138"	"EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (AR, 612138"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:26"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:9069.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_8952-OMIM_617115-HP_0000007-GENCC_100002"	"HGNC:8952"	"SERPINB8"	"MONDO:0014923"	"peeling skin syndrome 5"	"OMIM:617115"	"Peeling skin syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8952"	"SERPINB8"	"OMIM:617115"	"PEELING SKIN SYNDROME 5, 617115"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:27"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:8952.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17129-OMIM_201100-HP_0000007-GENCC_100002"	"HGNC:17129"	"SLC39A4"	"MONDO:0008713"	"acrodermatitis enteropathica"	"OMIM:201100"	"Acrodermatitis enteropathica"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17129"	"SLC39A4"	"OMIM:201100"	"Acrodermatitis enteropathica"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:27"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:17129.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11781-OMIM_609796-HP_0000007-GENCC_100002"	"HGNC:11781"	"TGM5"	"MONDO:0012345"	"acral peeling skin syndrome"	"OMIM:609796"	"Peeling skin syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11781"	"TGM5"	"OMIM:609796"	"PEELING SKIN SYNDROME 2, 609796"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:27"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:11781.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11781-MONDO_0012345-HP_0000007-GENCC_100002"	"HGNC:11781"	"TGM5"	"MONDO:0012345"	"acral peeling skin syndrome"	"MONDO:0012345"	"acral peeling skin syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11781"	"TGM5"	"MONDO:0012345"	"ACRAL PEELING SKIN SYDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:27"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:11781.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_1630-OMIM_609057-HP_0000007-GENCC_100003"	"HGNC:1630"	"CD151"	"MONDO:0012190"	"epidermolysis bullosa simplex 7, with nephropathy and deafness"	"OMIM:609057"	"Epidermolysis bullosa simplex 7, with nephropathy and deafness"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1630"	"CD151"	"OMIM:609057"	"NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, 609057"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:02:27"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:1630.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3037-OMIM_613102-HP_0000007-GENCC_100003"	"HGNC:3037"	"DSC3"	"MONDO:0013136"	"hereditary hypotrichosis with recurrent skin vesicles"	"OMIM:613102"	"Hypotrichosis and recurrent skin vesicles"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3037"	"DSC3"	"OMIM:613102"	"?Hypotrichosis and recurrent skin vesicles"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:02:28"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:3037.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3236-OMIM_616069-HP_0000007-GENCC_100003"	"HGNC:3236"	"EGFR"	"MONDO:0014481"	"inflammatory skin and bowel disease, neonatal, 2"	"OMIM:616069"	"Neonatal nephrocutaneous inflammatory syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3236"	"EGFR"	"OMIM:616069"	"?Inflammatory skin and bowel disease, neonatal, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:02:28"	"https://panelapp.genomicsengland.co.uk/panels/554"	""	""	""	"000104.pa554.v1.4.hgnc:3236.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1839-OMIM_615688-HP_0000007-GENCC_100002"	"HGNC:1839"	"ADA2"	"MONDO:0014306"	"vasculitis due to ADA2 deficiency"	"OMIM:615688"	"Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1839"	"ADA2"	"OMIM:615688"	"Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:29"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:1839.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_360-OMIM_240300-HP_0000007-GENCC_100002"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:360"	"AIRE"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:29"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:360.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16393-OMIM_617638-HP_0000006-GENCC_100002"	"HGNC:16393"	"CARD11"	"MONDO:0054697"	"immunodeficiency 11b with atopic dermatitis"	"OMIM:617638"	"Immunodeficiency 11B with atopic dermatitis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16393"	"CARD11"	"OMIM:617638"	"IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:29"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:16393.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16446-OMIM_173200-HP_0000006-GENCC_100002"	"HGNC:16446"	"CARD14"	"MONDO:0008251"	"familial pityriasis rubra pilaris"	"OMIM:173200"	"Pityriasis rubra pilaris"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16446"	"CARD14"	"OMIM:173200"	"PITYRIASIS RUBRA PILARIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:30"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:16446.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16446-OMIM_602723-HP_0000006-GENCC_100002"	"HGNC:16446"	"CARD14"	"MONDO:0011269"	"psoriasis 2"	"OMIM:602723"	"Psoriasis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16446"	"CARD14"	"OMIM:602723"	"Psoriasis 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:30"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:16446.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_16391-MONDO_0018335-HP_0000007-GENCC_100002"	"HGNC:16391"	"CARD9"	"MONDO:0018335"	"deep dermatophytosis"	"MONDO:0018335"	"deep dermatophytosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16391"	"CARD9"	"MONDO:0018335"	"DEEP DERMATOPHYTOSIS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:31"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:16391.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19191-OMIM_243700-HP_0000007-GENCC_100002"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"OMIM:243700"	"Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19191"	"DOCK8"	"OMIM:243700"	"HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:31"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:19191.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3631-OMIM_616631-HP_0000006-GENCC_100002"	"HGNC:3631"	"FDPS"	"MONDO:0014713"	"porokeratosis 9, multiple types"	"OMIM:616631"	"Porokeratosis 9, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3631"	"FDPS"	"OMIM:616631"	"POROKERATOSIS 9, MULTIPLE TYPES"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:31"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:3631.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4274-OMIM_104100-HP_0000006-GENCC_100002"	"HGNC:4274"	"GJA1"	"MONDO:0007083"	"autosomal dominant palmoplantar keratoderma and congenital alopecia"	"OMIM:104100"	"Palmoplantar keratoderma with congenital alopecia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4274"	"GJA1"	"OMIM:104100"	"Palmoplantar keratoderma with congenital alopecia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:32"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:4274.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4274-OMIM_617525-HP_0000006-GENCC_100002"	"HGNC:4274"	"GJA1"	"MONDO:0033013"	"erythrokeratodermia variabilis et progressiva 3"	"OMIM:617525"	"Erythrokeratodermia variabilis et progressiva 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4274"	"GJA1"	"OMIM:617525"	"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:32"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:4274.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4285-OMIM_133200-HP_0000006-GENCC_100002"	"HGNC:4285"	"GJB3"	"MONDO:0033010"	"erythrokeratodermia variabilis et progressiva 1"	"OMIM:133200"	"Erythrokeratodermia variabilis et progressiva 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4285"	"GJB3"	"OMIM:133200"	"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:32"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:4285.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4285-OMIM_133200-HP_0000007-GENCC_100002"	"HGNC:4285"	"GJB3"	"MONDO:0033010"	"erythrokeratodermia variabilis et progressiva 1"	"OMIM:133200"	"Erythrokeratodermia variabilis et progressiva 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4285"	"GJB3"	"OMIM:133200"	"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:32"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:4285.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_4286-OMIM_617524-HP_0000006-GENCC_100002"	"HGNC:4286"	"GJB4"	"MONDO:0033012"	"erythrokeratodermia variabilis et progressiva 2"	"OMIM:617524"	"Erythrokeratodermia variabilis et progressiva 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4286"	"GJB4"	"OMIM:617524"	"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:33"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:4286.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6000-OMIM_612852-HP_0000007-GENCC_100002"	"HGNC:6000"	"IL1RN"	"MONDO:0013021"	"sterile multifocal osteomyelitis with periostitis and pustulosis"	"OMIM:612852"	"Interleukin 1 receptor antagonist deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6000"	"IL1RN"	"OMIM:612852"	"OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:33"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:6000.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15561-OMIM_614204-HP_0000007-GENCC_100002"	"HGNC:15561"	"IL36RN"	"MONDO:0013626"	"psoriasis 14, pustular"	"OMIM:614204"	"Psoriasis 14, pustular"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15561"	"IL36RN"	"OMIM:614204"	"PSORIASIS 14, PUSTULAR"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:34"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:15561.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6342-OMIM_154800-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0007950"	"mastocytosis"	"OMIM:154800"	"Mastocytosis, systemic, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6342"	"KIT"	"OMIM:154800"	"MASTOCYTOSIS, CUTANEOUS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:34"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:6342.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6342-OMIM_172800-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0008244"	"piebaldism"	"OMIM:172800"	"Piebaldism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6342"	"KIT"	"OMIM:172800"	"PIEBALDISM"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:34"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:6342.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_7529-OMIM_614714-HP_0000006-GENCC_100002"	"HGNC:7529"	"MVD"	"MONDO:0013868"	"porokeratosis 7, multiple types"	"OMIM:614714"	"Porokeratosis 7, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7529"	"MVD"	"OMIM:614714"	"POROKERATOSIS 7, MULTIPLE TYPES"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:35"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:7529.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17091-OMIM_142690-HP_0000006-GENCC_100002"	"HGNC:17091"	"NCSTN"	"MONDO:0007728"	"acne inversa, familial, 1"	"OMIM:142690"	"Acne inversa, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17091"	"NCSTN"	"OMIM:142690"	"ACNE INVERSA, FAMILIAL, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:35"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:17091.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16400-OMIM_607115-HP_0000006-GENCC_100002"	"HGNC:16400"	"NLRP3"	"MONDO:0011776"	"CINCA syndrome"	"OMIM:607115"	"CINCA syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16400"	"NLRP3"	"OMIM:607115"	"CINCA SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:36"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:16400.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5331-OMIM_186580-HP_0000006-GENCC_100002"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"OMIM:186580"	"Blau syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5331"	"NOD2"	"OMIM:186580"	"BLAU SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:36"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:5331.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13398-OMIM_308050-HP_0001417-GENCC_100002"	"HGNC:13398"	"NSDHL"	"MONDO:0010621"	"CHILD syndrome"	"OMIM:308050"	"CHILD syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13398"	"NSDHL"	"OMIM:308050"	"CHILD SYNDROME"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:36"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:13398.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8507-OMIM_105250-HP_0000006-GENCC_100002"	"HGNC:8507"	"OSMR"	"MONDO:0024522"	"amyloidosis, primary localized cutaneous, 1"	"OMIM:105250"	"Amyloidosis, primary localized cutaneous, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8507"	"OSMR"	"OMIM:105250"	"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:36"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:8507.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30100-OMIM_613736-HP_0000006-GENCC_100002"	"HGNC:30100"	"PSENEN"	"MONDO:0013397"	"acne inversa, familial, 2"	"OMIM:613736"	"Acne inversa, familial, 2, with or without Dowling-Degos disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30100"	"PSENEN"	"OMIM:613736"	"ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:36"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:30100.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9831-OMIM_603554-HP_0000007-GENCC_100002"	"HGNC:9831"	"RAG1"	"MONDO:0011338"	"Omenn syndrome"	"OMIM:603554"	"Omenn syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9831"	"RAG1"	"OMIM:603554"	"OMENN SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:37"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:9831.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9832-OMIM_603554-HP_0000007-GENCC_100002"	"HGNC:9832"	"RAG2"	"MONDO:0011338"	"Omenn syndrome"	"OMIM:603554"	"Omenn syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9832"	"RAG2"	"OMIM:603554"	"OMENN SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:37"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:9832.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15925-OMIM_612952-HP_0000007-GENCC_100002"	"HGNC:15925"	"SAMHD1"	"MONDO:0013059"	"Aicardi-Goutieres syndrome 5"	"OMIM:612952"	"Aicardi-Goutieres syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15925"	"SAMHD1"	"OMIM:612952"	"AICARDI-GOUTIERES SYNDROME 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:37"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:15925.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_29242-OMIM_249420-HP_0000007-GENCC_100002"	"HGNC:29242"	"SH3PXD2B"	"MONDO:0009579"	"Frank-Ter Haar syndrome"	"OMIM:249420"	"Frank-ter Haar syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29242"	"SH3PXD2B"	"OMIM:249420"	"FRANK-TER HAAR SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:37"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:29242.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11364-OMIM_147060-HP_0000006-GENCC_100002"	"HGNC:11364"	"STAT3"	"MONDO:0007818"	"hyper-IgE recurrent infection syndrome 1, autosomal dominant"	"OMIM:147060"	"Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11364"	"STAT3"	"OMIM:147060"	"Hyper-IgE recurrent infection syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:38"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:11364.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11364-OMIM_615952-HP_0000006-GENCC_100002"	"HGNC:11364"	"STAT3"	"MONDO:0014414"	"STAT3-related early-onset multisystem autoimmune disease"	"OMIM:615952"	"Autoimmune disease, multisystem, infantile-onset, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11364"	"STAT3"	"OMIM:615952"	"Autoimmune disease, multisystem, infantile-onset, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:38"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:11364.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_27962-OMIM_615934-HP_0000006-GENCC_100002"	"HGNC:27962"	"STING1"	"MONDO:0014405"	"STING-associated vasculopathy with onset in infancy"	"OMIM:615934"	"STING-associated vasculopathy, infantile-onset"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:27962"	"STING1"	"OMIM:615934"	"STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:39"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:27962.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12269-OMIM_225750-HP_0000006-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0009165"	"Aicardi-Goutieres syndrome 1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12269"	"TREX1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:39"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:12269.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12269-OMIM_610448-HP_0000006-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0012500"	"chilblain lupus 1"	"OMIM:610448"	"Chilblain lupus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12269"	"TREX1"	"OMIM:610448"	"Chilblain lupus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:39"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:12269.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_12269-OMIM_225750-HP_0000007-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0009165"	"Aicardi-Goutieres syndrome 1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12269"	"TREX1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:39"	"https://panelapp.genomicsengland.co.uk/panels/565"	""	""	""	"000104.pa565.v1.7.hgnc:12269.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2584-OMIM_132700-HP_0000006-GENCC_100002"	"HGNC:2584"	"CYLD"	"MONDO:0007565"	"familial cylindromatosis"	"OMIM:132700"	"Cylindromatosis, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2584"	"CYLD"	"OMIM:132700"	"Cylindromatosis, familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:40"	"https://panelapp.genomicsengland.co.uk/panels/558"	""	""	""	"000104.pa558.v1.5.hgnc:2584.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2584-OMIM_601606-HP_0000006-GENCC_100002"	"HGNC:2584"	"CYLD"	"MONDO:0042977"	"trichoepithelioma, multiple familial, 1"	"OMIM:601606"	"Trichoepithelioma, multiple familial, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2584"	"CYLD"	"OMIM:601606"	"Trichoepithelioma, multiple familial, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:40"	"https://panelapp.genomicsengland.co.uk/panels/558"	""	""	""	"000104.pa558.v1.5.hgnc:2584.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_7127-OMIM_158320-HP_0000006-GENCC_100002"	"HGNC:7127"	"MLH1"	"MONDO:0008018"	"Muir-Torre syndrome"	"OMIM:158320"	"Muir-Torre syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7127"	"MLH1"	"OMIM:158320"	"Muir-Torre syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:41"	"https://panelapp.genomicsengland.co.uk/panels/558"	""	""	""	"000104.pa558.v1.5.hgnc:7127.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7325-OMIM_158320-HP_0000006-GENCC_100002"	"HGNC:7325"	"MSH2"	"MONDO:0008018"	"Muir-Torre syndrome"	"OMIM:158320"	"Muir-Torre syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7325"	"MSH2"	"OMIM:158320"	"Muir-Torre syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:02:41"	"https://panelapp.genomicsengland.co.uk/panels/558"	""	""	""	"000104.pa558.v1.5.hgnc:7325.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7329-MONDO_0008018-HP_0000006-GENCC_100003"	"HGNC:7329"	"MSH6"	"MONDO:0008018"	"Muir-Torre syndrome"	"MONDO:0008018"	"Muir-Torre syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7329"	"MSH6"	"MONDO:0008018"	"MUIR-TORRE SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:02:41"	"https://panelapp.genomicsengland.co.uk/panels/558"	""	""	""	"000104.pa558.v1.5.hgnc:7329.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9122-MONDO_0008018-HP_0000007-GENCC_100003"	"HGNC:9122"	"PMS2"	"MONDO:0008018"	"Muir-Torre syndrome"	"MONDO:0008018"	"Muir-Torre syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9122"	"PMS2"	"MONDO:0008018"	"MUIR-TORRE SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:02:41"	"https://panelapp.genomicsengland.co.uk/panels/558"	""	""	""	"000104.pa558.v1.5.hgnc:9122.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25662-OMIM_148600-HP_0000006-GENCC_100002"	"HGNC:25662"	"AAGAB"	"MONDO:0007858"	"palmoplantar keratoderma, punctate type 1A"	"OMIM:148600"	"Keratoderma, palmoplantar, punctate type IA"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25662"	"AAGAB"	"OMIM:148600"	"KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA, 148600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:41"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:25662.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14637-OMIM_242500-HP_0000007-GENCC_100002"	"HGNC:14637"	"ABCA12"	"MONDO:0009443"	"autosomal recessive congenital ichthyosis 4B"	"OMIM:242500"	"Ichthyosis, congenital, autosomal recessive 4B (harlequin)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14637"	"ABCA12"	"OMIM:242500"	"ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN, 242500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:42"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:14637.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14637-OMIM_601277-HP_0000007-GENCC_100002"	"HGNC:14637"	"ABCA12"	"MONDO:0011026"	"autosomal recessive congenital ichthyosis 4A"	"OMIM:601277"	"Ichthyosis, congenital, autosomal recessive 4A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14637"	"ABCA12"	"OMIM:601277"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, 601277"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:42"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:14637.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_430-MONDO_0019306-HP_0000007-GENCC_100002"	"HGNC:430"	"ALOX12B"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:430"	"ALOX12B"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:43"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:430.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_430-OMIM_242100-HP_0000007-GENCC_100002"	"HGNC:430"	"ALOX12B"	"MONDO:0009439"	"autosomal recessive congenital ichthyosis 2"	"OMIM:242100"	"Ichthyosis, congenital, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:430"	"ALOX12B"	"OMIM:242100"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, 242100 (INCLUDES PALMOPLANTAR KERATODERMA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:43"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:430.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_13743-OMIM_606545-HP_0000007-GENCC_100002"	"HGNC:13743"	"ALOXE3"	"MONDO:0011680"	"autosomal recessive congenital ichthyosis 3"	"OMIM:606545"	"Ichthyosis, congenital, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13743"	"ALOXE3"	"OMIM:606545"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, 606545"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:44"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:13743.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13743-MONDO_0019306-HP_0000007-GENCC_100002"	"HGNC:13743"	"ALOXE3"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13743"	"ALOXE3"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:44"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:13743.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_638-OMIM_600231-HP_0000006-GENCC_100002"	"HGNC:638"	"AQP5"	"MONDO:0010849"	"palmoplantar keratoderma, Bothnian type"	"OMIM:600231"	"Palmoplantar keratoderma, Bothnian type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:638"	"AQP5"	"OMIM:600231"	"PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, 600231"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:44"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:638.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23752-OMIM_615023-HP_0000007-GENCC_100002"	"HGNC:23752"	"CERS3"	"MONDO:0014010"	"autosomal recessive congenital ichthyosis 9"	"OMIM:615023"	"Ichthyosis, congenital, autosomal recessive 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23752"	"CERS3"	"OMIM:615023"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, 615023"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:44"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:23752.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2032-OMIM_607626-HP_0000007-GENCC_100002"	"HGNC:2032"	"CLDN1"	"MONDO:0011874"	"neonatal ichthyosis-sclerosing cholangitis syndrome"	"OMIM:607626"	"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2032"	"CLDN1"	"OMIM:607626"	"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:45"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:2032.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26820-OMIM_604777-HP_0000007-GENCC_100002"	"HGNC:26820"	"CYP4F22"	"MONDO:0011485"	"autosomal recessive congenital ichthyosis 5"	"OMIM:604777"	"Ichthyosis, congenital, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26820"	"CYP4F22"	"OMIM:604777"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, 604777"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:45"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:26820.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3036-OMIM_610476-HP_0000007-GENCC_100002"	"HGNC:3036"	"DSC2"	"MONDO:0012506"	"arrhythmogenic right ventricular dysplasia 11"	"OMIM:610476"	"Arrhythmogenic right ventricular dysplasia 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3036"	"DSC2"	"OMIM:610476"	"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, 610476"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:46"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3036.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3048-OMIM_148700-HP_0000006-GENCC_100002"	"HGNC:3048"	"DSG1"	"MONDO:0007859"	"palmoplantar keratoderma i, striate, focal, or diffuse"	"OMIM:148700"	"Keratosis palmoplantaris striata I, AD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3048"	"DSG1"	"OMIM:148700"	"KERATOSIS PALMOPLANTARIS STRIATA I, AD, 148700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:46"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3048.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3048-OMIM_615508-HP_0000007-GENCC_100002"	"HGNC:3048"	"DSG1"	"MONDO:0014218"	"severe dermatitis-multiple allergies-metabolic wasting syndrome"	"OMIM:615508"	"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3048"	"DSG1"	"OMIM:615508"	"ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, 615508"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:46"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3048.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_3052-OMIM_612908-HP_0000006-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0013034"	"keratosis palmoplantaris striata 2"	"OMIM:612908"	"Keratosis palmoplantaris striata II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3052"	"DSP"	"OMIM:612908"	"KERATOSIS PALMOPLANTARIS STRIATA II, 612908"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:46"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3052.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3052-OMIM_615821-HP_0000006-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0014355"	"cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis"	"OMIM:615821"	"Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3052"	"DSP"	"OMIM:615821"	"Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:47"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3052.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3052-OMIM_609638-HP_0000007-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0012323"	"lethal acantholytic epidermolysis bullosa"	"OMIM:609638"	"Epidermolysis bullosa, lethal acantholytic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3052"	"DSP"	"OMIM:609638"	"Epidermolysis bullosa, lethal acantholytic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:47"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3052.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_3052-OMIM_607655-HP_0000007-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0011882"	"skin fragility-woolly hair-palmoplantar keratoderma syndrome"	"OMIM:607655"	"OMIM:607655"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3052"	"DSP"	"OMIM:607655"	"SKIN FRAGILITY-WOOLLY HAIR SYNDROME, 607655"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:48"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3052.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_3052-OMIM_605676-HP_0000007-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"OMIM:605676"	"Cardiomyopathy, dilated, with woolly hair and keratoderma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3052"	"DSP"	"OMIM:605676"	"Cardiomyopathy, dilated, with woolly hair and keratoderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:48"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3052.m2.p3"	"2021-03-31"
"GENCC_000104-HGNC_3356-OMIM_615522-HP_0000006-GENCC_100002"	"HGNC:3356"	"ENPP1"	"MONDO:0014227"	"hypopigmentation-punctate palmoplantar keratoderma syndrome"	"OMIM:615522"	"Cole disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3356"	"ENPP1"	"OMIM:615522"	"COLE DISEASE, 615522 (INCLUDES PUNCTATE PALMOPLANTAR KERATODERMA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:48"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3356.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3748-OMIM_146700-HP_0000006-GENCC_100002"	"HGNC:3748"	"FLG"	"MONDO:0007810"	"autosomal dominant ichthyosis vulgaris"	"OMIM:146700"	"Ichthyosis vulgaris"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3748"	"FLG"	"OMIM:146700"	"Ichthyosis vulgaris"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:48"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:3748.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4284-OMIM_602540-HP_0000006-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0011245"	"ichthyosis, hystrix-like, with hearing loss"	"OMIM:602540"	"Hystrix-like ichthyosis with deafness"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4284"	"GJB2"	"OMIM:602540"	"HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, 602540"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:49"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:4284.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4284-OMIM_148350-HP_0000006-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0007852"	"palmoplantar keratoderma-deafness syndrome"	"OMIM:148350"	"Keratoderma, palmoplantar, with deafness"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4284"	"GJB2"	"OMIM:148350"	"KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, 148350"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:49"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:4284.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4284-OMIM_148210-HP_0000006-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0007850"	"autosomal dominant keratitis-ichthyosis-hearing loss syndrome"	"OMIM:148210"	"Keratitis-ichthyosis-deafness syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4284"	"GJB2"	"OMIM:148210"	"KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, 148210"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:50"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:4284.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_4284-OMIM_124500-HP_0000006-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0007422"	"keratoderma hereditarium mutilans"	"OMIM:124500"	"Vohwinkel syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4284"	"GJB2"	"OMIM:124500"	"VOHWINKEL SYNDROME, 124500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:50"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:4284.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_4284-OMIM_149200-HP_0000006-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0007866"	"Bart-Pumphrey syndrome"	"OMIM:149200"	"Bart-Pumphrey syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4284"	"GJB2"	"OMIM:149200"	"BART-PUMPHREY SYNDROME, 149200"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:51"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:4284.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_4288-OMIM_129500-HP_0000006-GENCC_100002"	"HGNC:4288"	"GJB6"	"MONDO:0007510"	"Clouston syndrome"	"OMIM:129500"	"Ectodermal dysplasia 2, Clouston type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4288"	"GJB6"	"OMIM:129500"	"ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, 129500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:51"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:4288.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6207-OMIM_601214-HP_0000007-GENCC_100002"	"HGNC:6207"	"JUP"	"MONDO:0011017"	"Naxos disease"	"OMIM:601214"	"Naxos disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6207"	"JUP"	"OMIM:601214"	"NAXOS DISEASE, 601214"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:51"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6207.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4021-OMIM_617526-HP_0000007-GENCC_100002"	"HGNC:4021"	"KDSR"	"MONDO:0033014"	"erythrokeratodermia variabilis et progressiva 4"	"OMIM:617526"	"Erythrokeratodermia variabilis et progressiva 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4021"	"KDSR"	"OMIM:617526"	"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4, 617526"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:52"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:4021.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6412-OMIM_600962-HP_0000006-GENCC_100002"	"HGNC:6412"	"KRT1"	"MONDO:0010962"	"diffuse nonepidermolytic palmoplantar keratoderma"	"OMIM:600962"	"Palmoplantar keratoderma, nonepidermolytic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6412"	"KRT1"	"OMIM:600962"	"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:52"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6412.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6412-OMIM_146590-HP_0000006-GENCC_100002"	"HGNC:6412"	"KRT1"	"MONDO:0007808"	"ichthyosis hystrix of Curth-Macklin"	"OMIM:146590"	"Ichthyosis histrix, Curth-Macklin type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6412"	"KRT1"	"OMIM:146590"	"ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, 146590"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:53"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6412.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6412-OMIM_113800-HP_0000006-GENCC_100002"	"HGNC:6412"	"KRT1"	"MONDO:0007239"	"epidermolytic ichthyosis"	"OMIM:113800"	"Epidermolytic hyperkeratosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6412"	"KRT1"	"OMIM:113800"	"EPIDERMOLYTIC HYPERKERATOSIS, 113800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:53"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6412.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_6412-OMIM_607602-HP_0000006-GENCC_100002"	"HGNC:6412"	"KRT1"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"OMIM:607602"	"Ichthyosis, annular epidermolytic 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6412"	"KRT1"	"OMIM:607602"	"ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, 607602"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:54"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6412.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_6413-OMIM_113800-HP_0000006-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0007239"	"epidermolytic ichthyosis"	"OMIM:113800"	"Epidermolytic hyperkeratosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6413"	"KRT10"	"OMIM:113800"	"EPIDERMOLYTIC HYPERKERATOSIS (EHK, 113800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:54"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6413.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6413-OMIM_609165-HP_0000006-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0012208"	"congenital reticular ichthyosiform erythroderma"	"OMIM:609165"	"Ichthyosis with confetti"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6413"	"KRT10"	"OMIM:609165"	"ICHTHYOSIS WITH CONFETTI, 609165"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:54"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6413.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6413-OMIM_607602-HP_0000006-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"OMIM:607602"	"Ichthyosis, annular epidermolytic 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6413"	"KRT10"	"OMIM:607602"	"ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, 607602"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:54"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6413.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6423-OMIM_167200-HP_0000006-GENCC_100002"	"HGNC:6423"	"KRT16"	"MONDO:0008173"	"pachyonychia congenita 1"	"OMIM:167200"	"Pachyonychia congenita 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6423"	"KRT16"	"OMIM:167200"	"Pachyonychia congenita 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:55"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6423.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6423-OMIM_613000-HP_0000006-GENCC_100002"	"HGNC:6423"	"KRT16"	"MONDO:0013073"	"palmoplantar keratoderma, nonepidermolytic, focal 1"	"OMIM:613000"	"Palmoplantar keratoderma, nonepidermolytic, focal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6423"	"KRT16"	"OMIM:613000"	"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, 613000"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:55"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6423.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6427-OMIM_184500-HP_0000006-GENCC_100002"	"HGNC:6427"	"KRT17"	"MONDO:0008485"	"sebocystomatosis"	"OMIM:184500"	"Steatocystoma multiplex"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6427"	"KRT17"	"OMIM:184500"	"STEATOCYSTOMA MULTIPLEX, 184500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:55"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6427.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6427-OMIM_167210-HP_0000006-GENCC_100002"	"HGNC:6427"	"KRT17"	"MONDO:0008174"	"pachyonychia congenita 2"	"OMIM:167210"	"Pachyonychia congenita 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6427"	"KRT17"	"OMIM:167210"	"Pachyonychia congenita 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:55"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6427.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6443-OMIM_615726-HP_0000006-GENCC_100002"	"HGNC:6443"	"KRT6A"	"MONDO:0014324"	"pachyonychia congenita 3"	"OMIM:615726"	"Pachyonychia congenita 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6443"	"KRT6A"	"OMIM:615726"	"Pachyonychia congenita 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:56"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6443.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6444-OMIM_615728-HP_0000006-GENCC_100002"	"HGNC:6444"	"KRT6B"	"MONDO:0014325"	"pachyonychia congenita 4"	"OMIM:615728"	"Pachyonychia congenita 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6444"	"KRT6B"	"OMIM:615728"	"PACHYONYCHIA CONGENITA 4, 615728"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:56"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6444.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20406-OMIM_615735-HP_0000006-GENCC_100002"	"HGNC:20406"	"KRT6C"	"MONDO:0014327"	"palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"OMIM:615735"	"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20406"	"KRT6C"	"OMIM:615735"	"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, 615735"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:57"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:20406.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6447-OMIM_144200-HP_0000006-GENCC_100002"	"HGNC:6447"	"KRT9"	"MONDO:0007758"	"epidermolytic palmoplantar keratoderma, 1"	"OMIM:144200"	"Palmoplantar keratoderma, epidermolytic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6447"	"KRT9"	"OMIM:144200"	"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 144200"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:57"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6447.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6663-OMIM_604117-HP_0000006-GENCC_100002"	"HGNC:6663"	"LORICRIN"	"MONDO:0011396"	"loricrin keratoderma"	"OMIM:604117"	"Vohwinkel syndrome with ichthyosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6663"	"LORICRIN"	"OMIM:604117"	"Vohwinkel syndrome with ichthyosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:57"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:6663.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28018-OMIM_612281-HP_0000007-GENCC_100002"	"HGNC:28018"	"NIPAL4"	"MONDO:0012847"	"autosomal recessive congenital ichthyosis 6"	"OMIM:612281"	"Ichthyosis, congenital, autosomal recessive 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28018"	"NIPAL4"	"OMIM:612281"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6, 612281"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:58"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:28018.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8966-OMIM_280000-HP_0000007-GENCC_100002"	"HGNC:8966"	"PIGL"	"MONDO:0010221"	"CHIME syndrome"	"OMIM:280000"	"CHIME syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8966"	"PIGL"	"OMIM:280000"	"CHIME syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:58"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:8966.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21246-OMIM_615024-HP_0000007-GENCC_100002"	"HGNC:21246"	"PNPLA1"	"MONDO:0014011"	"autosomal recessive congenital ichthyosis 10"	"OMIM:615024"	"Ichthyosis, congenital, autosomal recessive 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21246"	"PNPLA1"	"OMIM:615024"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10, 615024"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:58"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:21246.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20788-OMIM_148500-HP_0000006-GENCC_100002"	"HGNC:20788"	"RHBDF2"	"MONDO:0007856"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"OMIM:148500"	"Tylosis with esophageal cancer"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20788"	"RHBDF2"	"OMIM:148500"	"TYLOSIS WITH ESOPHAGEAL CANCER, 148500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:58"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:20788.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21679-OMIM_610644-HP_0000007-GENCC_100002"	"HGNC:21679"	"RSPO1"	"MONDO:0012530"	"palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"	"OMIM:610644"	"Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21679"	"RSPO1"	"OMIM:610644"	"PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, 610644"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:02:59"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:21679.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_29958-OMIM_617574-HP_0000007-GENCC_100002"	"HGNC:29958"	"SDR9C7"	"MONDO:0033092"	"ichthyosis, congenital, autosomal recessive 13"	"OMIM:617574"	"Ichthyosis, congenital, autosomal recessive 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29958"	"SDR9C7"	"OMIM:617574"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 617574"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:00"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:29958.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13902-OMIM_615598-HP_0000007-GENCC_100002"	"HGNC:13902"	"SERPINB7"	"MONDO:0014272"	"palmoplantar keratoderma, Nagashima type"	"OMIM:615598"	"Palmoplantar keratoderma, Nagashima type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13902"	"SERPINB7"	"OMIM:615598"	"PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE, 615598"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:00"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:13902.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10998-OMIM_608649-HP_0000007-GENCC_100002"	"HGNC:10998"	"SLC27A4"	"MONDO:0012089"	"ichthyosis prematurity syndrome"	"OMIM:608649"	"Ichthyosis prematurity syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10998"	"SLC27A4"	"OMIM:608649"	"ICHTHYOSIS PREMATURITY SYNDROME, 608649"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:00"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:10998.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18746-OMIM_248300-HP_0000007-GENCC_100002"	"HGNC:18746"	"SLURP1"	"MONDO:0009552"	"mal de Meleda"	"OMIM:248300"	"Meleda disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18746"	"SLURP1"	"OMIM:248300"	"MELEDA DISEASE, 248300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:01"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:18746.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11133-OMIM_609528-HP_0000007-GENCC_100002"	"HGNC:11133"	"SNAP29"	"MONDO:0012290"	"CEDNIK syndrome"	"OMIM:609528"	"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11133"	"SNAP29"	"OMIM:609528"	"CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:01"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:11133.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15464-OMIM_256500-HP_0000007-GENCC_100002"	"HGNC:15464"	"SPINK5"	"MONDO:0009735"	"Netherton syndrome"	"OMIM:256500"	"Netherton syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15464"	"SPINK5"	"OMIM:256500"	"Netherton syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:01"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:15464.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11344-OMIM_602400-HP_0000007-GENCC_100002"	"HGNC:11344"	"ST14"	"MONDO:0011218"	"autosomal recessive congenital ichthyosis 11"	"OMIM:602400"	"Ichthyosis, congenital, autosomal recessive 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11344"	"ST14"	"OMIM:602400"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, WITH HYPOTRICHOSIS, 602400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:02"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:11344.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11425-OMIM_308100-HP_0001417-GENCC_100002"	"HGNC:11425"	"STS"	"MONDO:0010622"	"recessive X-linked ichthyosis"	"OMIM:308100"	"Ichthyosis, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11425"	"STS"	"OMIM:308100"	"ICHTHYOSIS, X-LINKED, 308100"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:02"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:11425.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11459-OMIM_617571-HP_0000007-GENCC_100002"	"HGNC:11459"	"SULT2B1"	"MONDO:0033091"	"ichthyosis, congenital, autosomal recessive 14"	"OMIM:617571"	"Ichthyosis, congenital, autosomal recessive 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11459"	"SULT2B1"	"OMIM:617571"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14, OMIM:617571"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:02"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:11459.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11573-OMIM_276600-HP_0000007-GENCC_100002"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"tyrosinemia type II"	"OMIM:276600"	"Tyrosinemia, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11573"	"TAT"	"OMIM:276600"	"TYROSINEMIA, TYPE II, 276600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:02"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:11573.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11777-OMIM_242300-HP_0000007-GENCC_100002"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"OMIM:242300"	"Ichthyosis, congenital, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11777"	"TGM1"	"OMIM:242300"	"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, 242300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:02"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:11777.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18084-OMIM_614594-HP_0000006-GENCC_100002"	"HGNC:18084"	"TRPV3"	"MONDO:0019014"	"mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"OMIM:614594"	"Olmsted syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18084"	"TRPV3"	"OMIM:614594"	"OLMSTED SYNDROME, 614594"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:02"	"https://panelapp.genomicsengland.co.uk/panels/555"	""	""	""	"000104.pa555.v1.6.hgnc:18084.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_175-OMIM_600376-HP_0000006-GENCC_100002"	"HGNC:175"	"ACVRL1"	"MONDO:0010880"	"telangiectasia, hereditary hemorrhagic, type 2"	"OMIM:600376"	"Telangiectasia, hereditary hemorrhagic, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:175"	"ACVRL1"	"OMIM:600376"	"Telangiectasia, hereditary hemorrhagic, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:02"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:175.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_29426-OMIM_235510-HP_0000007-GENCC_100002"	"HGNC:29426"	"CCBE1"	"MONDO:0009337"	"Hennekam lymphangiectasia-lymphedema syndrome 1"	"OMIM:235510"	"Hennekam lymphangiectasia-lymphedema syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29426"	"CCBE1"	"OMIM:235510"	"HENNEKAM LYMPHANGIECTASIA-LYMPHOEDEMA SYNDROME 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:03"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:29426.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3395-OMIM_618196-HP_0000006-GENCC_100002"	"HGNC:3395"	"EPHB4"	"MONDO:0020785"	"capillary malformation-arteriovenous malformation 2"	"OMIM:618196"	"Capillary malformation-arteriovenous malformation 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3395"	"EPHB4"	"OMIM:618196"	"CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:03"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:3395.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3530-OMIM_610618-HP_0000006-GENCC_100002"	"HGNC:3530"	"F12"	"MONDO:0012526"	"hereditary angioedema type 3"	"OMIM:610618"	"Angioedema, hereditary, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3530"	"F12"	"OMIM:610618"	"Angioedema, hereditary, type III"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:03"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:3530.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3767-OMIM_602089-HP_0000006-GENCC_100002"	"HGNC:3767"	"FLT4"	"MONDO:0011191"	"capillary infantile hemangioma"	"OMIM:602089"	"Hemangioma, capillary infantile, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3767"	"FLT4"	"OMIM:602089"	"Hemangioma, capillary infantile, somatic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:03"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:3767.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3801-OMIM_153400-HP_0000006-GENCC_100002"	"HGNC:3801"	"FOXC2"	"MONDO:0007922"	"lymphedema-distichiasis syndrome"	"OMIM:153400"	"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3801"	"FOXC2"	"OMIM:153400"	"LYMPHOEDEMA-DISTICHIASIS SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:03"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:3801.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14373-OMIM_138000-HP_0000006-GENCC_100002"	"HGNC:14373"	"GLMN"	"MONDO:0007672"	"glomuvenous malformation"	"OMIM:138000"	"Glomuvenous malformations"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14373"	"GLMN"	"OMIM:138000"	"GLOMULOVENOUS MALFORMATIONS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:03"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:14373.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8975-MONDO_0024291-HP_0000006-GENCC_100002"	"HGNC:8975"	"PIK3CA"	"MONDO:0024291"	"vascular malformation"	"MONDO:0024291"	"vascular malformation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8975"	"PIK3CA"	"MONDO:0024291"	"VASCULAR MALFORMATION"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:04"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:8975.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9871-OMIM_608354-HP_0000006-GENCC_100002"	"HGNC:9871"	"RASA1"	"MONDO:0020783"	"capillary malformation-arteriovenous malformation 1"	"OMIM:608354"	"Capillary malformation-arteriovenous malformation 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9871"	"RASA1"	"OMIM:608354"	"CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION SYNDROME 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:04"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:9871.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10597-OMIM_133020-HP_0000006-GENCC_100002"	"HGNC:10597"	"SCN9A"	"MONDO:0007571"	"primary erythermalgia"	"OMIM:133020"	"Small fiber neuropathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10597"	"SCN9A"	"OMIM:133020"	"Erythermalgia, primary"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:04"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:10597.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11194-OMIM_137940-HP_0000006-GENCC_100002"	"HGNC:11194"	"SOX18"	"MONDO:0019073"	"hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"OMIM:137940"	"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11194"	"SOX18"	"OMIM:137940"	"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:05"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:11194.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11194-OMIM_607823-HP_0000007-GENCC_100002"	"HGNC:11194"	"SOX18"	"MONDO:0011914"	"hypotrichosis-lymphedema-telangiectasia syndrome"	"OMIM:607823"	"Hypotrichosis-lymphedema-telangiectasia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11194"	"SOX18"	"OMIM:607823"	"HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:05"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:11194.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_11724-OMIM_600195-HP_0000006-GENCC_100002"	"HGNC:11724"	"TEK"	"MONDO:0010842"	"multiple cutaneous and mucosal venous malformations"	"OMIM:600195"	"Venous malformations, multiple cutaneous and mucosal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11724"	"TEK"	"OMIM:600195"	"Venous malformations, multiple cutaneous and mucosal"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:05"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:11724.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_882-OMIM_614564-HP_0000006-GENCC_100003"	"HGNC:882"	"ATR"	"MONDO:0013806"	"familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"	"OMIM:614564"	"?Cutaneous telangiectasia and cancer syndrome, familial"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:882"	"ATR"	"OMIM:614564"	"?Cutaneous telangiectasia and cancer syndrome, familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:03:06"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:882.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9588-OMIM_158350-HP_0000006-GENCC_100003"	"HGNC:9588"	"PTEN"	"MONDO:0008021"	"Cowden syndrome 1"	"OMIM:158350"	"Lhermitte-Duclos disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9588"	"PTEN"	"OMIM:158350"	"COWDEN SYNDROME 1, 158350"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:03:06"	"https://panelapp.genomicsengland.co.uk/panels/563"	""	""	""	"000104.pa563.v1.4.hgnc:9588.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_428-OMIM_203800-HP_0000007-GENCC_100002"	"HGNC:428"	"ALMS1"	"MONDO:0008763"	"Alstrom syndrome"	"OMIM:203800"	"Alstrom syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:428"	"ALMS1"	"OMIM:203800"	"ALSTROM SYNDROME, 203800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:06"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:428.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13210-OMIM_600151-HP_0000007-GENCC_100002"	"HGNC:13210"	"ARL6"	"MONDO:0010832"	"Bardet-Biedl syndrome 3"	"OMIM:600151"	"Bardet-Biedl syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13210"	"ARL6"	"OMIM:600151"	"BARDET-BIEDL SYNDROME 3, 600151"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:06"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:13210.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_966-OMIM_209900-HP_0000007-GENCC_100002"	"HGNC:966"	"BBS1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"OMIM:209900"	"Bardet-Biedl syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:966"	"BBS1"	"OMIM:209900"	"BARDET-BIEDL SYNDROME 1, 209900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:06"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:966.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26291-OMIM_615987-HP_0000007-GENCC_100002"	"HGNC:26291"	"BBS10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"OMIM:615987"	"Bardet-Biedl syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26291"	"BBS10"	"OMIM:615987"	"BARDET-BIEDL SYNDROME 10, 615987"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:06"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:26291.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26648-OMIM_615989-HP_0000007-GENCC_100002"	"HGNC:26648"	"BBS12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"OMIM:615989"	"Bardet-Biedl syndrome 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26648"	"BBS12"	"OMIM:615989"	"BARDET-BIEDL SYNDROME 12, 615989"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:06"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:26648.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_967-OMIM_615981-HP_0000007-GENCC_100002"	"HGNC:967"	"BBS2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"OMIM:615981"	"Bardet-Biedl syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:967"	"BBS2"	"OMIM:615981"	"BARDET-BIEDL SYNDROME 2, 615981"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:06"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:967.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_969-OMIM_615982-HP_0000007-GENCC_100002"	"HGNC:969"	"BBS4"	"MONDO:0014433"	"Bardet-Biedl syndrome 4"	"OMIM:615982"	"Bardet-Biedl syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:969"	"BBS4"	"OMIM:615982"	"BARDET-BIEDL SYNDROME 4, 615982"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:07"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:969.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_970-OMIM_615983-HP_0000007-GENCC_100002"	"HGNC:970"	"BBS5"	"MONDO:0014434"	"Bardet-Biedl syndrome 5"	"OMIM:615983"	"Bardet-Biedl syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:970"	"BBS5"	"OMIM:615983"	"BARDET-BIEDL SYNDROME 5, 615983"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:07"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:970.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18758-OMIM_615984-HP_0000007-GENCC_100002"	"HGNC:18758"	"BBS7"	"MONDO:0014435"	"Bardet-Biedl syndrome 7"	"OMIM:615984"	"Bardet-Biedl syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18758"	"BBS7"	"OMIM:615984"	"BARDET-BIEDL SYNDROME 7, 615984"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:07"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:18758.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30000-OMIM_615986-HP_0000007-GENCC_100002"	"HGNC:30000"	"BBS9"	"MONDO:0014437"	"Bardet-Biedl syndrome 9"	"OMIM:615986"	"Bardet-Biedl syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30000"	"BBS9"	"OMIM:615986"	"BARDET-BIEDL SYNDROME 9, 615986"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:07"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:30000.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28209-OMIM_615703-HP_0000007-GENCC_100002"	"HGNC:28209"	"CEP19"	"MONDO:0014309"	"obesity due to CEP19 deficiency"	"OMIM:615703"	"Morbid obesity and spermatogenic failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28209"	"CEP19"	"OMIM:615703"	"MORBID OBESITY AND SPERMATOGENIC FAILURE, 615703"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:07"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:28209.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4392-OMIM_103580-HP_0000006-GENCC_100002"	"HGNC:4392"	"GNAS"	"MONDO:0007078"	"pseudohypoparathyroidism type 1A"	"OMIM:103580"	"Pseudohypoparathyroidism Ia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4392"	"GNAS"	"OMIM:103580"	"PSEUDOHYPOPARATHYROIDISM IA, 103580"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:07"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:4392.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4392-OMIM_603233-HP_0000006-GENCC_100002"	"HGNC:4392"	"GNAS"	"MONDO:0011301"	"pseudohypoparathyroidism type 1B"	"OMIM:603233"	"Pseudohypoparathyroidism Ib"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4392"	"GNAS"	"OMIM:603233"	"PSEUDOHYPOPARATHYROIDISM IB, 603233"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:07"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:4392.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4392-OMIM_612462-HP_0000006-GENCC_100002"	"HGNC:4392"	"GNAS"	"MONDO:0012911"	"pseudohypoparathyroidism type 1C"	"OMIM:612462"	"Pseudohypoparathyroidism Ic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4392"	"GNAS"	"OMIM:612462"	"PSEUDOHYPOPARATHYROIDISM IC, 612462"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:08"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:4392.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6553-OMIM_614962-HP_0000007-GENCC_100002"	"HGNC:6553"	"LEP"	"MONDO:0013991"	"obesity due to congenital leptin deficiency"	"OMIM:614962"	"Obesity, morbid, due to leptin deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6553"	"LEP"	"OMIM:614962"	"OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 614962"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:08"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:6553.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6554-OMIM_614963-HP_0000007-GENCC_100002"	"HGNC:6554"	"LEPR"	"MONDO:0013992"	"obesity due to leptin receptor gene deficiency"	"OMIM:614963"	"Obesity, morbid, due to leptin receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6554"	"LEPR"	"OMIM:614963"	"OBESITY, MORBID, DUE TO LEPTIN RECEPTOR DEFICIENCY, 614963"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:09"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:6554.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7108-OMIM_605231-HP_0000007-GENCC_100002"	"HGNC:7108"	"MKKS"	"MONDO:0011523"	"Bardet-Biedl syndrome 6"	"OMIM:605231"	"Bardet-Biedl syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7108"	"MKKS"	"OMIM:605231"	"BARDET-BIEDL SYNDROME 6, 605231"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:10"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:7108.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7121-OMIM_615990-HP_0000007-GENCC_100002"	"HGNC:7121"	"MKS1"	"MONDO:0014441"	"Bardet-Biedl syndrome 13"	"OMIM:615990"	"Bardet-Biedl syndrome 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7121"	"MKS1"	"OMIM:615990"	"BARDET-BIEDL SYNDROME 13, 615990"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:10"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:7121.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7623-OMIM_616521-HP_0000006-GENCC_100002"	"HGNC:7623"	"MYT1L"	"MONDO:0014678"	"intellectual disability, autosomal dominant 39"	"OMIM:616521"	"Intellectual developmental disorder, autosomal dominant 39"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7623"	"MYT1L"	"OMIM:616521"	"MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, 616521"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:11"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:7623.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8032-OMIM_613886-HP_0000006-GENCC_100002"	"HGNC:8032"	"NTRK2"	"MONDO:0013483"	"obesity, hyperphagia, and developmental delay"	"OMIM:613886"	"Obesity, hyperphagia, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8032"	"NTRK2"	"OMIM:613886"	"OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY, 613886"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:11"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:8032.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8743-OMIM_600955-HP_0000007-GENCC_100002"	"HGNC:8743"	"PCSK1"	"MONDO:0010961"	"obesity due to prohormone convertase I deficiency"	"OMIM:600955"	"Endocrinopathy due to proprotein convertase 1/3 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8743"	"PCSK1"	"OMIM:600955"	"OBESITY WITH IMPAIRED PROHORMONE PROCESSING, 600955"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:12"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:8743.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_18145-OMIM_301900-HP_0001417-GENCC_100002"	"HGNC:18145"	"PHF6"	"MONDO:0010537"	"Borjeson-Forssman-Lehmann syndrome"	"OMIM:301900"	"Borjeson-Forssman-Lehmann syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18145"	"PHF6"	"OMIM:301900"	"BORJESON-FORSSMAN-LEHMANN SYNDROME, 301900"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:12"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:18145.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9201-OMIM_609734-HP_0000007-GENCC_100002"	"HGNC:9201"	"POMC"	"MONDO:0012335"	"obesity due to pro-opiomelanocortin deficiency"	"OMIM:609734"	"Obesity, adrenal insufficiency, and red hair due to POMC deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9201"	"POMC"	"OMIM:609734"	"OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY, 609734"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:13"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:9201.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10671-OMIM_615993-HP_0000007-GENCC_100002"	"HGNC:10671"	"SDCCAG8"	"MONDO:0014444"	"Bardet-Biedl syndrome 16"	"OMIM:615993"	"Bardet-Biedl syndrome 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10671"	"SDCCAG8"	"OMIM:615993"	"BARDET-BIEDL SYNDROME 16, 615993"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:13"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:10671.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20087-OMIM_615985-HP_0000007-GENCC_100002"	"HGNC:20087"	"TTC8"	"MONDO:0014436"	"Bardet-Biedl syndrome 8"	"OMIM:615985"	"Bardet-Biedl syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20087"	"TTC8"	"OMIM:615985"	"BARDET-BIEDL SYNDROME 8, 615985"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:13"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:20087.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2183-OMIM_216550-HP_0000007-GENCC_100002"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"OMIM:216550"	"Cohen syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2183"	"VPS13B"	"OMIM:216550"	"COHEN SYNDROME, 216550"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:13"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:2183.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_29021-OMIM_615991-HP_0000007-GENCC_100003"	"HGNC:29021"	"CEP290"	"MONDO:0014442"	"Bardet-Biedl syndrome 14"	"OMIM:615991"	"?Bardet-Biedl syndrome 14"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29021"	"CEP290"	"OMIM:615991"	"?BARDET-BIEDL SYNDROME 14, 615991"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-18 13:03:14"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:29021.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21474-OMIM_610156-HP_0000007-GENCC_100003"	"HGNC:21474"	"INPP5E"	"MONDO:0012423"	"MORM syndrome"	"OMIM:610156"	"Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21474"	"INPP5E"	"OMIM:610156"	"MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, 610156"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-18 13:03:14"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:21474.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30417-MONDO_0017994-HP_0000006-GENCC_100003"	"HGNC:30417"	"SH2B1"	"MONDO:0017994"	"severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"	"MONDO:0017994"	"severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30417"	"SH2B1"	"MONDO:0017994"	"SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-18 13:03:14"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:30417.m1.p"	"2021-03-31"
"GENCC_000104-HGNC_12406-OMIM_616188-HP_0000007-GENCC_100003"	"HGNC:12406"	"TUB"	"MONDO:0014522"	"retinal dystrophy and obesity"	"OMIM:616188"	"?Retinal dystrophy and obesity"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12406"	"TUB"	"OMIM:616188"	"?RETINAL DYSTROPHY AND OBESITY, 616188"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-18 13:03:15"	"https://panelapp.genomicsengland.co.uk/panels/130"	""	""	""	"000104.pa130.v2.3.hgnc:12406.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_59-OMIM_256450-HP_0000006-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"OMIM:256450"	"Hyperinsulinemic hypoglycemia, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"OMIM:256450"	"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, 256450"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:34"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:59.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_59-OMIM_618857-HP_0000006-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0030088"	"diabetes mellitus, permanent neonatal 3"	"OMIM:618857"	"Diabetes mellitus, permanent neonatal 3, with or without neurologic features"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"OMIM:618857"	"Diabetes mellitus, permanent neonatal 3, with or without neurologic features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:15"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:59.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_59-OMIM_256450-HP_0000007-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"OMIM:256450"	"Hyperinsulinemic hypoglycemia, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"OMIM:256450"	"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, 256450"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:34"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:59.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_59-OMIM_618857-HP_0000007-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0030088"	"diabetes mellitus, permanent neonatal 3"	"OMIM:618857"	"Diabetes mellitus, permanent neonatal 3, with or without neurologic features"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"OMIM:618857"	"Diabetes mellitus, permanent neonatal 3, with or without neurologic features"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:16"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:59.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_15832-MONDO_0016391-HP_0000007-GENCC_100002"	"HGNC:15832"	"BSCL2"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15832"	"BSCL2"	"MONDO:0016391"	"Neonatal diabetes mellitus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:16"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:15832.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15832-MONDO_0027766-HP_0000007-GENCC_100002"	"HGNC:15832"	"BSCL2"	"MONDO:0027766"	"generalized lipodystrophy"	"MONDO:0027766"	"generalized lipodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15832"	"BSCL2"	"MONDO:0027766"	"Generalized lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:17"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:15832.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_15832-OMIM_269700-HP_0000007-GENCC_100002"	"HGNC:15832"	"BSCL2"	"MONDO:0010020"	"congenital generalized lipodystrophy type 2"	"OMIM:269700"	"Lipodystrophy, congenital generalized, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15832"	"BSCL2"	"OMIM:269700"	"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, 269700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:17"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:15832.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_3255-OMIM_226980-HP_0000007-GENCC_100002"	"HGNC:3255"	"EIF2AK3"	"MONDO:0009192"	"Wolcott-Rallison syndrome"	"OMIM:226980"	"Wolcott-Rallison syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3255"	"EIF2AK3"	"OMIM:226980"	"WOLCOTT-RALLISON SYNDROME, 226980 (INCLUDES ONSET OF DIABETES IN NEONATAL PERIOD/ EARLY INFANCY"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:17"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:3255.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3267-MONDO_0005015-HP_0001417-GENCC_100002"	"HGNC:3267"	"EIF2S3"	"MONDO:0005015"	"diabetes mellitus"	"MONDO:0005015"	"diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3267"	"EIF2S3"	"MONDO:0005015"	"Diabetes mellitus (disease)"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:18"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:3267.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3267-OMIM_300148-HP_0001417-GENCC_100002"	"HGNC:3267"	"EIF2S3"	"MONDO:0010258"	"MEHMO syndrome"	"OMIM:300148"	"MEHMO syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3267"	"EIF2S3"	"OMIM:300148"	"MEHMO SYNDROME (X-LINKED NDM AND MICROCEPHALY,300148"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:18"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:3267.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6106-OMIM_304790-HP_0001417-GENCC_100002"	"HGNC:6106"	"FOXP3"	"MONDO:0010580"	"immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"	"OMIM:304790"	"Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6106"	"FOXP3"	"OMIM:304790"	"IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 304790 (INCLUDES INSULIN-DEPENDENT DIABETES MELLITUS (TYPE I"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:18"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6106.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4173-MONDO_0010802-HP_0000006-GENCC_100002"	"HGNC:4173"	"GATA4"	"MONDO:0010802"	"pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"MONDO:0010802"	"pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4173"	"GATA4"	"MONDO:0010802"	"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:18"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4173.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4173-MONDO_0100164-HP_0000006-GENCC_100002"	"HGNC:4173"	"GATA4"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4173"	"GATA4"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLLITUS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:19"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4173.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4173-MONDO_0020525-HP_0000006-GENCC_100002"	"HGNC:4173"	"GATA4"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4173"	"GATA4"	"MONDO:0020525"	"Transient neonatal diabetes mellitus (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:19"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4173.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_4174-OMIM_600001-HP_0000006-GENCC_100002"	"HGNC:4174"	"GATA6"	"MONDO:0010802"	"pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"OMIM:600001"	"Pancreatic agenesis and congenital heart defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4174"	"GATA6"	"OMIM:600001"	"PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 600001"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:19"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4174.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4174-MONDO_0016391-HP_0000006-GENCC_100002"	"HGNC:4174"	"GATA6"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4174"	"GATA6"	"MONDO:0016391"	"NEONATAL DIABETES MELLITUS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:19"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4174.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4195-OMIM_125851-HP_0000006-GENCC_100002"	"HGNC:4195"	"GCK"	"MONDO:0007453"	"maturity-onset diabetes of the young type 2"	"OMIM:125851"	"MODY, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4195"	"GCK"	"OMIM:125851"	"MODY, TYPE II, 125851"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:20"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4195.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4195-OMIM_125853-HP_0000006-GENCC_100002"	"HGNC:4195"	"GCK"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4195"	"GCK"	"OMIM:125853"	"DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, 125853"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:20"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4195.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4195-OMIM_602485-HP_0000006-GENCC_100002"	"HGNC:4195"	"GCK"	"MONDO:0011236"	"hyperinsulinism due to glucokinase deficiency"	"OMIM:602485"	"Hyperinsulinemic hypoglycemia, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4195"	"GCK"	"OMIM:602485"	"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, 602485"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:20"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4195.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_4195-OMIM_606176-HP_0000007-GENCC_100002"	"HGNC:4195"	"GCK"	"MONDO:0100165"	"permanent neonatal diabetes mellitus 1"	"OMIM:606176"	"Diabetes mellitus, permanent neonatal 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4195"	"GCK"	"OMIM:606176"	"Diabetes mellitus, permanent neonatal 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:21"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4195.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_4195-MONDO_0020525-HP_0000007-GENCC_100002"	"HGNC:4195"	"GCK"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4195"	"GCK"	"MONDO:0020525"	"TRANSIENT NEONATAL DIABETES MELLITUS (DISEASE)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:21"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4195.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_28510-OMIM_610199-HP_0000007-GENCC_100002"	"HGNC:28510"	"GLIS3"	"MONDO:0012436"	"neonatal diabetes mellitus with congenital hypothyroidism"	"OMIM:610199"	"Diabetes mellitus, neonatal, with congenital hypothyroidism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28510"	"GLIS3"	"OMIM:610199"	"DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, 610199"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:21"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:28510.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11630-MONDO_0020525-HP_0000006-GENCC_100002"	"HGNC:11630"	"HNF1B"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11630"	"HNF1B"	"MONDO:0020525"	"Transient neonatal diabetes mellitus (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:21"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:11630.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11630-MONDO_0100164-HP_0000006-GENCC_100002"	"HGNC:11630"	"HNF1B"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11630"	"HNF1B"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLITUS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:21"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:11630.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_18550-OMIM_614231-HP_0000007-GENCC_100002"	"HGNC:18550"	"IER3IP1"	"MONDO:0013647"	"primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"	"OMIM:614231"	"Microcephaly, epilepsy, and diabetes syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18550"	"IER3IP1"	"OMIM:614231"	"MICROCEPHALY, EPILEPSY AND DIABETES SYNDROME, 614231"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:22"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:18550.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6008-MONDO_0016391-HP_0000007-GENCC_100002"	"HGNC:6008"	"IL2RA"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6008"	"IL2RA"	"MONDO:0016391"	"Neonatal diabetes mellitus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:22"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6008.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6008-OMIM_601942-HP_0000007-GENCC_100002"	"HGNC:6008"	"IL2RA"	"MONDO:0011168"	"type 1 diabetes mellitus 10"	"OMIM:601942"	"{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6008"	"IL2RA"	"OMIM:601942"	"{DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 601942"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:22"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6008.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6008-MONDO_0012436-HP_0000007-GENCC_100002"	"HGNC:6008"	"IL2RA"	"MONDO:0012436"	"neonatal diabetes mellitus with congenital hypothyroidism"	"MONDO:0012436"	"neonatal diabetes mellitus with congenital hypothyroidism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6008"	"IL2RA"	"MONDO:0012436"	"neonatal diabetes mellitus with congenital hypothyroidism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:22"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6008.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6081-MONDO_0020525-HP_0000006-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6081"	"INS"	"MONDO:0020525"	"TRANSIENT NEONATAL DIABETES MELLITUS (DISEASE)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:22"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6081.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6081-MONDO_0100164-HP_0000006-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6081"	"INS"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLITUS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:22"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6081.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6081-MONDO_0020525-HP_0000007-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6081"	"INS"	"MONDO:0020525"	"TRANSIENT NEONATAL DIABETES MELLITUS (DISEASE)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:23"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6081.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_6257-OMIM_601820-HP_0000006-GENCC_100002"	"HGNC:6257"	"KCNJ11"	"MONDO:0011153"	"hyperinsulinemic hypoglycemia, familial, 2"	"OMIM:601820"	"Hyperinsulinemic hypoglycemia, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6257"	"KCNJ11"	"OMIM:601820"	"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, 601820"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:23"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6257.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6257-OMIM_618856-HP_0000006-GENCC_100002"	"HGNC:6257"	"KCNJ11"	"MONDO:0030087"	"diabetes mellitus, permanent neonatal 2"	"OMIM:618856"	"Diabetes, permanent neonatal 2, with or without neurologic features"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6257"	"KCNJ11"	"OMIM:618856"	"Diabetes, permanent neonatal 2, with or without neurologic features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:23"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6257.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6257-OMIM_125853-HP_0000006-GENCC_100002"	"HGNC:6257"	"KCNJ11"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6257"	"KCNJ11"	"OMIM:125853"	"{DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, 125853"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:23"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6257.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6257-OMIM_610582-HP_0000006-GENCC_100002"	"HGNC:6257"	"KCNJ11"	"MONDO:0012522"	"diabetes mellitus, transient neonatal, 3"	"OMIM:610582"	"Diabetes mellitus, transient neonatal 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6257"	"KCNJ11"	"OMIM:610582"	"DIABETES MELLITUS, TRANSIENT NEONATAL, 3, 610582"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:24"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6257.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_6257-OMIM_616329-HP_0000006-GENCC_100002"	"HGNC:6257"	"KCNJ11"	"MONDO:0014589"	"maturity-onset diabetes of the young type 13"	"OMIM:616329"	"Maturity-onset diabetes of the young, type 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6257"	"KCNJ11"	"OMIM:616329"	"Maturity-onset diabetes of the young, type 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:24"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6257.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_6257-OMIM_601820-HP_0000007-GENCC_100002"	"HGNC:6257"	"KCNJ11"	"MONDO:0011153"	"hyperinsulinemic hypoglycemia, familial, 2"	"OMIM:601820"	"Hyperinsulinemic hypoglycemia, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6257"	"KCNJ11"	"OMIM:601820"	"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, 601820"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:24"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6257.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_1742-OMIM_614700-HP_0000007-GENCC_100002"	"HGNC:1742"	"LRBA"	"MONDO:0013863"	"combined immunodeficiency due to LRBA deficiency"	"OMIM:614700"	"Immunodeficiency, common variable, 8, with autoimmunity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1742"	"LRBA"	"OMIM:614700"	"IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, 614700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:24"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:1742.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4979-MONDO_0016391-HP_0000007-GENCC_100002"	"HGNC:4979"	"MNX1"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4979"	"MNX1"	"MONDO:0016391"	"NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:24"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4979.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4979-MONDO_0100164-HP_0000007-GENCC_100002"	"HGNC:4979"	"MNX1"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4979"	"MNX1"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:24"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4979.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4979-OMIM_176450-HP_0000007-GENCC_100002"	"HGNC:4979"	"MNX1"	"MONDO:0008305"	"Currarino triad"	"OMIM:176450"	"Currarino syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4979"	"MNX1"	"OMIM:176450"	"CURRARINO SYNDROME, 176450"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:24"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:4979.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_7762-MONDO_0012192-HP_0000007-GENCC_100002"	"HGNC:7762"	"NEUROD1"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7762"	"NEUROD1"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:25"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:7762.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7762-OMIM_606394-HP_0000007-GENCC_100002"	"HGNC:7762"	"NEUROD1"	"MONDO:0011668"	"maturity-onset diabetes of the young type 6"	"OMIM:606394"	"Maturity-onset diabetes of the young 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7762"	"NEUROD1"	"OMIM:606394"	"MATURITY-ONSET DIABETES OF THE YOUNG 6, 606394"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:25"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:7762.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_13806-MONDO_0100164-HP_0000007-GENCC_100002"	"HGNC:13806"	"NEUROG3"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13806"	"NEUROG3"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:25"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:13806.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13806-OMIM_610370-HP_0000007-GENCC_100002"	"HGNC:13806"	"NEUROG3"	"MONDO:0012479"	"congenital malabsorptive diarrhea 4"	"OMIM:610370"	"Diarrhea 4, malabsorptive, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13806"	"NEUROG3"	"OMIM:610370"	"Diarrhea 4, malabsorptive, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:26"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:13806.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_7835-MONDO_0016391-HP_0000007-GENCC_100002"	"HGNC:7835"	"NKX2-2"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7835"	"NKX2-2"	"MONDO:0016391"	"NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:26"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:7835.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6107-OMIM_606392-HP_0000007-GENCC_100002"	"HGNC:6107"	"PDX1"	"MONDO:0011667"	"maturity-onset diabetes of the young type 4"	"OMIM:606392"	"MODY, type IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6107"	"PDX1"	"OMIM:606392"	"MODY, type IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:26"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6107.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6107-MONDO_0100164-HP_0000007-GENCC_100002"	"HGNC:6107"	"PDX1"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6107"	"PDX1"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:26"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6107.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6107-OMIM_260370-HP_0000007-GENCC_100002"	"HGNC:6107"	"PDX1"	"MONDO:0024547"	"pancreatic agenesis 1"	"OMIM:260370"	"Pancreatic agenesis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6107"	"PDX1"	"OMIM:260370"	"PANCREATIC AGENESIS 1, 260370"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:27"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:6107.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_23734-OMIM_609069-HP_0000007-GENCC_100002"	"HGNC:23734"	"PTF1A"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"OMIM:609069"	"Pancreatic and cerebellar agenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23734"	"PTF1A"	"OMIM:609069"	"Pancreatic and cerebellar agenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:27"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:23734.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23734-MONDO_0100164-HP_0000007-GENCC_100002"	"HGNC:23734"	"PTF1A"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23734"	"PTF1A"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:27"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:23734.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_23734-OMIM_615935-HP_0000007-GENCC_100002"	"HGNC:23734"	"PTF1A"	"MONDO:0014406"	"pancreatic agenesis 2"	"OMIM:615935"	"Pancreatic agenesis 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23734"	"PTF1A"	"OMIM:615935"	"Pancreatic agenesis 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:27"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:23734.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_11006-OMIM_227810-HP_0000007-GENCC_100002"	"HGNC:11006"	"SLC2A2"	"MONDO:0009216"	"glycogen storage disease due to GLUT2 deficiency"	"OMIM:227810"	"Fanconi-Bickel syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11006"	"SLC2A2"	"OMIM:227810"	"FANCONI-BICKEL SYNDROME, 227810"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:27"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:11006.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11006-MONDO_0016391-HP_0000007-GENCC_100002"	"HGNC:11006"	"SLC2A2"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11006"	"SLC2A2"	"MONDO:0016391"	"NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:28"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:11006.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11006-MONDO_0020525-HP_0000007-GENCC_100002"	"HGNC:11006"	"SLC2A2"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11006"	"SLC2A2"	"MONDO:0020525"	"TRANSIENT NEONATAL DIABETES MELLITUS (DISEASE)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:28"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:11006.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_11006-MONDO_0100164-HP_0000007-GENCC_100002"	"HGNC:11006"	"SLC2A2"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11006"	"SLC2A2"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:28"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:11006.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_18791-OMIM_601410-HP_0000007-GENCC_100002"	"HGNC:18791"	"ZFP57"	"MONDO:0011073"	"diabetes mellitus, transient neonatal, 1"	"OMIM:601410"	"{Diabetes mellitus, transient neonatal 1}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18791"	"ZFP57"	"OMIM:601410"	"DIABETES MELLITUS, TRANSIENT NEONATAL, 1, 601410"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:28"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:18791.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_325-MONDO_0016391-HP_0000007-GENCC_100004"	"HGNC:325"	"AGPAT2"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:325"	"AGPAT2"	"MONDO:0016391"	"NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-02-19 13:03:28"	"https://panelapp.genomicsengland.co.uk/panels/293"	""	""	""	"000104.pa293.v2.3.hgnc:325.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_565-OMIM_600740-HP_0000006-GENCC_100002"	"HGNC:565"	"AP2S1"	"MONDO:0010926"	"familial hypocalciuric hypercalcemia 3"	"OMIM:600740"	"Hypocalciuric hypercalcemia, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:565"	"AP2S1"	"OMIM:600740"	"HYPOCALCIURIC HYPERCALCEMIA, TYPE III (600740"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:03:28"	"https://panelapp.genomicsengland.co.uk/panels/481"	""	"23222959, 28176280, 24081735, 25993639, 26082470"	""	"000104.pa481.v2.4.hgnc:565.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1514-OMIM_145980-HP_0000006-GENCC_100002"	"HGNC:1514"	"CASR"	"MONDO:0007791"	"familial hypocalciuric hypercalcemia 1"	"OMIM:145980"	"Hypocalciuric hypercalcemia, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1514"	"CASR"	"OMIM:145980"	"HYPOCALCIURIC HYPERCALCEMIA, TYPE I (145980"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:03:29"	"https://panelapp.genomicsengland.co.uk/panels/481"	""	"19423559"	""	"000104.pa481.v2.4.hgnc:1514.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4379-OMIM_615361-HP_0000006-GENCC_100002"	"HGNC:4379"	"GNA11"	"MONDO:0014146"	"autosomal dominant hypocalcemia 2"	"OMIM:615361"	"Hypocalcemia, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4379"	"GNA11"	"OMIM:615361"	"HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (615361"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:03:29"	"https://panelapp.genomicsengland.co.uk/panels/481"	""	"23222959, 26729423"	""	"000104.pa481.v2.4.hgnc:4379.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4379-OMIM_145981-HP_0000006-GENCC_100002"	"HGNC:4379"	"GNA11"	"MONDO:0007792"	"familial hypocalciuric hypercalcemia 2"	"OMIM:145981"	"Hypocalciuric hypercalcemia, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4379"	"GNA11"	"OMIM:145981"	"HYPOCALCIURIC HYPERCALCEMIA, TYPE II (145981"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:03:29"	"https://panelapp.genomicsengland.co.uk/panels/481"	""	"23222959, 26729423"	""	"000104.pa481.v2.4.hgnc:4379.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3680-OMIM_617993-HP_0000007-GENCC_100002"	"HGNC:3680"	"FGF23"	"MONDO:0060714"	"tumoral calcinosis, hyperphosphatemic, familial, 2"	"OMIM:617993"	"Tumoral calcinosis, hyperphosphatemic, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3680"	"FGF23"	"OMIM:617993"	"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2, 617993"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:30"	"https://panelapp.genomicsengland.co.uk/panels/552"	""	"15590700"	""	"000104.pa552.v1.3.hgnc:3680.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4125-OMIM_211900-HP_0000007-GENCC_100002"	"HGNC:4125"	"GALNT3"	"MONDO:0008897"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"OMIM:211900"	"Tumoral calcinosis, hyperphosphatemic, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4125"	"GALNT3"	"OMIM:211900"	"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1, 211900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:30"	"https://panelapp.genomicsengland.co.uk/panels/552"	""	"15133511"	""	"000104.pa552.v1.3.hgnc:4125.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1348-OMIM_610455-HP_0000007-GENCC_100003"	"HGNC:1348"	"SAMD9"	"MONDO:0012502"	"normophosphatemic familial tumoral calcinosis"	"OMIM:610455"	"Tumoral calcinosis, familial, normophosphatemic"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1348"	"SAMD9"	"OMIM:610455"	"TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, 610455"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-19 13:03:31"	"https://panelapp.genomicsengland.co.uk/panels/552"	""	"18094730, 16960814"	""	"000104.pa552.v1.3.hgnc:1348.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6344-OMIM_617994-HP_0000007-GENCC_100004"	"HGNC:6344"	"KL"	"MONDO:0060715"	"tumoral calcinosis, hyperphosphatemic, familial, 3"	"OMIM:617994"	"?Tumoral calcinosis, hyperphosphatemic, familial, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6344"	"KL"	"OMIM:617994"	"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 617994"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-02-19 13:03:31"	"https://panelapp.genomicsengland.co.uk/panels/552"	""	"17710231"	""	"000104.pa552.v1.3.hgnc:6344.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25781-OMIM_615954-HP_0000006-GENCC_100002"	"HGNC:25781"	"ARMC5"	"MONDO:0014416"	"ACTH-independent macronodular adrenal hyperplasia 2"	"OMIM:615954"	"{ACTH-independent macronodular adrenal hyperplasia 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25781"	"ARMC5"	"OMIM:615954"	"ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, 615954"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:32"	"https://panelapp.genomicsengland.co.uk/panels/566"	""	"24283224, 24601692, 24708098, 24905064"	""	"000104.pa566.v1.3.hgnc:25781.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8773-OMIM_610475-HP_0000006-GENCC_100002"	"HGNC:8773"	"PDE11A"	"MONDO:0012505"	"pigmented nodular adrenocortical disease, primary, 2"	"OMIM:610475"	"Pigmented nodular adrenocortical disease, primary, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8773"	"PDE11A"	"OMIM:610475"	"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 610475"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:32"	"https://panelapp.genomicsengland.co.uk/panels/566"	""	"16767104"	""	"000104.pa566.v1.3.hgnc:8773.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8794-OMIM_614190-HP_0000006-GENCC_100002"	"HGNC:8794"	"PDE8B"	"MONDO:0013616"	"pigmented nodular adrenocortical disease, primary, 3"	"OMIM:614190"	"Pigmented nodular adrenocortical disease, primary, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8794"	"PDE8B"	"OMIM:614190"	"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3, 614190"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:33"	"https://panelapp.genomicsengland.co.uk/panels/566"	""	"18272904"	""	"000104.pa566.v1.3.hgnc:8794.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9388-OMIM_610489-HP_0000006-GENCC_100002"	"HGNC:9388"	"PRKAR1A"	"MONDO:0012509"	"pigmented nodular adrenocortical disease, primary, 1"	"OMIM:610489"	"Pigmented nodular adrenocortical disease, primary, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9388"	"PRKAR1A"	"OMIM:610489"	"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, 610489"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:03:33"	"https://panelapp.genomicsengland.co.uk/panels/566"	""	"12213893"	""	"000104.pa566.v1.3.hgnc:9388.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_59-MONDO_0020525-HP_0000006-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"MONDO:0020525"	"TRANSIENT NEONATAL DIABETES MELLITUS (DISEASE)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:33"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:59.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_59-OMIM_125853-HP_0000006-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"OMIM:125853"	"DIABETES MELLITUS, NONINSULIN-DEPENDENT, 125853"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:33"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:59.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_59-OMIM_610374-HP_0000005-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0012480"	"diabetes mellitus, transient neonatal, 2"	"OMIM:610374"	"Diabetes mellitus, transient neonatal 2"	"GENCC:100002"	"Strong"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"OMIM:610374"	"DIABETES MELLITUS, TRANSIENT NEONATAL 2,  610374"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:34"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:59.m3.p1"	"2021-03-31"
"GENCC_000104-HGNC_59-OMIM_240800-HP_0000006-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0009415"	"hypoglycemia, leucine-induced"	"OMIM:240800"	"Hypoglycemia of infancy, leucine-sensitive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"OMIM:240800"	"HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, 240800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:34"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:59.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_59-MONDO_0100164-HP_0000007-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:59"	"ABCC8"	"MONDO:0100164"	"PERMANENT NEONATAL DIABETES MELLITUS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:35"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:59.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_392-OMIM_125853-HP_0000006-GENCC_100002"	"HGNC:392"	"AKT2"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:392"	"AKT2"	"OMIM:125853"	"DIABETES MELLITUS, TYPE II, OMIM:125853"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:35"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:392.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_24035-OMIM_616511-HP_0000006-GENCC_100002"	"HGNC:24035"	"APPL1"	"MONDO:0014674"	"maturity-onset diabetes of the young type 14"	"OMIM:616511"	"{Maturity-onset diabetes of the young, type 14}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24035"	"APPL1"	"OMIM:616511"	"{MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, 616511"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:35"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:24035.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1848-OMIM_609812-HP_0000006-GENCC_100002"	"HGNC:1848"	"CEL"	"MONDO:0012348"	"maturity-onset diabetes of the young type 8"	"OMIM:609812"	"Maturity-onset diabetes of the young, type VIII"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1848"	"CEL"	"OMIM:609812"	"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, 609812"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:36"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:1848.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_24212-OMIM_604928-HP_0000007-GENCC_100002"	"HGNC:24212"	"CISD2"	"MONDO:0011502"	"Wolfram syndrome 2"	"OMIM:604928"	"Wolfram syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24212"	"CISD2"	"OMIM:604928"	"Wolfram syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:36"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:24212.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9439-OMIM_616192-HP_0000007-GENCC_100002"	"HGNC:9439"	"DNAJC3"	"MONDO:0014523"	"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"OMIM:616192"	"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9439"	"DNAJC3"	"OMIM:616192"	"?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, 616192"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:36"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:9439.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9439-MONDO_0014523-HP_0000007-GENCC_100002"	"HGNC:9439"	"DNAJC3"	"MONDO:0014523"	"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"MONDO:0014523"	"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9439"	"DNAJC3"	"MONDO:0014523"	"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:36"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:9439.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3092-OMIM_615812-HP_0000006-GENCC_100002"	"HGNC:3092"	"DYRK1B"	"MONDO:0014352"	"abdominal obesity-metabolic syndrome 3"	"OMIM:615812"	"Abdominal obesity-metabolic syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3092"	"DYRK1B"	"OMIM:615812"	"ABDOMINAL OBESITY-METABOLIC SYNDROME 3, 615812"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:37"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:3092.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4173-MONDO_0016391-HP_0000006-GENCC_100002"	"HGNC:4173"	"GATA4"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4173"	"GATA4"	"MONDO:0016391"	"NEONATAL DIABETES MELLITUS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:37"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:4173.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4173-MONDO_0004955-HP_0000006-GENCC_100002"	"HGNC:4173"	"GATA4"	"MONDO:0004955"	"metabolic syndrome"	"MONDO:0004955"	"metabolic syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4173"	"GATA4"	"MONDO:0004955"	"METABOLIC SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:37"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:4173.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4174-MONDO_0004955-HP_0000006-GENCC_100002"	"HGNC:4174"	"GATA6"	"MONDO:0004955"	"metabolic syndrome"	"MONDO:0004955"	"metabolic syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4174"	"GATA6"	"MONDO:0004955"	"METABOLIC SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:37"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:4174.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11621-OMIM_612520-HP_0000006-GENCC_100002"	"HGNC:11621"	"HNF1A"	"MONDO:0012919"	"type 1 diabetes mellitus 20"	"OMIM:612520"	"Diabetes mellitus, insulin-dependent, 20"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11621"	"HNF1A"	"OMIM:612520"	"DIABETES MELLITUS, INSULIN-DEPENDENT, 20, 612520"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:38"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:11621.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11621-OMIM_125853-HP_0000006-GENCC_100002"	"HGNC:11621"	"HNF1A"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11621"	"HNF1A"	"OMIM:125853"	"{DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, 125853"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:38"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:11621.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11621-OMIM_600496-HP_0000006-GENCC_100002"	"HGNC:11621"	"HNF1A"	"MONDO:0010894"	"maturity-onset diabetes of the young type 3"	"OMIM:600496"	"MODY, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11621"	"HNF1A"	"OMIM:600496"	"MODY, TYPE III, 600496"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:38"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:11621.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_11630-OMIM_125853-HP_0000006-GENCC_100002"	"HGNC:11630"	"HNF1B"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11630"	"HNF1B"	"OMIM:125853"	"Type 2 diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:38"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:11630.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11630-OMIM_137920-HP_0000006-GENCC_100002"	"HGNC:11630"	"HNF1B"	"MONDO:0007669"	"renal cysts and diabetes syndrome"	"OMIM:137920"	"Renal cysts and diabetes syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11630"	"HNF1B"	"OMIM:137920"	"RENAL CYSTS AND DIABETES SYNDROME, 137920"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:39"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:11630.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_5024-OMIM_125853-HP_0000006-GENCC_100002"	"HGNC:5024"	"HNF4A"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5024"	"HNF4A"	"OMIM:125853"	"{DIABETES MELLITUS, NONINSULIN-DEPENDENT}, 125853"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:39"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:5024.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5024-OMIM_125850-HP_0000006-GENCC_100002"	"HGNC:5024"	"HNF4A"	"MONDO:0007452"	"maturity-onset diabetes of the young type 1"	"OMIM:125850"	"MODY, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5024"	"HNF4A"	"OMIM:125850"	"MODY, type I "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:39"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:5024.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_5024-OMIM_616026-HP_0000006-GENCC_100002"	"HGNC:5024"	"HNF4A"	"MONDO:0014458"	"Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young"	"OMIM:616026"	"Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5024"	"HNF4A"	"OMIM:616026"	"FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG  616026"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:39"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:5024.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6081-OMIM_613370-HP_0000006-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0013240"	"maturity-onset diabetes of the young type 10"	"OMIM:613370"	"Maturity-onset diabetes of the young, type 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6081"	"INS"	"OMIM:613370"	"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, 613370"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:40"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6081.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6081-OMIM_618858-HP_0000006-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0030089"	"diabetes mellitus, permanent neonatal 4"	"OMIM:618858"	"Diabetes mellitus, permanent neonatal 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6081"	"INS"	"OMIM:618858"	"Diabetes mellitus, permanent neonatal 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:40"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6081.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6081-OMIM_125852-HP_0000006-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0007454"	"type 1 diabetes mellitus 2"	"OMIM:125852"	"Diabetes mellitus, insulin-dependent, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6081"	"INS"	"OMIM:125852"	"DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 125852"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:41"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6081.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6081-OMIM_616214-HP_0000006-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0014535"	"hyperproinsulinemia"	"OMIM:616214"	"Hyperproinsulinemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6081"	"INS"	"OMIM:616214"	"Hyperproinsulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:41"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6081.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_6081-OMIM_618858-HP_0000007-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0030089"	"diabetes mellitus, permanent neonatal 4"	"OMIM:618858"	"Diabetes mellitus, permanent neonatal 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6081"	"INS"	"OMIM:618858"	"Diabetes mellitus, permanent neonatal 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:41"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6081.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_6091-OMIM_610549-HP_0000006-GENCC_100002"	"HGNC:6091"	"INSR"	"MONDO:0012520"	"insulin-resistance syndrome type A"	"OMIM:610549"	"Diabetes mellitus, insulin-resistant, with acanthosis nigricans"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6091"	"INSR"	"OMIM:610549"	"DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, 610549"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:42"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6091.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6091-OMIM_609968-HP_0000006-GENCC_100002"	"HGNC:6091"	"INSR"	"MONDO:0012381"	"hyperinsulinism due to INSR deficiency"	"OMIM:609968"	"Hyperinsulinemic hypoglycemia, familial, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6091"	"INSR"	"OMIM:609968"	"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, 609968"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:42"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6091.m1.p"	"2021-03-31"
"GENCC_000104-HGNC_6091-OMIM_246200-HP_0000007-GENCC_100002"	"HGNC:6091"	"INSR"	"MONDO:0009517"	"Donohue syndrome"	"OMIM:246200"	"Donohue syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6091"	"INSR"	"OMIM:246200"	"LEPRECHAUNISM, 246200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:43"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6091.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_6091-OMIM_610549-HP_0000007-GENCC_100002"	"HGNC:6091"	"INSR"	"MONDO:0012520"	"insulin-resistance syndrome type A"	"OMIM:610549"	"Diabetes mellitus, insulin-resistant, with acanthosis nigricans"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6091"	"INSR"	"OMIM:610549"	"DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, 610549"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:43"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6091.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_6091-OMIM_262190-HP_0000007-GENCC_100002"	"HGNC:6091"	"INSR"	"MONDO:0009874"	"Rabson-Mendenhall syndrome"	"OMIM:262190"	"Rabson-Mendenhall syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6091"	"INSR"	"OMIM:262190"	"RABSON-MENDENHALL SYNDROME, 262190"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:43"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6091.m2.p3"	"2021-03-31"
"GENCC_000104-HGNC_6636-OMIM_151660-HP_0000006-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0007906"	"familial partial lipodystrophy, Dunnigan type"	"OMIM:151660"	"Lipodystrophy, familial partial, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6636"	"LMNA"	"OMIM:151660"	"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:43"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:6636.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7490-MONDO_0010785-HP_0001427-GENCC_100002"	"HGNC:7490"	"MT-TL1"	"MONDO:0010785"	"maternally-inherited diabetes and deafness"	"MONDO:0010785"	"maternally-inherited diabetes and deafness"	"GENCC:100002"	"Strong"	"HP:0001427"	"Mitochondrial"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7490"	"MT-TL1"	"MONDO:0010785"	"maternally-inherited diabetes and deafness"	"HP:0001427"	"Mitochondrial inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:44"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:7490.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8620-MONDO_0005015-HP_0000006-GENCC_100002"	"HGNC:8620"	"PAX6"	"MONDO:0005015"	"diabetes mellitus"	"MONDO:0005015"	"diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8620"	"PAX6"	"MONDO:0005015"	"diabetes mellitus (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:44"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:8620.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8646-OMIM_264070-HP_0000007-GENCC_100002"	"HGNC:8646"	"PCBD1"	"MONDO:0009908"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"OMIM:264070"	"Hyperphenylalaninemia, BH4-deficient, D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8646"	"PCBD1"	"OMIM:264070"	"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, 264070"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:44"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:8646.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8979-OMIM_269880-HP_0000006-GENCC_100002"	"HGNC:8979"	"PIK3R1"	"MONDO:0010026"	"SHORT syndrome"	"OMIM:269880"	"SHORT syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8979"	"PIK3R1"	"OMIM:269880"	"SHORT SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:44"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:8979.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9076-OMIM_613877-HP_0000006-GENCC_100002"	"HGNC:9076"	"PLIN1"	"MONDO:0013478"	"PLIN1-related familial partial lipodystrophy"	"OMIM:613877"	"Lipodystrophy, familial partial, type 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9076"	"PLIN1"	"OMIM:613877"	"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, 613877"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:44"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:9076.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9175-OMIM_615381-HP_0000006-GENCC_100002"	"HGNC:9175"	"POLD1"	"MONDO:0014157"	"mandibular hypoplasia-deafness-progeroid syndrome"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9175"	"POLD1"	"OMIM:615381"	"MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, 615381"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:45"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:9175.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9236-OMIM_604367-HP_0000006-GENCC_100002"	"HGNC:9236"	"PPARG"	"MONDO:0011448"	"PPARG-related familial partial lipodystrophy"	"OMIM:604367"	"Lipodystrophy, familial partial, type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9236"	"PPARG"	"OMIM:604367"	"INSULIN RESISTANCE, SEVERE, DIGENIC, 604367"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:45"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:9236.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_14951-OMIM_616817-HP_0000007-GENCC_100002"	"HGNC:14951"	"PPP1R15B"	"MONDO:0014785"	"microcephaly, short stature, and impaired glucose metabolism 2"	"OMIM:616817"	"Microcephaly, short stature, and impaired glucose metabolism 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14951"	"PPP1R15B"	"OMIM:616817"	"Microcephaly, short stature, and impaired glucose metabolism 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:46"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:14951.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21478-OMIM_615710-HP_0000007-GENCC_100002"	"HGNC:21478"	"RFX6"	"MONDO:0014315"	"Mitchell-Riley syndrome"	"OMIM:615710"	"Mitchell-Riley syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21478"	"RFX6"	"OMIM:615710"	"MITCHELL-RILEY SYNDROME, 615710"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:46"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:21478.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23096-OMIM_602782-HP_0000007-GENCC_100002"	"HGNC:23096"	"SLC29A3"	"MONDO:0011273"	"H syndrome"	"OMIM:602782"	"Histiocytosis-lymphadenopathy plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23096"	"SLC29A3"	"OMIM:602782"	"HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME,602782"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:47"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:23096.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28403-OMIM_616033-HP_0000007-GENCC_100002"	"HGNC:28403"	"TRMT10A"	"MONDO:0000208"	"microcephaly, short stature, and impaired glucose metabolism 1"	"OMIM:616033"	"Microcephaly, short stature, and impaired glucose metabolism 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28403"	"TRMT10A"	"OMIM:616033"	"MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, 616033"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:47"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:28403.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12762-OMIM_614296-HP_0000006-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0013673"	"Wolfram-like syndrome"	"OMIM:614296"	"Wolfram-like syndrome, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12762"	"WFS1"	"OMIM:614296"	"WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, 614296"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:47"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:12762.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12762-OMIM_222300-HP_0000007-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0009101"	"Wolfram syndrome 1"	"OMIM:222300"	"Wolfram syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12762"	"WFS1"	"OMIM:222300"	"WOLFRAM SYNDROME 1, 222300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:47"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:12762.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_13503-MONDO_0005015-HP_0000006-GENCC_100002"	"HGNC:13503"	"ZBTB20"	"MONDO:0005015"	"diabetes mellitus"	"MONDO:0005015"	"diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13503"	"ZBTB20"	"MONDO:0005015"	"diabetes mellitus (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:47"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:13503.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18791-MONDO_0020525-HP_0000007-GENCC_100002"	"HGNC:18791"	"ZFP57"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18791"	"ZFP57"	"MONDO:0020525"	"transient neonatal diabetes mellitus (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:47"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:18791.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12877-OMIM_608612-HP_0000007-GENCC_100002"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0012074"	"mandibuloacral dysplasia with type B lipodystrophy"	"OMIM:608612"	"Mandibuloacral dysplasia with type B lipodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12877"	"ZMPSTE24"	"OMIM:608612"	"MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, 608612"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:03:48"	"https://panelapp.genomicsengland.co.uk/panels/472"	""	""	""	"000104.pa472.v2.4.hgnc:12877.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23161-OMIM_617874-HP_0000006-GENCC_100002"	"HGNC:23161"	"ALG8"	"MONDO:0054743"	"polycystic liver disease 3 with or without kidney cysts"	"OMIM:617874"	"Polycystic liver disease 3 with or without kidney cysts"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23161"	"ALG8"	"OMIM:617874"	"Polycystic liver disease 3 with or without kidney cysts"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:48"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:23161.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14889-OMIM_618061-HP_0000006-GENCC_100002"	"HGNC:14889"	"DNAJB11"	"MONDO:0054842"	"polycystic kidney disease 6 with or without polycystic liver disease"	"OMIM:618061"	"Polycystic kidney disease 6 with or without polycystic liver disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14889"	"DNAJB11"	"OMIM:618061"	"POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (618061"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:49"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:14889.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4138-OMIM_600666-HP_0000006-GENCC_100002"	"HGNC:4138"	"GANAB"	"MONDO:0010916"	"polycystic kidney disease 3 with or without polycystic liver disease"	"OMIM:600666"	"Polycystic kidney disease 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4138"	"GANAB"	"OMIM:600666"	"POLYCYSTIC KIDNEY DISEASE 3 (600666"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:49"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:4138.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6697-OMIM_617875-HP_0000006-GENCC_100002"	"HGNC:6697"	"LRP5"	"MONDO:0044327"	"polycystic liver disease 4 with or without kidney cysts"	"OMIM:617875"	"Polycystic liver disease 4 with or without kidney cysts"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6697"	"LRP5"	"OMIM:617875"	"POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS (617875"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:50"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:6697.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9008-OMIM_173900-HP_0000006-GENCC_100002"	"HGNC:9008"	"PKD1"	"MONDO:0008263"	"polycystic kidney disease 1"	"OMIM:173900"	"Polycystic kidney disease 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9008"	"PKD1"	"OMIM:173900"	"Polycystic kidney disease 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:50"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:9008.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9008-MONDO_0010913-HP_0000006-GENCC_100002"	"HGNC:9008"	"PKD1"	"MONDO:0010913"	"Caroli disease"	"MONDO:0010913"	"Caroli disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9008"	"PKD1"	"MONDO:0010913"	"Caroli disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:51"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:9008.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9009-OMIM_613095-HP_0000006-GENCC_100002"	"HGNC:9009"	"PKD2"	"MONDO:0013131"	"polycystic kidney disease 2"	"OMIM:613095"	"Polycystic kidney disease 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9009"	"PKD2"	"OMIM:613095"	"Polycystic kidney disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:51"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:9009.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9016-OMIM_263200-HP_0000007-GENCC_100002"	"HGNC:9016"	"PKHD1"	"MONDO:0033004"	"polycystic kidney disease 4"	"OMIM:263200"	"Polycystic kidney disease 4, with or without hepatic disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9016"	"PKHD1"	"OMIM:263200"	"POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE (263200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:52"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:9016.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9411-OMIM_174050-HP_0000006-GENCC_100002"	"HGNC:9411"	"PRKCSH"	"MONDO:0008265"	"polycystic liver disease 1"	"OMIM:174050"	"Polycystic liver disease 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9411"	"PRKCSH"	"OMIM:174050"	"Polycystic liver disease 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:52"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:9411.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21082-OMIM_617004-HP_0000006-GENCC_100002"	"HGNC:21082"	"SEC63"	"MONDO:0014860"	"polycystic liver disease 2"	"OMIM:617004"	"Polycystic liver disease 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21082"	"SEC63"	"OMIM:617004"	"Polycystic liver disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-14 13:03:52"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:21082.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15672-MONDO_0004691-HP_0000006-GENCC_100003"	"HGNC:15672"	"ALG9"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15672"	"ALG9"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-14 13:03:52"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:15672.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_24123-OMIM_614209-HP_0000007-GENCC_100003"	"HGNC:24123"	"B9D1"	"MONDO:0013630"	"Meckel syndrome, type 9"	"OMIM:614209"	"?Meckel syndrome 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24123"	"B9D1"	"OMIM:614209"	"?Meckel syndrome 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-14 13:03:52"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:24123.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16993-MONDO_0008265-HP_0000006-GENCC_100003"	"HGNC:16993"	"SEC61B"	"MONDO:0008265"	"polycystic liver disease 1"	"MONDO:0008265"	"polycystic liver disease 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16993"	"SEC61B"	"MONDO:0008265"	"Polycystic liver disease 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-14 13:03:52"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:16993.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26200-OMIM_617341-HP_0000007-GENCC_100003"	"HGNC:26200"	"STN1"	"MONDO:0015026"	"cerebroretinal microangiopathy with calcifications and cysts 2"	"OMIM:617341"	"Cerebroretinal microangiopathy with calcifications and cysts 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26200"	"STN1"	"OMIM:617341"	"CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 (617341"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-14 13:03:52"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:26200.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11727-OMIM_127550-HP_0000006-GENCC_100003"	"HGNC:11727"	"TERC"	"MONDO:0007485"	"dyskeratosis congenita, autosomal dominant 1"	"OMIM:127550"	"Dyskeratosis congenita, autosomal dominant 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11727"	"TERC"	"OMIM:127550"	"DYSKERATOSISCONGENITA, AUTOSOMAL DOMINANT 1 (127550"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-14 13:03:53"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:11727.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11730-OMIM_613989-HP_0000006-GENCC_100003"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11730"	"TERT"	"OMIM:613989"	"{DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4} (613989"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-14 13:03:53"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:11730.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11730-OMIM_613989-HP_0000007-GENCC_100003"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11730"	"TERT"	"OMIM:613989"	"{DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4} (613989"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-14 13:03:53"	"https://panelapp.genomicsengland.co.uk/panels/653"	""	""	""	"000104.pa653.v1.7.hgnc:11730.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_395-OMIM_612740-HP_0000007-GENCC_100002"	"HGNC:395"	"ALAD"	"MONDO:0013000"	"porphyria due to ALA dehydratase deficiency"	"OMIM:612740"	"{Lead poisoning, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:395"	"ALAD"	"OMIM:612740"	"PORPHYRIA, ACUTE HEPATIC 612740"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:53"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:395.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_397-OMIM_300752-HP_0001417-GENCC_100002"	"HGNC:397"	"ALAS2"	"MONDO:0010420"	"X-linked erythropoietic protoporphyria"	"OMIM:300752"	"Protoporphyria, erythropoietic, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:397"	"ALAS2"	"OMIM:300752"	"PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, 300752"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:54"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:397.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_397-OMIM_300751-HP_0001417-GENCC_100002"	"HGNC:397"	"ALAS2"	"MONDO:0020721"	"X-linked sideroblastic anemia 1"	"OMIM:300751"	"Anemia, sideroblastic, 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:397"	"ALAS2"	"OMIM:300751"	"ANEMIA, SIDEROBLASTIC, X-LINKED, 300751"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:54"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:397.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2321-OMIM_121300-HP_0000006-GENCC_100002"	"HGNC:2321"	"CPOX"	"MONDO:0007369"	"hereditary coproporphyria"	"OMIM:121300"	"Coproporphyria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2321"	"CPOX"	"OMIM:121300"	"COPROPORPHYRIA 121300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:54"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:2321.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2321-OMIM_618892-HP_0000007-GENCC_100002"	"HGNC:2321"	"CPOX"	"MONDO:0030048"	"harderoporphyria"	"OMIM:618892"	"Harderoporphyria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2321"	"CPOX"	"OMIM:618892"	"HARDEROPORPHYRIA  618892"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:55"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:2321.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2321-OMIM_121300-HP_0000007-GENCC_100002"	"HGNC:2321"	"CPOX"	"MONDO:0007369"	"hereditary coproporphyria"	"OMIM:121300"	"Coproporphyria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2321"	"CPOX"	"OMIM:121300"	"COPROPORPHYRIA 121300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:55"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:2321.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_3647-OMIM_177000-HP_0000007-GENCC_100002"	"HGNC:3647"	"FECH"	"MONDO:0008319"	"protoporphyria, erythropoietic, 1"	"OMIM:177000"	"Protoporphyria, erythropoietic, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3647"	"FECH"	"OMIM:177000"	"PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, 177000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:55"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:3647.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4982-OMIM_176000-HP_0000006-GENCC_100002"	"HGNC:4982"	"HMBS"	"MONDO:0008294"	"acute intermittent porphyria"	"OMIM:176000"	"Porphyria, acute intermittent"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4982"	"HMBS"	"OMIM:176000"	"PORPHYRIA, ACUTE INTERMITTENT, 176000"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:56"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:4982.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_9280-OMIM_176200-HP_0000006-GENCC_100002"	"HGNC:9280"	"PPOX"	"MONDO:0008297"	"variegate porphyria"	"OMIM:176200"	"Variegate porphyria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9280"	"PPOX"	"OMIM:176200"	"PORPHYRIA VARIEGATA 176200"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:56"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:9280.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9280-OMIM_176200-HP_0000007-GENCC_100002"	"HGNC:9280"	"PPOX"	"MONDO:0008297"	"variegate porphyria"	"OMIM:176200"	"Variegate porphyria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9280"	"PPOX"	"OMIM:176200"	"PORPHYRIA VARIEGATA 176200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:57"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:9280.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_12591-OMIM_176100-HP_0000006-GENCC_100002"	"HGNC:12591"	"UROD"	"MONDO:0008296"	"familial porphyria cutanea tarda"	"OMIM:176100"	"Porphyria cutanea tarda"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12591"	"UROD"	"OMIM:176100"	"Porphyria, hepatoerythropoietic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:57"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:12591.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_12591-OMIM_176100-HP_0000007-GENCC_100002"	"HGNC:12591"	"UROD"	"MONDO:0008296"	"familial porphyria cutanea tarda"	"OMIM:176100"	"Porphyria cutanea tarda"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12591"	"UROD"	"OMIM:176100"	"Porphyria, hepatoerythropoietic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:57"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:12591.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_12592-OMIM_263700-HP_0000007-GENCC_100002"	"HGNC:12592"	"UROS"	"MONDO:0009902"	"cutaneous porphyria"	"OMIM:263700"	"Porphyria, congenital erythropoietic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12592"	"UROS"	"OMIM:263700"	"PORPHYRIA, CONGENITAL ERYTHROPOIETIC 263700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:03:57"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:12592.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4170-OMIM_300367-HP_0001417-GENCC_100003"	"HGNC:4170"	"GATA1"	"MONDO:0010308"	"thrombocytopenia, X-linked, with or without dyserythropoietic anemia"	"OMIM:300367"	"Thrombocytopenia, X-linked, with or without dyserythropoietic anemia"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4170"	"GATA1"	"OMIM:300367"	"THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, 300367"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:03:58"	"https://panelapp.genomicsengland.co.uk/panels/513"	""	""	""	"000104.pa513.v1.6.hgnc:4170.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_318-OMIM_208400-HP_0000007-GENCC_100002"	"HGNC:318"	"AGA"	"MONDO:0008830"	"aspartylglucosaminuria"	"OMIM:208400"	"Aspartylglucosaminuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:318"	"AGA"	"OMIM:208400"	"ASPARTYLGLUCOSAMINURIA 208400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:58"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:318.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_735-OMIM_228000-HP_0000007-GENCC_100002"	"HGNC:735"	"ASAH1"	"MONDO:0009218"	"Farber lipogranulomatosis"	"OMIM:228000"	"Farber lipogranulomatosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:735"	"ASAH1"	"OMIM:228000"	"FARBER LIPOGRANULOMATOSIS 228000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:58"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:735.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2518-OMIM_219800-HP_0000007-GENCC_100002"	"HGNC:2518"	"CTNS"	"MONDO:0100151"	"nephropathic cystinosis"	"OMIM:219800"	"Cystinosis, atypical nephropathic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2518"	"CTNS"	"OMIM:219800"	"CYSTINOSIS, NEPHROPATHIC 219800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:58"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:2518.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2518-OMIM_219900-HP_0000007-GENCC_100002"	"HGNC:2518"	"CTNS"	"MONDO:0009066"	"juvenile nephropathic cystinosis"	"OMIM:219900"	"Cystinosis, late-onset juvenile or adolescent nephropathic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2518"	"CTNS"	"OMIM:219900"	"CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC 219900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:59"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:2518.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_2518-OMIM_219750-HP_0000007-GENCC_100002"	"HGNC:2518"	"CTNS"	"MONDO:0009064"	"ocular cystinosis"	"OMIM:219750"	"Cystinosis, ocular nonnephropathic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2518"	"CTNS"	"OMIM:219750"	"CYSTINOSIS, OCULAR NONNEPHROPATHIC 219750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:59"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:2518.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_9251-OMIM_256540-HP_0000007-GENCC_100002"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"galactosialidosis"	"OMIM:256540"	"Galactosialidosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9251"	"CTSA"	"OMIM:256540"	"GALACTOSIALIDOSIS 256540"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:59"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:9251.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2536-OMIM_265800-HP_0000007-GENCC_100002"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"OMIM:265800"	"Pycnodysostosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2536"	"CTSK"	"OMIM:265800"	"PYCNODYSOSTOSIS 265800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:59"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:2536.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4006-OMIM_230000-HP_0000007-GENCC_100002"	"HGNC:4006"	"FUCA1"	"MONDO:0009254"	"fucosidosis"	"OMIM:230000"	"Fucosidosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4006"	"FUCA1"	"OMIM:230000"	"FUCOSIDOSIS 230000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:59"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4006.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4115-OMIM_245200-HP_0000007-GENCC_100002"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"OMIM:245200"	"Krabbe disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4115"	"GALC"	"OMIM:245200"	"KRABBE DISEASE 245200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:03:59"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4115.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4122-OMIM_253000-HP_0000007-GENCC_100002"	"HGNC:4122"	"GALNS"	"MONDO:0009659"	"mucopolysaccharidosis type 4A"	"OMIM:253000"	"Mucopolysaccharidosis IVA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4122"	"GALNS"	"OMIM:253000"	"MUCOPOLYSACCHARIDOSIS IVA 253000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:00"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4122.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4177-OMIM_230800-HP_0000007-GENCC_100002"	"HGNC:4177"	"GBA1"	"MONDO:0009265"	"Gaucher disease type I"	"OMIM:230800"	"Gaucher disease, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4177"	"GBA"	"OMIM:230800"	"GAUCHER DISEASE, TYPE I 230800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:00"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4177.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4177-OMIM_231000-HP_0000007-GENCC_100002"	"HGNC:4177"	"GBA1"	"MONDO:0009267"	"Gaucher disease type III"	"OMIM:231000"	"Gaucher disease, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4177"	"GBA"	"OMIM:231000"	"GAUCHER DISEASE, TYPE III 231000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:00"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4177.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4177-OMIM_231005-HP_0000007-GENCC_100002"	"HGNC:4177"	"GBA1"	"MONDO:0009268"	"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"	"OMIM:231005"	"Gaucher disease, type IIIC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4177"	"GBA"	"OMIM:231005"	"GAUCHER DISEASE, TYPE IIIC 231005"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:01"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4177.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_4177-OMIM_608013-HP_0000007-GENCC_100002"	"HGNC:4177"	"GBA1"	"MONDO:0011945"	"Gaucher disease perinatal lethal"	"OMIM:608013"	"Gaucher disease, perinatal lethal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4177"	"GBA"	"OMIM:608013"	"GAUCHER DISEASE, PERINATAL LETHAL 608013"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:01"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4177.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_4177-OMIM_230900-HP_0000007-GENCC_100002"	"HGNC:4177"	"GBA1"	"MONDO:0009266"	"Gaucher disease type II"	"OMIM:230900"	"Gaucher disease, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4177"	"GBA"	"OMIM:230900"	"GAUCHER DISEASE, TYPE II 230900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:02"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4177.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_4298-OMIM_253010-HP_0000007-GENCC_100002"	"HGNC:4298"	"GLB1"	"MONDO:0009660"	"mucopolysaccharidosis type 4B"	"OMIM:253010"	"Mucopolysaccharidosis type IVB (Morquio)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4298"	"GLB1"	"OMIM:253010"	"MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO 253010"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:02"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4298.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4298-OMIM_230650-HP_0000007-GENCC_100002"	"HGNC:4298"	"GLB1"	"MONDO:0009262"	"GM1 gangliosidosis type 3"	"OMIM:230650"	"GM1-gangliosidosis, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4298"	"GLB1"	"OMIM:230650"	"GM1-GANGLIOSIDOSIS, TYPE III 230650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:02"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4298.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4298-OMIM_230500-HP_0000007-GENCC_100002"	"HGNC:4298"	"GLB1"	"MONDO:0009260"	"GM1 gangliosidosis type 1"	"OMIM:230500"	"GM1-gangliosidosis, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4298"	"GLB1"	"OMIM:230500"	"GM1-GANGLIOSIDOSIS, TYPE I 230500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:03"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4298.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_4298-OMIM_230600-HP_0000007-GENCC_100002"	"HGNC:4298"	"GLB1"	"MONDO:0009261"	"GM1 gangliosidosis type 2"	"OMIM:230600"	"GM1-gangliosidosis, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4298"	"GLB1"	"OMIM:230600"	"GM1-GANGLIOSIDOSIS, TYPE II 230600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:03"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4298.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_4367-OMIM_272750-HP_0000007-GENCC_100002"	"HGNC:4367"	"GM2A"	"MONDO:0010099"	"Tay-Sachs disease AB variant"	"OMIM:272750"	"GM2-gangliosidosis, AB variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4367"	"GM2A"	"OMIM:272750"	"GM2-GANGLIOSIDOSIS, AB VARIANT 272750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:03"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4367.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23657-OMIM_269921-HP_0000006-GENCC_100002"	"HGNC:23657"	"GNE"	"MONDO:0010028"	"sialuria"	"OMIM:269921"	"Sialuria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23657"	"GNE"	"OMIM:269921"	"SIALURIA 269921 (AD"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:23657.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23657-OMIM_605820-HP_0000007-GENCC_100002"	"HGNC:23657"	"GNE"	"MONDO:0011603"	"GNE myopathy"	"OMIM:605820"	"Nonaka myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23657"	"GNE"	"OMIM:605820"	"NONAKA MYOPATHY 605820"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:23657.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_29670-OMIM_252500-HP_0000007-GENCC_100002"	"HGNC:29670"	"GNPTAB"	"MONDO:0009650"	"mucolipidosis type II"	"OMIM:252500"	"Mucolipidosis II alpha/beta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29670"	"GNPTAB"	"OMIM:252500"	"MUCOLIPIDOSIS II ALPHA/BETA 252500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:29670.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_29670-OMIM_252600-HP_0000007-GENCC_100002"	"HGNC:29670"	"GNPTAB"	"MONDO:0018931"	"mucolipidosis type III, alpha/beta"	"OMIM:252600"	"Mucolipidosis III alpha/beta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29670"	"GNPTAB"	"OMIM:252600"	"Mucolipidosis III alpha/beta OMIM:252600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:29670.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_23026-OMIM_252605-HP_0000007-GENCC_100002"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"OMIM:252605"	"Mucolipidosis III gamma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23026"	"GNPTG"	"OMIM:252605"	"MUCOLIPIDOSIS III GAMMA 252605"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:23026.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4422-OMIM_252940-HP_0000007-GENCC_100002"	"HGNC:4422"	"GNS"	"MONDO:0009658"	"mucopolysaccharidosis type 3D"	"OMIM:252940"	"Mucopolysaccharidosis type IIID"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4422"	"GNS"	"OMIM:252940"	"MUCOPOLYSACCHARIDOSIS TYPE IIID 252940"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4422.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4696-OMIM_253220-HP_0000007-GENCC_100002"	"HGNC:4696"	"GUSB"	"MONDO:0009662"	"mucopolysaccharidosis type 7"	"OMIM:253220"	"Mucopolysaccharidosis VII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4696"	"GUSB"	"OMIM:253220"	"MUCOPOLYSACCHARIDOSIS VII 253220"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4696.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4878-OMIM_272800-HP_0000007-GENCC_100002"	"HGNC:4878"	"HEXA"	"MONDO:0010100"	"Tay-Sachs disease"	"OMIM:272800"	"Tay-Sachs disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4878"	"HEXA"	"OMIM:272800"	"GM2-GANGLIOSIDOSIS, SEVERAL FORMS 272800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4878.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4879-OMIM_268800-HP_0000007-GENCC_100002"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"OMIM:268800"	"Sandhoff disease, infantile, juvenile, and adult forms"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4879"	"HEXB"	"OMIM:268800"	"SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS 268800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:4879.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26527-OMIM_252930-HP_0000007-GENCC_100002"	"HGNC:26527"	"HGSNAT"	"MONDO:0009657"	"mucopolysaccharidosis type 3C"	"OMIM:252930"	"Mucopolysaccharidosis type IIIC (Sanfilippo C)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26527"	"HGSNAT"	"OMIM:252930"	"MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C 252930"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:04"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:26527.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5320-OMIM_601492-HP_0000007-GENCC_100002"	"HGNC:5320"	"HYAL1"	"MONDO:0011093"	"mucopolysaccharidosis type 9"	"OMIM:601492"	"Mucopolysaccharidosis type IX"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5320"	"HYAL1"	"OMIM:601492"	"?MUCOPOLYSACCHARIDOSIS TYPE IX 601492"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:05"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:5320.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5391-OMIM_607014-HP_0000007-GENCC_100002"	"HGNC:5391"	"IDUA"	"MONDO:0011758"	"Hurler syndrome"	"OMIM:607014"	"Mucopolysaccharidosis Ih"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5391"	"IDUA"	"OMIM:607014"	"MUCOPOLYSACCHARIDOSIS IH 607014"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:05"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:5391.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5391-OMIM_607016-HP_0000007-GENCC_100002"	"HGNC:5391"	"IDUA"	"MONDO:0011760"	"Scheie syndrome"	"OMIM:607016"	"Mucopolysaccharidosis Is"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5391"	"IDUA"	"OMIM:607016"	"MUCOPOLYSACCHARIDOSIS IS 607016"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:05"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:5391.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_5391-OMIM_607015-HP_0000007-GENCC_100002"	"HGNC:5391"	"IDUA"	"MONDO:0011759"	"Hurler-Scheie syndrome"	"OMIM:607015"	"Mucopolysaccharidosis Ih/s"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5391"	"IDUA"	"OMIM:607015"	"MUCOPOLYSACCHARIDOSIS IH/S 607015"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:05"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:5391.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6617-OMIM_278000-HP_0000007-GENCC_100002"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"OMIM:278000"	"Cholesteryl ester storage disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6617"	"LIPA"	"OMIM:278000"	"WOLMAN DISEASE 278000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:05"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:6617.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6826-OMIM_248500-HP_0000007-GENCC_100002"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"alpha-mannosidosis"	"OMIM:248500"	"Mannosidosis, alpha-, types I and II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6826"	"MAN2B1"	"OMIM:248500"	"MANNOSIDOSIS, ALPHA-, TYPES I AND II 248500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:05"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:6826.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6831-OMIM_248510-HP_0000007-GENCC_100002"	"HGNC:6831"	"MANBA"	"MONDO:0009562"	"beta-mannosidosis"	"OMIM:248510"	"Mannosidosis, beta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6831"	"MANBA"	"OMIM:248510"	"MANNOSIDOSIS, BETA 248510"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:05"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:6831.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13356-OMIM_252650-HP_0000007-GENCC_100002"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"mucolipidosis type IV"	"OMIM:252650"	"Mucolipidosis IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13356"	"MCOLN1"	"OMIM:252650"	"MUCOLIPIDOSIS IV 252650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:06"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:13356.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7631-OMIM_609241-HP_0000007-GENCC_100002"	"HGNC:7631"	"NAGA"	"MONDO:0012221"	"alpha-N-acetylgalactosaminidase deficiency type 1"	"OMIM:609241"	"Schindler disease, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7631"	"NAGA"	"OMIM:609241"	"SCHINDLER DISEASE, TYPE III 609241"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:06"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:7631.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_7631-OMIM_609242-HP_0000007-GENCC_100002"	"HGNC:7631"	"NAGA"	"MONDO:0012222"	"alpha-N-acetylgalactosaminidase deficiency type 2"	"OMIM:609242"	"Kanzaki disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7631"	"NAGA"	"OMIM:609242"	"Kanzaki disease OMIM:609242"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:06"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:7631.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_7632-OMIM_252920-HP_0000007-GENCC_100002"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"OMIM:252920"	"Mucopolysaccharidosis type IIIB (Sanfilippo B)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7632"	"NAGLU"	"OMIM:252920"	"MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B 252920"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:06"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:7632.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7758-OMIM_256550-HP_0000007-GENCC_100002"	"HGNC:7758"	"NEU1"	"MONDO:0009738"	"sialidosis type 2"	"OMIM:256550"	"Sialidosis, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7758"	"NEU1"	"OMIM:256550"	"SIALIDOSIS, TYPE I 256550"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:06"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:7758.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_7897-OMIM_257220-HP_0000007-GENCC_100002"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"OMIM:257220"	"Niemann-Pick disease, type D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7897"	"NPC1"	"OMIM:257220"	"NIEMANN-PICK DISEASE, TYPE C1 257220"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:07"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:7897.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_14537-OMIM_607625-HP_0000007-GENCC_100002"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"OMIM:607625"	"Niemann-pick disease, type C2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14537"	"NPC2"	"OMIM:607625"	"NIEMANN-PICK DISEASE, TYPE C2 607625"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:07"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:14537.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9498-OMIM_611722-HP_0000007-GENCC_100002"	"HGNC:9498"	"PSAP"	"MONDO:0012720"	"Krabbe disease due to saposin A deficiency"	"OMIM:611722"	"Krabbe disease, atypical"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9498"	"PSAP"	"OMIM:611722"	"KRABBE DISEASE, ATYPICAL 611722"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:07"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:9498.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9498-OMIM_611721-HP_0000007-GENCC_100002"	"HGNC:9498"	"PSAP"	"MONDO:0012719"	"combined PSAP deficiency"	"OMIM:611721"	"Combined SAP deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9498"	"PSAP"	"OMIM:611721"	"COMBINED SAP DEFICIENCY 611721"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:07"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:9498.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9498-OMIM_610539-HP_0000007-GENCC_100002"	"HGNC:9498"	"PSAP"	"MONDO:0012517"	"Gaucher disease due to saposin C deficiency"	"OMIM:610539"	"Gaucher disease, atypical"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9498"	"PSAP"	"OMIM:610539"	"GAUCHER DISEASE, ATYPICAL 610539"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:08"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:9498.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_9498-OMIM_249900-HP_0000007-GENCC_100002"	"HGNC:9498"	"PSAP"	"MONDO:0009590"	"metachromatic leukodystrophy due to saposin B deficiency"	"OMIM:249900"	"Metachromatic leukodystrophy due to SAP-b deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9498"	"PSAP"	"OMIM:249900"	"METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY 249900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:08"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:9498.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_10818-OMIM_252900-HP_0000007-GENCC_100002"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"OMIM:252900"	"Mucopolysaccharidosis type IIIA (Sanfilippo A)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10818"	"SGSH"	"OMIM:252900"	"MUCOPOLYSACCHARIDOSIS TYPE IIIA (SANFILIPPO A 252900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:08"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:10818.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10933-OMIM_604369-HP_0000007-GENCC_100002"	"HGNC:10933"	"SLC17A5"	"MONDO:0011449"	"Salla disease"	"OMIM:604369"	"Salla disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10933"	"SLC17A5"	"OMIM:604369"	"SALLA DISEASE 604369"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:08"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:10933.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10933-OMIM_269920-HP_0000007-GENCC_100002"	"HGNC:10933"	"SLC17A5"	"MONDO:0010027"	"free sialic acid storage disease, infantile form"	"OMIM:269920"	"Sialic acid storage disorder, infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10933"	"SLC17A5"	"OMIM:269920"	"SIALIC ACID STORAGE DISORDER, INFANTILE 269920"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:09"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:10933.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11120-OMIM_257200-HP_0000007-GENCC_100002"	"HGNC:11120"	"SMPD1"	"MONDO:0009756"	"Niemann-Pick disease type A"	"OMIM:257200"	"Niemann-Pick disease, type A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11120"	"SMPD1"	"OMIM:257200"	"NIEMANN-PICK DISEASE, TYPE A 257200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:09"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:11120.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11120-OMIM_607616-HP_0000007-GENCC_100002"	"HGNC:11120"	"SMPD1"	"MONDO:0011871"	"Niemann-Pick disease type B"	"OMIM:607616"	"Niemann-Pick disease, type B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11120"	"SMPD1"	"OMIM:607616"	"NIEMANN-PICK DISEASE, TYPE B 607616"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-18 13:04:09"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:11120.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_24102-OMIM_618144-HP_0000007-GENCC_100003"	"HGNC:24102"	"ARSG"	"MONDO:0029141"	"Usher syndrome, type 4"	"OMIM:618144"	"Usher syndrome, type IV"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24102"	"ARSG"	"OMIM:618144"	"USHER SYNDROME, TYPE IV 618144"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-18 13:04:10"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:24102.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30213-OMIM_617225-HP_0000007-GENCC_100003"	"HGNC:30213"	"ATP13A2"	"MONDO:0014975"	"autosomal recessive spastic paraplegia type 78"	"OMIM:617225"	"Spastic paraplegia 78, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30213"	"ATP13A2"	"OMIM:617225"	"SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, OMIM:617225"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-18 13:04:10"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:30213.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18179-OMIM_617303-HP_0000007-GENCC_100003"	"HGNC:18179"	"VPS33A"	"MONDO:0015012"	"mucopolysaccharidosis-plus syndrome"	"OMIM:617303"	"Mucopolysaccharidosis-plus syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18179"	"VPS33A"	"OMIM:617303"	"MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (MIM#617303"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-18 13:04:11"	"https://panelapp.genomicsengland.co.uk/panels/529"	""	""	""	"000104.pa529.v1.3.hgnc:18179.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1366-OMIM_274150-HP_0000007-GENCC_100002"	"HGNC:1366"	"ADAMTS13"	"MONDO:0010122"	"congenital thrombotic thrombocytopenic purpura"	"OMIM:274150"	"Thrombotic thrombocytopenic purpura, hereditary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1366"	"ADAMTS13"	"OMIM:274150"	"Thrombotic thrombocytopenic purpura, hereditary"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:11"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:1366.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3535-OMIM_188050-HP_0000006-GENCC_100002"	"HGNC:3535"	"F2"	"MONDO:0008559"	"thrombophilia due to thrombin defect"	"OMIM:188050"	"Thrombophilia 1 due to thrombin defect"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3535"	"F2"	"OMIM:188050"	"188050 THROMBOPHILIA DUE TO THROMBIN DEFECT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:11"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:3535.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3542-OMIM_188055-HP_0000006-GENCC_100002"	"HGNC:3542"	"F5"	"MONDO:0008560"	"thrombophilia due to activated protein C resistance"	"OMIM:188055"	"{Thrombophilia, susceptibility to, due to factor V Leiden}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3542"	"F5"	"OMIM:188055"	"Thrombophilia due to activated protein C resistance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:11"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:3542.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3661-MONDO_0002305-HP_0000006-GENCC_100002"	"HGNC:3661"	"FGA"	"MONDO:0002305"	"thrombophilia"	"MONDO:0002305"	"thrombophilia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3661"	"FGA"	"MONDO:0002305"	"Thrombophilia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:12"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:3661.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3661-MONDO_0002305-HP_0000007-GENCC_100002"	"HGNC:3661"	"FGA"	"MONDO:0002305"	"thrombophilia"	"MONDO:0002305"	"thrombophilia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3661"	"FGA"	"MONDO:0002305"	"Thrombophilia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:12"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:3661.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_3662-MONDO_0002305-HP_0000006-GENCC_100002"	"HGNC:3662"	"FGB"	"MONDO:0002305"	"thrombophilia"	"MONDO:0002305"	"thrombophilia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3662"	"FGB"	"MONDO:0002305"	"Thrombophilia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:12"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:3662.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3662-MONDO_0002305-HP_0000007-GENCC_100002"	"HGNC:3662"	"FGB"	"MONDO:0002305"	"thrombophilia"	"MONDO:0002305"	"thrombophilia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3662"	"FGB"	"MONDO:0002305"	"Thrombophilia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:12"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:3662.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_3694-MONDO_0002305-HP_0000006-GENCC_100002"	"HGNC:3694"	"FGG"	"MONDO:0002305"	"thrombophilia"	"MONDO:0002305"	"thrombophilia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3694"	"FGG"	"MONDO:0002305"	"Thrombophilia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:12"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:3694.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3694-MONDO_0002305-HP_0000007-GENCC_100002"	"HGNC:3694"	"FGG"	"MONDO:0002305"	"thrombophilia"	"MONDO:0002305"	"thrombophilia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3694"	"FGG"	"MONDO:0002305"	"Thrombophilia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:12"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:3694.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_5181-OMIM_613116-HP_0000006-GENCC_100002"	"HGNC:5181"	"HRG"	"MONDO:0013143"	"hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"	"OMIM:613116"	"Thrombophilia 11 due to HRG deficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5181"	"HRG"	"OMIM:613116"	"613116 THROMBOPHILIA DUE TO HRG DEFICIENCY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:12"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:5181.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9451-OMIM_176860-HP_0000006-GENCC_100002"	"HGNC:9451"	"PROC"	"MONDO:0008316"	"thrombophilia due to protein C deficiency, autosomal dominant"	"OMIM:176860"	"Thrombophilia 3 due to protein C deficiency, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9451"	"PROC"	"OMIM:176860"	"176860 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:13"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:9451.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9451-OMIM_612304-HP_0000007-GENCC_100002"	"HGNC:9451"	"PROC"	"MONDO:0012860"	"thrombophilia due to protein C deficiency, autosomal recessive"	"OMIM:612304"	"Thrombophilia 3 due to protein C deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9451"	"PROC"	"OMIM:612304"	"612304 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:13"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:9451.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_9456-OMIM_612336-HP_0000006-GENCC_100002"	"HGNC:9456"	"PROS1"	"MONDO:0012868"	"thrombophilia due to protein S deficiency, autosomal dominant"	"OMIM:612336"	"Thrombophilia 5 due to protein S deficiency, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9456"	"PROS1"	"OMIM:612336"	"612336 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:14"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:9456.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9456-OMIM_614514-HP_0000007-GENCC_100002"	"HGNC:9456"	"PROS1"	"MONDO:0013791"	"thrombophilia due to protein S deficiency, autosomal recessive"	"OMIM:614514"	"Thrombophilia 5 due to protein S deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9456"	"PROS1"	"OMIM:614514"	"614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:14"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:9456.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_775-OMIM_613118-HP_0000006-GENCC_100002"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"OMIM:613118"	"Thrombophilia 7 due to antithrombin III deficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:775"	"SERPINC1"	"OMIM:613118"	"613118 THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:14"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:775.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_775-OMIM_613118-HP_0000007-GENCC_100002"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"OMIM:613118"	"Thrombophilia 7 due to antithrombin III deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:775"	"SERPINC1"	"OMIM:613118"	"613118 THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:15"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:775.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_4838-OMIM_612356-HP_0000006-GENCC_100002"	"HGNC:4838"	"SERPIND1"	"MONDO:0012876"	"heparin cofactor 2 deficiency"	"OMIM:612356"	"Thrombophilia 10 due to heparin cofactor II deficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4838"	"SERPIND1"	"OMIM:612356"	"612356 THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:15"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:4838.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11784-OMIM_614486-HP_0000006-GENCC_100002"	"HGNC:11784"	"THBD"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"OMIM:614486"	"Thrombophilia 12 due to thrombomodulin defect"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11784"	"THBD"	"OMIM:614486"	"614486 THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:16"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:11784.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9051-OMIM_612348-HP_0000007-GENCC_100003"	"HGNC:9051"	"PLAT"	"MONDO:0012872"	"thrombophilia, familial, due to decreased release of tissue plasminogen activator"	"OMIM:612348"	"?Thrombophilia 9 due to decreased release of tissue plasminogen"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9051"	"PLAT"	"OMIM:612348"	"Thrombophilia, familial, due to decreased release of PLAT"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:04:16"	"https://panelapp.genomicsengland.co.uk/panels/516"	""	""	""	"000104.pa516.v1.4.hgnc:9051.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6631-OMIM_227300-HP_0000007-GENCC_100002"	"HGNC:6631"	"LMAN1"	"MONDO:0009206"	"factor V and factor VIII, combined deficiency of, type 1"	"OMIM:227300"	"Combined factor V and VIII deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6631"	"LMAN1"	"OMIM:227300"	"227300 COMBINED FACTOR V AND VIII DEFICIENCY"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:16"	"https://panelapp.genomicsengland.co.uk/panels/517"	""	""	""	"000104.pa517.v1.4.hgnc:6631.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18451-OMIM_613625-HP_0000007-GENCC_100002"	"HGNC:18451"	"MCFD2"	"MONDO:0013331"	"factor 5 and Factor VIII, combined deficiency of, 2"	"OMIM:613625"	"Factor V and factor VIII, combined deficiency of"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18451"	"MCFD2"	"OMIM:613625"	"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 613625"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:04:17"	"https://panelapp.genomicsengland.co.uk/panels/517"	""	""	""	"000104.pa517.v1.4.hgnc:18451.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1232-OMIM_609820-HP_0000006-GENCC_100002"	"HGNC:1232"	"EGLN1"	"MONDO:0012353"	"erythrocytosis, familial, 3"	"OMIM:609820"	"Erythrocytosis, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1232"	"EGLN1"	"OMIM:609820"	"Erythrocytosis, familial, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:17"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:1232.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3374-OMIM_611783-HP_0000006-GENCC_100002"	"HGNC:3374"	"EPAS1"	"MONDO:0012729"	"erythrocytosis, familial, 4"	"OMIM:611783"	"Erythrocytosis, familial, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3374"	"EPAS1"	"OMIM:611783"	"Erythrocytosis, familial, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:18"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:3374.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3415-OMIM_617907-HP_0000006-GENCC_100002"	"HGNC:3415"	"EPO"	"MONDO:0033483"	"erythrocytosis, familial, 5"	"OMIM:617907"	"Erythrocytosis, familial, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3415"	"EPO"	"OMIM:617907"	"ERYTHROCYTOSIS, FAMILIAL, 5 617907"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:18"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:3415.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3416-OMIM_133100-HP_0000006-GENCC_100002"	"HGNC:3416"	"EPOR"	"MONDO:0007572"	"primary familial polycythemia due to EPO receptor mutation"	"OMIM:133100"	"[Erythrocytosis, familial, 1]"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3416"	"EPOR"	"OMIM:133100"	"[Erythrocytosis, familial, 1]"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:18"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:3416.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4823-OMIM_617981-HP_0000006-GENCC_100002"	"HGNC:4823"	"HBA1"	"MONDO:0054802"	"erythrocytosis, familial, 7"	"OMIM:617981"	"Erythrocytosis, familial, 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4823"	"HBA1"	"OMIM:617981"	"Erythrocytosis 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:19"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:4823.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4824-OMIM_617981-HP_0000006-GENCC_100002"	"HGNC:4824"	"HBA2"	"MONDO:0054802"	"erythrocytosis, familial, 7"	"OMIM:617981"	"Erythrocytosis, familial, 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4824"	"HBA2"	"OMIM:617981"	"ERYTHROCYTOSIS 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:19"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:4824.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4827-OMIM_617980-HP_0000006-GENCC_100002"	"HGNC:4827"	"HBB"	"MONDO:0054801"	"erythrocytosis, familial, 6"	"OMIM:617980"	"Erythrocytosis, familial, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4827"	"HBB"	"OMIM:617980"	"Erythrocytosis 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:19"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:4827.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12687-OMIM_263400-HP_0000007-GENCC_100002"	"HGNC:12687"	"VHL"	"MONDO:0009892"	"Chuvash polycythemia"	"OMIM:263400"	"Erythrocytosis, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12687"	"VHL"	"OMIM:263400"	"Erythrocytosis, familial, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:20"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:12687.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1093-OMIM_222800-HP_0000007-GENCC_100003"	"HGNC:1093"	"BPGM"	"MONDO:0009113"	"hemolytic anemia due to diphosphoglycerate mutase deficiency"	"OMIM:222800"	"Erythrocytosis, familial, 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1093"	"BPGM"	"OMIM:222800"	"ERYTHROCYTOSIS, FAMILIAL, 8 222800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-09-30 13:04:20"	"https://panelapp.genomicsengland.co.uk/panels/157"	""	""	""	"000104.pa157.v1.22.hgnc:1093.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6192-OMIM_614521-HP_0000006-GENCC_100002"	"HGNC:6192"	"JAK2"	"MONDO:0013794"	"thrombocythemia 3"	"OMIM:614521"	"Thrombocythemia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6192"	"JAK2"	"OMIM:614521"	"THROMBOCYTHEMIA 3, 614521"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:21"	"https://panelapp.genomicsengland.co.uk/panels/945"	""	""	""	"000104.pa945.v1.2.hgnc:6192.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7217-OMIM_601977-HP_0000006-GENCC_100002"	"HGNC:7217"	"MPL"	"MONDO:0011173"	"thrombocythemia 2"	"OMIM:601977"	"Thrombocythemia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7217"	"MPL"	"OMIM:601977"	"THROMBOCYTHEMIA 2, 601977"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:21"	"https://panelapp.genomicsengland.co.uk/panels/945"	""	""	""	"000104.pa945.v1.2.hgnc:7217.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11795-OMIM_187950-HP_0000006-GENCC_100002"	"HGNC:11795"	"THPO"	"MONDO:0008554"	"thrombocythemia 1"	"OMIM:187950"	"Thrombocythemia, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11795"	"THPO"	"OMIM:187950"	"THROMBOCYTHEMIA 1, 187950"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-30 13:04:21"	"https://panelapp.genomicsengland.co.uk/panels/945"	""	""	""	"000104.pa945.v1.2.hgnc:11795.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_321-OMIM_232400-HP_0000007-GENCC_100002"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"OMIM:232400"	"Glycogen storage disease IIIb"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:321"	"AGL"	"OMIM:232400"	"GLYCOGEN STORAGE DISEASE IIIA, 232400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:21"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:321.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_414-OMIM_611881-HP_0000007-GENCC_100002"	"HGNC:414"	"ALDOA"	"MONDO:0012747"	"glycogen storage disease due to aldolase A deficiency"	"OMIM:611881"	"Glycogen storage disease XII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:414"	"ALDOA"	"OMIM:611881"	"GLYCOGEN STORAGE DISEASE XII 611881"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:21"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:414.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_417-OMIM_229600-HP_0000007-GENCC_100002"	"HGNC:417"	"ALDOB"	"MONDO:0009249"	"hereditary fructose intolerance"	"OMIM:229600"	"Fructose intolerance, hereditary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:417"	"ALDOB"	"OMIM:229600"	"FRUCTOSE INTOLERANCE, HEREDITARY 229600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:21"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:417.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3354-OMIM_612932-HP_0000007-GENCC_100002"	"HGNC:3354"	"ENO3"	"MONDO:0013046"	"glycogen storage disease due to muscle beta-enolase deficiency"	"OMIM:612932"	"Glycogen storage disease XIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3354"	"ENO3"	"OMIM:612932"	"GLYCOGEN STORAGE DISEASE XIII 612932"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:22"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:3354.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3606-OMIM_229700-HP_0000007-GENCC_100002"	"HGNC:3606"	"FBP1"	"MONDO:0009251"	"fructose-1,6-bisphosphatase deficiency"	"OMIM:229700"	"Fructose-1,6-bisphosphatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3606"	"FBP1"	"OMIM:229700"	"FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY 229700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:22"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:3606.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4065-OMIM_232300-HP_0000007-GENCC_100002"	"HGNC:4065"	"GAA"	"MONDO:0009290"	"glycogen storage disease II"	"OMIM:232300"	"Glycogen storage disease II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4065"	"GAA"	"OMIM:232300"	"GLYCOGEN STORAGE DISEASE II 232300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:22"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:4065.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4180-OMIM_232500-HP_0000007-GENCC_100002"	"HGNC:4180"	"GBE1"	"MONDO:0009292"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"OMIM:232500"	"Glycogen storage disease IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4180"	"GBE1"	"OMIM:232500"	"GLYCOGEN STORAGE DISEASE IV 232500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:22"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:4180.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4699-OMIM_613507-HP_0000007-GENCC_100002"	"HGNC:4699"	"GYG1"	"MONDO:0013291"	"glycogen storage disease XV"	"OMIM:613507"	"?Glycogen storage disease XV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4699"	"GYG1"	"OMIM:613507"	"GLYCOGEN STORAGE DISEASE XV 613507"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:23"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:4699.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4706-OMIM_611556-HP_0000007-GENCC_100002"	"HGNC:4706"	"GYS1"	"MONDO:0012693"	"glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"OMIM:611556"	"Glycogen storage disease 0, muscle"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4706"	"GYS1"	"OMIM:611556"	"GLYCOGEN STORAGE DISEASE 0, MUSCLE 611556"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:23"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:4706.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4707-OMIM_240600-HP_0000007-GENCC_100002"	"HGNC:4707"	"GYS2"	"MONDO:0009414"	"glycogen storage disorder due to hepatic glycogen synthase deficiency"	"OMIM:240600"	"Glycogen storage disease 0, liver"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4707"	"GYS2"	"OMIM:240600"	"GLYCOGEN STORAGE DISEASE 0, LIVER 240600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:24"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:4707.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6535-OMIM_612933-HP_0000007-GENCC_100002"	"HGNC:6535"	"LDHA"	"MONDO:0013047"	"glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"	"OMIM:612933"	"Glycogen storage disease XI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6535"	"LDHA"	"OMIM:612933"	"GLYCOGEN STORAGE DISEASE XI 612933"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:24"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:6535.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8877-OMIM_232800-HP_0000007-GENCC_100002"	"HGNC:8877"	"PFKM"	"MONDO:0009295"	"glycogen storage disease VII"	"OMIM:232800"	"Glycogen storage disease VII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8877"	"PFKM"	"OMIM:232800"	"GLYCOGEN STORAGE DISEASE VII 232800"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:25"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:8877.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8889-OMIM_261670-HP_0000007-GENCC_100002"	"HGNC:8889"	"PGAM2"	"MONDO:0009865"	"glycogen storage disease due to phosphoglycerate mutase deficiency"	"OMIM:261670"	"Glycogen storage disease X"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8889"	"PGAM2"	"OMIM:261670"	"GLYCOGEN STORAGE DISEASE X 261670"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:25"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:8889.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8896-OMIM_300653-HP_0001417-GENCC_100002"	"HGNC:8896"	"PGK1"	"MONDO:0010392"	"glycogen storage disease due to phosphoglycerate kinase 1 deficiency"	"OMIM:300653"	"Phosphoglycerate kinase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8896"	"PGK1"	"OMIM:300653"	"PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:25"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:8896.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8905-OMIM_614921-HP_0000007-GENCC_100002"	"HGNC:8905"	"PGM1"	"MONDO:0013968"	"PGM1-congenital disorder of glycosylation"	"OMIM:614921"	"Congenital disorder of glycosylation, type It"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8905"	"PGM1"	"OMIM:614921"	"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:25"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:8905.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8925-OMIM_300559-HP_0001417-GENCC_100002"	"HGNC:8925"	"PHKA1"	"MONDO:0010362"	"glycogen storage disease IXd"	"OMIM:300559"	"Muscle glycogenosis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8925"	"PHKA1"	"OMIM:300559"	"MUSCLE GLYCOGENOSIS 300559"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:26"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:8925.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8926-OMIM_306000-HP_0001417-GENCC_100002"	"HGNC:8926"	"PHKA2"	"MONDO:0010598"	"glycogen storage disease IXa1"	"OMIM:306000"	"Glycogen storage disease, type IXa1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8926"	"PHKA2"	"OMIM:306000"	"GLYCOGEN STORAGE DISEASE, TYPE IXA1 306000"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:26"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:8926.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_8927-OMIM_261750-HP_0000007-GENCC_100002"	"HGNC:8927"	"PHKB"	"MONDO:0009868"	"glycogen storage disease IXb"	"OMIM:261750"	"Phosphorylase kinase deficiency of liver and muscle, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8927"	"PHKB"	"OMIM:261750"	"GLYCOGEN STORAGE DISEASE IXB, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE 261750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:27"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:8927.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8931-OMIM_613027-HP_0000007-GENCC_100002"	"HGNC:8931"	"PHKG2"	"MONDO:0013091"	"glycogen storage disease IXc"	"OMIM:613027"	"Glycogen storage disease IXc"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8931"	"PHKG2"	"OMIM:613027"	"GLYCOGEN STORAGE DISEASE IXC 613027"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:27"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:8931.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9386-OMIM_261740-HP_0000006-GENCC_100002"	"HGNC:9386"	"PRKAG2"	"MONDO:0009867"	"lethal congenital glycogen storage disease of heart"	"OMIM:261740"	"Glycogen storage disease of heart, lethal congenital"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9386"	"PRKAG2"	"OMIM:261740"	"GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL 261740"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:28"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:9386.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9725-OMIM_232700-HP_0000007-GENCC_100002"	"HGNC:9725"	"PYGL"	"MONDO:0009294"	"glycogen storage disease VI"	"OMIM:232700"	"Glycogen storage disease VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9725"	"PYGL"	"OMIM:232700"	"GLYCOGEN STORAGE DISEASE VI 232700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:28"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:9725.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9726-OMIM_232600-HP_0000007-GENCC_100002"	"HGNC:9726"	"PYGM"	"MONDO:0009293"	"glycogen storage disease V"	"OMIM:232600"	"McArdle disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9726"	"PYGM"	"OMIM:232600"	"GLYCOGEN STORAGE DISEASE V 232600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:28"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:9726.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4061-OMIM_232240-HP_0000007-GENCC_100002"	"HGNC:4061"	"SLC37A4"	"MONDO:0009288"	"glycogen storage disease Ib"	"OMIM:232240"	"Glycogen storage disease Ic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4061"	"SLC37A4"	"OMIM:232240"	"GLYCOGEN STORAGE DISEASE IC 232240"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:29"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:4061.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4061-OMIM_232220-HP_0000007-GENCC_100002"	"HGNC:4061"	"SLC37A4"	"MONDO:0009288"	"glycogen storage disease Ib"	"OMIM:232220"	"Glycogen storage disease Ib"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4061"	"SLC37A4"	"OMIM:232220"	"GLYCOGEN STORAGE DISEASE IB 232220"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-06-23 13:04:29"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:4061.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_15864-OMIM_615895-HP_0000007-GENCC_100003"	"HGNC:15864"	"RBCK1"	"MONDO:0014389"	"polyglucosan body myopathy 1 with or without immunodeficiency"	"OMIM:615895"	"Polyglucosan body myopathy 1 with or without immunodeficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15864"	"RBCK1"	"OMIM:615895"	"POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY MIM#615895"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-06-23 13:04:30"	"https://panelapp.genomicsengland.co.uk/panels/528"	""	""	""	"000104.pa528.v1.4.hgnc:15864.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_24415-OMIM_614299-HP_0000007-GENCC_100002"	"HGNC:24415"	"BOLA3"	"MONDO:0013675"	"multiple mitochondrial dysfunctions syndrome 2"	"OMIM:614299"	"Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24415"	"BOLA3"	"OMIM:614299"	"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:30"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:24415.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2896-OMIM_245348-HP_0000007-GENCC_100002"	"HGNC:2896"	"DLAT"	"MONDO:0009502"	"pyruvate dehydrogenase E2 deficiency"	"OMIM:245348"	"Pyruvate dehydrogenase E2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2896"	"DLAT"	"OMIM:245348"	"PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:30"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:2896.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2898-OMIM_246900-HP_0000007-GENCC_100002"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"OMIM:246900"	"Dihydrolipoamide dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2898"	"DLD"	"OMIM:246900"	"DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:30"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:2898.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3151-OMIM_616277-HP_0000007-GENCC_100002"	"HGNC:3151"	"ECHS1"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"OMIM:616277"	"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3151"	"ECHS1"	"OMIM:616277"	"MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, 616277"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:30"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:3151.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13601-OMIM_615471-HP_0000007-GENCC_100002"	"HGNC:13601"	"FBXL4"	"MONDO:0014198"	"mitochondrial DNA depletion syndrome 13"	"OMIM:615471"	"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13601"	"FBXL4"	"OMIM:615471"	"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:30"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:13601.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20134-OMIM_616859-HP_0000007-GENCC_100002"	"HGNC:20134"	"GLRX5"	"MONDO:0014803"	"spasticity-ataxia-gait anomalies syndrome"	"OMIM:616859"	"Spasticity, childhood-onset, with hyperglycinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20134"	"GLRX5"	"OMIM:616859"	"SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:31"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:20134.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20134-OMIM_616860-HP_0000007-GENCC_100002"	"HGNC:20134"	"GLRX5"	"MONDO:0014804"	"sideroblastic anemia 3"	"OMIM:616860"	"Anemia, sideroblastic, 3, pyridoxine-refractory"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20134"	"GLRX5"	"OMIM:616860"	"ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:31"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:20134.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_4908-OMIM_250620-HP_0000007-GENCC_100002"	"HGNC:4908"	"HIBCH"	"MONDO:0009603"	"3-hydroxyisobutyryl-CoA hydrolase deficiency"	"OMIM:250620"	"3-hydroxyisobutryl-CoA hydrolase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4908"	"HIBCH"	"OMIM:250620"	"3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY, 250620"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:31"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:4908.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_27302-OMIM_615330-HP_0000007-GENCC_100002"	"HGNC:27302"	"IBA57"	"MONDO:0014132"	"multiple mitochondrial dysfunctions syndrome 3"	"OMIM:615330"	"Multiple mitochondrial dysfunctions syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:27302"	"IBA57"	"OMIM:615330"	"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:32"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:27302.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28660-OMIM_617613-HP_0000007-GENCC_100002"	"HGNC:28660"	"ISCA1"	"MONDO:0033282"	"multiple mitochondrial dysfunctions syndrome 5"	"OMIM:617613"	"Multiple mitochondrial dysfunctions syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28660"	"ISCA1"	"OMIM:617613"	"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:32"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:28660.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19857-OMIM_616370-HP_0000007-GENCC_100002"	"HGNC:19857"	"ISCA2"	"MONDO:0014611"	"multiple mitochondrial dysfunctions syndrome 4"	"OMIM:616370"	"Multiple mitochondrial dysfunctions syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19857"	"ISCA2"	"OMIM:616370"	"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:33"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:19857.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16429-OMIM_614462-HP_0000007-GENCC_100002"	"HGNC:16429"	"LIAS"	"MONDO:0013762"	"lipoic acid synthetase deficiency"	"OMIM:614462"	"Hyperglycinemia, lactic acidosis, and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16429"	"LIAS"	"OMIM:614462"	"HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:33"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:16429.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_29569-OMIM_616299-HP_0000007-GENCC_100002"	"HGNC:29569"	"LIPT1"	"MONDO:0014576"	"lipoyl transferase 1 deficiency"	"OMIM:616299"	"Lipoyltransferase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29569"	"LIPT1"	"OMIM:616299"	"LIPOYLTRANSFERASE 1 DEFICIENCY, 616299"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:34"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:29569.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_37216-OMIM_617668-HP_0000007-GENCC_100002"	"HGNC:37216"	"LIPT2"	"MONDO:0060562"	"encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"	"OMIM:617668"	"Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:37216"	"LIPT2"	"OMIM:617668"	"ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:34"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:37216.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9479-OMIM_600373-HP_0000007-GENCC_100002"	"HGNC:9479"	"LONP1"	"MONDO:0010879"	"CODAS syndrome"	"OMIM:600373"	"CODAS syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9479"	"LONP1"	"OMIM:600373"	"CODAS SYNDROME, 600373"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:35"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:9479.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16287-OMIM_605711-HP_0000007-GENCC_100002"	"HGNC:16287"	"NFU1"	"MONDO:0011582"	"multiple mitochondrial dysfunctions syndrome 1"	"OMIM:605711"	"Multiple mitochondrial dysfunctions syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16287"	"NFU1"	"OMIM:605711"	"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:35"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:16287.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8806-OMIM_312170-HP_0001417-GENCC_100002"	"HGNC:8806"	"PDHA1"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"OMIM:312170"	"Pyruvate dehydrogenase E1-alpha deficiency"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8806"	"PDHA1"	"OMIM:312170"	"PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:35"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:8806.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8808-OMIM_614111-HP_0000007-GENCC_100002"	"HGNC:8808"	"PDHB"	"MONDO:0013580"	"pyruvate dehydrogenase E1-beta deficiency"	"OMIM:614111"	"Pyruvate dehydrogenase E1-beta deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8808"	"PDHB"	"OMIM:614111"	"PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:35"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:8808.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21350-OMIM_245349-HP_0000007-GENCC_100002"	"HGNC:21350"	"PDHX"	"MONDO:0009503"	"pyruvate dehydrogenase E3-binding protein deficiency"	"OMIM:245349"	"Lacticacidemia due to PDX1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21350"	"PDHX"	"OMIM:245349"	"PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:35"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:21350.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9279-OMIM_608782-HP_0000007-GENCC_100002"	"HGNC:9279"	"PDP1"	"MONDO:0012120"	"pyruvate dehydrogenase phosphatase deficiency"	"OMIM:608782"	"Pyruvate dehydrogenase phosphatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9279"	"PDP1"	"OMIM:608782"	"PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:36"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:9279.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10938-OMIM_249270-HP_0000007-GENCC_100002"	"HGNC:10938"	"SLC19A2"	"MONDO:0009575"	"thiamine-responsive megaloblastic anemia syndrome"	"OMIM:249270"	"Thiamine-responsive megaloblastic anemia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10938"	"SLC19A2"	"OMIM:249270"	"THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:36"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:10938.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16266-OMIM_607483-HP_0000007-GENCC_100002"	"HGNC:16266"	"SLC19A3"	"MONDO:0011841"	"biotin-responsive basal ganglia disease"	"OMIM:607483"	"Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16266"	"SLC19A3"	"OMIM:607483"	"THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2 607483"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:27"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:16266.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14409-OMIM_607196-HP_0000007-GENCC_100002"	"HGNC:14409"	"SLC25A19"	"MONDO:0011790"	"Amish lethal microcephaly"	"OMIM:607196"	"Microcephaly, Amish type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14409"	"SLC25A19"	"OMIM:607196"	"MICROCEPHALY, AMISH TYPE, 607196"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:36"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:14409.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14409-OMIM_613710-HP_0000007-GENCC_100002"	"HGNC:14409"	"SLC25A19"	"MONDO:0013382"	"progressive demyelinating neuropathy with bilateral striatal necrosis"	"OMIM:613710"	"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14409"	"SLC25A19"	"OMIM:613710"	"THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE, 613710"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:37"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:14409.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_20661-OMIM_616794-HP_0000007-GENCC_100002"	"HGNC:20661"	"SLC25A26"	"MONDO:0014775"	"combined oxidative phosphorylation deficiency 28"	"OMIM:616794"	"Combined oxidative phosphorylation deficiency 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20661"	"SLC25A26"	"OMIM:616794"	"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:37"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:20661.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17358-OMIM_614458-HP_0000007-GENCC_100002"	"HGNC:17358"	"TPK1"	"MONDO:0013761"	"childhood encephalopathy due to thiamine pyrophosphokinase deficiency"	"OMIM:614458"	"Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17358"	"TPK1"	"OMIM:614458"	"THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE, 614458"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-17 13:04:38"	"https://panelapp.genomicsengland.co.uk/panels/531"	""	""	""	"000104.pa531.v1.3.hgnc:17358.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_48-OMIM_301310-HP_0001417-GENCC_100002"	"HGNC:48"	"ABCB7"	"MONDO:0010524"	"X-linked sideroblastic anemia with ataxia"	"OMIM:301310"	"Anemia, sideroblastic, with ataxia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:48"	"ABCB7"	"OMIM:301310"	" ANEMIA, SIDEROBLASTIC, WITH ATAXIA OMIM:301310"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:38"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:48.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_870-OMIM_277900-HP_0000007-GENCC_100002"	"HGNC:870"	"ATP7B"	"MONDO:0010200"	"Wilson disease"	"OMIM:277900"	"Wilson disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:870"	"ATP7B"	"OMIM:277900"	" WILSON DISEASE OMIM:277900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:38"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:870.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20797-MONDO_0006507-HP_0000007-GENCC_100002"	"HGNC:20797"	"CYBRD1"	"MONDO:0006507"	"hereditary hemochromatosis"	"MONDO:0006507"	"hereditary hemochromatosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20797"	"CYBRD1"	"MONDO:0006507"	"hereditary hemochromatosis MONDO:0006507"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:39"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:20797.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3999-OMIM_600886-HP_0000006-GENCC_100002"	"HGNC:3999"	"FTL"	"MONDO:0010952"	"hereditary hyperferritinemia with congenital cataracts"	"OMIM:600886"	"Hyperferritinemia-cataract syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3999"	"FTL"	"OMIM:600886"	"Hyperferritinemia-cataract syndrome OIMM:600886"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:39"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:3999.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3999-OMIM_615604-HP_0000006-GENCC_100002"	"HGNC:3999"	"FTL"	"MONDO:0014274"	"L-ferritin deficiency"	"OMIM:615604"	"L-ferritin deficiency, dominant and recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3999"	"FTL"	"OMIM:615604"	"L-ferritin deficiency, dominant and recessive OMIM:615604"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:39"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:3999.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3999-OMIM_606159-HP_0000006-GENCC_100002"	"HGNC:3999"	"FTL"	"MONDO:0011638"	"neuroferritinopathy"	"OMIM:606159"	"Neurodegeneration with brain iron accumulation 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3999"	"FTL"	"OMIM:606159"	"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 606159"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:15"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:3999.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15598-OMIM_613313-HP_0000007-GENCC_100002"	"HGNC:15598"	"HAMP"	"MONDO:0013220"	"hemochromatosis type 2B"	"OMIM:613313"	"Hemochromatosis, type 2B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15598"	"HAMP"	"OMIM:613313"	"613313 HEMOCHROMATOSIS, TYPE 2B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:40"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:15598.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4886-OMIM_235200-HP_0000007-GENCC_100002"	"HGNC:4886"	"HFE"	"MONDO:0021001"	"hemochromatosis type 1"	"OMIM:235200"	"{HFE hemochromatosis, modifier of}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4886"	"HFE"	"OMIM:235200"	"235200 HEMOCHROMATOSIS, TYPE 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:41"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:4886.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4887-OMIM_602390-HP_0000007-GENCC_100002"	"HGNC:4887"	"HJV"	"MONDO:0011216"	"hemochromatosis type 2A"	"OMIM:602390"	"Hemochromatosis, type 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4887"	"HJV"	"OMIM:602390"	"602390 HEMOCHROMATOSIS, TYPE 2A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:41"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:4887.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10908-OMIM_206100-HP_0000007-GENCC_100002"	"HGNC:10908"	"SLC11A2"	"MONDO:0008787"	"microcytic anemia with liver iron overload"	"OMIM:206100"	"Anemia, hypochromic microcytic, with iron overload 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10908"	"SLC11A2"	"OMIM:206100"	"206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:42"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:10908.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26054-OMIM_205950-HP_0000007-GENCC_100002"	"HGNC:26054"	"SLC25A38"	"MONDO:0008785"	"sideroblastic anemia 2"	"OMIM:205950"	"Anemia, sideroblastic, 2, pyridoxine-refractory"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26054"	"SLC25A38"	"OMIM:205950"	"205950 ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:42"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:26054.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10909-OMIM_606069-HP_0000006-GENCC_100002"	"HGNC:10909"	"SLC40A1"	"MONDO:0011631"	"hemochromatosis type 4"	"OMIM:606069"	"Hemochromatosis, type 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10909"	"SLC40A1"	"OMIM:606069"	"606069 HEMOCHROMATOSIS, TYPE 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:42"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:10909.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11740-OMIM_209300-HP_0000007-GENCC_100002"	"HGNC:11740"	"TF"	"MONDO:0008846"	"atransferrinemia"	"OMIM:209300"	"Atransferrinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11740"	"TF"	"OMIM:209300"	"209300 ATRANSFERRINEMIA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:43"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:11740.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11762-OMIM_604250-HP_0000007-GENCC_100002"	"HGNC:11762"	"TFR2"	"MONDO:0011417"	"hemochromatosis type 3"	"OMIM:604250"	"Hemochromatosis, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11762"	"TFR2"	"OMIM:604250"	"604250 HEMOCHROMATOSIS, TYPE 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:43"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:11762.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16517-OMIM_206200-HP_0000007-GENCC_100002"	"HGNC:16517"	"TMPRSS6"	"MONDO:0008788"	"IRIDA syndrome"	"OMIM:206200"	"Iron-refractory iron deficiency anemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16517"	"TMPRSS6"	"OMIM:206200"	"206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-03-02 13:04:43"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:16517.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3976-OMIM_615517-HP_0000006-GENCC_100003"	"HGNC:3976"	"FTH1"	"MONDO:0014225"	"hemochromatosis type 5"	"OMIM:615517"	"?Hemochromatosis, type 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3976"	"FTH1"	"OMIM:615517"	"615517 ?HEMOCHROMATOSIS, TYPE 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-03-02 13:04:43"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:3976.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4866-MONDO_0006507-HP_0001417-GENCC_100003"	"HGNC:4866"	"HEPH"	"MONDO:0006507"	"hereditary hemochromatosis"	"MONDO:0006507"	"hereditary hemochromatosis"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4866"	"HEPH"	"MONDO:0006507"	"hereditary hemochromatosis MONDO:0006507"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-03-02 13:04:43"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:4866.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_24592-OMIM_615234-HP_0000006-GENCC_100003"	"HGNC:24592"	"STEAP3"	"MONDO:0014094"	"severe congenital hypochromic anemia with ringed sideroblasts"	"OMIM:615234"	"?Anemia, hypochromic microcytic, with iron overload 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24592"	"STEAP3"	"OMIM:615234"	"615234 ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-03-02 13:04:44"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:24592.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1713-OMIM_224120-HP_0000007-GENCC_100004"	"HGNC:1713"	"CDAN1"	"MONDO:0019403"	"congenital dyserythropoietic anemia"	"OMIM:224120"	"Dyserythropoietic anemia, congenital, type Ia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1713"	"CDAN1"	"OMIM:224120"	"Dyserythropoietic anemia, congenital, type Ia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Strong"	"2022-06-09 00:00:00"	"https://panelapp.genomicsengland.co.uk/panels/518"	""	""	"https://panelapp.genomicsengland.co.uk/#!Guidelines"	"000104.pa518.v1.4.hgnc:1713.m1.p1"	"2022-06-09"
"GENCC_000104-HGNC_10702-OMIM_224100-HP_0000007-GENCC_100004"	"HGNC:10702"	"SEC23B"	"MONDO:0019403"	"congenital dyserythropoietic anemia"	"OMIM:224100"	"Dyserythropoietic anemia, congenital, type II"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10702"	"SEC23B"	"OMIM:224100"	"Dyserythropoietic anemia, congenital, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Strong"	"2022-06-09 00:00:00"	"https://panelapp.genomicsengland.co.uk/panels/518"	""	""	"https://panelapp.genomicsengland.co.uk/#!Guidelines"	"000104.pa518.v1.4.hgnc:10702.m1.p1"	"2022-06-09"
"GENCC_000104-HGNC_8941-MONDO_0013282-HP_0000007-GENCC_100004"	"HGNC:8941"	"SERPINA1"	"MONDO:0013282"	"alpha 1-antitrypsin deficiency"	"MONDO:0013282"	"alpha 1-antitrypsin deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8941"	"SERPINA1"	"MONDO:0013282"	"alpha 1-antitrypsin deficiency MONDO:0013282"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-03-02 13:04:45"	"https://panelapp.genomicsengland.co.uk/panels/515"	""	""	""	"000104.pa515.v1.5.hgnc:8941.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17288-OMIM_144650-HP_0000006-GENCC_100002"	"HGNC:17288"	"APOA5"	"MONDO:0007762"	"hyperlipoproteinemia type V"	"OMIM:144650"	"Hyperchylomicronemia, late-onset"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17288"	"APOA5"	"OMIM:144650"	"HYPERCHYLOMICRONEMIA, LATE-ONSET 144650"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:45"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:17288.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_603-OMIM_144010-HP_0000006-GENCC_100002"	"HGNC:603"	"APOB"	"MONDO:0007751"	"hypercholesterolemia, autosomal dominant, type B"	"OMIM:144010"	"Hypercholesterolemia, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:603"	"APOB"	"OMIM:144010"	"HYPERCHOLESTEROLEMIA, FAMILIAL, 2 144010"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:46"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:603.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_603-OMIM_615558-HP_0000007-GENCC_100002"	"HGNC:603"	"APOB"	"MONDO:0014252"	"familial hypobetalipoproteinemia 1"	"OMIM:615558"	"Hypobetalipoproteinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:603"	"APOB"	"OMIM:615558"	"HYPOBETALIPOPROTEINEMIA 615558"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:46"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:603.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_609-OMIM_207750-HP_0000007-GENCC_100002"	"HGNC:609"	"APOC2"	"MONDO:0008810"	"familial apolipoprotein C-II deficiency"	"OMIM:207750"	"Hyperlipoproteinemia, type Ib"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:609"	"APOC2"	"OMIM:207750"	"HYPERLIPOPROTEINEMIA, TYPE IB 207750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:47"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:609.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_613-OMIM_617347-HP_0000006-GENCC_100002"	"HGNC:613"	"APOE"	"MONDO:0018473"	"hyperlipoproteinemia type 3"	"OMIM:617347"	"Hyperlipoproteinemia, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:613"	"APOE"	"OMIM:617347"	"HYPERLIPOPROTEINEMIA, TYPE III 617347"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:47"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:613.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_613-OMIM_611771-HP_0000006-GENCC_100002"	"HGNC:613"	"APOE"	"MONDO:0012725"	"lipoprotein glomerulopathy"	"OMIM:611771"	"Lipoprotein glomerulopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:613"	"APOE"	"OMIM:611771"	"LIPOPROTEIN GLOMERULOPATHY 611771"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:48"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:613.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_613-OMIM_617347-HP_0000007-GENCC_100002"	"HGNC:613"	"APOE"	"MONDO:0018473"	"hyperlipoproteinemia type 3"	"OMIM:617347"	"Hyperlipoproteinemia, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:613"	"APOE"	"OMIM:617347"	"HYPERLIPOPROTEINEMIA, TYPE III 617347"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:48"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:613.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_18855-MONDO_0005347-HP_0000006-GENCC_100002"	"HGNC:18855"	"CREB3L3"	"MONDO:0005347"	"hypertriglyceridemia"	"MONDO:0005347"	"hypertriglyceridemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18855"	"CREB3L3"	"MONDO:0005347"	"hypertriglyceridemia (disease) MONDO:0005347"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:48"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:18855.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4455-OMIM_614480-HP_0000007-GENCC_100002"	"HGNC:4455"	"GPD1"	"MONDO:0013771"	"transient infantile hypertriglyceridemia and hepatosteatosis"	"OMIM:614480"	"Hypertriglyceridemia, transient infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4455"	"GPD1"	"OMIM:614480"	"HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 614480"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:49"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:4455.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_24945-OMIM_615947-HP_0000007-GENCC_100002"	"HGNC:24945"	"GPIHBP1"	"MONDO:0014412"	"hyperlipoproteinemia, type 1D"	"OMIM:615947"	"Hyperlipoproteinemia, type 1D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24945"	"GPIHBP1"	"OMIM:615947"	"HYPERLIPOPROTEINEMIA, TYPE 1D 615947"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:49"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:24945.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14154-OMIM_246650-HP_0000007-GENCC_100002"	"HGNC:14154"	"LMF1"	"MONDO:0009527"	"lipase deficiency, combined"	"OMIM:246650"	"Lipase deficiency, combined"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14154"	"LMF1"	"OMIM:246650"	"LIPASE DEFICIENCY, COMBINED 246650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:50"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:14154.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6677-OMIM_144250-HP_0000006-GENCC_100002"	"HGNC:6677"	"LPL"	"MONDO:0007759"	"hyperlipidemia, familial combined, LPL related"	"OMIM:144250"	"Combined hyperlipidemia, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6677"	"LPL"	"OMIM:144250"	"COMBINED HYPERLIPIDEMIA, FAMILIAL 144250"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:50"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:6677.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6677-OMIM_238600-HP_0000007-GENCC_100002"	"HGNC:6677"	"LPL"	"MONDO:0009387"	"familial lipoprotein lipase deficiency"	"OMIM:238600"	"[High density lipoprotein cholesterol level QTL 11]"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6677"	"LPL"	"OMIM:238600"	"LIPOPROTEIN LIPASE DEFICIENCY 238600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:51"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:6677.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_18821-MONDO_0005347-HP_0000006-GENCC_100004 "	"HGNC:18821"	"LIPI"	"MONDO:0005347"	"hypertriglyceridemia"	"MONDO:0005347"	"hypertriglyceridemia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18821"	"LIPI"	"MONDO:0005347"	"hypertriglyceridemia (disease) MONDO:0005347"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004 "	"Limited"	"2020-10-15 13:04:51"	"https://panelapp.genomicsengland.co.uk/panels/527"	""	""	""	"000104.pa527.v1.4.hgnc:18821.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_393-OMIM_615937-HP_0000006-GENCC_100002"	"HGNC:393"	"AKT3"	"MONDO:0014407"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"OMIM:615937"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:393"	"AKT3"	"OMIM:615937"	"MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, 615937"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:04:51"	"https://panelapp.genomicsengland.co.uk/panels/736"	""	""	""	"000104.pa736.v1.8.hgnc:393.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1583-OMIM_615938-HP_0000006-GENCC_100002"	"HGNC:1583"	"CCND2"	"MONDO:0014408"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	"OMIM:615938"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1583"	"CCND2"	"OMIM:615938"	"MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 615938"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:51"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:1583.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8980-OMIM_603387-HP_0000006-GENCC_100002"	"HGNC:8980"	"PIK3R2"	"MONDO:0011313"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	"OMIM:603387"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8980"	"PIK3R2"	"OMIM:603387"	"MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:04:51"	"https://panelapp.genomicsengland.co.uk/panels/736"	""	""	""	"000104.pa736.v1.8.hgnc:8980.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9588-OMIM_158350-HP_0000006-GENCC_100002"	"HGNC:9588"	"PTEN"	"MONDO:0008021"	"Cowden syndrome 1"	"OMIM:158350"	"Lhermitte-Duclos disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9588"	"PTEN"	"OMIM:158350"	"Cowden syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:04:51"	"https://panelapp.genomicsengland.co.uk/panels/736"	""	""	""	"000104.pa736.v1.8.hgnc:9588.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9588-OMIM_605309-HP_0000006-GENCC_100002"	"HGNC:9588"	"PTEN"	"MONDO:0011537"	"macrocephaly-autism syndrome"	"OMIM:605309"	"Macrocephaly/autism syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9588"	"PTEN"	"OMIM:605309"	"Macrocephaly/autism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:04:51"	"https://panelapp.genomicsengland.co.uk/panels/736"	""	""	""	"000104.pa736.v1.8.hgnc:9588.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_30213-OMIM_606693-HP_0000007-GENCC_100002"	"HGNC:30213"	"ATP13A2"	"MONDO:0011706"	"Kufor-Rakeb syndrome"	"OMIM:606693"	"Kufor-Rakeb syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30213"	"ATP13A2"	"OMIM:606693"	"PARKINSON DISEASE 9, 606693"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:11"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:30213.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2074-OMIM_204200-HP_0000007-GENCC_100002"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"OMIM:204200"	"Ceroid lipofuscinosis, neuronal, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2074"	"CLN3"	"OMIM:204200"	"Ceroid lipofuscinosis, neuronal, 3 OMIM:204200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:52"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2074.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2076-OMIM_256731-HP_0000007-GENCC_100002"	"HGNC:2076"	"CLN5"	"MONDO:0009745"	"neuronal ceroid lipofuscinosis 5"	"OMIM:256731"	"Ceroid lipofuscinosis, neuronal, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2076"	"CLN5"	"OMIM:256731"	"Ceroid lipofuscinosis, neuronal, 5 OMIM:256731"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:52"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2076.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2077-OMIM_601780-HP_0000007-GENCC_100002"	"HGNC:2077"	"CLN6"	"MONDO:0011144"	"ceroid lipofuscinosis, neuronal, 6A"	"OMIM:601780"	"Ceroid lipofuscinosis, neuronal, 6A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2077"	"CLN6"	"OMIM:601780"	"Ceroid lipofuscinosis, neuronal, 6 OMIM:601780"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:52"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2077.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2077-OMIM_204300-HP_0000007-GENCC_100002"	"HGNC:2077"	"CLN6"	"MONDO:0008768"	"ceroid lipofuscinosis, neuronal, 6B (Kufs type)"	"OMIM:204300"	"Ceroid lipofuscinosis, neuronal, 6B (Kufs type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2077"	"CLN6"	"OMIM:204300"	"Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:52"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2077.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2079-OMIM_600143-HP_0000007-GENCC_100002"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"OMIM:600143"	"Ceroid lipofuscinosis, neuronal, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2079"	"CLN8"	"OMIM:600143"	"Ceroid lipofuscinosis, neuronal, 8 OMIM:600143"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:52"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2079.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_2079-OMIM_610003-HP_0000007-GENCC_100002"	"HGNC:2079"	"CLN8"	"MONDO:0012391"	"neuronal ceroid lipofuscinosis 8 northern epilepsy variant"	"OMIM:610003"	"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2079"	"CLN8"	"OMIM:610003"	"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:52"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2079.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_2529-OMIM_610127-HP_0000007-GENCC_100002"	"HGNC:2529"	"CTSD"	"MONDO:0012414"	"neuronal ceroid lipofuscinosis 10"	"OMIM:610127"	"Ceroid lipofuscinosis, neuronal, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2529"	"CTSD"	"OMIM:610127"	"Ceroid lipofuscinosis, neuronal, 10 OMIM:610127"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:52"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2529.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2531-OMIM_615362-HP_0000007-GENCC_100002"	"HGNC:2531"	"CTSF"	"MONDO:0014147"	"neuronal ceroid lipofuscinosis 13"	"OMIM:615362"	"Ceroid lipofuscinosis, neuronal, 13 (Kufs type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2531"	"CTSF"	"OMIM:615362"	"Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:53"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2531.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16235-OMIM_162350-HP_0000006-GENCC_100002"	"HGNC:16235"	"DNAJC5"	"MONDO:0008083"	"ceroid lipofuscinosis, neuronal, 4 (Kufs type)"	"OMIM:162350"	"Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16235"	"DNAJC5"	"OMIM:162350"	"Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:53"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:16235.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21957-OMIM_611726-HP_0000007-GENCC_100002"	"HGNC:21957"	"KCTD7"	"MONDO:0012721"	"progressive myoclonic epilepsy type 3"	"OMIM:611726"	"Epilepsy, progressive myoclonic 3, with or without intracellular inclusions"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21957"	"KCTD7"	"OMIM:611726"	"Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:54"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:21957.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28486-OMIM_610951-HP_0000007-GENCC_100002"	"HGNC:28486"	"MFSD8"	"MONDO:0012588"	"neuronal ceroid lipofuscinosis 7"	"OMIM:610951"	"Ceroid lipofuscinosis, neuronal, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28486"	"MFSD8"	"OMIM:610951"	"Ceroid lipofuscinosis, neuronal, 7 OMIM:610951"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:54"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:28486.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9325-OMIM_256730-HP_0000007-GENCC_100002"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"OMIM:256730"	"Ceroid lipofuscinosis, neuronal, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9325"	"PPT1"	"OMIM:256730"	"Ceroid lipofuscinosis, neuronal, 1 OMIM:256730"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:54"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:9325.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2073-OMIM_204500-HP_0000007-GENCC_100002"	"HGNC:2073"	"TPP1"	"MONDO:0008769"	"neuronal ceroid lipofuscinosis 2"	"OMIM:204500"	"Ceroid lipofuscinosis, neuronal, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2073"	"TPP1"	"OMIM:204500"	"Ceroid lipofuscinosis, neuronal, 2 OMIM:204500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:04:54"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:2073.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4601-OMIM_614706-HP_0000007-GENCC_100003"	"HGNC:4601"	"GRN"	"MONDO:0013866"	"neuronal ceroid lipofuscinosis 11"	"OMIM:614706"	"Ceroid lipofuscinosis, neuronal, 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4601"	"GRN"	"OMIM:614706"	"Ceroid lipofuscinosis, neuronal, 11 OMIM:614706"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:04:54"	"https://panelapp.genomicsengland.co.uk/panels/526"	""	""	""	"000104.pa526.v1.4.hgnc:4601.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_61-MONDO_0019064-HP_0001417-GENCC_100002"	"HGNC:61"	"ABCD1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:61"	"ABCD1"	"MONDO:0019064"	"HEREDITARY SPASTIC PARAPLEGIA"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:55"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:61.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_443-OMIM_606353-HP_0000007-GENCC_100002"	"HGNC:443"	"ALS2"	"MONDO:0011663"	"juvenile primary lateral sclerosis"	"OMIM:606353"	"Primary lateral sclerosis, juvenile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:443"	"ALS2"	"OMIM:606353"	"PRIMARY LATERAL SCLEROSIS, JUVENILE, 606353"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:56"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:443.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_443-OMIM_607225-HP_0000007-GENCC_100002"	"HGNC:443"	"ALS2"	"MONDO:0011797"	"infantile-onset ascending hereditary spastic paralysis"	"OMIM:607225"	"Spastic paralysis, infantile onset ascending"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:443"	"ALS2"	"OMIM:607225"	"SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, 607225"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:56"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:443.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_443-OMIM_205100-HP_0000007-GENCC_100002"	"HGNC:443"	"ALS2"	"MONDO:0008780"	"amyotrophic lateral sclerosis type 2, juvenile"	"OMIM:205100"	"Amyotrophic lateral sclerosis 2, juvenile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:443"	"ALS2"	"OMIM:205100"	"AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, 205100"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:57"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:443.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_483-OMIM_611895-HP_0000006-GENCC_100002"	"HGNC:483"	"ANG"	"MONDO:0012753"	"amyotrophic lateral sclerosis type 9"	"OMIM:611895"	"Amyotrophic lateral sclerosis 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:483"	"ANG"	"OMIM:611895"	"AMYOTROPHIC LATERAL SCLEROSIS 9, 611895"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:57"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:483.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_535-OMIM_617839-HP_0000006-GENCC_100002"	"HGNC:535"	"ANXA11"	"MONDO:0027694"	"amyotrophic lateral sclerosis type 23"	"OMIM:617839"	"Amyotrophic lateral sclerosis 23"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:535"	"ANXA11"	"OMIM:617839"	"AMYTROPHIC LATERAL SCLEROSIS 23"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:58"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:535.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_620-OMIM_104300-HP_0000006-GENCC_100002"	"HGNC:620"	"APP"	"MONDO:0007088"	"Alzheimer disease type 1"	"OMIM:104300"	"Alzheimer disease 1, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:620"	"APP"	"OMIM:104300"	"ALZHEIMER DISEASE 1, FAMILIAL OMIM:104300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:58"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:620.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_620-OMIM_605714-HP_0000006-GENCC_100002"	"HGNC:620"	"APP"	"MONDO:0011583"	"cerebral amyloid angiopathy, APP-related"	"OMIM:605714"	"Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:620"	"APP"	"OMIM:605714"	"CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS OMIM:605714"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:58"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:620.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_713-OMIM_250100-HP_0000007-GENCC_100002"	"HGNC:713"	"ARSA"	"MONDO:0009591"	"metachromatic leukodystrophy, juvenile form"	"OMIM:250100"	"Metachromatic leukodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:713"	"ARSA"	"OMIM:250100"	"METACHROMATIC LEUKODYSTROPHY (#250100"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:58"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:713.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30213-OMIM_617225-HP_0000007-GENCC_100002"	"HGNC:30213"	"ATP13A2"	"MONDO:0014975"	"autosomal recessive spastic paraplegia type 78"	"OMIM:617225"	"Spastic paraplegia 78, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30213"	"ATP13A2"	"OMIM:617225"	"SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:58"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:30213.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_801-OMIM_614820-HP_0000006-GENCC_100002"	"HGNC:801"	"ATP1A3"	"MONDO:0013900"	"alternating hemiplegia of childhood 2"	"OMIM:614820"	"Alternating hemiplegia of childhood 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:801"	"ATP1A3"	"OMIM:614820"	"ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:59"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:801.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_801-OMIM_601338-HP_0000006-GENCC_100002"	"HGNC:801"	"ATP1A3"	"MONDO:0011038"	"cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"	"OMIM:601338"	"CAPOS syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:801"	"ATP1A3"	"OMIM:601338"	"CAPOS SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:04:59"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:801.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_801-OMIM_128235-HP_0000006-GENCC_100002"	"HGNC:801"	"ATP1A3"	"MONDO:0007496"	"dystonia 12"	"OMIM:128235"	"Dystonia-12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:801"	"ATP1A3"	"OMIM:128235"	"DYSTONIA 12, 128235"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:00"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:801.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_1394-OMIM_616795-HP_0000006-GENCC_100002"	"HGNC:1394"	"CACNA1G"	"MONDO:0014776"	"spinocerebellar ataxia type 42"	"OMIM:616795"	"Spinocerebellar ataxia 42"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1394"	"CACNA1G"	"OMIM:616795"	"SPINOCEREBELLAR ATAXIA 42, 61679"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:00"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:1394.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15559-OMIM_616209-HP_0000006-GENCC_100002"	"HGNC:15559"	"CHCHD10"	"MONDO:0014532"	"autosomal dominant mitochondrial myopathy with exercise intolerance"	"OMIM:616209"	"?Myopathy, isolated mitochondrial, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15559"	"CHCHD10"	"OMIM:616209"	"?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, 616209"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:01"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:15559.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21645-OMIM_616710-HP_0000006-GENCC_100002"	"HGNC:21645"	"CHCHD2"	"MONDO:0014742"	"Parkinson disease 22, autosomal dominant"	"OMIM:616710"	"Parkinson disease 22, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21645"	"CHCHD2"	"OMIM:616710"	"PARKINSON DISEASE 22, AUTOSOMAL DOMINANT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:02"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:21645.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2020-OMIM_607628-HP_0000006-GENCC_100002"	"HGNC:2020"	"CLCN2"	"MONDO:0011875"	"epilepsy, idiopathic generalized, susceptibility to, 11"	"OMIM:607628"	"{Epilepsy, idiopathic generalized, susceptibility to, 11}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2020"	"CLCN2"	"OMIM:607628"	"{EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8}, 607628"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:02"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2020.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_2020-OMIM_615651-HP_0000007-GENCC_100002"	"HGNC:2020"	"CLCN2"	"MONDO:0014292"	"leukoencephalopathy with mild cerebellar ataxia and white matter edema"	"OMIM:615651"	"Leukoencephalopathy with ataxia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2020"	"CLCN2"	"OMIM:615651"	"LEUKOENCEPHALOPATHY WITH ATAXIA, 615651"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:03"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2020.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_29932-OMIM_615643-HP_0000007-GENCC_100002"	"HGNC:29932"	"COASY"	"MONDO:0014290"	"neurodegeneration with brain iron accumulation 6"	"OMIM:615643"	"Neurodegeneration with brain iron accumulation 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29932"	"COASY"	"OMIM:615643"	"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:03"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:29932.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2295-OMIM_604290-HP_0000007-GENCC_100002"	"HGNC:2295"	"CP"	"MONDO:0011426"	"aceruloplasminemia"	"OMIM:604290"	"Aceruloplasminemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2295"	"CP"	"OMIM:604290"	"HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, 604290"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:04"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2295.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2433-OMIM_221820-HP_0000006-GENCC_100002"	"HGNC:2433"	"CSF1R"	"MONDO:0009096"	"hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"	"OMIM:221820"	"Leukoencephalopathy, diffuse hereditary, with spheroids 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2433"	"CSF1R"	"OMIM:221820"	"Leukoencephalopathy, diffuse hereditary, with spheroids"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:04"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2433.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2605-OMIM_213700-HP_0000007-GENCC_100002"	"HGNC:2605"	"CYP27A1"	"MONDO:0008948"	"cerebrotendinous xanthomatosis"	"OMIM:213700"	"Cerebrotendinous xanthomatosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2605"	"CYP27A1"	"OMIM:213700"	"CEREBROTENDINOUS XANTHOMATOSIS, 213700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:04"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2605.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2652-OMIM_270800-HP_0000007-GENCC_100002"	"HGNC:2652"	"CYP7B1"	"MONDO:0010047"	"hereditary spastic paraplegia 5A"	"OMIM:270800"	"Spastic paraplegia 5A, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2652"	"CYP7B1"	"OMIM:270800"	"SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:05"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2652.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25538-OMIM_611105-HP_0000007-GENCC_100002"	"HGNC:25538"	"DARS2"	"MONDO:0012622"	"leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"	"OMIM:611105"	"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25538"	"DARS2"	"OMIM:611105"	"LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, 611105"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:05"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:25538.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2711-OMIM_607641-HP_0000006-GENCC_100002"	"HGNC:2711"	"DCTN1"	"MONDO:0011879"	"neuronopathy, distal hereditary motor, type 7B"	"OMIM:607641"	"Neuronopathy, distal hereditary motor, autosomal dominant 14"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2711"	"DCTN1"	"OMIM:607641"	"NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, 607641"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:06"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2711.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2711-OMIM_168605-HP_0000006-GENCC_100002"	"HGNC:2711"	"DCTN1"	"MONDO:0008201"	"Perry syndrome"	"OMIM:168605"	"Perry syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2711"	"DCTN1"	"OMIM:168605"	"PERRY SYNDROME, 168605"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:06"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2711.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2711-OMIM_105400-HP_0000006-GENCC_100002"	"HGNC:2711"	"DCTN1"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"OMIM:105400"	"{?Amyotrophic lateral sclerosis, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2711"	"DCTN1"	"OMIM:105400"	"{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, 105400"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:06"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2711.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_15469-OMIM_615528-HP_0000007-GENCC_100002"	"HGNC:15469"	"DNAJC6"	"MONDO:0014231"	"juvenile onset Parkinson disease 19A"	"OMIM:615528"	"Parkinson disease 19b, early-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15469"	"DNAJC6"	"OMIM:615528"	"PARKINSON DISEASE 19A JUVENILE-ONSET, 615528"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:07"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:15469.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2976-OMIM_604121-HP_0000006-GENCC_100002"	"HGNC:2976"	"DNMT1"	"MONDO:0011397"	"autosomal dominant cerebellar ataxia, deafness and narcolepsy"	"OMIM:604121"	"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2976"	"DNMT1"	"OMIM:604121"	"CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT,"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:07"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2976.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3257-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3257"	"EIF2B1"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3257"	"EIF2B1"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter "	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:07"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3257.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3258-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3258"	"EIF2B2"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3258"	"EIF2B2"	"OMIM:603896"	"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, 603896"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:07"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3258.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3259-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3259"	"EIF2B3"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3259"	"EIF2B3"	"OMIM:603896"	"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, 603896"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:07"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3259.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3260-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3260"	"EIF2B4"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3260"	"EIF2B4"	"OMIM:603896"	"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, 603896"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:07"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3260.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3261-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3261"	"EIF2B5"	"MONDO:0011380"	"leukoencephalopathy with vanishing white matter"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3261"	"EIF2B5"	"OMIM:603896"	"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, 603896"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:07"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3261.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14415-OMIM_133190-HP_0000006-GENCC_100002"	"HGNC:14415"	"ELOVL4"	"MONDO:0007574"	"spinocerebellar ataxia type 34"	"OMIM:133190"	"Spinocerebellar ataxia 34"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14415"	"ELOVL4"	"OMIM:133190"	"SPINOCEREBELLAR ATAXIA 34 133190"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:08"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:14415.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3413-OMIM_254780-HP_0000007-GENCC_100002"	"HGNC:3413"	"EPM2A"	"MONDO:0009697"	"Lafora disease"	"OMIM:254780"	"Myoclonic epilepsy of Lafora 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3413"	"EPM2A"	"OMIM:254780"	"EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA 254780"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:08"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3413.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16873-OMIM_612577-HP_0000006-GENCC_100002"	"HGNC:16873"	"FIG4"	"MONDO:0012945"	"amyotrophic lateral sclerosis type 11"	"OMIM:612577"	"Amyotrophic lateral sclerosis 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16873"	"FIG4"	"OMIM:612577"	"AMYOTROPHIC LATERAL SCLEROSIS, DOMINANT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:08"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:16873.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4010-OMIM_608030-HP_0000006-GENCC_100002"	"HGNC:4010"	"FUS"	"MONDO:0011951"	"amyotrophic lateral sclerosis type 6"	"OMIM:608030"	"Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4010"	"FUS"	"OMIM:608030"	"AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE, WITH OR WITHOUT FRONTOTEMPORAL"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:09"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:4010.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4235-OMIM_203450-HP_0000006-GENCC_100002"	"HGNC:4235"	"GFAP"	"MONDO:0008752"	"Alexander disease"	"OMIM:203450"	"Alexander disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4235"	"GFAP"	"OMIM:203450"	"ALEXANDER DISEASE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:09"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:4235.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4601-OMIM_607485-HP_0000006-GENCC_100002"	"HGNC:4601"	"GRN"	"MONDO:0011842"	"GRN-related frontotemporal lobar degeneration with Tdp43 inclusions"	"OMIM:607485"	"Aphasia, primary progressive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4601"	"GRN"	"OMIM:607485"	"Aphasia, primary progressive "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:09"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:4601.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_5031-OMIM_615424-HP_0000006-GENCC_100002"	"HGNC:5031"	"HNRNPA1"	"MONDO:0014179"	"inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3"	"OMIM:615424"	"?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5031"	"HNRNPA1"	"OMIM:615424"	"?INCLUSION BODY MYOPATHY WTIH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:10"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:5031.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5031-OMIM_615426-HP_0000006-GENCC_100002"	"HGNC:5031"	"HNRNPA1"	"MONDO:0014181"	"amyotrophic lateral sclerosis type 20"	"OMIM:615426"	"Amyotrophic lateral sclerosis 20"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5031"	"HNRNPA1"	"OMIM:615426"	"Amyotrophic lateral sclerosis 20"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:10"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:5031.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9476-OMIM_616779-HP_0000006-GENCC_100002"	"HGNC:9476"	"HTRA1"	"MONDO:0014768"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"	"OMIM:616779"	"Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9476"	"HTRA1"	"OMIM:616779"	"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 616779"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:11"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9476.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9476-OMIM_600142-HP_0000007-GENCC_100002"	"HGNC:9476"	"HTRA1"	"MONDO:0010829"	"CARASIL syndrome"	"OMIM:600142"	"CARASIL syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9476"	"HTRA1"	"OMIM:600142"	"CARASIL SYNDROME 600142"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:11"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9476.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_6174-OMIM_176500-HP_0000006-GENCC_100002"	"HGNC:6174"	"ITM2B"	"MONDO:0008306"	"ABri amyloidosis"	"OMIM:176500"	"Dementia, familial British"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6174"	"ITM2B"	"OMIM:176500"	"DEMENTIA, FAMILIAL BRITISH, 176500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:12"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:6174.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6235-OMIM_605259-HP_0000006-GENCC_100002"	"HGNC:6235"	"KCNC3"	"MONDO:0011529"	"spinocerebellar ataxia type 13"	"OMIM:605259"	"Spinocerebellar ataxia 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6235"	"KCNC3"	"OMIM:605259"	"SPINOCEREBELLAR ATAXIA 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:12"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:6235.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6239-OMIM_607346-HP_0000006-GENCC_100002"	"HGNC:6239"	"KCND3"	"MONDO:0011819"	"spinocerebellar ataxia type 19/22"	"OMIM:607346"	"Spinocerebellar ataxia 19"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6239"	"KCND3"	"OMIM:607346"	"SPINOCEREBELLARATAXIA19,607346"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:12"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:6239.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19918-OMIM_618317-HP_0000007-GENCC_100002"	"HGNC:19918"	"MYORG"	"MONDO:0032673"	"basal ganglia calcification, idiopathic, 7, autosomal recessive"	"OMIM:618317"	"Basal ganglia calcification, idiopathic, 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19918"	"MYORG"	"OMIM:618317"	"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:17"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:19918.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6323-OMIM_604187-HP_0000006-GENCC_100002"	"HGNC:6323"	"KIF5A"	"MONDO:0011408"	"hereditary spastic paraplegia 10"	"OMIM:604187"	"Spastic paraplegia 10, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6323"	"KIF5A"	"OMIM:604187"	"SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:13"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:6323.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1968-OMIM_214500-HP_0000007-GENCC_100002"	"HGNC:1968"	"LYST"	"MONDO:0008963"	"Chediak-Higashi syndrome"	"OMIM:214500"	"Chediak-Higashi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1968"	"LYST"	"OMIM:214500"	"CHEDIAK-HIGASHI SYNDROME 214500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:13"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:1968.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21576-OMIM_254780-HP_0000007-GENCC_100002"	"HGNC:21576"	"NHLRC1"	"MONDO:0009697"	"Lafora disease"	"OMIM:254780"	"Myoclonic epilepsy of Lafora 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21576"	"NHLRC1"	"OMIM:254780"	"EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA 254780"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:13"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:21576.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7883-OMIM_125310-HP_0000006-GENCC_100002"	"HGNC:7883"	"NOTCH3"	"MONDO:0000914"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"	"OMIM:125310"	"Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7883"	"NOTCH3"	"OMIM:125310"	"Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:14"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:7883.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17142-OMIM_613435-HP_0000007-GENCC_100002"	"HGNC:17142"	"OPTN"	"MONDO:0013264"	"amyotrophic lateral sclerosis type 12"	"OMIM:613435"	"Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17142"	"OPTN"	"OMIM:613435"	"Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:14"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:17142.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15894-OMIM_234200-HP_0000007-GENCC_100002"	"HGNC:15894"	"PANK2"	"MONDO:0009319"	"pantothenate kinase-associated neurodegeneration"	"OMIM:234200"	"Neurodegeneration with brain iron accumulation 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15894"	"PANK2"	"OMIM:234200"	"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:15"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:15894.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16369-OMIM_606324-HP_0000007-GENCC_100002"	"HGNC:16369"	"PARK7"	"MONDO:0011658"	"autosomal recessive early-onset Parkinson disease 7"	"OMIM:606324"	"Parkinson disease 7, autosomal recessive early-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16369"	"PARK7"	"OMIM:606324"	"PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:15"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:16369.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8881-OMIM_614808-HP_0000006-GENCC_100002"	"HGNC:8881"	"PFN1"	"MONDO:0013891"	"amyotrophic lateral sclerosis type 18"	"OMIM:614808"	"Amyotrophic lateral sclerosis 18"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8881"	"PFN1"	"OMIM:614808"	"AMYOTROPHIC LATERAL SCLEROSIS 18, 614808"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:16"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:8881.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9039-OMIM_256600-HP_0000007-GENCC_100002"	"HGNC:9039"	"PLA2G6"	"MONDO:0024457"	"neurodegeneration with brain iron accumulation 2A"	"OMIM:256600"	"Infantile neuroaxonal dystrophy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9039"	"PLA2G6"	"OMIM:256600"	"INFANTILE NEUROAXONAL DYSTROPHY 1, 256600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:16"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9039.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9039-OMIM_610217-HP_0000007-GENCC_100002"	"HGNC:9039"	"PLA2G6"	"MONDO:0012444"	"neurodegeneration with brain iron accumulation 2B"	"OMIM:610217"	"Neurodegeneration with brain iron accumulation 2B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9039"	"PLA2G6"	"OMIM:610217"	"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, 610217"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:16"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9039.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9039-OMIM_612953-HP_0000007-GENCC_100002"	"HGNC:9039"	"PLA2G6"	"MONDO:0013060"	"autosomal recessive Parkinson disease 14"	"OMIM:612953"	"Parkinson disease 14, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9039"	"PLA2G6"	"OMIM:612953"	"PARKINSON DISEASE 14 (#612953"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:17"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9039.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_9508-OMIM_607822-HP_0000006-GENCC_100002"	"HGNC:9508"	"PSEN1"	"MONDO:0011913"	"Alzheimer disease 3"	"OMIM:607822"	"{?Alzheimer disease, protection against, due to APOE3-Christchurch}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9508"	"PSEN1"	"OMIM:607822"	"ALZHEIMER DISEASE, TYPE 3, 607822"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:18"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9508.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_9508-OMIM_600274-HP_0000006-GENCC_100002"	"HGNC:9508"	"PSEN1"	"MONDO:0010857"	"semantic dementia"	"OMIM:600274"	"Frontotemporal dementia 1, with or without parkinsonism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9508"	"PSEN1"	"OMIM:600274"	"DEMENTIA, FRONTOTEMPORAL, 600274"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:18"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9508.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_9508-OMIM_172700-HP_0000006-GENCC_100002"	"HGNC:9508"	"PSEN1"	"MONDO:0008243"	"Pick disease"	"OMIM:172700"	"Pick disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9508"	"PSEN1"	"OMIM:172700"	"PICK DISEASE, 172700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:18"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9508.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_9509-OMIM_606889-HP_0000006-GENCC_100002"	"HGNC:9509"	"PSEN2"	"MONDO:0011743"	"Alzheimer disease 4"	"OMIM:606889"	"Alzheimer disease-4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9509"	"PSEN2"	"OMIM:606889"	"Alzheimer disease-4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:19"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:9509.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11179-OMIM_105400-HP_0000006-GENCC_100002"	"HGNC:11179"	"SOD1"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"OMIM:105400"	"{?Amyotrophic lateral sclerosis, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11179"	"SOD1"	"OMIM:105400"	"AMYOTROPHIC LATERAL SCLEROSIS 1, 105400"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:19"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11179.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11233-OMIM_182601-HP_0000006-GENCC_100002"	"HGNC:11233"	"SPAST"	"MONDO:0008438"	"hereditary spastic paraplegia 4"	"OMIM:182601"	"Spastic paraplegia 4, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11233"	"SPAST"	"OMIM:182601"	"SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:19"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11233.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11280-OMIM_616437-HP_0000006-GENCC_100002"	"HGNC:11280"	"SQSTM1"	"MONDO:0014640"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"OMIM:616437"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11280"	"SQSTM1"	"OMIM:616437"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:20"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11280.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11503-OMIM_615530-HP_0000007-GENCC_100002"	"HGNC:11503"	"SYNJ1"	"MONDO:0014233"	"early-onset Parkinson disease 20"	"OMIM:615530"	"Parkinson disease 20, early-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11503"	"SYNJ1"	"OMIM:615530"	"PARKINSON DISEASE 20, EARLY-ONSET, 615530"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:20"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11503.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11571-OMIM_612069-HP_0000006-GENCC_100002"	"HGNC:11571"	"TARDBP"	"MONDO:0012790"	"amyotrophic lateral sclerosis type 10"	"OMIM:612069"	"Amyotrophic lateral sclerosis 10, with or without FTD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11571"	"TARDBP"	"OMIM:612069"	"AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, 612069"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:21"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11571.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11584-OMIM_616439-HP_0000006-GENCC_100002"	"HGNC:11584"	"TBK1"	"MONDO:0014641"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"OMIM:616439"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11584"	"TBK1"	"OMIM:616439"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:21"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11584.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25186-OMIM_607454-HP_0000006-GENCC_100002"	"HGNC:25186"	"TMEM240"	"MONDO:0011833"	"spinocerebellar ataxia type 21"	"OMIM:607454"	"Spinocerebellar ataxia 21"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25186"	"TMEM240"	"OMIM:607454"	"SPINOCEREBELLAR ATAXIA 21, 607454"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:22"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:25186.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17761-OMIM_618193-HP_0000007-GENCC_100002"	"HGNC:17761"	"TREM2"	"MONDO:0020750"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"OMIM:618193"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17761"	"TREM2"	"OMIM:618193"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:22"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:17761.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26006-OMIM_615157-HP_0000007-GENCC_100002"	"HGNC:26006"	"TTC19"	"MONDO:0014063"	"mitochondrial complex III deficiency nuclear type 2"	"OMIM:615157"	"Mitochondrial complex III deficiency, nuclear type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26006"	"TTC19"	"OMIM:615157"	"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, 615157"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:23"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:26006.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12449-OMIM_221770-HP_0000007-GENCC_100002"	"HGNC:12449"	"TYROBP"	"MONDO:0020749"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"OMIM:221770"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12449"	"TYROBP"	"OMIM:221770"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:23"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:12449.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12509-OMIM_300857-HP_0001417-GENCC_100002"	"HGNC:12509"	"UBQLN2"	"MONDO:0010459"	"amyotrophic lateral sclerosis type 15"	"OMIM:300857"	"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12509"	"UBQLN2"	"OMIM:300857"	"AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, 300857"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:24"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:12509.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12649-OMIM_608627-HP_0000006-GENCC_100002"	"HGNC:12649"	"VAPB"	"MONDO:0012077"	"amyotrophic lateral sclerosis type 8"	"OMIM:608627"	"Amyotrophic lateral sclerosis 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12649"	"VAPB"	"OMIM:608627"	"AMYOTROPHIC LATERAL SCLEROSIS 8, 608627"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:24"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:12649.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12666-OMIM_613954-HP_0000006-GENCC_100002"	"HGNC:12666"	"VCP"	"MONDO:0013501"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 6"	"OMIM:613954"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12666"	"VCP"	"OMIM:613954"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:25"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:12666.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13487-OMIM_614203-HP_0000006-GENCC_100002"	"HGNC:13487"	"VPS35"	"MONDO:0013625"	"Parkinson disease 17"	"OMIM:614203"	"{Parkinson disease 17}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13487"	"VPS35"	"OMIM:614203"	"PARKINSON DISEASE 17, 614203"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-28 13:05:25"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:13487.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_22197-OMIM_613647-HP_0000007-GENCC_100003"	"HGNC:22197"	"AP5Z1"	"MONDO:0013342"	"hereditary spastic paraplegia 48"	"OMIM:613647"	"Spastic paraplegia 48, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:22197"	"AP5Z1"	"OMIM:613647"	"SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:26"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:22197.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30322-MONDO_0004976-HP_0000006-GENCC_100003"	"HGNC:30322"	"ARHGEF28"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30322"	"ARHGEF28"	"MONDO:0004976"	"AMYOTROPHIC LATERAL SCLEROSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:26"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:30322.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30322-MONDO_0004976-HP_0000007-GENCC_100003"	"HGNC:30322"	"ARHGEF28"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30322"	"ARHGEF28"	"MONDO:0004976"	"AMYOTROPHIC LATERAL SCLEROSIS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:26"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:30322.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_816-OMIM_302500-HP_0000005-GENCC_100003"	"HGNC:816"	"ATP2B3"	"MONDO:0010547"	"X-linked progressive cerebellar ataxia"	"OMIM:302500"	"?Spinocerebellar ataxia, X-linked 1"	"GENCC:100003"	"Moderate"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:816"	"ATP2B3"	"OMIM:302500"	"SPINOCEREBELLAR ATAXIA, X-LINKED 1"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:26"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:816.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18305-OMIM_300911-HP_0001417-GENCC_100003"	"HGNC:18305"	"ATP6AP2"	"MONDO:0010482"	"X-linked parkinsonism-spasticity syndrome"	"OMIM:300911"	"?Parkinsonism with spasticity, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18305"	"ATP6AP2"	"OMIM:300911"	"?PARKINSONISM WITH SPASTICITY, X-LINKED 300911"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:27"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:18305.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18305-OMIM_300423-HP_0001417-GENCC_100003"	"HGNC:18305"	"ATP6AP2"	"MONDO:0010319"	"syndromic X-linked intellectual disability Hedera type"	"OMIM:300423"	"Intellectual developmental disorder, X-linked syndromic, Hedera type"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18305"	"ATP6AP2"	"OMIM:300423"	"MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE 300423"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:27"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:18305.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_19967-OMIM_616053-HP_0000006-GENCC_100003"	"HGNC:19967"	"CCDC88C"	"MONDO:0014475"	"spinocerebellar ataxia type 40"	"OMIM:616053"	"?Spinocerebellar ataxia 40"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19967"	"CCDC88C"	"OMIM:616053"	"?Spinocerebellar ataxia 40"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:27"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:19967.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16744-MONDO_0013928-HP_0000005-GENCC_100003"	"HGNC:16744"	"CIZ1"	"MONDO:0013928"	"dystonia 23"	"MONDO:0013928"	"dystonia 23"	"GENCC:100003"	"Moderate"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16744"	"CIZ1"	"MONDO:0013928"	"DYSTONIA 23"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:28"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:16744.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25223-OMIM_146500-HP_0000007-GENCC_100003"	"HGNC:25223"	"COQ2"	"MONDO:0007803"	"multiple system atrophy"	"OMIM:146500"	"{Multiple system atrophy, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25223"	"COQ2"	"OMIM:146500"	"MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO, 146500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:28"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:25223.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2671-MONDO_0004976-HP_0000006-GENCC_100003"	"HGNC:2671"	"DAO"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2671"	"DAO"	"MONDO:0004976"	"AMYOTROPHIC LATERAL SCLEROSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:28"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:2671.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3296-OMIM_614251-HP_0000006-GENCC_100003"	"HGNC:3296"	"EIF4G1"	"MONDO:0013653"	"Parkinson disease 18, autosomal dominant, susceptibility to"	"OMIM:614251"	"{Parkinson disease 18}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3296"	"EIF4G1"	"OMIM:614251"	"PARKINSONS DISEASE 18, 614251"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:29"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3296.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3432-OMIM_615515-HP_0000006-GENCC_100003"	"HGNC:3432"	"ERBB4"	"MONDO:0014223"	"amyotrophic lateral sclerosis type 19"	"OMIM:615515"	"Amyotrophic lateral sclerosis 19"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3432"	"ERBB4"	"OMIM:615515"	"AMYOTROPHIC LATERAL SCLEROSIS 19, 615515"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:29"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3432.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3508-MONDO_0004976-HP_0000006-GENCC_100003"	"HGNC:3508"	"EWSR1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3508"	"EWSR1"	"MONDO:0004976"	"AMYOTROPHIC LATERAL SCLEROSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:29"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:3508.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4189-OMIM_231670-HP_0000007-GENCC_100003"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"OMIM:231670"	"Glutaricaciduria, type I"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4189"	"GCDH"	"OMIM:231670"	"GLUTARICACIDURIA, TYPE I, 231670"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:30"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:4189.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11960-OMIM_607688-HP_0000006-GENCC_100003"	"HGNC:11960"	"GIGYF2"	"MONDO:0011896"	"Parkinson disease 11, autosomal dominant, susceptibility to"	"OMIM:607688"	"{Parkinson disease 11}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11960"	"GIGYF2"	"OMIM:607688"	"{PARKINSON DISEASE 11}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:30"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11960.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5033-MONDO_0004976-HP_0000006-GENCC_100003"	"HGNC:5033"	"HNRNPA2B1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5033"	"HNRNPA2B1"	"MONDO:0004976"	"AMYOTROPHIC LATERAL SCLEROSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:30"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:5033.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25133-OMIM_611390-HP_0000007-GENCC_100003"	"HGNC:25133"	"MARS2"	"MONDO:0012664"	"spastic ataxia 3"	"OMIM:611390"	"Spastic ataxia 3, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25133"	"MARS2"	"OMIM:611390"	"SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:31"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:25133.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6912-OMIM_606070-HP_0000006-GENCC_100003"	"HGNC:6912"	"MATR3"	"MONDO:0011632"	"amyotrophic lateral sclerosis type 21"	"OMIM:606070"	"Amyotrophic lateral sclerosis 21"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6912"	"MATR3"	"OMIM:606070"	"AMYOTROPHIC LATERAL SCLEROSIS 21"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:31"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:6912.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7744-OMIM_617892-HP_0000006-GENCC_100003"	"HGNC:7744"	"NEK1"	"MONDO:0054750"	"amyotrophic lateral sclerosis, susceptibility to, 24"	"OMIM:617892"	"{Amyotrophic lateral sclerosis, susceptibility to, 24}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7744"	"NEK1"	"OMIM:617892"	"AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:32"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:7744.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8157-OMIM_614373-HP_0000007-GENCC_100003"	"HGNC:8157"	"SIGMAR1"	"MONDO:0013715"	"amyotrophic lateral sclerosis type 16"	"OMIM:614373"	"?Amyotrophic lateral sclerosis 16, juvenile"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8157"	"SIGMAR1"	"OMIM:614373"	"AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, 614373"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:33"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:8157.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11140-OMIM_127750-HP_0000005-GENCC_100003"	"HGNC:11140"	"SNCB"	"MONDO:0007488"	"Lewy body dementia"	"OMIM:127750"	"Dementia, Lewy body"	"GENCC:100003"	"Moderate"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11140"	"SNCB"	"OMIM:127750"	"DEMENTIA, LEWY BODY, 127750"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:33"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11140.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15592-MONDO_0004976-HP_0000006-GENCC_100003"	"HGNC:15592"	"SS18L1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15592"	"SS18L1"	"MONDO:0004976"	"AMYOTROPHIC LATERAL SCLEROSIS 105400"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:33"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:15592.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11535-OMIM_314250-HP_0001417-GENCC_100003"	"HGNC:11535"	"TAF1"	"MONDO:0010747"	"X-linked dystonia-parkinsonism"	"OMIM:314250"	"Dystonia-Parkinsonism, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11535"	"TAF1"	"OMIM:314250"	"DYSTONIA-PARKINSONISM, X-LINKED, 314250"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:34"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:11535.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12407-OMIM_616208-HP_0000006-GENCC_100003"	"HGNC:12407"	"TUBA4A"	"MONDO:0014531"	"amyotrophic lateral sclerosis type 22"	"OMIM:616208"	"Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12407"	"TUBA4A"	"OMIM:616208"	"AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, 616208"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:34"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:12407.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20774-OMIM_612438-HP_0000006-GENCC_100003"	"HGNC:20774"	"TUBB4A"	"MONDO:0012905"	"hypomyelinating leukodystrophy 6"	"OMIM:612438"	"Leukodystrophy, hypomyelinating, 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20774"	"TUBB4A"	"OMIM:612438"	"LEUKODYSTROPHY, HYPOMYELINATING, 6 612438"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:35"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:20774.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23594-OMIM_616840-HP_0000007-GENCC_100003"	"HGNC:23594"	"VPS13C"	"MONDO:0014796"	"autosomal recessive early-onset Parkinson disease 23"	"OMIM:616840"	"Parkinson disease 23, autosomal recessive, early onset"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23594"	"VPS13C"	"OMIM:616840"	"PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-28 13:05:35"	"https://panelapp.genomicsengland.co.uk/panels/474"	""	""	""	"000104.pa474.v2.39.hgnc:23594.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_329-OMIM_615120-HP_0000007-GENCC_100002"	"HGNC:329"	"AGRN"	"MONDO:0014052"	"congenital myasthenic syndrome 8"	"OMIM:615120"	"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:329"	"AGRN"	"OMIM:615120"	"MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, 615120"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:36"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:329.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28287-OMIM_616227-HP_0000007-GENCC_100002"	"HGNC:28287"	"ALG14"	"MONDO:0014542"	"congenital myasthenic syndrome 15"	"OMIM:616227"	"?Myasthenic syndrome, congenital, 15, without tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28287"	"ALG14"	"OMIM:616227"	"?MYASTHENIC SYNDROME, CONGENITAL, 15, WITHOUT TUBULAR AGGREGATES, 616227"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:36"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:28287.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23159-OMIM_616228-HP_0000007-GENCC_100002"	"HGNC:23159"	"ALG2"	"MONDO:0014543"	"congenital myasthenic syndrome 14"	"OMIM:616228"	"Myasthenic syndrome, congenital, 14, with tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23159"	"ALG2"	"OMIM:616228"	"MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, 616228"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:37"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:23159.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1912-OMIM_254210-HP_0000007-GENCC_100002"	"HGNC:1912"	"CHAT"	"MONDO:0009689"	"congenital myasthenic syndrome 6"	"OMIM:254210"	"Myasthenic syndrome, congenital, 6, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1912"	"CHAT"	"OMIM:254210"	"MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, 254210"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:37"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1912.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1955-OMIM_601462-HP_0000006-GENCC_100002"	"HGNC:1955"	"CHRNA1"	"MONDO:0011088"	"congenital myasthenic syndrome 1A"	"OMIM:601462"	"Myasthenic syndrome, congenital, 1A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1955"	"CHRNA1"	"OMIM:601462"	"MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, 601462"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:38"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1955.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1955-OMIM_608930-HP_0000006-GENCC_100002"	"HGNC:1955"	"CHRNA1"	"MONDO:0012156"	"myasthenic syndrome, congenital, 1B, fast-channel"	"OMIM:608930"	"Myasthenic syndrome, congenital, 1B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1955"	"CHRNA1"	"OMIM:608930"	"MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL, 608930"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:38"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1955.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_1955-OMIM_608930-HP_0000007-GENCC_100002"	"HGNC:1955"	"CHRNA1"	"MONDO:0012156"	"myasthenic syndrome, congenital, 1B, fast-channel"	"OMIM:608930"	"Myasthenic syndrome, congenital, 1B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1955"	"CHRNA1"	"OMIM:608930"	"MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL, 608930"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:38"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1955.m2.p3"	"2021-03-31"
"GENCC_000104-HGNC_1961-OMIM_616313-HP_0000006-GENCC_100002"	"HGNC:1961"	"CHRNB1"	"MONDO:0014581"	"congenital myasthenic syndrome 2A"	"OMIM:616313"	"Myasthenic syndrome, congenital, 2A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1961"	"CHRNB1"	"OMIM:616313"	"MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, 616313"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:39"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1961.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1961-OMIM_616314-HP_0000007-GENCC_100002"	"HGNC:1961"	"CHRNB1"	"MONDO:0014582"	"congenital myasthenic syndrome 2C"	"OMIM:616314"	"?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1961"	"CHRNB1"	"OMIM:616314"	"?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 616314"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:39"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1961.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_1965-OMIM_616321-HP_0000006-GENCC_100002"	"HGNC:1965"	"CHRND"	"MONDO:0014583"	"congenital myasthenic syndrome 3A"	"OMIM:616321"	"?Myasthenic syndrome, congenital, 3A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1965"	"CHRND"	"OMIM:616321"	"?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, 616321"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:40"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1965.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1965-OMIM_616323-HP_0000007-GENCC_100002"	"HGNC:1965"	"CHRND"	"MONDO:0014585"	"congenital myasthenic syndrome 3C"	"OMIM:616323"	"?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1965"	"CHRND"	"OMIM:616323"	"?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 616323"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:40"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1965.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_1965-OMIM_616322-HP_0000007-GENCC_100002"	"HGNC:1965"	"CHRND"	"MONDO:0014584"	"congenital myasthenic syndrome 3B"	"OMIM:616322"	"Myasthenic syndrome, congenital, 3B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1965"	"CHRND"	"OMIM:616322"	"MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, 616322"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:41"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1965.m2.p3"	"2021-03-31"
"GENCC_000104-HGNC_1966-OMIM_605809-HP_0000006-GENCC_100002"	"HGNC:1966"	"CHRNE"	"MONDO:0011600"	"congenital myasthenic syndrome 4A"	"OMIM:605809"	"Myasthenic syndrome, congenital, 4A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1966"	"CHRNE"	"OMIM:605809"	"MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, 605809"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:41"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1966.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1966-OMIM_605809-HP_0000007-GENCC_100002"	"HGNC:1966"	"CHRNE"	"MONDO:0011600"	"congenital myasthenic syndrome 4A"	"OMIM:605809"	"Myasthenic syndrome, congenital, 4A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1966"	"CHRNE"	"OMIM:605809"	"MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, 605809"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:41"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1966.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_1966-OMIM_616324-HP_0000007-GENCC_100002"	"HGNC:1966"	"CHRNE"	"MONDO:0014586"	"congenital myasthenic syndrome 4B"	"OMIM:616324"	"Myasthenic syndrome, congenital, 4B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1966"	"CHRNE"	"OMIM:616324"	"MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, 616324"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:42"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1966.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_1966-OMIM_608931-HP_0000007-GENCC_100002"	"HGNC:1966"	"CHRNE"	"MONDO:0012157"	"congenital myasthenic syndrome 4C"	"OMIM:608931"	"Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1966"	"CHRNE"	"OMIM:608931"	"MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 608931"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:42"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1966.m2.p3"	"2021-03-31"
"GENCC_000104-HGNC_1967-MONDO_0018326-HP_0000007-GENCC_100002"	"HGNC:1967"	"CHRNG"	"MONDO:0018326"	"transient neonatal myasthenia gravis"	"MONDO:0018326"	"transient neonatal myasthenia gravis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1967"	"CHRNG"	"MONDO:0018326"	"transient neonatal myasthenia gravis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:43"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:1967.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2190-OMIM_616720-HP_0000007-GENCC_100002"	"HGNC:2190"	"COL13A1"	"MONDO:0014745"	"congenital myasthenic syndrome 19"	"OMIM:616720"	"Myasthenic syndrome, congenital, 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2190"	"COL13A1"	"OMIM:616720"	"MYASTHENIC SYNDROME, CONGENITAL, 19, 616720"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:43"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:2190.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2226-OMIM_603034-HP_0000007-GENCC_100002"	"HGNC:2226"	"COLQ"	"MONDO:0011281"	"congenital myasthenic syndrome 5"	"OMIM:603034"	"Myasthenic syndrome, congenital, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2226"	"COLQ"	"OMIM:603034"	"MYASTHENIC SYNDROME, CONGENITAL, 5, 603034"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:44"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:2226.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26594-OMIM_254300-HP_0000007-GENCC_100002"	"HGNC:26594"	"DOK7"	"MONDO:0009690"	"congenital myasthenic syndrome 10"	"OMIM:254300"	"Myasthenic syndrome, congenital, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26594"	"DOK7"	"OMIM:254300"	"MYASTHENIC SYNDROME, CONGENITAL, 10, 254300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:44"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:26594.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2995-OMIM_614750-HP_0000007-GENCC_100002"	"HGNC:2995"	"DPAGT1"	"MONDO:0013883"	"congenital myasthenic syndrome 13"	"OMIM:614750"	"Myasthenic syndrome, congenital, 13, with tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2995"	"DPAGT1"	"OMIM:614750"	"MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, 614750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:44"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:2995.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4241-OMIM_610542-HP_0000007-GENCC_100002"	"HGNC:4241"	"GFPT1"	"MONDO:0012518"	"congenital myasthenic syndrome 12"	"OMIM:610542"	"Myasthenia, congenital, 12, with tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4241"	"GFPT1"	"OMIM:610542"	"MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, 610542"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:45"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:4241.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_22932-MONDO_0018940-HP_0000007-GENCC_100002"	"HGNC:22932"	"GMPPB"	"MONDO:0018940"	"congenital myasthenic syndrome"	"MONDO:0018940"	"congenital myasthenic syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:22932"	"GMPPB"	"MONDO:0018940"	"CONGENITAL MYASTHENIC SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:45"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:22932.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6696-OMIM_616304-HP_0000007-GENCC_100002"	"HGNC:6696"	"LRP4"	"MONDO:0014578"	"congenital myasthenic syndrome 17"	"OMIM:616304"	"?Myasthenic syndrome, congenital, 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6696"	"LRP4"	"OMIM:616304"	"MYASTHENIC SYNDROME, CONGENITAL, 17, 616304"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:45"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:6696.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7525-OMIM_616325-HP_0000007-GENCC_100002"	"HGNC:7525"	"MUSK"	"MONDO:0014587"	"congenital myasthenic syndrome 9"	"OMIM:616325"	"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7525"	"MUSK"	"OMIM:616325"	"MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 616325"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:46"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:7525.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7608-OMIM_618198-HP_0000007-GENCC_100002"	"HGNC:7608"	"MYO9A"	"MONDO:0032597"	"myasthenic syndrome, congenital, 24, presynaptic"	"OMIM:618198"	"Myasthenic syndrome, congenital, 24, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7608"	"MYO9A"	"OMIM:618198"	"MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC, OMIM:618198"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:46"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:7608.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9069-MONDO_0018940-HP_0000007-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0018940"	"congenital myasthenic syndrome"	"MONDO:0018940"	"congenital myasthenic syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9069"	"PLEC"	"MONDO:0018940"	"CONGENITAL MYASTHENIC SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:46"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:9069.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9863-OMIM_616326-HP_0000007-GENCC_100002"	"HGNC:9863"	"RAPSN"	"MONDO:0014588"	"congenital myasthenic syndrome 11"	"OMIM:616326"	"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9863"	"RAPSN"	"OMIM:616326"	"MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 616326"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:47"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:9863.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10591-OMIM_614198-HP_0000007-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0013620"	"congenital myasthenic syndrome 16"	"OMIM:614198"	"Myasthenic syndrome, congenital, 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10591"	"SCN4A"	"OMIM:614198"	"MYASTHENIC SYNDROME, CONGENITAL, 16, 614198"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:47"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:10591.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10936-OMIM_617239-HP_0000007-GENCC_100002"	"HGNC:10936"	"SLC18A3"	"MONDO:0014983"	"congenital myasthenic syndrome 21"	"OMIM:617239"	"Myasthenic syndrome, congenital, 21, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10936"	"SLC18A3"	"OMIM:617239"	"MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC, 617239"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:48"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:10936.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10979-OMIM_618197-HP_0000007-GENCC_100002"	"HGNC:10979"	"SLC25A1"	"MONDO:0032596"	"myasthenic syndrome, congenital, 23, presynaptic"	"OMIM:618197"	"Myasthenic syndrome, congenital, 23, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10979"	"SLC25A1"	"OMIM:618197"	"MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:48"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:10979.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14025-OMIM_617143-HP_0000007-GENCC_100002"	"HGNC:14025"	"SLC5A7"	"MONDO:0014939"	"congenital myasthenic syndrome 20"	"OMIM:617143"	"Myasthenic syndrome, congenital, 20, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14025"	"SLC5A7"	"OMIM:617143"	"MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC, 617143"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:49"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:14025.m1.p"	"2021-03-31"
"GENCC_000104-HGNC_11510-OMIM_616040-HP_0000006-GENCC_100002"	"HGNC:11510"	"SYT2"	"MONDO:0014468"	"congenital myasthenic syndrome 7"	"OMIM:616040"	"Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11510"	"SYT2"	"OMIM:616040"	"MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, 616040"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:49"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:11510.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12642-OMIM_618323-HP_0000007-GENCC_100002"	"HGNC:12642"	"VAMP1"	"MONDO:0032675"	"myasthenic syndrome, congenital, 25, presynaptic"	"OMIM:618323"	"Myasthenic syndrome, congenital, 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12642"	"VAMP1"	"OMIM:618323"	"Myasthenic syndrome, congenital, 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:50"	"https://panelapp.genomicsengland.co.uk/panels/232"	""	""	""	"000104.pa232.v2.8.hgnc:12642.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_560-OMIM_304340-HP_0001417-GENCC_100002"	"HGNC:560"	"AP1S2"	"MONDO:0010574"	"syndromic X-linked intellectual disability 5"	"OMIM:304340"	"Pettigrew syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:560"	"AP1S2"	"OMIM:304340"	"MENTAL RETARDATION, X-LINKED SYNDROMIC 5"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:50"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:560.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_714-OMIM_253200-HP_0000007-GENCC_100002"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"OMIM:253200"	"Mucopolysaccharidosis type VI (Maroteaux-Lamy)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:714"	"ARSB"	"OMIM:253200"	"MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY 253200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:50"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:714.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28596-OMIM_615181-HP_0000007-GENCC_100002"	"HGNC:28596"	"B3GALNT2"	"MONDO:0014071"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"	"OMIM:615181"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28596"	"B3GALNT2"	"OMIM:615181"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11  615181"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:50"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:28596.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20207-OMIM_261540-HP_0000007-GENCC_100002"	"HGNC:20207"	"B3GLCT"	"MONDO:0009856"	"Peters plus syndrome"	"OMIM:261540"	"Peters-plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20207"	"B3GLCT"	"OMIM:261540"	"PETERS-PLUS SYNDROME  261540"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:51"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:20207.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1149-OMIM_257300-HP_0000007-GENCC_100002"	"HGNC:1149"	"BUB1B"	"MONDO:0009759"	"mosaic variegated aneuploidy syndrome 1"	"OMIM:257300"	"Mosaic variegated aneuploidy syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1149"	"BUB1B"	"OMIM:257300"	"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1  257300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:51"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:1149.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_29253-OMIM_612285-HP_0000007-GENCC_100002"	"HGNC:29253"	"CC2D2A"	"MONDO:0012849"	"Joubert syndrome 9"	"OMIM:612285"	"Joubert syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29253"	"CC2D2A"	"OMIM:612285"	"JOUBERT SYNDROME 9  612285"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:51"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:29253.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19967-OMIM_236600-HP_0000007-GENCC_100002"	"HGNC:19967"	"CCDC88C"	"MONDO:0009360"	"hydrocephalus, nonsyndromic, autosomal recessive 1"	"OMIM:236600"	"Hydrocephalus, congenital, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19967"	"CCDC88C"	"OMIM:236600"	"HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:51"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:19967.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1857-OMIM_243605-HP_0000007-GENCC_100002"	"HGNC:1857"	"CENPF"	"MONDO:0009477"	"Stromme syndrome"	"OMIM:243605"	"Stromme syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1857"	"CENPF"	"OMIM:243605"	"STROMME SYNDROME  243605"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:51"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:1857.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17966-OMIM_615862-HP_0000007-GENCC_100002"	"HGNC:17966"	"CEP83"	"MONDO:0014374"	"nephronophthisis 18"	"OMIM:615862"	"Nephronophthisis 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17966"	"CEP83"	"OMIM:615862"	"NEPHRONOPHTHISIS 18  615862"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:52"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:17966.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2202-OMIM_175780-HP_0000006-GENCC_100002"	"HGNC:2202"	"COL4A1"	"MONDO:0008289"	"brain small vessel disease 1 with or without ocular anomalies"	"OMIM:175780"	"Brain small vessel disease with or without ocular anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2202"	"COL4A1"	"OMIM:175780"	"Brain small vessel disease with or without ocular anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:52"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:2202.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18688-OMIM_219730-HP_0000007-GENCC_100002"	"HGNC:18688"	"CRB2"	"MONDO:0009063"	"ventriculomegaly-cystic kidney disease"	"OMIM:219730"	"Ventriculomegaly with cystic kidney disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18688"	"CRB2"	"OMIM:219730"	"VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE  219730"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:52"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:18688.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2666-OMIM_613818-HP_0000007-GENCC_100002"	"HGNC:2666"	"DAG1"	"MONDO:0013440"	"autosomal recessive limb-girdle muscular dystrophy type 2P"	"OMIM:613818"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2666"	"DAG1"	"OMIM:613818"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE, TYPE C, 9  613818"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:52"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:2666.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19344-OMIM_617281-HP_0000007-GENCC_100002"	"HGNC:19344"	"DENND5A"	"MONDO:0015002"	"developmental and epileptic encephalopathy, 49"	"OMIM:617281"	"Developmental and epileptic encephalopathy 49"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19344"	"DENND5A"	"OMIM:617281"	"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:52"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:19344.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2859-OMIM_602398-HP_0000007-GENCC_100002"	"HGNC:2859"	"DHCR24"	"MONDO:0011217"	"desmosterolosis"	"OMIM:602398"	"Desmosterolosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2859"	"DHCR24"	"OMIM:602398"	"DESMOSTEROLOSIS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:52"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:2859.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3330-OMIM_600348-HP_0000007-GENCC_100002"	"HGNC:3330"	"EML1"	"MONDO:0010873"	"band heterotopia of brain"	"OMIM:600348"	"Band heterotopia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3330"	"EML1"	"OMIM:600348"	"BAND HETEROTOPIA, 600348"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:53"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:3330.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_22140-OMIM_259775-HP_0000007-GENCC_100002"	"HGNC:22140"	"FAM20C"	"MONDO:0009821"	"lethal osteosclerotic bone dysplasia"	"OMIM:259775"	"Raine syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:22140"	"FAM20C"	"OMIM:259775"	"RAINE SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:53"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:22140.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3583-MONDO_0010752-HP_0001417-GENCC_100002"	"HGNC:3583"	"FANCB"	"MONDO:0010752"	"VACTERL association, X-linked, with or without hydrocephalus"	"MONDO:0010752"	"VACTERL association, X-linked, with or without hydrocephalus"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3583"	"FANCB"	"MONDO:0010752"	"VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:53"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:3583.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3690-OMIM_100800-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0007037"	"achondroplasia"	"OMIM:100800"	"Achondroplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3690"	"FGFR3"	"OMIM:100800"	"ACHONDROPLASIA 100800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:53"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:3690.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17997-OMIM_613153-HP_0000007-GENCC_100002"	"HGNC:17997"	"FKRP"	"MONDO:0013157"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5"	"OMIM:613153"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17997"	"FKRP"	"OMIM:613153"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:53"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:17997.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3622-OMIM_253800-HP_0000007-GENCC_100002"	"HGNC:3622"	"FKTN"	"MONDO:0009678"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"	"OMIM:253800"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3622"	"FKTN"	"OMIM:253800"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:54"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:3622.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20105-OMIM_225790-HP_0000007-GENCC_100002"	"HGNC:20105"	"FLVCR2"	"MONDO:0009168"	"Fowler syndrome"	"OMIM:225790"	"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20105"	"FLVCR2"	"OMIM:225790"	"PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME  225790"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:54"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:20105.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4319-OMIM_175700-HP_0000006-GENCC_100002"	"HGNC:4319"	"GLI3"	"MONDO:0008287"	"Greig cephalopolysyndactyly syndrome"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4319"	"GLI3"	"OMIM:175700"	"GREIG CEPHALOPOLYSYNDACTYLY SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:54"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:4319.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_29501-OMIM_604213-HP_0000007-GENCC_100002"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"OMIM:604213"	"Chudley-McCullough syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:29501"	"GPSM2"	"OMIM:604213"	"CHUDLEY-MCCULLOUGH SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:54"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:29501.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26558-OMIM_236680-HP_0000007-GENCC_100002"	"HGNC:26558"	"HYLS1"	"MONDO:0009365"	"hydrolethalus syndrome 1"	"OMIM:236680"	"Hydrolethalus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26558"	"HYLS1"	"OMIM:236680"	"HYDROLETHALUS SYNDROME  236680"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:54"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:26558.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5389-OMIM_309900-HP_0001417-GENCC_100002"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"OMIM:309900"	"Mucopolysaccharidosis II"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5389"	"IDS"	"OMIM:309900"	"MUCOPOLYSACCHARIDOSIS II 309900"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:54"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:5389.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_37276-OMIM_614643-HP_0000007-GENCC_100002"	"HGNC:37276"	"CRPPA"	"MONDO:0013835"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"	"OMIM:614643"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:37276"	"CRPPA"	"OMIM:614643"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:54"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:37276.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19960-OMIM_616546-HP_0000007-GENCC_100002"	"HGNC:19960"	"KIAA0586"	"MONDO:0014688"	"short-rib thoracic dysplasia 14 with polydactyly"	"OMIM:616546"	"Short-rib thoracic dysplasia 14 with polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19960"	"KIAA0586"	"OMIM:616546"	"SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY  616546"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:55"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:19960.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26953-OMIM_617822-HP_0000007-GENCC_100002"	"HGNC:26953"	"BLTP1"	"MONDO:0060631"	"Alkuraya-Kucinskas syndrome"	"OMIM:617822"	"Alkuraya-Kucinskas syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26953"	"KIAA1109"	"OMIM:617822"	"ALKURAYA-KUCINSKAS SYNDROME	617822"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:55"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:26953.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6470-OMIM_304100-HP_0001417-GENCC_100002"	"HGNC:6470"	"L1CAM"	"MONDO:0010569"	"X-linked complicated corpus callosum dysgenesis"	"OMIM:304100"	"?Corpus callosum, partial agenesis of"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6470"	"L1CAM"	"OMIM:304100"	"CORPUS CALLOSUM, PARTIAL AGENESIS OF"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:55"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:6470.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6470-OMIM_303350-HP_0001417-GENCC_100002"	"HGNC:6470"	"L1CAM"	"MONDO:0010559"	"MASA syndrome"	"OMIM:303350"	"MASA syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6470"	"L1CAM"	"OMIM:303350"	"MASA SYNDROME"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:56"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:6470.m1.p6"	"2021-03-31"
"GENCC_000104-HGNC_6470-OMIM_307000-HP_0001417-GENCC_100002"	"HGNC:6470"	"L1CAM"	"MONDO:0010611"	"X-linked hydrocephalus with stenosis of the aqueduct of Sylvius"	"OMIM:307000"	"Hydrocephalus, congenital, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6470"	"L1CAM"	"OMIM:307000"	"HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE 307000"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:55"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:6470.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_6486-OMIM_615191-HP_0000007-GENCC_100002"	"HGNC:6486"	"LAMB1"	"MONDO:0014077"	"cobblestone lissencephaly without muscular or ocular involvement"	"OMIM:615191"	"Lissencephaly 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6486"	"LAMB1"	"OMIM:615191"	"LISSENCEPHALY 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:56"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:6486.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6511-OMIM_613154-HP_0000007-GENCC_100002"	"HGNC:6511"	"LARGE1"	"MONDO:0013158"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6"	"OMIM:613154"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6511"	"LARGE1"	"OMIM:613154"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 6 613154"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:56"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:6511.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_33778-OMIM_254940-HP_0000007-GENCC_100002"	"HGNC:33778"	"MYMK"	"MONDO:0009700"	"Carey-Fineman-Ziter syndrome"	"OMIM:254940"	"Carey-Fineman-Ziter syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:33778"	"MYMK"	"OMIM:254940"	"CAREY-FINEMAN-ZITER SYNDROME, OMIM:254940"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:56"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:33778.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14234-OMIM_117550-HP_0000006-GENCC_100002"	"HGNC:14234"	"NSD1"	"MONDO:0007299"	"Sotos syndrome 1"	"OMIM:117550"	"Sotos syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14234"	"NSD1"	"OMIM:117550"	"SOTOS SYNDROME 1  117550"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:56"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:14234.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21652-OMIM_259720-HP_0000007-GENCC_100002"	"HGNC:21652"	"OSTM1"	"MONDO:0009817"	"autosomal recessive osteopetrosis 5"	"OMIM:259720"	"Osteopetrosis, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21652"	"OSTM1"	"OMIM:259720"	"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5  259720"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:57"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:21652.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8975-OMIM_602501-HP_0000006-GENCC_100002"	"HGNC:8975"	"PIK3CA"	"MONDO:0011240"	"megalencephaly-capillary malformation-polymicrogyria syndrome"	"OMIM:602501"	"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8975"	"PIK3CA"	"OMIM:602501"	"MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 602501"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:57"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:8975.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9071-OMIM_217090-HP_0000007-GENCC_100002"	"HGNC:9071"	"PLG"	"MONDO:0009009"	"hypoplasminogenemia"	"OMIM:217090"	"Plasminogen deficiency, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9071"	"PLG"	"OMIM:217090"	"PLASMINOGEN DEFICIENCY, TYPE I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:57"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:9071.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19139-OMIM_253280-HP_0000007-GENCC_100002"	"HGNC:19139"	"POMGNT1"	"MONDO:0009667"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3"	"OMIM:253280"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19139"	"POMGNT1"	"OMIM:253280"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:57"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:19139.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25902-OMIM_614830-HP_0000007-GENCC_100002"	"HGNC:25902"	"POMGNT2"	"MONDO:0013904"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8"	"OMIM:614830"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25902"	"POMGNT2"	"OMIM:614830"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8  614830"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:57"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:25902.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26267-OMIM_615249-HP_0000007-GENCC_100002"	"HGNC:26267"	"POMK"	"MONDO:0014101"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"	"OMIM:615249"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26267"	"POMK"	"OMIM:615249"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:58"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:26267.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9202-OMIM_236670-HP_0000007-GENCC_100002"	"HGNC:9202"	"POMT1"	"MONDO:0009364"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1"	"OMIM:236670"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9202"	"POMT1"	"OMIM:236670"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 1 236670"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:58"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:9202.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19743-OMIM_613150-HP_0000007-GENCC_100002"	"HGNC:19743"	"POMT2"	"MONDO:0013154"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2"	"OMIM:613150"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19743"	"POMT2"	"OMIM:613150"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 2 613150"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:58"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:19743.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9312-OMIM_616355-HP_0000006-GENCC_100002"	"HGNC:9312"	"PPP2R5D"	"MONDO:0014602"	"Hogue-Janssens syndrome 1"	"OMIM:616355"	"Houge-Janssens syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9312"	"PPP2R5D"	"OMIM:616355"	"MENTAL RETARDATION, AUTOSOMAL DOMINANT 35"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:58"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:9312.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9585-OMIM_109400-HP_0000006-GENCC_100002"	"HGNC:9585"	"PTCH1"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"OMIM:109400"	"Basal cell nevus syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9585"	"PTCH1"	"OMIM:109400"	"BASAL CELL NEVUS SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:58"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:9585.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21150-OMIM_616260-HP_0000006-GENCC_100002"	"HGNC:21150"	"RNF125"	"MONDO:0014553"	"Tenorio syndrome"	"OMIM:616260"	"Tenorio syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21150"	"RNF125"	"OMIM:616260"	"TENORIO SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:59"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:21150.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10432-OMIM_303600-HP_0001417-GENCC_100002"	"HGNC:10432"	"RPS6KA3"	"MONDO:0010561"	"Coffin-Lowry syndrome"	"OMIM:303600"	"Coffin-Lowry syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10432"	"RPS6KA3"	"OMIM:303600"	"COFFIN-LOWRY SYNDROME"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:59"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:10432.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30172-OMIM_611087-HP_0000007-GENCC_100002"	"HGNC:30172"	"STRADA"	"MONDO:0012611"	"polyhydramnios, megalencephaly, and symptomatic epilepsy"	"OMIM:611087"	"Polyhydramnios, megalencephaly, and symptomatic epilepsy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30172"	"STRADA"	"OMIM:611087"	"POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, 611087"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:59"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:30172.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16466-OMIM_109400-HP_0000006-GENCC_100002"	"HGNC:16466"	"SUFU"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"OMIM:109400"	"Basal cell nevus syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16466"	"SUFU"	"OMIM:109400"	"BASAL CELL NEVUS SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:59"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:16466.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20376-OMIM_272200-HP_0000007-GENCC_100002"	"HGNC:20376"	"SUMF1"	"MONDO:0010088"	"mucosulfatidosis"	"OMIM:272200"	"Multiple sulfatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20376"	"SUMF1"	"OMIM:272200"	"MULTIPLE SULFATASE DEFICIENCY 272200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:05:59"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:20376.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13530-OMIM_615041-HP_0000007-GENCC_100002"	"HGNC:13530"	"RXYLT1"	"MONDO:0014022"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10"	"OMIM:615041"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13530"	"RXYLT1"	"OMIM:615041"	"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 10  615041"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:06:00"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:13530.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12632-OMIM_300919-HP_0001417-GENCC_100002"	"HGNC:12632"	"USP9X"	"MONDO:0010487"	"intellectual disability, X-linked 99"	"OMIM:300919"	"Intellectual developmental disorder, X-linked 99"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12632"	"USP9X"	"OMIM:300919"	"MENTAL RETARDATION, X-LINKED 99 300919 XLR"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:06:00"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:12632.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12632-OMIM_300968-HP_0001417-GENCC_100002"	"HGNC:12632"	"USP9X"	"MONDO:0010502"	"intellectual disability, X-linked 99, syndromic, female-restricted"	"OMIM:300968"	"Intellectual developmental disorder, X-linked 99, syndromic, female-restricted"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12632"	"USP9X"	"OMIM:300968"	"MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED 300968"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:06:00"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:12632.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_28984-OMIM_220210-HP_0000007-GENCC_100002"	"HGNC:28984"	"WASHC5"	"MONDO:0009073"	"Ritscher-Schinzel syndrome 1"	"OMIM:220210"	"Ritscher-Schinzel syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28984"	"WASHC5"	"OMIM:220210"	"RITSCHER-SCHINZEL SYNDROME 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:06:01"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:28984.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13503-OMIM_259050-HP_0000006-GENCC_100002"	"HGNC:13503"	"ZBTB20"	"MONDO:0009798"	"Primrose syndrome"	"OMIM:259050"	"Primrose syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13503"	"ZBTB20"	"OMIM:259050"	"PRIMROSE SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:06:01"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:13503.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12873-OMIM_609637-HP_0000006-GENCC_100002"	"HGNC:12873"	"ZIC2"	"MONDO:0012322"	"holoprosencephaly 5"	"OMIM:609637"	"Holoprosencephaly 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12873"	"ZIC2"	"OMIM:609637"	"HOLOPROSENCEPHALY 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:06:01"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:12873.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12874-OMIM_314390-HP_0001417-GENCC_100002"	"HGNC:12874"	"ZIC3"	"MONDO:0010752"	"VACTERL association, X-linked, with or without hydrocephalus"	"OMIM:314390"	"VACTERL association, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12874"	"ZIC3"	"OMIM:314390"	"VACTERL ASSOCIATION, X-LINKED"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-29 13:06:01"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:12874.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18060-OMIM_300215-HP_0001417-GENCC_100003"	"HGNC:18060"	"ARX"	"MONDO:0010268"	"X-linked lissencephaly with abnormal genitalia"	"OMIM:300215"	"Lissencephaly, X-linked 2"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18060"	"ARX"	"OMIM:300215"	"HYDRANENCEPHALY WITH ABNORMAL GENITALIA"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:01"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:18060.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15629-MONDO_0014120-HP_0000007-GENCC_100003"	"HGNC:15629"	"B3GNT2"	"MONDO:0014120"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	"MONDO:0014120"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15629"	"B3GNT2"	"MONDO:0014120"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:02"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:15629.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2063-OMIM_300886-HP_0001417-GENCC_100003"	"HGNC:2063"	"CLIC2"	"MONDO:0010473"	"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"	"OMIM:300886"	"Intellectual developmental disorder, X-linked, syndromic 32"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2063"	"CLIC2"	"OMIM:300886"	"?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Limited"	"2022-06-09 00:00:00"	"https://panelapp.genomicsengland.co.uk/panels/285"	""	"22814392;25927380;28333917;31349857"	"https://panelapp.genomicsengland.co.uk/#!Guidelines"	"000104.pa285.v3.1595.hgnc:2063.m1.p1"	"2022-06-09"
"GENCC_000104-HGNC_3133-OMIM_300960-HP_0001417-GENCC_100003"	"HGNC:3133"	"EBP"	"MONDO:0010498"	"MEND syndrome"	"OMIM:300960"	"MEND syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3133"	"EBP"	"OMIM:300960"	"MEND SYNDROME"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:02"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:3133.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3754-OMIM_304120-HP_0001417-GENCC_100003"	"HGNC:3754"	"FLNA"	"MONDO:0010571"	"otopalatodigital syndrome type 2"	"OMIM:304120"	"Otopalatodigital syndrome, type II"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3754"	"FLNA"	"OMIM:304120"	"OTOPALATODIGITAL SYNDROME, TYPE II"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:02"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:3754.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14064-OMIM_300863-HP_0001417-GENCC_100003"	"HGNC:14064"	"HDAC6"	"MONDO:0010463"	"X-linked dominant chondrodysplasia, Chassaing-Lacombe type"	"OMIM:300863"	"?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14064"	"HDAC6"	"OMIM:300863"	"?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:03"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:14064.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21219-OMIM_612651-HP_0000007-GENCC_100003"	"HGNC:21219"	"CILK1"	"MONDO:0012980"	"endocrine-cerebro-osteodysplasia syndrome"	"OMIM:612651"	"Endocrine-cerebroosteodysplasia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21219"	"CILK1"	"OMIM:612651"	"ENDOCRINE-CEREBROOSTEODYSPLASIA, OMIM:612651"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:03"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:21219.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30497-OMIM_614120-HP_0000007-GENCC_100003"	"HGNC:30497"	"KIF7"	"MONDO:0013585"	"hydrolethalus syndrome 2"	"OMIM:614120"	"?Hydrolethalus syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30497"	"KIF7"	"OMIM:614120"	"?HYDROLETHALUS SYNDROME 2  614120"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:04"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:30497.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7208-OMIM_615219-HP_0000007-GENCC_100003"	"HGNC:7208"	"MPDZ"	"MONDO:0014085"	"hydrocephalus, nonsyndromic, autosomal recessive 2"	"OMIM:615219"	"Hydrocephalus, congenital, 2, with or without brain or eye anomalies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7208"	"MPDZ"	"OMIM:615219"	"Hydrocephalus, congenital, 2, with or without brain or eye anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:04"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:7208.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7448-OMIM_310400-HP_0001417-GENCC_100003"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked myotubular myopathy"	"OMIM:310400"	"Myopathy, centronuclear, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7448"	"MTM1"	"OMIM:310400"	"MYOTUBULAR MYOPATHY, X-LINKED"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:04"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:7448.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8548-OMIM_112240-HP_0000006-GENCC_100003"	"HGNC:8548"	"P4HB"	"MONDO:0007204"	"Cole-Carpenter syndrome 1"	"OMIM:112240"	"Cole-Carpenter syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8548"	"P4HB"	"OMIM:112240"	"COLE-CARPENTER SYNDROME 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:04"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:8548.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9586-OMIM_109400-HP_0000006-GENCC_100003"	"HGNC:9586"	"PTCH2"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"OMIM:109400"	"Basal cell nevus syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9586"	"PTCH2"	"OMIM:109400"	"BASAL CELL NEVUS SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:04"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:9586.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10706-OMIM_616294-HP_0000007-GENCC_100003"	"HGNC:10706"	"SEC24D"	"MONDO:0014573"	"Cole-Carpenter syndrome 2"	"OMIM:616294"	"Cole-Carpenter syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10706"	"SEC24D"	"OMIM:616294"	"COLE-CARPENTER SYNDROME 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:05"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:10706.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21066-OMIM_248000-HP_0000007-GENCC_100003"	"HGNC:21066"	"TBC1D7"	"MONDO:0009544"	"macrocephaly/megalencephaly syndrome, autosomal recessive"	"OMIM:248000"	"Macrocephaly/megalencephaly syndrome, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21066"	"TBC1D7"	"OMIM:248000"	"MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:05"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:21066.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12782-OMIM_273395-HP_0000007-GENCC_100003"	"HGNC:12782"	"WNT3"	"MONDO:0060764"	"tetraamelia syndrome 1"	"OMIM:273395"	"?Tetra-amelia syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12782"	"WNT3"	"OMIM:273395"	"TETRA-AMELIA SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-29 13:06:06"	"https://panelapp.genomicsengland.co.uk/panels/179"	""	""	""	"000104.pa179.v2.7.hgnc:12782.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_130-OMIM_614042-HP_0000006-GENCC_100002"	"HGNC:130"	"ACTA2"	"MONDO:0013542"	"Moyamoya disease 5"	"OMIM:614042"	"Moyamoya disease 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:130"	"ACTA2"	"OMIM:614042"	"MOYAMOYA DISEASE 5,614042"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:06"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:130.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21708-OMIM_603284-HP_0000006-GENCC_100002"	"HGNC:21708"	"CCM2"	"MONDO:0011304"	"cerebral cavernous malformation 2"	"OMIM:603284"	"Cerebral cavernous malformations-2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21708"	"CCM2"	"OMIM:603284"	"CEREBRAL CAVERNOUS MALFORMATIONS-2 603284"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:06"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:21708.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3349-OMIM_187300-HP_0000006-GENCC_100002"	"HGNC:3349"	"ENG"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"OMIM:187300"	"Telangiectasia, hereditary hemorrhagic, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3349"	"ENG"	"OMIM:187300"	"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 187300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:06"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:3349.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4685-OMIM_615750-HP_0000007-GENCC_100002"	"HGNC:4685"	"GUCY1A1"	"MONDO:0014331"	"Moyamoya disease with early-onset achalasia"	"OMIM:615750"	"Moyamoya 6 with achalasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4685"	"GUCY1A1"	"OMIM:615750"	"MOYAMOYA 6 WITH ACHALASIA, 615750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:07"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:4685.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1573-OMIM_116860-HP_0000006-GENCC_100002"	"HGNC:1573"	"KRIT1"	"MONDO:0020724"	"cerebral cavernous malformation 1"	"OMIM:116860"	"Cavernous malformations of CNS and retina"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1573"	"KRIT1"	"OMIM:116860"	"Cavernous malformations of CNS and retina"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:07"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:1573.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_8761-OMIM_603285-HP_0000006-GENCC_100002"	"HGNC:8761"	"PDCD10"	"MONDO:0011305"	"cerebral cavernous malformation 3"	"OMIM:603285"	"Cerebral cavernous malformations-3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8761"	"PDCD10"	"OMIM:603285"	"CEREBRAL CAVERNOUS MALFORMATIONS 3, 603285"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:07"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:8761.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14539-OMIM_607151-HP_0000006-GENCC_100002"	"HGNC:14539"	"RNF213"	"MONDO:0011784"	"Moyamoya disease 2"	"OMIM:607151"	"{Moyamoya disease 2, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14539"	"RNF213"	"OMIM:607151"	"{MOYAMOYA DISEASE 2, SUSCEPTIBILITY TO}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:08"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:14539.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14539-OMIM_607151-HP_0000007-GENCC_100002"	"HGNC:14539"	"RNF213"	"MONDO:0011784"	"Moyamoya disease 2"	"OMIM:607151"	"{Moyamoya disease 2, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14539"	"RNF213"	"OMIM:607151"	"{MOYAMOYA DISEASE 2, SUSCEPTIBILITY TO}"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:08"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:14539.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_15925-MONDO_0016820-HP_0000007-GENCC_100002"	"HGNC:15925"	"SAMHD1"	"MONDO:0016820"	"Moyamoya disease"	"MONDO:0016820"	"Moyamoya disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15925"	"SAMHD1"	"MONDO:0016820"	"MOYAMOYA DISEASE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:08"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:15925.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13444-OMIM_208050-HP_0000007-GENCC_100002"	"HGNC:13444"	"SLC2A10"	"MONDO:0008818"	"arterial tortuosity syndrome"	"OMIM:208050"	"Arterial tortuosity syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13444"	"SLC2A10"	"OMIM:208050"	"ARTERIAL TORTUOSITY SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:08"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:13444.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6770-OMIM_175050-HP_0000006-GENCC_100002"	"HGNC:6770"	"SMAD4"	"MONDO:0008278"	"juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"OMIM:175050"	"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6770"	"SMAD4"	"OMIM:175050"	"JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME  175050"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:08"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:6770.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30935-OMIM_602531-HP_0000007-GENCC_100002"	"HGNC:30935"	"YY1AP1"	"MONDO:0011243"	"grange syndrome"	"OMIM:602531"	"Grange syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30935"	"YY1AP1"	"OMIM:602531"	"GRANGE SYNDROME, 602531"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-07 13:06:09"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:30935.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1839-OMIM_182410-HP_0000007-GENCC_100003"	"HGNC:1839"	"ADA2"	"MONDO:0008436"	"Sneddon syndrome"	"OMIM:182410"	"Sneddon syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1839"	"ADA2"	"OMIM:182410"	"?SNEDDON SYNDROME  182410"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-07 13:06:09"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:1839.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1839-MONDO_0019170-HP_0000007-GENCC_100003"	"HGNC:1839"	"ADA2"	"MONDO:0019170"	"polyarteritis nodosa"	"MONDO:0019170"	"polyarteritis nodosa"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1839"	"ADA2"	"MONDO:0019170"	"POLYARTERITIS NODOSA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-07 13:06:10"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:1839.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_7765-MONDO_0016820-HP_0000006-GENCC_100003"	"HGNC:7765"	"NF1"	"MONDO:0016820"	"Moyamoya disease"	"MONDO:0016820"	"Moyamoya disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7765"	"NF1"	"MONDO:0016820"	"MOYAMOYA DISEASE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-07 13:06:10"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:7765.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16068-MONDO_0016820-HP_0000007-GENCC_100003"	"HGNC:16068"	"PCNT"	"MONDO:0016820"	"Moyamoya disease"	"MONDO:0016820"	"Moyamoya disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16068"	"PCNT"	"MONDO:0016820"	"MOYAMOYA DISEASE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-01-07 13:06:10"	"https://panelapp.genomicsengland.co.uk/panels/147"	""	""	""	"000104.pa147.v2.8.hgnc:16068.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_132-OMIM_607371-HP_0000006-GENCC_100002"	"HGNC:132"	"ACTB"	"MONDO:0011823"	"developmental malformations-deafness-dystonia syndrome"	"OMIM:607371"	"Dystonia-deafness syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:132"	"ACTB"	"OMIM:607371"	"DYSTONIA, JUVENILE-ONSET, 607371"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:10"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:132.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_132-OMIM_243310-HP_0000006-GENCC_100002"	"HGNC:132"	"ACTB"	"MONDO:0009470"	"Baraitser-Winter syndrome 1"	"OMIM:243310"	"Baraitser-Winter syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:132"	"ACTB"	"OMIM:243310"	"BARAITSER-WINTER SYNDROME 1, 243310"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:10"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:132.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_315-OMIM_610246-HP_0000006-GENCC_100002"	"HGNC:315"	"AFG3L2"	"MONDO:0012450"	"spinocerebellar ataxia type 28"	"OMIM:610246"	"Spinocerebellar ataxia 28"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:315"	"AFG3L2"	"OMIM:610246"	"SPINOCEREBELLAR ATAXIA 28, 610246"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:10"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:315.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_315-OMIM_614487-HP_0000007-GENCC_100002"	"HGNC:315"	"AFG3L2"	"MONDO:0013776"	"spastic ataxia 5"	"OMIM:614487"	"Spastic ataxia 5, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:315"	"AFG3L2"	"OMIM:614487"	"SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:10"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:315.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_14004-OMIM_615034-HP_0000006-GENCC_100002"	"HGNC:14004"	"ANO3"	"MONDO:0014019"	"dystonia 24"	"OMIM:615034"	"Dystonia 24"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14004"	"ANO3"	"OMIM:615034"	"DYSTONIA 24, 615034"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:11"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:14004.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_15984-OMIM_208920-HP_0000007-GENCC_100002"	"HGNC:15984"	"APTX"	"MONDO:0008842"	"ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"	"OMIM:208920"	"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15984"	"APTX"	"OMIM:208920"	"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:11"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:15984.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_795-OMIM_208900-HP_0000007-GENCC_100002"	"HGNC:795"	"ATM"	"MONDO:0008840"	"ataxia telangiectasia"	"OMIM:208900"	"Ataxia-telangiectasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:795"	"ATM"	"OMIM:208900"	"ATAXIA TELANGIECTASIA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:11"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:795.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_800-OMIM_602481-HP_0000006-GENCC_100002"	"HGNC:800"	"ATP1A2"	"MONDO:0011232"	"migraine, familial hemiplegic, 2"	"OMIM:602481"	"Migraine, familial hemiplegic, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:800"	"ATP1A2"	"OMIM:602481"	"FAMILIAL HEMIPLEGIC MIGRAINE TYPE 2, 602481"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:12"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:800.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_800-OMIM_104290-HP_0000006-GENCC_100002"	"HGNC:800"	"ATP1A2"	"MONDO:0007087"	"alternating hemiplegia of childhood 1"	"OMIM:104290"	"Alternating hemiplegia of childhood 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:800"	"ATP1A2"	"OMIM:104290"	"ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:12"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:800.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_25443-OMIM_614298-HP_0000006-GENCC_100002"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"OMIM:614298"	"Neurodegeneration with brain iron accumulation 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25443"	"C19orf12"	"OMIM:614298"	"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION-4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:12"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:25443.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25443-OMIM_614298-HP_0000007-GENCC_100002"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"OMIM:614298"	"Neurodegeneration with brain iron accumulation 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25443"	"C19orf12"	"OMIM:614298"	"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION-4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:12"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:25443.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_25443-OMIM_615043-HP_0000007-GENCC_100004"	"HGNC:25443"	"C19orf12"	"MONDO:0014024"	"hereditary spastic paraplegia 43"	"OMIM:615043"	"?Spastic paraplegia 43, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25443"	"C19orf12"	"OMIM:615043"	"?Spastic paraplegia 43, autosomal recessive	615043"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2021-02-18 13:06:13"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:25443.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_1388-OMIM_141500-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0020756"	"migraine, familial hemiplegic, 1"	"OMIM:141500"	"Migraine, familial hemiplegic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1388"	"CACNA1A"	"OMIM:141500"	"Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:13"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:1388.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1388-OMIM_108500-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0007163"	"episodic ataxia type 2"	"OMIM:108500"	"Episodic ataxia, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1388"	"CACNA1A"	"OMIM:108500"	"EPISODIC ATAXIA TYPE 2 (EA2,108500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:14"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:1388.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_1388-OMIM_183086-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0008457"	"spinocerebellar ataxia type 6"	"OMIM:183086"	"Spinocerebellar ataxia 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1388"	"CACNA1A"	"OMIM:183086"	"Spinocerebellar ataxia 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:14"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:1388.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_24537-OMIM_600795-HP_0000006-GENCC_100002"	"HGNC:24537"	"CHMP2B"	"MONDO:0010936"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"OMIM:600795"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24537"	"CHMP2B"	"OMIM:600795"	"FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:15"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:24537.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25784-OMIM_241080-HP_0000007-GENCC_100002"	"HGNC:25784"	"DCAF17"	"MONDO:0009419"	"Woodhouse-Sakati syndrome"	"OMIM:241080"	"Woodhouse-Sakati syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25784"	"DCAF17"	"OMIM:241080"	"WOODHOUSE-SAKATI SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:15"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:25784.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13586-OMIM_260300-HP_0000007-GENCC_100002"	"HGNC:13586"	"FBXO7"	"MONDO:0009830"	"parkinsonian-pyramidal syndrome"	"OMIM:260300"	"Parkinson disease 15, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13586"	"FBXO7"	"OMIM:260300"	"PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, 260300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:15"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:13586.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4177-OMIM_168600-HP_0000006-GENCC_100002"	"HGNC:4177"	"GBA1"	"MONDO:0008199"	"late-onset Parkinson disease"	"OMIM:168600"	"{Parkinson disease, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4177"	"GBA"	"OMIM:168600"	"{PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, 168600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:16"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:4177.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4193-OMIM_128230-HP_0000006-GENCC_100002"	"HGNC:4193"	"GCH1"	"MONDO:0007495"	"dystonia 5"	"OMIM:128230"	"Dystonia, DOPA-responsive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4193"	"GCH1"	"OMIM:128230"	"DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, 128230"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:16"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:4193.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4193-OMIM_128230-HP_0000007-GENCC_100002"	"HGNC:4193"	"GCH1"	"MONDO:0007495"	"dystonia 5"	"OMIM:128230"	"Dystonia, DOPA-responsive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4193"	"GCH1"	"OMIM:128230"	"DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, 128230"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:16"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:4193.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_4193-OMIM_233910-HP_0000007-GENCC_100002"	"HGNC:4193"	"GCH1"	"MONDO:0100186"	"GTP cyclohydrolase I deficiency with hyperphenylalaninemia"	"OMIM:233910"	"Hyperphenylalaninemia, BH4-deficient, B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4193"	"GCH1"	"OMIM:233910"	"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, 233910"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:16"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:4193.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_4388-OMIM_615073-HP_0000006-GENCC_100002"	"HGNC:4388"	"GNAL"	"MONDO:0014033"	"dystonia 25"	"OMIM:615073"	"Dystonia 25"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4388"	"GNAL"	"OMIM:615073"	"DYSTONIA 25, 615073"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:17"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:4388.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_4670-OMIM_617988-HP_0000007-GENCC_100002"	"HGNC:4670"	"GTPBP2"	"MONDO:0060711"	"Jaberi-Elahi syndrome"	"OMIM:617988"	"Jaberi-Elahi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:4670"	"GTPBP2"	"OMIM:617988"	"JABERI-ELAHI SYNDROME, 617988"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:17"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:4670.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5144-OMIM_224500-HP_0000007-GENCC_100002"	"HGNC:5144"	"HPCA"	"MONDO:0009141"	"torsion dystonia 2"	"OMIM:224500"	"Dystonia 2, torsion, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5144"	"HPCA"	"OMIM:224500"	"DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, 224500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:17"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:5144.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15840-OMIM_617284-HP_0000006-GENCC_100002"	"HGNC:15840"	"KMT2B"	"MONDO:0015004"	"dystonia 28, childhood-onset"	"OMIM:617284"	"Dystonia 28, childhood-onset"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15840"	"KMT2B"	"OMIM:617284"	"DYSTONIA 28, CHILDHOOD-ONSET 617284"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:18"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:15840.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18618-OMIM_607060-HP_0000006-GENCC_100002"	"HGNC:18618"	"LRRK2"	"MONDO:0011764"	"autosomal dominant Parkinson disease 8"	"OMIM:607060"	"{Parkinson disease 8}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18618"	"LRRK2"	"OMIM:607060"	"PARKINSON DISEASE 8, 607060"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:18"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:18618.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6893-OMIM_601104-HP_0000006-GENCC_100002"	"HGNC:6893"	"MAPT"	"MONDO:0010997"	"supranuclear palsy, progressive, 1"	"OMIM:601104"	"Supranuclear palsy, progressive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6893"	"MAPT"	"OMIM:601104"	"SUPRANUCLEAR PALSY, PROGRESSIVE, 601104"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:19"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:6893.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6893-OMIM_168600-HP_0000006-GENCC_100002"	"HGNC:6893"	"MAPT"	"MONDO:0008199"	"late-onset Parkinson disease"	"OMIM:168600"	"{Parkinson disease, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6893"	"MAPT"	"OMIM:168600"	"{PARKINSON DISEASE, SUSCEPTIBILITY TO}, 168600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:19"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:6893.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6893-OMIM_172700-HP_0000006-GENCC_100002"	"HGNC:6893"	"MAPT"	"MONDO:0008243"	"Pick disease"	"OMIM:172700"	"Pick disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6893"	"MAPT"	"OMIM:172700"	"PICK DISEASE, 172700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:19"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:6893.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_6893-OMIM_600274-HP_0000006-GENCC_100002"	"HGNC:6893"	"MAPT"	"MONDO:0010857"	"semantic dementia"	"OMIM:600274"	"Frontotemporal dementia 1, with or without parkinsonism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6893"	"MAPT"	"OMIM:600274"	"DEMENTIA, FRONTOTEMPORAL, WITH OR WITHOUT PARKINSONISM, 600274"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:19"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:6893.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_6893-OMIM_260540-HP_0000007-GENCC_100003"	"HGNC:6893"	"MAPT"	"MONDO:0009839"	"progressive supranuclear palsy-parkinsonism syndrome"	"OMIM:260540"	"Supranuclear palsy, progressive atypical"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6893"	"MAPT"	"OMIM:260540"	"SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, 260540"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-18 13:06:19"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:6893.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_11825-OMIM_610978-HP_0000006-GENCC_100002"	"HGNC:11825"	"NKX2-1"	"MONDO:0012593"	"brain-lung-thyroid syndrome"	"OMIM:610978"	"Choreoathetosis, hypothyroidism, and neonatal respiratory distress"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11825"	"NKX2-1"	"OMIM:610978"	"CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:19"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11825.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11825-OMIM_118700-HP_0000006-GENCC_100002"	"HGNC:11825"	"NKX2-1"	"MONDO:0021011"	"hereditary progressive chorea without dementia"	"OMIM:118700"	"Chorea, hereditary benign"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11825"	"NKX2-1"	"OMIM:118700"	"CHOREA, HEREDITARY BENIGN 118700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:20"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11825.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_8772-OMIM_616922-HP_0000006-GENCC_100002"	"HGNC:8772"	"PDE10A"	"MONDO:0014835"	"striatal degeneration, autosomal dominant 2"	"OMIM:616922"	"Striatal degeneration, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8772"	"PDE10A"	"OMIM:616922"	"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 616922"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:20"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:8772.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8772-OMIM_616921-HP_0000007-GENCC_100002"	"HGNC:8772"	"PDE10A"	"MONDO:0014834"	"dyskinesia, limb and orofacial, infantile-onset"	"OMIM:616921"	"Dyskinesia, limb and orofacial, infantile-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8772"	"PDE10A"	"OMIM:616921"	"DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 616921"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:20"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:8772.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_8800-OMIM_615483-HP_0000006-GENCC_100002"	"HGNC:8800"	"PDGFB"	"MONDO:0014204"	"basal ganglia calcification, idiopathic, 5"	"OMIM:615483"	"Basal ganglia calcification, idiopathic, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8800"	"PDGFB"	"OMIM:615483"	"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 615483"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:21"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:8800.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8804-OMIM_615007-HP_0000006-GENCC_100002"	"HGNC:8804"	"PDGFRB"	"MONDO:0014004"	"basal ganglia calcification, idiopathic, 4"	"OMIM:615007"	"Basal ganglia calcification, idiopathic, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8804"	"PDGFRB"	"OMIM:615007"	"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 615007"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:21"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:8804.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14581-OMIM_605909-HP_0000007-GENCC_100002"	"HGNC:14581"	"PINK1"	"MONDO:0011613"	"autosomal recessive early-onset Parkinson disease 6"	"OMIM:605909"	"Parkinson disease 6, early onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14581"	"PINK1"	"OMIM:605909"	"PARKINSON DISEASE 6, EARLY ONSET, 605909"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:22"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:14581.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9153-OMIM_118800-HP_0000006-GENCC_100002"	"HGNC:9153"	"PNKD"	"MONDO:0007326"	"paroxysmal nonkinesigenic dyskinesia 1"	"OMIM:118800"	"Paroxysmal nonkinesigenic dyskinesia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9153"	"PNKD"	"OMIM:118800"	"PAROXYSMAL NONKINESIGENIC DYSKINESIA, 118800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:22"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:9153.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8607-OMIM_600116-HP_0000007-GENCC_100002"	"HGNC:8607"	"PRKN"	"MONDO:0010820"	"autosomal recessive juvenile Parkinson disease 2"	"OMIM:600116"	"Parkinson disease, juvenile, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8607"	"PRKN"	"OMIM:600116"	"PARKINSON DISEASE, JUVENILE, TYPE 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:23"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:8607.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9438-OMIM_612067-HP_0000007-GENCC_100002"	"HGNC:9438"	"PRKRA"	"MONDO:0012789"	"dystonia 16"	"OMIM:612067"	"Dystonia 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9438"	"PRKRA"	"OMIM:612067"	"DYSTONIA 16, 612067"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:23"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:9438.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9449-OMIM_137440-HP_0000006-GENCC_100002"	"HGNC:9449"	"PRNP"	"MONDO:0007656"	"Gerstmann-Straussler-Scheinker syndrome"	"OMIM:137440"	"Cerebral amyloid angiopathy, PRNP-related"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9449"	"PRNP"	"OMIM:137440"	"GERSTMANN-STRAUSSLER DISEASE 137440"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:24"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:9449.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_9449-OMIM_603218-HP_0000006-GENCC_100002"	"HGNC:9449"	"PRNP"	"MONDO:0011299"	"Huntington disease-like 1"	"OMIM:603218"	"Huntington disease-like 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9449"	"PRNP"	"OMIM:603218"	"HUNTINGTON DISEASE-LIKE 1 603218"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:24"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:9449.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9449-OMIM_123400-HP_0000006-GENCC_100002"	"HGNC:9449"	"PRNP"	"MONDO:0007403"	"inherited Creutzfeldt-Jakob disease"	"OMIM:123400"	"Creutzfeldt-Jakob disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9449"	"PRNP"	"OMIM:123400"	"CREUTZFELDT-JAKOB DISEASE 123400"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:25"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:9449.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_30500-OMIM_605751-HP_0000006-GENCC_100002"	"HGNC:30500"	"PRRT2"	"MONDO:0011593"	"seizures, benign familial infantile, 2"	"OMIM:605751"	"Seizures, benign familial infantile, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30500"	"PRRT2"	"OMIM:605751"	"SEIZURES, BENIGN FAMILIAL INFANTILE, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:25"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:30500.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30500-OMIM_128200-HP_0000006-GENCC_100002"	"HGNC:30500"	"PRRT2"	"MONDO:0007494"	"episodic kinesigenic dyskinesia 1"	"OMIM:128200"	"Episodic kinesigenic dyskinesia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30500"	"PRRT2"	"OMIM:128200"	"Episodic kinesigenic dyskinesia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:26"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:30500.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_30500-OMIM_602066-HP_0000006-GENCC_100002"	"HGNC:30500"	"PRRT2"	"MONDO:0011178"	"infantile convulsions and choreoathetosis"	"OMIM:602066"	"Convulsions, familial infantile, with paroxysmal choreoathetosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30500"	"PRRT2"	"OMIM:602066"	"CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:26"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:30500.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_16499-OMIM_311510-HP_0001417-GENCC_100002"	"HGNC:16499"	"RAB39B"	"MONDO:0010709"	"early-onset parkinsonism-intellectual disability syndrome"	"OMIM:311510"	"Waisman syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16499"	"RAB39B"	"OMIM:311510"	"WAISMAN SYNDROME 311510"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:26"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:16499.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_21698-OMIM_212840-HP_0000007-GENCC_100002"	"HGNC:21698"	"RNF216"	"MONDO:0008935"	"cerebellar ataxia-hypogonadism syndrome"	"OMIM:212840"	"Cerebellar ataxia and hypogonadotropic hypogonadism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21698"	"RNF216"	"OMIM:212840"	"CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, 212840"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:27"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:21698.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10808-OMIM_159900-HP_0000006-GENCC_100002"	"HGNC:10808"	"SGCE"	"MONDO:0008044"	"myoclonic dystonia 11"	"OMIM:159900"	"Dystonia-11, myoclonic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10808"	"SGCE"	"OMIM:159900"	"DYSTONIA-11, MYOCLONIC, 159900"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:27"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:10808.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10947-OMIM_213600-HP_0000006-GENCC_100002"	"HGNC:10947"	"SLC20A2"	"MONDO:0024538"	"basal ganglia calcification, idiopathic, 1"	"OMIM:213600"	"Basal ganglia calcification, idiopathic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10947"	"SLC20A2"	"OMIM:213600"	"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 213600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:28"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:10947.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11005-OMIM_601042-HP_0000006-GENCC_100002"	"HGNC:11005"	"SLC2A1"	"MONDO:0010983"	"dystonia 9"	"OMIM:601042"	"Dystonia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11005"	"SLC2A1"	"OMIM:601042"	"DYSTONIA 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:28"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11005.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11005-OMIM_612126-HP_0000006-GENCC_100002"	"HGNC:11005"	"SLC2A1"	"MONDO:0012805"	"childhood onset GLUT1 deficiency syndrome 2"	"OMIM:612126"	"GLUT1 deficiency syndrome 2, childhood onset"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11005"	"SLC2A1"	"OMIM:612126"	"GLUT1 deficiency syndrome 2, childhood onset"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:28"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11005.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_25355-OMIM_613280-HP_0000007-GENCC_100002"	"HGNC:25355"	"SLC30A10"	"MONDO:0013208"	"cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome"	"OMIM:613280"	"Hypermanganesemia with dystonia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25355"	"SLC30A10"	"OMIM:613280"	"Hypermanganesemia with dystonia 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:29"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:25355.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11138-OMIM_127750-HP_0000006-GENCC_100002"	"HGNC:11138"	"SNCA"	"MONDO:0007488"	"Lewy body dementia"	"OMIM:127750"	"Dementia, Lewy body"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11138"	"SNCA"	"OMIM:127750"	"DEMENTIA, LEWY BODY, 127750"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:29"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11138.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11138-OMIM_605543-HP_0000006-GENCC_100002"	"HGNC:11138"	"SNCA"	"MONDO:0011562"	"autosomal dominant Parkinson disease 4"	"OMIM:605543"	"Parkinson disease 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11138"	"SNCA"	"OMIM:605543"	"PARKINSON DISEASE 4, 605543"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:29"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11138.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11138-OMIM_168601-HP_0000006-GENCC_100002"	"HGNC:11138"	"SNCA"	"MONDO:0008200"	"autosomal dominant Parkinson disease 1"	"OMIM:168601"	"Parkinson disease 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11138"	"SNCA"	"OMIM:168601"	"PARKINSON DISEASE 1, 168601"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:30"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11138.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_11226-OMIM_604360-HP_0000007-GENCC_100002"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"OMIM:604360"	"Spastic paraplegia 11, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11226"	"SPG11"	"OMIM:604360"	"Spastic paraplegia 11, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:30"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11226.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11226-OMIM_616668-HP_0000007-GENCC_100002"	"HGNC:11226"	"SPG11"	"MONDO:0014726"	"Charcot-Marie-Tooth disease axonal type 2X"	"OMIM:616668"	"Charcot-Marie-Tooth disease, axonal, type 2X"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11226"	"SPG11"	"OMIM:616668"	"Charcot-Marie-Tooth disease, axonal, type 2X"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:30"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11226.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11226-OMIM_602099-HP_0000007-GENCC_100002"	"HGNC:11226"	"SPG11"	"MONDO:0011196"	"amyotrophic lateral sclerosis type 5"	"OMIM:602099"	"Amyotrophic lateral sclerosis 5, juvenile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11226"	"SPG11"	"OMIM:602099"	"AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE   602099"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:37"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:11226.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11257-OMIM_612716-HP_0000006-GENCC_100003"	"HGNC:11257"	"SPR"	"MONDO:0012994"	"dopa-responsive dystonia due to sepiapterin reductase deficiency"	"OMIM:612716"	"Dystonia, dopa-responsive, due to sepiapterin reductase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11257"	"SPR"	"OMIM:612716"	"DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, 612716"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2021-02-18 13:06:31"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11257.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11257-OMIM_612716-HP_0000007-GENCC_100002"	"HGNC:11257"	"SPR"	"MONDO:0012994"	"dopa-responsive dystonia due to sepiapterin reductase deficiency"	"OMIM:612716"	"Dystonia, dopa-responsive, due to sepiapterin reductase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11257"	"SPR"	"OMIM:612716"	"DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:31"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11257.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_20856-OMIM_602629-HP_0000006-GENCC_100002"	"HGNC:20856"	"THAP1"	"MONDO:0011264"	"torsion dystonia 6"	"OMIM:602629"	"Dystonia 6, torsion"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20856"	"THAP1"	"OMIM:602629"	"DYSTONIA 6, TORSION, 602629"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:31"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:20856.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11817-OMIM_304700-HP_0001417-GENCC_100002"	"HGNC:11817"	"TIMM8A"	"MONDO:0010578"	"deafness dystonia syndrome"	"OMIM:304700"	"Mohr-Tranebjaerg syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11817"	"TIMM8A"	"OMIM:304700"	"MOHR-TRANEBJAERG SYNDROME, 304700"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:31"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:11817.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3098-OMIM_128100-HP_0000006-GENCC_100002"	"HGNC:3098"	"TOR1A"	"MONDO:0007492"	"early-onset generalized limb-onset dystonia"	"OMIM:128100"	"Dystonia-1, torsion"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3098"	"TOR1A"	"OMIM:128100"	"DYSTONIA-1, TORSION, OMIM:128100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:31"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:3098.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20774-OMIM_128101-HP_0000006-GENCC_100002"	"HGNC:20774"	"TUBB4A"	"MONDO:0007493"	"torsion dystonia 4"	"OMIM:128101"	"Dystonia 4, torsion, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20774"	"TUBB4A"	"OMIM:128101"	"DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, 128101"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:32"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:20774.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1908-OMIM_200150-HP_0000007-GENCC_100002"	"HGNC:1908"	"VPS13A"	"MONDO:0008695"	"chorea-acanthocytosis"	"OMIM:200150"	"Choreoacanthocytosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1908"	"VPS13A"	"OMIM:200150"	"CHOREOACANTHOCYTOSIS 200150"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:32"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:1908.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28912-OMIM_300894-HP_0001417-GENCC_100002"	"HGNC:28912"	"WDR45"	"MONDO:0010476"	"neurodegeneration with brain iron accumulation 5"	"OMIM:300894"	"Neurodegeneration with brain iron accumulation 5"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28912"	"WDR45"	"OMIM:300894"	"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 300894"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:32"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:28912.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12827-OMIM_616413-HP_0000006-GENCC_100002"	"HGNC:12827"	"XPR1"	"MONDO:0014628"	"basal ganglia calcification, idiopathic, 6"	"OMIM:616413"	"Basal ganglia calcification, idiopathic, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12827"	"XPR1"	"OMIM:616413"	"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 616413"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-02-18 13:06:33"	"https://panelapp.genomicsengland.co.uk/panels/540"	""	""	""	"000104.pa540.v1.20.hgnc:12827.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_644-OMIM_312300-HP_0001417-GENCC_100002"	"HGNC:644"	"AR"	"MONDO:0010720"	"partial androgen insensitivity syndrome"	"OMIM:312300"	"Androgen insensitivity, partial, with or without breast cancer"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:644"	"AR"	"OMIM:312300"	"SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:33"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:644.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_735-OMIM_159950-HP_0000007-GENCC_100002"	"HGNC:735"	"ASAH1"	"MONDO:0008045"	"spinal muscular atrophy-progressive myoclonic epilepsy syndrome"	"OMIM:159950"	"Spinal muscular atrophy with progressive myoclonic epilepsy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:735"	"ASAH1"	"OMIM:159950"	"SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, 159950"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:33"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:735.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17208-OMIM_615290-HP_0000006-GENCC_100002"	"HGNC:17208"	"BICD2"	"MONDO:0014121"	"autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures"	"OMIM:615290"	"Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17208"	"BICD2"	"OMIM:615290"	"Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:34"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:17208.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15559-OMIM_615048-HP_0000006-GENCC_100002"	"HGNC:15559"	"CHCHD10"	"MONDO:0014025"	"lower motor neuron syndrome with late-adult onset"	"OMIM:615048"	"Spinal muscular atrophy, Jokela type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15559"	"CHCHD10"	"OMIM:615048"	"SPINAL MUSCULAR ATROPHY, JOKELA TYPE   615048"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:34"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:15559.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2961-OMIM_158600-HP_0000006-GENCC_100002"	"HGNC:2961"	"DYNC1H1"	"MONDO:0008026"	"autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures"	"OMIM:158600"	"Spinal muscular atrophy, lower extremity-predominant 1, AD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2961"	"DYNC1H1"	"OMIM:158600"	"Spinal muscular atrophy, lower extremity-predominant 1, AD"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:34"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:2961.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17944-OMIM_614678-HP_0000007-GENCC_100002"	"HGNC:17944"	"EXOSC3"	"MONDO:0013853"	"pontocerebellar hypoplasia type 1B"	"OMIM:614678"	"Pontocerebellar hypoplasia, type 1B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17944"	"EXOSC3"	"OMIM:614678"	"PONTOCEREBELLAR HYPOPLASIA, TYPE 1B   614678"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:35"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:17944.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5542-OMIM_604320-HP_0000007-GENCC_100002"	"HGNC:5542"	"IGHMBP2"	"MONDO:0011436"	"autosomal recessive distal spinal muscular atrophy 1"	"OMIM:604320"	"Neuronopathy, distal hereditary motor, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5542"	"IGHMBP2"	"OMIM:604320"	"Neuronopathy, distal hereditary motor, type VI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:35"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:5542.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30224-OMIM_614707-HP_0000007-GENCC_100002"	"HGNC:30224"	"SLC52A2"	"MONDO:0013867"	"Brown-Vialetto-van Laere syndrome 2"	"OMIM:614707"	"Brown-Vialetto-Van Laere syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30224"	"SLC52A2"	"OMIM:614707"	"BROWN-VIALETTO-VAN LAERE SYNDROME 2, 614707"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:35"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:30224.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_16187-OMIM_211530-HP_0000007-GENCC_100002"	"HGNC:16187"	"SLC52A3"	"MONDO:0024537"	"Brown-Vialetto-van Laere syndrome 1"	"OMIM:211530"	"Brown-Vialetto-Van Laere syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:16187"	"SLC52A3"	"OMIM:211530"	"BROWN-VIALETTO-VAN LAERE SYNDROME 1, 211530"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:35"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:16187.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11117-OMIM_253300-HP_0000007-GENCC_100002"	"HGNC:11117"	"SMN1"	"MONDO:0009669"	"spinal muscular atrophy, type 1"	"OMIM:253300"	"Spinal muscular atrophy-1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11117"	"SMN1"	"OMIM:253300"	"SPINAL MUSCULAR ATROPHY 1, 253300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:36"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:11117.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11117-OMIM_253550-HP_0000007-GENCC_100002"	"HGNC:11117"	"SMN1"	"MONDO:0009673"	"spinal muscular atrophy, type II"	"OMIM:253550"	"Spinal muscular atrophy-2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11117"	"SMN1"	"OMIM:253550"	"SPINAL MUSCULAR ATROPHY 2, 253550"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:36"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:11117.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11117-OMIM_253400-HP_0000007-GENCC_100002"	"HGNC:11117"	"SMN1"	"MONDO:0009672"	"spinal muscular atrophy, type III"	"OMIM:253400"	"Spinal muscular atrophy-3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11117"	"SMN1"	"OMIM:253400"	"SPINAL MUSCULAR ATROPHY 3, 253400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:37"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:11117.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_11117-OMIM_271150-HP_0000007-GENCC_100002"	"HGNC:11117"	"SMN1"	"MONDO:0010056"	"spinal muscular atrophy, type IV"	"OMIM:271150"	"Spinal muscular atrophy-4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11117"	"SMN1"	"OMIM:271150"	"SPINAL MUSCULAR ATROPHY 4, 271150"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:37"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:11117.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_12310-OMIM_616866-HP_0000007-GENCC_100002"	"HGNC:12310"	"TRIP4"	"MONDO:0014806"	"spinal muscular atrophy with congenital bone fractures 1"	"OMIM:616866"	"Spinal muscular atrophy with congenital bone fractures 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12310"	"TRIP4"	"OMIM:616866"	"SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, OMIM:616866"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:38"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:12310.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12310-MONDO_0000209-HP_0000007-GENCC_100002"	"HGNC:12310"	"TRIP4"	"MONDO:0000209"	"prenatal-onset spinal muscular atrophy with congenital bone fractures"	"MONDO:0000209"	"prenatal-onset spinal muscular atrophy with congenital bone fractures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12310"	"TRIP4"	"MONDO:0000209"	"PRENATAL-ONSET SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES, MONDO:0000209"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:38"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:12310.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_18083-OMIM_113500-HP_0000006-GENCC_100002"	"HGNC:18083"	"TRPV4"	"MONDO:0007232"	"autosomal dominant brachyolmia"	"OMIM:113500"	"Brachyolmia type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18083"	"TRPV4"	"OMIM:113500"	"BRACHYOLMIA TYPE 3, 113500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:39"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:18083.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12469-OMIM_301830-HP_0001417-GENCC_100002"	"HGNC:12469"	"UBA1"	"MONDO:0010532"	"infantile-onset X-linked spinal muscular atrophy"	"OMIM:301830"	"Spinal muscular atrophy, X-linked 2, infantile"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12469"	"UBA1"	"OMIM:301830"	"SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, 301830"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:39"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:12469.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12718-OMIM_607596-HP_0000007-GENCC_100002"	"HGNC:12718"	"VRK1"	"MONDO:0011866"	"pontocerebellar hypoplasia type 1A"	"OMIM:607596"	"Pontocerebellar hypoplasia type 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12718"	"VRK1"	"OMIM:607596"	"PONTOCEREBELLAR HYPOPLASIA TYPE 1A   607596"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2021-01-04 13:06:39"	"https://panelapp.genomicsengland.co.uk/panels/79"	""	""	""	"000104.pa79.v1.35.hgnc:12718.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3226-OMIM_304110-HP_0001417-GENCC_100002"	"HGNC:3226"	"EFNB1"	"MONDO:0010570"	"craniofrontonasal syndrome"	"OMIM:304110"	"Craniofrontonasal dysplasia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3226"	"EFNB1"	"OMIM:304110"	"CRANIOFRONTONASAL DYSPLASIA"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:39"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3226.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3444-OMIM_600775-HP_0000006-GENCC_100002"	"HGNC:3444"	"ERF"	"MONDO:0010929"	"craniosynostosis 4"	"OMIM:600775"	"Craniosynostosis 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3444"	"ERF"	"OMIM:600775"	"CRANIOSYNOSTOSIS 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:39"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3444.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3688-OMIM_123150-HP_0000006-GENCC_100002"	"HGNC:3688"	"FGFR1"	"MONDO:0007400"	"Jackson-Weiss syndrome"	"OMIM:123150"	"Jackson-Weiss syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3688"	"FGFR1"	"OMIM:123150"	"JACKSON-WEISS SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:39"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3688.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3688-OMIM_166250-HP_0000006-GENCC_100002"	"HGNC:3688"	"FGFR1"	"MONDO:0008150"	"osteoglophonic dwarfism"	"OMIM:166250"	"Osteoglophonic dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3688"	"FGFR1"	"OMIM:166250"	"OSTEOGLOPHONIC DYSPLASIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3688.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3688-OMIM_101600-HP_0000006-GENCC_100002"	"HGNC:3688"	"FGFR1"	"MONDO:0007043"	"Pfeiffer syndrome"	"OMIM:101600"	"Pfeiffer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3688"	"FGFR1"	"OMIM:101600"	"PFEIFFER SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3688.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_3689-OMIM_207410-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0020667"	"Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"	"OMIM:207410"	"Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3689"	"FGFR2"	"OMIM:207410"	"ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3689.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3689-OMIM_101200-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007041"	"Apert syndrome"	"OMIM:101200"	"Apert syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3689"	"FGFR2"	"OMIM:101200"	"APERT SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3689.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3689-OMIM_123790-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007412"	"Beare-Stevenson cutis gyrata syndrome"	"OMIM:123790"	"Beare-Stevenson cutis gyrata syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3689"	"FGFR2"	"OMIM:123790"	"BEARE-STEVENSON CUTIS GYRATA SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3689.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_3689-OMIM_101600-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007043"	"Pfeiffer syndrome"	"OMIM:101600"	"Pfeiffer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3689"	"FGFR2"	"OMIM:101600"	"CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3689.m1.p5"	"2021-03-31"
"GENCC_000104-HGNC_3689-OMIM_123500-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007405"	"Crouzon syndrome"	"OMIM:123500"	"Crouzon syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3689"	"FGFR2"	"OMIM:123500"	"CROUZON SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3689.m1.p6"	"2021-03-31"
"GENCC_000104-HGNC_3689-OMIM_123150-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007400"	"Jackson-Weiss syndrome"	"OMIM:123150"	"Jackson-Weiss syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3689"	"FGFR2"	"OMIM:123150"	"JACKSON-WEISS SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3689.m1.p7"	"2021-03-31"
"GENCC_000104-HGNC_3689-OMIM_101400-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"OMIM:101400"	"Saethre-Chotzen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3689"	"FGFR2"	"OMIM:101400"	"SAETHRE-CHOTZEN SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:40"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3689.m1.p8"	"2021-03-31"
"GENCC_000104-HGNC_3689-OMIM_609579-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0012307"	"familial scaphocephaly syndrome, McGillivray type"	"OMIM:609579"	"?Scaphocephaly, maxillary retrusion, and impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3689"	"FGFR2"	"OMIM:609579"	"SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:41"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3689.m1.p9"	"2021-03-31"
"GENCC_000104-HGNC_3690-OMIM_602849-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0011274"	"Muenke syndrome"	"OMIM:602849"	"Muenke syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3690"	"FGFR3"	"OMIM:602849"	"MUENKE SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:41"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3690.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3690-OMIM_612247-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0012833"	"Crouzon syndrome-acanthosis nigricans syndrome"	"OMIM:612247"	"Crouzon syndrome with acanthosis nigricans"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3690"	"FGFR3"	"OMIM:612247"	"CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:41"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3690.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_3690-OMIM_187600-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0008546"	"thanatophoric dysplasia type 1"	"OMIM:187600"	"Thanatophoric dysplasia, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3690"	"FGFR3"	"OMIM:187600"	"THANATOPHORIC DYSPLASIA, TYPE I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:41"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3690.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_3690-OMIM_187601-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0008547"	"thanatophoric dysplasia type 2"	"OMIM:187601"	"Thanatophoric dysplasia, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3690"	"FGFR3"	"OMIM:187601"	"THANATOPHORIC DYSPLASIA, TYPE II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:41"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:3690.m1.p4"	"2021-03-31"
"GENCC_000104-HGNC_11623-OMIM_615314-HP_0000006-GENCC_100002"	"HGNC:11623"	"TCF12"	"MONDO:0014128"	"TCF12-related craniosynostosis"	"OMIM:615314"	"Craniosynostosis 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11623"	"TCF12"	"OMIM:615314"	"CRANIOSYNOSTOSIS 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:41"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:11623.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12428-OMIM_123100-HP_0000006-GENCC_100002"	"HGNC:12428"	"TWIST1"	"MONDO:0007399"	"TWIST1-related craniosynostosis"	"OMIM:123100"	"Craniosynostosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12428"	"TWIST1"	"OMIM:123100"	"CRANIOSYNOSTOSIS 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:41"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:12428.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12428-OMIM_101400-HP_0000006-GENCC_100002"	"HGNC:12428"	"TWIST1"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"OMIM:101400"	"Saethre-Chotzen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12428"	"TWIST1"	"OMIM:101400"	"SAETHRE-CHOTZEN SYNDROME WITH OR WITHOUT EYELID ANOMALIES"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-13 13:06:41"	"https://panelapp.genomicsengland.co.uk/panels/507"	""	""	""	"000104.pa507.v1.3.hgnc:12428.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11647-OMIM_259700-HP_0000007-GENCC_100002"	"HGNC:11647"	"TCIRG1"	"MONDO:0009815"	"autosomal recessive osteopetrosis 1"	"OMIM:259700"	"Osteopetrosis, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11647"	"TCIRG1"	"OMIM:259700"	"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:42"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:11647.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11766-OMIM_131300-HP_0000006-GENCC_100002"	"HGNC:11766"	"TGFB1"	"MONDO:0007542"	"Camurati-Engelmann disease"	"OMIM:131300"	"Camurati-Engelmann disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11766"	"TGFB1"	"OMIM:131300"	"CAMURATI-ENGELMANN DISEASE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:42"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:11766.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11908-OMIM_612301-HP_0000007-GENCC_100002"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0012859"	"autosomal recessive osteopetrosis 7"	"OMIM:612301"	"Osteopetrosis, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11908"	"TNFRSF11A"	"OMIM:612301"	"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:42"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:11908.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11926-OMIM_259710-HP_0000007-GENCC_100002"	"HGNC:11926"	"TNFSF11"	"MONDO:0009816"	"autosomal recessive osteopetrosis 2"	"OMIM:259710"	"Osteopetrosis, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11926"	"TNFSF11"	"OMIM:259710"	"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:43"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:11926.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1373-OMIM_259730-HP_0000007-GENCC_100002"	"HGNC:1373"	"CA2"	"MONDO:0009818"	"autosomal recessive osteopetrosis 3"	"OMIM:259730"	"Osteopetrosis, autosomal recessive 3, with renal tubular acidosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1373"	"CA2"	"OMIM:259730"	"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:43"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:1373.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13771-OMIM_269500-HP_0000007-GENCC_100002"	"HGNC:13771"	"SOST"	"MONDO:0010016"	"sclerosteosis 1"	"OMIM:269500"	"Sclerosteosis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13771"	"SOST"	"OMIM:269500"	"SCLEROSTEOSIS 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:43"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:13771.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_14974-OMIM_615085-HP_0000007-GENCC_100002"	"HGNC:14974"	"SNX10"	"MONDO:0014040"	"autosomal recessive osteopetrosis 8"	"OMIM:615085"	"Osteopetrosis, autosomal recessive 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:14974"	"SNX10"	"OMIM:615085"	"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:44"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:14974.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15492-OMIM_118600-HP_0000006-GENCC_100002"	"HGNC:15492"	"ANKH"	"MONDO:0007319"	"chondrocalcinosis 2"	"OMIM:118600"	"Chondrocalcinosis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15492"	"ANKH"	"OMIM:118600"	"CHONDROCALCINOSIS 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:44"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:15492.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15492-OMIM_123000-HP_0000006-GENCC_100002"	"HGNC:15492"	"ANKH"	"MONDO:0007397"	"craniometaphyseal dysplasia, autosomal dominant"	"OMIM:123000"	"Craniometaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15492"	"ANKH"	"OMIM:123000"	"CRANIOMETAPHYSEAL DYSPLASIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:44"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:15492.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2025-OMIM_166600-HP_0000006-GENCC_100002"	"HGNC:2025"	"CLCN7"	"MONDO:0008156"	"autosomal dominant osteopetrosis 2"	"OMIM:166600"	"Osteopetrosis, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2025"	"CLCN7"	"OMIM:166600"	"OSTEOPETROSIS, AUTOSOMAL DOMINANT 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:45"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:2025.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2025-OMIM_611490-HP_0000007-GENCC_100002"	"HGNC:2025"	"CLCN7"	"MONDO:0012676"	"autosomal recessive osteopetrosis 4"	"OMIM:611490"	"Osteopetrosis, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2025"	"CLCN7"	"OMIM:611490"	"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:45"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:2025.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_23151-OMIM_612840-HP_0000007-GENCC_100002"	"HGNC:23151"	"FERMT3"	"MONDO:0013016"	"leukocyte adhesion deficiency 3"	"OMIM:612840"	"Leukocyte adhesion deficiency, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23151"	"FERMT3"	"OMIM:612840"	"LEUKOCYTE ADHESION DEFICIENCY, TYPE III"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:45"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:23151.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26837-OMIM_300373-HP_0001417-GENCC_100002"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"OMIM:300373"	"Osteopathia striata with cranial sclerosis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26837"	"AMER1"	"OMIM:300373"	"OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:45"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:26837.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_28887-OMIM_166700-HP_0000006-GENCC_100002"	"HGNC:28887"	"LEMD3"	"MONDO:0008157"	"Buschke-Ollendorff syndrome"	"OMIM:166700"	"Osteopoikilosis with or without melorheostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:28887"	"LEMD3"	"OMIM:166700"	"BUSCHKE-OLLENDORFF SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:45"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:28887.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_6697-OMIM_144750-HP_0000006-GENCC_100002"	"HGNC:6697"	"LRP5"	"MONDO:0007764"	"autosomal dominant osteosclerosis, Worth type"	"OMIM:144750"	"Endosteal hyperostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6697"	"LRP5"	"OMIM:144750"	"HYPEROSTOSIS, ENDOSTEAL"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:45"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:6697.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_9608-OMIM_215045-HP_0000007-GENCC_100002"	"HGNC:9608"	"PTH1R"	"MONDO:0008970"	"chondrodysplasia Blomstrand type"	"OMIM:215045"	"Chondrodysplasia, Blomstrand type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9608"	"PTH1R"	"OMIM:215045"	"CHONDRODYSPLASIA, BLOMSTRAND TYPE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:45"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:9608.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9879-MONDO_0017198-HP_0000007-GENCC_100002"	"HGNC:9879"	"RASGRP2"	"MONDO:0017198"	"osteopetrosis"	"MONDO:0017198"	"osteopetrosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9879"	"RASGRP2"	"MONDO:0017198"	"osteopetrosis (disease) "	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-09-21 13:06:46"	"https://panelapp.genomicsengland.co.uk/panels/943"	""	""	""	"000104.pa943.v1.2.hgnc:9879.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_5154-OMIM_259100-HP_0000007-GENCC_100002"	"HGNC:5154"	"HPGD"	"MONDO:0024546"	"hypertrophic osteoarthropathy, primary, autosomal recessive, 1"	"OMIM:259100"	"Cranioosteoarthropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:5154"	"HPGD"	"OMIM:259100"	"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-11-11 13:06:46"	"https://panelapp.genomicsengland.co.uk/panels/557"	""	""	""	"000104.pa557.v1.6.hgnc:5154.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10955-OMIM_614441-HP_0000007-GENCC_100002"	"HGNC:10955"	"SLCO2A1"	"MONDO:0013756"	"hypertrophic osteoarthropathy, primary, autosomal recessive, 2"	"OMIM:614441"	"PHOAR2-enteropathy syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10955"	"SLCO2A1"	"OMIM:614441"	"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-11-11 13:06:46"	"https://panelapp.genomicsengland.co.uk/panels/557"	""	""	""	"000104.pa557.v1.6.hgnc:10955.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_811-OMIM_601003-HP_0000007-GENCC_100002"	"HGNC:811"	"ATP2A1"	"MONDO:0010977"	"Brody myopathy"	"OMIM:601003"	"Brody myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:811"	"ATP2A1"	"OMIM:601003"	"BRODY MYOPATHY"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:47"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:811.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1397-OMIM_170400-HP_0000006-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0042979"	"hypokalemic periodic paralysis, type 1"	"OMIM:170400"	"Hypokalemic periodic paralysis, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1397"	"CACNA1S"	"OMIM:170400"	"HYPOKALAEMIC PERIODIC PARALYSIS, TYPE I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:47"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:1397.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1397-MONDO_0019952-HP_0000006-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1397"	"CACNA1S"	"MONDO:0019952"	"CONGENITAL MYOPATHY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:47"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:1397.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_1397-MONDO_0019952-HP_0000007-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1397"	"CACNA1S"	"MONDO:0019952"	"CONGENITAL MYOPATHY"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:47"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:1397.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2019-OMIM_160800-HP_0000006-GENCC_100002"	"HGNC:2019"	"CLCN1"	"MONDO:0008055"	"myotonia congenita, autosomal dominant"	"OMIM:160800"	"Myotonia levior"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2019"	"CLCN1"	"OMIM:160800"	"MYOTONIA CONGENITA, DOMINANT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:48"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:2019.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2019-OMIM_255700-HP_0000007-GENCC_100002"	"HGNC:2019"	"CLCN1"	"MONDO:0009715"	"myotonia congenita, autosomal recessive"	"OMIM:255700"	"Myotonia congenita, recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2019"	"CLCN1"	"OMIM:255700"	"MYOTONIA CONGENITA, RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:48"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:2019.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_6218-OMIM_160120-HP_0000006-GENCC_100002"	"HGNC:6218"	"KCNA1"	"MONDO:0008047"	"episodic ataxia type 1"	"OMIM:160120"	"Episodic ataxia/myokymia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6218"	"KCNA1"	"OMIM:160120"	"EPISODIC ATAXIA TYPE 1/MYOKYMIA SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:49"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:6218.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6263-OMIM_170390-HP_0000006-GENCC_100002"	"HGNC:6263"	"KCNJ2"	"MONDO:0008222"	"Andersen-Tawil syndrome"	"OMIM:170390"	"Andersen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6263"	"KCNJ2"	"OMIM:170390"	"ANDERSEN SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:49"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:6263.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10483-OMIM_117000-HP_0000006-GENCC_100002"	"HGNC:10483"	"RYR1"	"MONDO:0007294"	"central core myopathy"	"OMIM:117000"	"Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10483"	"RYR1"	"OMIM:117000"	"CENTRAL CORE DISEASE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:50"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:10483.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10483-OMIM_145600-HP_0000006-GENCC_100002"	"HGNC:10483"	"RYR1"	"MONDO:0007783"	"malignant hyperthermia, susceptibility to, 1"	"OMIM:145600"	"{Malignant hyperthermia susceptibility 1}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10483"	"RYR1"	"OMIM:145600"	"MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:50"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:10483.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_10483-OMIM_117000-HP_0000007-GENCC_100002"	"HGNC:10483"	"RYR1"	"MONDO:0007294"	"central core myopathy"	"OMIM:117000"	"Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10483"	"RYR1"	"OMIM:117000"	"CENTRAL CORE DISEASE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:50"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:10483.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_10483-OMIM_255320-HP_0000007-GENCC_100002"	"HGNC:10483"	"RYR1"	"MONDO:0009712"	"congenital multicore myopathy with external ophthalmoplegia"	"OMIM:255320"	"Congenital myopathy 1B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10483"	"RYR1"	"OMIM:255320"	"MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:50"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:10483.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_10591-OMIM_613345-HP_0000006-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0013234"	"hypokalemic periodic paralysis, type 2"	"OMIM:613345"	"Hypokalemic periodic paralysis, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10591"	"SCN4A"	"OMIM:613345"	"HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:51"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:10591.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10591-OMIM_170500-HP_0000006-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0008224"	"hyperkalemic periodic paralysis"	"OMIM:170500"	"Hyperkalemic periodic paralysis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10591"	"SCN4A"	"OMIM:170500"	"HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:51"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:10591.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_10591-OMIM_168300-HP_0000006-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0008195"	"paramyotonia congenita of Von Eulenburg"	"OMIM:168300"	"Paramyotonia congenita"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10591"	"SCN4A"	"OMIM:168300"	"PARAMYOTONIA CONGENITA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:51"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:10591.m1.p3"	"2021-03-31"
"GENCC_000104-HGNC_10591-MONDO_0019952-HP_0000007-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10591"	"SCN4A"	"MONDO:0019952"	"CONGENITAL MYOPATHY"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-12-24 13:06:51"	"https://panelapp.genomicsengland.co.uk/panels/542"	""	""	""	"000104.pa542.v1.7.hgnc:10591.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_19349-OMIM_135700-HP_0000006-GENCC_100002"	"HGNC:19349"	"KIF21A"	"MONDO:0021083"	"congenital fibrosis of extraocular muscles type 1"	"OMIM:135700"	"Fibrosis of extraocular muscles, congenital, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19349"	"KIF21A"	"OMIM:135700"	"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B 135700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:06:51"	"https://panelapp.genomicsengland.co.uk/panels/512"	""	""	""	"000104.pa512.v1.4.hgnc:19349.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_691-OMIM_602078-HP_0000007-GENCC_100002"	"HGNC:691"	"PHOX2A"	"MONDO:0011181"	"fibrosis of extraocular muscles, congenital, 2"	"OMIM:602078"	"Fibrosis of extraocular muscles, congenital, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:691"	"PHOX2A"	"OMIM:602078"	"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 602078"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:06:52"	"https://panelapp.genomicsengland.co.uk/panels/512"	""	""	""	"000104.pa512.v1.4.hgnc:691.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20772-OMIM_600638-HP_0000006-GENCC_100002"	"HGNC:20772"	"TUBB3"	"MONDO:0010912"	"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"	"OMIM:600638"	"Fibrosis of extraocular muscles, congenital, 3A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20772"	"TUBB3"	"OMIM:600638"	"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A 600638"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:06:52"	"https://panelapp.genomicsengland.co.uk/panels/512"	""	""	""	"000104.pa512.v1.4.hgnc:20772.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18603-OMIM_616219-HP_0000007-GENCC_100003"	"HGNC:18603"	"COL25A1"	"MONDO:0014538"	"fibrosis of extraocular muscles, congenital, 5"	"OMIM:616219"	"Fibrosis of extraocular muscles, congenital, 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18603"	"COL25A1"	"OMIM:616219"	"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:06:52"	"https://panelapp.genomicsengland.co.uk/panels/512"	""	""	""	"000104.pa512.v1.4.hgnc:18603.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2799-MONDO_0007614-HP_0000005-GENCC_100004"	"HGNC:2799"	"GRHL2"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2799"	"GRHL2"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"HP:0000005"	"Unknown inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-03-04 13:06:53"	"https://panelapp.genomicsengland.co.uk/panels/512"	""	""	""	"000104.pa512.v1.4.hgnc:2799.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_30829-MONDO_0007614-HP_0000006-GENCC_100004"	"HGNC:30829"	"TUBB2B"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:30829"	"TUBB2B"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-03-04 13:06:53"	"https://panelapp.genomicsengland.co.uk/panels/512"	""	""	""	"000104.pa512.v1.4.hgnc:30829.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3800-MONDO_0019172-HP_0000006-GENCC_100002"	"HGNC:3800"	"FOXC1"	"MONDO:0019172"	"aniridia"	"MONDO:0019172"	"aniridia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3800"	"FOXC1"	"MONDO:0019172"	"Aniridia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:53"	"https://panelapp.genomicsengland.co.uk/panels/510"	""	"19279310, 25691405, 27124303, 32720677"	""	"000104.pa510.v2.6.hgnc:3800.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6180-OMIM_206700-HP_0000006-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"OMIM:206700"	"Gillespie syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6180"	"ITPR1"	"OMIM:206700"	"GILLESPIE SYNDROME 206700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:53"	"https://panelapp.genomicsengland.co.uk/panels/510"	""	"27108797, 27108798"	""	"000104.pa510.v2.6.hgnc:6180.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6180-OMIM_206700-HP_0000007-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"OMIM:206700"	"Gillespie syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6180"	"ITPR1"	"OMIM:206700"	"GILLESPIE SYNDROME 206700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:53"	"https://panelapp.genomicsengland.co.uk/panels/510"	""	"27108797, 27108798"	""	"000104.pa510.v2.6.hgnc:6180.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_8620-OMIM_106210-HP_0000006-GENCC_100002"	"HGNC:8620"	"PAX6"	"MONDO:0024507"	"aniridia 1"	"OMIM:106210"	"Aniridia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8620"	"PAX6"	"OMIM:106210"	"ANIRIDIA 106210"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:53"	"https://panelapp.genomicsengland.co.uk/panels/510"	""	"19876904, 12552561, 11826019, 11553050, 17148041, 17595013, 17406642"	""	"000104.pa510.v2.6.hgnc:8620.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9005-MONDO_0019172-HP_0000006-GENCC_100003"	"HGNC:9005"	"PITX2"	"MONDO:0019172"	"aniridia"	"MONDO:0019172"	"aniridia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9005"	"PITX2"	"MONDO:0019172"	"Aniridia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-10-15 13:06:53"	"https://panelapp.genomicsengland.co.uk/panels/510"	""	"21423868, 27124303"	""	"000104.pa510.v2.6.hgnc:9005.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1171-OMIM_617141-HP_0000006-GENCC_100004"	"HGNC:1171"	"ELP4"	"MONDO:0014937"	"aniridia 2"	"OMIM:617141"	"?Aniridia 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1171"	"ELP4"	"OMIM:617141"	"?ANIRIDIA 2, 617141"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-10-15 13:06:54"	"https://panelapp.genomicsengland.co.uk/panels/510"	""	"24290376"	""	"000104.pa510.v2.6.hgnc:1171.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_19016-OMIM_617142-HP_0000006-GENCC_100004"	"HGNC:19016"	"TRIM44"	"MONDO:0014938"	"aniridia 3"	"OMIM:617142"	"?Aniridia 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:19016"	"TRIM44"	"OMIM:617142"	"?ANIRIDIA 3, 617142"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100004"	"Limited"	"2020-10-15 13:06:54"	"https://panelapp.genomicsengland.co.uk/panels/510"	""	"26394807"	""	"000104.pa510.v2.6.hgnc:19016.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2186-OMIM_604841-HP_0000006-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0011493"	"Stickler syndrome type 2"	"OMIM:604841"	"Stickler syndrome, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2186"	"COL11A1"	"OMIM:604841"	"STICKLER SYNDROME, TYPE II, 604841"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:54"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"10573014, 23922384, 20513134"	""	"000104.pa3.v2.3.hgnc:2186.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2186-OMIM_154780-HP_0000006-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0007949"	"Marshall syndrome"	"OMIM:154780"	"Marshall syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2186"	"COL11A1"	"OMIM:154780"	"MARSHALL SYNDROME, 154780"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:55"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"10573014, 23922384, 20513134"	""	"000104.pa3.v2.3.hgnc:2186.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2186-OMIM_604841-HP_0000007-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0011493"	"Stickler syndrome type 2"	"OMIM:604841"	"Stickler syndrome, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2186"	"COL11A1"	"OMIM:604841"	"STICKLER SYNDROME, TYPE II, 604841"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:55"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"10573014, 23922384, 20513134"	""	"000104.pa3.v2.3.hgnc:2186.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2186-OMIM_154780-HP_0000007-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0007949"	"Marshall syndrome"	"OMIM:154780"	"Marshall syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2186"	"COL11A1"	"OMIM:154780"	"MARSHALL SYNDROME, 154780"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:55"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"10573014, 23922384, 20513134"	""	"000104.pa3.v2.3.hgnc:2186.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_2187-OMIM_184840-HP_0000006-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0008490"	"otospondylomegaepiphyseal dysplasia, autosomal dominant"	"OMIM:184840"	"Otospondylomegaepiphyseal dysplasia, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2187"	"COL11A2"	"OMIM:184840"	"Otospondylomegaepiphyseal dysplasia, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:55"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	""	""	"000104.pa3.v2.3.hgnc:2187.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2200-OMIM_108300-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome type 1"	"OMIM:108300"	"Stickler syndrome, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2200"	"COL2A1"	"OMIM:108300"	"STICKLER SYNDROME, TYPE I, 108300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:55"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"16752401, 20513134"	""	"000104.pa3.v2.3.hgnc:2200.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2217-OMIM_614134-HP_0000007-GENCC_100002"	"HGNC:2217"	"COL9A1"	"MONDO:0013590"	"Stickler syndrome, type 4"	"OMIM:614134"	"Stickler syndrome, type IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2217"	"COL9A1"	"OMIM:614134"	"STICKLER SYNDROME, TYPE IV, 614134"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:55"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	""	""	"000104.pa3.v2.3.hgnc:2217.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2218-OMIM_614284-HP_0000007-GENCC_100002"	"HGNC:2218"	"COL9A2"	"MONDO:0013666"	"Stickler syndrome, type 5"	"OMIM:614284"	"?Stickler syndrome, type V"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2218"	"COL9A2"	"OMIM:614284"	"?Stickler syndrome, type V"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:55"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"21671392"	""	"000104.pa3.v2.3.hgnc:2218.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2219-MONDO_0019354-HP_0000007-GENCC_100002"	"HGNC:2219"	"COL9A3"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2219"	"COL9A3"	"MONDO:0019354"	"STICKLER SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:56"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"24273071, 30450842"	""	"000104.pa3.v2.3.hgnc:2219.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_15808-MONDO_0007875-HP_0000007-GENCC_100002"	"HGNC:15808"	"GZF1"	"MONDO:0007875"	"Larsen syndrome"	"MONDO:0007875"	"Larsen syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:15808"	"GZF1"	"MONDO:0007875"	"LARSEN SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-02-19 13:06:56"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"28475863"	""	"000104.pa3.v2.3.hgnc:15808.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1071-MONDO_0019354-HP_0000007-GENCC_100003"	"HGNC:1071"	"BMP4"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1071"	"BMP4"	"MONDO:0019354"	"STICKLER SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-19 13:06:56"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"25663169, 30362103"	""	"000104.pa3.v2.3.hgnc:1071.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13869-MONDO_0019354-HP_0000007-GENCC_100003"	"HGNC:13869"	"LOXL3"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13869"	"LOXL3"	"MONDO:0019354"	"STICKLER SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-19 13:06:56"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"25663169"	""	"000104.pa3.v2.3.hgnc:13869.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6694-MONDO_0019354-HP_0000006-GENCC_100003"	"HGNC:6694"	"LRP2"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6694"	"LRP2"	"MONDO:0019354"	"STICKLER SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-02-19 13:06:56"	"https://panelapp.genomicsengland.co.uk/panels/3"	""	"23992033"	""	"000104.pa3.v2.3.hgnc:6694.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2202-OMIM_611773-HP_0000006-GENCC_100002"	"HGNC:2202"	"COL4A1"	"MONDO:0012726"	"autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome"	"OMIM:611773"	"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2202"	"COL4A1"	"OMIM:611773"	"ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:56"	"https://panelapp.genomicsengland.co.uk/panels/99"	""	""	""	"000104.pa99.v2.5.hgnc:2202.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2204-OMIM_141200-HP_0000006-GENCC_100002"	"HGNC:2204"	"COL4A3"	"MONDO:0007709"	"hematuria, benign familial, 1"	"OMIM:141200"	"Hematuria, familial benign, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2204"	"COL4A3"	"OMIM:141200"	"HEMATURIA, BENIGN FAMILIAL"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:57"	"https://panelapp.genomicsengland.co.uk/panels/99"	""	""	""	"000104.pa99.v2.5.hgnc:2204.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2204-OMIM_104200-HP_0000006-GENCC_100002"	"HGNC:2204"	"COL4A3"	"MONDO:0007086"	"autosomal dominant Alport syndrome"	"OMIM:104200"	"Alport syndrome 3A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2204"	"COL4A3"	"OMIM:104200"	"ALPORT SYNDROME, AUTOSOMAL DOMINANT,"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:57"	"https://panelapp.genomicsengland.co.uk/panels/99"	""	""	""	"000104.pa99.v2.5.hgnc:2204.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2204-OMIM_203780-HP_0000007-GENCC_100002"	"HGNC:2204"	"COL4A3"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"OMIM:203780"	"Alport syndrome 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2204"	"COL4A3"	"OMIM:203780"	"ALPORT SYNDROME, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:57"	"https://panelapp.genomicsengland.co.uk/panels/99"	""	""	""	"000104.pa99.v2.5.hgnc:2204.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2206-OMIM_141200-HP_0000006-GENCC_100002"	"HGNC:2206"	"COL4A4"	"MONDO:0007709"	"hematuria, benign familial, 1"	"OMIM:141200"	"Hematuria, familial benign, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2206"	"COL4A4"	"OMIM:141200"	"HEMATURIA, FAMILIAL BENIGN"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:57"	"https://panelapp.genomicsengland.co.uk/panels/99"	""	""	""	"000104.pa99.v2.5.hgnc:2206.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2206-OMIM_203780-HP_0000007-GENCC_100002"	"HGNC:2206"	"COL4A4"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"OMIM:203780"	"Alport syndrome 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2206"	"COL4A4"	"OMIM:203780"	"ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:57"	"https://panelapp.genomicsengland.co.uk/panels/99"	""	""	""	"000104.pa99.v2.5.hgnc:2206.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2207-OMIM_301050-HP_0001417-GENCC_100002"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"X-linked Alport syndrome"	"OMIM:301050"	"Alport syndrome 1, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2207"	"COL4A5"	"OMIM:301050"	"ALPORT SYNDROME 1, X-LINKED"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:57"	"https://panelapp.genomicsengland.co.uk/panels/99"	""	""	""	"000104.pa99.v2.5.hgnc:2207.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7579-OMIM_155100-HP_0000006-GENCC_100002"	"HGNC:7579"	"MYH9"	"MONDO:0007954"	"May-Hegglin anomaly"	"OMIM:155100"	"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7579"	"MYH9"	"OMIM:155100"	"MACROTHOMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-10-15 13:06:57"	"https://panelapp.genomicsengland.co.uk/panels/99"	""	""	""	"000104.pa99.v2.5.hgnc:7579.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_33-OMIM_610921-HP_0000007-GENCC_100002"	"HGNC:33"	"ABCA3"	"MONDO:0012582"	"interstitial lung disease due to ABCA3 deficiency"	"OMIM:610921"	"Surfactant metabolism dysfunction, pulmonary, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:33"	"ABCA3"	"OMIM:610921"	"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY 3, 610921"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:06:58"	"https://panelapp.genomicsengland.co.uk/panels/551"	""	""	""	"000104.pa551.v1.4.hgnc:33.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10801-OMIM_265120-HP_0000007-GENCC_100002"	"HGNC:10801"	"SFTPB"	"MONDO:0009929"	"surfactant metabolism dysfunction, pulmonary, 1"	"OMIM:265120"	"Surfactant metabolism dysfunction, pulmonary, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10801"	"SFTPB"	"OMIM:265120"	"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY 1, 265120"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:06:58"	"https://panelapp.genomicsengland.co.uk/panels/551"	""	""	""	"000104.pa551.v1.4.hgnc:10801.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10802-OMIM_610913-HP_0000006-GENCC_100002"	"HGNC:10802"	"SFTPC"	"MONDO:0024465"	"surfactant metabolism dysfunction, pulmonary, 2"	"OMIM:610913"	"Surfactant metabolism dysfunction, pulmonary, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10802"	"SFTPC"	"OMIM:610913"	"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY 2, 610913"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:06:59"	"https://panelapp.genomicsengland.co.uk/panels/551"	""	""	""	"000104.pa551.v1.4.hgnc:10802.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10799-OMIM_178500-HP_0000006-GENCC_100003"	"HGNC:10799"	"SFTPA2"	"MONDO:0008345"	"idiopathic pulmonary fibrosis"	"OMIM:178500"	"{Pulmonary fibrosis, idiopathic, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10799"	"SFTPA2"	"OMIM:178500"	"PULMONARY FIBROSIS, IDIOPATHIC, 178500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:06:59"	"https://panelapp.genomicsengland.co.uk/panels/551"	""	""	""	"000104.pa551.v1.4.hgnc:10799.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3603-OMIM_154700-HP_0000006-GENCC_100002"	"HGNC:3603"	"FBN1"	"MONDO:0007947"	"Marfan syndrome"	"OMIM:154700"	"Marfan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3603"	"FBN1"	"OMIM:154700"	"MARFAN SYNDROME, 154700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:06:59"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:3603.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_27310-OMIM_173600-HP_0000006-GENCC_100002"	"HGNC:27310"	"FLCN"	"MONDO:0008259"	"familial spontaneous pneumothorax"	"OMIM:173600"	"Pneumothorax, primary spontaneous"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:27310"	"FLCN"	"OMIM:173600"	"Pneumothorax, primary spontaneous"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:00"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:27310.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_8941-OMIM_613490-HP_0000007-GENCC_100002"	"HGNC:8941"	"SERPINA1"	"MONDO:0013282"	"alpha 1-antitrypsin deficiency"	"OMIM:613490"	"Emphysema-cirrhosis, due to AAT deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:8941"	"SERPINA1"	"OMIM:613490"	"EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:00"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:8941.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_11768-OMIM_614816-HP_0000006-GENCC_100002"	"HGNC:11768"	"TGFB2"	"MONDO:0013897"	"Loeys-Dietz syndrome 4"	"OMIM:614816"	"Loeys-Dietz syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11768"	"TGFB2"	"OMIM:614816"	"LOEYS-DIETZ SYNDROME 4,  614816"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:00"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:11768.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11769-OMIM_615582-HP_0000006-GENCC_100002"	"HGNC:11769"	"TGFB3"	"MONDO:0014262"	"Rienhoff syndrome"	"OMIM:615582"	"Loeys-Dietz syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11769"	"TGFB3"	"OMIM:615582"	"LOEYS-DIETZ SYNDROME 5, 615582"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:00"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:11769.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11772-OMIM_609192-HP_0000006-GENCC_100002"	"HGNC:11772"	"TGFBR1"	"MONDO:0012212"	"Loeys-Dietz syndrome 1"	"OMIM:609192"	"Loeys-Dietz syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11772"	"TGFBR1"	"OMIM:609192"	"LOEYS-DIETZ SYNDROME 1, 609192"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:00"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:11772.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11773-OMIM_610168-HP_0000006-GENCC_100002"	"HGNC:11773"	"TGFBR2"	"MONDO:0012427"	"Loeys-Dietz syndrome 2"	"OMIM:610168"	"Loeys-Dietz syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11773"	"TGFBR2"	"OMIM:610168"	"LOEYS-DIETZ SYNDROME TYPE 2, 610168"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:00"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:11773.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12362-OMIM_606690-HP_0000006-GENCC_100002"	"HGNC:12362"	"TSC1"	"MONDO:0006277"	"lung lymphangioleiomyomatosis"	"OMIM:606690"	"Lymphangioleiomyomatosis, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12362"	"TSC1"	"OMIM:606690"	"LYMPHANGIOLEIOMYOMATOSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:00"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:12362.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12362-OMIM_191100-HP_0000006-GENCC_100002"	"HGNC:12362"	"TSC1"	"MONDO:0008612"	"tuberous sclerosis 1"	"OMIM:191100"	"Tuberous sclerosis-1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12362"	"TSC1"	"OMIM:191100"	"TUBEROUS SCLEROSIS-1, 191100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:00"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:12362.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_12363-MONDO_0011705-HP_0000006-GENCC_100002"	"HGNC:12363"	"TSC2"	"MONDO:0011705"	"lymphangioleiomyomatosis"	"MONDO:0011705"	"lymphangioleiomyomatosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12363"	"TSC2"	"MONDO:0011705"	"LYMPHANGIOLEIOMYOMATOSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:01"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:12363.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_12363-OMIM_613254-HP_0000006-GENCC_100002"	"HGNC:12363"	"TSC2"	"MONDO:0013199"	"tuberous sclerosis 2"	"OMIM:613254"	"Tuberous sclerosis-2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:12363"	"TSC2"	"OMIM:613254"	"TUBEROUS SCLEROSIS-2, 613254"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:01"	"https://panelapp.genomicsengland.co.uk/panels/105"	""	""	""	"000104.pa105.v2.20.hgnc:12363.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_218-OMIM_225410-HP_0000007-GENCC_100002"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"OMIM:225410"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:218"	"ADAMTS2"	"OMIM:225410"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:01"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:218.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_303-OMIM_618000-HP_0000007-GENCC_100002"	"HGNC:303"	"AEBP1"	"MONDO:0054813"	"Ehlers-Danlos syndrome, classic-like, 2"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:303"	"AEBP1"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:01"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:303.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9722-OMIM_616603-HP_0000006-GENCC_100002"	"HGNC:9722"	"ALDH18A1"	"MONDO:0014706"	"cutis laxa, autosomal dominant 3"	"OMIM:616603"	"Cutis laxa, autosomal dominant 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9722"	"ALDH18A1"	"OMIM:616603"	"CUTIS LAXA, AUTOSOMAL DOMINANT 3, 616603"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:01"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:9722.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9722-OMIM_219150-HP_0000007-GENCC_100002"	"HGNC:9722"	"ALDH18A1"	"MONDO:0009053"	"ALDH18A1-related de Barsy syndrome"	"OMIM:219150"	"Cutis laxa, autosomal recessive, type IIIA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9722"	"ALDH18A1"	"OMIM:219150"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, 219150"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:02"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:9722.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_18481-OMIM_219200-HP_0000007-GENCC_100002"	"HGNC:18481"	"ATP6V0A2"	"MONDO:0009054"	"autosomal recessive cutis laxa type 2, classic type"	"OMIM:219200"	"Cutis laxa, autosomal recessive, type IIA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18481"	"ATP6V0A2"	"OMIM:219200"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, 219200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:02"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:18481.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18481-OMIM_278250-HP_0000007-GENCC_100002"	"HGNC:18481"	"ATP6V0A2"	"MONDO:0010208"	"wrinkly skin syndrome"	"OMIM:278250"	"Wrinkly skin syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18481"	"ATP6V0A2"	"OMIM:278250"	"WRINKLY SKIN SYNDROME, 278250"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:02"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:18481.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_851-OMIM_617403-HP_0000007-GENCC_100002"	"HGNC:851"	"ATP6V1A"	"MONDO:0027451"	"autosomal recessive cutis laxa type 2D"	"OMIM:617403"	"Cutis laxa, autosomal recessive, type IID"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:851"	"ATP6V1A"	"OMIM:617403"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID, 617403"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:02"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:851.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_869-OMIM_304150-HP_0001417-GENCC_100002"	"HGNC:869"	"ATP7A"	"MONDO:0010572"	"occipital horn syndrome"	"OMIM:304150"	"Occipital horn syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:869"	"ATP7A"	"OMIM:304150"	"OCCIPITAL HORN SYNDROME, 304150"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:03"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:869.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17978-OMIM_615349-HP_0000007-GENCC_100002"	"HGNC:17978"	"B3GALT6"	"MONDO:0014139"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17978"	"B3GALT6"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:03"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:17978.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_17978-OMIM_271640-HP_0000007-GENCC_100002"	"HGNC:17978"	"B3GALT6"	"MONDO:0010075"	"spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"	"OMIM:271640"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:17978"	"B3GALT6"	"OMIM:271640"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:03"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:17978.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_930-OMIM_130070-HP_0000007-GENCC_100002"	"HGNC:930"	"B4GALT7"	"MONDO:0020682"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"OMIM:130070"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:930"	"B4GALT7"	"OMIM:130070"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:03"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:930.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1044-OMIM_300989-HP_0001417-GENCC_100002"	"HGNC:1044"	"BGN"	"MONDO:0010515"	"Meester-Loeys syndrome"	"OMIM:300989"	"Meester-Loeys syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1044"	"BGN"	"OMIM:300989"	"MEESTER-LOEYS SYNDROME, 300989"	"HP:0001417"	"X-linked inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:03"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:1044.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1246-OMIM_130080-HP_0000006-GENCC_100002"	"HGNC:1246"	"C1R"	"MONDO:0020684"	"Ehlers-Danlos syndrome, periodontal type 1"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1246"	"C1R"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:03"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:1246.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1247-OMIM_617174-HP_0000006-GENCC_100002"	"HGNC:1247"	"C1S"	"MONDO:0014954"	"Ehlers-Danlos syndrome, periodontal type 2"	"OMIM:617174"	"Ehlers-Danlos syndrome, periodontal type, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1247"	"C1S"	"OMIM:617174"	"Ehlers-Danlos syndrome, periodontal type, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:04"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:1247.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_1550-OMIM_236200-HP_0000007-GENCC_100002"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"classic homocystinuria"	"OMIM:236200"	"Homocystinuria, B6-responsive and nonresponsive types"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:1550"	"CBS"	"OMIM:236200"	"HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, 236200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:04"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:1550.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_24464-OMIM_601776-HP_0000007-GENCC_100002"	"HGNC:24464"	"CHST14"	"MONDO:0020681"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"OMIM:601776"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:24464"	"CHST14"	"OMIM:601776"	"EHLERS DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, 601776"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:04"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:24464.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2188-OMIM_616471-HP_0000006-GENCC_100002"	"HGNC:2188"	"COL12A1"	"MONDO:0014655"	"Bethlem myopathy 2"	"OMIM:616471"	"Bethlem myopathy 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2188"	"COL12A1"	"OMIM:616471"	"Bethlem myopathy 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:04"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2188.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2197-OMIM_130060-HP_0000006-GENCC_100002"	"HGNC:2197"	"COL1A1"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"OMIM:130060"	"Ehlers-Danlos syndrome, arthrochalasia type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2197"	"COL1A1"	"OMIM:130060"	"Ehlers-Danlos syndrome, arthrochalasia type, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:05"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2197.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2198-OMIM_617821-HP_0000006-GENCC_100002"	"HGNC:2198"	"COL1A2"	"MONDO:0040501"	"ehlers-danlos syndrome, arthrochalasia type, 2"	"OMIM:617821"	"Ehlers-Danlos syndrome, arthrochalasia type, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2198"	"COL1A2"	"OMIM:617821"	"Ehlers-Danlos syndrome, arthrochalasia type, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:05"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2198.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2198-OMIM_225320-HP_0000007-GENCC_100002"	"HGNC:2198"	"COL1A2"	"MONDO:0009159"	"Ehlers-Danlos syndrome, cardiac valvular type"	"OMIM:225320"	"Ehlers-Danlos syndrome, cardiac valvular type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2198"	"COL1A2"	"OMIM:225320"	"Ehlers-Danlos syndrome, cardiac valvular type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:05"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2198.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2201-OMIM_130050-HP_0000006-GENCC_100002"	"HGNC:2201"	"COL3A1"	"MONDO:0007524"	"autosomal dominant Ehlers-Danlos syndrome, vascular type"	"OMIM:130050"	"Ehlers-Danlos syndrome, vascular type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2201"	"COL3A1"	"OMIM:130050"	"Ehlers-Danlos syndrome, vascular type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:05"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2201.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2209-OMIM_130000-HP_0000006-GENCC_100002"	"HGNC:2209"	"COL5A1"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"OMIM:130000"	"Ehlers-Danlos syndrome, classic type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2209"	"COL5A1"	"OMIM:130000"	"Ehlers-Danlos syndrome, classic type, 1 "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:05"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2209.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2210-OMIM_130010-HP_0000006-GENCC_100002"	"HGNC:2210"	"COL5A2"	"MONDO:0019568"	"Ehlers-Danlos syndrome, classic type, 2"	"OMIM:130010"	"Ehlers-Danlos syndrome, classic type, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2210"	"COL5A2"	"OMIM:130010"	"Ehlers-Danlos syndrome, classic type, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:05"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2210.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2211-OMIM_158810-HP_0000006-GENCC_100002"	"HGNC:2211"	"COL6A1"	"MONDO:0024530"	"Bethlem myopathy 1A"	"OMIM:158810"	"Bethlem myopathy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2211"	"COL6A1"	"OMIM:158810"	"BETHLEM MYOPATHY 1,158810"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2211.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2211-OMIM_254090-HP_0000006-GENCC_100002"	"HGNC:2211"	"COL6A1"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2211"	"COL6A1"	"OMIM:254090"	"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1,254090"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2211.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2211-OMIM_158810-HP_0000007-GENCC_100002"	"HGNC:2211"	"COL6A1"	"MONDO:0024530"	"Bethlem myopathy 1A"	"OMIM:158810"	"Bethlem myopathy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2211"	"COL6A1"	"OMIM:158810"	"BETHLEM MYOPATHY 1,158810"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2211.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2211-OMIM_254090-HP_0000007-GENCC_100002"	"HGNC:2211"	"COL6A1"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2211"	"COL6A1"	"OMIM:254090"	"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1,254090"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2211.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_2212-OMIM_158810-HP_0000006-GENCC_100002"	"HGNC:2212"	"COL6A2"	"MONDO:0024530"	"Bethlem myopathy 1A"	"OMIM:158810"	"Bethlem myopathy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2212"	"COL6A2"	"OMIM:158810"	"BETHLEM MYOPATHY 1,158810"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2212.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2212-OMIM_254090-HP_0000006-GENCC_100002"	"HGNC:2212"	"COL6A2"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2212"	"COL6A2"	"OMIM:254090"	"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1,254090"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2212.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2212-OMIM_158810-HP_0000007-GENCC_100002"	"HGNC:2212"	"COL6A2"	"MONDO:0024530"	"Bethlem myopathy 1A"	"OMIM:158810"	"Bethlem myopathy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2212"	"COL6A2"	"OMIM:158810"	"BETHLEM MYOPATHY 1,158810"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2212.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2212-OMIM_254090-HP_0000007-GENCC_100002"	"HGNC:2212"	"COL6A2"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2212"	"COL6A2"	"OMIM:254090"	"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1,254090"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2212.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_2213-OMIM_158810-HP_0000006-GENCC_100002"	"HGNC:2213"	"COL6A3"	"MONDO:0024530"	"Bethlem myopathy 1A"	"OMIM:158810"	"Bethlem myopathy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2213"	"COL6A3"	"OMIM:158810"	"BETHLEM MYOPATHY 1,158810"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:06"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2213.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2213-OMIM_254090-HP_0000006-GENCC_100002"	"HGNC:2213"	"COL6A3"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2213"	"COL6A3"	"OMIM:254090"	"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1,254090"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:07"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2213.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_2213-OMIM_158810-HP_0000007-GENCC_100002"	"HGNC:2213"	"COL6A3"	"MONDO:0024530"	"Bethlem myopathy 1A"	"OMIM:158810"	"Bethlem myopathy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2213"	"COL6A3"	"OMIM:158810"	"BETHLEM MYOPATHY 1,158810"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:07"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2213.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_2213-OMIM_254090-HP_0000007-GENCC_100002"	"HGNC:2213"	"COL6A3"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2213"	"COL6A3"	"OMIM:254090"	"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1,254090"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:07"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2213.m2.p2"	"2021-03-31"
"GENCC_000104-HGNC_21144-OMIM_615539-HP_0000007-GENCC_100002"	"HGNC:21144"	"DSE"	"MONDO:0014236"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"OMIM:615539"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:21144"	"DSE"	"OMIM:615539"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:07"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:21144.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3219-OMIM_614437-HP_0000007-GENCC_100002"	"HGNC:3219"	"EFEMP2"	"MONDO:0013754"	"cutis laxa, autosomal recessive, type 1B"	"OMIM:614437"	"Cutis laxa, autosomal recessive, type IB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3219"	"EFEMP2"	"OMIM:614437"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, 614437"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:07"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:3219.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3327-OMIM_123700-HP_0000006-GENCC_100002"	"HGNC:3327"	"ELN"	"MONDO:0007411"	"cutis laxa, autosomal dominant 1"	"OMIM:123700"	"Cutis laxa, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3327"	"ELN"	"OMIM:123700"	"Cutis laxa, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:07"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:3327.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3602-OMIM_614434-HP_0000006-GENCC_100002"	"HGNC:3602"	"FBLN5"	"MONDO:0013751"	"cutis laxa, autosomal dominant 2"	"OMIM:614434"	"?Cutis laxa, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3602"	"FBLN5"	"OMIM:614434"	"?CUTIS LAXA, AUTOSOMAL DOMINANT 2, 614434"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:07"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:3602.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_3602-OMIM_219100-HP_0000007-GENCC_100002"	"HGNC:3602"	"FBLN5"	"MONDO:0009052"	"cutis laxa, autosomal recessive, type 1A"	"OMIM:219100"	"Cutis laxa, autosomal recessive, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3602"	"FBLN5"	"OMIM:219100"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA, 219100"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:3602.m2.p1"	"2021-03-31"
"GENCC_000104-HGNC_3604-OMIM_121050-HP_0000006-GENCC_100002"	"HGNC:3604"	"FBN2"	"MONDO:0007363"	"congenital contractural arachnodactyly"	"OMIM:121050"	"Contractural arachnodactyly, congenital"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:3604"	"FBN2"	"OMIM:121050"	"CONTRACTURAL ARACHNODACTYLY, CONGENITAL, 121050"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:3604.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_18625-OMIM_614557-HP_0000007-GENCC_100002"	"HGNC:18625"	"FKBP14"	"MONDO:0013800"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"OMIM:614557"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18625"	"FKBP14"	"OMIM:614557"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:18625.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_25676-OMIM_231070-HP_0000007-GENCC_100002"	"HGNC:25676"	"GORAB"	"MONDO:0009271"	"geroderma osteodysplastica"	"OMIM:231070"	"Geroderma osteodysplasticum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:25676"	"GORAB"	"OMIM:231070"	"GERODERMA OSTEODYSPLASTICUM, 231070"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:25676.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6664-OMIM_617168-HP_0000006-GENCC_100002"	"HGNC:6664"	"LOX"	"MONDO:0014950"	"aortic aneurysm, familial thoracic 10"	"OMIM:617168"	"Aortic aneurysm, familial thoracic 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6664"	"LOX"	"OMIM:617168"	"AORTIC ANEURYSM, FAMILIAL THORACIC 10, 617168"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:6664.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6717-OMIM_613177-HP_0000007-GENCC_100002"	"HGNC:6717"	"LTBP4"	"MONDO:0013170"	"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"	"OMIM:613177"	"Cutis laxa, autosomal recessive, type IC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6717"	"LTBP4"	"OMIM:613177"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, 613177"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:6717.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9081-OMIM_225400-HP_0000007-GENCC_100002"	"HGNC:9081"	"PLOD1"	"MONDO:0016002"	"Ehlers-Danlos syndrome, kyphoscoliotic type 1"	"OMIM:225400"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9081"	"PLOD1"	"OMIM:225400"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:9081.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9349-OMIM_614170-HP_0000007-GENCC_100002"	"HGNC:9349"	"PRDM5"	"MONDO:0013605"	"brittle cornea syndrome 2"	"OMIM:614170"	"Brittle cornea syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9349"	"PRDM5"	"OMIM:614170"	"BRITTLE CORNEA SYNDROME 2, 614170"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:9349.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9721-OMIM_614438-HP_0000007-GENCC_100002"	"HGNC:9721"	"PYCR1"	"MONDO:0013755"	"PYCR1-related de Barsy syndrome"	"OMIM:614438"	"Cutis laxa, autosomal recessive, type IIIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9721"	"PYCR1"	"OMIM:614438"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, 614438"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:9721.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_9721-OMIM_612940-HP_0000007-GENCC_100002"	"HGNC:9721"	"PYCR1"	"MONDO:0013051"	"autosomal recessive cutis laxa type 2B"	"OMIM:612940"	"Cutis laxa, autosomal recessive, type IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:9721"	"PYCR1"	"OMIM:612940"	"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, 612940"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:9721.m1.p2"	"2021-03-31"
"GENCC_000104-HGNC_18750-OMIM_613075-HP_0000007-GENCC_100002"	"HGNC:18750"	"RIN2"	"MONDO:0013115"	"RIN2 syndrome"	"OMIM:613075"	"Macrocephaly, alopecia, cutis laxa, and scoliosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:18750"	"RIN2"	"OMIM:613075"	"MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, 613075"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:18750.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_13433-OMIM_607313-HP_0000007-GENCC_100002"	"HGNC:13433"	"ROBO3"	"MONDO:0020790"	"gaze palsy, familial horizontal, with progressive scoliosis 1"	"OMIM:607313"	"Gaze palsy, familial horizontal, with progressive scoliosis, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:13433"	"ROBO3"	"OMIM:607313"	"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1, 607313"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:13433.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_10896-OMIM_182212-HP_0000006-GENCC_100002"	"HGNC:10896"	"SKI"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:10896"	"SKI"	"OMIM:182212"	"SHPRINTZEN-GOLDBERG SYNDROME, 182212"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:08"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:10896.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_20859-OMIM_612350-HP_0000007-GENCC_100002"	"HGNC:20859"	"SLC39A13"	"MONDO:0012873"	"Ehlers-Danlos syndrome, spondylocheirodysplastic type"	"OMIM:612350"	"Ehlers-Danlos syndrome, spondylodysplastic type, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:20859"	"SLC39A13"	"OMIM:612350"	"Ehlers-Danlos syndrome, spondylodysplastic type, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:09"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:20859.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6768-MONDO_0018954-HP_0000006-GENCC_100002"	"HGNC:6768"	"SMAD2"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6768"	"SMAD2"	"MONDO:0018954"	"LOEYS-DIETZ SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:09"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:6768.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_6769-OMIM_613795-HP_0000006-GENCC_100002"	"HGNC:6769"	"SMAD3"	"MONDO:0013426"	"aneurysm-osteoarthritis syndrome"	"OMIM:613795"	"Loeys-Dietz syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:6769"	"SMAD3"	"OMIM:613795"	"LOEYS-DIETZ SYNDROME 3, 613795"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:09"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:6769.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_11976-OMIM_606408-HP_0000007-GENCC_100002"	"HGNC:11976"	"TNXB"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"OMIM:606408"	"Ehlers-Danlos syndrome, classic-like, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:11976"	"TNXB"	"OMIM:606408"	"Ehlers-Danlos syndrome, classic-like, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:09"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:11976.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_23216-OMIM_229200-HP_0000007-GENCC_100002"	"HGNC:23216"	"ZNF469"	"MONDO:0024543"	"brittle cornea syndrome 1"	"OMIM:229200"	"Brittle cornea syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:23216"	"ZNF469"	"OMIM:229200"	"BRITTLE CORNEA SYNDROME 1, 229200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:09"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:23216.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_76-MONDO_0003900-HP_0000006-GENCC_100003"	"HGNC:76"	"ABL1"	"MONDO:0003900"	"connective tissue disorder"	"MONDO:0003900"	"connective tissue disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:76"	"ABL1"	"MONDO:0003900"	"connective tissue disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:07:09"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:76.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_130-MONDO_0003900-HP_0000006-GENCC_100003"	"HGNC:130"	"ACTA2"	"MONDO:0003900"	"connective tissue disorder"	"MONDO:0003900"	"connective tissue disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:130"	"ACTA2"	"MONDO:0003900"	"connective tissue disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:07:09"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:130.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_2701-MONDO_0003900-HP_0000007-GENCC_100003"	"HGNC:2701"	"DCC"	"MONDO:0003900"	"connective tissue disorder"	"MONDO:0003900"	"connective tissue disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:2701"	"DCC"	"MONDO:0003900"	"connective tissue disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:07:09"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:2701.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7590-MONDO_0003900-HP_0000006-GENCC_100003"	"HGNC:7590"	"MYLK"	"MONDO:0003900"	"connective tissue disorder"	"MONDO:0003900"	"connective tissue disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7590"	"MYLK"	"MONDO:0003900"	"connective tissue disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:07:10"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:7590.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_7881-MONDO_0003900-HP_0000006-GENCC_100003"	"HGNC:7881"	"NOTCH1"	"MONDO:0003900"	"connective tissue disorder"	"MONDO:0003900"	"connective tissue disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:7881"	"NOTCH1"	"MONDO:0003900"	"connective tissue disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:07:10"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:7881.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26270-OMIM_248700-HP_0000007-GENCC_100003"	"HGNC:26270"	"PIEZO2"	"MONDO:0009564"	"Marden-Walker syndrome"	"OMIM:248700"	"?Marden-Walker syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26270"	"PIEZO2"	"OMIM:248700"	"?MARDEN-WALKER SYNDROME, 248700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:07:10"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:26270.m1.p1"	"2021-03-31"
"GENCC_000104-HGNC_26270-MONDO_0003900-HP_0000007-GENCC_100003"	"HGNC:26270"	"PIEZO2"	"MONDO:0003900"	"connective tissue disorder"	"MONDO:0003900"	"connective tissue disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000104"	"Genomics England PanelApp"	"HGNC:26270"	"PIEZO2"	"MONDO:0003900"	"connective tissue disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000104"	"Genomics England PanelApp"	"GENCC:100003"	"Moderate"	"2020-03-04 13:07:10"	"https://panelapp.genomicsengland.co.uk/panels/53"	""	""	""	"000104.pa53.v2.4.hgnc:26270.m1.p2"	"2021-03-31"
"GENCC_000111-HGNC_124-OMIM_607944-HP_0000007-GENCC_100002"	"HGNC:124"	"ACP5"	"MONDO:0011939"	"Spondyloenchondrodysplasia with immune dysregulation"	"OMIM:607944"	"Spondyloenchondrodysplasia with immune dysregulation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:124"	"ACP5"	"OMIM:607944"	"Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:11"	"https://panelapp.agha.umccr.org/panels/58/"	""	"21217755, 21217752"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.124"	"2020-12-24"
"GENCC_000111-HGNC_225-OMIM_615010-HP_0000006-GENCC_100002"	"HGNC:225"	"ADAR"	"MONDO:0014007"	"Aicardi-Goutieres syndrome 6"	"OMIM:615010"	"Aicardi-Goutieres syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:225"	"ADAR"	"OMIM:615010"	"Aicardi-Goutieres syndrome 6, MIM#615010"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:11"	"https://panelapp.agha.umccr.org/panels/58/"	""	"23001123, 24262145"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.225"	"2020-12-24"
"GENCC_000111-HGNC_225-OMIM_615010-HP_0000007-GENCC_100002"	"HGNC:225"	"ADAR"	"MONDO:0014007"	"Aicardi-Goutieres syndrome 6"	"OMIM:615010"	"Aicardi-Goutieres syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:225"	"ADAR"	"OMIM:615010"	"Aicardi-Goutieres syndrome 6, MIM#615010"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:11"	"https://panelapp.agha.umccr.org/panels/58/"	""	"23001123, 24262145"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.225"	"2020-12-24"
"GENCC_000111-HGNC_2202-OMIM_175780-HP_0000006-GENCC_100002"	"HGNC:2202"	"COL4A1"	"MONDO:0008289"	"brain small vessel disease 1 with or without ocular anomalies"	"OMIM:175780"	"Brain small vessel disease with or without ocular anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2202"	"COL4A1"	"OMIM:175780"	"Brain small vessel disease with or without ocular anomalies, MIM# 175780"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:11"	"https://panelapp.agha.umccr.org/panels/58/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.2202"	"2020-12-24"
"GENCC_000111-HGNC_26169-OMIM_612199-HP_0000007-GENCC_100002"	"HGNC:26169"	"CTC1"	"MONDO:0024564"	"cerebroretinal microangiopathy with calcifications and cysts 1"	"OMIM:612199"	"Cerebroretinal microangiopathy with calcifications and cysts"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26169"	"CTC1"	"OMIM:612199"	"Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:11"	"https://panelapp.agha.umccr.org/panels/58/"	""	"22267198, 22387016"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.26169"	"2020-12-24"
"GENCC_000111-HGNC_20582-OMIM_615030-HP_0000007-GENCC_100002"	"HGNC:20582"	"CYP2U1"	"MONDO:0014015"	"hereditary spastic paraplegia 56"	"OMIM:615030"	"Spastic paraplegia 56, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20582"	"CYP2U1"	"OMIM:615030"	"Spastic paraplegia 56, autosomal recessive, MIM# 615030"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:11"	"https://panelapp.agha.umccr.org/panels/58/"	""	"23176821"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.20582"	"2020-12-24"
"GENCC_000111-HGNC_3438-OMIM_133540-HP_0000007-GENCC_100002"	"HGNC:3438"	"ERCC6"	"MONDO:0019570"	"Cockayne syndrome type 2"	"OMIM:133540"	"Cockayne syndrome, type B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3438"	"ERCC6"	"OMIM:133540"	"Cockayne syndrome, type B, MIM#133540"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:11"	"https://panelapp.agha.umccr.org/panels/58/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.3438"	"2020-12-24"
"GENCC_000111-HGNC_3439-OMIM_216400-HP_0000007-GENCC_100002"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"OMIM:216400"	"Cockayne syndrome, type A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3439"	"ERCC8"	"OMIM:216400"	"Cockayne syndrome, type A, MIM# 216400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:11"	"https://panelapp.agha.umccr.org/panels/58/"	""	"26204423"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.3439"	"2020-12-24"
"GENCC_000111-HGNC_3592-OMIM_619013-HP_0000007-GENCC_100004"	"HGNC:3592"	"FARSA"	"MONDO:0100220"	"Rajab interstitial lung disease with brain calcifications 2"	"OMIM:619013"	"?Rajab interstitial lung disease with brain calcifications 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3592"	"FARSA"	"OMIM:619013"	"Rajab interstitial lung disease with brain calcifications 2, MIM# 619013"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-12-22 13:07:12"	"https://panelapp.agha.umccr.org/panels/58/"	""	"31355908"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.3592"	"2020-12-24"
"GENCC_000111-HGNC_17800-OMIM_613658-HP_0000007-GENCC_100002"	"HGNC:17800"	"FARSB"	"MONDO:0100215"	"Rajab interstitial lung disease with brain calcifications 1"	"OMIM:613658"	"Rajab interstitial lung disease with brain calcifications 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17800"	"FARSB"	"OMIM:613658"	"Rajab syndrome, MIM#613658"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:12"	"https://panelapp.agha.umccr.org/panels/58/"	""	"29573043, 19161147, 29979980, 30014610"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.17800"	"2020-12-24"
"GENCC_000111-HGNC_4115-OMIM_245200-HP_0000007-GENCC_100002"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"OMIM:245200"	"Krabbe disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4115"	"GALC"	"OMIM:245200"	"Krabbe disease, MIM# 245200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:12"	"https://panelapp.agha.umccr.org/panels/58/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.4115"	"2020-12-24"
"GENCC_000111-HGNC_18873-OMIM_615846-HP_0000006-GENCC_100002"	"HGNC:18873"	"IFIH1"	"MONDO:0014367"	"Aicardi-Goutieres syndrome 7"	"OMIM:615846"	"Aicardi-Goutieres syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18873"	"IFIH1"	"OMIM:615846"	"Aicardi-Goutieres syndrome 7, MIM#615846"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:12"	"https://panelapp.agha.umccr.org/panels/58/"	""	"24686847"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.18873"	"2020-12-24"
"GENCC_000111-HGNC_14686-OMIM_618824-HP_0000007-GENCC_100002"	"HGNC:14686"	"JAM2"	"MONDO:0032938"	"basal ganglia calcification, idiopathic, 8, autosomal recessive"	"OMIM:618824"	"Basal ganglia calcification, idiopathic, 8, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14686"	"JAM2"	"OMIM:618824"	"Primary brain calcification"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:13"	"https://panelapp.agha.umccr.org/panels/58/"	""	"31851307"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.14686"	"2020-12-24"
"GENCC_000111-HGNC_15532-OMIM_613730-HP_0000007-GENCC_100002"	"HGNC:15532"	"JAM3"	"MONDO:0013394"	"porencephaly-microcephaly-bilateral congenital cataract syndrome"	"OMIM:613730"	"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15532"	"JAM3"	"OMIM:613730"	"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:13"	"https://panelapp.agha.umccr.org/panels/58/"	""	"23255084, 21109224"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.15532"	"2020-12-24"
"GENCC_000111-HGNC_19918-OMIM_618317-HP_0000006-GENCC_100002"	"HGNC:19918"	"MYORG"	"MONDO:0032673"	"basal ganglia calcification, idiopathic, 7, autosomal recessive"	"OMIM:618317"	"Basal ganglia calcification, idiopathic, 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:19918"	"MYORG"	"OMIM:618317"	"Basal ganglia calcification, idiopathic, 7, MIM#618317"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:13"	"https://panelapp.agha.umccr.org/panels/58/"	""	"30656188, 30649222, 30460687, 29910000, 31951047"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.19918"	"2020-12-24"
"GENCC_000111-HGNC_19918-OMIM_618317-HP_0000007-GENCC_100002"	"HGNC:19918"	"MYORG"	"MONDO:0032673"	"basal ganglia calcification, idiopathic, 7, autosomal recessive"	"OMIM:618317"	"Basal ganglia calcification, idiopathic, 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:19918"	"MYORG"	"OMIM:618317"	"Basal ganglia calcification, idiopathic, 7, MIM#618317"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:13"	"https://panelapp.agha.umccr.org/panels/58/"	""	"30656188, 30649222, 30460687, 29910000, 31951047"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.19918"	"2020-12-24"
"GENCC_000111-HGNC_24613-OMIM_618875-HP_0000007-GENCC_100002"	"HGNC:24613"	"NRROS"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"OMIM:618875"	"Seizures, early-onset, with neurodegeneration and brain calcification"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24613"	"NRROS"	"OMIM:618875"	"Seizures, early-onset, with neurodegeneration and brain calcification, MIM#618875"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:13"	"https://panelapp.agha.umccr.org/panels/58/"	""	"32100099, 32197075"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.24613"	"2020-12-24"
"GENCC_000111-HGNC_8104-OMIM_251290-HP_0000007-GENCC_100002"	"HGNC:8104"	"OCLN"	"MONDO:0020789"	"pseudo-TORCH syndrome 1"	"OMIM:251290"	"Pseudo-TORCH syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8104"	"OCLN"	"OMIM:251290"	"Pseudo-TORCH syndrome 1, MIM#251290"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:14"	"https://panelapp.agha.umccr.org/panels/58/"	""	"20727516, 32240828, 29192239, 28386946"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.8104"	"2020-12-24"
"GENCC_000111-HGNC_8800-OMIM_615483-HP_0000006-GENCC_100002"	"HGNC:8800"	"PDGFB"	"MONDO:0014204"	"basal ganglia calcification, idiopathic, 5"	"OMIM:615483"	"Basal ganglia calcification, idiopathic, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8800"	"PDGFB"	"OMIM:615483"	"Basal ganglia calcification, idiopathic, 5 , MIM#615483"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:14"	"https://panelapp.agha.umccr.org/panels/58/"	""	"23913003, 30952898, 30609140"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.8800"	"2020-12-24"
"GENCC_000111-HGNC_8804-OMIM_615007-HP_0000006-GENCC_100002"	"HGNC:8804"	"PDGFRB"	"MONDO:0014004"	"basal ganglia calcification, idiopathic, 4"	"OMIM:615007"	"Basal ganglia calcification, idiopathic, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8804"	"PDGFRB"	"OMIM:615007"	"Basal ganglia calcification, idiopathic, 4, MIM# 615007"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:14"	"https://panelapp.agha.umccr.org/panels/58/"	""	"31004414, 30979360, 32613555"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.8804"	"2020-12-24"
"GENCC_000111-HGNC_18518-OMIM_610333-HP_0000007-GENCC_100002"	"HGNC:18518"	"RNASEH2A"	"MONDO:0012472"	"Aicardi-Goutieres syndrome 4"	"OMIM:610333"	"Aicardi-Goutieres syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18518"	"RNASEH2A"	"OMIM:610333"	"Aicardi-Goutieres syndrome 4, MIM# 610333"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:14"	"https://panelapp.agha.umccr.org/panels/58/"	""	"17846997, 16845400, 23592335, 27643693"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.18518"	"2020-12-24"
"GENCC_000111-HGNC_25671-OMIM_610181-HP_0000007-GENCC_100002"	"HGNC:25671"	"RNASEH2B"	"MONDO:0012429"	"Aicardi-Goutieres syndrome 2"	"OMIM:610181"	"Aicardi-Goutieres syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25671"	"RNASEH2B"	"OMIM:610181"	"Aicardi-Goutieres syndrome 2, MIM# 610181"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:14"	"https://panelapp.agha.umccr.org/panels/58/"	""	"16845400, 33307271, 29239743"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.25671"	"2020-12-24"
"GENCC_000111-HGNC_24116-OMIM_610329-HP_0000007-GENCC_100002"	"HGNC:24116"	"RNASEH2C"	"MONDO:0012471"	"Aicardi-Goutieres syndrome 3"	"OMIM:610329"	"Aicardi-Goutieres syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24116"	"RNASEH2C"	"OMIM:610329"	"Aicardi-Goutieres syndrome 3, MIM# 610329"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:14"	"https://panelapp.agha.umccr.org/panels/58/"	""	"16845400, 29239743, 29150899, 27643693"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.24116"	"2020-12-24"
"GENCC_000111-HGNC_21686-OMIM_612951-HP_0000007-GENCC_100002"	"HGNC:21686"	"RNASET2"	"MONDO:0013058"	"cystic leukoencephalopathy without megalencephaly"	"OMIM:612951"	"Leukoencephalopathy, cystic, without megalencephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21686"	"RNASET2"	"OMIM:612951"	"Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:14"	"https://panelapp.agha.umccr.org/panels/58/"	""	"19525954"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.21686"	"2020-12-24"
"GENCC_000111-HGNC_15925-OMIM_612952-HP_0000007-GENCC_100002"	"HGNC:15925"	"SAMHD1"	"MONDO:0013059"	"Aicardi-Goutieres syndrome 5"	"OMIM:612952"	"Aicardi-Goutieres syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15925"	"SAMHD1"	"OMIM:612952"	"Aicardi-Goutieres syndrome 5, MIM# 612952"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:14"	"https://panelapp.agha.umccr.org/panels/58/"	""	"19525956, 21102625, 33307271"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.15925"	"2020-12-24"
"GENCC_000111-HGNC_10947-OMIM_213600-HP_0000006-GENCC_100002"	"HGNC:10947"	"SLC20A2"	"MONDO:0024538"	"basal ganglia calcification, idiopathic, 1"	"OMIM:213600"	"Basal ganglia calcification, idiopathic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10947"	"SLC20A2"	"OMIM:213600"	"Basal ganglia calcification, idiopathic, 1, MIM# 213600"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"22327515, 23334463"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.10947"	"2020-12-24"
"GENCC_000111-HGNC_32952-OMIM_614561-HP_0000007-GENCC_100002"	"HGNC:32952"	"SNORD118"	"MONDO:0013803"	"leukoencephalopathy with calcifications and cysts"	"OMIM:614561"	"Leukoencephalopathy, brain calcifications, and cysts"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:32952"	"SNORD118"	"OMIM:614561"	"Leukoencephalopathy, brain calcifications, and cysts, MIM#614561"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"27571260"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.32952"	"2020-12-24"
"GENCC_000111-HGNC_26200-OMIM_617341-HP_0000007-GENCC_100002"	"HGNC:26200"	"STN1"	"MONDO:0015026"	"cerebroretinal microangiopathy with calcifications and cysts 2"	"OMIM:617341"	"Cerebroretinal microangiopathy with calcifications and cysts 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26200"	"STN1"	"OMIM:617341"	"Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"27432940, 32627942"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.26200"	"2020-12-24"
"GENCC_000111-HGNC_11824-OMIM_268130-HP_0000006-GENCC_100002"	"HGNC:11824"	"TINF2"	"MONDO:0009990"	"Revesz syndrome"	"OMIM:268130"	"Revesz syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11824"	"TINF2"	"OMIM:268130"	"Revesz syndrome, MIM# 268130"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"21477109, 18252230"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.11824"	"2020-12-24"
"GENCC_000111-HGNC_17761-OMIM_618193-HP_0000007-GENCC_100002"	"HGNC:17761"	"TREM2"	"MONDO:0020750"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"OMIM:618193"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17761"	"TREM2"	"OMIM:618193"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"12080485, 15883308"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.17761"	"2020-12-24"
"GENCC_000111-HGNC_12269-OMIM_225750-HP_0000006-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0009165"	"Aicardi-Goutieres syndrome 1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12269"	"TREX1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"17846997"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.12269"	"2020-12-24"
"GENCC_000111-HGNC_12269-OMIM_225750-HP_0000007-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0009165"	"Aicardi-Goutieres syndrome 1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12269"	"TREX1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"17846997"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.12269"	"2020-12-24"
"GENCC_000111-HGNC_12362-OMIM_191100-HP_0000006-GENCC_100002"	"HGNC:12362"	"TSC1"	"MONDO:0008612"	"tuberous sclerosis 1"	"OMIM:191100"	"Tuberous sclerosis-1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12362"	"TSC1"	"OMIM:191100"	"Tuberous sclerosis 1, MIM# 191100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.12362"	"2020-12-24"
"GENCC_000111-HGNC_12363-OMIM_613254-HP_0000006-GENCC_100002"	"HGNC:12363"	"TSC2"	"MONDO:0013199"	"tuberous sclerosis 2"	"OMIM:613254"	"Tuberous sclerosis-2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12363"	"TSC2"	"OMIM:613254"	"Tuberous sclerosis 2, MIM# 613254"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.12363"	"2020-12-24"
"GENCC_000111-HGNC_12449-OMIM_221770-HP_0000007-GENCC_100002"	"HGNC:12449"	"TYROBP"	"MONDO:0020749"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"OMIM:221770"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12449"	"TYROBP"	"OMIM:221770"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:15"	"https://panelapp.agha.umccr.org/panels/58/"	""	"30242731"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.12449"	"2020-12-24"
"GENCC_000111-HGNC_12616-OMIM_617397-HP_0000007-GENCC_100002"	"HGNC:12616"	"USP18"	"MONDO:0018828"	"pseudo-TORCH syndrome 2"	"OMIM:617397"	"Pseudo-TORCH syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12616"	"USP18"	"OMIM:617397"	"Pseudo-TORCH syndrome 2, MIM# 617397"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:16"	"https://panelapp.agha.umccr.org/panels/58/"	""	"31940699, 27325888"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.12616"	"2020-12-24"
"GENCC_000111-HGNC_12827-OMIM_616413-HP_0000006-GENCC_100002"	"HGNC:12827"	"XPR1"	"MONDO:0014628"	"basal ganglia calcification, idiopathic, 6"	"OMIM:616413"	"Basal ganglia calcification, idiopathic, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12827"	"XPR1"	"OMIM:616413"	"Basal ganglia calcification, idiopathic, 6, MIM# 616413"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:16"	"https://panelapp.agha.umccr.org/panels/58/"	""	"25938945"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.58.12827"	"2020-12-24"
"GENCC_000111-HGNC_15808-OMIM_617662-HP_0000007-GENCC_100002"	"HGNC:15808"	"GZF1"	"MONDO:0060556"	"joint laxity, short stature, and myopia"	"OMIM:617662"	"Joint laxity, short stature, and myopia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15808"	"GZF1"	"OMIM:617662"	"Joint laxity, short stature, and myopia, MIM# 617662"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-16 13:07:18"	"https://panelapp.agha.umccr.org/panels/3114/"	""	"33009817, 28475863"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3114.15808"	"2021-01-21"
"GENCC_000111-HGNC_12703-OMIM_193220-HP_0000006-GENCC_100002"	"HGNC:12703"	"BEST1"	"MONDO:0008662"	"autosomal dominant vitreoretinochoroidopathy"	"OMIM:193220"	"Vitreoretinochoroidopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12703"	"BEST1"	"OMIM:193220"	"Vitreoretinochoroidopathy, MIM# 193220"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-03-04 13:07:19"	"https://panelapp.agha.umccr.org/panels/180/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.180.12703"	"2021-01-21"
"GENCC_000111-HGNC_9475-OMIM_167800-HP_0000006-GENCC_100002"	"HGNC:9475"	"PRSS1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9475"	"PRSS1"	"OMIM:167800"	"Pancreatitis, hereditary, MIM# 167800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-17 13:07:20"	"https://panelapp.agha.umccr.org/panels/154/"	""	"8841182, 10204851, 10529393, 11097832, 11702203, 15776435, 16791840, 18461367, 17072318"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.154.9475"	"2021-01-21"
"GENCC_000111-HGNC_11244-OMIM_608189-HP_0000006-GENCC_100002"	"HGNC:11244"	"SPINK1"	"MONDO:0011986"	"tropical pancreatitis"	"OMIM:608189"	"{Fibrocalculous pancreatic diabetes, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11244"	"SPINK1"	"OMIM:608189"	"Tropical calcific pancreatitis, MIM# 608189"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-17 13:07:21"	"https://panelapp.agha.umccr.org/panels/154/"	""	"10835640, 11355022, 11938439, 16823394, 17274009, 27535533"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.154.11244.1"	"2021-01-21"
"GENCC_000111-HGNC_11244-OMIM_167800-HP_0000006-GENCC_100002"	"HGNC:11244"	"SPINK1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11244"	"SPINK1"	"OMIM:167800"	"Pancreatitis, hereditary, MIM# 167800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-17 13:07:21"	"https://panelapp.agha.umccr.org/panels/154/"	""	"10835640, 11355022, 11938439, 16823394, 17274009, 27535533"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.154.11244.2"	"2021-01-21"
"GENCC_000111-HGNC_21497-OMIM_611126-HP_0000007-GENCC_100002"	"HGNC:21497"	"ACAD9"	"MONDO:0012624"	"acyl-CoA dehydrogenase 9 deficiency"	"OMIM:611126"	"Mitochondrial complex I deficiency, nuclear type 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21497"	"ACAD9"	"OMIM:611126"	"Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:21"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.21497"	"2021-01-21"
"GENCC_000111-HGNC_89-OMIM_201450-HP_0000007-GENCC_100002"	"HGNC:89"	"ACADM"	"MONDO:0008721"	"medium chain acyl-CoA dehydrogenase deficiency"	"OMIM:201450"	"Acyl-CoA dehydrogenase, medium chain, deficiency of"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:89"	"ACADM"	"OMIM:201450"	"Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:22"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.89"	"2021-01-21"
"GENCC_000111-HGNC_90-OMIM_201470-HP_0000007-GENCC_100002"	"HGNC:90"	"ACADS"	"MONDO:0008722"	"short chain acyl-CoA dehydrogenase deficiency"	"OMIM:201470"	"Acyl-CoA dehydrogenase, short-chain, deficiency of"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:90"	"ACADS"	"OMIM:201470"	"Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:22"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.90"	"2021-01-21"
"GENCC_000111-HGNC_91-OMIM_610006-HP_0000007-GENCC_100002"	"HGNC:91"	"ACADSB"	"MONDO:0012392"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"OMIM:610006"	"2-methylbutyrylglycinuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:91"	"ACADSB"	"OMIM:610006"	"2-methylbutyrylglycinuria MIM#610006"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:22"	"https://panelapp.agha.umccr.org/panels/103/"	""	"11013134, 17945527, 30730842"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.91"	"2021-01-21"
"GENCC_000111-HGNC_92-OMIM_201475-HP_0000007-GENCC_100002"	"HGNC:92"	"ACADVL"	"MONDO:0008723"	"very long chain acyl-CoA dehydrogenase deficiency"	"OMIM:201475"	"VLCAD deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:92"	"ACADVL"	"OMIM:201475"	"VLCAD deficiency, MIM# 201475"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:22"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.92"	"2021-01-21"
"GENCC_000111-HGNC_93-OMIM_203750-HP_0000007-GENCC_100002"	"HGNC:93"	"ACAT1"	"MONDO:0008760"	"beta-ketothiolase deficiency"	"OMIM:203750"	"Alpha-methylacetoacetic aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:93"	"ACAT1"	"OMIM:203750"	"Alpha-methylacetoacetic aciduria MIM#203750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:22"	"https://panelapp.agha.umccr.org/panels/103/"	""	"17236799, 1715688"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.93"	"2021-01-21"
"GENCC_000111-HGNC_2328-OMIM_255120-HP_0000007-GENCC_100002"	"HGNC:2328"	"CPT1A"	"MONDO:0009705"	"carnitine palmitoyl transferase 1A deficiency"	"OMIM:255120"	"CPT deficiency, hepatic, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2328"	"CPT1A"	"OMIM:255120"	"CPT deficiency, hepatic, type IA, MIM# 255120"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:22"	"https://panelapp.agha.umccr.org/panels/103/"	""	"12189492"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.2328"	"2021-01-21"
"GENCC_000111-HGNC_2330-OMIM_600649-HP_0000007-GENCC_100002"	"HGNC:2330"	"CPT2"	"MONDO:0010914"	"carnitine palmitoyl transferase II deficiency, severe infantile form"	"OMIM:600649"	"CPT II deficiency, infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2330"	"CPT2"	"OMIM:600649"	"CPT II deficiency, infantile 600649"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:23"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.2330.1"	"2021-01-21"
"GENCC_000111-HGNC_2330-OMIM_608836-HP_0000007-GENCC_100002"	"HGNC:2330"	"CPT2"	"MONDO:0012136"	"carnitine palmitoyl transferase II deficiency, neonatal form"	"OMIM:608836"	"CPT II deficiency, lethal neonatal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2330"	"CPT2"	"OMIM:608836"	"CPT II deficiency, lethal neonatal 608836"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:23"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.2330.2"	"2021-01-21"
"GENCC_000111-HGNC_2330-OMIM_255110-HP_0000007-GENCC_100002"	"HGNC:2330"	"CPT2"	"MONDO:0009704"	"carnitine palmitoyl transferase II deficiency, myopathic form"	"OMIM:255110"	"CPT II deficiency, myopathic, stress-induced"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2330"	"CPT2"	"OMIM:255110"	"CPT II deficiency, myopathic, stress-induced 255110"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.2330.3"	"2021-01-21"
"GENCC_000111-HGNC_3151-OMIM_616277-HP_0000007-GENCC_100002"	"HGNC:3151"	"ECHS1"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"OMIM:616277"	"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3151"	"ECHS1"	"OMIM:616277"	"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"31399326, 25125611, 25393721"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.3151"	"2021-01-21"
"GENCC_000111-HGNC_3481-OMIM_231680-HP_0000007-GENCC_100002"	"HGNC:3481"	"ETFA"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"OMIM:231680"	"Glutaric acidemia IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3481"	"ETFA"	"OMIM:231680"	"Glutaric acidemia IIA, MIM# 231680"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.3481"	"2021-01-21"
"GENCC_000111-HGNC_3482-OMIM_231680-HP_0000007-GENCC_100002"	"HGNC:3482"	"ETFB"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"OMIM:231680"	"Glutaric acidemia IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3482"	"ETFB"	"OMIM:231680"	"Glutaric acidemia IIB, MIM# 231680"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.3482"	"2021-01-21"
"GENCC_000111-HGNC_3483-OMIM_231680-HP_0000007-GENCC_100002"	"HGNC:3483"	"ETFDH"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"OMIM:231680"	"Glutaric acidemia IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3483"	"ETFDH"	"OMIM:231680"	"Glutaric acidemia IIC, MIM# 231680"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.3483"	"2021-01-21"
"GENCC_000111-HGNC_24671-OMIM_255100-HP_0000007-GENCC_100003"	"HGNC:24671"	"FLAD1"	"MONDO:0009703"	"myopathy with abnormal lipid metabolism"	"OMIM:255100"	"Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24671"	"FLAD1"	"OMIM:255100"	"Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"25058219, 27259049, 16643857, 20060505"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.24671"	"2021-01-21"
"GENCC_000111-HGNC_4335-OMIM_606762-HP_0000007-GENCC_100002"	"HGNC:4335"	"GLUD1"	"MONDO:0011717"	"hyperinsulinism-hyperammonemia syndrome"	"OMIM:606762"	"Hyperinsulinism-hyperammonemia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4335"	"GLUD1"	"OMIM:606762"	"Hyperinsulinism-hyperammonemia syndrome, MIM# 606762"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"11214910, 11297618"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.4335"	"2021-01-21"
"GENCC_000111-HGNC_4799-MONDO_0009278-HP_0000007-GENCC_100002"	"HGNC:4799"	"HADH"	"MONDO:0009278"	"hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"	"MONDO:0009278"	"hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4799"	"HADH"	"MONDO:0009278"	"SCHAD deficiency, MONDO:0009278"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.4799"	"2021-01-21"
"GENCC_000111-HGNC_4801-OMIM_609016-HP_0000007-GENCC_100002"	"HGNC:4801"	"HADHA"	"MONDO:0012173"	"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"OMIM:609016"	"Fatty liver, acute, of pregnancy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4801"	"HADHA"	"OMIM:609016"	"LCHAD deficiency, MIM# 609016"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.4801"	"2021-01-21"
"GENCC_000111-HGNC_4803-OMIM_609015-HP_0000007-GENCC_100002"	"HGNC:4803"	"HADHB"	"MONDO:0012172"	"mitochondrial trifunctional protein deficiency"	"OMIM:609015"	"Mitochondrial trifunctional protein deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4803"	"HADHB"	"OMIM:609015"	"Trifunctional protein deficiency, MIM# 609015"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:24"	"https://panelapp.agha.umccr.org/panels/103/"	""	"30682426, 28515471"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.4803"	"2021-01-21"
"GENCC_000111-HGNC_5005-OMIM_246450-HP_0000007-GENCC_100002"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"OMIM:246450"	"HMG-CoA lyase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5005"	"HMGCL"	"OMIM:246450"	"HMG-CoA lyase deficiency, MIM# 246450"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"8617516"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.5005"	"2021-01-21"
"GENCC_000111-HGNC_5008-OMIM_605911-HP_0000007-GENCC_100002"	"HGNC:5008"	"HMGCS2"	"MONDO:0011614"	"3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	"OMIM:605911"	"HMG-CoA synthase-2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5008"	"HMGCS2"	"OMIM:605911"	"HMG-CoA synthase-2 deficiency, MIM# 605911"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"33045405"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.5008"	"2021-01-21"
"GENCC_000111-HGNC_13345-OMIM_268200-HP_0000007-GENCC_100002"	"HGNC:13345"	"LPIN1"	"MONDO:0009992"	"myoglobinuria, acute recurrent, autosomal recessive"	"OMIM:268200"	"Myoglobinuria, acute recurrent, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13345"	"LPIN1"	"OMIM:268200"	"Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"18817903, 32549891, 32522502, 32410653"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.13345"	"2021-01-21"
"GENCC_000111-HGNC_7150-OMIM_248360-HP_0000007-GENCC_100002"	"HGNC:7150"	"MLYCD"	"MONDO:0009556"	"malonic aciduria"	"OMIM:248360"	"Malonyl-CoA decarboxylase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7150"	"MLYCD"	"OMIM:248360"	"Malonyl-CoA decarboxylase deficiency, MIM# 248360"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"12955715"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.7150"	"2021-01-21"
"GENCC_000111-HGNC_26404-OMIM_616034-HP_0000007-GENCC_100002"	"HGNC:26404"	"NADK2"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"OMIM:616034"	"2,4-dienoyl-CoA reductase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26404"	"NADK2"	"OMIM:616034"	"2,4-dienoyl-CoA reductase deficiency, MIM# 616034"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"24847004, 27940755, 23212377, 28923496"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.26404"	"2021-01-21"
"GENCC_000111-HGNC_8527-OMIM_245050-HP_0000007-GENCC_100002"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"OMIM:245050"	"Succinyl CoA:3-oxoacid CoA transferase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8527"	"OXCT1"	"OMIM:245050"	"Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"8751852, 10964512, 28178565, 11757586, 8844009"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.8527"	"2021-01-21"
"GENCC_000111-HGNC_10969-OMIM_212140-HP_0000007-GENCC_100002"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"OMIM:212140"	"Carnitine deficiency, systemic primary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10969"	"SLC22A5"	"OMIM:212140"	"Carnitine deficiency, systemic primary, MIM# 212140"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.10969"	"2021-01-21"
"GENCC_000111-HGNC_1421-OMIM_212138-HP_0000007-GENCC_100002"	"HGNC:1421"	"SLC25A20"	"MONDO:0008918"	"carnitine-acylcarnitine translocase deficiency"	"OMIM:212138"	"Carnitine-acylcarnitine translocase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1421"	"SLC25A20"	"OMIM:212138"	"Carnitine-acylcarnitine translocase deficiency, MIM# 212138"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"15363639, 15365988, 24088670"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.1421"	"2021-01-21"
"GENCC_000111-HGNC_16187-OMIM_211530-HP_0000007-GENCC_100002"	"HGNC:16187"	"SLC52A3"	"MONDO:0024537"	"Brown-Vialetto-van Laere syndrome 1"	"OMIM:211530"	"Brown-Vialetto-Van Laere syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16187"	"SLC52A3"	"OMIM:211530"	"Brown-Vialetto-Van Laere syndrome 1, MIM# 211530"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-03 13:07:25"	"https://panelapp.agha.umccr.org/panels/103/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.103.16187"	"2021-01-21"
"GENCC_000111-HGNC_23-OMIM_613163-HP_0000007-GENCC_100004"	"HGNC:23"	"ABAT"	"MONDO:0013166"	"GABA aminotransaminase deficiency"	"OMIM:613163"	"GABA-transaminase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23"	"ABAT"	"OMIM:613163"	"GABA-transaminase deficiency, MIM# 613163"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-01-05 13:07:26"	"https://panelapp.agha.umccr.org/panels/89/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.23"	"2021-01-21"
"GENCC_000111-HGNC_360-OMIM_240300-HP_0000006-GENCC_100002"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:360"	"AIRE"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:26"	"https://panelapp.agha.umccr.org/panels/89/"	""	"9398839, 9837820, 16965330"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.360"	"2021-01-21"
"GENCC_000111-HGNC_360-OMIM_240300-HP_0000007-GENCC_100002"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:360"	"AIRE"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:26"	"https://panelapp.agha.umccr.org/panels/89/"	""	"9398839, 9837820, 16965330"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.360"	"2021-01-21"
"GENCC_000111-HGNC_603-OMIM_615558-HP_0000007-GENCC_100002"	"HGNC:603"	"APOB"	"MONDO:0014252"	"familial hypobetalipoproteinemia 1"	"OMIM:615558"	"Hypobetalipoproteinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:603"	"APOB"	"OMIM:615558"	"Hypobetalipoproteinemia, MIM# 615558"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:27"	"https://panelapp.agha.umccr.org/panels/89/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.603"	"2021-01-21"
"GENCC_000111-HGNC_2843-OMIM_615863-HP_0000007-GENCC_100002"	"HGNC:2843"	"DGAT1"	"MONDO:0014375"	"congenital diarrhea 7 with exudative enteropathy"	"OMIM:615863"	"Diarrhea 7, protein-losing enteropathy type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2843"	"DGAT1"	"OMIM:615863"	"Diarrhoea 7, protein-losing enteropathy type, MIM# 615863"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:28"	"https://panelapp.agha.umccr.org/panels/89/"	""	"33261563, 32786057, 31778854, 28373485, 29604290"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.2843"	"2021-01-21"
"GENCC_000111-HGNC_11529-OMIM_613217-HP_0000007-GENCC_100002"	"HGNC:11529"	"EPCAM"	"MONDO:0013184"	"congenital diarrhea 5 with tufting enteropathy"	"OMIM:613217"	"Diarrhea 5, with tufting enteropathy, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11529"	"EPCAM"	"OMIM:613217"	"Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:28"	"https://panelapp.agha.umccr.org/panels/89/"	""	"24142340"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.11529"	"2021-01-21"
"GENCC_000111-HGNC_4688-OMIM_614616-HP_0000006-GENCC_100002"	"HGNC:4688"	"GUCY2C"	"MONDO:0013825"	"congenital diarrhea 6"	"OMIM:614616"	"Diarrhea 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4688"	"GUCY2C"	"OMIM:614616"	"Diarrhoea 6, MIM# 614616"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:28"	"https://panelapp.agha.umccr.org/panels/89/"	""	"22521417, 22436048, 25994218, 30353760, 28957388"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.4688"	"2021-01-21"
"GENCC_000111-HGNC_6530-OMIM_223000-HP_0000007-GENCC_100002"	"HGNC:6530"	"LCT"	"MONDO:0009115"	"congenital lactase deficiency"	"OMIM:223000"	"Lactase deficiency, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6530"	"LCT"	"OMIM:223000"	"Lactase deficiency, congenital, MIM# 223000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:28"	"https://panelapp.agha.umccr.org/panels/89/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.6530"	"2021-01-21"
"GENCC_000111-HGNC_7467-OMIM_200100-HP_0000007-GENCC_100002"	"HGNC:7467"	"MTTP"	"MONDO:0008692"	"abetalipoproteinemia"	"OMIM:200100"	"Abetalipoproteinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7467"	"MTTP"	"OMIM:200100"	"Abetalipoproteinemia, MIM# 200100"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:29"	"https://panelapp.agha.umccr.org/panels/89/"	""	"17275380"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.7467"	"2021-01-21"
"GENCC_000111-HGNC_7603-OMIM_251850-HP_0000007-GENCC_100002"	"HGNC:7603"	"MYO5B"	"MONDO:0009635"	"microvillus inclusion disease"	"OMIM:251850"	"Diarrhea 2, with microvillus atrophy, with or without cholestasis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7603"	"MYO5B"	"OMIM:251850"	"Microvillus inclusion disease, MIM# 251850"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:29"	"https://panelapp.agha.umccr.org/panels/89/"	""	"30564347, 29266534"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.7603"	"2021-01-21"
"GENCC_000111-HGNC_13806-OMIM_610370-HP_0000007-GENCC_100002"	"HGNC:13806"	"NEUROG3"	"MONDO:0012479"	"congenital malabsorptive diarrhea 4"	"OMIM:610370"	"Diarrhea 4, malabsorptive, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13806"	"NEUROG3"	"OMIM:610370"	"Diarrhoea 4, malabsorptive, congenital, MIM# 610370"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:29"	"https://panelapp.agha.umccr.org/panels/89/"	""	"16855267, 32574610, 28724572, 21490072"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.13806"	"2021-01-21"
"GENCC_000111-HGNC_8743-OMIM_600955-HP_0000007-GENCC_100002"	"HGNC:8743"	"PCSK1"	"MONDO:0010961"	"obesity due to prohormone convertase I deficiency"	"OMIM:600955"	"Endocrinopathy due to proprotein convertase 1/3 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8743"	"PCSK1"	"OMIM:600955"	"Obesity with impaired prohormone processing, MIM# 600955"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:29"	"https://panelapp.agha.umccr.org/panels/89/"	""	"14617756, 17595246"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.8743"	"2021-01-21"
"GENCC_000111-HGNC_13635-OMIM_618183-HP_0000007-GENCC_100002"	"HGNC:13635"	"PLVAP"	"MONDO:0032586"	"diarrhea 10, protein-losing enteropathy type"	"OMIM:618183"	"Diarrhea 10, protein-losing enteropathy type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13635"	"PLVAP"	"OMIM:618183"	"Diarrhoea 10, protein-losing enteropathy type, MIM# 618183"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:29"	"https://panelapp.agha.umccr.org/panels/89/"	""	"29875123, 29661969, 26207260, 31215290"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.13635"	"2021-01-21"
"GENCC_000111-HGNC_10535-OMIM_246700-HP_0000007-GENCC_100002"	"HGNC:10535"	"SAR1B"	"MONDO:0009528"	"chylomicron retention disease"	"OMIM:246700"	"Chylomicron retention disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10535"	"SAR1B"	"OMIM:246700"	"Chylomicron retention disease, MIM# 246700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:30"	"https://panelapp.agha.umccr.org/panels/89/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.10535"	"2021-01-21"
"GENCC_000111-HGNC_19440-OMIM_260400-HP_0000007-GENCC_100002"	"HGNC:19440"	"SBDS"	"MONDO:0044204"	"Shwachman-Diamond syndrome 1"	"OMIM:260400"	"Shwachman-Diamond syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:19440"	"SBDS"	"OMIM:260400"	"Shwachman-Diamond syndrome, MIM# 260400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:30"	"https://panelapp.agha.umccr.org/panels/89/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.19440"	"2021-01-21"
"GENCC_000111-HGNC_10856-OMIM_222900-HP_0000007-GENCC_100002"	"HGNC:10856"	"SI"	"MONDO:0009114"	"congenital sucrase-isomaltase deficiency"	"OMIM:222900"	"Sucrase-isomaltase deficiency, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10856"	"SI"	"OMIM:222900"	"Sucrase-isomaltase deficiency, congenital, MIM# 222900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:30"	"https://panelapp.agha.umccr.org/panels/89/"	""	"16329100"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.10856"	"2021-01-21"
"GENCC_000111-HGNC_10898-OMIM_614602-HP_0000007-GENCC_100002"	"HGNC:10898"	"SKIC2"	"MONDO:0013818"	"trichohepatoenteric syndrome 2"	"OMIM:614602"	"Trichohepatoenteric syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10898"	"SKIV2L"	"OMIM:614602"	"Trichohepatoenteric syndrome 2, MIM# 614602"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:31"	"https://panelapp.agha.umccr.org/panels/89/"	""	"22444670, 33114497, 30397475, 29527791, 29484573"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.10898"	"2021-01-21"
"GENCC_000111-HGNC_10906-OMIM_613291-HP_0000007-GENCC_100004"	"HGNC:10906"	"SLC10A2"	"MONDO:0013214"	"bile acid malabsorption, primary, 1"	"OMIM:613291"	"?Bile acid malabsorption, primary, 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10906"	"SLC10A2"	"OMIM:613291"	"Bile acid malabsorption, primary, MIM# 613291"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-01-05 13:07:31"	"https://panelapp.agha.umccr.org/panels/89/"	""	"9109432"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.10906"	"2021-01-21"
"GENCC_000111-HGNC_3018-OMIM_214700-HP_0000007-GENCC_100002"	"HGNC:3018"	"SLC26A3"	"MONDO:0008964"	"congenital secretory chloride diarrhea 1"	"OMIM:214700"	"Diarrhea 1, secretory chloride, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3018"	"SLC26A3"	"OMIM:214700"	"Diarrhoea 1, secretory chloride, congenital, MIM# 214700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:32"	"https://panelapp.agha.umccr.org/panels/89/"	""	"31325522, 19861545, 11524734"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.3018"	"2021-01-21"
"GENCC_000111-HGNC_11006-OMIM_227810-HP_0000007-GENCC_100002"	"HGNC:11006"	"SLC2A2"	"MONDO:0009216"	"glycogen storage disease due to GLUT2 deficiency"	"OMIM:227810"	"Fanconi-Bickel syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11006"	"SLC2A2"	"OMIM:227810"	"Fanconi-Bickel syndrome (MIM#227810)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:23"	"https://panelapp.agha.umccr.org/panels/106/"	""	"30950137, 22145468"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.11006"	"2021-03-09"
"GENCC_000111-HGNC_17129-OMIM_201100-HP_0000007-GENCC_100002"	"HGNC:17129"	"SLC39A4"	"MONDO:0008713"	"acrodermatitis enteropathica"	"OMIM:201100"	"Acrodermatitis enteropathica"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17129"	"SLC39A4"	"OMIM:201100"	"Acrodermatitis enteropathica (MIM#201100)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:29"	"https://panelapp.agha.umccr.org/panels/101/"	""	"19370757"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.17129"	"2021-03-09"
"GENCC_000111-HGNC_11036-OMIM_606824-HP_0000007-GENCC_100002"	"HGNC:11036"	"SLC5A1"	"MONDO:0011731"	"glucose-galactose malabsorption"	"OMIM:606824"	"Glucose/galactose malabsorption"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11036"	"SLC5A1"	"OMIM:606824"	"Glucose/galactose malabsorption, MIM# 606824"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:33"	"https://panelapp.agha.umccr.org/panels/89/"	""	"20486940, 32946683"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.11036"	"2021-01-21"
"GENCC_000111-HGNC_11065-OMIM_222700-HP_0000007-GENCC_100002"	"HGNC:11065"	"SLC7A7"	"MONDO:0009109"	"lysinuric protein intolerance"	"OMIM:222700"	"Lysinuric protein intolerance"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11065"	"SLC7A7"	"OMIM:222700"	"Lysinuric protein intolerance, MIM# 222700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:33"	"https://panelapp.agha.umccr.org/panels/89/"	""	"10080182, 18716612"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.11065"	"2021-01-21"
"GENCC_000111-HGNC_11073-OMIM_616868-HP_0000007-GENCC_100002"	"HGNC:11073"	"SLC9A3"	"MONDO:0014808"	"congenital secretory sodium diarrhea 8"	"OMIM:616868"	"Diarrhea 8, secretory sodium, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11073"	"SLC9A3"	"OMIM:616868"	"Diarrhoea 8, secretory sodium, congenital 616868"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:34"	"https://panelapp.agha.umccr.org/panels/89/"	""	"30633106, 31276831, 26358773"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.11073"	"2021-01-21"
"GENCC_000111-HGNC_11247-OMIM_270420-HP_0000007-GENCC_100002"	"HGNC:11247"	"SPINT2"	"MONDO:0010036"	"congenital secretory sodium diarrhea 3"	"OMIM:270420"	"Diarrhea 3, secretory sodium, congenital, syndromic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11247"	"SPINT2"	"OMIM:270420"	"Diarrhoea 3, secretory sodium, congenital, syndromic 270420"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:34"	"https://panelapp.agha.umccr.org/panels/89/"	""	"24142340, 30445423"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.11247"	"2021-01-21"
"GENCC_000111-HGNC_9490-OMIM_226200-HP_0000007-GENCC_100002"	"HGNC:9490"	"TMPRSS15"	"MONDO:0009173"	"congenital enteropathy due to enteropeptidase deficiency"	"OMIM:226200"	"Enterokinase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9490"	"TMPRSS15"	"OMIM:226200"	"Enterokinase deficiency, MIM# 226200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:35"	"https://panelapp.agha.umccr.org/panels/89/"	""	"11719902, 33061943"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.9490"	"2021-01-21"
"GENCC_000111-HGNC_23639-OMIM_222470-HP_0000007-GENCC_100002"	"HGNC:23639"	"SKIC3"	"MONDO:0024541"	"trichohepatoenteric syndrome 1"	"OMIM:222470"	"Trichohepatoenteric syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23639"	"TTC37"	"OMIM:222470"	"Trichohepatoenteric syndrome 1, MIM# 222470"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:35"	"https://panelapp.agha.umccr.org/panels/89/"	""	"20176027, 17318842"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.23639"	"2021-01-21"
"GENCC_000111-HGNC_12781-OMIM_618168-HP_0000007-GENCC_100002"	"HGNC:12781"	"WNT2B"	"MONDO:0032575"	"diarrhea 9"	"OMIM:618168"	"Diarrhea 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12781"	"WNT2B"	"OMIM:618168"	"Diarrhoea 9, MIM# 618168"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-05 13:07:36"	"https://panelapp.agha.umccr.org/panels/89/"	""	"29909964"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.89.12781"	"2021-01-21"
"GENCC_000111-HGNC_23228-OMIM_617319-HP_0000007-GENCC_100002"	"HGNC:23228"	"CPAMD8"	"MONDO:0015017"	"anterior segment dysgenesis 8"	"OMIM:617319"	"Anterior segment dysgenesis 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23228"	"CPAMD8"	"OMIM:617319"	"Anterior segment dysgenesis 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-29 13:07:37"	"https://panelapp.agha.umccr.org/panels/43/"	""	"32274568"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.43.23228"	"2020-12-30"
"GENCC_000111-HGNC_2597-OMIM_617315-HP_0000006-GENCC_100002"	"HGNC:2597"	"CYP1B1"	"MONDO:0015016"	"anterior segment dysgenesis 6"	"OMIM:617315"	"Anterior segment dysgenesis 6, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2597"	"CYP1B1"	"OMIM:617315"	"Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-29 13:07:38"	"https://panelapp.agha.umccr.org/panels/43/"	""	"32499604, 32224865"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.43.2597"	"2020-12-30"
"GENCC_000111-HGNC_3800-OMIM_602482-HP_0000006-GENCC_100002"	"HGNC:3800"	"FOXC1"	"MONDO:0011233"	"Axenfeld-Rieger syndrome type 3"	"OMIM:602482"	"Axenfeld-Rieger syndrome, type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3800"	"FOXC1"	"OMIM:602482"	"Axenfeld-Rieger syndrome, type 3, MIM# 602482"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-29 13:07:38"	"https://panelapp.agha.umccr.org/panels/43/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.43.3800"	"2020-12-30"
"GENCC_000111-HGNC_6180-OMIM_206700-HP_0000006-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"OMIM:206700"	"Gillespie syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6180"	"ITPR1"	"OMIM:206700"	"Gillespie syndrome, MIM# 206700"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:42"	"https://panelapp.agha.umccr.org/panels/72/"	""	"27108797, 31340402, 30242502, 29169895"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.6180"	"2021-03-09"
"GENCC_000111-HGNC_6180-OMIM_206700-HP_0000007-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"OMIM:206700"	"Gillespie syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6180"	"ITPR1"	"OMIM:206700"	"Gillespie syndrome, MIM# 206700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:42"	"https://panelapp.agha.umccr.org/panels/72/"	""	"27108797, 31340402, 30242502, 29169895"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.6180"	"2021-03-09"
"GENCC_000111-HGNC_6188-OMIM_118450-HP_0000006-GENCC_100002"	"HGNC:6188"	"JAG1"	"MONDO:0016862"	"Alagille syndrome due to a JAG1 point mutation"	"OMIM:118450"	"Alagille syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6188"	"JAG1"	"OMIM:118450"	"Alagille syndrome 118450"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-29 13:07:38"	"https://panelapp.agha.umccr.org/panels/43/"	""	"21730847, 10051485, 18097983, 9951486"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.43.6188"	"2020-12-30"
"GENCC_000111-HGNC_6487-OMIM_609049-HP_0000007-GENCC_100002"	"HGNC:6487"	"LAMB2"	"MONDO:0012184"	"Pierson syndrome"	"OMIM:609049"	"Pierson syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6487"	"LAMB2"	"OMIM:609049"	"Pierson syndrome 609049"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-29 13:07:39"	"https://panelapp.agha.umccr.org/panels/43/"	""	"21730847, 18672223, 15367484, 20556798"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.43.6487"	"2020-12-30"
"GENCC_000111-HGNC_8620-OMIM_604229-HP_0000006-GENCC_100002"	"HGNC:8620"	"PAX6"	"MONDO:0011414"	"Peters anomaly"	"OMIM:604229"	"Anterior segment dysgenesis 5, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8620"	"PAX6"	"OMIM:604229"	"Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-29 13:07:39"	"https://panelapp.agha.umccr.org/panels/43/"	""	"27081561, 20132240, 26899008"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.43.8620"	"2020-12-30"
"GENCC_000111-HGNC_9005-OMIM_180500-HP_0000006-GENCC_100002"	"HGNC:9005"	"PITX2"	"MONDO:0008386"	"Axenfeld-Rieger syndrome type 1"	"OMIM:180500"	"Axenfeld-Rieger syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9005"	"PITX2"	"OMIM:180500"	"Axenfeld-Rieger syndrome, type 1, MIM# 180500"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-29 13:07:39"	"https://panelapp.agha.umccr.org/panels/43/"	""	"32499604, 32400113, 31341655, 31185933, 30457409"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.43.9005"	"2020-12-30"
"GENCC_000111-HGNC_9006-OMIM_107250-HP_0000006-GENCC_100002"	"HGNC:9006"	"PITX3"	"MONDO:0007138"	"anterior segment dysgenesis 1"	"OMIM:107250"	"Anterior segment dysgenesis 1, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9006"	"PITX3"	"OMIM:107250"	"Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:08"	"https://panelapp.agha.umccr.org/panels/42/"	""	"29405783"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.9006"	"2020-12-30"
"GENCC_000111-HGNC_14966-OMIM_269400-HP_0000007-GENCC_100002"	"HGNC:14966"	"PXDN"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"OMIM:269400"	"Anterior segment dysgenesis 7, with sclerocornea"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14966"	"PXDN"	"OMIM:269400"	"Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:09"	"https://panelapp.agha.umccr.org/panels/42/"	""	"21907015, 24939590, 32499604, 32224865, 32015378, 31817535"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.14966"	"2020-12-30"
"GENCC_000111-HGNC_329-OMIM_615120-HP_0000007-GENCC_100002"	"HGNC:329"	"AGRN"	"MONDO:0014052"	"congenital myasthenic syndrome 8"	"OMIM:615120"	"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:329"	"AGRN"	"OMIM:615120"	"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"19631309, 22205389, 32221959"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.329"	"2020-12-30"
"GENCC_000111-HGNC_28287-OMIM_616227-HP_0000007-GENCC_100002"	"HGNC:28287"	"ALG14"	"MONDO:0014542"	"congenital myasthenic syndrome 15"	"OMIM:616227"	"?Myasthenic syndrome, congenital, 15, without tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:28287"	"ALG14"	"OMIM:616227"	"Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"23404334, 28733338"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.28287"	"2020-12-30"
"GENCC_000111-HGNC_23159-OMIM_616228-HP_0000007-GENCC_100003"	"HGNC:23159"	"ALG2"	"MONDO:0014543"	"congenital myasthenic syndrome 14"	"OMIM:616228"	"Myasthenic syndrome, congenital, 14, with tubular aggregates"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23159"	"ALG2"	"OMIM:616228"	"Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"23404334, 24461433"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.23159"	"2020-12-30"
"GENCC_000111-HGNC_1912-OMIM_254210-HP_0000007-GENCC_100002"	"HGNC:1912"	"CHAT"	"MONDO:0009689"	"congenital myasthenic syndrome 6"	"OMIM:254210"	"Myasthenic syndrome, congenital, 6, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1912"	"CHAT"	"OMIM:254210"	"Myasthenic syndrome, congenital, 6, presynaptic, 254210"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"11172068, 12756141, 31192527, 29518833, 29189923"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1912"	"2020-12-30"
"GENCC_000111-HGNC_1955-OMIM_601462-HP_0000006-GENCC_100002"	"HGNC:1955"	"CHRNA1"	"MONDO:0011088"	"congenital myasthenic syndrome 1A"	"OMIM:601462"	"Myasthenic syndrome, congenital, 1A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1955"	"CHRNA1"	"OMIM:601462"	"Myasthenic syndrome, congenital, 1A, slow-channel, 601462"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1955"	"2020-12-30"
"GENCC_000111-HGNC_1955-OMIM_608930-HP_0000007-GENCC_100002"	"HGNC:1955"	"CHRNA1"	"MONDO:0012156"	"myasthenic syndrome, congenital, 1B, fast-channel"	"OMIM:608930"	"Myasthenic syndrome, congenital, 1B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1955"	"CHRNA1"	"OMIM:608930"	"Myasthenic syndrome, congenital, 1B, fast-channel, 608930"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1955"	"2020-12-30"
"GENCC_000111-HGNC_1961-OMIM_601462-HP_0000006-GENCC_100002"	"HGNC:1961"	"CHRNB1"	"MONDO:0011088"	"congenital myasthenic syndrome 1A"	"OMIM:601462"	"Myasthenic syndrome, congenital, 1A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1961"	"CHRNB1"	"OMIM:601462"	"Myasthenic syndrome, slow-channel congenital, 601462"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"8872460, 8651643, 27375219, 32504635, 10562302"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1961"	"2020-12-30"
"GENCC_000111-HGNC_1961-OMIM_616314-HP_0000007-GENCC_100002"	"HGNC:1961"	"CHRNB1"	"MONDO:0014582"	"congenital myasthenic syndrome 2C"	"OMIM:616314"	"?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1961"	"CHRNB1"	"OMIM:616314"	"Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"8872460, 8651643, 27375219, 32504635, 10562302"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1961"	"2020-12-30"
"GENCC_000111-HGNC_1965-OMIM_616321-HP_0000006-GENCC_100002"	"HGNC:1965"	"CHRND"	"MONDO:0014583"	"congenital myasthenic syndrome 3A"	"OMIM:616321"	"?Myasthenic syndrome, congenital, 3A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1965"	"CHRND"	"OMIM:616321"	"Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:40"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"16916845, 11435464, 12499478, 18398509, 11782989"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1965"	"2020-12-30"
"GENCC_000111-HGNC_1965-OMIM_616322-HP_0000007-GENCC_100002"	"HGNC:1965"	"CHRND"	"MONDO:0014584"	"congenital myasthenic syndrome 3B"	"OMIM:616322"	"Myasthenic syndrome, congenital, 3B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1965"	"CHRND"	"OMIM:616322"	"Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"16916845, 11435464, 12499478, 18398509, 11782989"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1965"	"2020-12-30"
"GENCC_000111-HGNC_1966-OMIM_605809-HP_0000006-GENCC_100002"	"HGNC:1966"	"CHRNE"	"MONDO:0011600"	"congenital myasthenic syndrome 4A"	"OMIM:605809"	"Myasthenic syndrome, congenital, 4A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1966"	"CHRNE"	"OMIM:605809"	"Myasthenic syndrome, congenital, 4A, slow-channel, 605809"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"8755487, 8957026, 11030414, 12417530, 32727330, 32070632, 31773638"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1966"	"2020-12-30"
"GENCC_000111-HGNC_1966-OMIM_616324-HP_0000007-GENCC_100002"	"HGNC:1966"	"CHRNE"	"MONDO:0014586"	"congenital myasthenic syndrome 4B"	"OMIM:616324"	"Myasthenic syndrome, congenital, 4B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1966"	"CHRNE"	"OMIM:616324"	"Myasthenic syndrome, congenital, 4B, fast-channel, 616324"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"8755487, 8957026, 11030414, 12417530, 32727330, 32070632, 31773638"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1966"	"2020-12-30"
"GENCC_000111-HGNC_1967-OMIM_253290-HP_0000007-GENCC_100002"	"HGNC:1967"	"CHRNG"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"OMIM:253290"	"Multiple pterygium syndrome, lethal type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1967"	"CHRNG"	"OMIM:253290"	"Multiple pterygium syndrome, lethal type, MIM# 253290"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"22167768"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.1967"	"2020-12-30"
"GENCC_000111-HGNC_2190-OMIM_616720-HP_0000007-GENCC_100002"	"HGNC:2190"	"COL13A1"	"MONDO:0014745"	"congenital myasthenic syndrome 19"	"OMIM:616720"	"Myasthenic syndrome, congenital, 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2190"	"COL13A1"	"OMIM:616720"	"Myasthenic syndrome, congenital, 19, 616720"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"31081514, 28369367, 20844119"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.2190"	"2020-12-30"
"GENCC_000111-HGNC_2226-OMIM_603034-HP_0000007-GENCC_100002"	"HGNC:2226"	"COLQ"	"MONDO:0011281"	"congenital myasthenic syndrome 5"	"OMIM:603034"	"Myasthenic syndrome, congenital, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2226"	"COLQ"	"OMIM:603034"	"Myasthenic syndrome, congenital, 5, MIM# 603034"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"9689136, 9758617, 11865139, 32978031, 31831253"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.2226"	"2020-12-30"
"GENCC_000111-HGNC_26594-OMIM_254300-HP_0000007-GENCC_100002"	"HGNC:26594"	"DOK7"	"MONDO:0009690"	"congenital myasthenic syndrome 10"	"OMIM:254300"	"Myasthenic syndrome, congenital, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26594"	"DOK7"	"OMIM:254300"	"Myasthenic syndrome, congenital, 10, 254300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.26594"	"2020-12-30"
"GENCC_000111-HGNC_2995-OMIM_614750-HP_0000007-GENCC_100002"	"HGNC:2995"	"DPAGT1"	"MONDO:0013883"	"congenital myasthenic syndrome 13"	"OMIM:614750"	"Myasthenic syndrome, congenital, 13, with tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2995"	"DPAGT1"	"OMIM:614750"	"Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"22742743, 29356258, 28712839, 28662078"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.2995"	"2020-12-30"
"GENCC_000111-HGNC_4241-OMIM_610542-HP_0000007-GENCC_100002"	"HGNC:4241"	"GFPT1"	"MONDO:0012518"	"congenital myasthenic syndrome 12"	"OMIM:610542"	"Myasthenia, congenital, 12, with tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4241"	"GFPT1"	"OMIM:610542"	"c(""Myasthenia, congenital, 12, with tubular aggregates, 610542"", ""Limb-girdle congenital myasthenic syndrome"")"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:41"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"21310273, 30635494"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.4241"	"2020-12-30"
"GENCC_000111-HGNC_22932-OMIM_615352-HP_0000007-GENCC_100002"	"HGNC:22932"	"GMPPB"	"MONDO:0014142"	"autosomal recessive limb-girdle muscular dystrophy type 2T"	"OMIM:615352"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:22932"	"GMPPB"	"OMIM:615352"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:42"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.22932"	"2020-12-30"
"GENCC_000111-HGNC_6696-OMIM_616304-HP_0000007-GENCC_100002"	"HGNC:6696"	"LRP4"	"MONDO:0014578"	"congenital myasthenic syndrome 17"	"OMIM:616304"	"?Myasthenic syndrome, congenital, 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6696"	"LRP4"	"OMIM:616304"	"Myasthenic syndrome, congenital, 17, 616304"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:42"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"24234652, 26052878, 24200689"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.6696"	"2020-12-30"
"GENCC_000111-HGNC_7525-OMIM_616325-HP_0000007-GENCC_100002"	"HGNC:7525"	"MUSK"	"MONDO:0014587"	"congenital myasthenic syndrome 9"	"OMIM:616325"	"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7525"	"MUSK"	"OMIM:616325"	"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:42"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"15496425, 19949040, 20371544, 32253145"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.7525"	"2020-12-30"
"GENCC_000111-HGNC_7608-OMIM_618198-HP_0000007-GENCC_100002"	"HGNC:7608"	"MYO9A"	"MONDO:0032597"	"myasthenic syndrome, congenital, 24, presynaptic"	"OMIM:618198"	"Myasthenic syndrome, congenital, 24, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7608"	"MYO9A"	"OMIM:618198"	"Congenital myasthenic syndrome 24, presynaptic 618198"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:42"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"26752647, 27259756"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.7608"	"2020-12-30"
"GENCC_000111-HGNC_9069-OMIM_226670-HP_0000007-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0009181"	"epidermolysis bullosa simplex 5B, with muscular dystrophy"	"OMIM:226670"	"Epidermolysis bullosa simplex 5B, with muscular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9069"	"PLEC"	"OMIM:226670"	"Epidermolysis bullosa simplex with muscular dystrophy	"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:42"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"31509265, 21263134, 20624679"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.9069"	"2020-12-30"
"GENCC_000111-HGNC_30228-OMIM_616224-HP_0000007-GENCC_100003"	"HGNC:30228"	"PREPL"	"MONDO:0044299"	"myasthenic syndrome, congenital, 22"	"OMIM:616224"	"Myasthenic syndrome, congenital, 22"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30228"	"PREPL"	"OMIM:616224"	"Myasthenic syndrome, congenital, 22, 616224"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-10-26 13:07:43"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"29483676, 28726805, 24610330, 27472506"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.30228"	"2020-12-30"
"GENCC_000111-HGNC_9863-OMIM_616326-HP_0000007-GENCC_100002"	"HGNC:9863"	"RAPSN"	"MONDO:0014588"	"congenital myasthenic syndrome 11"	"OMIM:616326"	"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9863"	"RAPSN"	"OMIM:616326"	"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:43"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"11791205, 14504330, 20930056, 25194721"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.9863"	"2020-12-30"
"GENCC_000111-HGNC_10591-OMIM_614198-HP_0000007-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0013620"	"congenital myasthenic syndrome 16"	"OMIM:614198"	"Myasthenic syndrome, congenital, 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10591"	"SCN4A"	"OMIM:614198"	"Myasthenic syndrome, congenital, 16, 614198"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:43"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"12766226, 25707578, 32849172"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.10591"	"2020-12-30"
"GENCC_000111-HGNC_10936-OMIM_617239-HP_0000007-GENCC_100002"	"HGNC:10936"	"SLC18A3"	"MONDO:0014983"	"congenital myasthenic syndrome 21"	"OMIM:617239"	"Myasthenic syndrome, congenital, 21, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10936"	"SLC18A3"	"OMIM:617239"	"Myasthenic syndrome, congenital, 21, presynaptic, 617239"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:43"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"27590285, 20123977, 28188302, 31059209"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.10936"	"2020-12-30"
"GENCC_000111-HGNC_10979-OMIM_618197-HP_0000007-GENCC_100002"	"HGNC:10979"	"SLC25A1"	"MONDO:0032596"	"myasthenic syndrome, congenital, 23, presynaptic"	"OMIM:618197"	"Myasthenic syndrome, congenital, 23, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10979"	"SLC25A1"	"OMIM:618197"	"Myasthenic syndrome, congenital, 23, presynaptic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:43"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"26870663, 31527857"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.10979"	"2020-12-30"
"GENCC_000111-HGNC_14025-OMIM_617143-HP_0000007-GENCC_100002"	"HGNC:14025"	"SLC5A7"	"MONDO:0014939"	"congenital myasthenic syndrome 20"	"OMIM:617143"	"Myasthenic syndrome, congenital, 20, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14025"	"SLC5A7"	"OMIM:617143"	"Myasthenic syndrome, congenital, 20, presynaptic, 617143"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:43"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"27569547, 29189923, 30172469"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.14025"	"2020-12-30"
"GENCC_000111-HGNC_11132-OMIM_616330-HP_0000006-GENCC_100004"	"HGNC:11132"	"SNAP25"	"MONDO:0014590"	"congenital myasthenic syndrome 18"	"OMIM:616330"	"?Myasthenic syndrome, congenital, 18"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11132"	"SNAP25"	"OMIM:616330"	"Myasthenic syndrome, congenital, 18,  616330"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-10-26 13:07:44"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"25381298"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.11132"	"2020-12-30"
"GENCC_000111-HGNC_11510-OMIM_616040-HP_0000006-GENCC_100002"	"HGNC:11510"	"SYT2"	"MONDO:0014468"	"congenital myasthenic syndrome 7"	"OMIM:616040"	"Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11510"	"SYT2"	"OMIM:616040"	"Myasthenic syndrome, congenital, 7, presynaptic, 616040"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:44"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"25192047, 32776697, 32250532, 30533528"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.11510"	"2020-12-30"
"GENCC_000111-HGNC_11510-OMIM_616040-HP_0000007-GENCC_100002"	"HGNC:11510"	"SYT2"	"MONDO:0014468"	"congenital myasthenic syndrome 7"	"OMIM:616040"	"Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11510"	"SYT2"	"OMIM:616040"	"Myasthenic syndrome, congenital, 7, presynaptic, 616040"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:44"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"25192047, 32776697, 32250532, 30533528"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.11510"	"2020-12-30"
"GENCC_000111-HGNC_12642-OMIM_618323-HP_0000007-GENCC_100002"	"HGNC:12642"	"VAMP1"	"MONDO:0032675"	"myasthenic syndrome, congenital, 25, presynaptic"	"OMIM:618323"	"Myasthenic syndrome, congenital, 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12642"	"VAMP1"	"OMIM:618323"	"c(""presynaptic CMS"", ""Myasthenic syndrome, congenital, 25, MIM# 618323"")"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-10-26 13:07:44"	"https://panelapp.agha.umccr.org/panels/3078/"	""	"28168212, 28253535, 28600779, 17102983"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3078.12642"	"2020-12-30"
"GENCC_000111-HGNC_18294-OMIM_608540-HP_0000007-GENCC_100002"	"HGNC:18294"	"ALG1"	"MONDO:0012052"	"ALG1-congenital disorder of glycosylation"	"OMIM:608540"	"Congenital disorder of glycosylation, type Ik"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18294"	"ALG1"	"OMIM:608540"	"Congenital disorder of glycosylation, type Ik 608540"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:45"	"https://panelapp.agha.umccr.org/panels/68/"	""	"26931382"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.18294"	"2020-12-24"
"GENCC_000111-HGNC_32456-OMIM_613661-HP_0000007-GENCC_100002"	"HGNC:32456"	"ALG11"	"MONDO:0013349"	"ALG11-congenital disorder of glycosylation"	"OMIM:613661"	"Congenital disorder of glycosylation, type Ip"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:32456"	"ALG11"	"OMIM:613661"	"Congenital disorder of glycosylation, type Ip, MIM# 613661"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:46"	"https://panelapp.agha.umccr.org/panels/68/"	""	"30676690"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.32456"	"2020-12-24"
"GENCC_000111-HGNC_19358-OMIM_607143-HP_0000007-GENCC_100002"	"HGNC:19358"	"ALG12"	"MONDO:0011783"	"ALG12-congenital disorder of glycosylation"	"OMIM:607143"	"Congenital disorder of glycosylation, type Ig"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:19358"	"ALG12"	"OMIM:607143"	"Congenital disorder of glycosylation, type Ig 607143"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:46"	"https://panelapp.agha.umccr.org/panels/68/"	""	"31481313"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.19358"	"2020-12-24"
"GENCC_000111-HGNC_23159-OMIM_607906-HP_0000007-GENCC_100004"	"HGNC:23159"	"ALG2"	"MONDO:0011933"	"ALG2-congenital disorder of glycosylation"	"OMIM:607906"	"Congenital disorder of glycosylation, type Ii"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23159"	"ALG2"	"OMIM:607906"	"Congenital disorder of glycosylation, type Ii (MIM# 607906)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-12-22 13:07:47"	"https://panelapp.agha.umccr.org/panels/68/"	""	"12684507, 23404334, 24461433"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.23159"	"2020-12-24"
"GENCC_000111-HGNC_23056-OMIM_601110-HP_0000007-GENCC_100002"	"HGNC:23056"	"ALG3"	"MONDO:0010998"	"ALG3-congenital disorder of glycosylation"	"OMIM:601110"	"Congenital disorder of glycosylation, type Id"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23056"	"ALG3"	"OMIM:601110"	"Congenital disorder of glycosylation, type Id, MIM# 601110"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:47"	"https://panelapp.agha.umccr.org/panels/68/"	""	"31067009"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.23056"	"2020-12-24"
"GENCC_000111-HGNC_23157-OMIM_603147-HP_0000007-GENCC_100002"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"OMIM:603147"	"Congenital disorder of glycosylation, type Ic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23157"	"ALG6"	"OMIM:603147"	"Congenital disorder of glycosylation, type Ic (MIM#603147)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:47"	"https://panelapp.agha.umccr.org/panels/68/"	""	"10914684, 27498540"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.23157"	"2020-12-24"
"GENCC_000111-HGNC_23161-OMIM_608104-HP_0000007-GENCC_100002"	"HGNC:23161"	"ALG8"	"MONDO:0011969"	"ALG8-congenital disorder of glycosylation"	"OMIM:608104"	"Congenital disorder of glycosylation, type Ih"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23161"	"ALG8"	"OMIM:608104"	"Congenital disorder of glycosylation, type Ih, MIM# 608104"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:48"	"https://panelapp.agha.umccr.org/panels/68/"	""	"26066342"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.23161"	"2020-12-24"
"GENCC_000111-HGNC_15672-OMIM_608776-HP_0000007-GENCC_100002"	"HGNC:15672"	"ALG9"	"MONDO:0012117"	"ALG9-congenital disorder of glycosylation"	"OMIM:608776"	"Congenital disorder of glycosylation, type Il"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15672"	"ALG9"	"OMIM:608776"	"Congenital disorder of glycosylation, type Il, MIM#608776"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:48"	"https://panelapp.agha.umccr.org/panels/68/"	""	"28932688, 25966638, 26453364"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.15672"	"2020-12-24"
"GENCC_000111-HGNC_868-OMIM_300972-HP_0000007-GENCC_100002"	"HGNC:868"	"ATP6AP1"	"MONDO:0010504"	"immunodeficiency 47"	"OMIM:300972"	"Immunodeficiency 47"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:868"	"ATP6AP1"	"OMIM:300972"	"immunodeficiency-47 (MIM#  300972)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:49"	"https://panelapp.agha.umccr.org/panels/68/"	""	"27231034"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.868"	"2020-12-24"
"GENCC_000111-HGNC_18305-OMIM_301045-HP_0000007-GENCC_100002"	"HGNC:18305"	"ATP6AP2"	"MONDO:0026765"	"congenital disorder of glycosylation, type IIr"	"OMIM:301045"	"Congenital disorder of glycosylation, type IIr"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18305"	"ATP6AP2"	"OMIM:301045"	"Congenital disorder of glycosylation, type IIr, MIM# 301045"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:49"	"https://panelapp.agha.umccr.org/panels/68/"	""	"29127204, 29388887"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.18305"	"2020-12-24"
"GENCC_000111-HGNC_28178-OMIM_616828-HP_0000007-GENCC_100002"	"HGNC:28178"	"VMA22"	"MONDO:0014789"	"CCDC115-CDG"	"OMIM:616828"	"Congenital disorder of glycosylation, type IIo"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:28178"	"CCDC115"	"OMIM:616828"	"Congenital disorder of glycosylation, type IIo (MIM#  616828)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:50"	"https://panelapp.agha.umccr.org/panels/68/"	""	"26833332"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.28178"	"2020-12-24"
"GENCC_000111-HGNC_6545-OMIM_611209-HP_0000007-GENCC_100002"	"HGNC:6545"	"COG1"	"MONDO:0012637"	"COG1-congenital disorder of glycosylation"	"OMIM:611209"	"Congenital disorder of glycosylation, type IIg"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6545"	"COG1"	"OMIM:611209"	"Congenital disorder of glycosylation, type IIg, MIM# 611209"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:50"	"https://panelapp.agha.umccr.org/panels/68/"	""	"16537452, 19008299, 17904886, 11980916"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.6545"	"2020-12-24"
"GENCC_000111-HGNC_6546-OMIM_617395-HP_0000007-GENCC_100004"	"HGNC:6546"	"COG2"	"MONDO:0054559"	"congenital disorder of glycosylation, type IIq"	"OMIM:617395"	"?Congenital disorder of glycosylation, type IIq"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6546"	"COG2"	"OMIM:617395"	"Congenital disorder of glycosylation, type IIq (MIM# 617395)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-12-22 13:07:51"	"https://panelapp.agha.umccr.org/panels/68/"	""	"24784932"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.6546"	"2020-12-24"
"GENCC_000111-HGNC_18620-OMIM_613489-HP_0000007-GENCC_100002"	"HGNC:18620"	"COG4"	"MONDO:0013281"	"COG4-congenital disorder of glycosylation"	"OMIM:613489"	"Congenital disorder of glycosylation, type IIj"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18620"	"COG4"	"OMIM:613489"	"Congenital disorder of glycosylation, type IIj 613489"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:51"	"https://panelapp.agha.umccr.org/panels/68/"	""	"21185756, 19494034"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.18620"	"2020-12-24"
"GENCC_000111-HGNC_14857-OMIM_613612-HP_0000007-GENCC_100002"	"HGNC:14857"	"COG5"	"MONDO:0013325"	"COG5-congenital disorder of glycosylation"	"OMIM:613612"	"Congenital disorder of glycosylation, type IIi"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14857"	"COG5"	"OMIM:613612"	"Congenital disorder of glycosylation, type IIi, MIM# 613612"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:52"	"https://panelapp.agha.umccr.org/panels/68/"	""	"23228021, 31572517, 32174980"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.14857"	"2020-12-24"
"GENCC_000111-HGNC_18621-OMIM_614576-HP_0000007-GENCC_100002"	"HGNC:18621"	"COG6"	"MONDO:0013810"	"COG6-congenital disorder of glycosylation"	"OMIM:614576"	"Congenital disorder of glycosylation, type IIl"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18621"	"COG6"	"OMIM:614576"	"Congenital disorder of glycosylation, type IIl, MIM# 614576"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:52"	"https://panelapp.agha.umccr.org/panels/68/"	""	"20605848, 23430903, 26260076, 32905044, 32683677, 31420886"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.18621"	"2020-12-24"
"GENCC_000111-HGNC_18622-OMIM_608779-HP_0000007-GENCC_100002"	"HGNC:18622"	"COG7"	"MONDO:0012118"	"COG7-congenital disorder of glycosylation"	"OMIM:608779"	"Congenital disorder of glycosylation, type IIe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18622"	"COG7"	"OMIM:608779"	"Congenital disorder of glycosylation, type IIe , MIM#608779"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:53"	"https://panelapp.agha.umccr.org/panels/68/"	""	"15107842, 17356545, 28883096"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.18622"	"2020-12-24"
"GENCC_000111-HGNC_18623-OMIM_611182-HP_0000007-GENCC_100002"	"HGNC:18623"	"COG8"	"MONDO:0012635"	"COG8-congenital disorder of glycosylation"	"OMIM:611182"	"Congenital disorder of glycosylation, type IIh"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18623"	"COG8"	"OMIM:611182"	"Congenital disorder of glycosylation, type IIh, MIM# 611182"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:53"	"https://panelapp.agha.umccr.org/panels/68/"	""	"17220172, 28619360, 30690882, 17331980"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.18623"	"2020-12-24"
"GENCC_000111-HGNC_2728-OMIM_614507-HP_0000007-GENCC_100003"	"HGNC:2728"	"DDOST"	"MONDO:0013789"	"DDOST-congenital disorder of glycosylation"	"OMIM:614507"	"Congenital disorder of glycosylation, type Ir"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2728"	"DDOST"	"OMIM:614507"	"Congenital disorder of glycosylation, type Ir, MIM# 614507"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-12-22 13:07:54"	"https://panelapp.agha.umccr.org/panels/68/"	""	"22305527"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.2728"	"2020-12-24"
"GENCC_000111-HGNC_20603-OMIM_613861-HP_0000007-GENCC_100004"	"HGNC:20603"	"DHDDS"	"MONDO:0013468"	"retinitis pigmentosa 59"	"OMIM:613861"	"Retinitis pigmentosa 59"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20603"	"DHDDS"	"OMIM:613861"	"Congenital disorder of glycosylation, type 1bb, MIM# 613861"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-12-22 13:07:54"	"https://panelapp.agha.umccr.org/panels/68/"	""	"27343064"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.20603"	"2020-12-24"
"GENCC_000111-HGNC_23406-MONDO_0012556-HP_0000007-GENCC_100002"	"HGNC:23406"	"DOLK"	"MONDO:0012556"	"DK1-congenital disorder of glycosylation"	"MONDO:0012556"	"DK1-congenital disorder of glycosylation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23406"	"DOLK"	"MONDO:0012556"	"DK1-CDG, MONDO:0012556"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:55"	"https://panelapp.agha.umccr.org/panels/68/"	""	"17273964, 22242004, 23890587, 30653653, 28816422, 24144945"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.23406"	"2020-12-24"
"GENCC_000111-HGNC_2995-MONDO_0011964-HP_0000007-GENCC_100002"	"HGNC:2995"	"DPAGT1"	"MONDO:0011964"	"DPAGT1-congenital disorder of glycosylation"	"MONDO:0011964"	"DPAGT1-congenital disorder of glycosylation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2995"	"DPAGT1"	"MONDO:0011964"	"DPAGT1-CDG MONDO:0011964"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:55"	"https://panelapp.agha.umccr.org/panels/68/"	""	"12872255, 22492991, 22304930, 31153949, 30653653, 30117111"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.2995"	"2020-12-24"
"GENCC_000111-HGNC_3005-OMIM_608799-HP_0000007-GENCC_100002"	"HGNC:3005"	"DPM1"	"MONDO:0012123"	"congenital disorder of glycosylation type 1E"	"OMIM:608799"	"Congenital disorder of glycosylation, type Ie"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3005"	"DPM1"	"OMIM:608799"	"Congenital disorder of glycosylation, type Ie, MIM# 608799"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:56"	"https://panelapp.agha.umccr.org/panels/68/"	""	"23856421, 16641202, 10642602, 10642597"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.3005"	"2020-12-24"
"GENCC_000111-HGNC_3006-OMIM_615042-HP_0000007-GENCC_100002"	"HGNC:3006"	"DPM2"	"MONDO:0014023"	"congenital muscular dystrophy with intellectual disability and severe epilepsy"	"OMIM:615042"	"Congenital disorder of glycosylation, type Iu"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3006"	"DPM2"	"OMIM:615042"	"Congenital disorder of glycosylation, type Iu, MIM#615042"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:56"	"https://panelapp.agha.umccr.org/panels/68/"	""	"23109149, 33129689"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.3006"	"2020-12-24"
"GENCC_000111-HGNC_4019-OMIM_618005-HP_0000007-GENCC_100002"	"HGNC:4019"	"FUT8"	"MONDO:0020775"	"congenital disorder of glycosylation with defective fucosylation 1"	"OMIM:618005"	"Congenital disorder of glycosylation with defective fucosylation 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4019"	"FUT8"	"OMIM:618005"	"Congenital disorder of glycosylation with defective fucosylation, 618005"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:57"	"https://panelapp.agha.umccr.org/panels/68/"	""	"29304374"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.4019"	"2020-12-24"
"GENCC_000111-HGNC_4124-OMIM_618885-HP_0000007-GENCC_100002"	"HGNC:4124"	"GALNT2"	"MONDO:0030043"	"congenital disorder of glycosylation, type iit"	"OMIM:618885"	"Congenital disorder of glycosylation, type IIt"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4124"	"GALNT2"	"OMIM:618885"	"Congenital disorder of glycosylation, type IIt, MIM# 618885"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:58"	"https://panelapp.agha.umccr.org/panels/68/"	""	"32293671"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.4124"	"2020-12-24"
"GENCC_000111-HGNC_4125-OMIM_211900-HP_0000007-GENCC_100002"	"HGNC:4125"	"GALNT3"	"MONDO:0008897"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"OMIM:211900"	"Tumoral calcinosis, hyperphosphatemic, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4125"	"GALNT3"	"OMIM:211900"	"Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:58"	"https://panelapp.agha.umccr.org/panels/68/"	""	"15133511, 20358599, 32125652"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.4125"	"2020-12-24"
"GENCC_000111-HGNC_25676-OMIM_231070-HP_0000007-GENCC_100002"	"HGNC:25676"	"GORAB"	"MONDO:0009271"	"geroderma osteodysplastica"	"OMIM:231070"	"Geroderma osteodysplasticum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25676"	"GORAB"	"OMIM:231070"	"Geroderma osteodysplasticum MIM#231070"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:58"	"https://panelapp.agha.umccr.org/panels/68/"	""	"18348262, 28807865, 30631079"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.25676"	"2020-12-24"
"GENCC_000111-HGNC_4446-OMIM_617810-HP_0000007-GENCC_100002"	"HGNC:4446"	"GPAA1"	"MONDO:0060627"	"glycosylphosphatidylinositol biosynthesis defect 15"	"OMIM:617810"	"Glycosylphosphatidylinositol biosynthesis defect 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4446"	"GPAA1"	"OMIM:617810"	"Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:58"	"https://panelapp.agha.umccr.org/panels/68/"	""	"29100095"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.4446"	"2020-12-24"
"GENCC_000111-HGNC_6823-OMIM_614202-HP_0000007-GENCC_100002"	"HGNC:6823"	"MAN1B1"	"MONDO:0013624"	"Rafiq syndrome"	"OMIM:614202"	"Rafiq syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6823"	"MAN1B1"	"OMIM:614202"	"Mental retardation, autosomal recessive 15, MIM#614202"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:58"	"https://panelapp.agha.umccr.org/panels/68/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.6823"	"2020-12-24"
"GENCC_000111-HGNC_7045-MONDO_0008908-HP_0000007-GENCC_100002"	"HGNC:7045"	"MGAT2"	"MONDO:0008908"	"MGAT2-congenital disorder of glycosylation"	"MONDO:0008908"	"MGAT2-congenital disorder of glycosylation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7045"	"MGAT2"	"MONDO:0008908"	"MGAT2-CDG, MONDO:0008908"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:59"	"https://panelapp.agha.umccr.org/panels/68/"	""	"8808595, 11228641, 22105986, 33044030, 31420886"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.7045"	"2020-12-24"
"GENCC_000111-HGNC_24862-OMIM_606056-HP_0000007-GENCC_100002"	"HGNC:24862"	"MOGS"	"MONDO:0011629"	"MOGS-congenital disorder of glycosylation"	"OMIM:606056"	"Congenital disorder of glycosylation, type IIb"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24862"	"MOGS"	"OMIM:606056"	"Congenital disorder of glycosylation, type IIb, MIM# 606056"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:07:59"	"https://panelapp.agha.umccr.org/panels/68/"	""	"31925597, 30587846, 33058492"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.24862"	"2020-12-24"
"GENCC_000111-HGNC_7207-MONDO_0012211-HP_0000007-GENCC_100002"	"HGNC:7207"	"MPDU1"	"MONDO:0012211"	"MPDU1-congenital disorder of glycosylation"	"MONDO:0012211"	"MPDU1-congenital disorder of glycosylation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7207"	"MPDU1"	"MONDO:0012211"	"MPDU1-CDG, MONDO:0012211"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:00"	"https://panelapp.agha.umccr.org/panels/68/"	""	"11733564, 11733556, 31741824, 29721919"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.7207"	"2020-12-24"
"GENCC_000111-HGNC_7216-MONDO_0011257-HP_0000007-GENCC_100002"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-CDG MONDO:0011257"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:00"	"https://panelapp.agha.umccr.org/panels/68/"	""	"12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.7216"	"2020-12-24"
"GENCC_000111-HGNC_17646-OMIM_615273-HP_0000007-GENCC_100002"	"HGNC:17646"	"NGLY1"	"MONDO:0014109"	"NGLY1-deficiency"	"OMIM:615273"	"Congenital disorder of deglycosylation 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17646"	"NGLY1"	"OMIM:615273"	"Congenital disorder of deglycosylation, MIM# 615273"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:00"	"https://panelapp.agha.umccr.org/panels/68/"	""	"24651605, 27388694, 32259258, 29550355"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.17646"	"2020-12-24"
"GENCC_000111-HGNC_8905-OMIM_614921-HP_0000007-GENCC_100002"	"HGNC:8905"	"PGM1"	"MONDO:0013968"	"PGM1-congenital disorder of glycosylation"	"OMIM:614921"	"Congenital disorder of glycosylation, type It"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8905"	"PGM1"	"OMIM:614921"	"Congenital disorder of glycosylation, type It 614921"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:00"	"https://panelapp.agha.umccr.org/panels/68/"	""	"24499211"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.8905"	"2020-12-24"
"GENCC_000111-HGNC_8907-MONDO_0014353-HP_0000007-GENCC_100002"	"HGNC:8907"	"PGM3"	"MONDO:0014353"	"immunodeficiency 23"	"MONDO:0014353"	"immunodeficiency 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8907"	"PGM3"	"MONDO:0014353"	"PGM3-CDG, MONDO:0014353"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:01"	"https://panelapp.agha.umccr.org/panels/68/"	""	"30578875, 31231132, 33098103, 30157810, 28704707"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.8907"	"2020-12-24"
"GENCC_000111-HGNC_8959-OMIM_618580-HP_0000007-GENCC_100002"	"HGNC:8959"	"PIGB"	"MONDO:0032822"	"developmental and epileptic encephalopathy, 80"	"OMIM:618580"	"Developmental and epileptic encephalopathy 80"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8959"	"PIGB"	"OMIM:618580"	"Developmental and epileptic encephalopathy 80 618580"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:01"	"https://panelapp.agha.umccr.org/panels/68/"	""	"31256876"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.8959"	"2020-12-24"
"GENCC_000111-HGNC_8964-OMIM_618010-HP_0000007-GENCC_100002"	"HGNC:8964"	"PIGH"	"MONDO:0060724"	"glycosylphosphatidylinositol biosynthesis defect 17"	"OMIM:618010"	"Glycosylphosphatidylinositol biosynthesis defect 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8964"	"PIGH"	"OMIM:618010"	"Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:01"	"https://panelapp.agha.umccr.org/panels/68/"	""	"33156547, 29573052, 29603516"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.8964"	"2020-12-24"
"GENCC_000111-HGNC_8965-OMIM_618879-HP_0000007-GENCC_100002"	"HGNC:8965"	"PIGK"	"MONDO:0030037"	"neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	"OMIM:618879"	"Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8965"	"PIGK"	"OMIM:618879"	"Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:02"	"https://panelapp.agha.umccr.org/panels/68/"	""	"32220290"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.8965"	"2020-12-24"
"GENCC_000111-HGNC_8966-MONDO_0010221-HP_0000007-GENCC_100002"	"HGNC:8966"	"PIGL"	"MONDO:0010221"	"CHIME syndrome"	"MONDO:0010221"	"CHIME syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8966"	"PIGL"	"MONDO:0010221"	"CHIME syndrome, MIM# 280000, MONDO:0010221"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:02"	"https://panelapp.agha.umccr.org/panels/68/"	""	"22444671, 31535386, 30023290, 29473937, 28371479, 25706356"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.8966"	"2020-12-24"
"GENCC_000111-HGNC_18858-OMIM_610293-HP_0000007-GENCC_100003"	"HGNC:18858"	"PIGM"	"MONDO:0012465"	"hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	"OMIM:610293"	"Glycosylphosphatidylinositol deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18858"	"PIGM"	"OMIM:610293"	"Glycosylphosphatidylinositol deficiency, MIM# 610293"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2020-12-22 13:08:02"	"https://panelapp.agha.umccr.org/panels/68/"	""	"31445883, 16767100"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.18858"	"2020-12-24"
"GENCC_000111-HGNC_8967-MONDO_0013563-HP_0000007-GENCC_100002"	"HGNC:8967"	"PIGN"	"MONDO:0013563"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"MONDO:0013563"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8967"	"PIGN"	"MONDO:0013563"	"Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:02"	"https://panelapp.agha.umccr.org/panels/68/"	""	"21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.8967"	"2020-12-24"
"GENCC_000111-HGNC_23215-MONDO_0013882-HP_0000007-GENCC_100002"	"HGNC:23215"	"PIGO"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome 2"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23215"	"PIGO"	"MONDO:0013882"	"Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:02"	"https://panelapp.agha.umccr.org/panels/68/"	""	"22683086, 31698102, 28900819, 28545593, 28337824"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.23215"	"2020-12-24"
"GENCC_000111-HGNC_3046-OMIM_617599-HP_0000007-GENCC_100002"	"HGNC:3046"	"PIGP"	"MONDO:0033364"	"developmental and epileptic encephalopathy, 55"	"OMIM:617599"	"Developmental and epileptic encephalopathy 55"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3046"	"PIGP"	"OMIM:617599"	"Developmental and epileptic encephalopathy 55, MIM# 617599"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:02"	"https://panelapp.agha.umccr.org/panels/68/"	""	"31139695, 32042915, 28334793"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.3046"	"2020-12-24"
"GENCC_000111-HGNC_14937-OMIM_618143-HP_0000007-GENCC_100002"	"HGNC:14937"	"PIGS"	"MONDO:0029140"	"glycosylphosphatidylinositol biosynthesis defect 18"	"OMIM:618143"	"Developmental and epileptic encephalopathy 95"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14937"	"PIGS"	"OMIM:618143"	"Glycosylphosphatidylinositol biosynthesis defect 18 618143"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:03"	"https://panelapp.agha.umccr.org/panels/68/"	""	"30269814, "	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.14937"	"2020-12-24"
"GENCC_000111-HGNC_14938-MONDO_0014165-HP_0000007-GENCC_100002"	"HGNC:14938"	"PIGT"	"MONDO:0014165"	"multiple congenital anomalies-hypotonia-seizures syndrome 3"	"MONDO:0014165"	"multiple congenital anomalies-hypotonia-seizures syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14938"	"PIGT"	"MONDO:0014165"	"Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:03"	"https://panelapp.agha.umccr.org/panels/68/"	""	"30976099, 25943031, 24906948, 24906948, 24906948, 28728837, 28728837, 28728837"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.14938"	"2020-12-24"
"GENCC_000111-HGNC_15791-OMIM_618590-HP_0000007-GENCC_100002"	"HGNC:15791"	"PIGU"	"MONDO:0032824"	"glycosylphosphatidylinositol biosynthesis defect 21"	"OMIM:618590"	"Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15791"	"PIGU"	"OMIM:618590"	"Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:03"	"https://panelapp.agha.umccr.org/panels/68/"	""	"31353022"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.15791"	"2020-12-24"
"GENCC_000111-HGNC_26031-MONDO_0009398-HP_0000007-GENCC_100002"	"HGNC:26031"	"PIGV"	"MONDO:0009398"	"hyperphosphatasia with intellectual disability syndrome 1"	"MONDO:0009398"	"hyperphosphatasia with intellectual disability syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26031"	"PIGV"	"MONDO:0009398"	"Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:03"	"https://panelapp.agha.umccr.org/panels/68/"	""	"20802478, 22315194, 28817240, 24129430"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.26031"	"2020-12-24"
"GENCC_000111-HGNC_23213-OMIM_616025-HP_0000007-GENCC_100002"	"HGNC:23213"	"PIGW"	"MONDO:0014457"	"hyperphosphatasia with intellectual disability syndrome 5"	"OMIM:616025"	"Glycosylphosphatidylinositol biosynthesis defect 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23213"	"PIGW"	"OMIM:616025"	"Glycosylphosphatidylinositol biosynthesis defect 11, MIM#616025"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:03"	"https://panelapp.agha.umccr.org/panels/68/"	""	"24367057, 27626616, 30813920, 32198969"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.23213"	"2020-12-24"
"GENCC_000111-HGNC_9115-OMIM_212065-HP_0000007-GENCC_100002"	"HGNC:9115"	"PMM2"	"MONDO:0008907"	"PMM2-congenital disorder of glycosylation"	"OMIM:212065"	"Congenital disorder of glycosylation, type Ia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9115"	"PMM2"	"OMIM:212065"	"Congenital disorder of glycosylation, type Ia 212065"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:04"	"https://panelapp.agha.umccr.org/panels/68/"	""	"21541725"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.9115"	"2020-12-24"
"GENCC_000111-HGNC_30220-MONDO_0012783-HP_0000007-GENCC_100002"	"HGNC:30220"	"RFT1"	"MONDO:0012783"	"RFT1-congenital disorder of glycosylation"	"MONDO:0012783"	"RFT1-congenital disorder of glycosylation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30220"	"RFT1"	"MONDO:0012783"	"RFT1-CDG, MONDO:0012783"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-22 13:08:04"	"https://panelapp.agha.umccr.org/panels/68/"	""	"18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.68.30220"	"2020-12-24"
"GENCC_000111-HGNC_47-OMIM_614497-HP_0000006-GENCC_100004"	"HGNC:47"	"ABCB6"	"MONDO:0013783"	"microphthalmia, isolated, with coloboma 7"	"OMIM:614497"	"Microphthalmia/coloboma 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:47"	"ABCB6"	"OMIM:614497"	"Microphthalmia, isolated, with coloboma 7 MIM#614497"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-12-28 13:08:04"	"https://panelapp.agha.umccr.org/panels/42/"	""	"22226084, 24281366"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.47"	"2020-12-30"
"GENCC_000111-HGNC_409-OMIM_615113-HP_0000007-GENCC_100002"	"HGNC:409"	"ALDH1A3"	"MONDO:0014050"	"isolated microphthalmia 8"	"OMIM:615113"	"Microphthalmia, isolated 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:409"	"ALDH1A3"	"OMIM:615113"	"Microphthalmia, isolated 8, MIM# 615113"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:05"	"https://panelapp.agha.umccr.org/panels/42/"	""	"23312594, 23591992, 30200890, 28890889, 26873617, 24777706"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.409"	"2020-12-30"
"GENCC_000111-HGNC_20207-OMIM_261540-HP_0000007-GENCC_100002"	"HGNC:20207"	"B3GLCT"	"MONDO:0009856"	"Peters plus syndrome"	"OMIM:261540"	"Peters-plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20207"	"B3GLCT"	"OMIM:261540"	"Peters-plus syndrome, MIM#261540"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:05"	"https://panelapp.agha.umccr.org/panels/42/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.20207"	"2020-12-30"
"GENCC_000111-HGNC_1071-OMIM_607932-HP_0000006-GENCC_100002"	"HGNC:1071"	"BMP4"	"MONDO:0011936"	"microphthalmia with brain and digit anomalies"	"OMIM:607932"	"Microphthalmia, syndromic 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1071"	"BMP4"	"OMIM:607932"	"Microphthalmia, syndromic 6, MIM# 607932"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:05"	"https://panelapp.agha.umccr.org/panels/42/"	""	"21340693, 31053785"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.1071"	"2020-12-30"
"GENCC_000111-HGNC_2040-OMIM_248190-HP_0000007-GENCC_100002"	"HGNC:2040"	"CLDN19"	"MONDO:0009548"	"renal hypomagnesemia 5 with ocular involvement"	"OMIM:248190"	"Hypomagnesemia 5, renal, with ocular involvement"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2040"	"CLDN19"	"OMIM:248190"	"Hypomagnesemia 5, renal, with ocular involvement, MIM#248190"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:05"	"https://panelapp.agha.umccr.org/panels/42/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.2040"	"2020-12-30"
"GENCC_000111-HGNC_3808-OMIM_610256-HP_0000007-GENCC_100002"	"HGNC:3808"	"FOXE3"	"MONDO:0012456"	"congenital primary aphakia"	"OMIM:610256"	"Anterior segment dysgenesis 2, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3808"	"FOXE3"	"OMIM:610256"	"Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:06"	"https://panelapp.agha.umccr.org/panels/42/"	""	"27218149, 21150893, 31884615, 29878917, 29713869"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.3808"	"2020-12-30"
"GENCC_000111-HGNC_5017-OMIM_612109-HP_0000007-GENCC_100002"	"HGNC:5017"	"HMX1"	"MONDO:0012802"	"oculoauricular syndrome"	"OMIM:612109"	"Oculoauricular syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:5017"	"HMX1"	"OMIM:612109"	"Oculoauricular syndrome, MIM#612109"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:06"	"https://panelapp.agha.umccr.org/panels/42/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.5017"	"2020-12-30"
"GENCC_000111-HGNC_6758-OMIM_615877-HP_0000006-GENCC_100002"	"HGNC:6758"	"MAB21L2"	"MONDO:0014380"	"colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"OMIM:615877"	"Microphthalmia/coloboma and skeletal dysplasia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6758"	"MAB21L2"	"OMIM:615877"	"Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:06"	"https://panelapp.agha.umccr.org/panels/42/"	""	"24906020, 25719200, 31037784, 30375740, 30073347, 26116559"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.6758"	"2020-12-30"
"GENCC_000111-HGNC_18121-OMIM_611040-HP_0000007-GENCC_100002"	"HGNC:18121"	"MFRP"	"MONDO:0012605"	"isolated microphthalmia 5"	"OMIM:611040"	"Microphthalmia, isolated 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18121"	"MFRP"	"OMIM:611040"	"Microphthalmia, isolated 5, MIM# 611040"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:06"	"https://panelapp.agha.umccr.org/panels/42/"	""	"17167404, 18554571, 20361016"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.18121"	"2020-12-30"
"GENCC_000111-HGNC_7105-OMIM_617306-HP_0000007-GENCC_100002"	"HGNC:7105"	"MITF"	"MONDO:0015014"	"coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"	"OMIM:617306"	"COMMAD syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:7105"	"MITF"	"OMIM:617306"	"COMMAD syndrome, MIM# 617306"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:06"	"https://panelapp.agha.umccr.org/panels/42/"	""	"27889061, 32541011"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.7105"	"2020-12-30"
"GENCC_000111-HGNC_8522-OMIM_610125-HP_0000006-GENCC_100002"	"HGNC:8522"	"OTX2"	"MONDO:0012413"	"syndromic microphthalmia type 5"	"OMIM:610125"	"Microphthalmia, syndromic 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8522"	"OTX2"	"OMIM:610125"	"Microphthalmia, syndromic 5, MIM# 610125"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:07"	"https://panelapp.agha.umccr.org/panels/42/"	""	"24859618"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.8522"	"2020-12-30"
"GENCC_000111-HGNC_8616-MONDO_0007352-HP_0000006-GENCC_100002"	"HGNC:8616"	"PAX2"	"MONDO:0007352"	"renal coloboma syndrome"	"MONDO:0007352"	"renal coloboma syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8616"	"PAX2"	"MONDO:0007352"	"Renal coloboma syndrome, MONDO:0007352"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:07"	"https://panelapp.agha.umccr.org/panels/42/"	""	"21654726"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.8616"	"2020-12-30"
"GENCC_000111-HGNC_8620-OMIM_120200-HP_0000006-GENCC_100002"	"HGNC:8620"	"PAX6"	"MONDO:0007350"	"coloboma, ocular, autosomal dominant"	"OMIM:120200"	"Microphthalmia/coloboma 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8620"	"PAX6"	"OMIM:120200"	"Coloboma, ocular, MIM# 120200"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:08"	"https://panelapp.agha.umccr.org/panels/42/"	""	"31700164, 30986449, 29930474, 22171686"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.8620"	"2020-12-30"
"GENCC_000111-HGNC_39433-OMIM_613517-HP_0000007-GENCC_100002"	"HGNC:39433"	"PRSS56"	"MONDO:0013293"	"isolated microphthalmia 6"	"OMIM:613517"	"Microphthalmia, isolated 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:39433"	"PRSS56"	"OMIM:613517"	"Microphthalmia, isolated 6, MIM# 613517"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:08"	"https://panelapp.agha.umccr.org/panels/42/"	""	"21532570, 23127749, 31992737"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.39433"	"2020-12-30"
"GENCC_000111-HGNC_17042-OMIM_615583-HP_0000006-GENCC_100002"	"HGNC:17042"	"PUF60"	"MONDO:0014263"	"8q24.3 microdeletion syndrome"	"OMIM:615583"	"Verheij syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17042"	"PUF60"	"OMIM:615583"	"Verheij syndrome, MIM#615583"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:09"	"https://panelapp.agha.umccr.org/panels/42/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.17042"	"2020-12-30"
"GENCC_000111-HGNC_9865-OMIM_615524-HP_0000006-GENCC_100002"	"HGNC:9865"	"RARB"	"MONDO:0014229"	"microphthalmia, syndromic 12"	"OMIM:615524"	"Microphthalmia, syndromic 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9865"	"RARB"	"OMIM:615524"	"Microphthalmia, syndromic 12, MIM# 615524"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:09"	"https://panelapp.agha.umccr.org/panels/42/"	""	"30880327, 30281527, 24075189, 27120018, 25457163, 17506106"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.9865"	"2020-12-30"
"GENCC_000111-HGNC_9865-OMIM_615524-HP_0000007-GENCC_100002"	"HGNC:9865"	"RARB"	"MONDO:0014229"	"microphthalmia, syndromic 12"	"OMIM:615524"	"Microphthalmia, syndromic 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9865"	"RARB"	"OMIM:615524"	"Microphthalmia, syndromic 12, MIM# 615524"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:09"	"https://panelapp.agha.umccr.org/panels/42/"	""	"30880327, 30281527, 24075189, 27120018, 25457163, 17506106"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.9865"	"2020-12-30"
"GENCC_000111-HGNC_18662-OMIM_611038-HP_0000007-GENCC_100002"	"HGNC:18662"	"RAX"	"MONDO:0012604"	"isolated microphthalmia 3"	"OMIM:611038"	"Microphthalmia, syndromic 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18662"	"RAX"	"OMIM:611038"	"Microphthalmia, isolated 3, MIM# 611038"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:09"	"https://panelapp.agha.umccr.org/panels/42/"	""	"14662654, 18783408, 30811539, 24033328, 22524605"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.18662"	"2020-12-30"
"GENCC_000111-HGNC_9922-OMIM_616428-HP_0000006-GENCC_100002"	"HGNC:9922"	"RBP4"	"MONDO:0014635"	"microphthalmia, isolated, with coloboma 10"	"OMIM:616428"	"Microphthalmia/coloboma 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9922"	"RBP4"	"OMIM:616428"	"Microphthalmia, isolated, with coloboma 10 MIM#616428"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:10"	"https://panelapp.agha.umccr.org/panels/42/"	""	"25910211, 29178648"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.9922"	"2020-12-30"
"GENCC_000111-HGNC_10526-OMIM_216820-HP_0000007-GENCC_100004"	"HGNC:10526"	"SALL2"	"MONDO:0009002"	"coloboma, ocular, autosomal recessive"	"OMIM:216820"	"?Coloboma, ocular, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10526"	"SALL2"	"OMIM:216820"	"Coloboma, ocular, autosomal recessive, MIM#16820"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-12-28 13:08:10"	"https://panelapp.agha.umccr.org/panels/42/"	""	"24412933"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.10526"	"2020-12-30"
"GENCC_000111-HGNC_10848-OMIM_611638-HP_0000006-GENCC_100002"	"HGNC:10848"	"SHH"	"MONDO:0012709"	"microphthalmia, isolated, with coloboma 5"	"OMIM:611638"	"Microphthalmia/coloboma 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10848"	"SHH"	"OMIM:611638"	"Microphthalmia with coloboma 5, MIM# 611638"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:11"	"https://panelapp.agha.umccr.org/panels/42/"	""	"21976454, 12503095"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.10848"	"2020-12-30"
"GENCC_000111-HGNC_10892-OMIM_212550-HP_0000007-GENCC_100002"	"HGNC:10892"	"SIX6"	"MONDO:0008927"	"colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"	"OMIM:212550"	"Optic disc anomalies with retinal and/or macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10892"	"SIX6"	"OMIM:212550"	"Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:11"	"https://panelapp.agha.umccr.org/panels/42/"	""	"23167593, 24702266, 33108933, 31207931, 24702266"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.10892"	"2020-12-30"
"GENCC_000111-HGNC_29090-OMIM_603457-HP_0000006-GENCC_100002"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"OMIM:603457"	"Bosma arhinia microphthalmia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29090"	"SMCHD1"	"OMIM:603457"	"Bosma arhinia microphthalmia syndrome (MIM#603457)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:11"	"https://panelapp.agha.umccr.org/panels/42/"	""	"28067911, 31243061"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.29090"	"2020-12-30"
"GENCC_000111-HGNC_20318-OMIM_206920-HP_0000007-GENCC_100002"	"HGNC:20318"	"SMOC1"	"MONDO:0008800"	"microphthalmia with limb anomalies"	"OMIM:206920"	"Microphthalmia with limb anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20318"	"SMOC1"	"OMIM:206920"	"Microphthalmia with limb anomalies, MIM# 206920"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:11"	"https://panelapp.agha.umccr.org/panels/42/"	""	"21194678, 21194680, 30445150"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.20318"	"2020-12-30"
"GENCC_000111-HGNC_11195-OMIM_206900-HP_0000006-GENCC_100002"	"HGNC:11195"	"SOX2"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"OMIM:206900"	"Microphthalmia, syndromic 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11195"	"SOX2"	"OMIM:206900"	"Microphthalmia, syndromic 3, MIM# 206900"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:11"	"https://panelapp.agha.umccr.org/panels/42/"	""	"30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.11195"	"2020-12-30"
"GENCC_000111-HGNC_30650-OMIM_601186-HP_0000007-GENCC_100002"	"HGNC:30650"	"STRA6"	"MONDO:0011010"	"Matthew-Wood syndrome"	"OMIM:601186"	"Microphthalmia, isolated, with coloboma 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30650"	"STRA6"	"OMIM:601186"	"Microphthalmia, syndromic 9, MIM# 601186"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:11"	"https://panelapp.agha.umccr.org/panels/42/"	""	"17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.30650"	"2020-12-30"
"GENCC_000111-HGNC_29944-OMIM_615145-HP_0000007-GENCC_100002"	"HGNC:29944"	"TENM3"	"MONDO:0014059"	"microphthalmia, isolated, with coloboma 9"	"OMIM:615145"	"?Microphthalmia/coloboma 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29944"	"TENM3"	"OMIM:615145"	"Microphthalmia, syndromic 15, MIM#615145"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:11"	"https://panelapp.agha.umccr.org/panels/42/"	""	"30513139, 22766609, 27103084, 29753094"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.29944"	"2020-12-30"
"GENCC_000111-HGNC_11742-OMIM_113620-HP_0000006-GENCC_100002"	"HGNC:11742"	"TFAP2A"	"MONDO:0007235"	"branchiooculofacial syndrome"	"OMIM:113620"	"Branchiooculofacial syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11742"	"TFAP2A"	"OMIM:113620"	"Branchiooculofacial syndrome, MIM# 113620"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:11"	"https://panelapp.agha.umccr.org/panels/42/"	""	"19206157, 19685247, 20358615, 32766183, 24783654"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.11742"	"2020-12-30"
"GENCC_000111-HGNC_24529-OMIM_615972-HP_0000006-GENCC_100002"	"HGNC:24529"	"TMEM98"	"MONDO:0014426"	"nanophthalmos 4"	"OMIM:615972"	"Nanophthalmos 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24529"	"TMEM98"	"OMIM:615972"	"Nanophthalmos 4 MIM#615972"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:12"	"https://panelapp.agha.umccr.org/panels/42/"	""	"24852644, 26392740"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.24529"	"2020-12-30"
"GENCC_000111-HGNC_12660-OMIM_614402-HP_0000007-GENCC_100004"	"HGNC:12660"	"VAX1"	"MONDO:0013734"	"microphthalmia, syndromic 11"	"OMIM:614402"	"?Microphthalmia, syndromic 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12660"	"VAX1"	"OMIM:614402"	"Microphthalmia, syndromic 11, MIM# 614402"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2020-12-28 13:08:13"	"https://panelapp.agha.umccr.org/panels/42/"	""	"22095910"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.12660"	"2020-12-30"
"GENCC_000111-HGNC_1975-OMIM_610092-HP_0000007-GENCC_100002"	"HGNC:1975"	"VSX2"	"MONDO:0012408"	"microphthalmia, isolated, with coloboma 3"	"OMIM:610092"	"Microphthalmia/coloboma 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1975"	"VSX2"	"OMIM:610092"	"Microphthalmia with coloboma 3, MIM# 610092"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:13"	"https://panelapp.agha.umccr.org/panels/42/"	""	"15257456, 17661825, 31884615, 28121235, 27301076, 24033328"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.1975"	"2020-12-30"
"GENCC_000111-HGNC_16262-OMIM_120433-HP_0000006-GENCC_100002"	"HGNC:16262"	"YAP1"	"MONDO:0007355"	"uveal coloboma-cleft lip and palate-intellectual disability"	"OMIM:120433"	"Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16262"	"YAP1"	"OMIM:120433"	"Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-12-28 13:08:13"	"https://panelapp.agha.umccr.org/panels/42/"	""	"24462371, 27267789, 28801591"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.42.16262"	"2020-12-30"
"GENCC_000111-HGNC_791-OMIM_616517-HP_0000007-GENCC_100002"	"HGNC:791"	"ATF6"	"MONDO:0014677"	"achromatopsia 7"	"OMIM:616517"	"Achromatopsia 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:791"	"ATF6"	"OMIM:616517"	"Achromatopsia 7 MIM#616517"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-11-02 13:08:14"	"https://panelapp.agha.umccr.org/panels/3149/"	""	"26063662, 26029869"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3149.791"	"2020-12-30"
"GENCC_000111-HGNC_2150-OMIM_216900-HP_0000007-GENCC_100002"	"HGNC:2150"	"CNGA3"	"MONDO:0009003"	"achromatopsia 2"	"OMIM:216900"	"Achromatopsia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2150"	"CNGA3"	"OMIM:216900"	"Achromatopsia 2 MIM#216900"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-11-02 13:08:14"	"https://panelapp.agha.umccr.org/panels/3149/"	""	"9662398, 11536077, 17265047"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3149.2150"	"2020-12-30"
"GENCC_000111-HGNC_2153-OMIM_262300-HP_0000007-GENCC_100002"	"HGNC:2153"	"CNGB3"	"MONDO:0009875"	"achromatopsia 3"	"OMIM:262300"	"Achromatopsia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2153"	"CNGB3"	"OMIM:262300"	"Achromatopsia 3 MIM#262300"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-11-02 13:08:15"	"https://panelapp.agha.umccr.org/panels/3149/"	""	"17265047"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3149.2153"	"2020-12-30"
"GENCC_000111-HGNC_4394-OMIM_613856-HP_0000007-GENCC_100002"	"HGNC:4394"	"GNAT2"	"MONDO:0013465"	"achromatopsia 4"	"OMIM:613856"	"Achromatopsia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4394"	"GNAT2"	"OMIM:613856"	"Achromatopsia 4 MIM#613856"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-11-02 13:08:15"	"https://panelapp.agha.umccr.org/panels/3149/"	""	"32203983, 17251445"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3149.4394"	"2020-12-30"
"GENCC_000111-HGNC_8790-OMIM_610024-HP_0000007-GENCC_100002"	"HGNC:8790"	"PDE6H"	"MONDO:0012398"	"retinal cone dystrophy 3A"	"OMIM:610024"	"Achromatopsia 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8790"	"PDE6H"	"OMIM:610024"	"Achromatopsia 6 MIM#610024"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-11-02 13:08:15"	"https://panelapp.agha.umccr.org/panels/3149/"	""	"22901948"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3149.8790"	"2020-12-30"
"GENCC_000111-HGNC_10004-OMIM_608415-HP_0000007-GENCC_100002"	"HGNC:10004"	"RGS9"	"MONDO:0012033"	"bradyopsia"	"OMIM:608415"	"Prolonged electroretinal response suppression 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10004"	"RGS9"	"OMIM:608415"	"Bradyopsia MIM#608415"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-11-02 13:08:16"	"https://panelapp.agha.umccr.org/panels/3149/"	""	"14702087, 10676965, 29107794"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3149.10004"	"2020-12-30"
"GENCC_000111-HGNC_30304-OMIM_608415-HP_0000007-GENCC_100002"	"HGNC:30304"	"RGS9BP"	"MONDO:0012033"	"bradyopsia"	"OMIM:608415"	"Prolonged electroretinal response suppression 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30304"	"RGS9BP"	"OMIM:608415"	"Bradyopsia MIM#608415"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2020-11-02 13:08:16"	"https://panelapp.agha.umccr.org/panels/3149/"	""	"14702087, 19818506"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.3149.30304"	"2020-12-30"
"GENCC_000106-HGNC_61-OMIM_300100-HP_0001417-GENCC_100002"	"HGNC:61"	"ABCD1"	"MONDO:0018544"	"adrenoleukodystrophy"	"OMIM:300100"	"Adrenomyeloneuropathy, adult"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:61"	"ABCD1"	"OMIM:300100"	"X-linked cerebral adrenoleukodystrophy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 20:33:21"	""	""	"11748843, 22483867, 24480483, 25115486, 26049658"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCD10Adrenoleuk"	"2023-11-30"
"GENCC_000106-HGNC_87-OMIM_611283-HP_0000007-GENCC_100002"	"HGNC:87"	"ACAD8"	"MONDO:0012648"	"isobutyryl-CoA dehydrogenase deficiency"	"OMIM:611283"	"Isobutyryl-CoA dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:87"	"ACAD8"	"OMIM:611283"	"isobutyryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-23 08:49:16"	""	""	"15505379, 16857760, 17304052, 30253142"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACAD80IBDdef02"	"2023-11-30"
"GENCC_000106-HGNC_21497-OMIM_611126-HP_0000007-GENCC_100002"	"HGNC:21497"	"ACAD9"	"MONDO:0012624"	"acyl-CoA dehydrogenase 9 deficiency"	"OMIM:611126"	"Mitochondrial complex I deficiency, nuclear type 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21497"	"ACAD9"	"OMIM:611126"	"acyl-CoA dehydrogenase 9 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:17:14"	""	""	"21057504, 22499348, 25721401, 26669660, 26826406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACAD90MC1def"	"2023-11-30"
"GENCC_000106-HGNC_89-OMIM_201450-HP_0000007-GENCC_100002"	"HGNC:89"	"ACADM"	"MONDO:0008721"	"medium chain acyl-CoA dehydrogenase deficiency"	"OMIM:201450"	"Acyl-CoA dehydrogenase, medium chain, deficiency of"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:89"	"ACADM"	"OMIM:201450"	"medium chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"15832312, 16121256, 19224950, 20434380, 8198141"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACADM0MCADdef"	"2023-11-30"
"GENCC_000106-HGNC_91-OMIM_610006-HP_0000007-GENCC_100002"	"HGNC:91"	"ACADSB"	"MONDO:0012392"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"OMIM:610006"	"2-methylbutyrylglycinuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:91"	"ACADSB"	"OMIM:610006"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"20547083, 26284228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACADSB0ACADS8def"	"2023-11-30"
"GENCC_000106-HGNC_92-OMIM_201475-HP_0000007-GENCC_100002"	"HGNC:92"	"ACADVL"	"MONDO:0008723"	"very long chain acyl-CoA dehydrogenase deficiency"	"OMIM:201475"	"VLCAD deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:92"	"ACADVL"	"OMIM:201475"	"very long chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-06 08:21:03"	""	""	"11590124, 12893739, 201475, 9973285"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACADVL0VLCADdef02"	"2023-11-30"
"GENCC_000106-HGNC_93-OMIM_203750-HP_0000007-GENCC_100002"	"HGNC:93"	"ACAT1"	"MONDO:0008760"	"beta-ketothiolase deficiency"	"OMIM:203750"	"Alpha-methylacetoacetic aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:93"	"ACAT1"	"OMIM:203750"	"beta-ketothiolase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:35:04"	""	""	"28220263, 7749408"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACAT10BetaKeto"	"2023-11-30"
"GENCC_000106-HGNC_27288-OMIM_614265-HP_0000007-GENCC_100002"	"HGNC:27288"	"ACSF3"	"MONDO:0013661"	"combined malonic and methylmalonic acidemia"	"OMIM:614265"	"Combined malonic and methylmalonic aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27288"	"ACSF3"	"OMIM:614265"	"combined malonic and methylmalonic acidemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"21785126, 21841779, 26827111, 29858964"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACSF30CMMA"	"2023-11-30"
"GENCC_000106-HGNC_163-OMIM_615193-HP_0000006-GENCC_100002"	"HGNC:163"	"ACTN1"	"MONDO:0014078"	"platelet-type bleeding disorder 15"	"OMIM:615193"	"Bleeding disorder, platelet-type, 15"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:163"	"ACTN1"	"OMIM:615193"	"autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 16:43:09"	""	""	"23434115, 25361813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTN10Thrombocytopen"	"2023-11-30"
"GENCC_000106-HGNC_186-OMIM_102700-HP_0000007-GENCC_100002"	"HGNC:186"	"ADA"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"OMIM:102700"	"Severe combined immunodeficiency due to ADA deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:186"	"ADA"	"OMIM:102700"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-09 07:17:36"	""	""	"21664875, 26255240, 26376800"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADA0SCID"	"2023-11-30"
"GENCC_000106-HGNC_1366-OMIM_274150-HP_0000007-GENCC_100002"	"HGNC:1366"	"ADAMTS13"	"MONDO:0010122"	"congenital thrombotic thrombocytopenic purpura"	"OMIM:274150"	"Thrombotic thrombocytopenic purpura, hereditary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1366"	"ADAMTS13"	"OMIM:274150"	"congenital thrombotic thrombocytopenic purpura"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-27 07:49:50"	""	""	"11586351, 11686108, 12753286, 14563640, 19055667, 19847791, 21781265"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTS130ThrombocytoPurp"	"2023-11-30"
"GENCC_000106-HGNC_15766-OMIM_615873-HP_0000006-GENCC_100002"	"HGNC:15766"	"ADNP"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"OMIM:615873"	"Helsmoortel-van der Aa syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15766"	"ADNP"	"OMIM:615873"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 02:15:38"	""	""	"12888219, 24531329, 25169753, 29724491, 29911927, 30106381"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADNP0Helsmoortel"	"2023-11-30"
"GENCC_000106-HGNC_291-OMIM_103050-HP_0000007-GENCC_100002"	"HGNC:291"	"ADSL"	"MONDO:0007068"	"adenylosuccinate lyase deficiency"	"OMIM:103050"	"Adenylosuccinase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:291"	"ADSL"	"OMIM:103050"	"adenylosuccinate lyase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:44"	""	""	"10888601, 20177786"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADSL0ADSL"	"2023-11-30"
"GENCC_000106-HGNC_3776-OMIM_309548-HP_0001417-GENCC_100002"	"HGNC:3776"	"AFF2"	"MONDO:0010659"	"FRAXE intellectual disability"	"OMIM:309548"	"Intellectual developmental disorder, X-linked 109"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3776"	"AFF2"	"OMIM:309548"	"FRAXE intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:47:19"	""	""	"11923441, 21739600, 22065534, 23352160, 26350204, 31316545"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AFF20ID"	"2023-11-30"
"GENCC_000106-HGNC_327-OMIM_600121-HP_0000007-GENCC_100002"	"HGNC:327"	"AGPS"	"MONDO:0010823"	"rhizomelic chondrodysplasia punctata type 3"	"OMIM:600121"	"Rhizomelic chondrodysplasia punctata, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:327"	"AGPS"	"OMIM:600121"	"rhizomelic chondrodysplasia punctata type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"10553003, 21990100, 25197626, 9553082"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGPS0ChondrodysPunct"	"2023-11-30"
"GENCC_000106-HGNC_406-OMIM_239510-HP_0000007-GENCC_100002"	"HGNC:406"	"ALDH4A1"	"MONDO:0009401"	"hyperprolinemia type 2"	"OMIM:239510"	"Hyperprolinemia, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:406"	"ALDH4A1"	"OMIM:239510"	"hyperprolinemia type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 11:47:42"	""	""	"4369405, 956388, 9700195"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH4A10Hyperprolin"	"2023-11-30"
"GENCC_000106-HGNC_877-OMIM_266100-HP_0000007-GENCC_100002"	"HGNC:877"	"ALDH7A1"	"MONDO:0020741"	"pyridoxine-dependent epilepsy caused by ALDH7A1 mutant"	"OMIM:266100"	"Epilepsy, early-onset, 4, vitamin B6-dependent"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:877"	"ALDH7A1"	"OMIM:266100"	"pyridoxine-dependent epilepsy caused by ALDH7A1 mutant"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-13 09:11:39"	""	""	"16491085, 20554659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH7A10PDE"	"2023-11-30"
"GENCC_000106-HGNC_427-OMIM_613014-HP_0000006-GENCC_100002"	"HGNC:427"	"ALK"	"MONDO:0013083"	"neuroblastoma, susceptibility to, 3"	"OMIM:613014"	"{Neuroblastoma, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:427"	"ALK"	"OMIM:613014"	"neuroblastoma, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:57"	""	""	"18724359"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALK0ALKrelCanc"	"2023-11-30"
"GENCC_000106-HGNC_428-OMIM_203800-HP_0000007-GENCC_100002"	"HGNC:428"	"ALMS1"	"MONDO:0008763"	"Alstrom syndrome"	"OMIM:203800"	"Alstrom syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:428"	"ALMS1"	"OMIM:203800"	"Alstrom syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-21 21:01:11"	""	""	"17594715, 21522186, 25296579, 25846608, 30484169"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALMS10Alstrom"	"2023-11-30"
"GENCC_000106-HGNC_566-OMIM_608233-HP_0000007-GENCC_100002"	"HGNC:566"	"AP3B1"	"MONDO:0011997"	"Hermansky-Pudlak syndrome 2"	"OMIM:608233"	"Hermansky-Pudlak syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:566"	"AP3B1"	"OMIM:608233"	"Hermansky-Pudlak syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 18:34:03"	""	""	"11807095, 11809908, 16420244, 16507770, 16537806, 23403622, 23557002, 9931340"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP3B10Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_663-OMIM_207800-HP_0000007-GENCC_100002"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"hyperargininemia"	"OMIM:207800"	"Argininemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:663"	"ARG1"	"OMIM:207800"	"hyperargininemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:17:24"	""	""	"12052859, 27570396, 7649538"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARG10ARGdef02"	"2023-11-30"
"GENCC_000106-HGNC_18040-OMIM_135900-HP_0000006-GENCC_100002"	"HGNC:18040"	"ARID1B"	"MONDO:0007617"	"Coffin-Siris syndrome 1"	"OMIM:135900"	"Coffin-Siris syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18040"	"ARID1B"	"OMIM:135900"	"Coffin-Siris syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-03 15:35:38"	""	""	"24674232, 25674384, 30349098, 30459321, 31628733, 33936271, 34775996, 35579625, 35879281, 36352633"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARID1B0Coff"	"2023-11-30"
"GENCC_000106-HGNC_25419-OMIM_612291-HP_0000007-GENCC_100002"	"HGNC:25419"	"ARL13B"	"MONDO:0012855"	"Joubert syndrome 8"	"OMIM:612291"	"Joubert syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25419"	"ARL13B"	"OMIM:612291"	"Joubert syndrome 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"17488627, 18674751, 19906870, 21976698, 25138100, 29255182, 30573647"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARL13B0Joubert"	"2023-11-30"
"GENCC_000106-HGNC_704-OMIM_617718-HP_0000007-GENCC_100002"	"HGNC:704"	"ARPC1B"	"MONDO:0060583"	"platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"	"OMIM:617718"	"Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:704"	"ARPC1B"	"OMIM:617718"	"platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 20:30:50"	""	""	"27965109, 28368018, 29127144"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARPC1B0ARPC1Bdef"	"2023-11-30"
"GENCC_000106-HGNC_746-OMIM_207900-HP_0000007-GENCC_100002"	"HGNC:746"	"ASL"	"MONDO:0008815"	"argininosuccinic aciduria"	"OMIM:207900"	"Argininosuccinic aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:746"	"ASL"	"OMIM:207900"	"argininosuccinic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"207900, 2263616, 24166829, 7137886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASL0ASL02"	"2023-11-30"
"GENCC_000106-HGNC_753-OMIM_615574-HP_0000007-GENCC_100002"	"HGNC:753"	"ASNS"	"MONDO:0014258"	"congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"	"OMIM:615574"	"Asparagine synthetase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:753"	"ASNS"	"OMIM:615574"	"congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-23 12:28:56"	""	""	"120748, 120784, 121206, 24139043, 25227173, 25663424, 26318253, 27422383, 27743885, 30057589"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASNS0AsparagineSyn"	"2023-11-30"
"GENCC_000106-HGNC_756-OMIM_271900-HP_0000007-GENCC_100002"	"HGNC:756"	"ASPA"	"MONDO:0010079"	"Canavan disease"	"OMIM:271900"	"Canavan disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:756"	"ASPA"	"OMIM:271900"	"Canavan disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"12638939"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASPA0Canavan"	"2023-11-30"
"GENCC_000106-HGNC_758-OMIM_215700-HP_0000007-GENCC_100002"	"HGNC:758"	"ASS1"	"MONDO:0008988"	"citrullinemia type I"	"OMIM:215700"	"Citrullinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:758"	"ASS1"	"OMIM:215700"	"citrullinemia type I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"12815590, 18473344, 19006241, 215700"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASS10Citrullinemia"	"2023-11-30"
"GENCC_000106-HGNC_791-OMIM_616517-HP_0000007-GENCC_100002"	"HGNC:791"	"ATF6"	"MONDO:0014677"	"achromatopsia 7"	"OMIM:616517"	"Achromatopsia 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:791"	"ATF6"	"OMIM:616517"	"achromatopsia 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-17 14:57:05"	""	""	"26029869, 26063662, 26070061, 28041643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATF60Achromatopsia"	"2023-11-30"
"GENCC_000106-HGNC_853-OMIM_267300-HP_0000007-GENCC_100002"	"HGNC:853"	"ATP6V1B1"	"MONDO:0009968"	"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"	"OMIM:267300"	"Distal renal tubular acidosis 2 with progressive sensorineural hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:853"	"ATP6V1B1"	"OMIM:267300"	"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 19:56:48"	""	""	"454446, 12414817, 18368028, 18798332, 23923981, 25164082, 27247958, 9916796"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V1B10ATP6V1B1rel"	"2023-11-30"
"GENCC_000106-HGNC_870-OMIM_277900-HP_0000007-GENCC_100002"	"HGNC:870"	"ATP7B"	"MONDO:0010200"	"Wilson disease"	"OMIM:277900"	"Wilson disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:870"	"ATP7B"	"OMIM:277900"	"Wilson disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 14:08:51"	""	""	"10441329, 16283883, 23518715, 277900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP7B0Wilson02"	"2023-11-30"
"GENCC_000106-HGNC_890-OMIM_250950-HP_0000007-GENCC_100002"	"HGNC:890"	"AUH"	"MONDO:0009610"	"3-methylglutaconic aciduria type 1"	"OMIM:250950"	"3-methylglutaconic aciduria, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:890"	"AUH"	"OMIM:250950"	"3-methylglutaconic aciduria type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"12655555, 20855850, 20882351, 250950"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AUH03Methyl"	"2023-11-30"
"GENCC_000106-HGNC_14262-OMIM_615834-HP_0000006-GENCC_100002"	"HGNC:14262"	"AUTS2"	"MONDO:0014361"	"autism spectrum disorder due to AUTS2 deficiency"	"OMIM:615834"	"Intellectual developmental disorder, autosomal dominant 26"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14262"	"AUTS2"	"OMIM:615834"	"autism spectrum disorder due to AUTS2 deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 14:58:23"	""	""	"23332918, 24776741, 25205402, 27075013, 34573342, 35032046, 35802027"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AUTS20ID"	"2023-11-30"
"GENCC_000106-HGNC_950-OMIM_614327-HP_0000006-GENCC_100002"	"HGNC:950"	"BAP1"	"MONDO:0013692"	"BAP1-related tumor predisposition syndrome"	"OMIM:614327"	"Tumor predisposition syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:950"	"BAP1"	"OMIM:614327"	"BAP1-related tumor predisposition syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-22 20:13:44"	""	""	"21874000, 22889334, 22935333, 23684012, 23849051, 25900292, 26096145, 26140217, 26765459, 28170043, 28724667, 28767289, 28793149, 29988936, 30039884, 30517737, 32325837, 603089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BAP10BAP1relCanc"	"2023-11-30"
"GENCC_000106-HGNC_16902-OMIM_614923-HP_0000007-GENCC_100002"	"HGNC:16902"	"BCKDK"	"MONDO:0013970"	"branched-chain keto acid dehydrogenase kinase deficiency"	"OMIM:614923"	"Branched-chain keto acid dehydrogenase kinase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16902"	"BCKDK"	"OMIM:614923"	"branched-chain keto acid dehydrogenase kinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-15 17:50:22"	""	""	"16875466, 22956686, 24449431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCKDK0BranKetoDehyd"	"2023-11-30"
"GENCC_000106-HGNC_13221-OMIM_617101-HP_0000006-GENCC_100002"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"Dias-Logan syndrome"	"OMIM:617101"	"Dias-Logan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13221"	"BCL11A"	"OMIM:617101"	"Dias-Logan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 20:25:51"	""	""	"27453576"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCL11A0Dias-Log"	"2023-11-30"
"GENCC_000106-HGNC_1058-OMIM_210900-HP_0000007-GENCC_100002"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"OMIM:210900"	"Bloom syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1058"	"BLM"	"OMIM:210900"	"Bloom syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:04:28"	""	""	"17407155, 30055079, 8022833"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BLM0Bloom"	"2023-11-30"
"GENCC_000106-HGNC_1076-OMIM_174900-HP_0000006-GENCC_100002"	"HGNC:1076"	"BMPR1A"	"MONDO:0017380"	"juvenile polyposis syndrome"	"OMIM:174900"	"Polyposis, juvenile intestinal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1076"	"BMPR1A"	"OMIM:174900"	"generalized juvenile polyposis/juvenile polyposis coli"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 15:02:59"	""	""	"11381269, 11536076, 12221036, 12417513, 15781876, 16150854, 16525031, 17303595, 17573831, 19438883, 19762341, 20859198, 22846733, 22965402, 23433720, 25389115, 25645574, 2705469, 9393997, 9869523"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMPR1A0JPS"	"2023-11-30"
"GENCC_000106-HGNC_1078-OMIM_178600-HP_0000006-GENCC_100002"	"HGNC:1078"	"BMPR2"	"MONDO:0024533"	"pulmonary hypertension, primary, 1"	"OMIM:178600"	"Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1078"	"BMPR2"	"OMIM:178600"	"pulmonary hypertension, primary, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-07 15:36:37"	""	""	"11015450, 11484688, 16429395, 16728714, 18159113, 22923661"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMPR20PulmHypertens"	"2023-11-30"
"GENCC_000106-HGNC_1122-OMIM_253260-HP_0000007-GENCC_100002"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"biotinidase deficiency"	"OMIM:253260"	"Biotinidase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1122"	"BTD"	"OMIM:253260"	"biotinidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:01:41"	""	""	"20083419, 253260"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BTD0BTDdef02"	"2023-11-30"
"GENCC_000106-HGNC_1377-OMIM_615751-HP_0000007-GENCC_100002"	"HGNC:1377"	"CA5A"	"MONDO:0014332"	"hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	"OMIM:615751"	"Hyperammonemia due to carbonic anhydrase VA deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1377"	"CA5A"	"OMIM:615751"	"hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-17 00:44:30"	""	""	"23589845, 24530203, 26913920"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CA5A0Hyperammon"	"2023-11-30"
"GENCC_000106-HGNC_1385-OMIM_614899-HP_0000007-GENCC_100002"	"HGNC:1385"	"CABP2"	"MONDO:0013963"	"autosomal recessive nonsyndromic hearing loss 93"	"OMIM:614899"	"Deafness, autosomal recessive 93"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1385"	"CABP2"	"OMIM:614899"	"autosomal recessive nonsyndromic hearing loss 93"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:56:43"	""	""	"22981119, 26226137, 28183797"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CABP20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_1550-OMIM_236200-HP_0000007-GENCC_100002"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"classic homocystinuria"	"OMIM:236200"	"Homocystinuria, B6-responsive and nonresponsive types"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1550"	"CBS"	"OMIM:236200"	"classic homocystinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-01 08:33:38"	""	""	"10338090, 12124992, 236200, 24211323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CBS0CBSDef"	"2023-11-30"
"GENCC_000106-HGNC_1699-OMIM_612692-HP_0000007-GENCC_100002"	"HGNC:1699"	"CD79B"	"MONDO:0012987"	"agammaglobulinemia 6, autosomal recessive"	"OMIM:612692"	"Agammaglobulinemia 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1699"	"CD79B"	"OMIM:612692"	"agammaglobulinemia 6, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"17675462, 17709424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD79B0Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_1748-OMIM_137215-HP_0000006-GENCC_100002"	"HGNC:1748"	"CDH1"	"MONDO:0100488"	"CDH1-related diffuse gastric and lobular breast cancer syndrome"	"OMIM:137215"	"Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1748"	"CDH1"	"OMIM:137215"	"hereditary diffuse gastric adenocarcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 16:02:27"	""	""	"10072428, 11729114, 12417969, 15235021, 15831593, 16061854, 17545690, 19268661, 20373070, 20591882, 23124477, 25979631, 26182300, 29522266, 31246251, 31296550, 31638429, 32758476, 7748170, 8058792, 8598933, 951596, 9515965, 9537325"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH10HDGC"	"2023-11-30"
"GENCC_000106-HGNC_1773-OMIM_609048-HP_0000006-GENCC_100002"	"HGNC:1773"	"CDK4"	"MONDO:0012183"	"melanoma, cutaneous malignant, susceptibility to, 3"	"OMIM:609048"	"{Melanoma, cutaneous malignant, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1773"	"CDK4"	"OMIM:609048"	"melanoma, cutaneous malignant, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-15 17:42:01"	""	""	"11828258, 12406321, 15241418, 15880589, 15951821, 17047042, 19585149, 23384855, 30775140, 33077847, 7652577, 8528263, 9425228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDK40FamMelanoma"	"2023-11-30"
"GENCC_000106-HGNC_11411-OMIM_300672-HP_0001417-GENCC_100002"	"HGNC:11411"	"CDKL5"	"MONDO:0010396"	"developmental and epileptic encephalopathy, 2"	"OMIM:300672"	"Developmental and epileptic encephalopathy 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11411"	"CDKL5"	"OMIM:300672"	"developmental and epileptic encephalopathy, 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-13 20:41:16"	""	""	"19428276, 21775177, 22872100, 23242510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDKL50EIEE"	"2023-11-30"
"GENCC_000106-HGNC_1787-OMIM_606719-HP_0000006-GENCC_100002"	"HGNC:1787"	"CDKN2A"	"MONDO:0011713"	"melanoma-pancreatic cancer syndrome"	"OMIM:606719"	"{Melanoma-pancreatic cancer syndrome}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1787"	"CDKN2A"	"OMIM:606719"	"melanoma-pancreatic cancer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 07:03:35"	""	""	"10338331, 12406321, 15146471, 16905682, 17063143, 20340136, 600160"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDKN2A0FamMelanoma"	"2023-11-30"
"GENCC_000106-HGNC_30794-OMIM_614114-HP_0000007-GENCC_100002"	"HGNC:30794"	"CEP57"	"MONDO:0013582"	"mosaic variegated aneuploidy syndrome 2"	"OMIM:614114"	"Mosaic variegated aneuploidy syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30794"	"CEP57"	"OMIM:614114"	"mosaic variegated aneuploidy syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-19 17:19:53"	""	""	"10429359, 10877982, 15475955, 21552266, 24259107, 30010053, 30147898, 30202406, 32861809, 34500087, 35434947"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP570MVA"	"2023-11-30"
"GENCC_000106-HGNC_25740-OMIM_617236-HP_0000007-GENCC_100002"	"HGNC:25740"	"CEP78"	"MONDO:0020778"	"cone-rod dystrophy and hearing loss 1"	"OMIM:617236"	"Cone-rod dystrophy and hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25740"	"CEP78"	"OMIM:617236"	"cone-rod dystrophy and hearing loss 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-16 19:53:45"	""	""	"27588451, 27588452, 27627988"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP780ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_1875-OMIM_610687-HP_0000007-GENCC_100002"	"HGNC:1875"	"CFL2"	"MONDO:0012538"	"nemaline myopathy 7"	"OMIM:610687"	"Nemaline myopathy 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1875"	"CFL2"	"OMIM:610687"	"nemaline myopathy 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-19 09:30:42"	""	""	"17160903, 22560515, 24610938, 27447704, 27848944, 29457652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFL20NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_1940-OMIM_303100-HP_0001417-GENCC_100002"	"HGNC:1940"	"CHM"	"MONDO:0010557"	"choroideremia"	"OMIM:303100"	"Choroideremia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1940"	"CHM"	"OMIM:303100"	"choroideremia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-19 16:21:20"	""	""	"10447648, 12203991, 1302003, 14983050, 15242790, 23273018, 23811034, 27070432, 9067750, 9175730"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHM0Choroideremia"	"2023-11-30"
"GENCC_000106-HGNC_1958-OMIM_600513-HP_0000006-GENCC_100002"	"HGNC:1958"	"CHRNA4"	"MONDO:0010899"	"autosomal dominant nocturnal frontal lobe epilepsy 1"	"OMIM:600513"	"Epilepsy, nocturnal frontal lobe, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1958"	"CHRNA4"	"OMIM:600513"	"autosomal dominant nocturnal frontal lobe epilepsy 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 14:15:12"	""	""	"10563623, 10771020, 12887446, 14623738, 14623788, 20189461, 22036597, 25282705, 26309560, 30034362"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNA40ADNFLE"	"2023-11-30"
"GENCC_000106-HGNC_24212-OMIM_604928-HP_0000007-GENCC_100002"	"HGNC:24212"	"CISD2"	"MONDO:0011502"	"Wolfram syndrome 2"	"OMIM:604928"	"Wolfram syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24212"	"CISD2"	"OMIM:604928"	"Wolfram syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:54"	""	""	"17846994, 19451219, 24833725, 25056293, 25371195, 28335035, 31391115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CISD20Wolfram"	"2023-11-30"
"GENCC_000106-HGNC_2035-OMIM_614035-HP_0000007-GENCC_100002"	"HGNC:2035"	"CLDN14"	"MONDO:0013537"	"autosomal recessive nonsyndromic hearing loss 29"	"OMIM:614035"	"Deafness, autosomal recessive 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2035"	"CLDN14"	"OMIM:614035"	"autosomal recessive nonsyndromic hearing loss 29"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"11163249, 12913076, 22246673, 22903915, 23235333, 246804, 281092, 33713422"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLDN140Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2084-OMIM_614129-HP_0000007-GENCC_100002"	"HGNC:2084"	"CLPP"	"MONDO:0013588"	"Perrault syndrome 3"	"OMIM:614129"	"Perrault syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2084"	"CLPP"	"OMIM:614129"	"Perrault syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-27 14:28:39"	""	""	"23541340, 25956234, 26970254, 27087618, 27650058, 27899912, 30369941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLPP0Perrault"	"2023-11-30"
"GENCC_000106-HGNC_2323-OMIM_237300-HP_0000007-GENCC_100002"	"HGNC:2323"	"CPS1"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"OMIM:237300"	"Carbamoylphosphate synthetase I deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2323"	"CPS1"	"OMIM:237300"	"carbamoyl phosphate synthetase I deficiency disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-28 15:40:47"	""	""	"21120950, 21837743, 237300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPS10CPSdef02"	"2023-11-30"
"GENCC_000106-HGNC_2328-OMIM_255120-HP_0000007-GENCC_100002"	"HGNC:2328"	"CPT1A"	"MONDO:0009705"	"carnitine palmitoyl transferase 1A deficiency"	"OMIM:255120"	"CPT deficiency, hepatic, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2328"	"CPT1A"	"OMIM:255120"	"carnitine palmitoyl transferase 1A deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-18 07:49:31"	""	""	"12189492, 16169268, 20696606, 255120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPT1A0CPT1Adef02"	"2023-11-30"
"GENCC_000106-HGNC_2348-OMIM_180849-HP_0000006-GENCC_100002"	"HGNC:2348"	"CREBBP"	"MONDO:0008393"	"Rubinstein-Taybi syndrome due to CREBBP mutations"	"OMIM:180849"	"Rubinstein-Taybi syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2348"	"CREBBP"	"OMIM:180849"	"Rubinstein-Taybi syndrome due to CREBBP mutations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-25 16:08:01"	""	""	"11331617, 12566391, 17052327, 18792986, 20664634, 20684013, 25388907, 600140, 7630403"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CREBBP0RubinstTaybi"	"2023-11-30"
"GENCC_000106-HGNC_2482-OMIM_254800-HP_0000007-GENCC_100002"	"HGNC:2482"	"CSTB"	"MONDO:0009698"	"Unverricht-Lundborg syndrome"	"OMIM:254800"	"Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2482"	"CSTB"	"OMIM:254800"	"Unverricht-Lundborg syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 19:54:51"	""	""	"22157618, 26843564, 8596935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSTB0EPM1"	"2023-11-30"
"GENCC_000106-HGNC_2529-OMIM_610127-HP_0000007-GENCC_100002"	"HGNC:2529"	"CTSD"	"MONDO:0012414"	"neuronal ceroid lipofuscinosis 10"	"OMIM:610127"	"Ceroid lipofuscinosis, neuronal, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2529"	"CTSD"	"OMIM:610127"	"neuronal ceroid lipofuscinosis 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 11:55:28"	""	""	"16670177, 26059544, 29373990, 32421885"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSD0CLN"	"2023-11-30"
"GENCC_000106-HGNC_2555-OMIM_300354-HP_0001417-GENCC_100002"	"HGNC:2555"	"CUL4B"	"MONDO:0010306"	"X-linked intellectual disability, Cabezas type"	"OMIM:300354"	"Intellectual developmental disorder, X-linked syndromic, Cabezas type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2555"	"CUL4B"	"OMIM:300354"	"X-linked intellectual disability, Cabezas type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-14 22:07:08"	""	""	"17236139, 19377476, 25385192, 300304"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CUL4B0Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_2718-OMIM_278740-HP_0000007-GENCC_100002"	"HGNC:2718"	"DDB2"	"MONDO:0010213"	"xeroderma pigmentosum group E"	"OMIM:278740"	"Xeroderma pigmentosum, group E, DDB-negative subtype"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2718"	"DDB2"	"OMIM:278740"	"xeroderma pigmentosum group E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-25 19:06:22"	""	""	"10469312, 26884178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDB20XP"	"2023-11-30"
"GENCC_000106-HGNC_2860-OMIM_270400-HP_0000007-GENCC_100002"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"OMIM:270400"	"Smith-Lemli-Opitz syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2860"	"DHCR7"	"OMIM:270400"	"Smith-Lemli-Opitz syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-19 07:40:40"	""	""	"10677299, 10814720, 11175299, 11230174, 16044199, 20635399, 9634533, 9653161, 9683613"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHCR70SLO"	"2023-11-30"
"GENCC_000106-HGNC_17098-OMIM_601200-HP_0000006-GENCC_100002"	"HGNC:17098"	"DICER1"	"MONDO:0011014"	"pleuropulmonary blastoma"	"OMIM:601200"	"Pleuropulmonary blastoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17098"	"DICER1"	"OMIM:601200"	"pleuropulmonary blastoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-28 20:55:51"	""	""	"19556464, 21205968, 21266384, 24676357, 25451712, 26983701, 30715996, 33630087, 33782093, 33872107, 34377011, 34552563, 34677675, 34761719"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DICER10DICER1"	"2023-11-30"
"GENCC_000106-HGNC_2898-OMIM_246900-HP_0000007-GENCC_100002"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"OMIM:246900"	"Dihydrolipoamide dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2898"	"DLD"	"OMIM:246900"	"pyruvate dehydrogenase E3 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:05"	""	""	"21914562, 21930696, 24012808, 8968745, 9298831, 9405644, 9934985"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLD0DihydroLipo"	"2023-11-30"
"GENCC_000106-HGNC_2902-OMIM_300850-HP_0001417-GENCC_100002"	"HGNC:2902"	"DLG3"	"MONDO:0010452"	"intellectual disability, X-linked 90"	"OMIM:300850"	"Intellectual developmental disorder, X-linked 90"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2902"	"DLG3"	"OMIM:300850"	"intellectual disability, X-linked 90"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:05"	""	""	"15185169, 24721225, 25649377"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLG30XLID"	"2023-11-30"
"GENCC_000106-HGNC_28908-OMIM_617384-HP_0000007-GENCC_100002"	"HGNC:28908"	"DNAJC12"	"MONDO:0044304"	"hyperphenylalaninemia due to DNAJC12 deficiency"	"OMIM:617384"	"Hyperphenylalaninemia, mild, non-BH4-deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28908"	"DNAJC12"	"OMIM:617384"	"hyperphenylalaninemia due to DNAJC12 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 19:34:07"	""	""	"28132689, 28794131, 28892570, 30139987, 37156708"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJC120Hyperphe"	"2023-11-30"
"GENCC_000106-HGNC_3151-OMIM_616277-HP_0000007-GENCC_100002"	"HGNC:3151"	"ECHS1"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"OMIM:616277"	"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3151"	"ECHS1"	"OMIM:616277"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-25 15:44:53"	""	""	"25125611, 25393721, 26000322, 26081110, 26099313, 27090768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ECHS10MitoEnoylCoA"	"2023-11-30"
"GENCC_000106-HGNC_3226-OMIM_304110-HP_0001417-GENCC_100002"	"HGNC:3226"	"EFNB1"	"MONDO:0010570"	"craniofrontonasal syndrome"	"OMIM:304110"	"Craniofrontonasal dysplasia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3226"	"EFNB1"	"OMIM:304110"	"craniofrontonasal syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-06 13:41:42"	""	""	"15166289, 15959873, 16685650"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EFNB10Frontonasal"	"2023-11-30"
"GENCC_000106-HGNC_24650-OMIM_610253-HP_0000006-GENCC_100002"	"HGNC:24650"	"EHMT1"	"MONDO:0027407"	"Kleefstra syndrome 1"	"OMIM:610253"	"Kleefstra syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24650"	"EHMT1"	"OMIM:610253"	"Kleefstra syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-27 15:12:46"	""	""	"16826528, 19264732, 22670141"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EHMT10Kleefstra"	"2023-11-30"
"GENCC_000106-HGNC_3413-OMIM_254780-HP_0000007-GENCC_100002"	"HGNC:3413"	"EPM2A"	"MONDO:0009697"	"Lafora disease"	"OMIM:254780"	"Myoclonic epilepsy of Lafora 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3413"	"EPM2A"	"OMIM:254780"	"Lafora disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:43:56"	""	""	"17389303, 17509003, 20301563, 20738377, 9771710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPM2A0EPM1"	"2023-11-30"
"GENCC_000106-HGNC_3435-OMIM_610651-HP_0000007-GENCC_100002"	"HGNC:3435"	"ERCC3"	"MONDO:0012531"	"xeroderma pigmentosum group B"	"OMIM:610651"	"Xeroderma pigmentosum, group B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3435"	"ERCC3"	"OMIM:610651"	"xeroderma pigmentosum group B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 18:20:01"	""	""	"16947863, 1916809, 2167179, 26884178, 27004399"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC30XP"	"2023-11-30"
"GENCC_000106-HGNC_3481-OMIM_231680-HP_0000007-GENCC_100002"	"HGNC:3481"	"ETFA"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"OMIM:231680"	"Glutaric acidemia IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3481"	"ETFA"	"OMIM:231680"	"multiple acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-19 14:43:10"	""	""	"12815589, 16510302, 17584774, 21347544, 231680, 23785301, 25200064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ETFA0GlutAciduria2"	"2023-11-30"
"GENCC_000106-HGNC_3495-OMIM_616216-HP_0000006-GENCC_100002"	"HGNC:3495"	"ETV6"	"MONDO:0014536"	"thrombocytopenia 5"	"OMIM:616216"	"Thrombocytopenia 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3495"	"ETV6"	"OMIM:616216"	"thrombocytopenia 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-24 05:23:27"	""	""	"25581430, 258072821, 25807284, 26102509, 27663637"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ETV60ThrombLeuk"	"2023-11-30"
"GENCC_000106-HGNC_3512-OMIM_133700-HP_0000006-GENCC_100002"	"HGNC:3512"	"EXT1"	"MONDO:0007585"	"exostoses, multiple, type 1"	"OMIM:133700"	"Exostoses, multiple, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3512"	"EXT1"	"OMIM:133700"	"exostoses, multiple, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 19:53:09"	""	""	"10679937, 11391482, 18853760, 19810120, 9272707"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXT10Exostoses"	"2023-11-30"
"GENCC_000106-HGNC_3519-OMIM_113650-HP_0000006-GENCC_100002"	"HGNC:3519"	"EYA1"	"MONDO:0007236"	"branchiootorenal syndrome 1"	"OMIM:113650"	"Branchiootorenal syndrome 1, with or without cataracts"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3519"	"EYA1"	"OMIM:113650"	"branchiootorenal syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-15 17:34:50"	""	""	"10464653, 10991693, 18220287, 23435380"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EYA10Branciootorenal"	"2023-11-30"
"GENCC_000106-HGNC_3528-OMIM_227600-HP_0000007-GENCC_100002"	"HGNC:3528"	"F10"	"MONDO:0009212"	"congenital factor X deficiency"	"OMIM:227600"	"Factor X deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3528"	"F10"	"OMIM:227600"	"congenital factor X deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"10739370, 10746568, 18036190, 19108874, 22008904"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F100FactorXD"	"2023-11-30"
"GENCC_000106-HGNC_3534-OMIM_613235-HP_0000007-GENCC_100002"	"HGNC:3534"	"F13B"	"MONDO:0013190"	"factor XIII, b subunit, deficiency of"	"OMIM:613235"	"Factor XIIIB deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3534"	"F13B"	"OMIM:613235"	"factor XIII, b subunit, deficiency of"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"11313256, 20331752, 21640452, 8324218, 8639893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F13B0F13BDef"	"2023-11-30"
"GENCC_000106-HGNC_3546-OMIM_306700-HP_0001417-GENCC_100002"	"HGNC:3546"	"F8"	"MONDO:0010602"	"hemophilia A"	"OMIM:306700"	"Hemophilia A"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3546"	"F8"	"OMIM:306700"	"hemophilia A"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:07"	""	""	"11110718, 12351418, 16086318, 16972227, 22103590, 23913812, 8486358"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F80HemophiliaA"	"2023-11-30"
"GENCC_000106-HGNC_3579-OMIM_276700-HP_0000007-GENCC_100002"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"tyrosinemia type I"	"OMIM:276700"	"Tyrosinemia, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3579"	"FAH"	"OMIM:276700"	"tyrosinemia type I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-02 22:57:48"	""	""	"26565546, 276700, 9101289, 9633815"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAH0Tyrosinemia102"	"2023-11-30"
"GENCC_000106-HGNC_3586-OMIM_600901-HP_0000007-GENCC_100002"	"HGNC:3586"	"FANCE"	"MONDO:0010953"	"Fanconi anemia complementation group E"	"OMIM:600901"	"Fanconi anemia, complementation group E"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3586"	"FANCE"	"OMIM:600901"	"Fanconi anemia complementation group E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-17 12:55:40"	""	""	"11001585, 16127171, 17308347, 17924555"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCE0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_3587-OMIM_603467-HP_0000007-GENCC_100002"	"HGNC:3587"	"FANCF"	"MONDO:0011325"	"Fanconi anemia complementation group F"	"OMIM:603467"	"Fanconi anemia, complementation group F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3587"	"FANCF"	"OMIM:603467"	"Fanconi anemia complementation group F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-04 17:09:34"	""	""	"10615118, 16084127"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCF0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_3588-OMIM_614082-HP_0000007-GENCC_100002"	"HGNC:3588"	"FANCG"	"MONDO:0013565"	"Fanconi anemia complementation group G"	"OMIM:614082"	"Fanconi anemia, complementation group G"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3588"	"FANCG"	"OMIM:614082"	"Fanconi anemia complementation group G"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:26:12"	""	""	"12552564, 15657175, 9806548"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCG0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_20748-OMIM_614083-HP_0000007-GENCC_100002"	"HGNC:20748"	"FANCL"	"MONDO:0013566"	"Fanconi anemia complementation group L"	"OMIM:614083"	"Fanconi anemia, complementation group L"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20748"	"FANCL"	"OMIM:614083"	"Fanconi anemia complementation group L"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"12973351, 19405097, 23613520"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCL0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_23151-OMIM_612840-HP_0000007-GENCC_100002"	"HGNC:23151"	"FERMT3"	"MONDO:0013016"	"leukocyte adhesion deficiency 3"	"OMIM:612840"	"Leukocyte adhesion deficiency, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23151"	"FERMT3"	"OMIM:612840"	"leukocyte adhesion deficiency 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-12 09:46:08"	""	""	"18278053, 19064721, 19234460, 19234463, 20357244, 22134107"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FERMT30LeukocyteAdhes"	"2023-11-30"
"GENCC_000106-HGNC_19125-OMIM_609311-HP_0000007-GENCC_100002"	"HGNC:19125"	"FGD4"	"MONDO:0012250"	"Charcot-Marie-Tooth disease type 4H"	"OMIM:609311"	"Charcot-Marie-Tooth disease, type 4H"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19125"	"FGD4"	"OMIM:609311"	"Charcot-Marie-Tooth disease type 4H"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-01 19:59:27"	""	""	"153601, 15744041, 17564972, 23171661"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGD40CMT"	"2023-11-30"
"GENCC_000106-HGNC_3681-OMIM_610706-HP_0000007-GENCC_100002"	"HGNC:3681"	"FGF3"	"MONDO:0012541"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"OMIM:610706"	"Deafness, congenital with inner ear agenesis, microtia, and microdontia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3681"	"FGF3"	"OMIM:610706"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-21 16:54:12"	""	""	"14623822, 17236138, 18435799, 18701883, 21306635, 21480479, 21752681, 25432227, 8223243"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF30Deafness"	"2023-11-30"
"GENCC_000106-HGNC_24671-OMIM_255100-HP_0000007-GENCC_100002"	"HGNC:24671"	"FLAD1"	"MONDO:0009703"	"myopathy with abnormal lipid metabolism"	"OMIM:255100"	"Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24671"	"FLAD1"	"OMIM:255100"	"myopathy with abnormal lipid metabolism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:19:57"	""	""	"27259049"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLAD10LipidSto"	"2023-11-30"
"GENCC_000106-HGNC_27310-OMIM_135150-HP_0000006-GENCC_100002"	"HGNC:27310"	"FLCN"	"MONDO:0007607"	"Birt-Hogg-Dube syndrome"	"OMIM:135150"	"Birt-Hogg-Dube syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:27310"	"FLCN"	"OMIM:135150"	"Birt-Hogg-Dube syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 15:51:58"	""	""	"15657874, 15852235, 18234728, 22146830, 25519092, 25519458, 27514594"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLCN0BirtHogg"	"2023-11-30"
"GENCC_000106-HGNC_3771-OMIM_602079-HP_0000007-GENCC_100002"	"HGNC:3771"	"FMO3"	"MONDO:0018767"	"severe primary trimethylaminuria"	"OMIM:602079"	"Trimethylaminuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3771"	"FMO3"	"OMIM:602079"	"trimethylaminuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"20301282"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FMO30Trimethy"	"2023-11-30"
"GENCC_000106-HGNC_3791-OMIM_613068-HP_0000007-GENCC_100002"	"HGNC:3791"	"FOLR1"	"MONDO:0013110"	"neurodegenerative syndrome due to cerebral folate transport deficiency"	"OMIM:613068"	"Neurodegeneration due to cerebral folate transport deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3791"	"FOLR1"	"OMIM:613068"	"neurodegenerative syndrome due to cerebral folate transport deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 12:37:39"	""	""	"19732866, 22586289, 25046240, 25274592"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOLR10CerebFolateDef"	"2023-11-30"
"GENCC_000106-HGNC_3811-OMIM_613454-HP_0000006-GENCC_100002"	"HGNC:3811"	"FOXG1"	"MONDO:0013270"	"Rett syndrome, congenital variant"	"OMIM:613454"	"Rett syndrome, congenital variant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3811"	"FOXG1"	"OMIM:613454"	"Rett syndrome, congenital variant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-07 19:46:45"	""	""	"19564653, 19578037, 19806373, 22129046, 24139857, 24836831, 30533527, 37308910"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXG10Rett0congVar"	"2023-11-30"
"GENCC_000106-HGNC_13875-OMIM_602081-HP_0000006-GENCC_100002"	"HGNC:13875"	"FOXP2"	"MONDO:0011184"	"childhood apraxia of speech"	"OMIM:602081"	"Speech-language disorder-1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13875"	"FOXP2"	"OMIM:602081"	"childhood apraxia of speech"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 20:42:02"	""	""	"15877281, 15983371, 16984964, 17033973, 22766611, 23918746, 27336128"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXP20SpeechDis"	"2023-11-30"
"GENCC_000106-HGNC_4136-OMIM_612736-HP_0000007-GENCC_100002"	"HGNC:4136"	"GAMT"	"MONDO:0012999"	"guanidinoacetate methyltransferase deficiency"	"OMIM:612736"	"Cerebral creatine deficiency syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4136"	"GAMT"	"OMIM:612736"	"guanidinoacetate methyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:18:56"	""	""	"15108290, 16855203"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GAMT0CreatineCereb"	"2023-11-30"
"GENCC_000106-HGNC_4172-OMIM_146255-HP_0000006-GENCC_100002"	"HGNC:4172"	"GATA3"	"MONDO:0007797"	"hypoparathyroidism-deafness-renal disease syndrome"	"OMIM:146255"	"Hypoparathyroidism, sensorineural deafness, and renal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4172"	"GATA3"	"OMIM:146255"	"hypoparathyroidism-deafness-renal disease syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 20:30:46"	""	""	"10835639, 10935639, 14985365, 15207274, 16912130, 17210674, 21242646, 7550312"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATA30Hypoparathy"	"2023-11-30"
"GENCC_000106-HGNC_4189-OMIM_231670-HP_0000007-GENCC_100002"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"OMIM:231670"	"Glutaricaciduria, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4189"	"GCDH"	"OMIM:231670"	"glutaryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-22 10:07:51"	""	""	"10699052, 11854167, 16602100, 231670, 28438223"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCDH0GlutAciduria102"	"2023-11-30"
"GENCC_000106-HGNC_18183-OMIM_601869-HP_0000007-GENCC_100002"	"HGNC:18183"	"GIPC3"	"MONDO:0011160"	"autosomal recessive nonsyndromic hearing loss 15"	"OMIM:601869"	"Deafness, autosomal recessive 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18183"	"GIPC3"	"OMIM:601869"	"autosomal recessive nonsyndromic hearing loss 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-07 14:22:42"	""	""	"17690910, 21326233, 21660509, 23510777, 249904, 25296581, 26029705, 26226137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GIPC30Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4283-OMIM_302800-HP_0001417-GENCC_100002"	"HGNC:4283"	"GJB1"	"MONDO:0010549"	"Charcot-Marie-Tooth disease X-linked dominant 1"	"OMIM:302800"	"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4283"	"GJB1"	"OMIM:302800"	"Charcot-Marie-Tooth disease X-linked dominant 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 18:24:45"	""	""	"10586261, 11266688, 15006706, 16775370, 17100997, 26873881, 3476859, 8266101"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB10CMT"	"2023-11-30"
"GENCC_000106-HGNC_4296-OMIM_301500-HP_0001417-GENCC_100002"	"HGNC:4296"	"GLA"	"MONDO:0010526"	"Fabry disease"	"OMIM:301500"	"Fabry disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4296"	"GLA"	"OMIM:301500"	"Fabry disease"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-13 21:14:32"	""	""	"10666480, 12175777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLA0Fabry"	"2023-11-30"
"GENCC_000106-HGNC_4416-OMIM_222765-HP_0000007-GENCC_100002"	"HGNC:4416"	"GNPAT"	"MONDO:0009112"	"rhizomelic chondrodysplasia punctata type 2"	"OMIM:222765"	"Rhizomelic chondrodysplasia punctata, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4416"	"GNPAT"	"OMIM:222765"	"rhizomelic chondrodysplasia punctata type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-20 18:14:52"	""	""	"11152660, 12874108, 19270340, 20583171, 21990100, 9536089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNPAT0ChondrodysPunct"	"2023-11-30"
"GENCC_000106-HGNC_14388-OMIM_614201-HP_0000007-GENCC_100002"	"HGNC:14388"	"GP6"	"MONDO:0013623"	"platelet-type bleeding disorder 11"	"OMIM:614201"	"Bleeding disorder, platelet-type, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14388"	"GP6"	"OMIM:614201"	"platelet-type bleeding disorder 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"16139873, 19549989, 19552682, 23815599"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GP60GPVIdef"	"2023-11-30"
"GENCC_000106-HGNC_4444-OMIM_231200-HP_0000007-GENCC_100002"	"HGNC:4444"	"GP9"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"OMIM:231200"	"Bernard-Soulier syndrome, type B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4444"	"GP9"	"OMIM:231200"	"Bernard-Soulier syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"20497174, 21173099, 21699652, 23995613, 24934643, 8772211"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GP90BernardSoulier"	"2023-11-30"
"GENCC_000106-HGNC_4451-OMIM_312870-HP_0001417-GENCC_100002"	"HGNC:4451"	"GPC3"	"MONDO:0020602"	"Simpson-Golabi-Behmel syndrome type 1"	"OMIM:312870"	"Simpson-Golabi-Behmel syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4451"	"GPC3"	"OMIM:312870"	"Simpson-Golabi-Behmel syndrome type 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-27 15:34:32"	""	""	"10232747, 10402475, 10814714, 11477610, 12713262, 17603795, 19372699, 24115482, 25238977, 29637653, 31651874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPC30SGBS10Simpson"	"2023-11-30"
"GENCC_000106-HGNC_29501-OMIM_604213-HP_0000007-GENCC_100002"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"OMIM:604213"	"Chudley-McCullough syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29501"	"GPSM2"	"OMIM:604213"	"Chudley-McCullough syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"22578326, 22987632"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPSM20Chudley"	"2023-11-30"
"GENCC_000106-HGNC_31673-OMIM_613285-HP_0000007-GENCC_100002"	"HGNC:31673"	"GRXCR1"	"MONDO:0013210"	"autosomal recessive nonsyndromic hearing loss 25"	"OMIM:613285"	"Deafness, autosomal recessive 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:31673"	"GRXCR1"	"OMIM:613285"	"autosomal recessive nonsyndromic hearing loss 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:41:04"	""	""	"15347914, 20137774, 20137778, 248890, 249274, 26226137, 26445815, 26969326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRXCR10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4799-OMIM_609975-HP_0000007-GENCC_100002"	"HGNC:4799"	"HADH"	"MONDO:0012382"	"hyperinsulinemic hypoglycemia, familial, 4"	"OMIM:609975"	"Hyperinsulinemic hypoglycemia, familial, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4799"	"HADH"	"OMIM:609975"	"hyperinsulinemic hypoglycemia, familial, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"26316438, 8825408"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HADH0MS3HCoA"	"2023-11-30"
"GENCC_000106-HGNC_4878-OMIM_272800-HP_0000007-GENCC_100002"	"HGNC:4878"	"HEXA"	"MONDO:0010100"	"Tay-Sachs disease"	"OMIM:272800"	"Tay-Sachs disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4878"	"HEXA"	"OMIM:272800"	"Tay-Sachs disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 15:30:51"	""	""	"1833974, 272800, 8490625, 9169471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HEXA0HEXADef"	"2023-11-30"
"GENCC_000106-HGNC_4892-OMIM_203500-HP_0000007-GENCC_100002"	"HGNC:4892"	"HGD"	"MONDO:0008753"	"alkaptonuria"	"OMIM:203500"	"Alkaptonuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4892"	"HGD"	"OMIM:203500"	"alkaptonuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:45"	""	""	"10094559, 10594001, 12501223, 19862842, 9154114"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HGD0Alkaptonuria"	"2023-11-30"
"GENCC_000106-HGNC_4908-OMIM_250620-HP_0000007-GENCC_100002"	"HGNC:4908"	"HIBCH"	"MONDO:0009603"	"3-hydroxyisobutyryl-CoA hydrolase deficiency"	"OMIM:250620"	"3-hydroxyisobutryl-CoA hydrolase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4908"	"HIBCH"	"OMIM:250620"	"3-hydroxyisobutyryl-CoA hydrolase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 05:27:19"	""	""	"17160907, 25251209, 26163321, 29703962"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HIBCH02HydroxyCoA"	"2023-11-30"
"GENCC_000106-HGNC_5005-OMIM_246450-HP_0000007-GENCC_100002"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"OMIM:246450"	"HMG-CoA lyase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5005"	"HMGCL"	"OMIM:246450"	"3-hydroxy-3-methylglutaric aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"14518825, 17692550, 23465862, 8440722, 9163320, 9817922"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMGCL0HMGCoA"	"2023-11-30"
"GENCC_000106-HGNC_5008-OMIM_605911-HP_0000007-GENCC_100002"	"HGNC:5008"	"HMGCS2"	"MONDO:0011614"	"3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	"OMIM:605911"	"HMG-CoA synthase-2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5008"	"HMGCS2"	"OMIM:605911"	"3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-17 15:05:51"	""	""	"11228257, 12072887, 16601895, 20346956, 23751782, 25511235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMGCS20HMGCoASynth"	"2023-11-30"
"GENCC_000106-HGNC_5163-OMIM_203300-HP_0000007-GENCC_100002"	"HGNC:5163"	"HPS1"	"MONDO:0008748"	"Hermansky-Pudlak syndrome 1"	"OMIM:203300"	"Hermansky-Pudlak syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5163"	"HPS1"	"OMIM:203300"	"Hermansky-Pudlak syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 09:54:37"	""	""	"12442288, 16185271, 16417222, 9497254"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPS10Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_15597-OMIM_614072-HP_0000007-GENCC_100002"	"HGNC:15597"	"HPS3"	"MONDO:0013555"	"Hermansky-Pudlak syndrome 3"	"OMIM:614072"	"Hermansky-Pudlak syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15597"	"HPS3"	"OMIM:614072"	"Hermansky-Pudlak syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 19:32:21"	""	""	"11455388, 11590544, 16417222"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPS30Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_15844-OMIM_614073-HP_0000007-GENCC_100002"	"HGNC:15844"	"HPS4"	"MONDO:0013556"	"Hermansky-Pudlak syndrome 4"	"OMIM:614073"	"Hermansky-Pudlak syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15844"	"HPS4"	"OMIM:614073"	"Hermansky-Pudlak syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 19:36:53"	""	""	"12664304, 27513596, 27514596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPS40Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_18817-OMIM_614075-HP_0000007-GENCC_100002"	"HGNC:18817"	"HPS6"	"MONDO:0013558"	"Hermansky-Pudlak syndrome 6"	"OMIM:614075"	"Hermansky-Pudlak syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18817"	"HPS6"	"OMIM:614075"	"Hermansky-Pudlak syndrome 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-22 19:22:18"	""	""	"16420244, 19843503, 2181763, 26575419, 27593200, 29345414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPS60Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_5996-OMIM_300143-HP_0001417-GENCC_100002"	"HGNC:5996"	"IL1RAPL1"	"MONDO:0010256"	"intellectual disability, X-linked 21"	"OMIM:300143"	"Intellectual developmental disorder, X-linked 21"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:5996"	"IL1RAPL1"	"OMIM:300143"	"intellectual disability, X-linked 21"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"10471494, 16470793, 17221867, 18801879, 19012350, 25167861, 26350204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL1RAPL10ID"	"2023-11-30"
"GENCC_000106-HGNC_28741-OMIM_609646-HP_0000007-GENCC_100002"	"HGNC:28741"	"ILDR1"	"MONDO:0012326"	"autosomal recessive nonsyndromic hearing loss 42"	"OMIM:609646"	"Deafness, autosomal recessive 42"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28741"	"ILDR1"	"OMIM:609646"	"autosomal recessive nonsyndromic hearing loss 42"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:07"	""	""	"21255762, 251274, 251288, 251488, 26226137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ILDR10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_6171-OMIM_613011-HP_0000007-GENCC_100002"	"HGNC:6171"	"ITK"	"MONDO:0013081"	"lymphoproliferative syndrome 1"	"OMIM:613011"	"Lymphoproliferative syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6171"	"ITK"	"OMIM:613011"	"lymphoproliferative syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-18 15:38:10"	""	""	"16860760, 22289921, 26056787, 36326697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITK0EBVlymph"	"2023-11-30"
"GENCC_000106-HGNC_6186-OMIM_243500-HP_0000007-GENCC_100002"	"HGNC:6186"	"IVD"	"MONDO:0009475"	"isovaleric acidemia"	"OMIM:243500"	"Isovaleric acidemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6186"	"IVD"	"OMIM:243500"	"isovaleric acidemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-19 14:01:55"	""	""	"16602101, 243500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IVD0Isovaleric"	"2023-11-30"
"GENCC_000106-HGNC_6231-OMIM_616056-HP_0000006-GENCC_100002"	"HGNC:6231"	"KCNB1"	"MONDO:0014477"	"developmental and epileptic encephalopathy, 26"	"OMIM:616056"	"Developmental and epileptic encephalopathy 26"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6231"	"KCNB1"	"OMIM:616056"	"developmental and epileptic encephalopathy, 26"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-20 11:33:52"	""	""	"25164438, 25473036, 26477325, 26503721, 26648591, 31513310, 32954514, 34490615, 36457583, 36618935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNB10EpilepEnceph"	"2023-11-30"
"GENCC_000106-HGNC_21957-OMIM_611726-HP_0000007-GENCC_100002"	"HGNC:21957"	"KCTD7"	"MONDO:0012721"	"progressive myoclonic epilepsy type 3"	"OMIM:611726"	"Epilepsy, progressive myoclonic 3, with or without intracellular inclusions"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21957"	"KCTD7"	"OMIM:611726"	"progressive myoclonic epilepsy type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:33:30"	""	""	"17455289, 22693283, 30500434"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCTD70EPM1"	"2023-11-30"
"GENCC_000106-HGNC_4021-OMIM_617526-HP_0000007-GENCC_100002"	"HGNC:4021"	"KDSR"	"MONDO:0033014"	"erythrokeratodermia variabilis et progressiva 4"	"OMIM:617526"	"Erythrokeratodermia variabilis et progressiva 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4021"	"KDSR"	"OMIM:617526"	"erythrokeratodermia variabilis et progressiva 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 19:51:29"	""	""	"28575652, 28774589, 30467204, 31987885, 32972506, 34686882, 63361789, 63707612"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDSR0Erythrokeratode"	"2023-11-30"
"GENCC_000106-HGNC_30372-OMIM_615348-HP_0000007-GENCC_100002"	"HGNC:30372"	"KLHL40"	"MONDO:0014138"	"nemaline myopathy 8"	"OMIM:615348"	"Nemaline myopathy 8, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30372"	"KLHL40"	"OMIM:615348"	"nemaline myopathy 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-04 12:54:31"	""	""	"23746549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHL400NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_6572-OMIM_600512-HP_0000006-GENCC_100002"	"HGNC:6572"	"LGI1"	"MONDO:0700090"	"epilepsy, familial temporal lobe, 1"	"OMIM:600512"	"Epilepsy, familial temporal lobe, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6572"	"LGI1"	"OMIM:600512"	"autosomal dominant epilepsy with auditory features"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-27 09:53:15"	""	""	"15009222, 18711109, 24206907, 26046367"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LGI10ETL1"	"2023-11-30"
"GENCC_000106-HGNC_21253-OMIM_610265-HP_0000007-GENCC_100002"	"HGNC:21253"	"LHFPL5"	"MONDO:0012460"	"autosomal recessive nonsyndromic hearing loss 67"	"OMIM:610265"	"Deafness, autosomal recessive 67"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21253"	"LHFPL5"	"OMIM:610265"	"autosomal recessive nonsyndromic hearing loss 67"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"15905332, 16459341, 16752389, 21816241, 23967202, 251480, 251488, 26029705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LHFPL50Deafness"	"2023-11-30"
"GENCC_000106-HGNC_6631-OMIM_227300-HP_0000007-GENCC_100002"	"HGNC:6631"	"LMAN1"	"MONDO:0009206"	"factor V and factor VIII, combined deficiency of, type 1"	"OMIM:227300"	"Combined factor V and VIII deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6631"	"LMAN1"	"OMIM:227300"	"factor V and factor VIII, combined deficiency of, type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-06 12:42:49"	""	""	"10090935, 18391077"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMAN10Combined"	"2023-11-30"
"GENCC_000106-HGNC_6649-OMIM_616165-HP_0000007-GENCC_100002"	"HGNC:6649"	"LMOD3"	"MONDO:0014513"	"nemaline myopathy 10"	"OMIM:616165"	"Nemaline myopathy 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6649"	"LMOD3"	"OMIM:616165"	"nemaline myopathy 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-17 22:02:11"	""	""	"25250574"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMOD30NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_6664-OMIM_617168-HP_0000006-GENCC_100002"	"HGNC:6664"	"LOX"	"MONDO:0014950"	"aortic aneurysm, familial thoracic 10"	"OMIM:617168"	"Aortic aneurysm, familial thoracic 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6664"	"LOX"	"OMIM:617168"	"aortic aneurysm, familial thoracic 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:16"	""	""	"12417550, 26838787, 27432961, 31211624"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LOX0LOXrel"	"2023-11-30"
"GENCC_000106-HGNC_15714-OMIM_220111-HP_0000007-GENCC_100002"	"HGNC:15714"	"LRPPRC"	"MONDO:0009069"	"congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"	"OMIM:220111"	"Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15714"	"LRPPRC"	"OMIM:220111"	"congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-07 14:16:50"	""	""	"21266382, 26425749, 26510951"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRPPRC0Leigh"	"2023-11-30"
"GENCC_000106-HGNC_25033-OMIM_611451-HP_0000007-GENCC_100002"	"HGNC:25033"	"LRTOMT"	"MONDO:0012670"	"autosomal recessive nonsyndromic hearing loss 63"	"OMIM:611451"	"Deafness, autosomal recessive 63"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25033"	"LRTOMT"	"OMIM:611451"	"autosomal recessive nonsyndromic hearing loss 63"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 07:04:58"	""	""	"152512, 17211611, 18953341, 21117948, 22903915, 23053991, 24926664, 25788562, 28726809"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRTOMT0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_1968-OMIM_214500-HP_0000007-GENCC_100002"	"HGNC:1968"	"LYST"	"MONDO:0008963"	"Chediak-Higashi syndrome"	"OMIM:214500"	"Chediak-Higashi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1968"	"LYST"	"OMIM:214500"	"Chediak-Higashi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-10 22:12:51"	""	""	"11857544, 15896657, 17554367, 24521565, 9215679"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LYST0Chediak"	"2023-11-30"
"GENCC_000106-HGNC_6833-OMIM_300615-HP_0001417-GENCC_100002"	"HGNC:6833"	"MAOA"	"MONDO:0010379"	"Brunner syndrome"	"OMIM:300615"	"Brunner syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:6833"	"MAOA"	"OMIM:300615"	"Brunner syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-23 08:36:20"	""	""	"15272015, 22850464, 25807999, 25969726, 8211186"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAOA0Brunner"	"2023-11-30"
"GENCC_000106-HGNC_26401-OMIM_610153-HP_0000007-GENCC_100002"	"HGNC:26401"	"MARVELD2"	"MONDO:0012420"	"autosomal recessive nonsyndromic hearing loss 49"	"OMIM:610153"	"Deafness, autosomal recessive 49"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26401"	"MARVELD2"	"OMIM:610153"	"autosomal recessive nonsyndromic hearing loss 49"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"15538632, 17186462, 18084694, 251286, 251408, 282516"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MARVELD20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_6936-OMIM_210200-HP_0000007-GENCC_100002"	"HGNC:6936"	"MCCC1"	"MONDO:0008861"	"3-methylcrotonyl-CoA carboxylase 1 deficiency"	"OMIM:210200"	"3-Methylcrotonyl-CoA carboxylase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6936"	"MCCC1"	"OMIM:210200"	"3-methylcrotonyl-CoA carboxylase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"11181649, 15359379, 210200, 22642865"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCCC103MCCD"	"2023-11-30"
"GENCC_000106-HGNC_6937-OMIM_210210-HP_0000007-GENCC_100002"	"HGNC:6937"	"MCCC2"	"MONDO:0008862"	"3-methylcrotonyl-CoA carboxylase 2 deficiency"	"OMIM:210210"	"3-Methylcrotonyl-CoA carboxylase 2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6937"	"MCCC2"	"OMIM:210210"	"3-methylcrotonyl-CoA carboxylase 2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:49"	""	""	"11181649, 210210, 22642865"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCCC203MCCD"	"2023-11-30"
"GENCC_000106-HGNC_16732-OMIM_251120-HP_0000007-GENCC_100002"	"HGNC:16732"	"MCEE"	"MONDO:0009615"	"methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"	"OMIM:251120"	"Methylmalonyl-CoA epimerase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16732"	"MCEE"	"OMIM:251120"	"methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"1667227, 16697227, 16752391, 17823972, 178823972, 27699154, 29104221, 30682498"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCEE0MMCoA"	"2023-11-30"
"GENCC_000106-HGNC_29634-OMIM_614399-HP_0000007-GENCC_100002"	"HGNC:29634"	"MEGF10"	"MONDO:0013731"	"MEGF10-related myopathy"	"OMIM:614399"	"Congenital myopathy 10A, severe variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29634"	"MEGF10"	"OMIM:614399"	"MEGF10-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-17 19:25:05"	""	""	"22101682, 22371254, 23453856, 23954233, 26802438, 29128256"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MEGF100Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_7010-OMIM_131100-HP_0000006-GENCC_100002"	"HGNC:7010"	"MEN1"	"MONDO:0007540"	"multiple endocrine neoplasia type 1"	"OMIM:131100"	"Multiple endocrine neoplasia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7010"	"MEN1"	"OMIM:131100"	"multiple endocrine neoplasia type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 21:19:39"	""	""	"11158604, 11739416, 12016472, 12112656, 12417605, 12445671, 1352309, 15333582, 17853334, 17879353, 20301710, 22723327, 23648481, 23652667, 25043548, 27246634, 27572829, 2894610, 30608029, 32130200, 32780883, 35446370, 8977082, 9683585, 9709921"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MEN10MEN1"	"2023-11-30"
"GENCC_000106-HGNC_7095-OMIM_300000-HP_0001417-GENCC_100002"	"HGNC:7095"	"MID1"	"MONDO:0010222"	"X-linked Opitz G/BBB syndrome"	"OMIM:300000"	"Opitz GBBB syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7095"	"MID1"	"OMIM:300000"	"X-linked Opitz G/BBB syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-31 16:27:47"	""	""	"11030761, 15121778, 15558842, 17221865, 21326312"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MID10OpitzGBBB"	"2023-11-30"
"GENCC_000106-HGNC_7150-OMIM_248360-HP_0000007-GENCC_100002"	"HGNC:7150"	"MLYCD"	"MONDO:0009556"	"malonic aciduria"	"OMIM:248360"	"Malonyl-CoA decarboxylase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7150"	"MLYCD"	"OMIM:248360"	"malonic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"12955715, 17186413, 23791943, 26858006"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MLYCD0MYLCDDef02"	"2023-11-30"
"GENCC_000106-HGNC_24525-OMIM_277400-HP_0000007-GENCC_100002"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"OMIM:277400"	"Methylmalonic aciduria and homocystinuria, cblC type, digenic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24525"	"MMACHC"	"OMIM:277400"	"methylmalonic aciduria and homocystinuria type cblC"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-18 21:08:16"	""	""	"16311595, 277400"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMACHC0MAH"	"2023-11-30"
"GENCC_000106-HGNC_7448-OMIM_310400-HP_0001417-GENCC_100002"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked myotubular myopathy"	"OMIM:310400"	"Myopathy, centronuclear, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7448"	"MTM1"	"OMIM:310400"	"X-linked centronuclear myopathy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 22:14:22"	""	""	"10063835, 10790201, 12707446, 22968136, 9305655"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTM10CNM02"	"2023-11-30"
"GENCC_000106-HGNC_7450-OMIM_601382-HP_0000007-GENCC_100002"	"HGNC:7450"	"MTMR2"	"MONDO:0011066"	"Charcot-Marie-Tooth disease type 4B1"	"OMIM:601382"	"Charcot-Marie-Tooth disease, type 4B1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7450"	"MTMR2"	"OMIM:601382"	"Charcot-Marie-Tooth disease type 4B1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-19 09:20:40"	""	""	"10802647, 16249189, 22028665, 8817345"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTMR20CMT"	"2023-11-30"
"GENCC_000106-HGNC_7594-OMIM_600316-HP_0000007-GENCC_100002"	"HGNC:7594"	"MYO15A"	"MONDO:0010860"	"autosomal recessive nonsyndromic hearing loss 3"	"OMIM:600316"	"Deafness, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7594"	"MYO15A"	"OMIM:600316"	"autosomal recessive nonsyndromic hearing loss 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-22 22:07:58"	""	""	"10552926, 10915760, 11735029, 17546645, 17851452, 20642360, 26226137, 9603736"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO15A0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_17996-OMIM_237310-HP_0000007-GENCC_100002"	"HGNC:17996"	"NAGS"	"MONDO:0009377"	"hyperammonemia due to N-acetylglutamate synthase deficiency"	"OMIM:237310"	"N-acetylglutamate synthase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17996"	"NAGS"	"OMIM:237310"	"hyperammonemia due to N-acetylglutamate synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"12594532, 15164414, 15714518, 17421020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAGS0NAcetylSynthDef"	"2023-11-30"
"GENCC_000106-HGNC_7773-OMIM_101000-HP_0000006-GENCC_100002"	"HGNC:7773"	"NF2"	"MONDO:0007039"	"NF2-related schwannomatosis"	"OMIM:101000"	"Schwannomatosis, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7773"	"NF2"	"OMIM:101000"	"neurofibromatosis type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-28 16:25:03"	""	""	"16983642, 20301380, 23931824, 31161239, 33336705, 9643284"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NF20NF2"	"2023-11-30"
"GENCC_000106-HGNC_17646-OMIM_615273-HP_0000007-GENCC_100002"	"HGNC:17646"	"NGLY1"	"MONDO:0800044"	"congenital disorder of deglycosylation 1"	"OMIM:615273"	"Congenital disorder of deglycosylation 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17646"	"NGLY1"	"OMIM:615273"	"NGLY1-deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:12:01"	""	""	"22581936, 24651605, 25900930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NGLY10NGLY1CDG"	"2023-11-30"
"GENCC_000106-HGNC_28862-OMIM_122470-HP_0000006-GENCC_100002"	"HGNC:28862"	"NIPBL"	"MONDO:0007387"	"Cornelia de Lange syndrome 1"	"OMIM:122470"	"Cornelia de Lange syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28862"	"NIPBL"	"OMIM:122470"	"Cornelia de Lange syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-27 09:51:11"	""	""	"15318302, 19763162, 23505322, 24038889, 29995837, 9279756"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NIPBL0CdLS"	"2023-11-30"
"GENCC_000106-HGNC_7989-OMIM_613224-HP_0000006-GENCC_100002"	"HGNC:7989"	"NRAS"	"MONDO:0013186"	"Noonan syndrome 6"	"OMIM:613224"	"Noonan syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7989"	"NRAS"	"OMIM:613224"	"Noonan syndrome 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-06 15:48:41"	""	""	"19966803"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRAS0Noonan"	"2023-11-30"
"GENCC_000106-HGNC_14234-OMIM_117550-HP_0000006-GENCC_100002"	"HGNC:14234"	"NSD1"	"MONDO:0007299"	"Sotos syndrome 1"	"OMIM:117550"	"Sotos syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14234"	"NSD1"	"OMIM:117550"	"Sotos syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 20:40:26"	""	""	"12464997, 14571271, 15942875, 16247291, 162472941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSD10Sotos"	"2023-11-30"
"GENCC_000106-HGNC_8108-OMIM_309000-HP_0001417-GENCC_100002"	"HGNC:8108"	"OCRL"	"MONDO:0010645"	"oculocerebrorenal syndrome"	"OMIM:309000"	"Lowe syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8108"	"OCRL"	"OMIM:309000"	"oculocerebrorenal syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 23:28:23"	""	""	"21031565, 22381590, 9048911"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OCRL0Lowe"	"2023-11-30"
"GENCC_000106-HGNC_16378-OMIM_607039-HP_0000007-GENCC_100002"	"HGNC:16378"	"OTOA"	"MONDO:0011762"	"autosomal recessive nonsyndromic hearing loss 22"	"OMIM:607039"	"Deafness, autosomal recessive 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16378"	"OTOA"	"OMIM:607039"	"autosomal recessive nonsyndromic hearing loss 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 19:40:37"	""	""	"11972037, 16460646, 19888295, 23129639, 25062256, 26029705, 26226137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTOA0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_8516-OMIM_614945-HP_0000007-GENCC_100002"	"HGNC:8516"	"OTOG"	"MONDO:0013985"	"autosomal recessive nonsyndromic hearing loss 18B"	"OMIM:614945"	"Deafness, autosomal recessive 18B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8516"	"OTOG"	"OMIM:614945"	"autosomal recessive nonsyndromic hearing loss 18B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-17 13:24:24"	""	""	"150192, 180004, 2312258, 23122587, 24378291, 34118384"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTOG0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_26901-OMIM_614944-HP_0000007-GENCC_100002"	"HGNC:26901"	"OTOGL"	"MONDO:0013984"	"autosomal recessive nonsyndromic hearing loss 84B"	"OMIM:614944"	"Deafness, autosomal recessive 84B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26901"	"OTOGL"	"OMIM:614944"	"autosomal recessive nonsyndromic hearing loss 84B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 10:03:38"	""	""	"141578, 171932, 23122586, 234034, 23850727, 25719458, 264364, 26969326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTOGL0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_30032-OMIM_615009-HP_0000006-GENCC_100002"	"HGNC:30032"	"PACS1"	"MONDO:0014006"	"Schuurs-Hoeijmakers syndrome"	"OMIM:615009"	"Schuurs-Hoeijmakers syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30032"	"PACS1"	"OMIM:615009"	"Schuurs-Hoeijmakers syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-08 21:46:06"	""	""	"23159249, 26842493, 28975623, 34068396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PACS10SchHoeSyn"	"2023-11-30"
"GENCC_000106-HGNC_8582-OMIM_261600-HP_0000007-GENCC_100002"	"HGNC:8582"	"PAH"	"MONDO:0009861"	"phenylketonuria"	"OMIM:261600"	"Phenylketonuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8582"	"PAH"	"OMIM:261600"	"phenylketonuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-24 09:22:03"	""	""	"1301187, 9119379, 9634518"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAH0Hyperphe"	"2023-11-30"
"GENCC_000106-HGNC_8653-OMIM_606054-HP_0000007-GENCC_100002"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"propionic acidemia"	"OMIM:606054"	"Propionicacidemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8653"	"PCCA"	"OMIM:606054"	"propionic acidemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 20:39:18"	""	""	"15464417"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCCA0PropionicAcidem02"	"2023-11-30"
"GENCC_000106-HGNC_8853-OMIM_614920-HP_0000007-GENCC_100002"	"HGNC:8853"	"PEX11B"	"MONDO:0013967"	"peroxisome biogenesis disorder 14B"	"OMIM:614920"	"Peroxisome biogenesis disorder 14B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8853"	"PEX11B"	"OMIM:614920"	"peroxisome biogenesis disorder 14B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"22581968, 26233629, 26287655, 28129423"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX11B0PeroxBiogen"	"2023-11-30"
"GENCC_000106-HGNC_8856-OMIM_614887-HP_0000007-GENCC_100002"	"HGNC:8856"	"PEX14"	"MONDO:0013952"	"peroxisome biogenesis disorder 13A (Zellweger)"	"OMIM:614887"	"Peroxisome biogenesis disorder 13A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8856"	"PEX14"	"OMIM:614887"	"peroxisome biogenesis disorder 13A (Zellweger)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"15146459, 18285423, 20301621, 21031596, 26627464"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX140PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_9713-OMIM_614886-HP_0000007-GENCC_100002"	"HGNC:9713"	"PEX19"	"MONDO:0013951"	"peroxisome biogenesis disorder 12A (Zellweger)"	"OMIM:614886"	"Peroxisome biogenesis disorder 12A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9713"	"PEX19"	"OMIM:614886"	"peroxisome biogenesis disorder 12A (Zellweger)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-30 07:37:16"	""	""	"10051604, 20301621, 20683989, 21031596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX190PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_20672-OMIM_300263-HP_0001417-GENCC_100002"	"HGNC:20672"	"PHF8"	"MONDO:0010286"	"syndromic X-linked intellectual disability Siderius type"	"OMIM:300263"	"Intellectual developmental disorder, X-linked syndromic, Siderius type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:20672"	"PHF8"	"OMIM:300263"	"syndromic X-linked intellectual disability Siderius type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-31 08:26:43"	""	""	"16199551, 17594395, 17661819, 19843542, 27959697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHF80MentalRe030"	"2023-11-30"
"GENCC_000106-HGNC_9008-OMIM_173900-HP_0000006-GENCC_100002"	"HGNC:9008"	"PKD1"	"MONDO:0008263"	"polycystic kidney disease 1"	"OMIM:173900"	"Polycystic kidney disease 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9008"	"PKD1"	"OMIM:173900"	"polycystic kidney disease 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 13:53:47"	""	""	"17582161, 20177400, 20301424, 22508176, 26632257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKD10ADPKD"	"2023-11-30"
"GENCC_000106-HGNC_9009-OMIM_613095-HP_0000006-GENCC_100002"	"HGNC:9009"	"PKD2"	"MONDO:0013131"	"polycystic kidney disease 2"	"OMIM:613095"	"Polycystic kidney disease 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9009"	"PKD2"	"OMIM:613095"	"polycystic kidney disease 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-13 20:39:04"	""	""	"10615132, 11438989, 17582161, 19165178, 22863349, 9326937"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKD20ADPKD"	"2023-11-30"
"GENCC_000106-HGNC_15917-OMIM_613722-HP_0000007-GENCC_100002"	"HGNC:15917"	"PLCB1"	"MONDO:0013389"	"developmental and epileptic encephalopathy, 12"	"OMIM:613722"	"Developmental and epileptic encephalopathy 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15917"	"PLCB1"	"OMIM:613722"	"developmental and epileptic encephalopathy, 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-03 13:05:55"	""	""	"20833646, 22690784, 24684524"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCB10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_9086-OMIM_312080-HP_0001417-GENCC_100002"	"HGNC:9086"	"PLP1"	"MONDO:0010714"	"Pelizeaus-Merzbacher spectrum disorder"	"OMIM:312080"	"Pelizaeus-Merzbacher disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9086"	"PLP1"	"OMIM:312080"	"Pelizaeus-Merzbacher disease"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-08 10:35:39"	""	""	"18470932, 23344956"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLP10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_9154-OMIM_613402-HP_0000007-GENCC_100002"	"HGNC:9154"	"PNKP"	"MONDO:0013254"	"microcephaly, seizures, and developmental delay"	"OMIM:613402"	"Microcephaly, seizures, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9154"	"PNKP"	"OMIM:613402"	"microcephaly, seizures, and developmental delay"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-03 13:01:40"	""	""	"20118933, 23224214, 25728773, 29498415, 30039206, 31436889"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNKP0PNKPrelated"	"2023-11-30"
"GENCC_000106-HGNC_18801-OMIM_616364-HP_0000006-GENCC_100002"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"OMIM:616364"	"White-Sutton syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18801"	"POGZ"	"OMIM:616364"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-04 01:20:52"	""	""	"26739615, 26942287"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POGZ0POGZrel"	"2023-11-30"
"GENCC_000106-HGNC_9181-OMIM_278750-HP_0000007-GENCC_100002"	"HGNC:9181"	"POLH"	"MONDO:0010214"	"xeroderma pigmentosum variant type"	"OMIM:278750"	"Xeroderma pigmentosum, variant type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9181"	"POLH"	"OMIM:278750"	"xeroderma pigmentosum variant type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 09:21:54"	""	""	"11773631, 24130121, 25256075"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLH0XP"	"2023-11-30"
"GENCC_000106-HGNC_17652-OMIM_305600-HP_0001417-GENCC_100002"	"HGNC:17652"	"PORCN"	"MONDO:0010592"	"focal dermal hypoplasia"	"OMIM:305600"	"Focal dermal hypoplasia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:17652"	"PORCN"	"OMIM:305600"	"focal dermal hypoplasia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 20:03:39"	""	""	"17546030, 17546031, 18325042, 19309688, 19863546, 21768372"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PORCN0FocalDermal"	"2023-11-30"
"GENCC_000106-HGNC_9217-OMIM_304400-HP_0001417-GENCC_100002"	"HGNC:9217"	"POU3F4"	"MONDO:0010576"	"X-linked mixed hearing loss with perilymphatic gusher"	"OMIM:304400"	"Deafness, X-linked 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9217"	"POU3F4"	"OMIM:304400"	"X-linked mixed hearing loss with perilymphatic gusher"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 14:07:42"	""	""	"10464101, 10868234, 16365218, 19671658, 21633365, 23076972, 23400403, 23606368, 25928534, 27941975, 7581392, 7839145"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POU3F40Deafness"	"2023-11-30"
"GENCC_000106-HGNC_9220-OMIM_602459-HP_0000006-GENCC_100002"	"HGNC:9220"	"POU4F3"	"MONDO:0011226"	"autosomal dominant nonsyndromic hearing loss 15"	"OMIM:602459"	"Deafness, autosomal dominant 15/52"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9220"	"POU4F3"	"OMIM:602459"	"autosomal dominant nonsyndromic hearing loss 15"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-20 18:57:30"	""	""	"14585957, 18228599, 20434433, 23767834, 23967202, 24260153, 24556497, 25388789, 27999687, 8637595, 9256502, 9506947"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POU4F30Deafness"	"2023-11-30"
"GENCC_000106-HGNC_9282-OMIM_617506-HP_0000006-GENCC_100002"	"HGNC:9282"	"PPP1CB"	"MONDO:0054588"	"Noonan syndrome-like disorder with loose anagen hair 2"	"OMIM:617506"	"Noonan syndrome-like disorder with loose anagen hair 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9282"	"PPP1CB"	"OMIM:617506"	"Noonan syndrome-like disorder with loose anagen hair 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:33"	""	""	"25356899, 27264673, 27681385, 27868344, 28211982"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP1CB0Noonan"	"2023-11-30"
"GENCC_000106-HGNC_9330-OMIM_309500-HP_0001417-GENCC_100002"	"HGNC:9330"	"PQBP1"	"MONDO:0010653"	"Renpenning syndrome"	"OMIM:309500"	"Renpenning syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9330"	"PQBP1"	"OMIM:309500"	"Renpenning syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 21:56:47"	""	""	"14634649, 15782410, 16740914, 17033686, 19661183, 19847789, 20950397, 21315190"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PQBP10Renpenning"	"2023-11-30"
"GENCC_000106-HGNC_9411-OMIM_174050-HP_0000006-GENCC_100002"	"HGNC:9411"	"PRKCSH"	"MONDO:0008265"	"polycystic liver disease 1"	"OMIM:174050"	"Polycystic liver disease 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9411"	"PRKCSH"	"OMIM:174050"	"polycystic liver disease 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:37:59"	""	""	"12500201, 12529853, 12577059, 20095989"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKCSH0Polycyst"	"2023-11-30"
"GENCC_000106-HGNC_9414-OMIM_615436-HP_0000006-GENCC_100002"	"HGNC:9414"	"PRKG1"	"MONDO:0014187"	"aortic aneurysm, familial thoracic 8"	"OMIM:615436"	"Aortic aneurysm, familial thoracic 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9414"	"PRKG1"	"OMIM:615436"	"aortic aneurysm, familial thoracic 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:23"	""	""	"21910461, 23910461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKG10TAAD"	"2023-11-30"
"GENCC_000106-HGNC_9475-OMIM_167800-HP_0000006-GENCC_100002"	"HGNC:9475"	"PRSS1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9475"	"PRSS1"	"OMIM:167800"	"hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 22:09:20"	""	""	"12120221, 18755888, 190101, 19453252, 21844754"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRSS10Pancreatitis"	"2023-11-30"
"GENCC_000106-HGNC_9588-OMIM_158350-HP_0000006-GENCC_100002"	"HGNC:9588"	"PTEN"	"MONDO:0008021"	"Cowden syndrome 1"	"OMIM:158350"	"Lhermitte-Duclos disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9588"	"PTEN"	"OMIM:158350"	"Cowden syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 19:18:25"	""	""	"10400993, 10910075, 11755638, 12928488, 12938083, 15254063, 15589575, 17392703, 17768394, 18972196, 19847259, 20565722, 21194675, 21303970, 21430697, 21659347, 22252256, 23335809, 23934601, 24136893, 26678657, 26798346, 27890237, 28526761, 30287823, 31216739, 32923874, 8673088, 9345101, 9467011"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTEN0PHTS"	"2023-11-30"
"GENCC_000106-HGNC_9689-OMIM_261640-HP_0000007-GENCC_100002"	"HGNC:9689"	"PTS"	"MONDO:0009863"	"BH4-deficient hyperphenylalaninemia A"	"OMIM:261640"	"Hyperphenylalaninemia, BH4-deficient, A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9689"	"PTS"	"OMIM:261640"	"BH4-deficient hyperphenylalaninemia A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:49"	""	""	"16917893, 261640, 3297709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTS0BiopDefHyperphe"	"2023-11-30"
"GENCC_000106-HGNC_9721-OMIM_612940-HP_0000007-GENCC_100002"	"HGNC:9721"	"PYCR1"	"MONDO:0013051"	"autosomal recessive cutis laxa type 2B"	"OMIM:612940"	"Cutis laxa, autosomal recessive, type IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9721"	"PYCR1"	"OMIM:612940"	"autosomal recessive cutis laxa type 2B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"19648921, 23531708"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PYCR10CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_26162-OMIM_617258-HP_0000007-GENCC_100002"	"HGNC:26162"	"PYROXD1"	"MONDO:0014993"	"myofibrillar myopathy 8"	"OMIM:617258"	"Myopathy, myofibrillar, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26162"	"PYROXD1"	"OMIM:617258"	"myofibrillar myopathy 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-17 22:04:57"	""	""	"27745833, 30515627"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PYROXD10MFM"	"2023-11-30"
"GENCC_000106-HGNC_9752-OMIM_261630-HP_0000007-GENCC_100002"	"HGNC:9752"	"QDPR"	"MONDO:0009862"	"dihydropteridine reductase deficiency"	"OMIM:261630"	"Hyperphenylalaninemia, BH4-deficient, C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9752"	"QDPR"	"OMIM:261630"	"dihydropteridine reductase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:50"	""	""	"11153907, 261630, 7627180"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"QDPR0BiopDefHyperphe"	"2023-11-30"
"GENCC_000106-HGNC_16499-OMIM_311510-HP_0001417-GENCC_100002"	"HGNC:16499"	"RAB39B"	"MONDO:0010709"	"early-onset parkinsonism-intellectual disability syndrome"	"OMIM:311510"	"Waisman syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:16499"	"RAB39B"	"OMIM:311510"	"early-onset parkinsonism-intellectual disability syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 20:08:09"	""	""	"20159109, 25434005, 25744623, 26399558, 27066548"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB39B0Waisman"	"2023-11-30"
"GENCC_000106-HGNC_9823-OMIM_614291-HP_0000006-GENCC_100002"	"HGNC:9823"	"RAD51D"	"MONDO:0013669"	"breast-ovarian cancer, familial, susceptibility to, 4"	"OMIM:614291"	"{Breast-ovarian cancer, familial, susceptibility to, 4}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9823"	"RAD51D"	"OMIM:614291"	"breast-ovarian cancer, familial, susceptibility to, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-30 16:57:26"	""	""	"21822267, 22415235, 22652533, 22986143, 23372765, 24130102, 25445424, 25452441, 26261251, 26718727, 26720728, 27296296, 27433846, 28008555, 28135145, 28418444, 28649662, 28724667, 28888541, 29338689, 29522266, 29988077, 30099541, 30128536, 30733081, 30949688, 32064047, 32091585, 32107557, 32295079, 32359370"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAD51D0RAD51DrelCanc"	"2023-11-30"
"GENCC_000106-HGNC_9879-OMIM_615888-HP_0000007-GENCC_100002"	"HGNC:9879"	"RASGRP2"	"MONDO:0014386"	"platelet-type bleeding disorder 18"	"OMIM:615888"	"?Bleeding disorder, platelet-type, 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9879"	"RASGRP2"	"OMIM:615888"	"platelet-type bleeding disorder 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:52:06"	""	""	"15334074, 21652673, 21815871, 24958846, 27235135, 27663674, 28637664"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RASGRP20Thrombocytopen"	"2023-11-30"
"GENCC_000106-HGNC_9884-OMIM_180200-HP_0000006-GENCC_100002"	"HGNC:9884"	"RB1"	"MONDO:0018160"	"hereditary retinoblastoma"	"OMIM:180200"	"Retinoblastoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9884"	"RB1"	"OMIM:180200"	"retinoblastoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-19 17:56:58"	""	""	"14996857, 17096365, 18509746, 20301625, 21538077, 21615945, 22205104, 22355046, 32422154, 8651278, 9333268, 9497263"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RB10Rb"	"2023-11-30"
"GENCC_000106-HGNC_9905-OMIM_274000-HP_0000007-GENCC_100002"	"HGNC:9905"	"RBM8A"	"MONDO:0010121"	"thrombocytopenia-absent radius syndrome"	"OMIM:274000"	"Thrombocytopenia-absent radius syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9905"	"RBM8A"	"OMIM:274000"	"thrombocytopenia-absent radius syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-27 09:55:25"	""	""	"17236129, 22366785"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBM8A0TAR"	"2023-11-30"
"GENCC_000106-HGNC_9944-OMIM_611022-HP_0000007-GENCC_100002"	"HGNC:9944"	"RDX"	"MONDO:0012602"	"autosomal recessive nonsyndromic hearing loss 24"	"OMIM:611022"	"Deafness, autosomal recessive 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9944"	"RDX"	"OMIM:611022"	"autosomal recessive nonsyndromic hearing loss 24"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-09 14:10:23"	""	""	"12068294, 15314067, 17226784, 19215054, 251362, 26226137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RDX0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_9949-OMIM_268400-HP_0000007-GENCC_100002"	"HGNC:9949"	"RECQL4"	"MONDO:0016369"	"Rothmund-Thomson syndrome type 2"	"OMIM:268400"	"Rothmund-Thomson syndrome, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9949"	"RECQL4"	"OMIM:268400"	"Rothmund-Thomson syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-23 15:25:43"	""	""	"104602, 12734318, 12952869, 28825054, 29659569, 30947698, 30995915"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RECQL40BGS0RTS0RAPADIL"	"2023-11-30"
"GENCC_000106-HGNC_10023-OMIM_615355-HP_0000006-GENCC_100002"	"HGNC:10023"	"RIT1"	"MONDO:0014143"	"Noonan syndrome 8"	"OMIM:615355"	"Noonan syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10023"	"RIT1"	"OMIM:615355"	"Noonan syndrome 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 20:22:36"	""	""	"23791108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RIT10Noonan"	"2023-11-30"
"GENCC_000106-HGNC_10383-OMIM_613308-HP_0000006-GENCC_100002"	"HGNC:10383"	"RPS10"	"MONDO:0013216"	"Diamond-Blackfan anemia 9"	"OMIM:613308"	"Diamond-Blackfan anemia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10383"	"RPS10"	"OMIM:613308"	"Diamond-Blackfan anemia 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:25"	""	""	"20116044, 23718193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS100DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10411-OMIM_610629-HP_0000006-GENCC_100002"	"HGNC:10411"	"RPS24"	"MONDO:0012529"	"Diamond-Blackfan anemia 3"	"OMIM:610629"	"Diamond-blackfan anemia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10411"	"RPS24"	"OMIM:610629"	"Diamond-Blackfan anemia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:25"	""	""	"17186470, 20960466"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS240DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10471-OMIM_601399-HP_0000006-GENCC_100002"	"HGNC:10471"	"RUNX1"	"MONDO:0100083"	"hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1"	"OMIM:601399"	"Platelet disorder, familial, with associated myeloid malignancy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10471"	"RUNX1"	"OMIM:601399"	"hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-05 16:20:05"	""	""	"18723428, 24100448"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RUNX10FPDAML"	"2023-11-30"
"GENCC_000106-HGNC_3169-OMIM_610419-HP_0000007-GENCC_100002"	"HGNC:3169"	"S1PR2"	"MONDO:0012485"	"autosomal recessive nonsyndromic hearing loss 68"	"OMIM:610419"	"Deafness, autosomal recessive 68"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3169"	"S1PR2"	"OMIM:610419"	"autosomal recessive nonsyndromic hearing loss 68"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"16945494, 17284444, 26805784, 29776397"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"S1PR20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_1665-OMIM_254900-HP_0000007-GENCC_100002"	"HGNC:1665"	"SCARB2"	"MONDO:0009699"	"action myoclonus-renal failure syndrome"	"OMIM:254900"	"Epilepsy, progressive myoclonic 4, with or without renal failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1665"	"SCARB2"	"OMIM:254900"	"action myoclonus-renal failure syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:23:23"	""	""	"18308289, 18424452, 19847901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCARB20EPM1"	"2023-11-30"
"GENCC_000106-HGNC_10805-OMIM_608099-HP_0000007-GENCC_100002"	"HGNC:10805"	"SGCA"	"MONDO:0011968"	"autosomal recessive limb-girdle muscular dystrophy type 2D"	"OMIM:608099"	"Muscular dystrophy, limb-girdle, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10805"	"SGCA"	"OMIM:608099"	"autosomal recessive limb-girdle muscular dystrophy type 2D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-26 08:55:20"	""	""	"9192266"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SGCA0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_10809-OMIM_253700-HP_0000007-GENCC_100002"	"HGNC:10809"	"SGCG"	"MONDO:0009677"	"autosomal recessive limb-girdle muscular dystrophy type 2C"	"OMIM:253700"	"Muscular dystrophy, limb-girdle, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10809"	"SGCG"	"OMIM:253700"	"autosomal recessive limb-girdle muscular dystrophy type 2C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 00:07:50"	""	""	"18285821, 9032047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SGCG0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_15454-OMIM_607721-HP_0000006-GENCC_100002"	"HGNC:15454"	"SHOC2"	"MONDO:0054637"	"Noonan syndrome-like disorder with loose anagen hair 1"	"OMIM:607721"	"Noonan syndrome-like with loose anagen hair 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15454"	"SHOC2"	"OMIM:607721"	"Noonan syndrome-like disorder with loose anagen hair 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 12:14:40"	""	""	"4441940"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHOC20Noonan"	"2023-11-30"
"GENCC_000106-HGNC_10896-OMIM_182212-HP_0000006-GENCC_100002"	"HGNC:10896"	"SKI"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10896"	"SKI"	"OMIM:182212"	"Shprintzen-Goldberg syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 22:52:45"	""	""	"23023332, 23103230"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SKI0ShprintzenGold"	"2023-11-30"
"GENCC_000106-HGNC_10923-OMIM_300523-HP_0001417-GENCC_100002"	"HGNC:10923"	"SLC16A2"	"MONDO:0010354"	"Allan-Herndon-Dudley syndrome"	"OMIM:300523"	"Allan-Herndon-Dudley syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10923"	"SLC16A2"	"OMIM:300523"	"Allan-Herndon-Dudley syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-13 08:39:44"	""	""	"1203732, 15889350, 18187543, 20083155, 25527620"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC16A20MCT8def"	"2023-11-30"
"GENCC_000106-HGNC_10969-OMIM_212140-HP_0000007-GENCC_100002"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"OMIM:212140"	"Carnitine deficiency, systemic primary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10969"	"SLC22A5"	"OMIM:212140"	"systemic primary carnitine deficiency disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-26 15:19:21"	""	""	"9916797"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC22A50PrimCarnatine"	"2023-11-30"
"GENCC_000106-HGNC_10985-OMIM_238970-HP_0000007-GENCC_100002"	"HGNC:10985"	"SLC25A15"	"MONDO:0009393"	"ornithine translocase deficiency"	"OMIM:238970"	"Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10985"	"SLC25A15"	"OMIM:238970"	"ornithine translocase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"11552031, 19242930, 238970"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A150HHH02"	"2023-11-30"
"GENCC_000106-HGNC_1421-OMIM_212138-HP_0000007-GENCC_100002"	"HGNC:1421"	"SLC25A20"	"MONDO:0008918"	"carnitine-acylcarnitine translocase deficiency"	"OMIM:212138"	"Carnitine-acylcarnitine translocase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1421"	"SLC25A20"	"OMIM:212138"	"carnitine-acylcarnitine translocase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 16:00:44"	""	""	"10384384, 11162577, 12801121, 15363639, 18307102, 212138, 25325845, 25614308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A200CACTdef02"	"2023-11-30"
"GENCC_000106-HGNC_30224-OMIM_614707-HP_0000007-GENCC_100002"	"HGNC:30224"	"SLC52A2"	"MONDO:0013867"	"Brown-Vialetto-van Laere syndrome 2"	"OMIM:614707"	"Brown-Vialetto-Van Laere syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30224"	"SLC52A2"	"OMIM:614707"	"brown-Vialetto-van Laere syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 09:30:47"	""	""	"22740598, 24253200, 24616084, 25133958"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC52A20BVVLS"	"2023-11-30"
"GENCC_000106-HGNC_27960-OMIM_234500-HP_0000007-GENCC_100002"	"HGNC:27960"	"SLC6A19"	"MONDO:0009324"	"Hartnup disease"	"OMIM:234500"	"Hartnup disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27960"	"SLC6A19"	"OMIM:234500"	"Hartnup disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"15286787, 15286788"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC6A190HartnupD"	"2023-11-30"
"GENCC_000106-HGNC_11055-OMIM_300352-HP_0001417-GENCC_100002"	"HGNC:11055"	"SLC6A8"	"MONDO:0010305"	"creatine transporter deficiency"	"OMIM:300352"	"Cerebral creatine deficiency syndrome 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11055"	"SLC6A8"	"OMIM:300352"	"creatine transporter deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 10:05:15"	""	""	"22281021"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC6A80CreatineTrans"	"2023-11-30"
"GENCC_000106-HGNC_11065-OMIM_222700-HP_0000007-GENCC_100002"	"HGNC:11065"	"SLC7A7"	"MONDO:0009109"	"lysinuric protein intolerance"	"OMIM:222700"	"Lysinuric protein intolerance"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11065"	"SLC7A7"	"OMIM:222700"	"lysinuric protein intolerance"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 09:28:36"	""	""	"10631139, 17764084"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC7A70LysinuricProt"	"2023-11-30"
"GENCC_000106-HGNC_23503-OMIM_221200-HP_0000007-GENCC_100002"	"HGNC:23503"	"SLITRK6"	"MONDO:0009082"	"high myopia-sensorineural deafness syndrome"	"OMIM:221200"	"Deafness and myopia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23503"	"SLITRK6"	"OMIM:221200"	"high myopia-sensorineural deafness syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"19936227, 21298075, 23543054, 247920, 248182"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLITRK60Deafness02"	"2023-11-30"
"GENCC_000106-HGNC_2468-OMIM_610759-HP_0000006-GENCC_100002"	"HGNC:2468"	"SMC3"	"MONDO:0012555"	"Cornelia de Lange syndrome 3"	"OMIM:610759"	"Cornelia de Lange syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2468"	"SMC3"	"OMIM:610759"	"Cornelia de Lange syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 13:34:01"	""	""	"17273969, 18996922, 25125236, 25574841, 25655089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMC30CdLS"	"2023-11-30"
"GENCC_000106-HGNC_11122-OMIM_300066-HP_0001417-GENCC_100002"	"HGNC:11122"	"SMPX"	"MONDO:0010238"	"hearing loss, X-linked 4"	"OMIM:300066"	"Deafness, X-linked 4"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11122"	"SMPX"	"OMIM:300066"	"hearing loss, X-linked 4"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:28"	""	""	"11381084, 21549336, 21549342, 22911656, 30174017, 304500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMPX0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11123-OMIM_309583-HP_0001417-GENCC_100002"	"HGNC:11123"	"SMS"	"MONDO:0010664"	"syndromic X-linked intellectual disability Snyder type"	"OMIM:309583"	"Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11123"	"SMS"	"OMIM:309583"	"syndromic X-linked intellectual disability Snyder type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 10:00:50"	""	""	"14508504, 18550699, 19206178, 21647366, 26761001, 30237987, 31580924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMS0XLID"	"2023-11-30"
"GENCC_000106-HGNC_11204-OMIM_114290-HP_0000006-GENCC_100002"	"HGNC:11204"	"SOX9"	"MONDO:0007251"	"campomelic dysplasia"	"OMIM:114290"	"Campomelic dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11204"	"SOX9"	"OMIM:114290"	"campomelic dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-06 07:28:50"	""	""	"11371614, 12161603, 17352389, 21373255, 24038782, 24704791, 25983619, 29542186, 31234679, 31389106, 36105084, 8894698, 9002675"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"campomelic"	"2023-11-30"
"GENCC_000106-HGNC_28423-OMIM_255995-HP_0000007-GENCC_100002"	"HGNC:28423"	"STAC3"	"MONDO:0009722"	"Bailey-Bloch congenital myopathy"	"OMIM:255995"	"Congenital myopathy 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28423"	"STAC3"	"OMIM:255995"	"Bailey-Bloch congenital myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 20:05:23"	""	""	"23736855, 28411587, 28777491, 30168660"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAC30CM"	"2023-11-30"
"GENCC_000106-HGNC_11389-OMIM_175200-HP_0000006-GENCC_100002"	"HGNC:11389"	"STK11"	"MONDO:0008280"	"Peutz-Jeghers syndrome"	"OMIM:175200"	"Peutz-Jeghers syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11389"	"STK11"	"OMIM:175200"	"Peutz-Jeghers syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-22 12:24:56"	""	""	"11113065, 11509733, 11956081, 12552571, 12865922, 15188174, 16287113, 18381428, 8988175, 9288765, 9288766, 9425897, 9428765, 9887330"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STK110PeutzJeghers"	"2023-11-30"
"GENCC_000106-HGNC_16035-OMIM_603720-HP_0000007-GENCC_100002"	"HGNC:16035"	"STRC"	"MONDO:0011364"	"autosomal recessive nonsyndromic hearing loss 16"	"OMIM:603720"	"Deafness, autosomal recessive 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16035"	"STRC"	"OMIM:603720"	"autosomal recessive nonsyndromic hearing loss 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 09:31:58"	""	""	"11687802, 18849963, 219520, 22147502, 250926, 25157971, 26011646, 26226137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STRC0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11460-OMIM_272300-HP_0000007-GENCC_100002"	"HGNC:11460"	"SUOX"	"MONDO:0010089"	"isolated sulfite oxidase deficiency"	"OMIM:272300"	"Sulfite oxidase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11460"	"SUOX"	"OMIM:272300"	"isolated sulfite oxidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-01 13:57:08"	""	""	"11825068, 12112661, 1212661, 12368985, 1.59164E+15, 15952210, 27289259, 9428520, 9600976"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUOX0SulfOxDef"	"2023-11-30"
"GENCC_000106-HGNC_11573-OMIM_276600-HP_0000007-GENCC_100002"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"tyrosinemia type II"	"OMIM:276600"	"Tyrosinemia, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11573"	"TAT"	"OMIM:276600"	"tyrosinemia type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:50"	""	""	"1357662, 16602095, 16917729, 9544843"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAT0Tyrosinemia"	"2023-11-30"
"GENCC_000106-HGNC_11631-OMIM_618430-HP_0000006-GENCC_100002"	"HGNC:11631"	"TCF20"	"MONDO:0032745"	"developmental delay with variable intellectual impairment and behavioral abnormalities"	"OMIM:618430"	"Developmental delay with variable intellectual impairment and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11631"	"TCF20"	"OMIM:618430"	"developmental delay with variable intellectual impairment and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-15 19:36:36"	""	""	"25228304, 27436265, 30739909, 30819258"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCF200ID"	"2023-11-30"
"GENCC_000106-HGNC_11634-OMIM_610954-HP_0000006-GENCC_100002"	"HGNC:11634"	"TCF4"	"MONDO:0012589"	"Pitt-Hopkins syndrome"	"OMIM:610954"	"Pitt-Hopkins syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11634"	"TCF4"	"OMIM:610954"	"Pitt-Hopkins syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 20:50:14"	""	""	"18728071, 22045651"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCF40PittHopkins"	"2023-11-30"
"GENCC_000106-HGNC_11654-OMIM_154500-HP_0000006-GENCC_100002"	"HGNC:11654"	"TCOF1"	"MONDO:0007944"	"Treacher Collins syndrome 1"	"OMIM:154500"	"Treacher Collins syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11654"	"TCOF1"	"OMIM:154500"	"Treacher Collins syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-19 07:02:03"	""	""	"22317976, 27481486, 8894686"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCOF10TreacherCollins"	"2023-11-30"
"GENCC_000106-HGNC_11782-OMIM_605407-HP_0000007-GENCC_100002"	"HGNC:11782"	"TH"	"MONDO:0011551"	"TH-deficient dopa-responsive dystonia"	"OMIM:605407"	"Segawa syndrome, recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11782"	"TH"	"OMIM:605407"	"TH-deficient dopa-responsive dystonia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 17:59:25"	""	""	"10407773, 11160968, 16376043, 20056467, 20430833, 20823027, 21465550, 22264700, 22815559, 24753243, 27934587, 7715703"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TH0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_30800-OMIM_600971-HP_0000007-GENCC_100002"	"HGNC:30800"	"TMIE"	"MONDO:0010965"	"autosomal recessive nonsyndromic hearing loss 6"	"OMIM:600971"	"Deafness, autosomal recessive 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30800"	"TMIE"	"OMIM:600971"	"autosomal recessive nonsyndromic hearing loss 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-13 12:51:39"	""	""	"12140191, 12145746, 16389551, 19438934, 249458, 26226137, 46750654"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMIE0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11877-OMIM_601072-HP_0000007-GENCC_100002"	"HGNC:11877"	"TMPRSS3"	"MONDO:0010987"	"autosomal recessive nonsyndromic hearing loss 8"	"OMIM:601072"	"Deafness, autosomal recessive 8/10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11877"	"TMPRSS3"	"OMIM:601072"	"autosomal recessive nonsyndromic hearing loss 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-25 12:27:33"	""	""	"11907649, 16021470, 19888295, 21454591, 21534946, 24853665, 26226137, 26969326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMPRSS30Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11998-OMIM_151623-HP_0000006-GENCC_100002"	"HGNC:11998"	"TP53"	"MONDO:0018875"	"Li-Fraumeni syndrome"	"OMIM:151623"	"Li-Fraumeni syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11998"	"TP53"	"OMIM:151623"	"Li-Fraumeni syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-10 16:14:15"	""	""	"10864200, 12826609, 1642235, 191170, 20522432, 21343334, 21941372, 22275381, 26086041, 27496084, 28135145, 28649662, 29146522, 29478780, 29522266, 30287823, 30730459, 31105275, 32998877, 3480372, 9006316, 9039259, 9242456, 9554443"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TP530LiFraumeni"	"2023-11-30"
"GENCC_000106-HGNC_2073-OMIM_204500-HP_0000007-GENCC_100002"	"HGNC:2073"	"TPP1"	"MONDO:0008769"	"neuronal ceroid lipofuscinosis 2"	"OMIM:204500"	"Ceroid lipofuscinosis, neuronal, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2073"	"TPP1"	"OMIM:204500"	"neuronal ceroid lipofuscinosis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-18 07:38:08"	""	""	"10330339, 21990111"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPP10CLN"	"2023-11-30"
"GENCC_000106-HGNC_26894-OMIM_613307-HP_0000007-GENCC_100002"	"HGNC:26894"	"TPRN"	"MONDO:0013215"	"autosomal recessive nonsyndromic hearing loss 79"	"OMIM:613307"	"Deafness, autosomal recessive 79"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26894"	"TPRN"	"OMIM:613307"	"autosomal recessive nonsyndromic hearing loss 79"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"20170898, 20170899, 23340767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPRN0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_17009-OMIM_609823-HP_0000007-GENCC_100002"	"HGNC:17009"	"TRIOBP"	"MONDO:0012355"	"autosomal recessive nonsyndromic hearing loss 28"	"OMIM:609823"	"Deafness, autosomal recessive 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17009"	"TRIOBP"	"OMIM:609823"	"autosomal recessive nonsyndromic hearing loss 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 13:56:03"	""	""	"16385457, 16385458, 20510926, 248078, 249572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIOBP0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_12362-OMIM_191100-HP_0000006-GENCC_100002"	"HGNC:12362"	"TSC1"	"MONDO:0008612"	"tuberous sclerosis 1"	"OMIM:191100"	"Tuberous sclerosis-1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12362"	"TSC1"	"OMIM:191100"	"tuberous sclerosis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 21:57:26"	""	""	"10227394, 15563017, 17003820, 17304050, 18798544, 18978035, 191100, 20522432, 22035404, 24832166, 27926368, 28887784, 29167182, 32655935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSC10TUBSCL"	"2023-11-30"
"GENCC_000106-HGNC_12363-OMIM_613254-HP_0000006-GENCC_100002"	"HGNC:12363"	"TSC2"	"MONDO:0013199"	"tuberous sclerosis 2"	"OMIM:613254"	"Tuberous sclerosis-2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12363"	"TSC2"	"OMIM:613254"	"tuberous sclerosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 07:41:47"	""	""	"10205261, 17003820, 17005952, 17304050, 18978035, 20833335, 22035404, 24832166, 27926368, 28887784, 29167182, 32655935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSC20TUBSCL"	"2023-11-30"
"GENCC_000106-HGNC_12405-OMIM_105210-HP_0000006-GENCC_100002"	"HGNC:12405"	"TTR"	"MONDO:0007100"	"familial amyloid neuropathy"	"OMIM:105210"	"Amyloidosis, hereditary, transthyretin-related"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12405"	"TTR"	"OMIM:105210"	"familial amyloid neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-12 15:32:16"	""	""	"15820680, 16009758, 17503405, 25044787"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTR0HeredAmyloidos"	"2023-11-30"
"GENCC_000106-HGNC_30242-OMIM_611093-HP_0000007-GENCC_100002"	"HGNC:30242"	"TUSC3"	"MONDO:0012615"	"intellectual disability, autosomal recessive 7"	"OMIM:611093"	"Intellectual developmental disorder, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30242"	"TUSC3"	"OMIM:611093"	"intellectual disability, autosomal recessive 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"18452889, 18455129, 21739581, 25044680, 25626710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUSC30ID"	"2023-11-30"
"GENCC_000106-HGNC_12472-OMIM_300860-HP_0001417-GENCC_100002"	"HGNC:12472"	"UBE2A"	"MONDO:0010461"	"syndromic X-linked intellectual disability Nascimento type"	"OMIM:300860"	"Intellectual developmental disorder, X-linked syndromic, Nascimento type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12472"	"UBE2A"	"OMIM:300860"	"syndromic X-linked intellectual disability Nascimento type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-25 13:50:25"	""	""	"16909393, 21108393, 23685073, 24053514, 25287747, 28152038, 32485717, 33673493, 35846913"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBE2A0MentalRe033"	"2023-11-30"
"GENCC_000106-HGNC_12496-OMIM_105830-HP_0000006-GENCC_100002"	"HGNC:12496"	"UBE3A"	"MONDO:0007113"	"Angelman syndrome"	"OMIM:105830"	"Angelman syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12496"	"UBE3A"	"OMIM:105830"	"Angelman syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:18:05"	""	""	"25212744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBE3A0Angelman"	"2023-11-30"
"GENCC_000106-HGNC_20347-OMIM_613404-HP_0000007-GENCC_100002"	"HGNC:20347"	"VIPAS39"	"MONDO:0013255"	"arthrogryposis, renal dysfunction, and cholestasis 2"	"OMIM:613404"	"Arthrogryposis, renal dysfunction, and cholestasis 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20347"	"VIPAS39"	"OMIM:613404"	"arthrogryposis, renal dysfunction, and cholestasis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 07:55:40"	""	""	"20190753, 22753090"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VIPAS390Arthrogr"	"2023-11-30"
"GENCC_000106-HGNC_2183-OMIM_216550-HP_0000007-GENCC_100002"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"OMIM:216550"	"Cohen syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2183"	"VPS13B"	"OMIM:216550"	"Cohen syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-23 22:34:48"	""	""	"12676892, 15141358, 16648375, 20461111, 21605373"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS13B0Cohen"	"2023-11-30"
"GENCC_000106-HGNC_12796-OMIM_194070-HP_0000006-GENCC_100002"	"HGNC:12796"	"WT1"	"MONDO:0008679"	"Wilms tumor 1"	"OMIM:194070"	"Wilms tumor, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12796"	"WT1"	"OMIM:194070"	"Wilms tumor 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 19:56:18"	""	""	"11237525, 15150775, 16987884, 21123950, 23554000, 23715653, 25818337, 2827098, 2848200, 7937920, 8266105, 8389468, 8395349, 8975729, 9781905"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WT10WT1related"	"2023-11-30"
"GENCC_000106-HGNC_12814-OMIM_278700-HP_0000007-GENCC_100002"	"HGNC:12814"	"XPA"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"OMIM:278700"	"Xeroderma pigmentosum, group A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12814"	"XPA"	"OMIM:278700"	"xeroderma pigmentosum group A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 13:58:55"	""	""	"27607234"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XPA0XP"	"2023-11-30"
"GENCC_000106-HGNC_12816-OMIM_278720-HP_0000007-GENCC_100002"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"OMIM:278720"	"Xeroderma pigmentosum, group C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12816"	"XPC"	"OMIM:278720"	"xeroderma pigmentosum group C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-17 10:57:19"	""	""	"20301571, 23173980, 25256075"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XPC0XP"	"2023-11-30"
"GENCC_000106-HGNC_24931-OMIM_314580-HP_0001417-GENCC_100002"	"HGNC:24931"	"ZC4H2"	"MONDO:0010758"	"Wieacker-Wolff syndrome"	"OMIM:314580"	"Wieacker-Wolff syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:24931"	"ZC4H2"	"OMIM:314580"	"Wieacker-Wolff syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-19 10:26:31"	""	""	"23623388, 26056227, 28345801, 29150902, 31206972, 31885220, 36140726, 36250278"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZC4H20Wieacker"	"2023-11-30"
"GENCC_000106-HGNC_18475-OMIM_300799-HP_0001417-GENCC_100002"	"HGNC:18475"	"ZDHHC9"	"MONDO:0010427"	"syndromic X-linked intellectual disability Raymond type"	"OMIM:300799"	"Intellectual developmental disorder, X-linked syndromic, Raymond type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:18475"	"ZDHHC9"	"OMIM:300799"	"syndromic X-linked intellectual disability Raymond type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-23 21:30:35"	""	""	"17436253, 24357419, 26350204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZDHHC90XLID"	"2023-11-30"
"GENCC_000106-HGNC_14881-OMIM_235730-HP_0000006-GENCC_100002"	"HGNC:14881"	"ZEB2"	"MONDO:0009341"	"Mowat-Wilson syndrome"	"OMIM:235730"	"Mowat-Wilson syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14881"	"ZEB2"	"OMIM:235730"	"Mowat-Wilson syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-31 20:11:46"	""	""	"16053902, 19215041, 24715670, 29300384"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZEB20MowatWilson"	"2023-11-30"
"GENCC_000106-HGNC_21684-OMIM_618619-HP_0000006-GENCC_100002"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"OMIM:618619"	"Weiss-Kruszka syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21684"	"ZNF462"	"OMIM:618619"	"weiss-kruszka syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 16:33:30"	""	""	"108464368, 108940763, 110362345, 110561397, 28513610"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF4620ZNF462rel"	"2023-11-30"
"GENCC_000101-HGNC_21022-OMIM_614096-HP_0000007-GENCC_100003"	"HGNC:21022"	"AARS2"	"MONDO:0013570"	"combined oxidative phosphorylation defect type 8"	"OMIM:614096"	"Combined oxidative phosphorylation deficiency 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21022"	"AARS2"	"OMIM:614096"	"Combined oxidative phosphorylation deficiency 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-02 13:29:10"	""	""	""	"PMID: 28106320"	"74727"	"2020-12-24"
"GENCC_000101-HGNC_21022-OMIM_615889-HP_0000007-GENCC_100003"	"HGNC:21022"	"AARS2"	"MONDO:0014387"	"leukoencephalopathy, progressive, with ovarian failure"	"OMIM:615889"	"Leukoencephalopathy, progressive, with ovarian failure"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21022"	"AARS2"	"OMIM:615889"	"Leukoencephalopathy, progressive, with ovarian failure"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-19 13:29:11"	""	""	""	"PMID: 28106320"	"74727"	"2020-12-24"
"GENCC_000101-HGNC_34-OMIM_248200-HP_0000007-GENCC_100001"	"HGNC:34"	"ABCA4"	"MONDO:0009549"	"severe early-childhood-onset retinal dystrophy"	"OMIM:248200"	"Stargardt disease 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:34"	"ABCA4"	"OMIM:248200"	"Stargardt disease 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-08 13:29:11"	""	""	""	"PMID: 28106320"	"60"	"2020-12-24"
"GENCC_000101-HGNC_34-OMIM_604116-HP_0000007-GENCC_100001"	"HGNC:34"	"ABCA4"	"MONDO:0011395"	"cone-rod dystrophy 3"	"OMIM:604116"	"Cone-rod dystrophy 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:34"	"ABCA4"	"OMIM:604116"	"Cone-rod dystrophy 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-08 13:29:12"	""	""	""	"PMID: 28106320"	"60"	"2020-12-24"
"GENCC_000101-HGNC_67-OMIM_616278-HP_0000007-GENCC_100004"	"HGNC:67"	"ABCD3"	"MONDO:0014564"	"congenital bile acid synthesis defect 5"	"OMIM:616278"	"?Bile acid synthesis defect, congenital, 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:67"	"ABCD3"	"OMIM:616278"	"Bile acid synthesis defect, congenital, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:29:12"	""	""	""	"PMID: 28106320"	"7567"	"2020-12-24"
"GENCC_000101-HGNC_120-OMIM_617308-HP_0000007-GENCC_100004"	"HGNC:120"	"ACOX2"	"MONDO:0015015"	"congenital bile acid synthesis defect 6"	"OMIM:617308"	"Bile acid synthesis defect, congenital, 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:120"	"ACOX2"	"OMIM:617308"	"Bile acid synthesis defect, congenital, 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-18 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17038"	"2025-01-17"
"GENCC_000101-HGNC_129-OMIM_161800-HP_0032113-GENCC_100001"	"HGNC:129"	"ACTA1"	"MONDO:0008070"	"congenital myopathy 2a, typical, autosomal dominant"	"OMIM:161800"	"Congenital myopathy 2A, typical, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:129"	"ACTA1"	"OMIM:161800"	"Nemaline myopathy 3, autosomal dominant or recessive"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-05 13:29:13"	""	""	""	"PMID: 28106320"	"75"	"2020-12-24"
"GENCC_000101-HGNC_164-OMIM_612158-HP_0000006-GENCC_100003"	"HGNC:164"	"ACTN2"	"MONDO:0012808"	"dilated cardiomyopathy 1AA"	"OMIM:612158"	"Cardiomyopathy, dilated, 1AA, with or without LVNC"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:164"	"ACTN2"	"OMIM:612158"	"Cardiomyopathy, dilated, 1AA, with or without LVNC"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-29 13:29:13"	""	""	""	"PMID: 28106320"	"55"	"2020-12-24"
"GENCC_000101-HGNC_164-OMIM_618654-HP_0000006-GENCC_100003"	"HGNC:164"	"ACTN2"	"MONDO:0032852"	"myopathy, congenital, with structured cores and z-line abnormalities"	"OMIM:618654"	"Congenital myopathy 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:164"	"ACTN2"	"OMIM:618654"	"Myopathy, congenital with structured cores and Z-line abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-11-04 13:29:14"	""	""	""	"PMID: 28106320"	"55"	"2020-12-24"
"GENCC_000101-HGNC_171-OMIM_135100-HP_0000006-GENCC_100003"	"HGNC:171"	"ACVR1"	"MONDO:0007606"	"fibrodysplasia ossificans progressiva"	"OMIM:135100"	"Fibrodysplasia ossificans progressiva"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:171"	"ACVR1"	"OMIM:135100"	"Fibrodysplasia ossificans progressiva"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:29:14"	""	""	""	"PMID: 28106320"	"32"	"2020-12-24"
"GENCC_000101-HGNC_174-OMIM_613751-HP_0000006-GENCC_100004"	"HGNC:174"	"ACVR2B"	"MONDO:0013403"	"heterotaxy, visceral, 4, autosomal"	"OMIM:613751"	"Heterotaxy, visceral, 4, autosomal"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:174"	"ACVR2B"	"OMIM:613751"	"Heterotaxy, visceral, 4, autosomal"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-13 13:29:14"	""	""	""	"PMID: 28106320"	"39"	"2020-12-24"
"GENCC_000101-HGNC_177-OMIM_609924-HP_0000007-GENCC_100002"	"HGNC:177"	"ACY1"	"MONDO:0012368"	"aminoacylase 1 deficiency"	"OMIM:609924"	"Aminoacylase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:177"	"ACY1"	"OMIM:609924"	"Aminoacylase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-23 13:29:14"	""	""	""	"PMID: 28106320"	"37"	"2020-12-24"
"GENCC_000101-HGNC_195-OMIM_614328-HP_0000007-GENCC_100003"	"HGNC:195"	"ADAM17"	"MONDO:0013693"	"inflammatory skin and bowel disease, neonatal, 1"	"OMIM:614328"	"?Inflammatory skin and bowel disease, neonatal, 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:195"	"ADAM17"	"OMIM:614328"	"Inflammatory skin and bowel disease, neonatal, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-17 13:29:15"	""	""	""	"PMID: 28106320"	"1515"	"2020-12-24"
"GENCC_000101-HGNC_219-OMIM_618154-HP_0000007-GENCC_100003"	"HGNC:219"	"ADAMTS3"	"MONDO:0032564"	"hennekam lymphangiectasia-lymphedema syndrome 3"	"OMIM:618154"	"Hennekam lymphangiectasia-lymphedema syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:219"	"ADAMTS3"	"OMIM:618154"	"Hennekam lymphangiectasia-lymphedema syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-18 13:29:15"	""	""	""	"PMID: 28106320"	"3725"	"2020-12-24"
"GENCC_000101-HGNC_19706-OMIM_225100-HP_0000007-GENCC_100002"	"HGNC:19706"	"ADAMTSL4"	"MONDO:0009152"	"ectopia lentis 2, isolated, autosomal recessive"	"OMIM:225100"	"Ectopia lentis, isolated, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19706"	"ADAMTSL4"	"OMIM:225100"	"Ectopia lentis, isolated, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:29:16"	""	""	""	"PMID: 28106320"	"70724"	"2020-12-24"
"GENCC_000101-HGNC_225-OMIM_615010-HP_0000007-GENCC_100001"	"HGNC:225"	"ADAR"	"MONDO:0014007"	"Aicardi-Goutieres syndrome 6"	"OMIM:615010"	"Aicardi-Goutieres syndrome 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:225"	"ADAR"	"OMIM:615010"	"Aicardi-Goutieres syndrome 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-01 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"667"	"2025-01-17"
"GENCC_000101-HGNC_21285-OMIM_143870-HP_0000006-GENCC_100004"	"HGNC:21285"	"ADCY10"	"MONDO:0007748"	"hypercalciuria, absorptive, 2"	"OMIM:143870"	"{Hypercalciuria, absorptive, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21285"	"ADCY10"	"OMIM:143870"	"Hypercalciuria, absorptive, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:16"	""	""	""	"PMID: 28106320"	"77588"	"2020-12-24"
"GENCC_000101-HGNC_236-OMIM_606703-HP_0000006-GENCC_100003"	"HGNC:236"	"ADCY5"	"MONDO:0011707"	"familial dyskinesia and facial myokymia"	"OMIM:606703"	"Dyskinesia with orofacial involvement, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:236"	"ADCY5"	"OMIM:606703"	"Dyskinesia, familial, with facial myokymia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-25 13:29:17"	""	""	""	"PMID: 28106320"	"888"	"2020-12-24"
"GENCC_000101-HGNC_17416-OMIM_604352-HP_0000006-GENCC_100004"	"HGNC:17416"	"ADGRV1"	"MONDO:0011443"	"febrile seizures, familial, 4"	"OMIM:604352"	"?Febrile seizures, familial, 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17416"	"ADGRV1"	"OMIM:604352"	"Febrile seizures, familial, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-14 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9253"	"2025-01-17"
"GENCC_000101-HGNC_317-OMIM_615969-HP_0000007-GENCC_100008"	"HGNC:317"	"AFP"	"MONDO:0014424"	"congenital deficiency in alpha-fetoprotein"	"OMIM:615969"	"Alpha-fetoprotein deficiency"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:317"	"AFP"	"OMIM:615969"	"Alpha-fetoprotein deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-03 13:29:19"	""	""	""	"PMID: 28106320"	"840"	"2020-12-24"
"GENCC_000101-HGNC_321-OMIM_232400-HP_0000007-GENCC_100001"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"OMIM:232400"	"Glycogen storage disease IIIb"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:321"	"AGL"	"OMIM:232400"	"Glycogen storage disease IIIa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-30 13:29:19"	""	""	""	"PMID: 28106320"	"845"	"2020-12-24"
"GENCC_000101-HGNC_327-OMIM_600121-HP_0000007-GENCC_100003"	"HGNC:327"	"AGPS"	"MONDO:0010823"	"rhizomelic chondrodysplasia punctata type 3"	"OMIM:600121"	"Rhizomelic chondrodysplasia punctata, type 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:327"	"AGPS"	"OMIM:600121"	"Rhizomelic chondrodysplasia punctata, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:29:19"	""	""	""	"PMID: 28106320"	"5702"	"2020-12-24"
"GENCC_000101-HGNC_336-OMIM_267430-HP_0000007-GENCC_100003"	"HGNC:336"	"AGTR1"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"OMIM:267430"	"Renal tubular dysgenesis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:336"	"AGTR1"	"OMIM:267430"	"Renal tubular dysgenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:29:20"	""	""	""	"PMID: 28106320"	"857"	"2020-12-24"
"GENCC_000101-HGNC_341-OMIM_259900-HP_0000007-GENCC_100001"	"HGNC:341"	"AGXT"	"MONDO:0009823"	"primary hyperoxaluria type 1"	"OMIM:259900"	"Hyperoxaluria, primary, type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:341"	"AGXT"	"OMIM:259900"	"Hyperoxaluria, primary, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-30 13:29:20"	""	""	""	"PMID: 28106320"	"853"	"2020-12-24"
"GENCC_000101-HGNC_10648-OMIM_260600-HP_0000007-GENCC_100003"	"HGNC:10648"	"AIMP1"	"MONDO:0009843"	"hypomyelinating leukodystrophy 3"	"OMIM:260600"	"Leukodystrophy, hypomyelinating, 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10648"	"AIMP1"	"OMIM:260600"	"Leukodystrophy, hypomyelinating, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:20"	""	""	""	"PMID: 28106320"	"3677"	"2020-12-24"
"GENCC_000101-HGNC_362-OMIM_267500-HP_0000007-GENCC_100001"	"HGNC:362"	"AK2"	"MONDO:0009973"	"reticular dysgenesis"	"OMIM:267500"	"Reticular dysgenesis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:362"	"AK2"	"OMIM:267500"	"Reticular dysgenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:29:20"	""	""	""	"PMID: 28106320"	"620"	"2020-12-24"
"GENCC_000101-HGNC_877-OMIM_266100-HP_0000006-GENCC_100001"	"HGNC:877"	"ALDH7A1"	"MONDO:0020741"	"pyridoxine-dependent epilepsy caused by ALDH7A1 mutant"	"OMIM:266100"	"Epilepsy, early-onset, 4, vitamin B6-dependent"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:877"	"ALDH7A1"	"OMIM:266100"	"Epilepsy, pyridoxine-dependent"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-04 13:29:20"	""	""	""	"PMID: 28106320"	"728"	"2020-12-24"
"GENCC_000101-HGNC_23056-OMIM_601110-HP_0000007-GENCC_100003"	"HGNC:23056"	"ALG3"	"MONDO:0010998"	"ALG3-congenital disorder of glycosylation"	"OMIM:601110"	"Congenital disorder of glycosylation, type Id"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23056"	"ALG3"	"OMIM:601110"	"Congenital disorder of glycosylation, type Id"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:29:20"	""	""	""	"PMID: 28106320"	"82837"	"2020-12-24"
"GENCC_000101-HGNC_20917-OMIM_614979-HP_0000006-GENCC_100002"	"HGNC:20917"	"ALPK1"	"MONDO:0013999"	"retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome"	"OMIM:614979"	"ROSAH syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20917"	"ALPK1"	"OMIM:614979"	"ROSAH syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-05-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11589"	"2023-08-19"
"GENCC_000101-HGNC_451-OMIM_614307-HP_0000007-GENCC_100003"	"HGNC:451"	"AMACR"	"MONDO:0013681"	"alpha-methylacyl-CoA racemase deficiency"	"OMIM:614307"	"Alpha-methylacyl-CoA racemase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:451"	"AMACR"	"OMIM:614307"	"Alpha-methylacyl-CoA racemase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-03 13:29:22"	""	""	""	"PMID: 28106320"	"69122"	"2020-12-24"
"GENCC_000101-HGNC_452-OMIM_616270-HP_0032113-GENCC_100004"	"HGNC:452"	"AMBN"	"MONDO:0014560"	"amelogenesis imperfecta type 1F"	"OMIM:616270"	"Amelogenesis imperfecta, type IF"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:452"	"AMBN"	"OMIM:616270"	"Amelogenesis imperfecta, type IF"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-09-06 13:29:22"	""	""	""	"PMID: 28106320"	"675"	"2020-12-24"
"GENCC_000101-HGNC_469-OMIM_615809-HP_0000007-GENCC_100001"	"HGNC:469"	"AMPD2"	"MONDO:0014351"	"pontocerebellar hypoplasia type 9"	"OMIM:615809"	"Pontocerebellar hypoplasia, type 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:469"	"AMPD2"	"OMIM:615809"	"Pontocerebellar hypoplasia, type 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-14 13:29:23"	""	""	""	"PMID: 28106320"	"648"	"2020-12-24"
"GENCC_000101-HGNC_491-OMIM_605019-HP_0000007-GENCC_100003"	"HGNC:491"	"ANGPTL3"	"MONDO:0011505"	"familial hypobetalipoproteinemia 2"	"OMIM:605019"	"Hypobetalipoproteinemia, familial, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:491"	"ANGPTL3"	"OMIM:605019"	"Hypobetalipoproteinemia, familial, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-31 13:29:23"	""	""	""	"PMID: 28106320"	"64963"	"2020-12-24"
"GENCC_000101-HGNC_493-OMIM_600919-HP_0000006-GENCC_100002"	"HGNC:493"	"ANK2"	"MONDO:0010958"	"cardiac arrhythmia, ankyrin-B-related"	"OMIM:600919"	"Cardiac arrhythmia, ankyrin-B-related"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:493"	"ANK2"	"OMIM:600919"	"Long QT syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2015-08-28 00:00:00"	""	""	""	"PMID: 28106320"	"654"	"2020-12-24"
"GENCC_000101-HGNC_25519-OMIM_613728-HP_0000007-GENCC_100003"	"HGNC:25519"	"ANO10"	"MONDO:0013392"	"autosomal recessive spinocerebellar ataxia 10"	"OMIM:613728"	"Spinocerebellar ataxia, autosomal recessive 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25519"	"ANO10"	"OMIM:613728"	"Spinocerebellar ataxia, autosomal recessive 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:24"	""	""	""	"PMID: 28106320"	"77863"	"2020-12-24"
"GENCC_000101-HGNC_21014-OMIM_230740-HP_0000007-GENCC_100002"	"HGNC:21014"	"ANTXR1"	"MONDO:0009263"	"GAPO syndrome"	"OMIM:230740"	"GAPO syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21014"	"ANTXR1"	"OMIM:230740"	"GAPO syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-21 13:29:24"	""	""	""	"PMID: 28106320"	"50815"	"2020-12-24"
"GENCC_000101-HGNC_21014-OMIM_602089-HP_0000006-GENCC_100004"	"HGNC:21014"	"ANTXR1"	"MONDO:0011191"	"capillary infantile hemangioma"	"OMIM:602089"	"Hemangioma, capillary infantile, somatic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21014"	"ANTXR1"	"OMIM:602089"	"Hemangioma, capillary infantile, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-21 13:29:24"	""	""	""	"PMID: 28106320"	"50815"	"2020-12-24"
"GENCC_000101-HGNC_543-OMIM_614391-HP_0000005-GENCC_100005"	"HGNC:543"	"ANXA5"	"MONDO:0013729"	"pregnancy loss, recurrent, susceptibility to, 3"	"OMIM:614391"	"{Pregnancy loss, recurrent, susceptibility to, 3}"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:543"	"ANXA5"	"OMIM:614391"	"Pregnancy loss, recurrent, susceptibility to, 3"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2018-04-18 13:29:25"	""	""	""	"PMID: 28106320"	"925"	"2020-12-24"
"GENCC_000101-HGNC_564-OMIM_618587-HP_0000006-GENCC_100003"	"HGNC:564"	"AP2M1"	"MONDO:0032823"	"intellectual developmental disorder 60 with seizures"	"OMIM:618587"	"Intellectual developmental disorder 60 with seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:564"	"AP2M1"	"OMIM:618587"	"Intellectual developmental disorder 60 with seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-02 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11502"	"2024-01-02"
"GENCC_000101-HGNC_572-OMIM_614066-HP_0000007-GENCC_100003"	"HGNC:572"	"AP4B1"	"MONDO:0013551"	"hereditary spastic paraplegia 47"	"OMIM:614066"	"Spastic paraplegia 47, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:572"	"AP4B1"	"OMIM:614066"	"Spastic paraplegia 47, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-27 13:29:26"	""	""	""	"PMID: 28106320"	"82484"	"2020-12-24"
"GENCC_000101-HGNC_583-OMIM_175100-HP_0000006-GENCC_100001"	"HGNC:583"	"APC"	"MONDO:0021056"	"familial adenomatous polyposis 1"	"OMIM:175100"	"Adenomatous polyposis coli"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:583"	"APC"	"OMIM:175100"	"Brain tumor-polyposis syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:29:26"	""	""	""	"PMID: 28106320"	"960"	"2020-12-24"
"GENCC_000101-HGNC_603-OMIM_144010-HP_0000006-GENCC_100001"	"HGNC:603"	"APOB"	"MONDO:0007751"	"hypercholesterolemia, autosomal dominant, type B"	"OMIM:144010"	"Hypercholesterolemia, familial, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:603"	"APOB"	"OMIM:144010"	"Hypercholesterolemia, familial, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:29:26"	""	""	""	"PMID: 28106320"	"995"	"2020-12-24"
"GENCC_000101-HGNC_17073-OMIM_607785-HP_0000005-GENCC_100008"	"HGNC:17073"	"ARHGAP26"	"MONDO:0011908"	"juvenile myelomonocytic leukemia"	"OMIM:607785"	"Leukemia, juvenile myelomonocytic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17073"	"ARHGAP26"	"OMIM:607785"	"Leukemia, juvenile myelomonocytic, somatic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-08-31 13:29:26"	""	""	""	"PMID: 28106320"	"69236"	"2020-12-24"
"GENCC_000101-HGNC_25419-OMIM_612291-HP_0000007-GENCC_100003"	"HGNC:25419"	"ARL13B"	"MONDO:0012855"	"Joubert syndrome 8"	"OMIM:612291"	"Joubert syndrome 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25419"	"ARL13B"	"OMIM:612291"	"Joubert syndrome 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 13:29:26"	""	""	""	"PMID: 28106320"	"622530"	"2020-12-24"
"GENCC_000101-HGNC_13210-OMIM_600151-HP_0000007-GENCC_100002"	"HGNC:13210"	"ARL6"	"MONDO:0010832"	"Bardet-Biedl syndrome 3"	"OMIM:600151"	"Bardet-Biedl syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13210"	"ARL6"	"OMIM:600151"	"Bardet-Biedl syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:29:27"	""	""	""	"PMID: 28106320"	"50822"	"2020-12-24"
"GENCC_000101-HGNC_26321-OMIM_146750-HP_0000006-GENCC_100003"	"HGNC:26321"	"ASPRV1"	"MONDO:0007812"	"ichthyosis, lamellar, autosomal dominant"	"OMIM:146750"	"Ichthyosis, lamellar, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26321"	"ASPRV1"	"OMIM:146750"	"Ichthyosis, lamellar, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-02-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13786"	"2023-08-19"
"GENCC_000101-HGNC_799-OMIM_618036-HP_0000006-GENCC_100003"	"HGNC:799"	"ATP1A1"	"MONDO:0054833"	"charcot-marie-tooth disease, axonal, type 2DD"	"OMIM:618036"	"Charcot-Marie-Tooth disease, axonal, type 2DD"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:799"	"ATP1A1"	"OMIM:618036"	"Charcot-Marie-Tooth disease, axonal, type 2DD"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-08-29 13:29:28"	""	""	""	"PMID: 28106320"	"041"	"2020-12-24"
"GENCC_000101-HGNC_800-OMIM_104290-HP_0000006-GENCC_100004"	"HGNC:800"	"ATP1A2"	"MONDO:0007087"	"alternating hemiplegia of childhood 1"	"OMIM:104290"	"Alternating hemiplegia of childhood 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:800"	"ATP1A2"	"OMIM:104290"	"Alternating hemiplegia of childhood 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-12 13:29:28"	""	""	""	"PMID: 28106320"	"044"	"2020-12-24"
"GENCC_000101-HGNC_800-OMIM_602481-HP_0000006-GENCC_100001"	"HGNC:800"	"ATP1A2"	"MONDO:0011232"	"migraine, familial hemiplegic, 2"	"OMIM:602481"	"Migraine, familial hemiplegic, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:800"	"ATP1A2"	"OMIM:602481"	"Migraine, Familial hemiplegic, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-08-21 00:00:00"	""	""	""	"PMID: 28106320"	"044"	"2020-12-24"
"GENCC_000101-HGNC_851-OMIM_617403-HP_0000007-GENCC_100004"	"HGNC:851"	"ATP6V1A"	"MONDO:0027451"	"autosomal recessive cutis laxa type 2D"	"OMIM:617403"	"Cutis laxa, autosomal recessive, type IID"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:851"	"ATP6V1A"	"OMIM:617403"	"Cutis laxa, autosomal recessive, type IID"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-30 13:29:28"	""	""	""	"PMID: 28106320"	"769"	"2020-12-24"
"GENCC_000101-HGNC_851-OMIM_618012-HP_0000006-GENCC_100003"	"HGNC:851"	"ATP6V1A"	"MONDO:0020632"	"developmental and epileptic encephalopathy 93"	"OMIM:618012"	"Developmental and epileptic encephalopathy 93"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:851"	"ATP6V1A"	"OMIM:618012"	"Epileptic encephalopathy, infantile or early childhood, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-30 13:29:28"	""	""	""	"PMID: 28106320"	"769"	"2020-12-24"
"GENCC_000101-HGNC_853-OMIM_267300-HP_0000007-GENCC_100002"	"HGNC:853"	"ATP6V1B1"	"MONDO:0009968"	"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"	"OMIM:267300"	"Distal renal tubular acidosis 2 with progressive sensorineural hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:853"	"ATP6V1B1"	"OMIM:267300"	"Distal renal tubular acidosis 2 with progressive sensorineural hearing loss"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-11-13 13:29:28"	""	""	""	"PMID: 28106320"	"767"	"2020-12-24"
"GENCC_000101-HGNC_10548-OMIM_164400-HP_0000006-GENCC_100003"	"HGNC:10548"	"ATXN1"	"MONDO:0008119"	"spinocerebellar ataxia type 1"	"OMIM:164400"	"Spinocerebellar ataxia 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10548"	"ATXN1"	"OMIM:164400"	"Spinocerebellar ataxia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-20 13:29:29"	""	""	""	"PMID: 28106320"	"1982"	"2020-12-24"
"GENCC_000101-HGNC_10560-OMIM_164500-HP_0000006-GENCC_100003"	"HGNC:10560"	"ATXN7"	"MONDO:0008120"	"spinocerebellar ataxia type 7"	"OMIM:164500"	"Spinocerebellar ataxia 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10560"	"ATXN7"	"OMIM:164500"	"Spinocerebellar ataxia 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-20 13:29:29"	""	""	""	"PMID: 28106320"	"1980"	"2020-12-24"
"GENCC_000101-HGNC_930-OMIM_130070-HP_0000007-GENCC_100003"	"HGNC:930"	"B4GALT7"	"MONDO:0020682"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"OMIM:130070"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:930"	"B4GALT7"	"OMIM:130070"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:29"	""	""	""	"PMID: 28106320"	"88657"	"2020-12-24"
"GENCC_000101-HGNC_950-OMIM_614327-HP_0000006-GENCC_100001"	"HGNC:950"	"BAP1"	"MONDO:0013692"	"BAP1-related tumor predisposition syndrome"	"OMIM:614327"	"Tumor predisposition syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:950"	"BAP1"	"OMIM:614327"	"Tumor predisposition syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-24 13:29:30"	""	""	""	"PMID: 28106320"	"5980"	"2020-12-24"
"GENCC_000101-HGNC_952-OMIM_114480-HP_0000006-GENCC_100002"	"HGNC:952"	"BARD1"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:952"	"BARD1"	"OMIM:114480"	"Breast cancer, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-11-01 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92405"	"2024-01-02"
"GENCC_000101-HGNC_26648-OMIM_615989-HP_0000007-GENCC_100001"	"HGNC:26648"	"BBS12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"OMIM:615989"	"Bardet-Biedl syndrome 12"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26648"	"BBS12"	"OMIM:615989"	"Bardet-Biedl syndrome 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-29 13:29:30"	""	""	""	"PMID: 28106320"	"811943"	"2020-12-24"
"GENCC_000101-HGNC_970-OMIM_615983-HP_0000007-GENCC_100002"	"HGNC:970"	"BBS5"	"MONDO:0014434"	"Bardet-Biedl syndrome 5"	"OMIM:615983"	"Bardet-Biedl syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:970"	"BBS5"	"OMIM:615983"	"Bardet-Biedl syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:29:30"	""	""	""	"PMID: 28106320"	"863552"	"2020-12-24"
"GENCC_000101-HGNC_983-OMIM_617936-HP_0000005-GENCC_100001"	"HGNC:983"	"BCHE"	"MONDO:0015270"	"butyrylcholinesterase deficiency"	"OMIM:617936"	"{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}"	"GENCC:100001"	"Definitive"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:983"	"BCHE"	"OMIM:617936"	"Apnea, postanesthetic, susceptibility to, due to BCHE deficiency"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-08 13:29:30"	""	""	""	"PMID: 28106320"	"732"	"2020-12-24"
"GENCC_000101-HGNC_13221-OMIM_617101-HP_0000006-GENCC_100003"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"Dias-Logan syndrome"	"OMIM:617101"	"Dias-Logan syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13221"	"BCL11A"	"OMIM:617101"	"Dias-Logan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-14 13:29:30"	""	""	""	"PMID: 28106320"	"79997"	"2020-12-24"
"GENCC_000101-HGNC_1020-OMIM_262000-HP_0000007-GENCC_100003"	"HGNC:1020"	"BCS1L"	"MONDO:0009872"	"Bjornstad syndrome"	"OMIM:262000"	"Bjornstad syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1020"	"BCS1L"	"OMIM:262000"	"Bjornstad syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-27 13:29:31"	""	""	""	"PMID: 28106320"	"184"	"2020-12-24"
"GENCC_000101-HGNC_1020-OMIM_124000-HP_0000007-GENCC_100002"	"HGNC:1020"	"BCS1L"	"MONDO:0007415"	"mitochondrial complex III deficiency nuclear type 1"	"OMIM:124000"	"Mitochondrial complex III deficiency, nuclear type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1020"	"BCS1L"	"OMIM:124000"	"Mitochondrial complex III deficiency, nuclear type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-27 13:29:31"	""	""	""	"PMID: 28106320"	"184"	"2020-12-24"
"GENCC_000101-HGNC_13652-OMIM_618257-HP_0000007-GENCC_100004"	"HGNC:13652"	"BDP1"	"MONDO:0032639"	"hearing loss, autosomal recessive 112"	"OMIM:618257"	"?Deafness, autosomal recessive 112"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13652"	"BDP1"	"OMIM:618257"	"Deafness, autosomal recessive 112"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:31"	""	""	""	"PMID: 28106320"	"77580"	"2020-12-24"
"GENCC_000101-HGNC_1052-OMIM_255200-HP_0000007-GENCC_100003"	"HGNC:1052"	"BIN1"	"MONDO:0009709"	"myopathy, centronuclear, 2"	"OMIM:255200"	"Centronuclear myopathy 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1052"	"BIN1"	"OMIM:255200"	"Centronuclear myopathy 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-14 13:29:31"	""	""	""	"PMID: 28106320"	"640"	"2020-12-24"
"GENCC_000101-HGNC_1077-OMIM_616849-HP_0000006-GENCC_100003"	"HGNC:1077"	"BMPR1B"	"MONDO:0014798"	"brachydactyly type A1D"	"OMIM:616849"	"Brachydactyly, type A1, D"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1077"	"BMPR1B"	"OMIM:616849"	"Brachydactyly, type A1, D"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-02 13:29:31"	""	""	""	"PMID: 28106320"	"175"	"2020-12-24"
"GENCC_000101-HGNC_1077-OMIM_609441-HP_0000007-GENCC_100003"	"HGNC:1077"	"BMPR1B"	"MONDO:0012274"	"acromesomelic dysplasia 3"	"OMIM:609441"	"Acromesomelic dysplasia 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1077"	"BMPR1B"	"OMIM:609441"	"Acromesomelic dysplasia, Demirhan type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-02 13:29:32"	""	""	""	"PMID: 28106320"	"175"	"2020-12-24"
"GENCC_000101-HGNC_14255-OMIM_617333-HP_0000006-GENCC_100002"	"HGNC:14255"	"BRPF1"	"MONDO:0015022"	"intellectual developmental disorder with dysmorphic facies and ptosis"	"OMIM:617333"	"Intellectual developmental disorder with dysmorphic facies and ptosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14255"	"BRPF1"	"OMIM:617333"	"Intellectual developmental disorder with dysmorphic facies and ptosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-07-30 13:29:32"	""	""	""	"PMID: 28106320"	"4516"	"2020-12-24"
"GENCC_000101-HGNC_1122-OMIM_253260-HP_0000007-GENCC_100001"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"biotinidase deficiency"	"OMIM:253260"	"Biotinidase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1122"	"BTD"	"OMIM:253260"	"Biotinidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-26 13:29:32"	""	""	""	"PMID: 28106320"	"151"	"2020-12-24"
"GENCC_000101-HGNC_1241-OMIM_613652-HP_0000007-GENCC_100003"	"HGNC:1241"	"C1QA"	"MONDO:0013343"	"C1Q deficiency"	"OMIM:613652"	"C1q deficiency 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1241"	"C1QA"	"OMIM:613652"	"C1q deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-26 13:29:32"	""	""	""	"PMID: 28106320"	"486"	"2020-12-24"
"GENCC_000101-HGNC_1245-OMIM_613652-HP_0000007-GENCC_100002"	"HGNC:1245"	"C1QC"	"MONDO:0013343"	"C1Q deficiency"	"OMIM:613652"	"C1q deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1245"	"C1QC"	"OMIM:613652"	"C1q deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-14 13:29:33"	""	""	""	"PMID: 28106320"	"480"	"2020-12-24"
"GENCC_000101-HGNC_1323-OMIM_614380-HP_0000007-GENCC_100003"	"HGNC:1323"	"C4A"	"MONDO:0013721"	"complement component 4a deficiency"	"OMIM:614380"	"C4a deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1323"	"C4A"	"OMIM:614380"	"C4a deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:29:33"	""	""	""	"PMID: 28106320"	"462"	"2020-12-24"
"GENCC_000101-HGNC_1346-OMIM_610102-HP_0000007-GENCC_100002"	"HGNC:1346"	"C7"	"MONDO:0012412"	"complement component 7 deficiency"	"OMIM:610102"	"C7 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1346"	"C7"	"OMIM:610102"	"C7 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-30 13:29:33"	""	""	""	"PMID: 28106320"	"492"	"2020-12-24"
"GENCC_000101-HGNC_1352-OMIM_613790-HP_0000007-GENCC_100004"	"HGNC:1352"	"C8A"	"MONDO:0013422"	"type I complement component 8 deficiency"	"OMIM:613790"	"C8 deficiency, type I"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1352"	"C8A"	"OMIM:613790"	"C8 deficiency, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-12 13:29:34"	""	""	""	"PMID: 28106320"	"498"	"2020-12-24"
"GENCC_000101-HGNC_1353-OMIM_613789-HP_0000007-GENCC_100003"	"HGNC:1353"	"C8B"	"MONDO:0013421"	"type II complement component 8 deficiency"	"OMIM:613789"	"C8 deficiency, type II"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1353"	"C8B"	"OMIM:613789"	"C8 deficiency, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-19 13:29:34"	""	""	""	"PMID: 28106320"	"496"	"2020-12-24"
"GENCC_000101-HGNC_1391-OMIM_615474-HP_0000006-GENCC_100003"	"HGNC:1391"	"CACNA1D"	"MONDO:0014200"	"aldosterone-producing adenoma with seizures and neurological abnormalities"	"OMIM:615474"	"Primary aldosteronism, seizures, and neurologic abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1391"	"CACNA1D"	"OMIM:615474"	"Primary aldosteronism, seizures, and neurologic abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-03 13:29:34"	""	""	""	"PMID: 28106320"	"441"	"2020-12-24"
"GENCC_000101-HGNC_1392-OMIM_618285-HP_0000006-GENCC_100002"	"HGNC:1392"	"CACNA1E"	"MONDO:0032657"	"developmental and epileptic encephalopathy, 69"	"OMIM:618285"	"Developmental and epileptic encephalopathy 69"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1392"	"CACNA1E"	"OMIM:618285"	"Epileptic encephalopathy, early infantile, 69"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-03-29 13:29:34"	""	""	""	"PMID: 28106320"	"444"	"2020-12-24"
"GENCC_000101-HGNC_1397-OMIM_170400-HP_0000006-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0042979"	"hypokalemic periodic paralysis, type 1"	"OMIM:170400"	"Hypokalemic periodic paralysis, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1397"	"CACNA1S"	"OMIM:170400"	"Hypokalemic periodic paralysis, type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-07-30 13:29:34"	""	""	""	"PMID: 28106320"	"443"	"2020-12-24"
"GENCC_000101-HGNC_1397-OMIM_601887-HP_0000006-GENCC_100003"	"HGNC:1397"	"CACNA1S"	"MONDO:0011163"	"malignant hyperthermia, susceptibility to, 5"	"OMIM:601887"	"{Malignant hyperthermia susceptibility 5}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1397"	"CACNA1S"	"OMIM:601887"	"Malignant hyperthermia susceptibility 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-09-19 00:00:00"	""	""	""	"PMID: 28106320"	"443"	"2020-12-24"
"GENCC_000101-HGNC_1400-OMIM_618501-HP_0000007-GENCC_100002"	"HGNC:1400"	"CACNA2D2"	"MONDO:0032788"	"cerebellar atrophy with seizures and variable developmental delay"	"OMIM:618501"	"Cerebellar atrophy with seizures and variable developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1400"	"CACNA2D2"	"OMIM:618501"	"Cerebellar atrophy with seizures and variable developmental delay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-10-06 13:29:35"	""	""	""	"PMID: 28106320"	"3670"	"2020-12-24"
"GENCC_000101-HGNC_1460-OMIM_618095-HP_0000007-GENCC_100004"	"HGNC:1460"	"CAMK2A"	"MONDO:0054861"	"intellectual disability, autosomal recessive 63"	"OMIM:618095"	"?Intellectual developmental disorder, autosomal recessive 63"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1460"	"CAMK2A"	"OMIM:618095"	"Mental retardation, autosomal recessive 63"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-29 13:29:36"	""	""	""	"PMID: 28106320"	"587"	"2020-12-24"
"GENCC_000101-HGNC_1460-OMIM_617798-HP_0000006-GENCC_100003"	"HGNC:1460"	"CAMK2A"	"MONDO:0030919"	"intellectual disability, autosomal dominant 53"	"OMIM:617798"	"Intellectual developmental disorder, autosomal dominant 53"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1460"	"CAMK2A"	"OMIM:617798"	"Mental retardation, autosomal dominant 53"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-10-03 00:00:00"	""	""	""	"PMID: 28106320"	"587"	"2020-12-24"
"GENCC_000101-HGNC_24323-OMIM_601665-HP_0000006-GENCC_100004"	"HGNC:24323"	"CARTPT"	"MONDO:0019182"	"inherited obesity"	"OMIM:601665"	"{Obesity, late-onset}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24323"	"CARTPT"	"OMIM:601665"	"Obesity, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:37"	""	""	""	"PMID: 28106320"	"3124"	"2020-12-24"
"GENCC_000101-HGNC_1509-OMIM_607271-HP_0000007-GENCC_100003"	"HGNC:1509"	"CASP8"	"MONDO:0011804"	"autoimmune lymphoproliferative syndrome type 2B"	"OMIM:607271"	"?Caspase 8 lymphadenopathy syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1509"	"CASP8"	"OMIM:607271"	"Autoimmune lymphoproliferative syndrome, type IIB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-02 13:29:38"	""	""	""	"PMID: 28106320"	"508"	"2020-12-24"
"GENCC_000101-HGNC_1513-OMIM_611938-HP_0000007-GENCC_100003"	"HGNC:1513"	"CASQ2"	"MONDO:0012762"	"catecholaminergic polymorphic ventricular tachycardia 2"	"OMIM:611938"	"Ventricular tachycardia, catecholaminergic polymorphic, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1513"	"CASQ2"	"OMIM:611938"	"Ventricular tachycardia, catecholaminergic polymorphic, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:38"	""	""	""	"PMID: 28106320"	"507"	"2020-12-24"
"GENCC_000101-HGNC_1515-OMIM_616295-HP_0000007-GENCC_100003"	"HGNC:1515"	"CAST"	"MONDO:0014574"	"peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	"OMIM:616295"	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1515"	"CAST"	"OMIM:616295"	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-21 13:29:38"	""	""	""	"PMID: 28106320"	"598"	"2020-12-24"
"GENCC_000101-HGNC_1529-OMIM_606072-HP_0000006-GENCC_100003"	"HGNC:1529"	"CAV3"	"MONDO:0019947"	"rippling muscle disease 2"	"OMIM:606072"	"Rippling muscle disease 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1529"	"CAV3"	"OMIM:606072"	"Rippling muscle disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:39"	""	""	""	"PMID: 28106320"	"573"	"2020-12-24"
"GENCC_000101-HGNC_1529-OMIM_611818-HP_0000006-GENCC_100003"	"HGNC:1529"	"CAV3"	"MONDO:0012736"	"long QT syndrome 9"	"OMIM:611818"	"Long QT syndrome 9"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1529"	"CAV3"	"OMIM:611818"	"Long QT syndrome 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:39"	""	""	""	"PMID: 28106320"	"573"	"2020-12-24"
"GENCC_000101-HGNC_28163-OMIM_209900-HP_0000007-GENCC_100008"	"HGNC:28163"	"CCDC28B"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"OMIM:209900"	"Bardet-Biedl syndrome 1"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28163"	"CCDC28B"	"OMIM:209900"	"Bardet-Biedl syndrome 1, modifier of"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-19 13:29:40"	""	""	""	"PMID: 28106320"	"43802"	"2020-12-24"
"GENCC_000101-HGNC_18111-OMIM_607453-HP_0000006-GENCC_100004"	"HGNC:18111"	"CCDC50"	"MONDO:0011832"	"autosomal dominant nonsyndromic hearing loss 44"	"OMIM:607453"	"?Deafness, autosomal dominant 44"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18111"	"CCDC50"	"OMIM:607453"	"Deafness, autosomal dominant 44"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:40"	""	""	""	"PMID: 28106320"	"876894"	"2020-12-24"
"GENCC_000101-HGNC_18576-OMIM_615872-HP_0000007-GENCC_100003"	"HGNC:18576"	"CCNO"	"MONDO:0014378"	"primary ciliary dyskinesia 29"	"OMIM:615872"	"Ciliary dyskinesia, primary, 29"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18576"	"CCNO"	"OMIM:615872"	"Ciliary dyskinesia, primary, 29"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-29 13:29:40"	""	""	""	"PMID: 28106320"	"82923"	"2020-12-24"
"GENCC_000101-HGNC_1618-OMIM_256840-HP_0000007-GENCC_100004"	"HGNC:1618"	"CCT5"	"MONDO:0009748"	"hereditary sensory and autonomic neuropathy with spastic paraplegia"	"OMIM:256840"	"?Neuropathy, hereditary sensory, with spastic paraplegia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1618"	"CCT5"	"OMIM:256840"	"Neuropathy, hereditary sensory, with spastic paraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-23 13:29:40"	""	""	""	"PMID: 28106320"	"66305"	"2020-12-24"
"GENCC_000101-HGNC_17935-OMIM_613393-HP_0000006-GENCC_100008"	"HGNC:17935"	"CD207"	"MONDO:0013251"	"Birbeck granule deficiency"	"OMIM:613393"	"[?Birbeck granule deficiency]"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17935"	"CD207"	"OMIM:613393"	"Birbeck granule deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-01-26 13:29:41"	""	""	""	"PMID: 28106320"	"72053"	"2020-12-24"
"GENCC_000101-HGNC_1677-OMIM_610163-HP_0000007-GENCC_100004"	"HGNC:1677"	"CD247"	"MONDO:0012426"	"immunodeficiency 25"	"OMIM:610163"	"?Immunodeficiency 25"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1677"	"CD247"	"OMIM:610163"	"Immunodeficiency 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:41"	""	""	""	"PMID: 28106320"	"383"	"2020-12-24"
"GENCC_000101-HGNC_14258-OMIM_607832-HP_0000007-GENCC_100004"	"HGNC:14258"	"CD2AP"	"MONDO:0011917"	"focal segmental glomerulosclerosis 3, susceptibility to"	"OMIM:607832"	"Glomerulosclerosis, focal segmental, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14258"	"CD2AP"	"OMIM:607832"	"Glomerulosclerosis, focal segmental, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-21 13:29:42"	""	""	""	"PMID: 28106320"	"69124"	"2020-12-24"
"GENCC_000101-HGNC_6953-OMIM_612922-HP_0032113-GENCC_100001"	"HGNC:6953"	"CD46"	"MONDO:0013040"	"atypical hemolytic-uremic syndrome with MCP/CD46 anomaly"	"OMIM:612922"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 2}"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6953"	"CD46"	"OMIM:612922"	"Hemolytic uremic syndrome, atypical, susceptibility to, 2"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-29 13:29:42"	""	""	""	"PMID: 28106320"	"0843"	"2020-12-24"
"GENCC_000101-HGNC_16892-OMIM_211750-HP_0000007-GENCC_100004"	"HGNC:16892"	"CD96"	"MONDO:0008893"	"C syndrome"	"OMIM:211750"	"C syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16892"	"CD96"	"OMIM:211750"	"C syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:29:42"	""	""	""	"PMID: 28106320"	"82667"	"2020-12-24"
"GENCC_000101-HGNC_1718-OMIM_608653-HP_0000007-GENCC_100004"	"HGNC:1718"	"CDC14A"	"MONDO:0012091"	"autosomal recessive nonsyndromic hearing loss 32"	"OMIM:608653"	"Deafness, autosomal recessive 32, with or without immotile sperm"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1718"	"CDC14A"	"OMIM:608653"	"Deafness, autosomal recessive 32, with or without immotile sperm"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-23 13:29:42"	""	""	""	"PMID: 28106320"	"5771"	"2020-12-24"
"GENCC_000101-HGNC_1736-OMIM_616737-HP_0000006-GENCC_100002"	"HGNC:1736"	"CDC42"	"MONDO:0014757"	"macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"	"OMIM:616737"	"Takenouchi-Kosaki syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1736"	"CDC42"	"OMIM:616737"	"Takenouchi-Kosaki syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-11-21 13:29:43"	""	""	""	"PMID: 28106320"	"335"	"2020-12-24"
"GENCC_000101-HGNC_24609-OMIM_618620-HP_0000006-GENCC_100004"	"HGNC:24609"	"CELA2A"	"MONDO:0032837"	"abdominal obesity-metabolic syndrome 4"	"OMIM:618620"	"Abdominal obesity-metabolic syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24609"	"CELA2A"	"OMIM:618620"	"Abdominal obesity-metabolic syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-30 13:29:44"	""	""	""	"PMID: 28106320"	"19291"	"2020-12-24"
"GENCC_000101-HGNC_1856-OMIM_616051-HP_0000007-GENCC_100004"	"HGNC:1856"	"CENPE"	"MONDO:0014473"	"microcephaly 13, primary, autosomal recessive"	"OMIM:616051"	"?Microcephaly 13, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1856"	"CENPE"	"OMIM:616051"	"Microcephaly 13, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:44"	""	""	""	"PMID: 28106320"	"8216"	"2020-12-24"
"GENCC_000101-HGNC_25815-OMIM_614728-HP_0000007-GENCC_100003"	"HGNC:25815"	"CEP63"	"MONDO:0013871"	"Seckel syndrome 6"	"OMIM:614728"	"?Seckel syndrome 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25815"	"CEP63"	"OMIM:614728"	"Seckel syndrome 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-04-18 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61888"	"2023-08-19"
"GENCC_000101-HGNC_25325-OMIM_618664-HP_0000007-GENCC_100004"	"HGNC:25325"	"CFAP65"	"MONDO:0032859"	"spermatogenic failure 40"	"OMIM:618664"	"Spermatogenic failure 40"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25325"	"CFAP65"	"OMIM:618664"	"Spermatogenic failure 40"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-08-29 13:29:44"	""	""	""	"PMID: 28106320"	"677828"	"2020-12-24"
"GENCC_000101-HGNC_1037-OMIM_615561-HP_0000007-GENCC_100003"	"HGNC:1037"	"CFB"	"MONDO:0014255"	"complement factor b deficiency"	"OMIM:615561"	"?Complement factor B deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1037"	"CFB"	"OMIM:615561"	"Complement factor B deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-29 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78170"	"2024-01-02"
"GENCC_000101-HGNC_4888-OMIM_235400-HP_0000006-GENCC_100004"	"HGNC:4888"	"CFHR1"	"MONDO:0009335"	"hemolytic uremic syndrome, atypical, susceptibility to, 1"	"OMIM:235400"	"{Hemolytic uremic syndrome, atypical, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4888"	"CFHR1"	"OMIM:235400"	"Hemolytic uremic syndrome, atypical, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:29:45"	""	""	""	"PMID: 28106320"	"9245"	"2020-12-24"
"GENCC_000101-HGNC_1915-OMIM_617682-HP_0000006-GENCC_100004"	"HGNC:1915"	"CHD1"	"MONDO:0060568"	"Pilarowski-Bjornsson syndrome"	"OMIM:617682"	"Pilarowski-Bjornsson syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1915"	"CHD1"	"OMIM:617682"	"Pilarowski-Bjornsson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-13 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11846"	"2025-01-17"
"GENCC_000101-HGNC_1935-OMIM_601626-HP_0000005-GENCC_100008"	"HGNC:1935"	"CHIC2"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1935"	"CHIC2"	"OMIM:601626"	"Leukemia, acute myeloid"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-20 13:29:46"	""	""	""	"PMID: 28106320"	"61788"	"2020-12-24"
"GENCC_000101-HGNC_24537-OMIM_600795-HP_0000006-GENCC_100003"	"HGNC:24537"	"CHMP2B"	"MONDO:0010936"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"OMIM:600795"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24537"	"CHMP2B"	"OMIM:600795"	"Dementia, familial, nonspecific"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:46"	""	""	""	"PMID: 28106320"	"67345"	"2020-12-24"
"GENCC_000101-HGNC_24537-OMIM_614696-HP_0000006-GENCC_100003"	"HGNC:24537"	"CHMP2B"	"MONDO:0013861"	"amyotrophic lateral sclerosis type 17"	"OMIM:614696"	"OMIM:614696"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24537"	"CHMP2B"	"OMIM:614696"	"Amyotrophic lateral sclerosis 17"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:29:47"	""	""	""	"PMID: 28106320"	"67345"	"2020-12-24"
"GENCC_000101-HGNC_1967-OMIM_265000-HP_0000007-GENCC_100002"	"HGNC:1967"	"CHRNG"	"MONDO:0009926"	"autosomal recessive multiple pterygium syndrome"	"OMIM:265000"	"Escobar syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1967"	"CHRNG"	"OMIM:265000"	"Escobar syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-06-25 13:29:47"	""	""	""	"PMID: 28106320"	"8801"	"2020-12-24"
"GENCC_000101-HGNC_24212-OMIM_604928-HP_0000007-GENCC_100003"	"HGNC:24212"	"CISD2"	"MONDO:0011502"	"Wolfram syndrome 2"	"OMIM:604928"	"Wolfram syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24212"	"CISD2"	"OMIM:604928"	"Wolfram syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-09 13:29:47"	""	""	""	"PMID: 28106320"	"039571"	"2020-12-24"
"GENCC_000101-HGNC_2020-OMIM_615651-HP_0000007-GENCC_100003"	"HGNC:2020"	"CLCN2"	"MONDO:0014292"	"leukoencephalopathy with mild cerebellar ataxia and white matter edema"	"OMIM:615651"	"Leukoencephalopathy with ataxia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2020"	"CLCN2"	"OMIM:615651"	"Leukoencephalopathy with ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-12 13:29:47"	""	""	""	"PMID: 28106320"	"8858"	"2020-12-24"
"GENCC_000101-HGNC_2020-OMIM_605635-HP_0000006-GENCC_100003"	"HGNC:2020"	"CLCN2"	"MONDO:0011576"	"familial hyperaldosteronism type II"	"OMIM:605635"	"Hyperaldosteronism, familial, type II"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2020"	"CLCN2"	"OMIM:605635"	"Hyperaldosteronism, familial, type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-12 13:29:47"	""	""	""	"PMID: 28106320"	"8858"	"2020-12-24"
"GENCC_000101-HGNC_2026-OMIM_613090-HP_0000005-GENCC_100003"	"HGNC:2026"	"CLCNKA"	"MONDO:0000909"	"Bartter disease type 4B"	"OMIM:613090"	"Bartter syndrome, type 4b, digenic"	"GENCC:100003"	"Moderate"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2026"	"CLCNKA"	"OMIM:613090"	"Bartter syndrome, type 4b, digenic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-28 13:29:48"	""	""	""	"PMID: 28106320"	"8854"	"2020-12-24"
"GENCC_000101-HGNC_2040-OMIM_248190-HP_0000007-GENCC_100002"	"HGNC:2040"	"CLDN19"	"MONDO:0009548"	"renal hypomagnesemia 5 with ocular involvement"	"OMIM:248190"	"Hypomagnesemia 5, renal, with ocular involvement"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2040"	"CLDN19"	"OMIM:248190"	"Hypomagnesemia 5, renal, with ocular involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-06 13:29:48"	""	""	""	"PMID: 28106320"	"803018"	"2020-12-24"
"GENCC_000101-HGNC_13517-OMIM_616042-HP_0000007-GENCC_100004"	"HGNC:13517"	"CLIC5"	"MONDO:0014469"	"autosomal recessive nonsyndromic hearing loss 103"	"OMIM:616042"	"?Deafness, autosomal recessive 103"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13517"	"CLIC5"	"OMIM:616042"	"Deafness, autosomal recessive 103"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-11-06 13:29:48"	""	""	""	"PMID: 28106320"	"79027"	"2020-12-24"
"GENCC_000101-HGNC_11968-OMIM_617929-HP_0000007-GENCC_100004"	"HGNC:11968"	"CNPY3"	"MONDO:0033369"	"developmental and epileptic encephalopathy, 60"	"OMIM:617929"	"Developmental and epileptic encephalopathy 60"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11968"	"CNPY3"	"OMIM:617929"	"Epileptic encephalopathy, early infantile, 60"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-18 13:29:48"	""	""	""	"PMID: 28106320"	"82137"	"2020-12-24"
"GENCC_000101-HGNC_2187-OMIM_609706-HP_0000007-GENCC_100003"	"HGNC:2187"	"COL11A2"	"MONDO:0012333"	"autosomal recessive nonsyndromic hearing loss 53"	"OMIM:609706"	"Deafness, autosomal recessive 53"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2187"	"COL11A2"	"OMIM:609706"	"Deafness, autosomal recessive 53"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-11-03 00:00:00"	""	""	""	"PMID: 28106320"	"8926"	"2020-12-24"
"GENCC_000101-HGNC_2187-OMIM_184840-HP_0000006-GENCC_100003"	"HGNC:2187"	"COL11A2"	"MONDO:0008490"	"otospondylomegaepiphyseal dysplasia, autosomal dominant"	"OMIM:184840"	"Otospondylomegaepiphyseal dysplasia, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2187"	"COL11A2"	"OMIM:184840"	"Otospondylomegaepiphyseal dysplasia, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-02 13:29:48"	""	""	""	"PMID: 28106320"	"8926"	"2020-12-24"
"GENCC_000101-HGNC_2187-OMIM_215150-HP_0000007-GENCC_100003"	"HGNC:2187"	"COL11A2"	"MONDO:0044206"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"OMIM:215150"	"Otospondylomegaepiphyseal dysplasia, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2187"	"COL11A2"	"OMIM:215150"	"Otospondylomegaepiphyseal dysplasia, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-11-03 00:00:00"	""	""	""	"PMID: 28106320"	"8926"	"2020-12-24"
"GENCC_000101-HGNC_18603-OMIM_616219-HP_0000007-GENCC_100003"	"HGNC:18603"	"COL25A1"	"MONDO:0014538"	"fibrosis of extraocular muscles, congenital, 5"	"OMIM:616219"	"Fibrosis of extraocular muscles, congenital, 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18603"	"COL25A1"	"OMIM:616219"	"Fibrosis of extraocular muscles, congenital, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:48"	""	""	""	"PMID: 28106320"	"50742"	"2020-12-24"
"GENCC_000101-HGNC_2206-OMIM_203780-HP_0000007-GENCC_100001"	"HGNC:2206"	"COL4A4"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"OMIM:203780"	"Alport syndrome 2, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2206"	"COL4A4"	"OMIM:203780"	"Alport syndrome 2, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-12-30 00:00:00"	""	""	""	"PMID: 28106320"	"8651"	"2020-12-24"
"GENCC_000101-HGNC_2206-OMIM_141200-HP_0000006-GENCC_100003"	"HGNC:2206"	"COL4A4"	"MONDO:0007709"	"hematuria, benign familial, 1"	"OMIM:141200"	"Hematuria, familial benign, 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2206"	"COL4A4"	"OMIM:141200"	"Hematuria, familial benign"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-14 13:29:49"	""	""	""	"PMID: 28106320"	"8651"	"2020-12-24"
"GENCC_000101-HGNC_2213-OMIM_158810-HP_0032113-GENCC_100001"	"HGNC:2213"	"COL6A3"	"MONDO:0024530"	"Bethlem myopathy 1A"	"OMIM:158810"	"Bethlem myopathy 1A"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2213"	"COL6A3"	"OMIM:158810"	"Bethlem myopathy 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-09-14 00:00:00"	""	""	""	"PMID: 28106320"	"8639"	"2020-12-24"
"GENCC_000101-HGNC_2213-OMIM_616411-HP_0000007-GENCC_100005"	"HGNC:2213"	"COL6A3"	"MONDO:0014627"	"dystonia 27"	"OMIM:616411"	"Dystonia 27"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2213"	"COL6A3"	"OMIM:616411"	"Dystonia 27"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2018-08-30 13:29:49"	""	""	""	"PMID: 28106320"	"8639"	"2020-12-24"
"GENCC_000101-HGNC_2213-OMIM_254090-HP_0032113-GENCC_100002"	"HGNC:2213"	"COL6A3"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2213"	"COL6A3"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2015-09-14 00:00:00"	""	""	""	"PMID: 28106320"	"8639"	"2020-12-24"
"GENCC_000101-HGNC_2217-OMIM_614135-HP_0000007-GENCC_100004"	"HGNC:2217"	"COL9A1"	"MONDO:0013591"	"epiphyseal dysplasia, multiple, 6"	"OMIM:614135"	"?Epiphyseal dysplasia, multiple, 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2217"	"COL9A1"	"OMIM:614135"	"Epiphyseal dysplasia, multiple, 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:49"	""	""	""	"PMID: 28106320"	"8634"	"2020-12-24"
"GENCC_000101-HGNC_2217-OMIM_614134-HP_0000007-GENCC_100003"	"HGNC:2217"	"COL9A1"	"MONDO:0013590"	"Stickler syndrome, type 4"	"OMIM:614134"	"Stickler syndrome, type IV"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2217"	"COL9A1"	"OMIM:614134"	"Stickler syndrome, type IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-10-31 00:00:00"	""	""	""	"PMID: 28106320"	"8634"	"2020-12-24"
"GENCC_000101-HGNC_2295-OMIM_604290-HP_0000007-GENCC_100001"	"HGNC:2295"	"CP"	"MONDO:0011426"	"aceruloplasminemia"	"OMIM:604290"	"Aceruloplasminemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2295"	"CP"	"OMIM:604290"	"Hemosiderosis, systemic, due to aceruloplasminemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-16 13:29:50"	""	""	""	"PMID: 28106320"	"8971"	"2020-12-24"
"GENCC_000101-HGNC_2336-OMIM_614699-HP_0000007-GENCC_100003"	"HGNC:2336"	"CR2"	"MONDO:0013862"	"immunodeficiency, common variable, 7"	"OMIM:614699"	"?Immunodeficiency, common variable, 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2336"	"CR2"	"OMIM:614699"	"Immunodeficiency, common variable, 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:50"	""	""	""	"PMID: 28106320"	"8952"	"2020-12-24"
"GENCC_000101-HGNC_2379-OMIM_610682-HP_0000007-GENCC_100002"	"HGNC:2379"	"CRTAP"	"MONDO:0012536"	"osteogenesis imperfecta type 7"	"OMIM:610682"	"Osteogenesis imperfecta, type VII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2379"	"CRTAP"	"OMIM:610682"	"Osteogenesis imperfecta, type VII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-06 13:29:51"	""	""	""	"PMID: 28106320"	"82038"	"2020-12-24"
"GENCC_000101-HGNC_2395-OMIM_115900-HP_0032113-GENCC_100004"	"HGNC:2395"	"CRYBA2"	"MONDO:0007283"	"cataract 42"	"OMIM:115900"	"?Cataract 42"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2395"	"CRYBA2"	"OMIM:115900"	"Cataract 42"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:29:51"	""	""	""	"PMID: 28106320"	"8086"	"2020-12-24"
"GENCC_000101-HGNC_2433-OMIM_221820-HP_0000006-GENCC_100001"	"HGNC:2433"	"CSF1R"	"MONDO:0009096"	"hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"	"OMIM:221820"	"Leukoencephalopathy, diffuse hereditary, with spheroids 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2433"	"CSF1R"	"OMIM:221820"	"Leukoencephalopathy, diffuse hereditary, with spheroids"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:29:51"	""	""	""	"PMID: 28106320"	"8091"	"2020-12-24"
"GENCC_000101-HGNC_2439-OMIM_617014-HP_0000007-GENCC_100002"	"HGNC:2439"	"CSF3R"	"MONDO:0014865"	"autosomal recessive severe congenital neutropenia due to CSF3R deficiency"	"OMIM:617014"	"Neutropenia, severe congenital, 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2439"	"CSF3R"	"OMIM:617014"	"Neutropenia, severe congenital, 7, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-08 13:29:52"	""	""	""	"PMID: 28106320"	"8008"	"2020-12-24"
"GENCC_000101-HGNC_2481-OMIM_607936-HP_0000007-GENCC_100003"	"HGNC:2481"	"CSTA"	"MONDO:0011937"	"peeling skin syndrome 4"	"OMIM:607936"	"Peeling skin syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2481"	"CSTA"	"OMIM:607936"	"Peeling skin syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-20 13:29:52"	""	""	""	"PMID: 28106320"	"8047"	"2020-12-24"
"GENCC_000101-HGNC_2501-OMIM_219500-HP_0000007-GENCC_100003"	"HGNC:2501"	"CTH"	"MONDO:0009058"	"cystathioninuria"	"OMIM:219500"	"Cystathioninuria"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2501"	"CTH"	"OMIM:219500"	"Cystathioninuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-21 13:29:52"	""	""	""	"PMID: 28106320"	"8038"	"2020-12-24"
"GENCC_000101-HGNC_2505-OMIM_616100-HP_0000006-GENCC_100002"	"HGNC:2505"	"CTLA4"	"MONDO:0014493"	"autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency"	"OMIM:616100"	"Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2505"	"CTLA4"	"OMIM:616100"	"Autoimmune lymphoproliferative syndrome, type V"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:29:52"	""	""	""	"PMID: 28106320"	"8039"	"2020-12-24"
"GENCC_000101-HGNC_2510-OMIM_618174-HP_0000007-GENCC_100003"	"HGNC:2510"	"CTNNA2"	"MONDO:0032578"	"cortical dysplasia, complex, with other brain malformations 9"	"OMIM:618174"	"Cortical dysplasia, complex, with other brain malformations 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2510"	"CTNNA2"	"OMIM:618174"	"Cortical dysplasia, complex, with other brain malformations 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-02 13:29:53"	""	""	""	"PMID: 28106320"	"8031"	"2020-12-24"
"GENCC_000101-HGNC_2514-OMIM_617572-HP_0000006-GENCC_100003"	"HGNC:2514"	"CTNNB1"	"MONDO:0033123"	"exudative vitreoretinopathy 7"	"OMIM:617572"	"Exudative vitreoretinopathy 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2514"	"CTNNB1"	"OMIM:617572"	"Exudative vitreoretinopathy 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-19 13:29:53"	""	""	""	"PMID: 28106320"	"8033"	"2020-12-24"
"GENCC_000101-HGNC_2514-OMIM_615075-HP_0000006-GENCC_100002"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"OMIM:615075"	"Neurodevelopmental disorder with spastic diplegia and visual defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2514"	"CTNNB1"	"OMIM:615075"	"Neurodevelopmental disorder with spastic diplegia and visual defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2016-05-31 00:00:00"	""	""	""	"PMID: 28106320"	"8033"	"2020-12-24"
"GENCC_000101-HGNC_2523-OMIM_167800-HP_0000006-GENCC_100001"	"HGNC:2523"	"CTRC"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2523"	"CTRC"	"OMIM:167800"	"Pancreatitis, chronic, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-07-19 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"88118"	"2024-01-02"
"GENCC_000101-HGNC_2536-OMIM_265800-HP_0000007-GENCC_100001"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"OMIM:265800"	"Pycnodysostosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2536"	"CTSK"	"OMIM:265800"	"Pycnodysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-26 13:29:54"	""	""	""	"PMID: 28106320"	"8789"	"2020-12-24"
"GENCC_000101-HGNC_2553-OMIM_614496-HP_0000006-GENCC_100002"	"HGNC:2553"	"CUL3"	"MONDO:0013782"	"pseudohypoaldosteronism type 2E"	"OMIM:614496"	"Pseudohypoaldosteronism, type IIE"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2553"	"CUL3"	"OMIM:614496"	"Pseudohypoaldosteronism, type IIE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-14 13:29:54"	""	""	""	"PMID: 28106320"	"5076"	"2020-12-24"
"GENCC_000101-HGNC_21024-OMIM_273750-HP_0000007-GENCC_100001"	"HGNC:21024"	"CUL7"	"MONDO:0010117"	"3M syndrome 1"	"OMIM:273750"	"3-M syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21024"	"CUL7"	"OMIM:273750"	"3-M syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-29 13:29:54"	""	""	""	"PMID: 28106320"	"3562"	"2020-12-24"
"GENCC_000101-HGNC_2561-OMIM_193670-HP_0000006-GENCC_100003"	"HGNC:2561"	"CXCR4"	"MONDO:0008674"	"WHIM syndrome"	"OMIM:193670"	"Myelokathexis, isolated"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2561"	"CXCR4"	"OMIM:193670"	"WHIM syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-05 13:29:55"	""	""	""	"PMID: 28106320"	"4576"	"2020-12-24"
"GENCC_000101-HGNC_20581-OMIM_614416-HP_0000007-GENCC_100003"	"HGNC:20581"	"CYP26B1"	"MONDO:0013740"	"lethal occipital encephalocele-skeletal dysplasia syndrome"	"OMIM:614416"	"Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20581"	"CYP26B1"	"OMIM:614416"	"Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-07 13:29:55"	""	""	""	"PMID: 28106320"	"71129"	"2020-12-24"
"GENCC_000101-HGNC_25538-OMIM_611105-HP_0000006-GENCC_100001"	"HGNC:25538"	"DARS2"	"MONDO:0012622"	"leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"	"OMIM:611105"	"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25538"	"DARS2"	"OMIM:611105"	"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-15 13:29:55"	""	""	""	"PMID: 28106320"	"77874"	"2020-12-24"
"GENCC_000101-HGNC_25784-OMIM_241080-HP_0000007-GENCC_100002"	"HGNC:25784"	"DCAF17"	"MONDO:0009419"	"Woodhouse-Sakati syndrome"	"OMIM:241080"	"Woodhouse-Sakati syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25784"	"DCAF17"	"OMIM:241080"	"Woodhouse-Sakati syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-16 13:29:55"	""	""	""	"PMID: 28106320"	"52214"	"2020-12-24"
"GENCC_000101-HGNC_18141-OMIM_616217-HP_0000007-GENCC_100002"	"HGNC:18141"	"DCDC2"	"MONDO:0014537"	"nephronophthisis 19"	"OMIM:616217"	"Nephronophthisis 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18141"	"DCDC2"	"OMIM:616217"	"Nephronophthisis 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-23 13:29:55"	""	""	""	"PMID: 28106320"	"78049"	"2020-12-24"
"GENCC_000101-HGNC_18141-OMIM_610212-HP_0000007-GENCC_100004"	"HGNC:18141"	"DCDC2"	"MONDO:0012442"	"autosomal recessive nonsyndromic hearing loss 66"	"OMIM:610212"	"?Deafness, autosomal recessive 66"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18141"	"DCDC2"	"OMIM:610212"	"Deafness, autosomal recessive 66"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-10-31 13:29:55"	""	""	""	"PMID: 28106320"	"78049"	"2020-12-24"
"GENCC_000101-HGNC_2731-OMIM_271665-HP_0000007-GENCC_100003"	"HGNC:2731"	"DDR2"	"MONDO:0010077"	"spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	"OMIM:271665"	"Spondylometaepiphyseal dysplasia, short limb-hand type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2731"	"DDR2"	"OMIM:271665"	"Spondylometaepiphyseal dysplasia, short limb-hand type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:55"	""	""	""	"PMID: 28106320"	"0368"	"2020-12-24"
"GENCC_000101-HGNC_2731-OMIM_618175-HP_0000006-GENCC_100004"	"HGNC:2731"	"DDR2"	"MONDO:0032579"	"warburg-cinotti syndrome"	"OMIM:618175"	"Warburg-Cinotti syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2731"	"DDR2"	"OMIM:618175"	"Warburg-Cinotti syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-09-09 13:29:55"	""	""	""	"PMID: 28106320"	"0368"	"2020-12-24"
"GENCC_000101-HGNC_2770-OMIM_601419-HP_0032113-GENCC_100001"	"HGNC:2770"	"DES"	"MONDO:0011076"	"myofibrillar myopathy 1"	"OMIM:601419"	"Myopathy, myofibrillar, 1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2770"	"DES"	"OMIM:601419"	"Myopathy, myofibrillar, 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-04 13:29:56"	""	""	""	"PMID: 28106320"	"8140"	"2020-12-24"
"GENCC_000101-HGNC_2770-OMIM_604765-HP_0000006-GENCC_100002"	"HGNC:2770"	"DES"	"MONDO:0011482"	"dilated cardiomyopathy 1I"	"OMIM:604765"	"Cardiomyopathy, dilated, 1I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2770"	"DES"	"OMIM:604765"	"Cardiomyopathy, dilated, 1I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-04 13:29:56"	""	""	""	"PMID: 28106320"	"8140"	"2020-12-24"
"GENCC_000101-HGNC_2858-OMIM_251880-HP_0000007-GENCC_100001"	"HGNC:2858"	"DGUOK"	"MONDO:0009636"	"mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"	"OMIM:251880"	"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2858"	"DGUOK"	"OMIM:251880"	"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:29:57"	""	""	""	"PMID: 28106320"	"8481"	"2020-12-24"
"GENCC_000101-HGNC_2858-OMIM_617068-HP_0000007-GENCC_100004"	"HGNC:2858"	"DGUOK"	"MONDO:0014897"	"portal hypertension, noncirrhotic"	"OMIM:617068"	"Portal hypertension, noncirrhotic, 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2858"	"DGUOK"	"OMIM:617068"	"Portal hypertension, noncirrhotic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:57"	""	""	""	"PMID: 28106320"	"8481"	"2020-12-24"
"GENCC_000101-HGNC_2861-OMIM_613839-HP_0000007-GENCC_100003"	"HGNC:2861"	"DHFR"	"MONDO:0013456"	"constitutional megaloblastic anemia with severe neurologic disease"	"OMIM:613839"	"Megaloblastic anemia due to dihydrofolate reductase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2861"	"DHFR"	"OMIM:613839"	"Megaloblastic anemia due to dihydrofolate reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:57"	""	""	""	"PMID: 28106320"	"8483"	"2020-12-24"
"GENCC_000101-HGNC_2932-OMIM_241520-HP_0000007-GENCC_100003"	"HGNC:2932"	"DMP1"	"MONDO:0009430"	"hypophosphatemic rickets, autosomal recessive, 1"	"OMIM:241520"	"Hypophosphatemic rickets, AR"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2932"	"DMP1"	"OMIM:241520"	"Hypophosphatemic rickets, AR"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:29:58"	""	""	""	"PMID: 28106320"	"8475"	"2020-12-24"
"GENCC_000101-HGNC_15469-OMIM_615528-HP_0000007-GENCC_100004"	"HGNC:15469"	"DNAJC6"	"MONDO:0014231"	"juvenile onset Parkinson disease 19A"	"OMIM:615528"	"Parkinson disease 19b, early-onset"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15469"	"DNAJC6"	"OMIM:615528"	"Parkinson disease 19b, early-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:29:58"	""	""	""	"PMID: 28106320"	"3563"	"2020-12-24"
"GENCC_000101-HGNC_2959-OMIM_614420-HP_0000007-GENCC_100003"	"HGNC:2959"	"DNASE1L3"	"MONDO:0013743"	"autosomal systemic lupus erythematosus type 16"	"OMIM:614420"	"Systemic lupus erythematosus 16"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2959"	"DNASE1L3"	"OMIM:614420"	"Systemic lupus erythematosus 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-15 13:29:58"	""	""	""	"PMID: 28106320"	"8441"	"2020-12-24"
"GENCC_000101-HGNC_2978-OMIM_618724-HP_0000006-GENCC_100003"	"HGNC:2978"	"DNMT3A"	"MONDO:0032882"	"Heyn-Sproul-Jackson syndrome"	"OMIM:618724"	"Heyn-Sproul-Jackson syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2978"	"DNMT3A"	"OMIM:618724"	"Heyn-Sproul-Jackson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-28 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14094"	"2024-01-02"
"GENCC_000101-HGNC_2978-OMIM_615879-HP_0000006-GENCC_100001"	"HGNC:2978"	"DNMT3A"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"OMIM:615879"	"Tatton-Brown-Rahman syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2978"	"DNMT3A"	"OMIM:615879"	"Tatton-Brown-Rahman syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-07-28 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78009"	"2024-01-02"
"GENCC_000101-HGNC_26594-OMIM_618389-HP_0000007-GENCC_100004"	"HGNC:26594"	"DOK7"	"MONDO:0100103"	"fetal akinesia deformation sequence 3"	"OMIM:618389"	"Fetal akinesia deformation sequence 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26594"	"DOK7"	"OMIM:618389"	"Fetal akinesia deformation sequence 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:00"	""	""	""	"PMID: 28106320"	"657053"	"2020-12-24"
"GENCC_000101-HGNC_26594-OMIM_254300-HP_0000007-GENCC_100001"	"HGNC:26594"	"DOK7"	"MONDO:0009690"	"congenital myasthenic syndrome 10"	"OMIM:254300"	"Myasthenic syndrome, congenital, 10"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26594"	"DOK7"	"OMIM:254300"	"Myasthenic syndrome, congenital, 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-06-16 00:00:00"	""	""	""	"PMID: 28106320"	"657053"	"2020-12-24"
"GENCC_000101-HGNC_3052-OMIM_609638-HP_0000007-GENCC_100003"	"HGNC:3052"	"DSP"	"MONDO:0012323"	"lethal acantholytic epidermolysis bullosa"	"OMIM:609638"	"Epidermolysis bullosa, lethal acantholytic"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3052"	"DSP"	"OMIM:609638"	"Epidermolysis bullosa, lethal acantholytic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-09-04 13:30:00"	""	""	""	"PMID: 28106320"	"8596"	"2020-12-24"
"GENCC_000101-HGNC_1090-OMIM_614653-HP_0000007-GENCC_100003"	"HGNC:1090"	"DST"	"MONDO:0013839"	"hereditary sensory and autonomic neuropathy type 6"	"OMIM:614653"	"Neuropathy, hereditary sensory and autonomic, type VI"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1090"	"DST"	"OMIM:614653"	"Neuropathy, hereditary sensory and autonomic, type VI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-15 13:30:01"	""	""	""	"PMID: 28106320"	"114"	"2020-12-24"
"GENCC_000101-HGNC_1090-OMIM_615425-HP_0000007-GENCC_100003"	"HGNC:1090"	"DST"	"MONDO:0014180"	"epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"	"OMIM:615425"	"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1090"	"DST"	"OMIM:615425"	"Epidermolysis bullosa simplex, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-05-06 00:00:00"	""	""	""	"PMID: 28106320"	"114"	"2020-12-24"
"GENCC_000101-HGNC_29043-OMIM_610805-HP_0000007-GENCC_100004"	"HGNC:29043"	"DSTYK"	"MONDO:0012561"	"congenital anomalies of kidney and urinary tract 1"	"OMIM:610805"	"Congenital anomalies of kidney and urinary tract 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29043"	"DSTYK"	"OMIM:610805"	"Congenital anomalies of kidney and urinary tract 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:01"	""	""	""	"PMID: 28106320"	"67445"	"2020-12-24"
"GENCC_000101-HGNC_2964-OMIM_618492-HP_0000007-GENCC_100004"	"HGNC:2964"	"DYNC1I2"	"MONDO:0032779"	"neurodevelopmental disorder with microcephaly and structural brain anomalies"	"OMIM:618492"	"Neurodevelopmental disorder with microcephaly and structural brain anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2964"	"DYNC1I2"	"OMIM:618492"	"Neurodevelopmental disorder with microcephaly and structural brain anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-15 13:30:01"	""	""	""	"PMID: 28106320"	"8458"	"2020-12-24"
"GENCC_000101-HGNC_3147-OMIM_615065-HP_0000007-GENCC_100002"	"HGNC:3147"	"ECEL1"	"MONDO:0014028"	"distal arthrogryposis type 5D"	"OMIM:615065"	"Arthrogryposis, distal, type 5D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3147"	"ECEL1"	"OMIM:615065"	"Arthrogryposis, distal, type 5D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-23 13:30:01"	""	""	""	"PMID: 28106320"	"3064"	"2020-12-24"
"GENCC_000101-HGNC_14341-OMIM_614940-HP_0032113-GENCC_100003"	"HGNC:14341"	"EDARADD"	"MONDO:0013982"	"ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"OMIM:614940"	"Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14341"	"EDARADD"	"OMIM:614940"	"Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:01"	""	""	""	"PMID: 28106320"	"865845"	"2020-12-24"
"GENCC_000101-HGNC_3179-OMIM_616367-HP_0000006-GENCC_100003"	"HGNC:3179"	"EDNRA"	"MONDO:0014608"	"mandibulofacial dysostosis with alopecia"	"OMIM:616367"	"Mandibulofacial dysostosis with alopecia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3179"	"EDNRA"	"OMIM:616367"	"Mandibulofacial dysostosis with alopecia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-03-12 00:00:00"	""	""	""	"PMID: 28106320"	"8323"	"2020-12-24"
"GENCC_000101-HGNC_3218-OMIM_126600-HP_0000006-GENCC_100002"	"HGNC:3218"	"EFEMP1"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"OMIM:126600"	"Doyne honeycomb degeneration of retina"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3218"	"EFEMP1"	"OMIM:126600"	"Doyne honeycomb degeneration of retina"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-12-11 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63382"	"2025-01-17"
"GENCC_000101-HGNC_3218-OMIM_126600-HP_0000007-GENCC_100004"	"HGNC:3218"	"EFEMP1"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"OMIM:126600"	"Doyne honeycomb degeneration of retina"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3218"	"EFEMP1"	"OMIM:126600"	"Doyne honeycomb degeneration of retina"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-06 13:30:02"	""	""	""	"PMID: 28106320"	"6626"	"2020-12-24"
"GENCC_000101-HGNC_3229-OMIM_611718-HP_0000006-GENCC_100004"	"HGNC:3229"	"EGF"	"MONDO:0012717"	"renal hypomagnesemia 4"	"OMIM:611718"	"?Hypomagnesemia 4, renal"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3229"	"EGF"	"OMIM:611718"	"Hypomagnesemia 4, renal"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:03"	""	""	""	"PMID: 28106320"	"8372"	"2020-12-24"
"GENCC_000101-HGNC_9437-OMIM_618877-HP_0000006-GENCC_100003"	"HGNC:9437"	"EIF2AK2"	"MONDO:0030035"	"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"OMIM:618877"	"Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9437"	"EIF2AK2"	"OMIM:618877"	"Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-05 13:30:03"	""	""	""	"PMID: 28106320"	"7182"	"2020-12-24"
"GENCC_000101-HGNC_3255-OMIM_226980-HP_0000007-GENCC_100001"	"HGNC:3255"	"EIF2AK3"	"MONDO:0009192"	"Wolcott-Rallison syndrome"	"OMIM:226980"	"Wolcott-Rallison syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3255"	"EIF2AK3"	"OMIM:226980"	"Wolcott-Rallison syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-06 13:30:03"	""	""	""	"PMID: 28106320"	"3078"	"2020-12-24"
"GENCC_000101-HGNC_3296-OMIM_614251-HP_0000005-GENCC_100005"	"HGNC:3296"	"EIF4G1"	"MONDO:0013653"	"Parkinson disease 18, autosomal dominant, susceptibility to"	"OMIM:614251"	"{Parkinson disease 18}"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3296"	"EIF4G1"	"OMIM:614251"	"Parkinson disease 18"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2019-05-30 13:30:04"	""	""	""	"PMID: 28106320"	"8358"	"2020-12-24"
"GENCC_000101-HGNC_14418-OMIM_618527-HP_0000006-GENCC_100004"	"HGNC:14418"	"ELOVL1"	"MONDO:0032798"	"ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features"	"OMIM:618527"	"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14418"	"ELOVL1"	"OMIM:618527"	"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-05 13:30:04"	""	""	""	"PMID: 28106320"	"10590"	"2020-12-24"
"GENCC_000101-HGNC_21308-OMIM_615957-HP_0000006-GENCC_100003"	"HGNC:21308"	"ELOVL5"	"MONDO:0014417"	"spinocerebellar ataxia type 38"	"OMIM:615957"	"Spinocerebellar ataxia 38"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21308"	"ELOVL5"	"OMIM:615957"	"Spinocerebellar ataxia 38"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-23 13:30:05"	""	""	""	"PMID: 28106320"	"12058"	"2020-12-24"
"GENCC_000101-HGNC_3344-OMIM_104500-HP_0032113-GENCC_100002"	"HGNC:3344"	"ENAM"	"MONDO:0007092"	"amelogenesis imperfecta type 1B"	"OMIM:104500"	"Amelogenesis imperfecta, type IB"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3344"	"ENAM"	"OMIM:104500"	"Amelogenesis imperfecta, type IB"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-28 13:30:05"	""	""	""	"PMID: 28106320"	"82884"	"2020-12-24"
"GENCC_000101-HGNC_28526-OMIM_615297-HP_0000007-GENCC_100003"	"HGNC:28526"	"EOGT"	"MONDO:0014124"	"Adams-Oliver syndrome 4"	"OMIM:615297"	"Adams-Oliver syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28526"	"EOGT"	"OMIM:615297"	"Adams-Oliver syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:30:06"	""	""	""	"PMID: 28106320"	"657629"	"2020-12-24"
"GENCC_000101-HGNC_11529-OMIM_613244-HP_0000006-GENCC_100001"	"HGNC:11529"	"EPCAM"	"MONDO:0013196"	"Lynch syndrome 8"	"OMIM:613244"	"Lynch syndrome 8"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11529"	"EPCAM"	"OMIM:613244"	"Colorectal cancer, hereditary nonpolyposis, type 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2019-08-07 13:30:06"	""	""	""	"PMID: 28106320"	"0246"	"2020-12-24"
"GENCC_000101-HGNC_11529-OMIM_613217-HP_0000007-GENCC_100001"	"HGNC:11529"	"EPCAM"	"MONDO:0013184"	"congenital diarrhea 5 with tufting enteropathy"	"OMIM:613217"	"Diarrhea 5, with tufting enteropathy, congenital"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11529"	"EPCAM"	"OMIM:613217"	"Diarrhea 5, with tufting enteropathy, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-07-17 00:00:00"	""	""	""	"PMID: 28106320"	"0246"	"2020-12-24"
"GENCC_000101-HGNC_13281-OMIM_609006-HP_0000007-GENCC_100003"	"HGNC:13281"	"ESPN"	"MONDO:0012170"	"autosomal recessive nonsyndromic hearing loss 36"	"OMIM:609006"	"Deafness, autosomal recessive 36"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13281"	"ESPN"	"OMIM:609006"	"Deafness, autosomal recessive 36"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17746"	"2023-08-19"
"GENCC_000101-HGNC_3483-OMIM_231680-HP_0000007-GENCC_100001"	"HGNC:3483"	"ETFDH"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"OMIM:231680"	"Glutaric acidemia IIB"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3483"	"ETFDH"	"OMIM:231680"	"Glutaric acidemia IIC"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-17 13:30:07"	""	""	""	"PMID: 28106320"	"6882"	"2020-12-24"
"GENCC_000101-HGNC_19747-OMIM_225500-HP_0000007-GENCC_100001"	"HGNC:19747"	"EVC2"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"OMIM:225500"	"Ellis-van Creveld syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19747"	"EVC2"	"OMIM:225500"	"Ellis-van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-10-30 00:00:00"	""	""	""	"PMID: 28106320"	"896550"	"2020-12-24"
"GENCC_000101-HGNC_19747-OMIM_193530-HP_0000006-GENCC_100002"	"HGNC:19747"	"EVC2"	"MONDO:0008673"	"acrofacial dysostosis, Weyers type"	"OMIM:193530"	"?Weyers acrofacial dysostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19747"	"EVC2"	"OMIM:193530"	"Weyers acrofacial dysostosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:30:07"	""	""	""	"PMID: 28106320"	"896550"	"2020-12-24"
"GENCC_000101-HGNC_9137-OMIM_618065-HP_0000007-GENCC_100003"	"HGNC:9137"	"EXOSC9"	"MONDO:0054844"	"pontocerebellar hypoplasia, type 1D"	"OMIM:618065"	"Pontocerebellar hypoplasia, type 1D"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9137"	"EXOSC9"	"OMIM:618065"	"Pontocerebellar hypoplasia, type 1D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:30:08"	""	""	""	"PMID: 28106320"	"7939"	"2020-12-24"
"GENCC_000101-HGNC_3585-OMIM_227646-HP_0000007-GENCC_100001"	"HGNC:3585"	"FANCD2"	"MONDO:0009214"	"Fanconi anemia complementation group D2"	"OMIM:227646"	"Fanconi anemia, complementation group D2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3585"	"FANCD2"	"OMIM:227646"	"Fanconi anemia, complementation group D2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-08-08 00:00:00"	""	""	""	"PMID: 28106320"	"6844"	"2020-12-24"
"GENCC_000101-HGNC_21062-OMIM_614946-HP_0000007-GENCC_100003"	"HGNC:21062"	"FARS2"	"MONDO:0013986"	"combined oxidative phosphorylation defect type 14"	"OMIM:614946"	"Combined oxidative phosphorylation deficiency 14"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21062"	"FARS2"	"OMIM:614946"	"Combined oxidative phosphorylation deficiency 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:09"	""	""	""	"PMID: 28106320"	"82114"	"2020-12-24"
"GENCC_000101-HGNC_21062-OMIM_617046-HP_0000007-GENCC_100004"	"HGNC:21062"	"FARS2"	"MONDO:0014882"	"hereditary spastic paraplegia 77"	"OMIM:617046"	"Spastic paraplegia 77, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21062"	"FARS2"	"OMIM:617046"	"Spastic paraplegia 77, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:30:09"	""	""	""	"PMID: 28106320"	"82114"	"2020-12-24"
"GENCC_000101-HGNC_17800-OMIM_613658-HP_0000007-GENCC_100003"	"HGNC:17800"	"FARSB"	"MONDO:0100215"	"Rajab interstitial lung disease with brain calcifications 1"	"OMIM:613658"	"Rajab interstitial lung disease with brain calcifications 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17800"	"FARSB"	"OMIM:613658"	"Rajab interstitial lung disease with brain calcifications 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-09 13:30:09"	""	""	""	"PMID: 28106320"	"82271"	"2020-12-24"
"GENCC_000101-HGNC_11936-OMIM_601859-HP_0000007-GENCC_100004"	"HGNC:11936"	"FASLG"	"MONDO:0011158"	"autoimmune lymphoproliferative syndrome type 1"	"OMIM:601859"	"{Autoimmune lymphoproliferative syndrome}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11936"	"FASLG"	"OMIM:601859"	"Autoimmune lymphoproliferative syndrome, type IB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92564"	"2023-08-19"
"GENCC_000101-HGNC_29160-OMIM_618855-HP_0000007-GENCC_100003"	"HGNC:29160"	"FASTKD2"	"MONDO:0030020"	"combined oxidative phosphorylation deficiency 44"	"OMIM:618855"	"Combined oxidative phosphorylation deficiency 44"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29160"	"FASTKD2"	"OMIM:618855"	"Combined oxidative phosphorylation deficiency 44"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-19 13:30:10"	""	""	""	"PMID: 28106320"	"66515"	"2020-12-24"
"GENCC_000101-HGNC_13590-OMIM_618089-HP_0000006-GENCC_100001"	"HGNC:13590"	"FBXO11"	"MONDO:0060760"	"intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"OMIM:618089"	"Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13590"	"FBXO11"	"OMIM:618089"	"Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-01 13:30:11"	""	""	""	"PMID: 28106320"	"52620"	"2020-12-24"
"GENCC_000101-HGNC_13607-OMIM_618914-HP_0000006-GENCC_100004"	"HGNC:13607"	"FBXW11"	"MONDO:0030057"	"neurodevelopmental, jaw, eye, and digital syndrome"	"OMIM:618914"	"Neurodevelopmental, jaw, eye, and digital syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13607"	"FBXW11"	"OMIM:618914"	"Neurodevelopmental, jaw, eye, and digital syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-08-27 13:30:11"	""	""	""	"PMID: 28106320"	"69638"	"2020-12-24"
"GENCC_000101-HGNC_3625-OMIM_613860-HP_0000007-GENCC_100004"	"HGNC:3625"	"FCN3"	"MONDO:0013467"	"immunodeficiency due to ficolin3 deficiency"	"OMIM:613860"	"Immunodeficiency due to ficolin 3 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3625"	"FCN3"	"OMIM:613860"	"Immunodeficiency due to ficolin 3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:12"	""	""	""	"PMID: 28106320"	"5704"	"2020-12-24"
"GENCC_000101-HGNC_3661-OMIM_616004-HP_0000006-GENCC_100001"	"HGNC:3661"	"FGA"	"MONDO:0014452"	"familial dysfibrinogenemia"	"OMIM:616004"	"Hypodysfibrinogenemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3661"	"FGA"	"OMIM:616004"	"Dysfibrinogenemia, congenital"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:30:12"	""	""	""	"PMID: 28106320"	"6609"	"2020-12-24"
"GENCC_000101-HGNC_3661-OMIM_202400-HP_0000007-GENCC_100001"	"HGNC:3661"	"FGA"	"MONDO:0008737"	"congenital afibrinogenemia"	"OMIM:202400"	"Afibrinogenemia, congenital"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3661"	"FGA"	"OMIM:202400"	"Afibrinogenemia, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-23 13:30:13"	""	""	""	"PMID: 28106320"	"6609"	"2020-12-24"
"GENCC_000101-HGNC_3661-OMIM_105200-HP_0000006-GENCC_100003"	"HGNC:3661"	"FGA"	"MONDO:0007099"	"familial visceral amyloidosis"	"OMIM:105200"	"Amyloidosis, hereditary systemic 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3661"	"FGA"	"OMIM:105200"	"Amyloidosis, familial visceral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:30:13"	""	""	""	"PMID: 28106320"	"6609"	"2020-12-24"
"GENCC_000101-HGNC_3668-OMIM_617166-HP_0000006-GENCC_100003"	"HGNC:3668"	"FGF12"	"MONDO:0014949"	"developmental and epileptic encephalopathy, 47"	"OMIM:617166"	"Developmental and epileptic encephalopathy 47"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3668"	"FGF12"	"OMIM:617166"	"Developmental and epileptic encephalopathy 47"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-05-24 00:00:00"	""	""	""	"PMID: 28106320"	"6674"	"2020-12-24"
"GENCC_000101-HGNC_3690-OMIM_100800-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0007037"	"achondroplasia"	"OMIM:100800"	"Achondroplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3690"	"FGFR3"	"OMIM:100800"	"Achondroplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-20 00:00:00"	""	""	""	"PMID: 28106320"	"6618"	"2020-12-24"
"GENCC_000101-HGNC_3690-OMIM_610474-HP_0000007-GENCC_100003"	"HGNC:3690"	"FGFR3"	"MONDO:0012504"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"OMIM:610474"	"CATSHL syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3690"	"FGFR3"	"OMIM:610474"	"CATSHL syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:30:13"	""	""	""	"PMID: 28106320"	"6618"	"2020-12-24"
"GENCC_000101-HGNC_3690-OMIM_612247-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0012833"	"Crouzon syndrome-acanthosis nigricans syndrome"	"OMIM:612247"	"Crouzon syndrome with acanthosis nigricans"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3690"	"FGFR3"	"OMIM:612247"	"Crouzon syndrome with acanthosis nigricans"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-20 00:00:00"	""	""	""	"PMID: 28106320"	"6618"	"2020-12-24"
"GENCC_000101-HGNC_3690-OMIM_146000-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0007793"	"hypochondroplasia"	"OMIM:146000"	"Hypochondroplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3690"	"FGFR3"	"OMIM:146000"	"Hypochondroplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2015-08-20 00:00:00"	""	""	""	"PMID: 28106320"	"6618"	"2020-12-24"
"GENCC_000101-HGNC_3690-OMIM_602849-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0011274"	"Muenke syndrome"	"OMIM:602849"	"Muenke syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3690"	"FGFR3"	"OMIM:602849"	"Muenke syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-20 00:00:00"	""	""	""	"PMID: 28106320"	"6618"	"2020-12-24"
"GENCC_000101-HGNC_3690-OMIM_187600-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0008546"	"thanatophoric dysplasia type 1"	"OMIM:187600"	"Thanatophoric dysplasia, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3690"	"FGFR3"	"OMIM:187600"	"Thanatophoric dysplasia, type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2015-08-20 00:00:00"	""	""	""	"PMID: 28106320"	"6618"	"2020-12-24"
"GENCC_000101-HGNC_3700-OMIM_150800-HP_0000006-GENCC_100001"	"HGNC:3700"	"FH"	"MONDO:0007888"	"hereditary leiomyomatosis and renal cell cancer"	"OMIM:150800"	"Leiomyomatosis and renal cell cancer"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3700"	"FH"	"OMIM:150800"	"Leiomyomatosis and renal cell cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2019-02-27 13:30:14"	""	""	""	"PMID: 28106320"	"6648"	"2020-12-24"
"GENCC_000101-HGNC_3700-OMIM_606812-HP_0000007-GENCC_100002"	"HGNC:3700"	"FH"	"MONDO:0011730"	"fumaric aciduria"	"OMIM:606812"	"Fumarase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3700"	"FH"	"OMIM:606812"	"Fumarase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:30:14"	""	""	""	"PMID: 28106320"	"6648"	"2020-12-24"
"GENCC_000101-HGNC_24669-OMIM_612310-HP_0000006-GENCC_100003"	"HGNC:24669"	"FIGLA"	"MONDO:0012861"	"premature ovarian failure 6"	"OMIM:612310"	"Premature ovarian failure 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24669"	"FIGLA"	"OMIM:612310"	"Premature ovarian failure 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:30:14"	""	""	""	"PMID: 28106320"	"900285"	"2020-12-24"
"GENCC_000101-HGNC_24671-OMIM_255100-HP_0000007-GENCC_100003"	"HGNC:24671"	"FLAD1"	"MONDO:0009703"	"myopathy with abnormal lipid metabolism"	"OMIM:255100"	"Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24671"	"FLAD1"	"OMIM:255100"	"Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-02 13:30:14"	""	""	""	"PMID: 28106320"	"52925"	"2020-12-24"
"GENCC_000101-HGNC_3767-OMIM_153100-HP_0000006-GENCC_100001"	"HGNC:3767"	"FLT4"	"MONDO:0007919"	"lymphatic malformation 1"	"OMIM:153100"	"Lymphatic malformation 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3767"	"FLT4"	"OMIM:153100"	"Lymphatic malformation 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-12-27 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78193"	"2025-01-17"
"GENCC_000101-HGNC_14074-OMIM_616193-HP_0000007-GENCC_100002"	"HGNC:14074"	"FMN2"	"MONDO:0014524"	"intellectual disability, autosomal recessive 47"	"OMIM:616193"	"Intellectual developmental disorder, autosomal recessive 47"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14074"	"FMN2"	"OMIM:616193"	"Mental retardation, autosomal recessive 47"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-13 13:30:15"	""	""	""	"PMID: 28106320"	"71441"	"2020-12-24"
"GENCC_000101-HGNC_3778-OMIM_184255-HP_0000006-GENCC_100002"	"HGNC:3778"	"FN1"	"MONDO:0008479"	"spondylometaphyseal dysplasia, 'corner fracture' type"	"OMIM:184255"	"Spondylometaphyseal dysplasia, corner fracture type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3778"	"FN1"	"OMIM:184255"	"Spondylometaphyseal dysplasia, corner fracture type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-01-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11969"	"2023-08-19"
"GENCC_000101-HGNC_1092-OMIM_110100-HP_0000006-GENCC_100001"	"HGNC:1092"	"FOXL2"	"MONDO:0007201"	"blepharophimosis, ptosis, and epicanthus inversus syndrome"	"OMIM:110100"	"Blepharophimosis, epicanthus inversus, and ptosis, type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1092"	"FOXL2"	"OMIM:110100"	"Blepharophimosis, epicanthus inversus, and ptosis, type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-31 13:30:15"	""	""	""	"PMID: 28106320"	"115"	"2020-12-24"
"GENCC_000101-HGNC_3823-OMIM_613670-HP_0000006-GENCC_100003"	"HGNC:3823"	"FOXP1"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"OMIM:613670"	"Intellectual developmental disorder with language impairment with or without autistic features"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3823"	"FOXP1"	"OMIM:613670"	"Mental retardation with language impairment and with or without autistic features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-23 13:30:15"	""	""	""	"PMID: 28106320"	"64251"	"2020-12-24"
"GENCC_000101-HGNC_4006-OMIM_230000-HP_0000007-GENCC_100001"	"HGNC:4006"	"FUCA1"	"MONDO:0009254"	"fucosidosis"	"OMIM:230000"	"Fucosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4006"	"FUCA1"	"OMIM:230000"	"Fucosidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:30:16"	""	""	""	"PMID: 28106320"	"6784"	"2020-12-24"
"GENCC_000101-HGNC_4023-OMIM_618823-HP_0000007-GENCC_100004"	"HGNC:4023"	"FXR1"	"MONDO:0032937"	"myopathy, congenital proximal, with minicore lesions"	"OMIM:618823"	"Congenital myopathy 9B, proximal, with minicore lesions"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4023"	"FXR1"	"OMIM:618823"	"Myopathy, congenital proximal, with minicore lesions"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-11-13 13:30:16"	""	""	""	"PMID: 28106320"	"5254"	"2020-12-24"
"GENCC_000101-HGNC_4075-OMIM_615744-HP_0000006-GENCC_100001"	"HGNC:4075"	"GABRA1"	"MONDO:0014328"	"developmental and epileptic encephalopathy, 19"	"OMIM:615744"	"Developmental and epileptic encephalopathy 19"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4075"	"GABRA1"	"OMIM:615744"	"Developmental and epileptic encephalopathy 19"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-03-26 13:30:16"	""	""	""	"PMID: 28106320"	"6770"	"2020-12-24"
"GENCC_000101-HGNC_4076-OMIM_618557-HP_0000006-GENCC_100003"	"HGNC:4076"	"GABRA2"	"MONDO:0032812"	"developmental and epileptic encephalopathy, 78"	"OMIM:618557"	"Developmental and epileptic encephalopathy 78"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4076"	"GABRA2"	"OMIM:618557"	"Epileptic encephalopathy, early infantile, 78"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-30 13:30:16"	""	""	""	"PMID: 28106320"	"6777"	"2020-12-24"
"GENCC_000101-HGNC_4081-OMIM_617153-HP_0000006-GENCC_100003"	"HGNC:4081"	"GABRB1"	"MONDO:0014942"	"developmental and epileptic encephalopathy, 45"	"OMIM:617153"	"Developmental and epileptic encephalopathy 45"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4081"	"GABRB1"	"OMIM:617153"	"Developmental and epileptic encephalopathy 45"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-31 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11756"	"2025-01-17"
"GENCC_000101-HGNC_4084-OMIM_613060-HP_0000006-GENCC_100004"	"HGNC:4084"	"GABRD"	"MONDO:0013103"	"epilepsy, idiopathic generalized, susceptibility to, 10"	"OMIM:613060"	"{?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4084"	"GABRD"	"OMIM:613060"	"Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-11 13:30:17"	""	""	""	"PMID: 28106320"	"6719"	"2020-12-24"
"GENCC_000101-HGNC_4087-OMIM_607681-HP_0000006-GENCC_100002"	"HGNC:4087"	"GABRG2"	"MONDO:0011891"	"febrile seizures, familial, 8"	"OMIM:607681"	"Generalized epilepsy with febrile seizures plus, type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4087"	"GABRG2"	"OMIM:607681"	"Epilepsy, generalized, with febrile seizures plus, type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-19 13:30:17"	""	""	""	"PMID: 28106320"	"6711"	"2020-12-24"
"GENCC_000101-HGNC_4092-OMIM_603513-HP_0000007-GENCC_100004"	"HGNC:4092"	"GAD1"	"MONDO:0011329"	"cerebral palsy, spastic quadriplegic, 1"	"OMIM:603513"	"OMIM:603513"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4092"	"GAD1"	"OMIM:603513"	"Cerebral palsy, spastic quadriplegic, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-21 13:30:17"	""	""	""	"PMID: 28106320"	"6748"	"2020-12-24"
"GENCC_000101-HGNC_4116-OMIM_230350-HP_0000007-GENCC_100002"	"HGNC:4116"	"GALE"	"MONDO:0009257"	"galactose epimerase deficiency"	"OMIM:230350"	"Galactose epimerase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4116"	"GALE"	"OMIM:230350"	"Galactose epimerase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-18 13:30:17"	""	""	""	"PMID: 28106320"	"6756"	"2020-12-24"
"GENCC_000101-HGNC_4124-OMIM_618885-HP_0000007-GENCC_100002"	"HGNC:4124"	"GALNT2"	"MONDO:0030043"	"congenital disorder of glycosylation, type iit"	"OMIM:618885"	"Congenital disorder of glycosylation, type IIt"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4124"	"GALNT2"	"OMIM:618885"	"Congenital disorder of glycosylation, type IIt"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-04-30 13:30:17"	""	""	""	"PMID: 28106320"	"6732"	"2020-12-24"
"GENCC_000101-HGNC_4180-OMIM_232500-HP_0000007-GENCC_100001"	"HGNC:4180"	"GBE1"	"MONDO:0009292"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"OMIM:232500"	"Glycogen storage disease IV"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4180"	"GBE1"	"OMIM:232500"	"Glycogen storage disease IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-05 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63427"	"2025-01-17"
"GENCC_000101-HGNC_4180-OMIM_263570-HP_0000007-GENCC_100003"	"HGNC:4180"	"GBE1"	"MONDO:0009897"	"adult polyglucosan body disease"	"OMIM:263570"	"Polyglucosan body disease, adult form"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4180"	"GBE1"	"OMIM:263570"	"Polyglucosan body disease, adult form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-05 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63421"	"2025-01-17"
"GENCC_000101-HGNC_4311-OMIM_230450-HP_0000007-GENCC_100003"	"HGNC:4311"	"GCLC"	"MONDO:0009259"	"gamma-glutamylcysteine synthetase deficiency"	"OMIM:230450"	"Anemia, congenital, nonspherocytic hemolytic, 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4311"	"GCLC"	"OMIM:230450"	"Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:19"	""	""	""	"PMID: 28106320"	"6463"	"2020-12-24"
"GENCC_000101-HGNC_4204-OMIM_116700-HP_0000007-GENCC_100003"	"HGNC:4204"	"GCNT2"	"MONDO:0007289"	"cataract 13 with adult I phenotype"	"OMIM:116700"	"Cataract 13 with adult i phenotype"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4204"	"GCNT2"	"OMIM:116700"	"Cataract 13 with adult i phenotype"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-20 13:30:19"	""	""	""	"PMID: 28106320"	"6178"	"2020-12-24"
"GENCC_000101-HGNC_29682-OMIM_618397-HP_0000007-GENCC_100003"	"HGNC:29682"	"GFM2"	"MONDO:0032726"	"combined oxidative phosphorylation deficiency 39"	"OMIM:618397"	"Combined oxidative phosphorylation deficiency 39"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29682"	"GFM2"	"OMIM:618397"	"Combined oxidative phosphorylation deficiency 39"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-06 13:30:20"	""	""	""	"PMID: 28106320"	"50902"	"2020-12-24"
"GENCC_000101-HGNC_4241-OMIM_610542-HP_0000007-GENCC_100003"	"HGNC:4241"	"GFPT1"	"MONDO:0012518"	"congenital myasthenic syndrome 12"	"OMIM:610542"	"Myasthenia, congenital, 12, with tubular aggregates"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4241"	"GFPT1"	"OMIM:610542"	"Myasthenia, congenital, 12, with tubular aggregates"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-07 13:30:20"	""	""	""	"PMID: 28106320"	"6149"	"2020-12-24"
"GENCC_000101-HGNC_4247-OMIM_610842-HP_0000007-GENCC_100003"	"HGNC:4247"	"GGCX"	"MONDO:0012570"	"body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"	"OMIM:610842"	"Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4247"	"GGCX"	"OMIM:610842"	"Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-15 13:30:20"	""	""	""	"PMID: 28106320"	"6144"	"2020-12-24"
"GENCC_000101-HGNC_4247-OMIM_277450-HP_0000007-GENCC_100002"	"HGNC:4247"	"GGCX"	"MONDO:0010187"	"vitamin K-dependent clotting factors, combined deficiency of, type 1"	"OMIM:277450"	"Vitamin K-dependent clotting factors, combined deficiency of, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4247"	"GGCX"	"OMIM:277450"	"Vitamin K-dependent clotting factors, combined deficiency of, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-15 13:30:20"	""	""	""	"PMID: 28106320"	"6144"	"2020-12-24"
"GENCC_000101-HGNC_4267-OMIM_615925-HP_0032113-GENCC_100003"	"HGNC:4267"	"GHSR"	"MONDO:0014403"	"short stature due to GHSR deficiency"	"OMIM:615925"	"Growth hormone deficiency, isolated partial"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4267"	"GHSR"	"OMIM:615925"	"Growth hormone deficiency, isolated partial"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:21"	""	""	""	"PMID: 28106320"	"6139"	"2020-12-24"
"GENCC_000101-HGNC_11960-OMIM_607688-HP_0000006-GENCC_100004"	"HGNC:11960"	"GIGYF2"	"MONDO:0011896"	"Parkinson disease 11, autosomal dominant, susceptibility to"	"OMIM:607688"	"{Parkinson disease 11}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11960"	"GIGYF2"	"OMIM:607688"	"Parkinson disease 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:21"	""	""	""	"PMID: 28106320"	"61275"	"2020-12-24"
"GENCC_000101-HGNC_4279-OMIM_614049-HP_0000006-GENCC_100003"	"HGNC:4279"	"GJA5"	"MONDO:0013544"	"atrial fibrillation, familial, 11"	"OMIM:614049"	"Atrial fibrillation, familial, 11"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4279"	"GJA5"	"OMIM:614049"	"Atrial fibrillation, familial, 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:30:22"	""	""	""	"PMID: 28106320"	"6426"	"2020-12-24"
"GENCC_000101-HGNC_17494-OMIM_608804-HP_0000007-GENCC_100001"	"HGNC:17494"	"GJC2"	"MONDO:0012125"	"hypomyelinating leukodystrophy 2"	"OMIM:608804"	"Leukodystrophy, hypomyelinating, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17494"	"GJC2"	"OMIM:608804"	"Leukodystrophy, hypomyelinating, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-30 13:30:22"	""	""	""	"PMID: 28106320"	"74817"	"2020-12-24"
"GENCC_000101-HGNC_4318-OMIM_610829-HP_0000006-GENCC_100003"	"HGNC:4318"	"GLI2"	"MONDO:0012563"	"holoprosencephaly 9"	"OMIM:610829"	"Holoprosencephaly 9"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4318"	"GLI2"	"OMIM:610829"	"Holoprosencephaly 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 13:30:22"	""	""	""	"PMID: 28106320"	"6491"	"2020-12-24"
"GENCC_000101-HGNC_4318-OMIM_615849-HP_0000006-GENCC_100003"	"HGNC:4318"	"GLI2"	"MONDO:0014369"	"postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	"OMIM:615849"	"Culler-Jones syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4318"	"GLI2"	"OMIM:615849"	"Culler-Jones syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 13:30:23"	""	""	""	"PMID: 28106320"	"6491"	"2020-12-24"
"GENCC_000101-HGNC_4318-OMIM_615849-HP_0000006-GENCC_100004"	"HGNC:4318"	"GLI2"	"MONDO:0014369"	"postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	"OMIM:615849"	"Culler-Jones syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4318"	"GLI2"	"OMIM:615849"	"Medulloblastoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2016-01-08 00:00:00"	""	""	""	"PMID: 28106320"	"6491"	"2020-12-24"
"GENCC_000101-HGNC_4329-OMIM_614619-HP_0000007-GENCC_100002"	"HGNC:4329"	"GLRB"	"MONDO:0013828"	"hyperekplexia 2"	"OMIM:614619"	"Hyperekplexia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4329"	"GLRB"	"OMIM:614619"	"Hyperekplexia 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-26 13:30:24"	""	""	""	"PMID: 28106320"	"6409"	"2020-12-24"
"GENCC_000101-HGNC_4331-OMIM_618328-HP_0000007-GENCC_100004"	"HGNC:4331"	"GLS"	"MONDO:0032678"	"developmental and epileptic encephalopathy, 71"	"OMIM:618328"	"Developmental and epileptic encephalopathy 71"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4331"	"GLS"	"OMIM:618328"	"Epileptic encephalopathy, early infantile, 71"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-02 13:30:24"	""	""	""	"PMID: 28106320"	"6400"	"2020-12-24"
"GENCC_000101-HGNC_4341-OMIM_610015-HP_0000007-GENCC_100003"	"HGNC:4341"	"GLUL"	"MONDO:0012393"	"congenital brain dysgenesis due to glutamine synthetase deficiency"	"OMIM:610015"	"Glutamine deficiency, congenital"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4341"	"GLUL"	"OMIM:610015"	"Glutamine deficiency, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-23 13:30:24"	""	""	""	"PMID: 28106320"	"6476"	"2020-12-24"
"GENCC_000101-HGNC_4387-OMIM_602483-HP_0000006-GENCC_100003"	"HGNC:4387"	"GNAI3"	"MONDO:0011234"	"auriculocondylar syndrome 1"	"OMIM:602483"	"Auriculocondylar syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4387"	"GNAI3"	"OMIM:602483"	"Auriculocondylar syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-14 13:30:24"	""	""	""	"PMID: 28106320"	"6449"	"2020-12-24"
"GENCC_000101-HGNC_4394-OMIM_613856-HP_0000007-GENCC_100003"	"HGNC:4394"	"GNAT2"	"MONDO:0013465"	"achromatopsia 4"	"OMIM:613856"	"Achromatopsia 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4394"	"GNAT2"	"OMIM:613856"	"Achromatopsia 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:30:24"	""	""	""	"PMID: 28106320"	"6452"	"2020-12-24"
"GENCC_000101-HGNC_4396-OMIM_616973-HP_0000006-GENCC_100003"	"HGNC:4396"	"GNB1"	"MONDO:0014855"	"intellectual disability, autosomal dominant 42"	"OMIM:616973"	"Intellectual developmental disorder, autosomal dominant 42"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4396"	"GNB1"	"OMIM:616973"	"Mental retardation, autosomal dominant 42"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:25"	""	""	""	"PMID: 28106320"	"6456"	"2020-12-24"
"GENCC_000101-HGNC_25676-OMIM_231070-HP_0000007-GENCC_100003"	"HGNC:25676"	"GORAB"	"MONDO:0009271"	"geroderma osteodysplastica"	"OMIM:231070"	"Geroderma osteodysplasticum"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25676"	"GORAB"	"OMIM:231070"	"Geroderma osteodysplasticum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:25"	""	""	""	"PMID: 28106320"	"36900"	"2020-12-24"
"GENCC_000101-HGNC_29501-OMIM_604213-HP_0000007-GENCC_100003"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"OMIM:604213"	"Chudley-McCullough syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29501"	"GPSM2"	"OMIM:604213"	"Chudley-McCullough syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-02 13:30:25"	""	""	""	"PMID: 28106320"	"63533"	"2020-12-24"
"GENCC_000101-HGNC_4572-OMIM_618917-HP_0000006-GENCC_100001"	"HGNC:4572"	"GRIA2"	"MONDO:0030060"	"neurodevelopmental disorder with language impairment and behavioral abnormalities"	"OMIM:618917"	"Neurodevelopmental disorder with language impairment and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4572"	"GRIA2"	"OMIM:618917"	"Neurodevelopmental disorder with language impairment and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2019-07-24 13:30:25"	""	""	""	"PMID: 28106320"	"6538"	"2020-12-24"
"GENCC_000101-HGNC_4598-OMIM_257270-HP_0000007-GENCC_100001"	"HGNC:4598"	"GRM6"	"MONDO:0009758"	"congenital stationary night blindness 1B"	"OMIM:257270"	"Night blindness, congenital stationary (complete), 1B, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4598"	"GRM6"	"OMIM:257270"	"Night blindness, congenital stationary (complete), 1B, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-11 13:30:25"	""	""	""	"PMID: 28106320"	"6381"	"2020-12-24"
"GENCC_000101-HGNC_4599-OMIM_618922-HP_0000007-GENCC_100003"	"HGNC:4599"	"GRM7"	"MONDO:0030063"	"neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities"	"OMIM:618922"	"Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4599"	"GRM7"	"OMIM:618922"	"Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-23 13:30:26"	""	""	""	"PMID: 28106320"	"6384"	"2020-12-24"
"GENCC_000101-HGNC_31673-OMIM_613285-HP_0000007-GENCC_100003"	"HGNC:31673"	"GRXCR1"	"MONDO:0013210"	"autosomal recessive nonsyndromic hearing loss 25"	"OMIM:613285"	"Deafness, autosomal recessive 25"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31673"	"GRXCR1"	"OMIM:613285"	"Deafness, autosomal recessive 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:30:26"	""	""	""	"PMID: 28106320"	"953624"	"2020-12-24"
"GENCC_000101-HGNC_4670-OMIM_617988-HP_0000007-GENCC_100001"	"HGNC:4670"	"GTPBP2"	"MONDO:0060711"	"Jaberi-Elahi syndrome"	"OMIM:617988"	"Jaberi-Elahi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4670"	"GTPBP2"	"OMIM:617988"	"Jaberi-Elahi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-01-31 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11017"	"2025-01-17"
"GENCC_000101-HGNC_4679-OMIM_613827-HP_0000006-GENCC_100004"	"HGNC:4679"	"GUCA1B"	"MONDO:0013447"	"retinitis pigmentosa 48"	"OMIM:613827"	"Retinitis pigmentosa 48"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4679"	"GUCA1B"	"OMIM:613827"	"Retinitis pigmentosa 48"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:26"	""	""	""	"PMID: 28106320"	"6343"	"2020-12-24"
"GENCC_000101-HGNC_4699-OMIM_616199-HP_0000007-GENCC_100001"	"HGNC:4699"	"GYG1"	"MONDO:0014526"	"polyglucosan body myopathy type 2"	"OMIM:616199"	"Polyglucosan body myopathy 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4699"	"GYG1"	"OMIM:616199"	"Polyglucosan body myopathy 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-18 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78701"	"2023-08-19"
"GENCC_000101-HGNC_4795-OMIM_604931-HP_0000007-GENCC_100003"	"HGNC:4795"	"H6PD"	"MONDO:0011503"	"cortisone reductase deficiency 1"	"OMIM:604931"	"Cortisone reductase deficiency 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4795"	"H6PD"	"OMIM:604931"	"Cortisone reductase deficiency 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-31 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64856"	"2025-01-17"
"GENCC_000101-HGNC_4877-OMIM_182230-HP_0000006-GENCC_100002"	"HGNC:4877"	"HESX1"	"MONDO:0008428"	"septooptic dysplasia"	"OMIM:182230"	"Growth hormone deficiency with pituitary anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4877"	"HESX1"	"OMIM:182230"	"Septooptic dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:30:28"	""	""	""	"PMID: 28106320"	"5562"	"2020-12-24"
"GENCC_000101-HGNC_4879-OMIM_268800-HP_0000007-GENCC_100001"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"OMIM:268800"	"Sandhoff disease, infantile, juvenile, and adult forms"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4879"	"HEXB"	"OMIM:268800"	"Sandhoff disease, infantile, juvenile, and adult forms"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:30:28"	""	""	""	"PMID: 28106320"	"9240"	"2020-12-24"
"GENCC_000101-HGNC_4908-OMIM_250620-HP_0000007-GENCC_100002"	"HGNC:4908"	"HIBCH"	"MONDO:0009603"	"3-hydroxyisobutyryl-CoA hydrolase deficiency"	"OMIM:250620"	"3-hydroxyisobutryl-CoA hydrolase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4908"	"HIBCH"	"OMIM:250620"	"3-hydroxyisobutryl-CoA hydrolase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-09 13:30:28"	""	""	""	"PMID: 28106320"	"61647"	"2020-12-24"
"GENCC_000101-HGNC_4912-OMIM_137200-HP_0000007-GENCC_100002"	"HGNC:4912"	"HINT1"	"MONDO:0007646"	"Gamstorp-Wohlfart syndrome"	"OMIM:137200"	"Neuromyotonia and axonal neuropathy, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4912"	"HINT1"	"OMIM:137200"	"Neuromyotonia and axonal neuropathy, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-11-20 13:30:29"	""	""	""	"PMID: 28106320"	"9230"	"2020-12-24"
"GENCC_000101-HGNC_5028-OMIM_616739-HP_0000007-GENCC_100004"	"HGNC:5028"	"HNMT"	"MONDO:0014759"	"intellectual disability, autosomal recessive 51"	"OMIM:616739"	"Intellectual developmental disorder, autosomal recessive 51"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5028"	"HNMT"	"OMIM:616739"	"Mental retardation, autosomal recessive 51"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:30"	""	""	""	"PMID: 28106320"	"9841"	"2020-12-24"
"GENCC_000101-HGNC_5201-OMIM_614880-HP_0000006-GENCC_100004"	"HGNC:5201"	"HS6ST1"	"MONDO:0013946"	"hypogonadotropic hypogonadism 15 with or without anosmia"	"OMIM:614880"	"{Hypogonadotropic hypogonadism 15 with or without anosmia}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5201"	"HS6ST1"	"OMIM:614880"	"Hypogonadotropic hypogonadism 15 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-07 13:30:30"	""	""	""	"PMID: 28106320"	"3930"	"2020-12-24"
"GENCC_000101-HGNC_5213-OMIM_261515-HP_0000007-GENCC_100001"	"HGNC:5213"	"HSD17B4"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"OMIM:261515"	"D-bifunctional protein deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5213"	"HSD17B4"	"OMIM:261515"	"D-bifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-01-21 13:30:31"	""	""	""	"PMID: 28106320"	"9637"	"2020-12-24"
"GENCC_000101-HGNC_5244-OMIM_182170-HP_0000007-GENCC_100003"	"HGNC:5244"	"HSPA9"	"MONDO:0008422"	"autosomal dominant sideroblastic anemia"	"OMIM:182170"	"Anemia, sideroblastic, 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5244"	"HSPA9"	"OMIM:182170"	"Anemia, sideroblastic, 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-12 13:30:31"	""	""	""	"PMID: 28106320"	"9989"	"2020-12-24"
"GENCC_000101-HGNC_5244-OMIM_616854-HP_0000007-GENCC_100004"	"HGNC:5244"	"HSPA9"	"MONDO:0014801"	"even-plus syndrome"	"OMIM:616854"	"Even-plus syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5244"	"HSPA9"	"OMIM:616854"	"Even-plus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-12 13:30:31"	""	""	""	"PMID: 28106320"	"9989"	"2020-12-24"
"GENCC_000101-HGNC_5248-OMIM_613376-HP_0000006-GENCC_100004"	"HGNC:5248"	"HSPB3"	"MONDO:0013243"	"neuronopathy, distal hereditary motor, type 2C"	"OMIM:613376"	"?Neuronopathy, distal hereditary motor, autosomal dominant 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5248"	"HSPB3"	"OMIM:613376"	"Neuronopathy, distal hereditary motor, type IIC"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-11-20 13:30:32"	""	""	""	"PMID: 28106320"	"5355"	"2020-12-24"
"GENCC_000101-HGNC_5286-OMIM_614674-HP_0000006-GENCC_100004"	"HGNC:5286"	"HTR1A"	"MONDO:0044660"	"menstrual cycle-dependent periodic fever"	"OMIM:614674"	"?Periodic fever, menstrual cycle dependent"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5286"	"HTR1A"	"OMIM:614674"	"Periodic fever, menstrual cycle dependent"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-04 13:30:32"	""	""	""	"PMID: 28106320"	"9972"	"2020-12-24"
"GENCC_000101-HGNC_4851-OMIM_143100-HP_0000006-GENCC_100001"	"HGNC:4851"	"HTT"	"MONDO:0007739"	"Huntington disease"	"OMIM:143100"	"Huntington disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4851"	"HTT"	"OMIM:143100"	"Huntington disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-07-14 00:00:00"	""	""	""	"PMID: 28106320"	"9210"	"2020-12-24"
"GENCC_000101-HGNC_4851-OMIM_617435-HP_0000007-GENCC_100004"	"HGNC:4851"	"HTT"	"MONDO:0054573"	"Lopes-Maciel-Rodan syndrome"	"OMIM:617435"	"Lopes-Maciel-Rodan syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4851"	"HTT"	"OMIM:617435"	"Lopes-Maciel-Rodan syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-05 13:30:33"	""	""	""	"PMID: 28106320"	"9210"	"2020-12-24"
"GENCC_000101-HGNC_5320-OMIM_601492-HP_0000007-GENCC_100004"	"HGNC:5320"	"HYAL1"	"MONDO:0011093"	"mucopolysaccharidosis type 9"	"OMIM:601492"	"Mucopolysaccharidosis type IX"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5320"	"HYAL1"	"OMIM:601492"	"Mucopolysaccharidosis type IX"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-09 13:30:33"	""	""	""	"PMID: 28106320"	"9949"	"2020-12-24"
"GENCC_000101-HGNC_5351-OMIM_607594-HP_0000007-GENCC_100003"	"HGNC:5351"	"ICOS"	"MONDO:0011864"	"immunodeficiency, common variable, 1"	"OMIM:607594"	"Immunodeficiency, common variable, 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5351"	"ICOS"	"OMIM:607594"	"Immunodeficiency, common variable, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-14 13:30:34"	""	""	""	"PMID: 28106320"	"63578"	"2020-12-24"
"GENCC_000101-HGNC_30391-OMIM_615630-HP_0000007-GENCC_100003"	"HGNC:30391"	"IFT172"	"MONDO:0014284"	"short-rib thoracic dysplasia 10 with or without polydactyly"	"OMIM:615630"	"Short-rib thoracic dysplasia 10 with or without polydactyly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30391"	"IFT172"	"OMIM:615630"	"Short-rib thoracic dysplasia 10 with or without polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-08 13:30:34"	""	""	""	"PMID: 28106320"	"61812"	"2020-12-24"
"GENCC_000101-HGNC_30391-OMIM_616394-HP_0000007-GENCC_100003"	"HGNC:30391"	"IFT172"	"MONDO:0014618"	"retinitis pigmentosa 71"	"OMIM:616394"	"Retinitis pigmentosa 71"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30391"	"IFT172"	"OMIM:616394"	"Retinitis pigmentosa 71"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-25 13:30:35"	""	""	""	"PMID: 28106320"	"61812"	"2020-12-24"
"GENCC_000101-HGNC_29262-OMIM_611263-HP_0000007-GENCC_100003"	"HGNC:29262"	"IFT80"	"MONDO:0012644"	"asphyxiating thoracic dystrophy 2"	"OMIM:611263"	"Short-rib thoracic dysplasia 2 with or without polydactyly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29262"	"IFT80"	"OMIM:611263"	"Short-rib thoracic dysplasia 2 with or without polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-21 13:30:35"	""	""	""	"PMID: 28106320"	"74712"	"2020-12-24"
"GENCC_000101-HGNC_5476-OMIM_614224-HP_0000007-GENCC_100003"	"HGNC:5476"	"IGFBP7"	"MONDO:0013640"	"familial retinal arterial macroaneurysm"	"OMIM:614224"	"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5476"	"IGFBP7"	"OMIM:614224"	"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:35"	""	""	""	"PMID: 28106320"	"9032"	"2020-12-24"
"GENCC_000101-HGNC_5970-OMIM_614890-HP_0000007-GENCC_100001"	"HGNC:5970"	"IL12B"	"MONDO:0013954"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"	"OMIM:614890"	"Immunodeficiency 29, mycobacteriosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5970"	"IL12B"	"OMIM:614890"	"Immunodeficiency 29, mycobacteriosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-02 13:30:36"	""	""	""	"PMID: 28106320"	"9739"	"2020-12-24"
"GENCC_000101-HGNC_6000-OMIM_612852-HP_0000007-GENCC_100003"	"HGNC:6000"	"IL1RN"	"MONDO:0013021"	"sterile multifocal osteomyelitis with periostitis and pustulosis"	"OMIM:612852"	"Interleukin 1 receptor antagonist deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6000"	"IL1RN"	"OMIM:612852"	"Interleukin 1 receptor antagonist deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-14 13:30:36"	""	""	""	"PMID: 28106320"	"9774"	"2020-12-24"
"GENCC_000101-HGNC_18969-OMIM_613955-HP_0000006-GENCC_100004"	"HGNC:18969"	"IL31RA"	"MONDO:0013502"	"amyloidosis, primary localized cutaneous, 2"	"OMIM:613955"	"?Amyloidosis, primary localized cutaneous, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18969"	"IL31RA"	"OMIM:613955"	"Amyloidosis, primary localized cutaneous, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-12 13:30:36"	""	""	""	"PMID: 28106320"	"899931"	"2020-12-24"
"GENCC_000101-HGNC_6024-OMIM_608971-HP_0000007-GENCC_100001"	"HGNC:6024"	"IL7R"	"MONDO:0012163"	"immunodeficiency 104"	"OMIM:608971"	"Immunodeficiency 104, severe combined"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6024"	"IL7R"	"OMIM:608971"	"Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-26 13:30:37"	""	""	""	"PMID: 28106320"	"9747"	"2020-12-24"
"GENCC_000101-HGNC_29239-OMIM_617926-HP_0000007-GENCC_100003"	"HGNC:29239"	"INTU"	"MONDO:0033375"	"orofaciodigital syndrome 17"	"OMIM:617926"	"?Orofaciodigital syndrome XVII"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29239"	"INTU"	"OMIM:617926"	"Orofaciodigital syndrome XVII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-22 13:30:37"	""	""	""	"PMID: 28106320"	"64876"	"2020-12-24"
"GENCC_000101-HGNC_4053-OMIM_616126-HP_0000007-GENCC_100004"	"HGNC:4053"	"ISG15"	"MONDO:0014502"	"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"	"OMIM:616126"	"Immunodeficiency 38"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4053"	"ISG15"	"OMIM:616126"	"Immunodeficiency 38"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:38"	""	""	""	"PMID: 28106320"	"3191"	"2020-12-24"
"GENCC_000101-HGNC_6171-OMIM_613011-HP_0000007-GENCC_100003"	"HGNC:6171"	"ITK"	"MONDO:0013081"	"lymphoproliferative syndrome 1"	"OMIM:613011"	"Lymphoproliferative syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6171"	"ITK"	"OMIM:613011"	"Lymphoproliferative syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-02 13:30:38"	""	""	""	"PMID: 28106320"	"9426"	"2020-12-24"
"GENCC_000101-HGNC_6250-OMIM_611816-HP_0000006-GENCC_100003"	"HGNC:6250"	"KCNH1"	"MONDO:0012735"	"Temple-Baraitser syndrome"	"OMIM:611816"	"Temple-Baraitser syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6250"	"KCNH1"	"OMIM:611816"	"Temple-Baraitser syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-08 13:30:39"	""	""	""	"PMID: 28106320"	"9471"	"2020-12-24"
"GENCC_000101-HGNC_6250-OMIM_135500-HP_0000006-GENCC_100003"	"HGNC:6250"	"KCNH1"	"MONDO:0024526"	"Zimmermann-Laband syndrome 1"	"OMIM:135500"	"Zimmermann-Laband syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6250"	"KCNH1"	"OMIM:135500"	"Zimmermann-Laband syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-08 13:30:39"	""	""	""	"PMID: 28106320"	"9471"	"2020-12-24"
"GENCC_000101-HGNC_6256-OMIM_612780-HP_0000007-GENCC_100002"	"HGNC:6256"	"KCNJ10"	"MONDO:0013005"	"EAST syndrome"	"OMIM:612780"	"SESAME syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6256"	"KCNJ10"	"OMIM:612780"	"SESAME syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-02-28 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9172"	"2025-01-17"
"GENCC_000101-HGNC_6292-OMIM_618658-HP_0000006-GENCC_100003"	"HGNC:6292"	"KCNN3"	"MONDO:0032854"	"zimmermann-laband syndrome 3"	"OMIM:618658"	"Zimmermann-Laband syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6292"	"KCNN3"	"OMIM:618658"	"Zimmermann-Laband syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11578"	"2023-08-19"
"GENCC_000101-HGNC_18866-OMIM_617771-HP_0000006-GENCC_100003"	"HGNC:18866"	"KCNT2"	"MONDO:0033366"	"developmental and epileptic encephalopathy, 57"	"OMIM:617771"	"Developmental and epileptic encephalopathy 57"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18866"	"KCNT2"	"OMIM:617771"	"Developmental and epileptic encephalopathy 57"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-02 13:30:40"	""	""	""	"PMID: 28106320"	"909072"	"2020-12-24"
"GENCC_000101-HGNC_29079-OMIM_616728-HP_0000006-GENCC_100003"	"HGNC:29079"	"KDM1A"	"MONDO:0014751"	"palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"	"OMIM:616728"	"Cleft palate, psychomotor retardation, and distinctive facial features"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29079"	"KDM1A"	"OMIM:616728"	"Cleft palate, psychomotor retardation, and distinctive facial features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-12-11 13:30:41"	""	""	""	"PMID: 28106320"	"69265"	"2020-12-24"
"GENCC_000101-HGNC_1337-OMIM_618846-HP_0000006-GENCC_100001"	"HGNC:1337"	"KDM3B"	"MONDO:0030012"	"Diets-Jongmans syndrome"	"OMIM:618846"	"Diets-Jongmans syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1337"	"KDM3B"	"OMIM:618846"	"Diets-Jongmans syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-03 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11673"	"2025-01-17"
"GENCC_000101-HGNC_26953-OMIM_617822-HP_0000007-GENCC_100002"	"HGNC:26953"	"BLTP1"	"MONDO:0060631"	"Alkuraya-Kucinskas syndrome"	"OMIM:617822"	"Alkuraya-Kucinskas syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26953"	"KIAA1109"	"OMIM:617822"	"Alkuraya-Kucinskas syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-05 13:30:41"	""	""	""	"PMID: 28106320"	"50816"	"2020-12-24"
"GENCC_000101-HGNC_19181-OMIM_616258-HP_0000007-GENCC_100003"	"HGNC:19181"	"KIF14"	"MONDO:0014552"	"lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"	"OMIM:616258"	"?Meckel syndrome 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19181"	"KIF14"	"OMIM:616258"	"Meckel syndrome 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-27 13:30:42"	""	""	""	"PMID: 28106320"	"3365"	"2020-12-24"
"GENCC_000101-HGNC_888-OMIM_614255-HP_0000006-GENCC_100003"	"HGNC:888"	"KIF1A"	"MONDO:0013656"	"intellectual disability, autosomal dominant 9"	"OMIM:614255"	"NESCAV syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:888"	"KIF1A"	"OMIM:614255"	"NESCAV syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-02-09 00:00:00"	""	""	""	"PMID: 28106320"	"704"	"2020-12-24"
"GENCC_000101-HGNC_888-OMIM_614213-HP_0000007-GENCC_100004"	"HGNC:888"	"KIF1A"	"MONDO:0013634"	"neuropathy, hereditary sensory, type 2C"	"OMIM:614213"	"Neuropathy, hereditary sensory, type IIC"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:888"	"KIF1A"	"OMIM:614213"	"Neuropathy, hereditary sensory, type IIC"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92474"	"2023-08-19"
"GENCC_000101-HGNC_888-OMIM_610357-HP_0000006-GENCC_100002"	"HGNC:888"	"KIF1A"	"MONDO:0012476"	"hereditary spastic paraplegia 30"	"OMIM:610357"	"Spastic paraplegia 30, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:888"	"KIF1A"	"OMIM:610357"	"Spastic paraplegia 30, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-08-28 13:30:42"	""	""	""	"PMID: 28106320"	"704"	"2020-12-24"
"GENCC_000101-HGNC_888-OMIM_610357-HP_0000007-GENCC_100002"	"HGNC:888"	"KIF1A"	"MONDO:0012476"	"hereditary spastic paraplegia 30"	"OMIM:610357"	"Spastic paraplegia 30, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:888"	"KIF1A"	"OMIM:610357"	"Spastic paraplegia 30, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-08-28 13:30:43"	""	""	""	"PMID: 28106320"	"704"	"2020-12-24"
"GENCC_000101-HGNC_16636-OMIM_256700-HP_0000006-GENCC_100004"	"HGNC:16636"	"KIF1B"	"MONDO:0009741"	"neuroblastoma, susceptibility to, 1"	"OMIM:256700"	"{Neuroblastoma, susceptibility to, 1}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16636"	"KIF1B"	"OMIM:256700"	"Neuroblastoma, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-07-31 13:30:43"	""	""	""	"PMID: 28106320"	"69237"	"2020-12-24"
"GENCC_000101-HGNC_6318-OMIM_615411-HP_0000006-GENCC_100003"	"HGNC:6318"	"KIF2A"	"MONDO:0014170"	"complex cortical dysplasia with other brain malformations 3"	"OMIM:615411"	"Cortical dysplasia, complex, with other brain malformations 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6318"	"KIF2A"	"OMIM:615411"	"Cortical dysplasia, complex, with other brain malformations 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-08 13:30:44"	""	""	""	"PMID: 28106320"	"9431"	"2020-12-24"
"GENCC_000101-HGNC_6342-OMIM_172800-HP_0000006-GENCC_100001"	"HGNC:6342"	"KIT"	"MONDO:0008244"	"piebaldism"	"OMIM:172800"	"Piebaldism"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6342"	"KIT"	"OMIM:172800"	"Piebaldism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:30:44"	""	""	""	"PMID: 28106320"	"9587"	"2020-12-24"
"GENCC_000101-HGNC_6342-OMIM_154800-HP_0000006-GENCC_100003"	"HGNC:6342"	"KIT"	"MONDO:0007950"	"mastocytosis"	"OMIM:154800"	"Mastocytosis, systemic, somatic"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6342"	"KIT"	"OMIM:154800"	"Mastocytosis, cutaneous"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:44"	""	""	""	"PMID: 28106320"	"9587"	"2020-12-24"
"GENCC_000101-HGNC_6354-OMIM_614495-HP_0000006-GENCC_100002"	"HGNC:6354"	"KLHL3"	"MONDO:0013781"	"pseudohypoaldosteronism type 2D"	"OMIM:614495"	"Pseudohypoaldosteronism, type IID"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6354"	"KLHL3"	"OMIM:614495"	"Pseudohypoaldosteronism, type IID"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-06 13:30:45"	""	""	""	"PMID: 28106320"	"61603"	"2020-12-24"
"GENCC_000101-HGNC_6490-OMIM_226650-HP_0000007-GENCC_100001"	"HGNC:6490"	"LAMB3"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6490"	"LAMB3"	"OMIM:226650"	"Epidermolysis bullosa, junctional, non-Herlitz type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:30:45"	""	""	""	"PMID: 28106320"	"9380"	"2020-12-24"
"GENCC_000101-HGNC_6490-OMIM_226700-HP_0000007-GENCC_100001"	"HGNC:6490"	"LAMB3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6490"	"LAMB3"	"OMIM:226700"	"Epidermolysis bullosa, junctional, Herlitz type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:30:45"	""	""	""	"PMID: 28106320"	"9380"	"2020-12-24"
"GENCC_000101-HGNC_6490-OMIM_104530-HP_0000006-GENCC_100003"	"HGNC:6490"	"LAMB3"	"MONDO:0007094"	"amelogenesis imperfecta type 1A"	"OMIM:104530"	"Amelogenesis imperfecta, type IA"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6490"	"LAMB3"	"OMIM:104530"	"Amelogenesis imperfecta, type IA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-16 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78087"	"2025-01-17"
"GENCC_000101-HGNC_24912-OMIM_615071-HP_0000007-GENCC_100003"	"HGNC:24912"	"LARP7"	"MONDO:0014031"	"microcephalic primordial dwarfism, Alazami type"	"OMIM:615071"	"Alazami syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24912"	"LARP7"	"OMIM:615071"	"Alazami syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:30:46"	""	""	""	"PMID: 28106320"	"78740"	"2020-12-24"
"GENCC_000101-HGNC_17095-OMIM_617021-HP_0000007-GENCC_100004"	"HGNC:17095"	"LARS2"	"MONDO:0014869"	"hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"	"OMIM:617021"	"Hydrops, lactic acidosis, and sideroblastic anemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17095"	"LARS2"	"OMIM:617021"	"Hydrops, lactic acidosis, and sideroblastic anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-03 13:30:46"	""	""	""	"PMID: 28106320"	"69937"	"2020-12-24"
"GENCC_000101-HGNC_6518-OMIM_169400-HP_0000006-GENCC_100003"	"HGNC:6518"	"LBR"	"MONDO:0008214"	"Pelger-Huet anomaly"	"OMIM:169400"	"Pelger-Huet anomaly"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6518"	"LBR"	"OMIM:169400"	"Pelger-Huet anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:47"	""	""	""	"PMID: 28106320"	"9392"	"2020-12-24"
"GENCC_000101-HGNC_6518-OMIM_215140-HP_0000007-GENCC_100003"	"HGNC:6518"	"LBR"	"MONDO:0008974"	"Greenberg dysplasia"	"OMIM:215140"	"Greenberg skeletal dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6518"	"LBR"	"OMIM:215140"	"Greenberg skeletal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:47"	""	""	""	"PMID: 28106320"	"9392"	"2020-12-24"
"GENCC_000101-HGNC_6524-OMIM_615758-HP_0000007-GENCC_100004"	"HGNC:6524"	"LCK"	"MONDO:0014334"	"severe combined immunodeficiency due to LCK deficiency"	"OMIM:615758"	"Immunodeficiency 22"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6524"	"LCK"	"OMIM:615758"	"Immunodeficiency 22"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-05 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78958"	"2025-01-17"
"GENCC_000101-HGNC_6530-OMIM_223000-HP_0000007-GENCC_100003"	"HGNC:6530"	"LCT"	"MONDO:0009115"	"congenital lactase deficiency"	"OMIM:223000"	"Lactase deficiency, congenital"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6530"	"LCT"	"OMIM:223000"	"Lactase deficiency, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-27 13:30:48"	""	""	""	"PMID: 28106320"	"9395"	"2020-12-24"
"GENCC_000101-HGNC_21734-OMIM_262700-HP_0000006-GENCC_100003"	"HGNC:21734"	"LHX4"	"MONDO:0009880"	"short stature-pituitary and cerebellar defects-small sella turcica syndrome"	"OMIM:262700"	"Pituitary hormone deficiency, combined, 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21734"	"LHX4"	"OMIM:262700"	"Pituitary hormone deficiency, combined, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-15 13:30:48"	""	""	""	"PMID: 28106320"	"53550"	"2020-12-24"
"GENCC_000101-HGNC_16429-OMIM_614462-HP_0000007-GENCC_100003"	"HGNC:16429"	"LIAS"	"MONDO:0013762"	"lipoic acid synthetase deficiency"	"OMIM:614462"	"Hyperglycinemia, lactic acidosis, and seizures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16429"	"LIAS"	"OMIM:614462"	"Hyperglycinemia, lactic acidosis, and seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:48"	""	""	""	"PMID: 28106320"	"88283"	"2020-12-24"
"GENCC_000101-HGNC_29569-OMIM_616299-HP_0000007-GENCC_100003"	"HGNC:29569"	"LIPT1"	"MONDO:0014576"	"lipoyl transferase 1 deficiency"	"OMIM:616299"	"Lipoyltransferase 1 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29569"	"LIPT1"	"OMIM:616299"	"Lipoyltransferase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:30:48"	""	""	""	"PMID: 28106320"	"78128"	"2020-12-24"
"GENCC_000101-HGNC_6636-OMIM_610140-HP_0000006-GENCC_100004"	"HGNC:6636"	"LMNA"	"MONDO:0012417"	"heart-hand syndrome, Slovenian type"	"OMIM:610140"	"Heart-hand syndrome, Slovenian type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6636"	"LMNA"	"OMIM:610140"	"Heart-hand syndrome, Slovenian type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:49"	""	""	""	"PMID: 28106320"	"0222"	"2020-12-24"
"GENCC_000101-HGNC_6636-OMIM_176670-HP_0032113-GENCC_100003"	"HGNC:6636"	"LMNA"	"MONDO:0008310"	"Hutchinson-Gilford progeria syndrome"	"OMIM:176670"	"Hutchinson-Gilford progeria"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6636"	"LMNA"	"OMIM:176670"	"Hutchinson-Gilford progeria"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:49"	""	""	""	"PMID: 28106320"	"0222"	"2020-12-24"
"GENCC_000101-HGNC_6636-OMIM_115200-HP_0000006-GENCC_100001"	"HGNC:6636"	"LMNA"	"MONDO:0007269"	"dilated cardiomyopathy 1A"	"OMIM:115200"	"Cardiomyopathy, dilated, 1A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6636"	"LMNA"	"OMIM:115200"	"Cardiomyopathy, dilated 1A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	""	""	""	"PMID: 28106320"	"0222"	"2020-12-24"
"GENCC_000101-HGNC_6636-OMIM_181350-HP_0032113-GENCC_100001"	"HGNC:6636"	"LMNA"	"MONDO:0021569"	"Emery-Dreifuss muscular dystrophy 2, autosomal dominant"	"OMIM:181350"	"Emery-Dreifuss muscular dystrophy 2, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6636"	"LMNA"	"OMIM:181350"	"Emery-Dreifuss muscular dystrophy 2"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	""	""	""	"PMID: 28106320"	"0222"	"2020-12-24"
"GENCC_000101-HGNC_6636-OMIM_605588-HP_0000007-GENCC_100003"	"HGNC:6636"	"LMNA"	"MONDO:0011569"	"Charcot-Marie-Tooth disease type 2B1"	"OMIM:605588"	"Charcot-Marie-Tooth disease, type 2B1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6636"	"LMNA"	"OMIM:605588"	"Charcot-Marie-Tooth disease, type 2B1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-02-21 13:30:49"	""	""	""	"PMID: 28106320"	"0222"	"2020-12-24"
"GENCC_000101-HGNC_6637-OMIM_169500-HP_0000006-GENCC_100004"	"HGNC:6637"	"LMNB1"	"MONDO:0008215"	"adult-onset autosomal dominant demyelinating leukodystrophy"	"OMIM:169500"	"Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6637"	"LMNB1"	"OMIM:169500"	"Leukodystrophy, adult-onset, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-15 13:30:50"	""	""	""	"PMID: 28106320"	"0228"	"2020-12-24"
"GENCC_000101-HGNC_6653-OMIM_601412-HP_0000006-GENCC_100004"	"HGNC:6653"	"LMX1A"	"MONDO:0011074"	"autosomal dominant nonsyndromic hearing loss 7"	"OMIM:601412"	"Deafness, autosomal dominant 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6653"	"LMX1A"	"OMIM:601412"	"Deafness, autosomal dominant 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-24 13:30:50"	""	""	""	"PMID: 28106320"	"0223"	"2020-12-24"
"GENCC_000101-HGNC_21610-OMIM_618090-HP_0000007-GENCC_100002"	"HGNC:21610"	"LNPK"	"MONDO:0060761"	"neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum"	"OMIM:618090"	"Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21610"	"LNPK"	"OMIM:618090"	"Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-10-17 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11164"	"2024-01-02"
"GENCC_000101-HGNC_6664-OMIM_617168-HP_0000006-GENCC_100003"	"HGNC:6664"	"LOX"	"MONDO:0014950"	"aortic aneurysm, familial thoracic 10"	"OMIM:617168"	"Aortic aneurysm, familial thoracic 10"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6664"	"LOX"	"OMIM:617168"	"Aortic aneurysm, familial thoracic 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:51"	""	""	""	"PMID: 28106320"	"0287"	"2020-12-24"
"GENCC_000101-HGNC_13345-OMIM_268200-HP_0000007-GENCC_100002"	"HGNC:13345"	"LPIN1"	"MONDO:0009992"	"myoglobinuria, acute recurrent, autosomal recessive"	"OMIM:268200"	"Myoglobinuria, acute recurrent, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13345"	"LPIN1"	"OMIM:268200"	"Myoglobinuria, acute recurrent, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-08-14 13:30:51"	""	""	""	"PMID: 28106320"	"69847"	"2020-12-24"
"GENCC_000101-HGNC_6685-OMIM_613341-HP_0000007-GENCC_100003"	"HGNC:6685"	"LRAT"	"MONDO:0013231"	"Leber congenital amaurosis 14"	"OMIM:613341"	"Retinitis pigmentosa, juvenile"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6685"	"LRAT"	"OMIM:613341"	"Leber congenital amaurosis 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-21 13:30:52"	""	""	""	"PMID: 28106320"	"3664"	"2020-12-24"
"GENCC_000101-HGNC_24783-OMIM_615058-HP_0000007-GENCC_100003"	"HGNC:24783"	"LRIT3"	"MONDO:0014026"	"congenital stationary night blindness 1F"	"OMIM:615058"	"Night blindness, congenital stationary (complete), 1F, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24783"	"LRIT3"	"OMIM:615058"	"Night blindness, congenital stationary (complete), 1F, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-05 13:30:52"	""	""	""	"PMID: 28106320"	"907839"	"2020-12-24"
"GENCC_000101-HGNC_6741-OMIM_615994-HP_0000007-GENCC_100003"	"HGNC:6741"	"LZTFL1"	"MONDO:0014445"	"Bardet-Biedl syndrome 17"	"OMIM:615994"	"Bardet-Biedl syndrome 17"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6741"	"LZTFL1"	"OMIM:615994"	"Bardet-Biedl syndrome 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-28 13:30:53"	""	""	""	"PMID: 28106320"	"70757"	"2020-12-24"
"GENCC_000101-HGNC_13664-OMIM_618325-HP_0000006-GENCC_100003"	"HGNC:13664"	"MACF1"	"MONDO:0032677"	"lissencephaly 9 with complex brainstem malformation"	"OMIM:618325"	"Lissencephaly 9 with complex brainstem malformation"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13664"	"MACF1"	"OMIM:618325"	"Lissencephaly 9 with complex brainstem malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-14 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11425"	"2025-01-17"
"GENCC_000101-HGNC_6816-OMIM_614181-HP_0000007-GENCC_100003"	"HGNC:6816"	"MAK"	"MONDO:0013611"	"retinitis pigmentosa 62"	"OMIM:614181"	"Retinitis pigmentosa 62"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6816"	"MAK"	"OMIM:614181"	"Retinitis pigmentosa 62"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-29 13:30:54"	""	""	""	"PMID: 28106320"	"0884"	"2020-12-24"
"GENCC_000101-HGNC_6831-OMIM_248510-HP_0000007-GENCC_100002"	"HGNC:6831"	"MANBA"	"MONDO:0009562"	"beta-mannosidosis"	"OMIM:248510"	"Mannosidosis, beta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6831"	"MANBA"	"OMIM:248510"	"Mannosidosis, beta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:30:54"	""	""	""	"PMID: 28106320"	"0861"	"2020-12-24"
"GENCC_000101-HGNC_25133-OMIM_616430-HP_0000007-GENCC_100004"	"HGNC:25133"	"MARS2"	"MONDO:0014636"	"combined oxidative phosphorylation defect type 25"	"OMIM:616430"	"?Combined oxidative phosphorylation deficiency 25"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25133"	"MARS2"	"OMIM:616430"	"Combined oxidative phosphorylation deficiency 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:30:55"	""	""	""	"PMID: 28106320"	"36397"	"2020-12-24"
"GENCC_000101-HGNC_26401-OMIM_610153-HP_0000007-GENCC_100003"	"HGNC:26401"	"MARVELD2"	"MONDO:0012420"	"autosomal recessive nonsyndromic hearing loss 49"	"OMIM:610153"	"Deafness, autosomal recessive 49"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26401"	"MARVELD2"	"OMIM:610153"	"Deafness, autosomal recessive 49"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:55"	""	""	""	"PMID: 28106320"	"879716"	"2020-12-24"
"GENCC_000101-HGNC_6912-OMIM_606070-HP_0000006-GENCC_100003"	"HGNC:6912"	"MATR3"	"MONDO:0011632"	"amyotrophic lateral sclerosis type 21"	"OMIM:606070"	"Amyotrophic lateral sclerosis 21"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6912"	"MATR3"	"OMIM:606070"	"Amyotrophic lateral sclerosis 21"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:30:55"	""	""	""	"PMID: 28106320"	"3456"	"2020-12-24"
"GENCC_000101-HGNC_6936-OMIM_210200-HP_0000007-GENCC_100001"	"HGNC:6936"	"MCCC1"	"MONDO:0008861"	"3-methylcrotonyl-CoA carboxylase 1 deficiency"	"OMIM:210200"	"3-Methylcrotonyl-CoA carboxylase 1 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6936"	"MCCC1"	"OMIM:210200"	"3-Methylcrotonyl-CoA carboxylase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-09 13:30:55"	""	""	""	"PMID: 28106320"	"71366"	"2020-12-24"
"GENCC_000101-HGNC_6937-OMIM_210210-HP_0000007-GENCC_100001"	"HGNC:6937"	"MCCC2"	"MONDO:0008862"	"3-methylcrotonyl-CoA carboxylase 2 deficiency"	"OMIM:210210"	"3-Methylcrotonyl-CoA carboxylase 2 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6937"	"MCCC2"	"OMIM:210210"	"3-Methylcrotonyl-CoA carboxylase 2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-12 13:30:55"	""	""	""	"PMID: 28106320"	"10254"	"2020-12-24"
"GENCC_000101-HGNC_40050-OMIM_618695-HP_0000007-GENCC_100003"	"HGNC:40050"	"MCIDAS"	"MONDO:0032872"	"ciliary dyskinesia, primary, 42"	"OMIM:618695"	"Ciliary dyskinesia, primary, 42"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:40050"	"MCIDAS"	"OMIM:618695"	"Ciliary dyskinesia, primary, 42"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-31 13:30:55"	""	""	""	"PMID: 28106320"	"907109"	"2020-12-24"
"GENCC_000101-HGNC_6970-OMIM_618959-HP_0000007-GENCC_100004"	"HGNC:6970"	"MDH1"	"MONDO:0030072"	"developmental and epileptic encephalopathy, 88"	"OMIM:618959"	"?Developmental and epileptic encephalopathy 88"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6970"	"MDH1"	"OMIM:618959"	"Developmental and epileptic encephalopathy 88"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-09-30 13:30:56"	""	""	""	"PMID: 28106320"	"0832"	"2020-12-24"
"GENCC_000101-HGNC_3498-OMIM_616738-HP_0000006-GENCC_100001"	"HGNC:3498"	"MECOM"	"MONDO:0014758"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 2"	"OMIM:616738"	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3498"	"MECOM"	"OMIM:616738"	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-01-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"84764"	"2023-08-19"
"GENCC_000101-HGNC_16050-OMIM_618872-HP_0000006-GENCC_100003"	"HGNC:16050"	"MED12L"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"OMIM:618872"	"Nizon-Isidor syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16050"	"MED12L"	"OMIM:618872"	"Nizon-Isidor syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-28 13:30:56"	""	""	""	"PMID: 28106320"	"881398"	"2020-12-24"
"GENCC_000101-HGNC_6996-OMIM_613443-HP_0000006-GENCC_100003"	"HGNC:6996"	"MEF2C"	"MONDO:0013266"	"intellectual disability, autosomal dominant 20"	"OMIM:613443"	"Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6996"	"MEF2C"	"OMIM:613443"	"Chromosome 5q14.3 deletion syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-26 13:30:56"	""	""	""	"PMID: 28106320"	"0625"	"2020-12-24"
"GENCC_000101-HGNC_6996-OMIM_613443-HP_0000006-GENCC_100001"	"HGNC:6996"	"MEF2C"	"MONDO:0013266"	"intellectual disability, autosomal dominant 20"	"OMIM:613443"	"Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6996"	"MEF2C"	"OMIM:613443"	"Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-26 13:30:57"	""	""	""	"PMID: 28106320"	"0625"	"2020-12-24"
"GENCC_000101-HGNC_7105-OMIM_103500-HP_0000006-GENCC_100003"	"HGNC:7105"	"MITF"	"MONDO:0007077"	"Tietz syndrome"	"OMIM:103500"	"Tietz albinism-deafness syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7105"	"MITF"	"OMIM:103500"	"Tietz albinism-deafness syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:57"	""	""	""	"PMID: 28106320"	"0651"	"2020-12-24"
"GENCC_000101-HGNC_7127-OMIM_158320-HP_0000006-GENCC_100003"	"HGNC:7127"	"MLH1"	"MONDO:0008018"	"Muir-Torre syndrome"	"OMIM:158320"	"Muir-Torre syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7127"	"MLH1"	"OMIM:158320"	"Muir-Torre syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:57"	""	""	""	"PMID: 28106320"	"0636"	"2020-12-24"
"GENCC_000101-HGNC_7127-OMIM_276300-HP_0000007-GENCC_100001"	"HGNC:7127"	"MLH1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"OMIM:276300"	"Mismatch repair cancer syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7127"	"MLH1"	"OMIM:276300"	"Mismatch repair cancer syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:30:57"	""	""	""	"PMID: 28106320"	"0636"	"2020-12-24"
"GENCC_000101-HGNC_7127-OMIM_609310-HP_0000006-GENCC_100001"	"HGNC:7127"	"MLH1"	"MONDO:0012249"	"Lynch syndrome 2"	"OMIM:609310"	"Lynch syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7127"	"MLH1"	"OMIM:609310"	"Colorectal cancer, hereditary nonpolyposis, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-01-28 13:30:57"	""	""	""	"PMID: 28106320"	"0636"	"2020-12-24"
"GENCC_000101-HGNC_18871-OMIM_251100-HP_0000007-GENCC_100001"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"OMIM:251100"	"Methylmalonic aciduria, vitamin B12-responsive, cblA type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18871"	"MMAA"	"OMIM:251100"	"Methylmalonic aciduria, vitamin B12-responsive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-17 13:30:57"	""	""	""	"PMID: 28106320"	"811457"	"2020-12-24"
"GENCC_000101-HGNC_24525-OMIM_277400-HP_0000007-GENCC_100002"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"OMIM:277400"	"Methylmalonic aciduria and homocystinuria, cblC type, digenic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24525"	"MMACHC"	"OMIM:277400"	"Methylmalonic aciduria and homocystinuria, cblC type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-08 13:30:57"	""	""	""	"PMID: 28106320"	"67340"	"2020-12-24"
"GENCC_000101-HGNC_25221-OMIM_277410-HP_0000007-GENCC_100003"	"HGNC:25221"	"MMADHC"	"MONDO:0010185"	"methylmalonic aciduria and homocystinuria type cblD"	"OMIM:277410"	"Methylmalonic aciduria and homocystinuria, cblD type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25221"	"MMADHC"	"OMIM:277410"	"Methylmalonic aciduria and homocystinuria, cblD type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-14 13:30:57"	""	""	""	"PMID: 28106320"	"64603"	"2020-12-24"
"GENCC_000101-HGNC_7154-OMIM_617017-HP_0000007-GENCC_100003"	"HGNC:7154"	"MME"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"OMIM:617017"	"Charcot-Marie-Tooth disease, axonal, type 2T"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7154"	"MME"	"OMIM:617017"	"Charcot-Marie-Tooth disease, axonal, type 2T"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:30:58"	""	""	""	"PMID: 28106320"	"0988"	"2020-12-24"
"GENCC_000101-HGNC_7154-OMIM_617018-HP_0000006-GENCC_100004"	"HGNC:7154"	"MME"	"MONDO:0014867"	"spinocerebellar ataxia 43"	"OMIM:617018"	"?Spinocerebellar ataxia 43"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7154"	"MME"	"OMIM:617018"	"Spinocerebellar ataxia 43"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17016"	"2023-08-19"
"GENCC_000101-HGNC_7190-OMIM_252150-HP_0000007-GENCC_100001"	"HGNC:7190"	"MOCS1"	"MONDO:0009643"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"	"OMIM:252150"	"Molybdenum cofactor deficiency A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7190"	"MOCS1"	"OMIM:252150"	"Molybdenum cofactor deficiency A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:30:59"	""	""	""	"PMID: 28106320"	"0994"	"2020-12-24"
"GENCC_000101-HGNC_7193-OMIM_252160-HP_0000007-GENCC_100003"	"HGNC:7193"	"MOCS2"	"MONDO:0009644"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"	"OMIM:252160"	"Molybdenum cofactor deficiency B"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7193"	"MOCS2"	"OMIM:252160"	"Molybdenum cofactor deficiency B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:30:59"	""	""	""	"PMID: 28106320"	"0995"	"2020-12-24"
"GENCC_000101-HGNC_24862-OMIM_606056-HP_0000007-GENCC_100003"	"HGNC:24862"	"MOGS"	"MONDO:0011629"	"MOGS-congenital disorder of glycosylation"	"OMIM:606056"	"Congenital disorder of glycosylation, type IIb"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24862"	"MOGS"	"OMIM:606056"	"Congenital disorder of glycosylation, type IIb"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-09-17 13:30:59"	""	""	""	"PMID: 28106320"	"4508"	"2020-12-24"
"GENCC_000101-HGNC_7217-OMIM_601977-HP_0000006-GENCC_100001"	"HGNC:7217"	"MPL"	"MONDO:0011173"	"thrombocythemia 2"	"OMIM:601977"	"Thrombocythemia 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7217"	"MPL"	"OMIM:601977"	"Thrombocythemia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65552"	"2023-08-19"
"GENCC_000101-HGNC_7224-OMIM_256810-HP_0000007-GENCC_100002"	"HGNC:7224"	"MPV17"	"MONDO:0009747"	"mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"	"OMIM:256810"	"Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7224"	"MPV17"	"OMIM:256810"	"Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-15 13:31:00"	""	""	""	"PMID: 28106320"	"0975"	"2020-12-24"
"GENCC_000101-HGNC_7227-OMIM_618499-HP_0000006-GENCC_100003"	"HGNC:7227"	"MRAS"	"MONDO:0032786"	"Noonan syndrome 11"	"OMIM:618499"	"Noonan syndrome 11"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7227"	"MRAS"	"OMIM:618499"	"Noonan syndrome 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-31 13:31:00"	""	""	""	"PMID: 28106320"	"66525"	"2020-12-24"
"GENCC_000101-HGNC_10379-OMIM_614582-HP_0000007-GENCC_100004"	"HGNC:10379"	"MRPL3"	"MONDO:0013811"	"combined oxidative phosphorylation defect type 9"	"OMIM:614582"	"Combined oxidative phosphorylation deficiency 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10379"	"MRPL3"	"OMIM:614582"	"Combined oxidative phosphorylation deficiency 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-10 13:31:00"	""	""	""	"PMID: 28106320"	"88666"	"2020-12-24"
"GENCC_000101-HGNC_16650-OMIM_615395-HP_0000007-GENCC_100003"	"HGNC:16650"	"MRPL44"	"MONDO:0014162"	"infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"	"OMIM:615395"	"Combined oxidative phosphorylation deficiency 16"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16650"	"MRPL44"	"OMIM:615395"	"Combined oxidative phosphorylation deficiency 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-24 13:31:01"	""	""	""	"PMID: 28106320"	"17252"	"2020-12-24"
"GENCC_000101-HGNC_10545-OMIM_616834-HP_0000007-GENCC_100004"	"HGNC:10545"	"MSMO1"	"MONDO:0014793"	"microcephaly-congenital cataract-psoriasiform dermatitis syndrome"	"OMIM:616834"	"Microcephaly, congenital cataract, and psoriasiform dermatitis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10545"	"MSMO1"	"OMIM:616834"	"Microcephaly, congenital cataract, and psoriasiform dermatitis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-14 13:31:01"	""	""	""	"PMID: 28106320"	"1924"	"2020-12-24"
"GENCC_000101-HGNC_7380-OMIM_614868-HP_0000007-GENCC_100003"	"HGNC:7380"	"MST1"	"MONDO:0013934"	"combined immunodeficiency due to STK4 deficiency"	"OMIM:614868"	"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7380"	"MST1"	"OMIM:614868"	"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:02"	""	""	""	"PMID: 28106320"	"0057"	"2020-12-24"
"GENCC_000101-HGNC_7508-OMIM_174000-HP_0000006-GENCC_100003"	"HGNC:7508"	"MUC1"	"MONDO:0020726"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"OMIM:174000"	"Tubulointerstitial kidney disease, autosomal dominant, 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7508"	"MUC1"	"OMIM:174000"	"Medullary cystic kidney disease 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-20 13:31:02"	""	""	""	"PMID: 28106320"	"0756"	"2020-12-24"
"GENCC_000101-HGNC_7559-OMIM_164280-HP_0000006-GENCC_100001"	"HGNC:7559"	"MYCN"	"MONDO:0008115"	"Feingold syndrome type 1"	"OMIM:164280"	"Feingold syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7559"	"MYCN"	"OMIM:164280"	"Feingold syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-26 13:31:02"	""	""	""	"PMID: 28106320"	"0189"	"2020-12-24"
"GENCC_000101-HGNC_7562-OMIM_612260-HP_0000007-GENCC_100003"	"HGNC:7562"	"MYD88"	"MONDO:0012839"	"pyogenic bacterial infections due to MyD88 deficiency"	"OMIM:612260"	"Immunodeficiency 68"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7562"	"MYD88"	"OMIM:612260"	"Immunodeficiency 68"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:03"	""	""	""	"PMID: 28106320"	"0187"	"2020-12-24"
"GENCC_000101-HGNC_7582-OMIM_618414-HP_0000007-GENCC_100004"	"HGNC:7582"	"MYL1"	"MONDO:0034109"	"congenital myopathy with reduced type 2 muscle fibers"	"OMIM:618414"	"Congenital myopathy 14"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7582"	"MYL1"	"OMIM:618414"	"Myopathy, congenital, with fast-twitch (type II) fiber atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-10-01 13:31:03"	""	""	""	"PMID: 28106320"	"0196"	"2020-12-24"
"GENCC_000101-HGNC_7584-OMIM_608751-HP_0032113-GENCC_100002"	"HGNC:7584"	"MYL3"	"MONDO:0012111"	"hypertrophic cardiomyopathy 8"	"OMIM:608751"	"Cardiomyopathy, hypertrophic, 8"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7584"	"MYL3"	"OMIM:608751"	"Cardiomyopathy, hypertrophic, 8"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:31:03"	""	""	""	"PMID: 28106320"	"0190"	"2020-12-24"
"GENCC_000101-HGNC_7590-OMIM_613780-HP_0000006-GENCC_100003"	"HGNC:7590"	"MYLK"	"MONDO:0013418"	"aortic aneurysm, familial thoracic 7"	"OMIM:613780"	"Aortic aneurysm, familial thoracic 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7590"	"MYLK"	"OMIM:613780"	"Aortic aneurysm, familial thoracic 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-09-13 00:00:00"	""	""	""	"PMID: 28106320"	"0195"	"2020-12-24"
"GENCC_000101-HGNC_7590-OMIM_249210-HP_0000007-GENCC_100004"	"HGNC:7590"	"MYLK"	"MONDO:0007960"	"megacystis-microcolon-intestinal hypoperistalsis syndrome"	"OMIM:249210"	"Megacystis-microcolon-intestinal hypoperistalsis syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7590"	"MYLK"	"OMIM:249210"	"Megacystis-microcolon-intestinal hypoperistalsis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2017-06-09 00:00:00"	""	""	""	"PMID: 28106320"	"0195"	"2020-12-24"
"GENCC_000101-HGNC_7610-OMIM_137750-HP_0000006-GENCC_100001"	"HGNC:7610"	"MYOC"	"MONDO:0007664"	"glaucoma 1, open angle, A"	"OMIM:137750"	"Glaucoma 1A, primary open angle"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7610"	"MYOC"	"OMIM:137750"	"Glaucoma 1A, primary open angle"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:04"	""	""	""	"PMID: 28106320"	"0179"	"2020-12-24"
"GENCC_000101-HGNC_1330-OMIM_613838-HP_0000006-GENCC_100004"	"HGNC:1330"	"MYOZ2"	"MONDO:0013455"	"hypertrophic cardiomyopathy 16"	"OMIM:613838"	"Cardiomyopathy, hypertrophic, 16"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1330"	"MYOZ2"	"OMIM:613838"	"Cardiomyopathy, hypertrophic, 16"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-29 13:31:05"	""	""	""	"PMID: 28106320"	"78445"	"2020-12-24"
"GENCC_000101-HGNC_7623-OMIM_616521-HP_0000006-GENCC_100002"	"HGNC:7623"	"MYT1L"	"MONDO:0014678"	"intellectual disability, autosomal dominant 39"	"OMIM:616521"	"Intellectual developmental disorder, autosomal dominant 39"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7623"	"MYT1L"	"OMIM:616521"	"Mental retardation, autosomal dominant 39"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-23 13:31:05"	""	""	""	"PMID: 28106320"	"69202"	"2020-12-24"
"GENCC_000101-HGNC_7661-OMIM_233710-HP_0000007-GENCC_100001"	"HGNC:7661"	"NCF2"	"MONDO:0009310"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2"	"OMIM:233710"	"Chronic granulomatous disease 2, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7661"	"NCF2"	"OMIM:233710"	"Chronic granulomatous disease due to deficiency of NCF-2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-14 13:31:05"	""	""	""	"PMID: 28106320"	"0155"	"2020-12-24"
"GENCC_000101-HGNC_17091-OMIM_142690-HP_0000006-GENCC_100003"	"HGNC:17091"	"NCSTN"	"MONDO:0007728"	"acne inversa, familial, 1"	"OMIM:142690"	"Acne inversa, familial, 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17091"	"NCSTN"	"OMIM:142690"	"Acne inversa, familial, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-31 13:31:05"	""	""	""	"PMID: 28106320"	"69957"	"2020-12-24"
"GENCC_000101-HGNC_28086-OMIM_618233-HP_0000007-GENCC_100003"	"HGNC:28086"	"NDUFAF2"	"MONDO:0032616"	"mitochondrial complex 1 deficiency, nuclear type 10"	"OMIM:618233"	"Mitochondrial complex I deficiency, nuclear type 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28086"	"NDUFAF2"	"OMIM:618233"	"Mitochondrial complex I deficiency, nuclear type 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-13 13:31:05"	""	""	""	"PMID: 28106320"	"38306"	"2020-12-24"
"GENCC_000101-HGNC_29918-OMIM_618240-HP_0000007-GENCC_100003"	"HGNC:29918"	"NDUFAF3"	"MONDO:0032623"	"mitochondrial complex 1 deficiency, nuclear type 18"	"OMIM:618240"	"Mitochondrial complex I deficiency, nuclear type 18"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29918"	"NDUFAF3"	"OMIM:618240"	"Mitochondrial complex I deficiency, nuclear type 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-25 13:31:05"	""	""	""	"PMID: 28106320"	"67387"	"2020-12-24"
"GENCC_000101-HGNC_7698-OMIM_618246-HP_0000007-GENCC_100003"	"HGNC:7698"	"NDUFB3"	"MONDO:0032629"	"mitochondrial complex 1 deficiency, nuclear type 25"	"OMIM:618246"	"Mitochondrial complex I deficiency, nuclear type 25"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7698"	"NDUFB3"	"OMIM:618246"	"Mitochondrial complex I deficiency, nuclear type 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:05"	""	""	""	"PMID: 28106320"	"0423"	"2020-12-24"
"GENCC_000101-HGNC_7708-OMIM_618228-HP_0000007-GENCC_100002"	"HGNC:7708"	"NDUFS2"	"MONDO:0032611"	"mitochondrial complex 1 deficiency, nuclear type 6"	"OMIM:618228"	"Mitochondrial complex I deficiency, nuclear type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7708"	"NDUFS2"	"OMIM:618228"	"Mitochondrial complex I deficiency, nuclear type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-15 13:31:05"	""	""	""	"PMID: 28106320"	"0462"	"2020-12-24"
"GENCC_000101-HGNC_7711-OMIM_252010-HP_0000007-GENCC_100003"	"HGNC:7711"	"NDUFS4"	"MONDO:0009640"	"mitochondrial complex I deficiency, nuclear type"	"OMIM:252010"	"Mitochondrial complex I deficiency, nuclear type 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7711"	"NDUFS4"	"OMIM:252010"	"Mitochondrial complex I deficiency, nuclear type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 13:31:06"	""	""	""	"PMID: 28106320"	"0460"	"2020-12-24"
"GENCC_000101-HGNC_19688-OMIM_613573-HP_0000007-GENCC_100003"	"HGNC:19688"	"NECTIN4"	"MONDO:0024565"	"ectodermal dysplasia-syndactyly syndrome 1"	"OMIM:613573"	"Ectodermal dysplasia-syndactyly syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19688"	"NECTIN4"	"OMIM:613573"	"Ectodermal dysplasia-syndactyly syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:31:06"	""	""	""	"PMID: 28106320"	"58124"	"2020-12-24"
"GENCC_000101-HGNC_7745-OMIM_615565-HP_0000007-GENCC_100004"	"HGNC:7745"	"NEK2"	"MONDO:0014256"	"retinitis pigmentosa 67"	"OMIM:615565"	"?Retinitis pigmentosa 67"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7745"	"NEK2"	"OMIM:615565"	"Retinitis pigmentosa 67"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:06"	""	""	""	"PMID: 28106320"	"0478"	"2020-12-24"
"GENCC_000101-HGNC_7784-OMIM_613735-HP_0000006-GENCC_100002"	"HGNC:7784"	"NFIA"	"MONDO:0013396"	"chromosome 1p32-p31 deletion syndrome"	"OMIM:613735"	"Brain malformations with or without urinary tract defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7784"	"NFIA"	"OMIM:613735"	"Brain malformations with or without urinary tract defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-10-02 13:31:07"	""	""	""	"PMID: 28106320"	"0440"	"2020-12-24"
"GENCC_000101-HGNC_21576-OMIM_254780-HP_0000007-GENCC_100001"	"HGNC:21576"	"NHLRC1"	"MONDO:0009697"	"Lafora disease"	"OMIM:254780"	"Myoclonic epilepsy of Lafora 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21576"	"NHLRC1"	"OMIM:254780"	"Epilepsy, progressive myoclonic 2B (Lafora)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-14 13:31:07"	""	""	""	"PMID: 28106320"	"945550"	"2020-12-24"
"GENCC_000101-HGNC_14377-OMIM_613987-HP_0000007-GENCC_100003"	"HGNC:14377"	"NHP2"	"MONDO:0013519"	"dyskeratosis congenita, autosomal recessive 2"	"OMIM:613987"	"Dyskeratosis congenita, autosomal recessive 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14377"	"NHP2"	"OMIM:613987"	"Dyskeratosis congenita, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:07"	""	""	""	"PMID: 28106320"	"77178"	"2020-12-24"
"GENCC_000101-HGNC_28018-OMIM_612281-HP_0000007-GENCC_100001"	"HGNC:28018"	"NIPAL4"	"MONDO:0012847"	"autosomal recessive congenital ichthyosis 6"	"OMIM:612281"	"Ichthyosis, congenital, autosomal recessive 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28018"	"NIPAL4"	"OMIM:612281"	"Ichthyosis, congenital, autosomal recessive 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-12-28 13:31:07"	""	""	""	"PMID: 28106320"	"905395"	"2020-12-24"
"GENCC_000101-HGNC_2488-OMIM_108900-HP_0000006-GENCC_100002"	"HGNC:2488"	"NKX2-5"	"MONDO:0007173"	"atrial septal defect 7"	"OMIM:108900"	"Atrial septal defect 7, with or without AV conduction defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2488"	"NKX2-5"	"OMIM:108900"	"Atrial septal defect 7, with or without AV conduction defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:31:07"	""	""	""	"PMID: 28106320"	"8056"	"2020-12-24"
"GENCC_000101-HGNC_2488-OMIM_217095-HP_0032113-GENCC_100001"	"HGNC:2488"	"NKX2-5"	"MONDO:0016581"	"conotruncal heart malformations"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2488"	"NKX2-5"	"OMIM:217095"	"Conotruncal heart malformations, variable"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:07"	""	""	""	"PMID: 28106320"	"8056"	"2020-12-24"
"GENCC_000101-HGNC_2488-OMIM_225250-HP_0000006-GENCC_100003"	"HGNC:2488"	"NKX2-5"	"MONDO:0009154"	"hypothyroidism, congenital, nongoitrous, 5"	"OMIM:225250"	"Hypothyroidism, congenital nongoitrous, 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2488"	"NKX2-5"	"OMIM:225250"	"Hypothyroidism, congenital nongoitrous, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:07"	""	""	""	"PMID: 28106320"	"8056"	"2020-12-24"
"GENCC_000101-HGNC_951-OMIM_613330-HP_0000007-GENCC_100003"	"HGNC:951"	"NKX3-2"	"MONDO:0013228"	"spondylo-megaepiphyseal-metaphyseal dysplasia"	"OMIM:613330"	"Spondylo-megaepiphyseal-metaphyseal dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:951"	"NKX3-2"	"OMIM:613330"	"Spondylo-megaepiphyseal-metaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-26 13:31:08"	""	""	""	"PMID: 28106320"	"743"	"2020-12-24"
"GENCC_000101-HGNC_14291-OMIM_618830-HP_0000006-GENCC_100003"	"HGNC:14291"	"NLGN1"	"MONDO:0030004"	"autism, susceptibility to, 20"	"OMIM:618830"	"{Autism, susceptibility to, 20}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14291"	"NLGN1"	"OMIM:618830"	"Autism, susceptibility to, 20"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-31 13:31:08"	""	""	""	"PMID: 28106320"	"66548"	"2020-12-24"
"GENCC_000101-HGNC_16400-OMIM_148200-HP_0000006-GENCC_100004"	"HGNC:16400"	"NLRP3"	"MONDO:0007849"	"keratitis fugax hereditaria"	"OMIM:148200"	"Keratoendothelitis fugax hereditaria"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16400"	"NLRP3"	"OMIM:148200"	"Keratoendothelitis fugax hereditaria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-29 13:31:09"	""	""	""	"PMID: 28106320"	"880705"	"2020-12-24"
"GENCC_000101-HGNC_7863-OMIM_614736-HP_0000007-GENCC_100001"	"HGNC:7863"	"NNT"	"MONDO:0013874"	"glucocorticoid deficiency 4"	"OMIM:614736"	"Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7863"	"NNT"	"OMIM:614736"	"Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:09"	""	""	""	"PMID: 28106320"	"69792"	"2020-12-24"
"GENCC_000101-HGNC_7905-OMIM_609583-HP_0000007-GENCC_100003"	"HGNC:7905"	"NPHP1"	"MONDO:0012308"	"Joubert syndrome with renal defect"	"OMIM:609583"	"Joubert syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7905"	"NPHP1"	"OMIM:609583"	"Joubert syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-03 13:31:10"	""	""	""	"PMID: 28106320"	"0514"	"2020-12-24"
"GENCC_000101-HGNC_7939-OMIM_612201-HP_0000006-GENCC_100003"	"HGNC:7939"	"NPPA"	"MONDO:0012816"	"atrial fibrillation, familial, 6"	"OMIM:612201"	"Atrial fibrillation, familial, 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7939"	"NPPA"	"OMIM:612201"	"Atrial fibrillation, familial, 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:31:11"	""	""	""	"PMID: 28106320"	"0545"	"2020-12-24"
"GENCC_000101-HGNC_24969-OMIM_617116-HP_0000006-GENCC_100003"	"HGNC:24969"	"NPRL2"	"MONDO:0014924"	"epilepsy, familial focal, with variable foci 2"	"OMIM:617116"	"Epilepsy, familial focal, with variable foci 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24969"	"NPRL2"	"OMIM:617116"	"Epilepsy, familial focal, with variable foci 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:11"	""	""	""	"PMID: 28106320"	"82108"	"2020-12-24"
"GENCC_000101-HGNC_7978-OMIM_615962-HP_0000006-GENCC_100002"	"HGNC:7978"	"NR3C1"	"MONDO:0014421"	"glucocorticoid resistance"	"OMIM:615962"	"Glucocorticoid resistance"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7978"	"NR3C1"	"OMIM:615962"	"Glucocorticoid resistance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-12 13:31:12"	""	""	""	"PMID: 28106320"	"6325"	"2020-12-24"
"GENCC_000101-HGNC_7979-OMIM_177735-HP_0000006-GENCC_100001"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"OMIM:177735"	"Pseudohypoaldosteronism type I, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7979"	"NR3C2"	"OMIM:177735"	"Pseudohypoaldosteronism type I, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-03-29 00:00:00"	""	""	""	"PMID: 28106320"	"0921"	"2020-12-24"
"GENCC_000101-HGNC_8008-OMIM_614325-HP_0000007-GENCC_100003"	"HGNC:8008"	"NRXN1"	"MONDO:0013690"	"Pitt-Hopkins-like syndrome 2"	"OMIM:614325"	"Pitt-Hopkins-like syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8008"	"NRXN1"	"OMIM:614325"	"Pitt-Hopkins-like syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-15 13:31:13"	""	""	""	"PMID: 28106320"	"3945"	"2020-12-24"
"GENCC_000101-HGNC_14234-OMIM_117550-HP_0000006-GENCC_100001"	"HGNC:14234"	"NSD1"	"MONDO:0007299"	"Sotos syndrome 1"	"OMIM:117550"	"Sotos syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14234"	"NSD1"	"OMIM:117550"	"Sotos syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-08-02 00:00:00"	""	""	""	"PMID: 28106320"	"10960"	"2020-12-24"
"GENCC_000101-HGNC_25994-OMIM_611091-HP_0000007-GENCC_100003"	"HGNC:25994"	"NSUN2"	"MONDO:0012613"	"intellectual disability, autosomal recessive 5"	"OMIM:611091"	"Intellectual developmental disorder, autosomal recessive 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25994"	"NSUN2"	"OMIM:611091"	"Mental retardation, autosomal recessive 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:13"	""	""	""	"PMID: 28106320"	"70555"	"2020-12-24"
"GENCC_000101-HGNC_18016-OMIM_618349-HP_0000007-GENCC_100004"	"HGNC:18016"	"NUP133"	"MONDO:0032693"	"Galloway-Mowat syndrome 8"	"OMIM:618349"	"?Galloway-Mowat syndrome 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18016"	"NUP133"	"OMIM:618349"	"Galloway-Mowat syndrome 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-09 13:31:13"	""	""	""	"PMID: 28106320"	"77401"	"2020-12-24"
"GENCC_000101-HGNC_8063-OMIM_615770-HP_0000007-GENCC_100004"	"HGNC:8063"	"NUP155"	"MONDO:0014340"	"atrial fibrillation, familial, 15"	"OMIM:615770"	"?Atrial fibrillation 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8063"	"NUP155"	"OMIM:615770"	"Atrial fibrillation 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-04 13:31:13"	""	""	""	"PMID: 28106320"	"3198"	"2020-12-24"
"GENCC_000101-HGNC_8104-OMIM_251290-HP_0000007-GENCC_100003"	"HGNC:8104"	"OCLN"	"MONDO:0020789"	"pseudo-TORCH syndrome 1"	"OMIM:251290"	"Pseudo-TORCH syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8104"	"OCLN"	"OMIM:251290"	"Pseudo-TORCH syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-14 13:31:13"	""	""	""	"PMID: 28106320"	"822721175"	"2020-12-24"
"GENCC_000101-HGNC_8140-OMIM_616896-HP_0000007-GENCC_100002"	"HGNC:8140"	"OPA1"	"MONDO:0014820"	"mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)"	"OMIM:616896"	"?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8140"	"OPA1"	"OMIM:616896"	"Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-03 13:31:14"	""	""	""	"PMID: 28106320"	"0341"	"2020-12-24"
"GENCC_000101-HGNC_8140-OMIM_165500-HP_0000006-GENCC_100001"	"HGNC:8140"	"OPA1"	"MONDO:0008134"	"autosomal dominant optic atrophy, classic form"	"OMIM:165500"	"Optic atrophy 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8140"	"OPA1"	"OMIM:165500"	"Optic atrophy 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-11-16 00:00:00"	""	""	""	"PMID: 28106320"	"0341"	"2020-12-24"
"GENCC_000101-HGNC_8487-OMIM_224690-HP_0000007-GENCC_100002"	"HGNC:8487"	"ORC1"	"MONDO:0009143"	"Meier-Gorlin syndrome 1"	"OMIM:224690"	"Meier-Gorlin syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8487"	"ORC1"	"OMIM:224690"	"Meier-Gorlin syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-05-20 13:31:15"	""	""	""	"PMID: 28106320"	"0335"	"2020-12-24"
"GENCC_000101-HGNC_8490-OMIM_613800-HP_0000007-GENCC_100003"	"HGNC:8490"	"ORC4"	"MONDO:0013428"	"Meier-Gorlin syndrome 2"	"OMIM:613800"	"Meier-Gorlin syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8490"	"ORC4"	"OMIM:613800"	"Meier-Gorlin syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65190"	"2023-08-19"
"GENCC_000101-HGNC_8507-OMIM_105250-HP_0032113-GENCC_100003"	"HGNC:8507"	"OSMR"	"MONDO:0024522"	"amyloidosis, primary localized cutaneous, 1"	"OMIM:105250"	"Amyloidosis, primary localized cutaneous, 1"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8507"	"OSMR"	"OMIM:105250"	"Amyloidosis, primary localized cutaneous, 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-05 13:31:15"	""	""	""	"PMID: 28106320"	"3852"	"2020-12-24"
"GENCC_000101-HGNC_8527-OMIM_245050-HP_0000007-GENCC_100002"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"OMIM:245050"	"Succinyl CoA:3-oxoacid CoA transferase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8527"	"OXCT1"	"OMIM:245050"	"Succinyl CoA:3-oxoacid CoA transferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-09 13:31:15"	""	""	""	"PMID: 28106320"	"7283"	"2020-12-24"
"GENCC_000101-HGNC_19317-OMIM_614292-HP_0000007-GENCC_100003"	"HGNC:19317"	"P3H2"	"MONDO:0013670"	"myopia, high, with cataract and vitreoretinal degeneration"	"OMIM:614292"	"Myopia, high, with cataract and vitreoretinal degeneration"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19317"	"P3H2"	"OMIM:614292"	"Myopia, high, with cataract and vitreoretinal degeneration"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-05 13:31:15"	""	""	""	"PMID: 28106320"	"77680"	"2020-12-24"
"GENCC_000101-HGNC_8547-OMIM_617238-HP_0000006-GENCC_100004"	"HGNC:8547"	"P4HA2"	"MONDO:0014982"	"myopia 25, autosomal dominant"	"OMIM:617238"	"Myopia 25, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8547"	"P4HA2"	"OMIM:617238"	"Myopia 25, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-25 13:31:16"	""	""	""	"PMID: 28106320"	"5340"	"2020-12-24"
"GENCC_000101-HGNC_28858-OMIM_618493-HP_0000007-GENCC_100003"	"HGNC:28858"	"P4HTM"	"MONDO:0032780"	"hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities"	"OMIM:618493"	"Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28858"	"P4HTM"	"OMIM:618493"	"Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-11-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11584"	"2023-08-19"
"GENCC_000101-HGNC_18337-OMIM_191480-HP_0000007-GENCC_100003"	"HGNC:18337"	"PADI3"	"MONDO:0020736"	"uncombable hair syndrome 1"	"OMIM:191480"	"Uncombable hair syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18337"	"PADI3"	"OMIM:191480"	"Uncombable hair syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-24 13:31:17"	""	""	""	"PMID: 28106320"	"78426"	"2020-12-24"
"GENCC_000101-HGNC_8657-OMIM_251280-HP_0000007-GENCC_100002"	"HGNC:8657"	"PCDH12"	"MONDO:0009625"	"diencephalic-mesencephalic junction dysplasia syndrome 1"	"OMIM:251280"	"Diencephalic-mesencephalic junction dysplasia syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8657"	"PCDH12"	"OMIM:251280"	"Diencephalic-mesencephalic junction dysplasia syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-06-18 13:31:17"	""	""	""	"PMID: 28106320"	"78630"	"2020-12-24"
"GENCC_000101-HGNC_8743-OMIM_600955-HP_0000007-GENCC_100001"	"HGNC:8743"	"PCSK1"	"MONDO:0010961"	"obesity due to prohormone convertase I deficiency"	"OMIM:600955"	"Endocrinopathy due to proprotein convertase 1/3 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8743"	"PCSK1"	"OMIM:600955"	"Obesity with impaired prohormone processing"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-17 13:31:18"	""	""	""	"PMID: 28106320"	"7866"	"2020-12-24"
"GENCC_000101-HGNC_8783-OMIM_614613-HP_0000006-GENCC_100003"	"HGNC:8783"	"PDE4D"	"MONDO:0013822"	"acrodysostosis 2 with or without hormone resistance"	"OMIM:614613"	"Acrodysostosis 2, with or without hormone resistance"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8783"	"PDE4D"	"OMIM:614613"	"Acrodysostosis 2, with or without hormone resistance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-21 13:31:18"	""	""	""	"PMID: 28106320"	"7800"	"2020-12-24"
"GENCC_000101-HGNC_8788-OMIM_615665-HP_0000007-GENCC_100003"	"HGNC:8788"	"PDE6D"	"MONDO:0014297"	"Joubert syndrome 22"	"OMIM:615665"	"Joubert syndrome 22"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8788"	"PDE6D"	"OMIM:615665"	"Joubert syndrome 22"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-16 13:31:19"	""	""	""	"PMID: 28106320"	"7804"	"2020-12-24"
"GENCC_000101-HGNC_8804-OMIM_615007-HP_0000006-GENCC_100003"	"HGNC:8804"	"PDGFRB"	"MONDO:0014004"	"basal ganglia calcification, idiopathic, 4"	"OMIM:615007"	"Basal ganglia calcification, idiopathic, 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8804"	"PDGFRB"	"OMIM:615007"	"Basal ganglia calcification, idiopathic, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-09-29 00:00:00"	""	""	""	"PMID: 28106320"	"7873"	"2020-12-24"
"GENCC_000101-HGNC_8804-OMIM_616592-HP_0000006-GENCC_100003"	"HGNC:8804"	"PDGFRB"	"MONDO:0014704"	"skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"	"OMIM:616592"	"Kosaki overgrowth syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8804"	"PDGFRB"	"OMIM:616592"	"Kosaki overgrowth syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-15 13:31:19"	""	""	""	"PMID: 28106320"	"7873"	"2020-12-24"
"GENCC_000101-HGNC_8808-OMIM_614111-HP_0000007-GENCC_100003"	"HGNC:8808"	"PDHB"	"MONDO:0013580"	"pyruvate dehydrogenase E1-beta deficiency"	"OMIM:614111"	"Pyruvate dehydrogenase E1-beta deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8808"	"PDHB"	"OMIM:614111"	"Pyruvate dehydrogenase E1-beta deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:19"	""	""	""	"PMID: 28106320"	"7816"	"2020-12-24"
"GENCC_000101-HGNC_8851-OMIM_614871-HP_0000007-GENCC_100003"	"HGNC:8851"	"PEX10"	"MONDO:0013937"	"peroxisome biogenesis disorder 6B"	"OMIM:614871"	"Peroxisome biogenesis disorder 6B"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8851"	"PEX10"	"OMIM:614871"	"Peroxisome biogenesis disorder 6B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:20"	""	""	""	"PMID: 28106320"	"7836"	"2020-12-24"
"GENCC_000101-HGNC_8851-OMIM_614870-HP_0000007-GENCC_100002"	"HGNC:8851"	"PEX10"	"MONDO:0013936"	"peroxisome biogenesis disorder 6A (Zellweger)"	"OMIM:614870"	"Peroxisome biogenesis disorder 6A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8851"	"PEX10"	"OMIM:614870"	"Peroxisome biogenesis disorder 6A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:31:20"	""	""	""	"PMID: 28106320"	"7836"	"2020-12-24"
"GENCC_000101-HGNC_8853-OMIM_614920-HP_0000007-GENCC_100002"	"HGNC:8853"	"PEX11B"	"MONDO:0013967"	"peroxisome biogenesis disorder 14B"	"OMIM:614920"	"Peroxisome biogenesis disorder 14B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8853"	"PEX11B"	"OMIM:614920"	"Peroxisome biogenesis disorder 14B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-10-23 13:31:20"	""	""	""	"PMID: 28106320"	"5433"	"2020-12-24"
"GENCC_000101-HGNC_8856-OMIM_614887-HP_0000007-GENCC_100003"	"HGNC:8856"	"PEX14"	"MONDO:0013952"	"peroxisome biogenesis disorder 13A (Zellweger)"	"OMIM:614887"	"Peroxisome biogenesis disorder 13A (Zellweger)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8856"	"PEX14"	"OMIM:614887"	"Peroxisome biogenesis disorder 13A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-04 13:31:20"	""	""	""	"PMID: 28106320"	"7837"	"2020-12-24"
"GENCC_000101-HGNC_8905-OMIM_614921-HP_0000007-GENCC_100002"	"HGNC:8905"	"PGM1"	"MONDO:0013968"	"PGM1-congenital disorder of glycosylation"	"OMIM:614921"	"Congenital disorder of glycosylation, type It"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8905"	"PGM1"	"OMIM:614921"	"Congenital disorder of glycosylation, type It"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:31:20"	""	""	""	"PMID: 28106320"	"7691"	"2020-12-24"
"GENCC_000101-HGNC_8960-OMIM_617816-HP_0000007-GENCC_100004"	"HGNC:8960"	"PIGC"	"MONDO:0040500"	"glycosylphosphatidylinositol biosynthesis defect 16"	"OMIM:617816"	"Glycosylphosphatidylinositol biosynthesis defect 16"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8960"	"PIGC"	"OMIM:617816"	"Glycosylphosphatidylinositol biosynthesis defect 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:31:21"	""	""	""	"PMID: 28106320"	"7643"	"2020-12-24"
"GENCC_000101-HGNC_8965-OMIM_618879-HP_0000007-GENCC_100003"	"HGNC:8965"	"PIGK"	"MONDO:0030037"	"neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	"OMIM:618879"	"Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8965"	"PIGK"	"OMIM:618879"	"Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-05 13:31:21"	""	""	""	"PMID: 28106320"	"82261"	"2020-12-24"
"GENCC_000101-HGNC_26031-OMIM_239300-HP_0000007-GENCC_100003"	"HGNC:26031"	"PIGV"	"MONDO:0009398"	"hyperphosphatasia with intellectual disability syndrome 1"	"OMIM:239300"	"Hyperphosphatasia with impaired intellectual development syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26031"	"PIGV"	"OMIM:239300"	"Hyperphosphatasia with mental retardation syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-12 13:31:21"	""	""	""	"PMID: 28106320"	"77172"	"2020-12-24"
"GENCC_000101-HGNC_28213-OMIM_616809-HP_0000007-GENCC_100004"	"HGNC:28213"	"PIGY"	"MONDO:0014780"	"hyperphosphatasia with intellectual disability syndrome 6"	"OMIM:616809"	"Hyperphosphatasia with impaired intellectual development syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28213"	"PIGY"	"OMIM:616809"	"Hyperphosphatasia with mental retardation syndrome 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-24 13:31:21"	""	""	""	"PMID: 28106320"	"50336"	"2020-12-24"
"GENCC_000101-HGNC_8975-OMIM_602501-HP_0000006-GENCC_100002"	"HGNC:8975"	"PIK3CA"	"MONDO:0011240"	"megalencephaly-capillary malformation-polymicrogyria syndrome"	"OMIM:602501"	"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8975"	"PIK3CA"	"OMIM:602501"	"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-28 13:31:21"	""	""	""	"PMID: 28106320"	"7632"	"2020-12-24"
"GENCC_000101-HGNC_8979-OMIM_616005-HP_0000006-GENCC_100001"	"HGNC:8979"	"PIK3R1"	"MONDO:0014453"	"immunodeficiency 36"	"OMIM:616005"	"Immunodeficiency 36"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8979"	"PIK3R1"	"OMIM:616005"	"Immunodeficiency 36"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-05 13:31:22"	""	""	""	"PMID: 28106320"	"7637"	"2020-12-24"
"GENCC_000101-HGNC_8979-OMIM_269880-HP_0000006-GENCC_100003"	"HGNC:8979"	"PIK3R1"	"MONDO:0010026"	"SHORT syndrome"	"OMIM:269880"	"SHORT syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8979"	"PIK3R1"	"OMIM:269880"	"SHORT syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-05 13:31:22"	""	""	""	"PMID: 28106320"	"7637"	"2020-12-24"
"GENCC_000101-HGNC_14581-OMIM_605909-HP_0000007-GENCC_100001"	"HGNC:14581"	"PINK1"	"MONDO:0011613"	"autosomal recessive early-onset Parkinson disease 6"	"OMIM:605909"	"Parkinson disease 6, early onset"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14581"	"PINK1"	"OMIM:605909"	"Parkinson disease 6, early onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-01 13:31:22"	""	""	""	"PMID: 28106320"	"17285"	"2020-12-24"
"GENCC_000101-HGNC_25123-OMIM_618821-HP_0000007-GENCC_100002"	"HGNC:25123"	"PKDCC"	"MONDO:0032935"	"rhizomelic limb shortening with dysmorphic features"	"OMIM:618821"	"Rhizomelic limb shortening with dysmorphic features"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25123"	"PKDCC"	"OMIM:618821"	"Rhizomelic limb shortening with dysmorphic features"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-06-28 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11429"	"2024-01-02"
"GENCC_000101-HGNC_9023-OMIM_604536-HP_0000007-GENCC_100002"	"HGNC:9023"	"PKP1"	"MONDO:0011472"	"epidermolysis bullosa simplex due to plakophilin deficiency"	"OMIM:604536"	"Ectodermal dysplasia/skin fragility syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9023"	"PKP1"	"OMIM:604536"	"Ectodermal dysplasia/skin fragility syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-19 13:31:23"	""	""	""	"PMID: 28106320"	"7984"	"2020-12-24"
"GENCC_000101-HGNC_9067-OMIM_212093-HP_0000007-GENCC_100003"	"HGNC:9067"	"PLD1"	"MONDO:0008913"	"cardiac valvular defect, developmental"	"OMIM:212093"	"Cardiac valvular dysplasia 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9067"	"PLD1"	"OMIM:212093"	"Cardiac valvular defect, developmental"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-18 13:31:23"	""	""	""	"PMID: 28106320"	"7994"	"2020-12-24"
"GENCC_000101-HGNC_29105-OMIM_611067-HP_0000007-GENCC_100004"	"HGNC:29105"	"PLEKHG5"	"MONDO:0012608"	"neuronopathy, distal hereditary motor, autosomal recessive 4"	"OMIM:611067"	"Neuronopathy, distal hereditary motor, autosomal recessive 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29105"	"PLEKHG5"	"OMIM:611067"	"Spinal muscular atrophy, distal, autosomal recessive, 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-07-23 13:31:24"	""	""	""	"PMID: 28106320"	"74003"	"2020-12-24"
"GENCC_000101-HGNC_29105-OMIM_615376-HP_0000007-GENCC_100003"	"HGNC:29105"	"PLEKHG5"	"MONDO:0014154"	"Charcot-Marie-Tooth disease recessive intermediate C"	"OMIM:615376"	"Charcot-Marie-Tooth disease, recessive intermediate C"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29105"	"PLEKHG5"	"OMIM:615376"	"Charcot-Marie-Tooth disease, recessive intermediate C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-07-23 13:31:24"	""	""	""	"PMID: 28106320"	"74003"	"2020-12-24"
"GENCC_000101-HGNC_9090-OMIM_618787-HP_0000006-GENCC_100003"	"HGNC:9090"	"PLS1"	"MONDO:0032917"	"hearing loss, autosomal dominant 76"	"OMIM:618787"	"Deafness, autosomal dominant 76"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9090"	"PLS1"	"OMIM:618787"	"Deafness, autosomal dominant 76"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-21 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11325"	"2025-01-17"
"GENCC_000101-HGNC_9141-OMIM_175800-HP_0000006-GENCC_100003"	"HGNC:9141"	"PMVK"	"MONDO:0008290"	"porokeratosis 1, Mibelli type"	"OMIM:175800"	"Porokeratosis 1, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9141"	"PMVK"	"OMIM:175800"	"Porokeratosis 1, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:25"	""	""	""	"PMID: 28106320"	"82170"	"2020-12-24"
"GENCC_000101-HGNC_21246-OMIM_615024-HP_0000007-GENCC_100003"	"HGNC:21246"	"PNPLA1"	"MONDO:0014011"	"autosomal recessive congenital ichthyosis 10"	"OMIM:615024"	"Ichthyosis, congenital, autosomal recessive 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21246"	"PNPLA1"	"OMIM:615024"	"Ichthyosis, congenital, autosomal recessive 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:25"	""	""	""	"PMID: 28106320"	"657505"	"2020-12-24"
"GENCC_000101-HGNC_23166-OMIM_614932-HP_0000007-GENCC_100002"	"HGNC:23166"	"PNPT1"	"MONDO:0013977"	"combined oxidative phosphorylation defect type 13"	"OMIM:614932"	"Combined oxidative phosphorylation deficiency 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23166"	"PNPT1"	"OMIM:614932"	"Combined oxidative phosphorylation deficiency 13"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-01-04 13:31:25"	""	""	""	"PMID: 28106320"	"54845"	"2020-12-24"
"GENCC_000101-HGNC_20194-OMIM_616494-HP_0000007-GENCC_100002"	"HGNC:20194"	"POLR1C"	"MONDO:0014666"	"hypomyelinating leukodystrophy 11"	"OMIM:616494"	"Leukodystrophy, hypomyelinating, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20194"	"POLR1C"	"OMIM:616494"	"Leukodystrophy, hypomyelinating, 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-14 13:31:26"	""	""	""	"PMID: 28106320"	"3799"	"2020-12-24"
"GENCC_000101-HGNC_20194-OMIM_248390-HP_0000007-GENCC_100003"	"HGNC:20194"	"POLR1C"	"MONDO:0009558"	"Treacher Collins syndrome 3"	"OMIM:248390"	"Treacher Collins syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20194"	"POLR1C"	"OMIM:248390"	"Treacher Collins syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-01-27 00:00:00"	""	""	""	"PMID: 28106320"	"3799"	"2020-12-24"
"GENCC_000101-HGNC_9201-OMIM_601665-HP_0032113-GENCC_100002"	"HGNC:9201"	"POMC"	"MONDO:0019182"	"inherited obesity"	"OMIM:601665"	"{Obesity, late-onset}"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9201"	"POMC"	"OMIM:601665"	"Obesity, early-onset, susceptibility to"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:31:26"	""	""	""	"PMID: 28106320"	"7009"	"2020-12-24"
"GENCC_000101-HGNC_9201-OMIM_609734-HP_0000007-GENCC_100003"	"HGNC:9201"	"POMC"	"MONDO:0012335"	"obesity due to pro-opiomelanocortin deficiency"	"OMIM:609734"	"Obesity, adrenal insufficiency, and red hair due to POMC deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9201"	"POMC"	"OMIM:609734"	"Obesity, adrenal insufficiency, and red hair due to POMC deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-03-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65021"	"2023-08-19"
"GENCC_000101-HGNC_19139-OMIM_613157-HP_0000007-GENCC_100004"	"HGNC:19139"	"POMGNT1"	"MONDO:0013161"	"autosomal recessive limb-girdle muscular dystrophy type 2O"	"OMIM:613157"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19139"	"POMGNT1"	"OMIM:613157"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:26"	""	""	""	"PMID: 28106320"	"77160"	"2020-12-24"
"GENCC_000101-HGNC_19139-OMIM_613151-HP_0000007-GENCC_100004"	"HGNC:19139"	"POMGNT1"	"MONDO:0013155"	"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3"	"OMIM:613151"	"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19139"	"POMGNT1"	"OMIM:613151"	"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:27"	""	""	""	"PMID: 28106320"	"77160"	"2020-12-24"
"GENCC_000101-HGNC_19139-OMIM_253280-HP_0000007-GENCC_100001"	"HGNC:19139"	"POMGNT1"	"MONDO:0009667"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3"	"OMIM:253280"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19139"	"POMGNT1"	"OMIM:253280"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:27"	""	""	""	"PMID: 28106320"	"77160"	"2020-12-24"
"GENCC_000101-HGNC_19139-OMIM_617123-HP_0000007-GENCC_100004"	"HGNC:19139"	"POMGNT1"	"MONDO:0014929"	"retinitis pigmentosa 76"	"OMIM:617123"	"Retinitis pigmentosa 76"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19139"	"POMGNT1"	"OMIM:617123"	"Retinitis pigmentosa 76"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:27"	""	""	""	"PMID: 28106320"	"77160"	"2020-12-24"
"GENCC_000101-HGNC_25902-OMIM_614830-HP_0000007-GENCC_100003"	"HGNC:25902"	"POMGNT2"	"MONDO:0013904"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8"	"OMIM:614830"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25902"	"POMGNT2"	"OMIM:614830"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:27"	""	""	""	"PMID: 28106320"	"50536"	"2020-12-24"
"GENCC_000101-HGNC_9210-OMIM_613038-HP_0032113-GENCC_100001"	"HGNC:9210"	"POU1F1"	"MONDO:0024464"	"pituitary hormone deficiency, combined, 1"	"OMIM:613038"	"Pituitary hormone deficiency, combined or isolated, 1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9210"	"POU1F1"	"OMIM:613038"	"Pituitary hormone deficiency, combined, 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:28"	""	""	""	"PMID: 28106320"	"7003"	"2020-12-24"
"GENCC_000101-HGNC_9216-OMIM_618604-HP_0000006-GENCC_100002"	"HGNC:9216"	"POU3F3"	"MONDO:0032830"	"snijders blok-fisher syndrome"	"OMIM:618604"	"Snijders Blok-Fisher syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9216"	"POU3F3"	"OMIM:618604"	"Snijders Blok-Fisher syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-06-21 13:31:28"	""	""	""	"PMID: 28106320"	"7077"	"2020-12-24"
"GENCC_000101-HGNC_9236-OMIM_604367-HP_0000006-GENCC_100001"	"HGNC:9236"	"PPARG"	"MONDO:0011448"	"PPARG-related familial partial lipodystrophy"	"OMIM:604367"	"Lipodystrophy, familial partial, type 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9236"	"PPARG"	"OMIM:604367"	"Lipodystrophy, familial partial, type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:28"	""	""	""	"PMID: 28106320"	"7015"	"2020-12-24"
"GENCC_000101-HGNC_25686-OMIM_618189-HP_0000007-GENCC_100003"	"HGNC:25686"	"PPCS"	"MONDO:0032592"	"cardiomyopathy, dilated, 2c"	"OMIM:618189"	"Cardiomyopathy, dilated, 2C"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25686"	"PPCS"	"OMIM:618189"	"Cardiomyopathy, dilated, 2C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-07 13:31:29"	""	""	""	"PMID: 28106320"	"43484"	"2020-12-24"
"GENCC_000101-HGNC_29035-OMIM_618422-HP_0000007-GENCC_100004"	"HGNC:29035"	"PPIP5K2"	"MONDO:0032740"	"hearing loss, autosomal recessive 100"	"OMIM:618422"	"Deafness, autosomal recessive 100"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29035"	"PPIP5K2"	"OMIM:618422"	"Deafness, autosomal recessive 100"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-02 13:31:29"	""	""	""	"PMID: 28106320"	"69616"	"2020-12-24"
"GENCC_000101-HGNC_9299-OMIM_618354-HP_0000006-GENCC_100003"	"HGNC:9299"	"PPP2CA"	"MONDO:0032697"	"Houge-Janssens syndrome 3"	"OMIM:618354"	"Houge-Janssens syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9299"	"PPP2CA"	"OMIM:618354"	"Neurodevelopmental disorder and language delay with or without structural brain abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-03 13:31:29"	""	""	""	"PMID: 28106320"	"7787"	"2020-12-24"
"GENCC_000101-HGNC_9314-OMIM_617711-HP_0000006-GENCC_100003"	"HGNC:9314"	"PPP3CA"	"MONDO:0020630"	"developmental and epileptic encephalopathy 91"	"OMIM:617711"	"Developmental and epileptic encephalopathy 91"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9314"	"PPP3CA"	"OMIM:617711"	"Epileptic encephalopathy, infantile or early childhood, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-21 13:31:30"	""	""	""	"PMID: 28106320"	"7792"	"2020-12-24"
"GENCC_000101-HGNC_9314-OMIM_618265-HP_0000006-GENCC_100004"	"HGNC:9314"	"PPP3CA"	"MONDO:0032642"	"arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"	"OMIM:618265"	"Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9314"	"PPP3CA"	"OMIM:618265"	"Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-22 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11077"	"2025-01-17"
"GENCC_000101-HGNC_14000-OMIM_615373-HP_0000006-GENCC_100003"	"HGNC:14000"	"PRDM16"	"MONDO:0014152"	"left ventricular noncompaction 8"	"OMIM:615373"	"Cardiomyopathy, dilated, 1LL"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14000"	"PRDM16"	"OMIM:615373"	"Cardiomyopathy, dilated, 1LL"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78942"	"2023-08-19"
"GENCC_000101-HGNC_9349-OMIM_614170-HP_0000007-GENCC_100003"	"HGNC:9349"	"PRDM5"	"MONDO:0013605"	"brittle cornea syndrome 2"	"OMIM:614170"	"Brittle cornea syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9349"	"PRDM5"	"OMIM:614170"	"Brittle cornea syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:31:31"	""	""	""	"PMID: 28106320"	"88824"	"2020-12-24"
"GENCC_000101-HGNC_30228-OMIM_616224-HP_0000007-GENCC_100003"	"HGNC:30228"	"PREPL"	"MONDO:0044299"	"myasthenic syndrome, congenital, 22"	"OMIM:616224"	"Myasthenic syndrome, congenital, 22"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30228"	"PREPL"	"OMIM:616224"	"Myasthenic syndrome, congenital, 22"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-14 13:31:31"	""	""	""	"PMID: 28106320"	"3758"	"2020-12-24"
"GENCC_000101-HGNC_9455-OMIM_262600-HP_0000007-GENCC_100002"	"HGNC:9455"	"PROP1"	"MONDO:0009878"	"pituitary hormone deficiency, combined, 2"	"OMIM:262600"	"Pituitary hormone deficiency, combined, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9455"	"PROP1"	"OMIM:262600"	"Pituitary hormone deficiency, combined, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:31:31"	""	""	""	"PMID: 28106320"	"7161"	"2020-12-24"
"GENCC_000101-HGNC_9456-OMIM_612336-HP_0032113-GENCC_100001"	"HGNC:9456"	"PROS1"	"MONDO:0012868"	"thrombophilia due to protein S deficiency, autosomal dominant"	"OMIM:612336"	"Thrombophilia 5 due to protein S deficiency, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9456"	"PROS1"	"OMIM:612336"	"Thrombophilia due to protein S deficiency, autosomal dominant"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-27 13:31:31"	""	""	""	"PMID: 28106320"	"7164"	"2020-12-24"
"GENCC_000101-HGNC_17348-OMIM_601414-HP_0000006-GENCC_100003"	"HGNC:17348"	"PRPF3"	"MONDO:0011075"	"retinitis pigmentosa 18"	"OMIM:601414"	"Retinitis pigmentosa 18"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17348"	"PRPF3"	"OMIM:601414"	"Retinitis pigmentosa 18"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-04 13:31:31"	""	""	""	"PMID: 28106320"	"3863"	"2020-12-24"
"GENCC_000101-HGNC_9942-OMIM_613105-HP_0000006-GENCC_100003"	"HGNC:9942"	"PRPH2"	"MONDO:0013137"	"choroidal dystrophy, central areolar 2"	"OMIM:613105"	"Choroidal dystrophy, central areolar 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9942"	"PRPH2"	"OMIM:613105"	"Choroidal dystrophy, central areolar 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-17 13:31:32"	""	""	""	"PMID: 28106320"	"7318"	"2020-12-24"
"GENCC_000101-HGNC_9942-OMIM_608133-HP_0032113-GENCC_100001"	"HGNC:9942"	"PRPH2"	"MONDO:0011974"	"retinitis pigmentosa 7"	"OMIM:608133"	"Retinitis pigmentosa 7, digenic form"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9942"	"PRPH2"	"OMIM:608133"	"Retinitis pigmentosa 7 and digenic form"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-17 13:31:32"	""	""	""	"PMID: 28106320"	"7318"	"2020-12-24"
"GENCC_000101-HGNC_9541-OMIM_617591-HP_0000007-GENCC_100004"	"HGNC:9541"	"PSMB4"	"MONDO:0054699"	"proteasome-associated autoinflammatory syndrome 3"	"OMIM:617591"	"?Proteasome-associated autoinflammatory syndrome 3 and digenic forms"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9541"	"PSMB4"	"OMIM:617591"	"Proteasome-associated autoinflammatory syndrome 3 and digenic forms"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:31:33"	""	""	""	"PMID: 28106320"	"7136"	"2020-12-24"
"GENCC_000101-HGNC_9545-OMIM_256040-HP_0000007-GENCC_100003"	"HGNC:9545"	"PSMB8"	"MONDO:0054698"	"proteasome-associated autoinflammatory syndrome 1"	"OMIM:256040"	"Proteasome-associated autoinflammatory syndrome 1 and digenic forms"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9545"	"PSMB8"	"OMIM:256040"	"Proteasome-associated autoinflammatory syndrome 1 and digenic forms"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:31:33"	""	""	""	"PMID: 28106320"	"7131"	"2020-12-24"
"GENCC_000101-HGNC_9546-OMIM_617591-HP_0000005-GENCC_100004"	"HGNC:9546"	"PSMB9"	"MONDO:0054699"	"proteasome-associated autoinflammatory syndrome 3"	"OMIM:617591"	"?Proteasome-associated autoinflammatory syndrome 3 and digenic forms"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9546"	"PSMB9"	"OMIM:617591"	"Proteasome-associated autoinflammatory syndrome 3, digenic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:31:33"	""	""	""	"PMID: 28106320"	"7135"	"2020-12-24"
"GENCC_000101-HGNC_9608-OMIM_600002-HP_0000007-GENCC_100004"	"HGNC:9608"	"PTH1R"	"MONDO:0010803"	"Eiken syndrome"	"OMIM:600002"	"Eiken syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9608"	"PTH1R"	"OMIM:600002"	"Eiken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-12 13:31:34"	""	""	""	"PMID: 28106320"	"7407"	"2020-12-24"
"GENCC_000101-HGNC_9647-OMIM_613611-HP_0000007-GENCC_100004"	"HGNC:9647"	"PTPN14"	"MONDO:0013324"	"lymphedema-posterior choanal atresia syndrome"	"OMIM:613611"	"Choanal atresia and lymphedema"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9647"	"PTPN14"	"OMIM:613611"	"Choanal atresia and lymphedema"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-16 13:31:34"	""	""	""	"PMID: 28106320"	"7450"	"2020-12-24"
"GENCC_000101-HGNC_9666-OMIM_608971-HP_0000007-GENCC_100003"	"HGNC:9666"	"PTPRC"	"MONDO:0012163"	"immunodeficiency 104"	"OMIM:608971"	"Immunodeficiency 104, severe combined"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9666"	"PTPRC"	"OMIM:608971"	"Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-17 13:31:34"	""	""	""	"PMID: 28106320"	"7455"	"2020-12-24"
"GENCC_000101-HGNC_14957-OMIM_617931-HP_0000006-GENCC_100004"	"HGNC:14957"	"PUM1"	"MONDO:0033482"	"spinocerebellar ataxia 47"	"OMIM:617931"	"Spinocerebellar ataxia 47"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14957"	"PUM1"	"OMIM:617931"	"Spinocerebellar ataxia 47"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-26 13:31:34"	""	""	""	"PMID: 28106320"	"3135"	"2020-12-24"
"GENCC_000101-HGNC_14966-OMIM_269400-HP_0000007-GENCC_100003"	"HGNC:14966"	"PXDN"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"OMIM:269400"	"Anterior segment dysgenesis 7, with sclerocornea"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14966"	"PXDN"	"OMIM:269400"	"Anterior segment dysgenesis 7, with sclerocornea"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:34"	""	""	""	"PMID: 28106320"	"4594"	"2020-12-24"
"GENCC_000101-HGNC_9816-OMIM_613078-HP_0000007-GENCC_100004"	"HGNC:9816"	"RAD50"	"MONDO:0013118"	"Nijmegen breakage syndrome-like disorder"	"OMIM:613078"	"Nijmegen breakage syndrome-like disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9816"	"RAD50"	"OMIM:613078"	"Nijmegen breakage syndrome-like disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:35"	""	""	""	"PMID: 28106320"	"82888"	"2020-12-24"
"GENCC_000101-HGNC_9829-OMIM_615916-HP_0000006-GENCC_100004"	"HGNC:9829"	"RAF1"	"MONDO:0014396"	"dilated cardiomyopathy 1NN"	"OMIM:615916"	"Cardiomyopathy, dilated, 1NN"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9829"	"RAF1"	"OMIM:615916"	"Cardiomyopathy, dilated, 1NN"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-12-12 13:31:35"	""	""	""	"PMID: 28106320"	"7530"	"2020-12-24"
"GENCC_000101-HGNC_9829-OMIM_611553-HP_0000006-GENCC_100002"	"HGNC:9829"	"RAF1"	"MONDO:0012690"	"Noonan syndrome 5"	"OMIM:611553"	"Noonan syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9829"	"RAF1"	"OMIM:611553"	"Noonan syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2015-12-16 00:00:00"	""	""	""	"PMID: 28106320"	"7530"	"2020-12-24"
"GENCC_000101-HGNC_9865-OMIM_615524-HP_0000006-GENCC_100003"	"HGNC:9865"	"RARB"	"MONDO:0014229"	"microphthalmia, syndromic 12"	"OMIM:615524"	"Microphthalmia, syndromic 12"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9865"	"RARB"	"OMIM:615524"	"Microphthalmia, syndromic 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:31:35"	""	""	""	"PMID: 28106320"	"7387"	"2020-12-24"
"GENCC_000101-HGNC_9871-OMIM_608354-HP_0000006-GENCC_100001"	"HGNC:9871"	"RASA1"	"MONDO:0020783"	"capillary malformation-arteriovenous malformation 1"	"OMIM:608354"	"Capillary malformation-arteriovenous malformation 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9871"	"RASA1"	"OMIM:608354"	"Capillary malformation-arteriovenous malformation 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:31:35"	""	""	""	"PMID: 28106320"	"7368"	"2020-12-24"
"GENCC_000101-HGNC_5724-OMIM_614814-HP_0000006-GENCC_100003"	"HGNC:5724"	"RBPJ"	"MONDO:0013895"	"Adams-Oliver syndrome 3"	"OMIM:614814"	"Adams-Oliver syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5724"	"RBPJ"	"OMIM:614814"	"Adams-Oliver syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:31:36"	""	""	""	"PMID: 28106320"	"9781"	"2020-12-24"
"GENCC_000101-HGNC_19689-OMIM_610612-HP_0000007-GENCC_100003"	"HGNC:19689"	"RD3"	"MONDO:0012525"	"Leber congenital amaurosis 12"	"OMIM:610612"	"Leber congenital amaurosis 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19689"	"RD3"	"OMIM:610612"	"Leber congenital amaurosis 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-05 13:31:36"	""	""	""	"PMID: 28106320"	"909297"	"2020-12-24"
"GENCC_000101-HGNC_25786-OMIM_614751-HP_0000006-GENCC_100004"	"HGNC:25786"	"REEP1"	"MONDO:0013884"	"neuronopathy, distal hereditary motor, type 5B"	"OMIM:614751"	"?Neuronopathy, distal hereditary motor, autosomal dominant 12"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25786"	"REEP1"	"OMIM:614751"	"Neuronopathy, distal hereditary motor, autosomal dominant 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-16 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74677"	"2024-01-02"
"GENCC_000101-HGNC_25786-OMIM_610250-HP_0000006-GENCC_100001"	"HGNC:25786"	"REEP1"	"MONDO:0012453"	"hereditary spastic paraplegia 31"	"OMIM:610250"	"Spastic paraplegia 31, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25786"	"REEP1"	"OMIM:610250"	"Spastic paraplegia 31, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-11-16 00:00:00"	""	""	""	"PMID: 28106320"	"17277"	"2020-12-24"
"GENCC_000101-HGNC_17975-OMIM_615625-HP_0032113-GENCC_100003"	"HGNC:17975"	"REEP2"	"MONDO:0014282"	"hereditary spastic paraplegia 72"	"OMIM:615625"	"Spastic paraplegia 72A, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17975"	"REEP2"	"OMIM:615625"	"Spastic paraplegia 72, autosomal dominant"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-12-18 13:31:38"	""	""	""	"PMID: 28106320"	"78925"	"2020-12-24"
"GENCC_000101-HGNC_9965-OMIM_616975-HP_0000006-GENCC_100002"	"HGNC:9965"	"RERE"	"MONDO:0014857"	"neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"	"OMIM:616975"	"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9965"	"RERE"	"OMIM:616975"	"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-11-01 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18889"	"2024-01-02"
"GENCC_000101-HGNC_9969-OMIM_614575-HP_0000007-GENCC_100003"	"HGNC:9969"	"RFC1"	"MONDO:0013809"	"cerebellar ataxia, neuropathy, and vestibular areflexia syndrome"	"OMIM:614575"	"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9969"	"RFC1"	"OMIM:614575"	"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-13 13:31:39"	""	""	""	"PMID: 28106320"	"7358"	"2020-12-24"
"GENCC_000101-HGNC_10012-OMIM_613731-HP_0032113-GENCC_100001"	"HGNC:10012"	"RHO"	"MONDO:0013395"	"retinitis pigmentosa 4"	"OMIM:613731"	"Retinitis pigmentosa 4, autosomal dominant or recessive"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10012"	"RHO"	"OMIM:613731"	"Retinitis pigmentosa 4, autosomal dominant or recessive"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:40"	""	""	""	"PMID: 28106320"	"1282"	"2020-12-24"
"GENCC_000101-HGNC_667-OMIM_618727-HP_0000005-GENCC_100004"	"HGNC:667"	"RHOA"	"MONDO:0032884"	"ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies"	"OMIM:618727"	"Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:667"	"RHOA"	"OMIM:618727"	"Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-30 13:31:40"	""	""	""	"PMID: 28106320"	"954"	"2020-12-24"
"GENCC_000101-HGNC_17282-OMIM_603649-HP_0000006-GENCC_100004"	"HGNC:17282"	"RIMS1"	"MONDO:0011355"	"cone-rod dystrophy 7"	"OMIM:603649"	"Cone-rod dystrophy 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17282"	"RIMS1"	"OMIM:603649"	"Cone-rod dystrophy 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:41"	""	""	""	"PMID: 28106320"	"66333"	"2020-12-24"
"GENCC_000101-HGNC_10050-OMIM_601518-HP_0000006-GENCC_100004"	"HGNC:10050"	"RNASEL"	"MONDO:0011098"	"prostate cancer, hereditary, 1"	"OMIM:601518"	"Prostate cancer 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10050"	"RNASEL"	"OMIM:601518"	"Prostate cancer 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:41"	""	""	""	"PMID: 28106320"	"1208"	"2020-12-24"
"GENCC_000101-HGNC_26661-OMIM_611943-HP_0000007-GENCC_100003"	"HGNC:26661"	"RNF168"	"MONDO:0012764"	"RIDDLE syndrome"	"OMIM:611943"	"RIDDLE syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26661"	"RNF168"	"OMIM:611943"	"RIDDLE syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:31:41"	""	""	""	"PMID: 28106320"	"817385"	"2020-12-24"
"GENCC_000101-HGNC_34016-OMIM_210710-HP_0000007-GENCC_100003"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0008871"	"microcephalic osteodysplastic primordial dwarfism type I"	"OMIM:210710"	"Microcephalic osteodysplastic primordial dwarfism, type I"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:34016"	"RNU4ATAC"	"OMIM:210710"	"Microcephalic osteodysplastic primordial dwarfism, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 13:31:41"	""	""	""	"PMID: 28106320"	"822878159"	"2020-12-24"
"GENCC_000101-HGNC_34016-OMIM_616651-HP_0000007-GENCC_100003"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0014722"	"Roifman syndrome"	"OMIM:616651"	"Roifman syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:34016"	"RNU4ATAC"	"OMIM:616651"	"Roifman syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 13:31:42"	""	""	""	"PMID: 28106320"	"822878159"	"2020-12-24"
"GENCC_000101-HGNC_34016-OMIM_226960-HP_0000007-GENCC_100004"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0009191"	"Lowry-Wood syndrome"	"OMIM:226960"	"Lowry-Wood syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:34016"	"RNU4ATAC"	"OMIM:226960"	"Lowry-Wood syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-03 13:31:42"	""	""	""	"PMID: 28106320"	"822878159"	"2020-12-24"
"GENCC_000101-HGNC_10250-OMIM_610878-HP_0000006-GENCC_100002"	"HGNC:10250"	"ROBO2"	"MONDO:0012573"	"vesicoureteral reflux 2"	"OMIM:610878"	"Vesicoureteral reflux 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10250"	"ROBO2"	"OMIM:610878"	"Vesicoureteral reflux 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-04 13:31:43"	""	""	""	"PMID: 28106320"	"1236"	"2020-12-24"
"GENCC_000101-HGNC_10256-OMIM_617654-HP_0000007-GENCC_100004"	"HGNC:10256"	"ROR1"	"MONDO:0033200"	"hearing loss, autosomal recessive 108"	"OMIM:617654"	"?Deafness, autosomal recessive 108"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10256"	"ROR1"	"OMIM:617654"	"Deafness, autosomal recessive 108"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:43"	""	""	""	"PMID: 28106320"	"0383"	"2020-12-24"
"GENCC_000101-HGNC_10260-OMIM_616622-HP_0000007-GENCC_100003"	"HGNC:10260"	"RORC"	"MONDO:0014710"	"autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"	"OMIM:616622"	"Immunodeficiency 42"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10260"	"RORC"	"OMIM:616622"	"Immunodeficiency 42"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-24 13:31:44"	""	""	""	"PMID: 28106320"	"1234"	"2020-12-24"
"GENCC_000101-HGNC_10297-OMIM_608611-HP_0000007-GENCC_100003"	"HGNC:10297"	"RPIA"	"MONDO:0012073"	"ribose-5-P isomerase deficiency"	"OMIM:608611"	"Ribose 5-phosphate isomerase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10297"	"RPIA"	"OMIM:608611"	"Ribose 5-phosphate isomerase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-26 13:31:44"	""	""	""	"PMID: 28106320"	"66390"	"2020-12-24"
"GENCC_000101-HGNC_10383-OMIM_613308-HP_0000006-GENCC_100002"	"HGNC:10383"	"RPS10"	"MONDO:0013216"	"Diamond-Blackfan anemia 9"	"OMIM:613308"	"Diamond-Blackfan anemia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10383"	"RPS10"	"OMIM:613308"	"Diamond-Blackfan anemia 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:31:44"	""	""	""	"PMID: 28106320"	"1620"	"2020-12-24"
"GENCC_000101-HGNC_21057-OMIM_612650-HP_0000007-GENCC_100003"	"HGNC:21057"	"RSPH9"	"MONDO:0012979"	"primary ciliary dyskinesia 12"	"OMIM:612650"	"Ciliary dyskinesia, primary, 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21057"	"RSPH9"	"OMIM:612650"	"Ciliary dyskinesia, primary, 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:31:45"	""	""	""	"PMID: 28106320"	"668068"	"2020-12-24"
"GENCC_000101-HGNC_21679-OMIM_610644-HP_0000007-GENCC_100003"	"HGNC:21679"	"RSPO1"	"MONDO:0012530"	"palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"	"OMIM:610644"	"Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21679"	"RSPO1"	"OMIM:610644"	"Palmoplantar hyperkeratosis and true hermaphroditism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:31:45"	""	""	""	"PMID: 28106320"	"650170"	"2020-12-24"
"GENCC_000101-HGNC_24152-OMIM_618402-HP_0000007-GENCC_100003"	"HGNC:24152"	"RSRC1"	"MONDO:0032729"	"intellectual developmental disorder, autosomal recessive 70"	"OMIM:618402"	"Intellectual developmental disorder, autosomal recessive 70"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24152"	"RSRC1"	"OMIM:618402"	"Intellectual developmental disorder, autosomal recessive 70"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-06 13:31:45"	""	""	""	"PMID: 28106320"	"78983"	"2020-12-24"
"GENCC_000101-HGNC_10472-OMIM_156510-HP_0000006-GENCC_100003"	"HGNC:10472"	"RUNX2"	"MONDO:0007984"	"metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"	"OMIM:156510"	"Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10472"	"RUNX2"	"OMIM:156510"	"Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-21 13:31:46"	""	""	""	"PMID: 28106320"	"512"	"2020-12-24"
"GENCC_000101-HGNC_10472-OMIM_119600-HP_0000006-GENCC_100001"	"HGNC:10472"	"RUNX2"	"MONDO:0007340"	"cleidocranial dysplasia 1"	"OMIM:119600"	"Cleidocranial dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10472"	"RUNX2"	"OMIM:119600"	"Cleidocranial dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-13 13:31:46"	""	""	""	"PMID: 28106320"	"512"	"2020-12-24"
"GENCC_000101-HGNC_10484-OMIM_600996-HP_0000006-GENCC_100005"	"HGNC:10484"	"RYR2"	"MONDO:0010975"	"arrhythmogenic right ventricular dysplasia 2"	"OMIM:600996"	"OMIM:600996"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10484"	"RYR2"	"OMIM:600996"	"Arrhythmogenic right ventricular dysplasia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2020-10-14 13:31:46"	""	""	""	"PMID: 28106320"	"1616"	"2020-12-24"
"GENCC_000101-HGNC_25403-OMIM_616402-HP_0000007-GENCC_100003"	"HGNC:25403"	"SASS6"	"MONDO:0014623"	"microcephaly 14, primary, autosomal recessive"	"OMIM:616402"	"Microcephaly 14, primary, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25403"	"SASS6"	"OMIM:616402"	"Microcephaly 14, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-21 13:31:47"	""	""	""	"PMID: 28106320"	"819451"	"2020-12-24"
"GENCC_000101-HGNC_21637-OMIM_612313-HP_0000006-GENCC_100003"	"HGNC:21637"	"SATB2"	"MONDO:0012864"	"chromosome 2q32-q33 deletion syndrome"	"OMIM:612313"	"Glass syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21637"	"SATB2"	"OMIM:612313"	"Glass syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-24 13:31:47"	""	""	""	"PMID: 28106320"	"69980"	"2020-12-24"
"GENCC_000101-HGNC_10582-OMIM_615551-HP_0000006-GENCC_100004"	"HGNC:10582"	"SCN10A"	"MONDO:0014246"	"episodic pain syndrome, familial, 2"	"OMIM:615551"	"Episodic pain syndrome, familial, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10582"	"SCN10A"	"OMIM:615551"	"Episodic pain syndrome, familial, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:47"	""	""	""	"PMID: 28106320"	"1991"	"2020-12-24"
"GENCC_000101-HGNC_10585-OMIM_607208-HP_0000006-GENCC_100001"	"HGNC:10585"	"SCN1A"	"MONDO:0100079"	"developmental and epileptic encephalopathy, 6"	"OMIM:607208"	"Dravet syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10585"	"SCN1A"	"OMIM:607208"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-05 00:00:00"	""	""	""	"PMID: 28106320"	"1969"	"2020-12-24"
"GENCC_000101-HGNC_10585-OMIM_604403-HP_0000006-GENCC_100001"	"HGNC:10585"	"SCN1A"	"MONDO:0011461"	"generalized epilepsy with febrile seizures plus, type 2"	"OMIM:604403"	"Generalized epilepsy with febrile seizures plus, type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10585"	"SCN1A"	"OMIM:604403"	"Epilepsy, generalized, with febrile seizures plus, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-02 13:31:48"	""	""	""	"PMID: 28106320"	"1969"	"2020-12-24"
"GENCC_000101-HGNC_10585-OMIM_609634-HP_0000006-GENCC_100002"	"HGNC:10585"	"SCN1A"	"MONDO:0012320"	"migraine, familial hemiplegic, 3"	"OMIM:609634"	"Migraine, familial hemiplegic, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10585"	"SCN1A"	"OMIM:609634"	"Migraine, familial hemiplegic, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2015-08-05 00:00:00"	""	""	""	"PMID: 28106320"	"1969"	"2020-12-24"
"GENCC_000101-HGNC_10588-OMIM_613721-HP_0000006-GENCC_100001"	"HGNC:10588"	"SCN2A"	"MONDO:0013388"	"developmental and epileptic encephalopathy, 11"	"OMIM:613721"	"Developmental and epileptic encephalopathy 11"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10588"	"SCN2A"	"OMIM:613721"	"Developmental and epileptic encephalopathy 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-05 00:00:00"	""	""	""	"PMID: 28106320"	"1961"	"2020-12-24"
"GENCC_000101-HGNC_10588-OMIM_607745-HP_0000006-GENCC_100002"	"HGNC:10588"	"SCN2A"	"MONDO:0011904"	"seizures, benign familial infantile, 3"	"OMIM:607745"	"Seizures, benign familial infantile, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10588"	"SCN2A"	"OMIM:607745"	"Seizures, benign familial infantile, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-14 13:31:48"	""	""	""	"PMID: 28106320"	"1961"	"2020-12-24"
"GENCC_000101-HGNC_10593-OMIM_113900-HP_0032113-GENCC_100003"	"HGNC:10593"	"SCN5A"	"MONDO:0007240"	"progressive familial heart block, type 1A"	"OMIM:113900"	"Heart block, nonprogressive"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10593"	"SCN5A"	"OMIM:113900"	"Heart block, nonprogressive"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-02 13:31:48"	""	""	""	"PMID: 28106320"	"1998"	"2020-12-24"
"GENCC_000101-HGNC_10593-OMIM_603830-HP_0000006-GENCC_100001"	"HGNC:10593"	"SCN5A"	"MONDO:0011377"	"long QT syndrome 3"	"OMIM:603830"	"Long QT syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10593"	"SCN5A"	"OMIM:603830"	"Long QT syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-02 13:31:49"	""	""	""	"PMID: 28106320"	"1998"	"2020-12-24"
"GENCC_000101-HGNC_10593-OMIM_601144-HP_0000006-GENCC_100001"	"HGNC:10593"	"SCN5A"	"MONDO:0011001"	"Brugada syndrome 1"	"OMIM:601144"	"Brugada syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10593"	"SCN5A"	"OMIM:601144"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-02 13:31:49"	""	""	""	"PMID: 28106320"	"1998"	"2020-12-24"
"GENCC_000101-HGNC_10597-OMIM_613863-HP_0000006-GENCC_100004"	"HGNC:10597"	"SCN9A"	"MONDO:0013470"	"generalized epilepsy with febrile seizures plus, type 7"	"OMIM:613863"	"Generalized epilepsy with febrile seizures plus, type 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10597"	"SCN9A"	"OMIM:613863"	"Generalized epilepsy with febrile seizures plus, type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-28 13:31:50"	""	""	""	"PMID: 28106320"	"1997"	"2020-12-24"
"GENCC_000101-HGNC_10597-OMIM_243000-HP_0032113-GENCC_100004"	"HGNC:10597"	"SCN9A"	"MONDO:0009459"	"channelopathy-associated congenital insensitivity to pain, autosomal recessive"	"OMIM:243000"	"Neuropathy, hereditary sensory and autonomic, type IID"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10597"	"SCN9A"	"OMIM:243000"	"Neuropathy, hereditary sensory and autonomic, type IID"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-22 13:31:50"	""	""	""	"PMID: 28106320"	"1997"	"2020-12-24"
"GENCC_000101-HGNC_10671-OMIM_615993-HP_0000007-GENCC_100003"	"HGNC:10671"	"SDCCAG8"	"MONDO:0014444"	"Bardet-Biedl syndrome 16"	"OMIM:615993"	"Bardet-Biedl syndrome 16"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10671"	"SDCCAG8"	"OMIM:615993"	"Bardet-Biedl syndrome 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-01 13:31:50"	""	""	""	"PMID: 28106320"	"82521"	"2020-12-24"
"GENCC_000101-HGNC_10671-OMIM_613615-HP_0000007-GENCC_100003"	"HGNC:10671"	"SDCCAG8"	"MONDO:0013326"	"Senior-Loken syndrome 7"	"OMIM:613615"	"Senior-Loken syndrome 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10671"	"SDCCAG8"	"OMIM:613615"	"Senior-Loken syndrome 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-01 13:31:50"	""	""	""	"PMID: 28106320"	"82521"	"2020-12-24"
"GENCC_000101-HGNC_10680-OMIM_614165-HP_0000006-GENCC_100002"	"HGNC:10680"	"SDHA"	"MONDO:0013602"	"paragangliomas 5"	"OMIM:614165"	"Pheochromocytoma/paraganglioma syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10680"	"SDHA"	"OMIM:614165"	"Pheochromocytoma/paraganglioma syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-11-21 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1888"	"2025-01-17"
"GENCC_000101-HGNC_10680-OMIM_256000-HP_0000007-GENCC_100003"	"HGNC:10680"	"SDHA"	"MONDO:0009723"	"Leigh syndrome"	"OMIM:256000"	"OMIM:256000"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10680"	"SDHA"	"OMIM:256000"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-01-12 00:00:00"	""	""	""	"PMID: 28106320"	"1953"	"2020-12-24"
"GENCC_000101-HGNC_10681-OMIM_115310-HP_0000006-GENCC_100001"	"HGNC:10681"	"SDHB"	"MONDO:0007273"	"paragangliomas 4"	"OMIM:115310"	"Pheochromocytoma/paraganglioma syndrome 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10681"	"SDHB"	"OMIM:115310"	"Paragangliomas 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:51"	""	""	""	"PMID: 28106320"	"1932"	"2020-12-24"
"GENCC_000101-HGNC_10682-OMIM_605373-HP_0000006-GENCC_100002"	"HGNC:10682"	"SDHC"	"MONDO:0011544"	"paragangliomas 3"	"OMIM:605373"	"Pheochromocytoma/paraganglioma syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10682"	"SDHC"	"OMIM:605373"	"Pheochromocytoma/paraganglioma syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-11-21 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65218"	"2025-01-17"
"GENCC_000101-HGNC_17052-OMIM_618651-HP_0000007-GENCC_100004"	"HGNC:17052"	"SEC31A"	"MONDO:0032849"	"neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies"	"OMIM:618651"	"?Halperin-Birk syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17052"	"SEC31A"	"OMIM:618651"	"Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-12-27 13:31:52"	""	""	""	"PMID: 28106320"	"66546"	"2020-12-24"
"GENCC_000101-HGNC_10719-OMIM_618148-HP_0000007-GENCC_100004"	"HGNC:10719"	"SELENBP1"	"MONDO:0029144"	"extraoral halitosis due to methanethiol oxidase deficiency"	"OMIM:618148"	"Extraoral halitosis due to MTO deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10719"	"SELENBP1"	"OMIM:618148"	"Extraoral halitosis due to MTO deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-04 13:31:53"	""	""	""	"PMID: 28106320"	"5338"	"2020-12-24"
"GENCC_000101-HGNC_30605-OMIM_613811-HP_0000007-GENCC_100003"	"HGNC:30605"	"SEPSECS"	"MONDO:0013438"	"pontocerebellar hypoplasia type 2D"	"OMIM:613811"	"Pontocerebellar hypoplasia type 2D"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30605"	"SEPSECS"	"OMIM:613811"	"Pontocerebellar hypoplasia type 2D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-26 13:31:54"	""	""	""	"PMID: 28106320"	"78238"	"2020-12-24"
"GENCC_000101-HGNC_8950-OMIM_613453-HP_0000007-GENCC_100004"	"HGNC:8950"	"SERPINB6"	"MONDO:0013269"	"autosomal recessive nonsyndromic hearing loss 91"	"OMIM:613453"	"?Deafness, autosomal recessive 91"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8950"	"SERPINB6"	"OMIM:613453"	"Deafness, autosomal recessive 91"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:31:54"	""	""	""	"PMID: 28106320"	"7613"	"2020-12-24"
"GENCC_000101-HGNC_775-OMIM_613118-HP_0000007-GENCC_100004"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"OMIM:613118"	"Thrombophilia 7 due to antithrombin III deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:775"	"SERPINC1"	"OMIM:613118"	"Thrombophilia 7 due to antithrombin III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-01 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42060"	"2025-01-17"
"GENCC_000101-HGNC_10771-OMIM_154400-HP_0000006-GENCC_100001"	"HGNC:10771"	"SF3B4"	"MONDO:0007943"	"Nager acrofacial dysostosis"	"OMIM:154400"	"Acrofacial dysostosis 1, Nager type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10771"	"SF3B4"	"OMIM:154400"	"Acrofacial dysostosis 1, Nager type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-23 13:31:54"	""	""	""	"PMID: 28106320"	"82616"	"2020-12-24"
"GENCC_000101-HGNC_10806-OMIM_604286-HP_0000007-GENCC_100001"	"HGNC:10806"	"SGCB"	"MONDO:0011423"	"autosomal recessive limb-girdle muscular dystrophy type 2E"	"OMIM:604286"	"Muscular dystrophy, limb-girdle, autosomal recessive 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10806"	"SGCB"	"OMIM:604286"	"Muscular dystrophy, limb-girdle, autosomal recessive 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:31:54"	""	""	""	"PMID: 28106320"	"1009"	"2020-12-24"
"GENCC_000101-HGNC_10807-OMIM_601287-HP_0000007-GENCC_100003"	"HGNC:10807"	"SGCD"	"MONDO:0011028"	"autosomal recessive limb-girdle muscular dystrophy type 2F"	"OMIM:601287"	"Muscular dystrophy, limb-girdle, autosomal recessive 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10807"	"SGCD"	"OMIM:601287"	"Muscular dystrophy, limb-girdle, autosomal recessive 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-11 13:31:54"	""	""	""	"PMID: 28106320"	"1000"	"2020-12-24"
"GENCC_000101-HGNC_28395-OMIM_126550-HP_0000006-GENCC_100003"	"HGNC:28395"	"SGMS2"	"MONDO:0007470"	"calvarial doughnut lesions-bone fragility syndrome"	"OMIM:126550"	"Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28395"	"SGMS2"	"OMIM:126550"	"Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-02-21 13:31:55"	""	""	""	"PMID: 28106320"	"811363"	"2020-12-24"
"GENCC_000101-HGNC_29427-OMIM_613353-HP_0000006-GENCC_100004"	"HGNC:29427"	"SH3TC2"	"MONDO:0013237"	"susceptibility to mononeuropathy of the median nerve, mild"	"OMIM:613353"	"Mononeuropathy of the median nerve, mild"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29427"	"SH3TC2"	"OMIM:613353"	"Mononeuropathy of the median nerve, mild"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-10-12 13:31:55"	""	""	""	"PMID: 28106320"	"43165"	"2020-12-24"
"GENCC_000101-HGNC_29427-OMIM_601596-HP_0000007-GENCC_100001"	"HGNC:29427"	"SH3TC2"	"MONDO:0011113"	"Charcot-Marie-Tooth disease type 4C"	"OMIM:601596"	"Charcot-Marie-Tooth disease, type 4C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29427"	"SH3TC2"	"OMIM:601596"	"Charcot-Marie-Tooth disease, type 4C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-17 13:31:56"	""	""	""	"PMID: 28106320"	"43165"	"2020-12-24"
"GENCC_000101-HGNC_10898-OMIM_614602-HP_0000007-GENCC_100003"	"HGNC:10898"	"SKIC2"	"MONDO:0013818"	"trichohepatoenteric syndrome 2"	"OMIM:614602"	"Trichohepatoenteric syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10898"	"SKIV2L"	"OMIM:614602"	"Trichohepatoenteric syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-05 13:31:56"	""	""	""	"PMID: 28106320"	"1033"	"2020-12-24"
"GENCC_000101-HGNC_10922-OMIM_616095-HP_0032113-GENCC_100003"	"HGNC:10922"	"SLC16A1"	"MONDO:0014490"	"ketoacidosis due to monocarboxylate transporter-1 deficiency"	"OMIM:616095"	"Monocarboxylate transporter 1 deficiency"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10922"	"SLC16A1"	"OMIM:616095"	"Monocarboxylate transporter 1 deficiency"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-22 13:31:57"	""	""	""	"PMID: 28106320"	"1711"	"2020-12-24"
"GENCC_000101-HGNC_10938-OMIM_249270-HP_0000007-GENCC_100001"	"HGNC:10938"	"SLC19A2"	"MONDO:0009575"	"thiamine-responsive megaloblastic anemia syndrome"	"OMIM:249270"	"Thiamine-responsive megaloblastic anemia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10938"	"SLC19A2"	"OMIM:249270"	"Thiamine-responsive megaloblastic anemia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-26 13:31:57"	""	""	""	"PMID: 28106320"	"82712"	"2020-12-24"
"GENCC_000101-HGNC_10982-OMIM_612949-HP_0000007-GENCC_100003"	"HGNC:10982"	"SLC25A12"	"MONDO:0013056"	"developmental and epileptic encephalopathy, 39"	"OMIM:612949"	"Developmental and epileptic encephalopathy 39"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10982"	"SLC25A12"	"OMIM:612949"	"Developmental and epileptic encephalopathy 39"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-16 13:31:57"	""	""	""	"PMID: 28106320"	"5120"	"2020-12-24"
"GENCC_000101-HGNC_1421-OMIM_212138-HP_0000007-GENCC_100001"	"HGNC:1421"	"SLC25A20"	"MONDO:0008918"	"carnitine-acylcarnitine translocase deficiency"	"OMIM:212138"	"Carnitine-acylcarnitine translocase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1421"	"SLC25A20"	"OMIM:212138"	"Carnitine-acylcarnitine translocase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-26 13:31:57"	""	""	""	"PMID: 28106320"	"455"	"2020-12-24"
"GENCC_000101-HGNC_26054-OMIM_205950-HP_0000007-GENCC_100001"	"HGNC:26054"	"SLC25A38"	"MONDO:0008785"	"sideroblastic anemia 2"	"OMIM:205950"	"Anemia, sideroblastic, 2, pyridoxine-refractory"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26054"	"SLC25A38"	"OMIM:205950"	"Anemia, sideroblastic, 2, pyridoxine-refractory"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-12 13:31:57"	""	""	""	"PMID: 28106320"	"70344"	"2020-12-24"
"GENCC_000101-HGNC_10990-OMIM_615418-HP_0000007-GENCC_100003"	"HGNC:10990"	"SLC25A4"	"MONDO:0014175"	"mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"	"OMIM:615418"	"Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10990"	"SLC25A4"	"OMIM:615418"	"Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:31:57"	""	""	""	"PMID: 28106320"	"638"	"2020-12-24"
"GENCC_000101-HGNC_10990-OMIM_609283-HP_0000006-GENCC_100003"	"HGNC:10990"	"SLC25A4"	"MONDO:0012238"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2"	"OMIM:609283"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10990"	"SLC25A4"	"OMIM:609283"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:31:58"	""	""	""	"PMID: 28106320"	"638"	"2020-12-24"
"GENCC_000101-HGNC_10990-OMIM_617184-HP_0000006-GENCC_100003"	"HGNC:10990"	"SLC25A4"	"MONDO:0014959"	"mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant"	"OMIM:617184"	"Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10990"	"SLC25A4"	"OMIM:617184"	"Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-31 13:31:58"	""	""	""	"PMID: 28106320"	"638"	"2020-12-24"
"GENCC_000101-HGNC_25198-OMIM_616505-HP_0000007-GENCC_100003"	"HGNC:25198"	"SLC25A46"	"MONDO:0014671"	"neuropathy, hereditary motor and sensory, type 6B"	"OMIM:616505"	"Neuropathy, hereditary motor and sensory, type VIB"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25198"	"SLC25A46"	"OMIM:616505"	"Neuropathy, hereditary motor and sensory, type VIB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-30 13:31:58"	""	""	""	"PMID: 28106320"	"38894"	"2020-12-24"
"GENCC_000101-HGNC_10994-OMIM_226900-HP_0000007-GENCC_100003"	"HGNC:10994"	"SLC26A2"	"MONDO:0009189"	"multiple epiphyseal dysplasia type 4"	"OMIM:226900"	"Epiphyseal dysplasia, multiple, 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10994"	"SLC26A2"	"OMIM:226900"	"Epiphyseal dysplasia, multiple, 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-17 13:31:58"	""	""	""	"PMID: 28106320"	"8591"	"2020-12-24"
"GENCC_000101-HGNC_10994-OMIM_222600-HP_0000007-GENCC_100002"	"HGNC:10994"	"SLC26A2"	"MONDO:0009107"	"diastrophic dysplasia"	"OMIM:222600"	"Diastrophic dysplasia, broad bone-platyspondylic variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10994"	"SLC26A2"	"OMIM:222600"	"Diastrophic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-17 13:31:59"	""	""	""	"PMID: 28106320"	"8591"	"2020-12-24"
"GENCC_000101-HGNC_10994-OMIM_256050-HP_0000007-GENCC_100003"	"HGNC:10994"	"SLC26A2"	"MONDO:0009727"	"atelosteogenesis type II"	"OMIM:256050"	"Atelosteogenesis, type II"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10994"	"SLC26A2"	"OMIM:256050"	"Atelosteogenesis, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-17 13:31:59"	""	""	""	"PMID: 28106320"	"8591"	"2020-12-24"
"GENCC_000101-HGNC_10994-OMIM_600972-HP_0000007-GENCC_100003"	"HGNC:10994"	"SLC26A2"	"MONDO:0010966"	"achondrogenesis type IB"	"OMIM:600972"	"Achondrogenesis Ib"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10994"	"SLC26A2"	"OMIM:600972"	"Achondrogenesis Ib"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-17 13:31:59"	""	""	""	"PMID: 28106320"	"8591"	"2020-12-24"
"GENCC_000101-HGNC_1329-OMIM_617595-HP_0000007-GENCC_100003"	"HGNC:1329"	"SLC30A9"	"MONDO:0044726"	"psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"	"OMIM:617595"	"Birk-Landau-Perez syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1329"	"SLC30A9"	"OMIM:617595"	"Birk-Landau-Perez syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-06 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17519"	"2024-01-02"
"GENCC_000101-HGNC_18762-OMIM_138500-HP_0032113-GENCC_100004"	"HGNC:18762"	"SLC36A2"	"MONDO:0007677"	"hyperglycinuria"	"OMIM:138500"	"[Hyperglycinuria]"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18762"	"SLC36A2"	"OMIM:138500"	"Hyperglycinuria"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-02 13:31:59"	""	""	""	"PMID: 28106320"	"879628"	"2020-12-24"
"GENCC_000101-HGNC_11025-OMIM_220100-HP_0000007-GENCC_100001"	"HGNC:11025"	"SLC3A1"	"MONDO:0009067"	"cystinuria"	"OMIM:220100"	"Cystinuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11025"	"SLC3A1"	"OMIM:220100"	"Cystinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-01 13:31:59"	""	""	""	"PMID: 28106320"	"1783"	"2020-12-24"
"GENCC_000101-HGNC_16472-OMIM_606574-HP_0000007-GENCC_100001"	"HGNC:16472"	"SLC45A2"	"MONDO:0011683"	"oculocutaneous albinism type 4"	"OMIM:606574"	"Albinism, oculocutaneous, type IV"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16472"	"SLC45A2"	"OMIM:606574"	"Albinism, oculocutaneous, type IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-18 13:32:00"	""	""	""	"PMID: 28106320"	"78878"	"2020-12-24"
"GENCC_000101-HGNC_11030-OMIM_604278-HP_0000007-GENCC_100002"	"HGNC:11030"	"SLC4A4"	"MONDO:0011422"	"autosomal recessive proximal renal tubular acidosis"	"OMIM:604278"	"Proximal renal tubular acidosis-ocular anomaly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11030"	"SLC4A4"	"OMIM:604278"	"Renal tubular acidosis, proximal, with ocular abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-28 13:32:00"	""	""	""	"PMID: 28106320"	"5148"	"2020-12-24"
"GENCC_000101-HGNC_14025-OMIM_158580-HP_0000006-GENCC_100003"	"HGNC:14025"	"SLC5A7"	"MONDO:0008024"	"neuronopathy, distal hereditary motor, type 7A"	"OMIM:158580"	"Neuronopathy, distal hereditary motor, autosomal dominant 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14025"	"SLC5A7"	"OMIM:158580"	"Neuronopathy, distal hereditary motor, type VIIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-19 13:32:01"	""	""	""	"PMID: 28106320"	"12056"	"2020-12-24"
"GENCC_000101-HGNC_14025-OMIM_617143-HP_0000007-GENCC_100002"	"HGNC:14025"	"SLC5A7"	"MONDO:0014939"	"congenital myasthenic syndrome 20"	"OMIM:617143"	"Myasthenic syndrome, congenital, 20, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14025"	"SLC5A7"	"OMIM:617143"	"Myasthenic syndrome, congenital, 20, presynaptic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-06-19 13:32:01"	""	""	""	"PMID: 28106320"	"12056"	"2020-12-24"
"GENCC_000101-HGNC_11042-OMIM_616421-HP_0000006-GENCC_100002"	"HGNC:11042"	"SLC6A1"	"MONDO:0014633"	"epilepsy with myoclonic atonic seizures"	"OMIM:616421"	"Myoclonic-atonic epilepsy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11042"	"SLC6A1"	"OMIM:616421"	"Myoclonic-atonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-09-05 13:32:01"	""	""	""	"PMID: 28106320"	"1763"	"2020-12-24"
"GENCC_000101-HGNC_30927-OMIM_138500-HP_0000007-GENCC_100004"	"HGNC:30927"	"SLC6A20"	"MONDO:0007677"	"hyperglycinuria"	"OMIM:138500"	"[Hyperglycinuria]"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30927"	"SLC6A20"	"OMIM:138500"	"Hyperglycinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-15 13:32:01"	""	""	""	"PMID: 28106320"	"70481"	"2020-12-24"
"GENCC_000101-HGNC_11049-OMIM_613135-HP_0000007-GENCC_100003"	"HGNC:11049"	"SLC6A3"	"MONDO:0054835"	"classic dopamine transporter deficiency syndrome"	"OMIM:613135"	"Parkinsonism-dystonia, infantile, 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11049"	"SLC6A3"	"OMIM:613135"	"Parkinsonism-dystonia, infantile, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-14 13:32:02"	""	""	""	"PMID: 28106320"	"1798"	"2020-12-24"
"GENCC_000101-HGNC_11073-OMIM_616868-HP_0000007-GENCC_100003"	"HGNC:11073"	"SLC9A3"	"MONDO:0014808"	"congenital secretory sodium diarrhea 8"	"OMIM:616868"	"Diarrhea 8, secretory sodium, congenital"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11073"	"SLC9A3"	"OMIM:616868"	"Diarrhea 8, secretory sodium, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:02"	""	""	""	"PMID: 28106320"	"1772"	"2020-12-24"
"GENCC_000101-HGNC_10955-OMIM_614441-HP_0000007-GENCC_100001"	"HGNC:10955"	"SLCO2A1"	"MONDO:0013756"	"hypertrophic osteoarthropathy, primary, autosomal recessive, 2"	"OMIM:614441"	"PHOAR2-enteropathy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10955"	"SLCO2A1"	"OMIM:614441"	"Hypertrophic osteoarthropathy, primary, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-04-19 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"1726"	"2023-08-19"
"GENCC_000101-HGNC_11117-OMIM_253300-HP_0000007-GENCC_100001"	"HGNC:11117"	"SMN1"	"MONDO:0009669"	"spinal muscular atrophy, type 1"	"OMIM:253300"	"Spinal muscular atrophy-1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11117"	"SMN1"	"OMIM:253300"	"Spinal muscular atrophy-1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:02"	""	""	""	"PMID: 28106320"	"1121"	"2020-12-24"
"GENCC_000101-HGNC_11138-OMIM_605543-HP_0000006-GENCC_100001"	"HGNC:11138"	"SNCA"	"MONDO:0011562"	"autosomal dominant Parkinson disease 4"	"OMIM:605543"	"Parkinson disease 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11138"	"SNCA"	"OMIM:605543"	"Parkinson disease 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:03"	""	""	""	"PMID: 28106320"	"1166"	"2020-12-24"
"GENCC_000101-HGNC_11140-OMIM_127750-HP_0000006-GENCC_100004"	"HGNC:11140"	"SNCB"	"MONDO:0007488"	"Lewy body dementia"	"OMIM:127750"	"Dementia, Lewy body"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11140"	"SNCB"	"OMIM:127750"	"Dementia, Lewy body"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-07-05 13:32:03"	""	""	""	"PMID: 28106320"	"1162"	"2020-12-24"
"GENCC_000101-HGNC_30859-OMIM_610359-HP_0000006-GENCC_100001"	"HGNC:30859"	"SNRNP200"	"MONDO:0012477"	"retinitis pigmentosa 33"	"OMIM:610359"	"Retinitis pigmentosa 33"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30859"	"SNRNP200"	"OMIM:610359"	"Retinitis pigmentosa 33"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-04 23:11:04"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61389"	"2024-01-02"
"GENCC_000101-HGNC_11161-OMIM_615059-HP_0000006-GENCC_100004"	"HGNC:11161"	"SNRPE"	"MONDO:0014027"	"hypotrichosis 11"	"OMIM:615059"	"Hypotrichosis 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11161"	"SNRPE"	"OMIM:615059"	"Hypotrichosis 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-30 13:32:03"	""	""	""	"PMID: 28106320"	"1197"	"2020-12-24"
"GENCC_000101-HGNC_11191-OMIM_615866-HP_0000006-GENCC_100001"	"HGNC:11191"	"SOX11"	"MONDO:0014376"	"intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"	"OMIM:615866"	"Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11191"	"SOX11"	"OMIM:615866"	"Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-09-12 23:11:04"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78299"	"2024-01-02"
"GENCC_000101-HGNC_11195-OMIM_206900-HP_0000006-GENCC_100004"	"HGNC:11195"	"SOX2"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"OMIM:206900"	"Microphthalmia, syndromic 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11195"	"SOX2"	"OMIM:206900"	"Optic nerve hypoplasia and abnormalities of the central nervous system"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-29 13:32:04"	""	""	""	"PMID: 28106320"	"1174"	"2020-12-24"
"GENCC_000101-HGNC_11200-OMIM_618506-HP_0000006-GENCC_100002"	"HGNC:11200"	"SOX4"	"MONDO:0032791"	"Coffin-Siris syndrome 10"	"OMIM:618506"	"Coffin-Siris syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11200"	"SOX4"	"OMIM:618506"	"Coffin-Siris syndrome 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-11-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11417"	"2023-08-19"
"GENCC_000101-HGNC_5401-OMIM_235550-HP_0000007-GENCC_100003"	"HGNC:5401"	"SP110"	"MONDO:0009338"	"hepatic veno-occlusive disease-immunodeficiency syndrome"	"OMIM:235550"	"Hepatic venoocclusive disease with immunodeficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5401"	"SP110"	"OMIM:235550"	"Hepatic venoocclusive disease with immunodeficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:05"	""	""	""	"PMID: 28106320"	"9098"	"2020-12-24"
"GENCC_000101-HGNC_11219-OMIM_616507-HP_0000007-GENCC_100003"	"HGNC:11219"	"SPARC"	"MONDO:0014672"	"osteogenesis imperfecta type 17"	"OMIM:616507"	"Osteogenesis imperfecta, type XVII"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11219"	"SPARC"	"OMIM:616507"	"Osteogenesis imperfecta, type XVII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:05"	""	""	""	"PMID: 28106320"	"1145"	"2020-12-24"
"GENCC_000101-HGNC_11233-OMIM_182601-HP_0000006-GENCC_100003"	"HGNC:11233"	"SPAST"	"MONDO:0008438"	"hereditary spastic paraplegia 4"	"OMIM:182601"	"Spastic paraplegia 4, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11233"	"SPAST"	"OMIM:182601"	"Spastic paraplegia 4, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:05"	""	""	""	"PMID: 28106320"	"1159"	"2020-12-24"
"GENCC_000101-HGNC_11257-OMIM_612716-HP_0000007-GENCC_100002"	"HGNC:11257"	"SPR"	"MONDO:0012994"	"dopa-responsive dystonia due to sepiapterin reductase deficiency"	"OMIM:612716"	"Dystonia, dopa-responsive, due to sepiapterin reductase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11257"	"SPR"	"OMIM:612716"	"Dystonia, dopa-responsive, due to sepiapterin reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-03 13:32:05"	""	""	""	"PMID: 28106320"	"1134"	"2020-12-24"
"GENCC_000101-HGNC_15533-OMIM_615266-HP_0000006-GENCC_100004"	"HGNC:15533"	"SPRY4"	"MONDO:0014102"	"hypogonadotropic hypogonadism 17 with or without anosmia"	"OMIM:615266"	"Hypogonadotropic hypogonadism 17 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15533"	"SPRY4"	"OMIM:615266"	"Hypogonadotropic hypogonadism 17 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-20 13:32:06"	""	""	""	"PMID: 28106320"	"58505"	"2020-12-24"
"GENCC_000101-HGNC_11280-OMIM_617145-HP_0000007-GENCC_100002"	"HGNC:11280"	"SQSTM1"	"MONDO:0014940"	"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"OMIM:617145"	"Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11280"	"SQSTM1"	"OMIM:617145"	"Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-11-06 13:32:06"	""	""	""	"PMID: 28106320"	"5545"	"2020-12-24"
"GENCC_000101-HGNC_11303-OMIM_614675-HP_0000006-GENCC_100004"	"HGNC:11303"	"SRP72"	"MONDO:0013851"	"autosomal dominant aplasia and myelodysplasia"	"OMIM:614675"	"Bone marrow failure syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11303"	"SRP72"	"OMIM:614675"	"Bone marrow failure syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78717"	"2023-08-19"
"GENCC_000101-HGNC_11362-OMIM_614892-HP_0000006-GENCC_100003"	"HGNC:11362"	"STAT1"	"MONDO:0013956"	"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"	"OMIM:614892"	"Immunodeficiency 31A, mycobacteriosis, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11362"	"STAT1"	"OMIM:614892"	"Immunodeficiency 31A, mycobacteriosis, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:07"	""	""	""	"PMID: 28106320"	"1446"	"2020-12-24"
"GENCC_000101-HGNC_11362-OMIM_613796-HP_0000007-GENCC_100001"	"HGNC:11362"	"STAT1"	"MONDO:0013427"	"immunodeficiency 31B"	"OMIM:613796"	"Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11362"	"STAT1"	"OMIM:613796"	"Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-09-21 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78046"	"2024-01-02"
"GENCC_000101-HGNC_11362-OMIM_614162-HP_0000006-GENCC_100002"	"HGNC:11362"	"STAT1"	"MONDO:0013599"	"autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"	"OMIM:614162"	"Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11362"	"STAT1"	"OMIM:614162"	"Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:32:08"	""	""	""	"PMID: 28106320"	"1446"	"2020-12-24"
"GENCC_000101-HGNC_24592-OMIM_615234-HP_0000006-GENCC_100004"	"HGNC:24592"	"STEAP3"	"MONDO:0014094"	"severe congenital hypochromic anemia with ringed sideroblasts"	"OMIM:615234"	"?Anemia, hypochromic microcytic, with iron overload 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24592"	"STEAP3"	"OMIM:615234"	"Anemia, hypochromic microcytic, with iron overload 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-27 13:32:08"	""	""	""	"PMID: 28106320"	"77602"	"2020-12-24"
"GENCC_000101-HGNC_11510-OMIM_616040-HP_0000006-GENCC_100003"	"HGNC:11510"	"SYT2"	"MONDO:0014468"	"congenital myasthenic syndrome 7"	"OMIM:616040"	"Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11510"	"SYT2"	"OMIM:616040"	"Myasthenic syndrome, congenital, 7, presynaptic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-10 13:32:09"	""	""	""	"PMID: 28106320"	"864599"	"2020-12-24"
"GENCC_000101-HGNC_43-OMIM_604571-HP_0000007-GENCC_100003"	"HGNC:43"	"TAP1"	"MONDO:0011476"	"MHC class I deficiency"	"OMIM:604571"	"MHC class I deficiency 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:43"	"TAP1"	"OMIM:604571"	"Bare lymphocyte syndrome, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-08 13:32:09"	""	""	""	"PMID: 28106320"	"1532"	"2020-12-24"
"GENCC_000101-HGNC_44-OMIM_604571-HP_0000007-GENCC_100003"	"HGNC:44"	"TAP2"	"MONDO:0011476"	"MHC class I deficiency"	"OMIM:604571"	"MHC class I deficiency 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:44"	"TAP2"	"OMIM:604571"	"Bare lymphocyte syndrome, type I, due to TAP2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-30 13:32:09"	""	""	""	"PMID: 28106320"	"1538"	"2020-12-24"
"GENCC_000101-HGNC_11566-OMIM_604571-HP_0000007-GENCC_100004"	"HGNC:11566"	"TAPBP"	"MONDO:0011476"	"MHC class I deficiency"	"OMIM:604571"	"MHC class I deficiency 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11566"	"TAPBP"	"OMIM:604571"	"Bare lymphocyte syndrome, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-08-30 13:32:09"	""	""	""	"PMID: 28106320"	"1536"	"2020-12-24"
"GENCC_000101-HGNC_11571-OMIM_612069-HP_0000006-GENCC_100001"	"HGNC:11571"	"TARDBP"	"MONDO:0012790"	"amyotrophic lateral sclerosis type 10"	"OMIM:612069"	"Amyotrophic lateral sclerosis 10, with or without FTD"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11571"	"TARDBP"	"OMIM:612069"	"Amyotrophic lateral sclerosis 10, with or without FTD"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-10 13:32:09"	""	""	""	"PMID: 28106320"	"69097"	"2020-12-24"
"GENCC_000101-HGNC_21066-OMIM_248000-HP_0000007-GENCC_100004"	"HGNC:21066"	"TBC1D7"	"MONDO:0009544"	"macrocephaly/megalencephaly syndrome, autosomal recessive"	"OMIM:248000"	"Macrocephaly/megalencephaly syndrome, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21066"	"TBC1D7"	"OMIM:248000"	"Macrocephaly/megalencephaly syndrome, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-03 13:32:10"	""	""	""	"PMID: 28106320"	"78671"	"2020-12-24"
"GENCC_000101-HGNC_11582-OMIM_244460-HP_0000007-GENCC_100003"	"HGNC:11582"	"TBCE"	"MONDO:0009486"	"autosomal recessive Kenny-Caffey syndrome"	"OMIM:244460"	"Kenny-Caffey syndrome, type 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11582"	"TBCE"	"OMIM:244460"	"Kenny-Caffey syndrome, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-03-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"73028"	"2023-08-19"
"GENCC_000101-HGNC_29529-OMIM_616944-HP_0000006-GENCC_100003"	"HGNC:29529"	"TBL1XR1"	"MONDO:0014842"	"intellectual disability, autosomal dominant 41"	"OMIM:616944"	"Intellectual developmental disorder, autosomal dominant 41"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29529"	"TBL1XR1"	"OMIM:616944"	"Mental retardation, autosomal dominant 41 "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-28 13:32:11"	""	""	""	"PMID: 28106320"	"43485"	"2020-12-24"
"GENCC_000101-HGNC_29529-OMIM_602342-HP_0000006-GENCC_100003"	"HGNC:29529"	"TBL1XR1"	"MONDO:0011213"	"Pierpont syndrome"	"OMIM:602342"	"Pierpont syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29529"	"TBL1XR1"	"OMIM:602342"	"Pierpont syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-01-18 00:00:00"	""	""	""	"PMID: 28106320"	"43485"	"2020-12-24"
"GENCC_000101-HGNC_11596-OMIM_201400-HP_0000007-GENCC_100001"	"HGNC:11596"	"TBX19"	"MONDO:0008720"	"congenital isolated adrenocorticotropic hormone deficiency"	"OMIM:201400"	"Adrenocorticotropic hormone deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11596"	"TBX19"	"OMIM:201400"	"Adrenocorticotropic hormone deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-04-27 13:32:11"	""	""	""	"PMID: 28106320"	"3237"	"2020-12-24"
"GENCC_000101-HGNC_17768-OMIM_616949-HP_0000007-GENCC_100002"	"HGNC:17768"	"TDP2"	"MONDO:0014846"	"spinocerebellar ataxia, autosomal recessive 23"	"OMIM:616949"	"Spinocerebellar ataxia, autosomal recessive 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17768"	"TDP2"	"OMIM:616949"	"Spinocerebellar ataxia, autosomal recessive 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-03 13:32:12"	""	""	""	"PMID: 28106320"	"78714"	"2020-12-24"
"GENCC_000101-HGNC_29944-OMIM_615145-HP_0000007-GENCC_100003"	"HGNC:29944"	"TENM3"	"MONDO:0014059"	"microphthalmia, isolated, with coloboma 9"	"OMIM:615145"	"?Microphthalmia/coloboma 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29944"	"TENM3"	"OMIM:615145"	"Microphthalmia, syndromic 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-29 13:32:12"	""	""	""	"PMID: 28106320"	"77480"	"2020-12-24"
"GENCC_000101-HGNC_11727-OMIM_127550-HP_0000006-GENCC_100001"	"HGNC:11727"	"TERC"	"MONDO:0007485"	"dyskeratosis congenita, autosomal dominant 1"	"OMIM:127550"	"Dyskeratosis congenita, autosomal dominant 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11727"	"TERC"	"OMIM:127550"	"Dyskeratosis congenita, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:12"	""	""	""	"PMID: 28106320"	"4286"	"2020-12-24"
"GENCC_000101-HGNC_11730-OMIM_613989-HP_0032113-GENCC_100001"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11730"	"TERT"	"OMIM:613989"	"Dyskeratosis congenita, autosomal dominant 2"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:12"	""	""	""	"PMID: 28106320"	"4287"	"2020-12-24"
"GENCC_000101-HGNC_11730-OMIM_615134-HP_0000006-GENCC_100004"	"HGNC:11730"	"TERT"	"MONDO:0014056"	"melanoma, cutaneous malignant, susceptibility to, 9"	"OMIM:615134"	"{Melanoma, cutaneous malignant, 9}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11730"	"TERT"	"OMIM:615134"	"Melanoma, cutaneous malignant, 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-13 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78128"	"2025-01-17"
"GENCC_000101-HGNC_11730-OMIM_614742-HP_0000006-GENCC_100001"	"HGNC:11730"	"TERT"	"MONDO:0013878"	"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1"	"OMIM:614742"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11730"	"TERT"	"OMIM:614742"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-04 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71853"	"2024-01-02"
"GENCC_000101-HGNC_28313-OMIM_618798-HP_0032113-GENCC_100003"	"HGNC:28313"	"TET3"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"OMIM:618798"	"Beck-Fahrner syndrome"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28313"	"TET3"	"OMIM:618798"	"Beck-Fahrner syndrome"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-13 13:32:13"	""	""	""	"PMID: 28106320"	"622060"	"2020-12-24"
"GENCC_000101-HGNC_11768-OMIM_614816-HP_0000006-GENCC_100002"	"HGNC:11768"	"TGFB2"	"MONDO:0013897"	"Loeys-Dietz syndrome 4"	"OMIM:614816"	"Loeys-Dietz syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11768"	"TGFB2"	"OMIM:614816"	"Loeys-Dietz syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-27 13:32:14"	""	""	""	"PMID: 28106320"	"4206"	"2020-12-24"
"GENCC_000101-HGNC_11795-OMIM_187950-HP_0000006-GENCC_100003"	"HGNC:11795"	"THPO"	"MONDO:0008554"	"thrombocythemia 1"	"OMIM:187950"	"Thrombocythemia, somatic"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11795"	"THPO"	"OMIM:187950"	"Thrombocythemia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-08-08 00:00:00"	""	""	""	"PMID: 28106320"	"4211"	"2020-12-24"
"GENCC_000101-HGNC_11843-OMIM_613087-HP_0000006-GENCC_100004"	"HGNC:11843"	"TLL1"	"MONDO:0013123"	"atrial septal defect 6"	"OMIM:613087"	"Atrial septal defect 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11843"	"TLL1"	"OMIM:613087"	"Atrial septal defect 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-02-25 13:32:14"	""	""	""	"PMID: 28106320"	"4236"	"2020-12-24"
"GENCC_000101-HGNC_18188-OMIM_213980-HP_0000007-GENCC_100003"	"HGNC:18188"	"TMCO1"	"MONDO:0008952"	"cerebrofaciothoracic dysplasia"	"OMIM:213980"	"Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18188"	"TMCO1"	"OMIM:213980"	"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-19 13:32:14"	""	""	""	"PMID: 28106320"	"70033"	"2020-12-24"
"GENCC_000101-HGNC_26038-OMIM_171300-HP_0000006-GENCC_100001"	"HGNC:26038"	"TMEM127"	"MONDO:0008233"	"pheochromocytoma"	"OMIM:171300"	"{Pheochromocytoma, susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26038"	"TMEM127"	"OMIM:171300"	"Pheochromocytoma, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-12-12 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"69386"	"2025-01-17"
"GENCC_000101-HGNC_30760-OMIM_614727-HP_0000007-GENCC_100004"	"HGNC:30760"	"TMEM165"	"MONDO:0013870"	"TMEM165-congenital disorder of glycosylation"	"OMIM:614727"	"Congenital disorder of glycosylation, type IIk"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30760"	"TMEM165"	"OMIM:614727"	"Congenital disorder of glycosylation, type IIk"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-17 13:32:14"	""	""	""	"PMID: 28106320"	"77575"	"2020-12-24"
"GENCC_000101-HGNC_14432-OMIM_614424-HP_0000007-GENCC_100003"	"HGNC:14432"	"TMEM237"	"MONDO:0013745"	"Joubert syndrome 14"	"OMIM:614424"	"Joubert syndrome 14"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14432"	"TMEM237"	"OMIM:614424"	"Joubert syndrome 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:14"	""	""	""	"PMID: 28106320"	"17216"	"2020-12-24"
"GENCC_000101-HGNC_28472-OMIM_604400-HP_0000006-GENCC_100003"	"HGNC:28472"	"TMEM43"	"MONDO:0011459"	"arrhythmogenic right ventricular dysplasia 5"	"OMIM:604400"	"Arrhythmogenic right ventricular dysplasia 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28472"	"TMEM43"	"OMIM:604400"	"Arrhythmogenic right ventricular dysplasia 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-28 13:32:14"	""	""	""	"PMID: 28106320"	"43855"	"2020-12-24"
"GENCC_000101-HGNC_30800-OMIM_600971-HP_0000007-GENCC_100003"	"HGNC:30800"	"TMIE"	"MONDO:0010965"	"autosomal recessive nonsyndromic hearing loss 6"	"OMIM:600971"	"Deafness, autosomal recessive 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30800"	"TMIE"	"OMIM:600971"	"Deafness, autosomal recessive 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:14"	""	""	""	"PMID: 28106320"	"673691"	"2020-12-24"
"GENCC_000101-HGNC_11918-OMIM_615593-HP_0000007-GENCC_100004"	"HGNC:11918"	"TNFRSF4"	"MONDO:0014268"	"combined immunodeficiency due to OX40 deficiency"	"OMIM:615593"	"?Immunodeficiency 16"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11918"	"TNFRSF4"	"OMIM:615593"	"Immunodeficiency 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-06-27 13:32:15"	""	""	""	"PMID: 28106320"	"4639"	"2020-12-24"
"GENCC_000101-HGNC_30765-OMIM_617028-HP_0000007-GENCC_100004"	"HGNC:30765"	"TNIK"	"MONDO:0014876"	"intellectual disability, autosomal recessive 54"	"OMIM:617028"	"Intellectual developmental disorder, autosomal recessive 54"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30765"	"TNIK"	"OMIM:617028"	"Mental retardation, autosomal recessive 54"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-29 13:32:15"	""	""	""	"PMID: 28106320"	"69209"	"2020-12-24"
"GENCC_000101-HGNC_11943-OMIM_611879-HP_0000006-GENCC_100003"	"HGNC:11943"	"TNNC1"	"MONDO:0012745"	"dilated cardiomyopathy 1Z"	"OMIM:611879"	"Cardiomyopathy, dilated, 1Z"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11943"	"TNNC1"	"OMIM:611879"	"Cardiomyopathy, dilated, 1Z"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-30 13:32:16"	""	""	""	"PMID: 28106320"	"4890"	"2020-12-24"
"GENCC_000101-HGNC_19661-OMIM_616117-HP_0000006-GENCC_100003"	"HGNC:19661"	"TNNI3K"	"MONDO:0014500"	"atrial conduction disease"	"OMIM:616117"	"Cardiac conduction disease with or without dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19661"	"TNNI3K"	"OMIM:616117"	"Cardiac conduction disease with or without dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-12 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71973"	"2025-01-17"
"GENCC_000101-HGNC_11949-OMIM_601494-HP_0000006-GENCC_100001"	"HGNC:11949"	"TNNT2"	"MONDO:0011095"	"dilated cardiomyopathy 1D"	"OMIM:601494"	"Left ventricular noncompaction 6"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11949"	"TNNT2"	"OMIM:601494"	"Cardiomyopathy, dilated, 1D"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-01-27 00:00:00"	""	""	""	"PMID: 28106320"	"4893"	"2020-12-24"
"GENCC_000101-HGNC_11949-OMIM_115195-HP_0000006-GENCC_100001"	"HGNC:11949"	"TNNT2"	"MONDO:0007266"	"hypertrophic cardiomyopathy 2"	"OMIM:115195"	"Cardiomyopathy, hypertrophic, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11949"	"TNNT2"	"OMIM:115195"	"Cardiomyopathy, hypertrophic, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:32:16"	""	""	""	"PMID: 28106320"	"4893"	"2020-12-24"
"GENCC_000101-HGNC_15954-OMIM_614969-HP_0000007-GENCC_100003"	"HGNC:15954"	"TOE1"	"MONDO:0013993"	"pontocerebellar hypoplasia type 7"	"OMIM:614969"	"Pontocerebellar hypoplasia, type 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15954"	"TOE1"	"OMIM:614969"	"Pontocerebellar hypoplasia, type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-06 13:32:17"	""	""	""	"PMID: 28106320"	"880290"	"2020-12-24"
"GENCC_000101-HGNC_29456-OMIM_617072-HP_0000007-GENCC_100003"	"HGNC:29456"	"TOR1AIP1"	"MONDO:0014900"	"autosomal recessive limb-girdle muscular dystrophy type 2Y"	"OMIM:617072"	"?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29456"	"TOR1AIP1"	"OMIM:617072"	"Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:18"	""	""	""	"PMID: 28106320"	"61236"	"2020-12-24"
"GENCC_000101-HGNC_15979-OMIM_604292-HP_0000006-GENCC_100001"	"HGNC:15979"	"TP63"	"MONDO:0011428"	"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"	"OMIM:604292"	"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15979"	"TP63"	"OMIM:604292"	"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:18"	""	""	""	"PMID: 28106320"	"5161"	"2020-12-24"
"GENCC_000101-HGNC_12012-OMIM_255310-HP_0032113-GENCC_100003"	"HGNC:12012"	"TPM3"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"OMIM:255310"	"Congenital myopathy 4A, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12012"	"TPM3"	"OMIM:255310"	"Myopathy, congenital, with fiber-type disproportion"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:18"	""	""	""	"PMID: 28106320"	"4842"	"2020-12-24"
"GENCC_000101-HGNC_12012-OMIM_609284-HP_0032113-GENCC_100003"	"HGNC:12012"	"TPM3"	"MONDO:0012239"	"congenital myopathy 4B, autosomal recessive"	"OMIM:609284"	"Congenital myopathy 4B, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12012"	"TPM3"	"OMIM:609284"	"Nemaline myopathy 1, autosomal dominant or recessive"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:18"	""	""	""	"PMID: 28106320"	"4842"	"2020-12-24"
"GENCC_000101-HGNC_24284-OMIM_617669-HP_0000007-GENCC_100004"	"HGNC:24284"	"TRAPPC12"	"MONDO:0044696"	"early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"	"OMIM:617669"	"Encephalopathy, progressive, early-onset, with brain atrophy and spasticity"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24284"	"TRAPPC12"	"OMIM:617669"	"Encephalopathy, progressive, early-onset, with brain atrophy and spasticity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-01 13:32:19"	""	""	""	"PMID: 28106320"	"78886"	"2020-12-24"
"GENCC_000101-HGNC_17761-OMIM_618193-HP_0000007-GENCC_100003"	"HGNC:17761"	"TREM2"	"MONDO:0020750"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"OMIM:618193"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17761"	"TREM2"	"OMIM:618193"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-14 13:32:19"	""	""	""	"PMID: 28106320"	"70623"	"2020-12-24"
"GENCC_000101-HGNC_12269-OMIM_192315-HP_0000006-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0008641"	"retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"	"OMIM:192315"	"Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12269"	"TREX1"	"OMIM:192315"	"Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-04-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61306"	"2023-08-19"
"GENCC_000101-HGNC_15974-OMIM_615490-HP_0000007-GENCC_100004"	"HGNC:15974"	"TRIM2"	"MONDO:0014208"	"Charcot-Marie-Tooth disease type 2R"	"OMIM:615490"	"Charcot-Marie-Tooth disease, type 2R"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15974"	"TRIM2"	"OMIM:615490"	"Charcot-Marie-Tooth disease, type 2R"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-11-23 13:32:20"	""	""	""	"PMID: 28106320"	"69968"	"2020-12-24"
"GENCC_000101-HGNC_12303-OMIM_617061-HP_0000006-GENCC_100002"	"HGNC:12303"	"TRIO"	"MONDO:0014892"	"micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"	"OMIM:617061"	"Intellectual developmental disorder, autosomal dominant 44, with microcephaly"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12303"	"TRIO"	"OMIM:617061"	"Intellectual developmental disorder, autosomal dominant 44, with microcephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-04-22 13:32:20"	""	""	""	"PMID: 28106320"	"4620"	"2020-12-24"
"GENCC_000101-HGNC_12303-OMIM_618825-HP_0000006-GENCC_100003"	"HGNC:12303"	"TRIO"	"MONDO:0032939"	"intellectual developmental disorder, autosomal dominant 63, with macrocephaly"	"OMIM:618825"	"Intellectual developmental disorder, autosomal dominant 63, with macrocephaly"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12303"	"TRIO"	"OMIM:618825"	"Intellectual developmental disorder, autosomal dominant 63, with macrocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-22 13:32:21"	""	""	""	"PMID: 28106320"	"4620"	"2020-12-24"
"GENCC_000101-HGNC_25660-OMIM_613819-HP_0000007-GENCC_100001"	"HGNC:25660"	"TTC21B"	"MONDO:0013441"	"asphyxiating thoracic dystrophy 4"	"OMIM:613819"	"Short-rib thoracic dysplasia 4 with or without polydactyly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25660"	"TTC21B"	"OMIM:613819"	"Short-rib thoracic dysplasia 4 with or without polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-05 13:32:21"	""	""	""	"PMID: 28106320"	"43523"	"2020-12-24"
"GENCC_000101-HGNC_23639-OMIM_222470-HP_0000007-GENCC_100001"	"HGNC:23639"	"SKIC3"	"MONDO:0024541"	"trichohepatoenteric syndrome 1"	"OMIM:222470"	"Trichohepatoenteric syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23639"	"TTC37"	"OMIM:222470"	"Trichohepatoenteric syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-21 13:32:21"	""	""	""	"PMID: 28106320"	"3176"	"2020-12-24"
"GENCC_000101-HGNC_19750-OMIM_243150-HP_0000007-GENCC_100002"	"HGNC:19750"	"TTC7A"	"MONDO:0009465"	"multiple intestinal atresia"	"OMIM:243150"	"Gastrointestinal defects and immunodeficiency syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19750"	"TTC7A"	"OMIM:243150"	"Gastrointestinal defects and immunodeficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-26 13:32:21"	""	""	""	"PMID: 28106320"	"74684"	"2020-12-24"
"GENCC_000101-HGNC_12403-OMIM_600334-HP_0000006-GENCC_100003"	"HGNC:12403"	"TTN"	"MONDO:0010870"	"tibial muscular dystrophy"	"OMIM:600334"	"Tibial muscular dystrophy, tardive"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12403"	"TTN"	"OMIM:600334"	"Tibial muscular dystrophy, tardive"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-26 13:32:22"	""	""	""	"PMID: 28106320"	"4649"	"2020-12-24"
"GENCC_000101-HGNC_12403-OMIM_604145-HP_0000006-GENCC_100001"	"HGNC:12403"	"TTN"	"MONDO:0011400"	"dilated cardiomyopathy 1G"	"OMIM:604145"	"Cardiomyopathy, dilated, 1G"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12403"	"TTN"	"OMIM:604145"	"Cardiomyopathy, dilated 1G"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-10-07 00:00:00"	""	""	""	"PMID: 28106320"	"4649"	"2020-12-24"
"GENCC_000101-HGNC_12403-OMIM_608807-HP_0000007-GENCC_100003"	"HGNC:12403"	"TTN"	"MONDO:0012127"	"autosomal recessive limb-girdle muscular dystrophy type 2J"	"OMIM:608807"	"Muscular dystrophy, limb-girdle, autosomal recessive 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12403"	"TTN"	"OMIM:608807"	"Muscular dystrophy, limb-girdle, autosomal recessive 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-10-07 00:00:00"	""	""	""	"PMID: 28106320"	"4649"	"2020-12-24"
"GENCC_000101-HGNC_12407-OMIM_616208-HP_0000006-GENCC_100003"	"HGNC:12407"	"TUBA4A"	"MONDO:0014531"	"amyotrophic lateral sclerosis type 22"	"OMIM:616208"	"Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12407"	"TUBA4A"	"OMIM:616208"	"Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:32:23"	""	""	""	"PMID: 28106320"	"4644"	"2020-12-24"
"GENCC_000101-HGNC_20778-OMIM_615771-HP_0000006-GENCC_100003"	"HGNC:20778"	"TUBB"	"MONDO:0014341"	"complex cortical dysplasia with other brain malformations 6"	"OMIM:615771"	"Cortical dysplasia, complex, with other brain malformations 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20778"	"TUBB"	"OMIM:615771"	"Cortical dysplasia, complex, with other brain malformations 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-21 13:32:23"	""	""	""	"PMID: 28106320"	"629215"	"2020-12-24"
"GENCC_000101-HGNC_20778-OMIM_156610-HP_0000006-GENCC_100003"	"HGNC:20778"	"TUBB"	"MONDO:0020738"	"multiple benign circumferential skin creases on limbs 1"	"OMIM:156610"	"Symmetric circumferential skin creases, congenital, 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20778"	"TUBB"	"OMIM:156610"	"Symmetric circumferential skin creases, congenital, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-21 13:32:23"	""	""	""	"PMID: 28106320"	"629215"	"2020-12-24"
"GENCC_000101-HGNC_12513-OMIM_615491-HP_0000007-GENCC_100003"	"HGNC:12513"	"UCHL1"	"MONDO:0014209"	"early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"	"OMIM:615491"	"Spastic paraplegia 79B, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12513"	"UCHL1"	"OMIM:615491"	"Spastic paraplegia 79, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-14 13:32:24"	""	""	""	"PMID: 28106320"	"4907"	"2020-12-24"
"GENCC_000101-HGNC_12525-OMIM_618792-HP_0000007-GENCC_100002"	"HGNC:12525"	"UGDH"	"MONDO:0032918"	"developmental and epileptic encephalopathy, 84"	"OMIM:618792"	"Developmental and epileptic encephalopathy 84"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12525"	"UGDH"	"OMIM:618792"	"Developmental and epileptic encephalopathy 84"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-14 13:32:24"	""	""	""	"PMID: 28106320"	"4975"	"2020-12-24"
"GENCC_000101-HGNC_12527-OMIM_618744-HP_0000007-GENCC_100003"	"HGNC:12527"	"UGP2"	"MONDO:0032895"	"developmental and epileptic encephalopathy, 83"	"OMIM:618744"	"Developmental and epileptic encephalopathy 83"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12527"	"UGP2"	"OMIM:618744"	"Developmental and epileptic encephalopathy 83"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-12-30 13:32:24"	""	""	""	"PMID: 28106320"	"4912"	"2020-12-24"
"GENCC_000101-HGNC_12530-OMIM_606785-HP_0000007-GENCC_100001"	"HGNC:12530"	"UGT1A1"	"MONDO:0011725"	"Crigler-Najjar syndrome type 2"	"OMIM:606785"	"Crigler-Najjar syndrome, type II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12530"	"UGT1A1"	"OMIM:606785"	"Crigler-Najjar syndrome, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:24"	""	""	""	"PMID: 28106320"	"70175"	"2020-12-24"
"GENCC_000101-HGNC_12530-OMIM_218800-HP_0000007-GENCC_100001"	"HGNC:12530"	"UGT1A1"	"MONDO:0021020"	"Crigler-Najjar syndrome type 1"	"OMIM:218800"	"Crigler-Najjar syndrome, type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12530"	"UGT1A1"	"OMIM:218800"	"Crigler-Najjar syndrome, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:24"	""	""	""	"PMID: 28106320"	"70175"	"2020-12-24"
"GENCC_000101-HGNC_15511-OMIM_182940-HP_0000006-GENCC_100003"	"HGNC:15511"	"VANGL2"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"{Neural tube defects, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15511"	"VANGL2"	"OMIM:182940"	"Neural tube defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:25"	""	""	""	"PMID: 28106320"	"74681"	"2020-12-24"
"GENCC_000101-HGNC_21642-OMIM_615917-HP_0000007-GENCC_100003"	"HGNC:21642"	"VARS2"	"MONDO:0014397"	"combined oxidative phosphorylation defect type 20"	"OMIM:615917"	"Combined oxidative phosphorylation deficiency 20"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21642"	"VARS2"	"OMIM:615917"	"Combined oxidative phosphorylation deficiency 20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 13:32:26"	""	""	""	"PMID: 28106320"	"74841"	"2020-12-24"
"GENCC_000101-HGNC_2464-OMIM_143200-HP_0000006-GENCC_100003"	"HGNC:2464"	"VCAN"	"MONDO:0007740"	"Wagner disease"	"OMIM:143200"	"Wagner syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2464"	"VCAN"	"OMIM:143200"	"Wagner syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-12 13:32:26"	""	""	""	"PMID: 28106320"	"8016"	"2020-12-24"
"GENCC_000101-HGNC_28027-OMIM_615992-HP_0000007-GENCC_100004"	"HGNC:28027"	"WDPCP"	"MONDO:0014443"	"Bardet-Biedl syndrome 15"	"OMIM:615992"	"Bardet-Biedl syndrome 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28027"	"WDPCP"	"OMIM:615992"	"Bardet-Biedl syndrome 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:32:26"	""	""	""	"PMID: 28106320"	"78274"	"2020-12-24"
"GENCC_000101-HGNC_28027-OMIM_217085-HP_0000007-GENCC_100004"	"HGNC:28027"	"WDPCP"	"MONDO:0009008"	"heart defect - tongue hamartoma - polysyndactyly syndrome"	"OMIM:217085"	"Congenital heart defects, hamartomas of tongue, and polysyndactyly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28027"	"WDPCP"	"OMIM:217085"	"Congenital heart defects, hamartomas of tongue, and polysyndactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:32:27"	""	""	""	"PMID: 28106320"	"78274"	"2020-12-24"
"GENCC_000101-HGNC_12736-OMIM_614493-HP_0000007-GENCC_100003"	"HGNC:12736"	"WIPF1"	"MONDO:0013779"	"Wiskott-Aldrich syndrome 2"	"OMIM:614493"	"Wiskott-Aldrich syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12736"	"WIPF1"	"OMIM:614493"	"Wiskott-Aldrich syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-02-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64738"	"2023-08-19"
"GENCC_000101-HGNC_12781-OMIM_618168-HP_0000007-GENCC_100004"	"HGNC:12781"	"WNT2B"	"MONDO:0032575"	"diarrhea 9"	"OMIM:618168"	"Diarrhea 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12781"	"WNT2B"	"OMIM:618168"	"Diarrhea 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-09 13:32:28"	""	""	""	"PMID: 28106320"	"4056"	"2020-12-24"
"GENCC_000101-HGNC_12783-OMIM_611812-HP_0000007-GENCC_100004"	"HGNC:12783"	"WNT4"	"MONDO:0012734"	"SERKAL syndrome"	"OMIM:611812"	"?SERKAL syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12783"	"WNT4"	"OMIM:611812"	"SERKAL syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:32:28"	""	""	""	"PMID: 28106320"	"70918"	"2020-12-24"
"GENCC_000101-HGNC_12783-OMIM_158330-HP_0000006-GENCC_100003"	"HGNC:12783"	"WNT4"	"MONDO:0008019"	"mullerian aplasia and hyperandrogenism"	"OMIM:158330"	"Mullerian aplasia and hyperandrogenism"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12783"	"WNT4"	"OMIM:158330"	"Mullerian aplasia and hyperandrogenism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:28"	""	""	""	"PMID: 28106320"	"70918"	"2020-12-24"
"GENCC_000101-HGNC_12784-OMIM_180700-HP_0000006-GENCC_100003"	"HGNC:12784"	"WNT5A"	"MONDO:0024455"	"autosomal dominant Robinow syndrome 1"	"OMIM:180700"	"Robinow syndrome, autosomal dominant 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12784"	"WNT5A"	"OMIM:180700"	"Robinow syndrome, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-26 13:32:28"	""	""	""	"PMID: 28106320"	"4040"	"2020-12-24"
"GENCC_000101-HGNC_12805-OMIM_278300-HP_0000007-GENCC_100003"	"HGNC:12805"	"XDH"	"MONDO:0010209"	"xanthinuria type I"	"OMIM:278300"	"Xanthinuria, type I"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12805"	"XDH"	"OMIM:278300"	"Xanthinuria, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-02 13:32:28"	""	""	""	"PMID: 28106320"	"4035"	"2020-12-24"
"GENCC_000101-HGNC_12827-OMIM_616413-HP_0000006-GENCC_100003"	"HGNC:12827"	"XPR1"	"MONDO:0014628"	"basal ganglia calcification, idiopathic, 6"	"OMIM:616413"	"Basal ganglia calcification, idiopathic, 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12827"	"XPR1"	"OMIM:616413"	"Basal ganglia calcification, idiopathic, 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-09 13:32:28"	""	""	""	"PMID: 28106320"	"3689"	"2020-12-24"
"GENCC_000101-HGNC_13503-OMIM_259050-HP_0000006-GENCC_100003"	"HGNC:13503"	"ZBTB20"	"MONDO:0009798"	"Primrose syndrome"	"OMIM:259050"	"Primrose syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13503"	"ZBTB20"	"OMIM:259050"	"Primrose syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-08-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13495"	"2023-08-19"
"GENCC_000101-HGNC_14881-OMIM_235730-HP_0000006-GENCC_100001"	"HGNC:14881"	"ZEB2"	"MONDO:0009341"	"Mowat-Wilson syndrome"	"OMIM:235730"	"Mowat-Wilson syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14881"	"ZEB2"	"OMIM:235730"	"Mowat-Wilson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:29"	""	""	""	"PMID: 28106320"	"3593"	"2020-12-24"
"GENCC_000101-HGNC_18791-OMIM_601410-HP_0000007-GENCC_100003"	"HGNC:18791"	"ZFP57"	"MONDO:0011073"	"diabetes mellitus, transient neonatal, 1"	"OMIM:601410"	"{Diabetes mellitus, transient neonatal 1}"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18791"	"ZFP57"	"OMIM:601410"	"Diabetes mellitus, transient neonatal 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-26 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67711"	"2025-01-17"
"GENCC_000101-HGNC_12872-OMIM_616602-HP_0000006-GENCC_100003"	"HGNC:12872"	"ZIC1"	"MONDO:0014705"	"craniosynostosis 6"	"OMIM:616602"	"?Craniosynostosis 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12872"	"ZIC1"	"OMIM:616602"	"Craniosynostosis 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:29"	""	""	""	"PMID: 28106320"	"4707"	"2020-12-24"
"GENCC_000101-HGNC_12877-OMIM_275210-HP_0000007-GENCC_100002"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0010143"	"lethal restrictive dermopathy"	"OMIM:275210"	"Restrictive dermopathy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12877"	"ZMPSTE24"	"OMIM:275210"	"Restrictive dermopathy, lethal"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-22 13:32:30"	""	""	""	"PMID: 28106320"	"82613"	"2020-12-24"
"GENCC_000101-HGNC_12877-OMIM_608612-HP_0000007-GENCC_100003"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0012074"	"mandibuloacral dysplasia with type B lipodystrophy"	"OMIM:608612"	"Mandibuloacral dysplasia with type B lipodystrophy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12877"	"ZMPSTE24"	"OMIM:608612"	"Mandibuloacral dysplasia with type B lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-22 13:32:30"	""	""	""	"PMID: 28106320"	"82613"	"2020-12-24"
"GENCC_000101-HGNC_19412-OMIM_615444-HP_0000007-GENCC_100002"	"HGNC:19412"	"ZMYND10"	"MONDO:0014192"	"primary ciliary dyskinesia 22"	"OMIM:615444"	"Ciliary dyskinesia, primary, 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19412"	"ZMYND10"	"OMIM:615444"	"Ciliary dyskinesia, primary, 22"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:32:30"	""	""	""	"PMID: 28106320"	"78910"	"2020-12-24"
"GENCC_000101-HGNC_12927-OMIM_618425-HP_0000007-GENCC_100003"	"HGNC:12927"	"ZNF142"	"MONDO:0032741"	"neurodevelopmental disorder with impaired speech and hyperkinetic movements"	"OMIM:618425"	"Neurodevelopmental disorder with impaired speech and hyperkinetic movements"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12927"	"ZNF142"	"OMIM:618425"	"Neurodevelopmental disorder with impaired speech and hyperkinetic movements"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-02-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11565"	"2023-08-19"
"GENCC_000101-HGNC_29222-OMIM_614167-HP_0000006-GENCC_100004"	"HGNC:29222"	"ZNF644"	"MONDO:0013604"	"myopia 21, autosomal dominant"	"OMIM:614167"	"Myopia 21, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29222"	"ZNF644"	"OMIM:614167"	"Myopia 21, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:32:30"	""	""	""	"PMID: 28106320"	"50801"	"2020-12-24"
"GENCC_000101-HGNC_29277-OMIM_616833-HP_0000006-GENCC_100004"	"HGNC:29277"	"ZNF687"	"MONDO:0014792"	"Paget disease of bone 6"	"OMIM:616833"	"Paget disease of bone 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29277"	"ZNF687"	"OMIM:616833"	"Paget disease of bone 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-10 13:32:31"	""	""	""	"PMID: 28106320"	"74736"	"2020-12-24"
"GENCC_000101-HGNC_13666-OMIM_231550-HP_0000007-GENCC_100001"	"HGNC:13666"	"AAAS"	"MONDO:0009279"	"triple-A syndrome"	"OMIM:231550"	"Achalasia-addisonianism-alacrimia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13666"	"AAAS"	"OMIM:231550"	"Achalasia-addisonianism-alacrimia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-01 13:32:33"	""	""	""	"PMID: 28106320"	"5251"	"2021-03-02"
"GENCC_000101-HGNC_17366-OMIM_238700-HP_0000007-GENCC_100003"	"HGNC:17366"	"AASS"	"MONDO:0009388"	"hyperlysinemia"	"OMIM:238700"	"Hyperlysinemia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17366"	"AASS"	"OMIM:238700"	"Hyperlysinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-14 13:32:33"	""	""	""	"PMID: 28106320"	"82874"	"2021-03-02"
"GENCC_000101-HGNC_23-OMIM_613163-HP_0000007-GENCC_100003"	"HGNC:23"	"ABAT"	"MONDO:0013166"	"GABA aminotransaminase deficiency"	"OMIM:613163"	"GABA-transaminase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23"	"ABAT"	"OMIM:613163"	"GABA-transaminase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-07 12:08:07"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"98287"	"2025-01-17"
"GENCC_000101-HGNC_32-OMIM_618808-HP_0000007-GENCC_100003"	"HGNC:32"	"ABCA2"	"MONDO:0032930"	"intellectual developmental disorder with poor growth and with or without seizures or ataxia"	"OMIM:618808"	"Intellectual developmental disorder with poor growth and with or without seizures or ataxia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32"	"ABCA2"	"OMIM:618808"	"Intellectual developmental disorder with poor growth and with or without seizures or ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-02 12:08:07"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14823"	"2025-01-17"
"GENCC_000101-HGNC_35-OMIM_135400-HP_0000007-GENCC_100004"	"HGNC:35"	"ABCA5"	"MONDO:0007610"	"gingival fibromatosis-hypertrichosis syndrome"	"OMIM:135400"	"?Hypertrichosis, congenital generalized, with gingival hyperplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:35"	"ABCA5"	"OMIM:135400"	"Hypertrichosis, congenital generalized, with gingival hyperplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-18 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"3621"	"2023-08-19"
"GENCC_000101-HGNC_45-OMIM_600803-HP_0032113-GENCC_100001"	"HGNC:45"	"ABCB4"	"MONDO:0010939"	"low phospholipid associated cholelithiasis"	"OMIM:600803"	"Gallbladder disease 1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:45"	"ABCB4"	"OMIM:600803"	"Gallbladder disease 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-04-14 00:00:00"	""	""	""	"PMID: 28106320"	"76001"	"2021-03-02"
"GENCC_000101-HGNC_59-OMIM_618857-HP_0032113-GENCC_100001"	"HGNC:59"	"ABCC8"	"MONDO:0030088"	"diabetes mellitus, permanent neonatal 3"	"OMIM:618857"	"Diabetes mellitus, permanent neonatal 3, with or without neurologic features"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:59"	"ABCC8"	"OMIM:618857"	"Diabetes mellitus, permanent neonatal 3, with or without neurologic features"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2019-04-26 13:32:35"	""	""	""	"PMID: 28106320"	"1599"	"2021-03-02"
"GENCC_000101-HGNC_59-OMIM_256450-HP_0032113-GENCC_100001"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"OMIM:256450"	"Hyperinsulinemic hypoglycemia, familial, 1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:59"	"ABCC8"	"OMIM:256450"	"Hyperinsulinemic hypoglycemia, familial, 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-10-12 00:00:00"	""	""	""	"PMID: 28106320"	"15991"	"2021-03-02"
"GENCC_000101-HGNC_60-OMIM_239850-HP_0000006-GENCC_100002"	"HGNC:60"	"ABCC9"	"MONDO:0009406"	"hypertrichotic osteochondrodysplasia Cantu type"	"OMIM:239850"	"Hypertrichotic osteochondrodysplasia (Cantu syndrome)"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:60"	"ABCC9"	"OMIM:239850"	"Hypertrichotic osteochondrodysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-01 13:32:35"	""	""	""	"PMID: 28106320"	"82212"	"2021-03-02"
"GENCC_000101-HGNC_60-OMIM_608569-HP_0000006-GENCC_100003"	"HGNC:60"	"ABCC9"	"MONDO:0012062"	"dilated cardiomyopathy 1O"	"OMIM:608569"	"Cardiomyopathy, dilated, 1O"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:60"	"ABCC9"	"OMIM:608569"	"Cardiomyopathy, dilated, 1O"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-01 13:32:35"	""	""	""	"PMID: 28106320"	"822121"	"2021-03-02"
"GENCC_000101-HGNC_87-OMIM_611283-HP_0000007-GENCC_100002"	"HGNC:87"	"ACAD8"	"MONDO:0012648"	"isobutyryl-CoA dehydrogenase deficiency"	"OMIM:611283"	"Isobutyryl-CoA dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:87"	"ACAD8"	"OMIM:611283"	"Isobutyryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-04 13:32:35"	""	""	""	"PMID: 28106320"	"64290"	"2021-03-02"
"GENCC_000101-HGNC_90-OMIM_201470-HP_0000007-GENCC_100001"	"HGNC:90"	"ACADS"	"MONDO:0008722"	"short chain acyl-CoA dehydrogenase deficiency"	"OMIM:201470"	"Acyl-CoA dehydrogenase, short-chain, deficiency of"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:90"	"ACADS"	"OMIM:201470"	"Acyl-CoA dehydrogenase, short-chain, deficiency of"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-31 13:32:35"	""	""	""	"PMID: 28106320"	"97"	"2021-03-02"
"GENCC_000101-HGNC_91-OMIM_610006-HP_0000007-GENCC_100003"	"HGNC:91"	"ACADSB"	"MONDO:0012392"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"OMIM:610006"	"2-methylbutyrylglycinuria"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:91"	"ACADSB"	"OMIM:610006"	"2-methylbutyrylglycinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:32:35"	""	""	""	"PMID: 28106320"	"91"	"2021-03-02"
"GENCC_000101-HGNC_93-OMIM_203750-HP_0000007-GENCC_100001"	"HGNC:93"	"ACAT1"	"MONDO:0008760"	"beta-ketothiolase deficiency"	"OMIM:203750"	"Alpha-methylacetoacetic aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:93"	"ACAT1"	"OMIM:203750"	"Alpha-methylacetoacetic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-04 13:32:35"	""	""	""	"PMID: 28106320"	"95"	"2021-03-02"
"GENCC_000101-HGNC_94-OMIM_614055-HP_0000007-GENCC_100004"	"HGNC:94"	"ACAT2"	"MONDO:0013548"	"acetyl-CoA acetyltransferase-2 deficiency"	"OMIM:614055"	"?ACAT2 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:94"	"ACAT2"	"OMIM:614055"	"ACAT2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-23 13:32:35"	""	""	""	"PMID: 28106320"	"93"	"2021-03-02"
"GENCC_000101-HGNC_2707-OMIM_614519-HP_0000005-GENCC_100004"	"HGNC:2707"	"ACE"	"MONDO:0013792"	"intracerebral hemorrhage"	"OMIM:614519"	"{Stroke, hemorrhagic}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2707"	"ACE"	"OMIM:614519"	"Stroke, hemorrhagic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-04 13:32:36"	""	""	""	"PMID: 28106320"	"8191"	"2021-03-02"
"GENCC_000101-HGNC_2707-OMIM_267430-HP_0000007-GENCC_100004"	"HGNC:2707"	"ACE"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"OMIM:267430"	"Renal tubular dysgenesis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2707"	"ACE"	"OMIM:267430"	"Renal tubular dysgenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-04 13:32:36"	""	""	""	"PMID: 28106320"	"81911"	"2021-03-02"
"GENCC_000101-HGNC_119-OMIM_264470-HP_0000007-GENCC_100002"	"HGNC:119"	"ACOX1"	"MONDO:0009919"	"peroxisomal acyl-CoA oxidase deficiency"	"OMIM:264470"	"Peroxisomal acyl-CoA oxidase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:119"	"ACOX1"	"OMIM:264470"	"Peroxisomal acyl-CoA oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-04 13:32:36"	""	""	""	"PMID: 28106320"	"78"	"2021-03-02"
"GENCC_000101-HGNC_143-OMIM_612098-HP_0000006-GENCC_100002"	"HGNC:143"	"ACTC1"	"MONDO:0012799"	"hypertrophic cardiomyopathy 11"	"OMIM:612098"	"Cardiomyopathy, hypertrophic, 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:143"	"ACTC1"	"OMIM:612098"	"Cardiomyopathy, hypertrophic, 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-04 13:32:36"	""	""	""	"PMID: 28106320"	"42"	"2021-03-02"
"GENCC_000101-HGNC_160-OMIM_618468-HP_0000007-GENCC_100002"	"HGNC:160"	"ACTL6B"	"MONDO:0032768"	"developmental and epileptic encephalopathy, 76"	"OMIM:618468"	"Developmental and epileptic encephalopathy 76"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:160"	"ACTL6B"	"OMIM:618468"	"Epileptic encephalopathy, early infantile, 76"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-01-27 13:32:36"	""	""	""	"PMID: 28106320"	"78086"	"2021-03-02"
"GENCC_000101-HGNC_163-OMIM_615193-HP_0000006-GENCC_100003"	"HGNC:163"	"ACTN1"	"MONDO:0014078"	"platelet-type bleeding disorder 15"	"OMIM:615193"	"Bleeding disorder, platelet-type, 15"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:163"	"ACTN1"	"OMIM:615193"	"Bleeding disorder, platelet-type, 15"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:36"	""	""	""	"PMID: 28106320"	"54"	"2021-03-02"
"GENCC_000101-HGNC_166-OMIM_603278-HP_0000006-GENCC_100003"	"HGNC:166"	"ACTN4"	"MONDO:0011303"	"focal segmental glomerulosclerosis 1"	"OMIM:603278"	"Glomerulosclerosis, focal segmental, 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:166"	"ACTN4"	"OMIM:603278"	"Glomerulosclerosis, focal segmental, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-25 13:32:37"	""	""	""	"PMID: 28106320"	"58"	"2021-03-02"
"GENCC_000101-HGNC_188-OMIM_615537-HP_0000006-GENCC_100003"	"HGNC:188"	"ADAM10"	"MONDO:0014234"	"reticulate acropigmentation of Kitamura"	"OMIM:615537"	"Reticulate acropigmentation of Kitamura"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:188"	"ADAM10"	"OMIM:615537"	"Reticulate acropigmentation of Kitamura"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:37"	""	""	""	"PMID: 28106320"	"826"	"2021-03-02"
"GENCC_000101-HGNC_201-OMIM_617933-HP_0000007-GENCC_100003"	"HGNC:201"	"ADAM22"	"MONDO:0033370"	"developmental and epileptic encephalopathy, 61"	"OMIM:617933"	"Developmental and epileptic encephalopathy 61"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:201"	"ADAM22"	"OMIM:617933"	"Epileptic encephalopathy, early infantile, 61"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-19 13:32:38"	""	""	""	"PMID: 28106320"	"79181"	"2021-03-02"
"GENCC_000101-HGNC_216-OMIM_612775-HP_0000007-GENCC_100003"	"HGNC:216"	"ADAM9"	"MONDO:0013002"	"cone-rod dystrophy 9"	"OMIM:612775"	"Cone-rod dystrophy 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:216"	"ADAM9"	"OMIM:612775"	"Cone-rod dystrophy 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:38"	""	""	""	"PMID: 28106320"	"5470"	"2021-03-02"
"GENCC_000101-HGNC_13201-OMIM_277600-HP_0000007-GENCC_100003"	"HGNC:13201"	"ADAMTS10"	"MONDO:0010194"	"Weill-Marchesani syndrome 1"	"OMIM:277600"	"Weill-Marchesani syndrome 1, recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13201"	"ADAMTS10"	"OMIM:277600"	"Weill-Marchesani syndrome 1, recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:32:39"	""	""	""	"PMID: 28106320"	"58430"	"2021-03-02"
"GENCC_000101-HGNC_17109-OMIM_613195-HP_0000007-GENCC_100003"	"HGNC:17109"	"ADAMTS17"	"MONDO:0013176"	"Weill-Marchesani 4 syndrome, recessive"	"OMIM:613195"	"Weill-Marchesani 4 syndrome, recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17109"	"ADAMTS17"	"OMIM:613195"	"Weill-Marchesani 4 syndrome, recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:32:39"	""	""	""	"PMID: 28106320"	"842138"	"2021-03-02"
"GENCC_000101-HGNC_14631-OMIM_231050-HP_0000007-GENCC_100002"	"HGNC:14631"	"ADAMTSL2"	"MONDO:0009269"	"geleophysic dysplasia 1"	"OMIM:231050"	"Geleophysic dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14631"	"ADAMTSL2"	"OMIM:231050"	"Geleophysic dysplasia 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-04 13:32:40"	""	""	""	"PMID: 28106320"	"3483"	"2021-03-02"
"GENCC_000101-HGNC_226-OMIM_618862-HP_0000007-GENCC_100003"	"HGNC:226"	"ADARB1"	"MONDO:0030025"	"neurodevelopmental disorder with hypotonia, microcephaly, and seizures"	"OMIM:618862"	"Neurodevelopmental disorder with hypotonia, microcephaly, and seizures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:226"	"ADARB1"	"OMIM:618862"	"Neurodevelopmental disorder with hypotonia, microcephaly, and seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-03 13:32:40"	""	""	""	"PMID: 28106320"	"820"	"2021-03-02"
"GENCC_000101-HGNC_25151-OMIM_615286-HP_0000007-GENCC_100003"	"HGNC:25151"	"ADAT3"	"MONDO:0014119"	"intellectual disability-strabismus syndrome"	"OMIM:615286"	"Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25151"	"ADAT3"	"OMIM:615286"	"Mental retardation, autosomal recessive 36"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-14 13:32:41"	""	""	""	"PMID: 28106320"	"889843"	"2021-03-02"
"GENCC_000101-HGNC_237-OMIM_616287-HP_0000007-GENCC_100003"	"HGNC:237"	"ADCY6"	"MONDO:0014570"	"lethal congenital contracture syndrome 8"	"OMIM:616287"	"Lethal congenital contracture syndrome 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:237"	"ADCY6"	"OMIM:616287"	"Lethal congenital contracture syndrome 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-23 13:32:41"	""	""	""	"PMID: 28106320"	"886"	"2021-03-02"
"GENCC_000101-HGNC_245-OMIM_617008-HP_0000007-GENCC_100004"	"HGNC:245"	"ADD3"	"MONDO:0014862"	"cerebral palsy, spastic quadriplegic, 3"	"OMIM:617008"	"Cerebral palsy, spastic quadriplegic, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:245"	"ADD3"	"OMIM:617008"	"Cerebral palsy, spastic quadriplegic, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-19 13:32:42"	""	""	""	"PMID: 28106320"	"862"	"2021-03-02"
"GENCC_000101-HGNC_4512-OMIM_606854-HP_0000007-GENCC_100001"	"HGNC:4512"	"ADGRG1"	"MONDO:0011738"	"bilateral frontoparietal polymicrogyria"	"OMIM:606854"	"Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4512"	"ADGRG1"	"OMIM:606854"	"Polymicrogyria, bilateral frontoparietal"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-07 13:32:42"	""	""	""	"PMID: 28106320"	"3653"	"2021-03-02"
"GENCC_000101-HGNC_13841-OMIM_616503-HP_0000007-GENCC_100003"	"HGNC:13841"	"ADGRG6"	"MONDO:0014670"	"lethal congenital contracture syndrome 9"	"OMIM:616503"	"Lethal congenital contracture syndrome 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13841"	"ADGRG6"	"OMIM:616503"	"Lethal congenital contracture syndrome 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-05-21 00:00:00"	""	""	""	"PMID: 28106320"	"74688"	"2021-03-02"
"GENCC_000101-HGNC_303-OMIM_618000-HP_0000007-GENCC_100003"	"HGNC:303"	"AEBP1"	"MONDO:0054813"	"Ehlers-Danlos syndrome, classic-like, 2"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:303"	"AEBP1"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-06 13:32:43"	""	""	""	"PMID: 28106320"	"817"	"2021-03-02"
"GENCC_000101-HGNC_17258-OMIM_618276-HP_0000007-GENCC_100002"	"HGNC:17258"	"AGTPBP1"	"MONDO:0032650"	"neurodegeneration, childhood-onset, with cerebellar atrophy"	"OMIM:618276"	"Neurodegeneration, childhood-onset, with cerebellar atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17258"	"AGTPBP1"	"OMIM:618276"	"Neurodegeneration, childhood-onset, with cerebellar atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-05-19 13:32:43"	""	""	""	"PMID: 28106320"	"69654"	"2021-03-02"
"GENCC_000101-HGNC_21575-OMIM_608629-HP_0000007-GENCC_100001"	"HGNC:21575"	"AHI1"	"MONDO:0012078"	"Joubert syndrome 3"	"OMIM:608629"	"Joubert syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21575"	"AHI1"	"OMIM:608629"	"Joubert syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-04 13:32:43"	""	""	""	"PMID: 28106320"	"70521"	"2021-03-02"
"GENCC_000101-HGNC_13203-OMIM_605258-HP_0000007-GENCC_100001"	"HGNC:13203"	"AICDA"	"MONDO:0011528"	"hyper-IgM syndrome type 2"	"OMIM:605258"	"Immunodeficiency with hyper-IgM, type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13203"	"AICDA"	"OMIM:605258"	"Immunodeficiency with hyper-IgM, type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:44"	""	""	""	"PMID: 28106320"	"74943"	"2021-03-02"
"GENCC_000101-HGNC_20091-OMIM_617965-HP_0000007-GENCC_100004"	"HGNC:20091"	"AK7"	"MONDO:0054731"	"spermatogenic failure 27"	"OMIM:617965"	"?Spermatogenic failure 27"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20091"	"AK7"	"OMIM:617965"	"Spermatogenic failure 27"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-22 13:32:45"	""	""	""	"PMID: 28106320"	"8660581"	"2021-03-02"
"GENCC_000101-HGNC_379-OMIM_611820-HP_0000006-GENCC_100004"	"HGNC:379"	"AKAP9"	"MONDO:0012738"	"long QT syndrome 11"	"OMIM:611820"	"?Long QT syndrome 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:379"	"AKAP9"	"OMIM:611820"	"Long QT syndrome 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"927"	"2023-08-19"
"GENCC_000101-HGNC_387-OMIM_614279-HP_0000007-GENCC_100004"	"HGNC:387"	"AKR1C4"	"MONDO:0013664"	"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"	"OMIM:614279"	"{46XY sex reversal 8, modifier of}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:387"	"AKR1C4"	"OMIM:614279"	"46XY sex reversal 8, modifier of"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-05 13:32:46"	""	""	""	"PMID: 28106320"	"8823"	"2021-03-02"
"GENCC_000101-HGNC_395-OMIM_612740-HP_0000007-GENCC_100003"	"HGNC:395"	"ALAD"	"MONDO:0013000"	"porphyria due to ALA dehydratase deficiency"	"OMIM:612740"	"{Lead poisoning, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:395"	"ALAD"	"OMIM:612740"	"Porphyria, acute hepatic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-03 13:32:46"	""	""	""	"PMID: 28106320"	"682"	"2021-03-02"
"GENCC_000101-HGNC_9722-OMIM_219150-HP_0000007-GENCC_100003"	"HGNC:9722"	"ALDH18A1"	"MONDO:0009053"	"ALDH18A1-related de Barsy syndrome"	"OMIM:219150"	"Cutis laxa, autosomal recessive, type IIIA"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9722"	"ALDH18A1"	"OMIM:219150"	"Cutis laxa, autosomal recessive, type IIIA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-02 13:32:46"	""	""	""	"PMID: 28106320"	"7596"	"2021-03-02"
"GENCC_000101-HGNC_9722-OMIM_616603-HP_0000006-GENCC_100003"	"HGNC:9722"	"ALDH18A1"	"MONDO:0014706"	"cutis laxa, autosomal dominant 3"	"OMIM:616603"	"Cutis laxa, autosomal dominant 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9722"	"ALDH18A1"	"OMIM:616603"	"Cutis laxa, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-02 13:32:46"	""	""	""	"PMID: 28106320"	"75961"	"2021-03-02"
"GENCC_000101-HGNC_9722-OMIM_219150-HP_0000006-GENCC_100003"	"HGNC:9722"	"ALDH18A1"	"MONDO:0009053"	"ALDH18A1-related de Barsy syndrome"	"OMIM:219150"	"Cutis laxa, autosomal recessive, type IIIA"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9722"	"ALDH18A1"	"OMIM:219150"	"Cutis laxa, autosomal recessive, type IIIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-02 13:32:46"	""	""	""	"PMID: 28106320"	"75962"	"2021-03-02"
"GENCC_000101-HGNC_9722-OMIM_616586-HP_0000007-GENCC_100004"	"HGNC:9722"	"ALDH18A1"	"MONDO:0014702"	"autosomal recessive complex spastic paraplegia type 9B"	"OMIM:616586"	"Spastic paraplegia 9B, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9722"	"ALDH18A1"	"OMIM:616586"	"Spastic paraplegia 9B, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-02 13:32:46"	""	""	""	"PMID: 28106320"	"75963"	"2021-03-02"
"GENCC_000101-HGNC_9722-OMIM_601162-HP_0032113-GENCC_100003"	"HGNC:9722"	"ALDH18A1"	"MONDO:0011006"	"hereditary spastic paraplegia 9A"	"OMIM:601162"	"Spastic paraplegia 9A, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9722"	"ALDH18A1"	"OMIM:601162"	"Spastic paraplegia 9A, autosomal dominant"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-02 13:32:47"	""	""	""	"PMID: 28106320"	"75964"	"2021-03-02"
"GENCC_000101-HGNC_9722-OMIM_616603-HP_0032113-GENCC_100003"	"HGNC:9722"	"ALDH18A1"	"MONDO:0014706"	"cutis laxa, autosomal dominant 3"	"OMIM:616603"	"Cutis laxa, autosomal dominant 3"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9722"	"ALDH18A1"	"OMIM:616603"	"Cutis laxa, autosomal dominant 3"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-02 13:32:47"	""	""	""	"PMID: 28106320"	"75965"	"2021-03-02"
"GENCC_000101-HGNC_7179-OMIM_614105-HP_0000007-GENCC_100003"	"HGNC:7179"	"ALDH6A1"	"MONDO:0013579"	"methylmalonate semialdehyde dehydrogenase deficiency"	"OMIM:614105"	"Methylmalonate semialdehyde dehydrogenase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7179"	"ALDH6A1"	"OMIM:614105"	"Methylmalonate semialdehyde dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:47"	""	""	""	"PMID: 28106320"	"0963"	"2021-03-02"
"GENCC_000101-HGNC_417-OMIM_229600-HP_0000007-GENCC_100001"	"HGNC:417"	"ALDOB"	"MONDO:0009249"	"hereditary fructose intolerance"	"OMIM:229600"	"Fructose intolerance, hereditary"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:417"	"ALDOB"	"OMIM:229600"	"Fructose intolerance, hereditary"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-04 13:32:47"	""	""	""	"PMID: 28106320"	"663"	"2021-03-02"
"GENCC_000101-HGNC_18294-OMIM_608540-HP_0000007-GENCC_100001"	"HGNC:18294"	"ALG1"	"MONDO:0012052"	"ALG1-congenital disorder of glycosylation"	"OMIM:608540"	"Congenital disorder of glycosylation, type Ik"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18294"	"ALG1"	"OMIM:608540"	"Congenital disorder of glycosylation, type Ik"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:47"	""	""	""	"PMID: 28106320"	"71276"	"2021-03-02"
"GENCC_000101-HGNC_32456-OMIM_613661-HP_0000007-GENCC_100003"	"HGNC:32456"	"ALG11"	"MONDO:0013349"	"ALG11-congenital disorder of glycosylation"	"OMIM:613661"	"Congenital disorder of glycosylation, type Ip"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32456"	"ALG11"	"OMIM:613661"	"Congenital disorder of glycosylation, type Ip"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-28 13:32:47"	""	""	""	"PMID: 28106320"	"002895"	"2021-03-02"
"GENCC_000101-HGNC_19358-OMIM_607143-HP_0000007-GENCC_100003"	"HGNC:19358"	"ALG12"	"MONDO:0011783"	"ALG12-congenital disorder of glycosylation"	"OMIM:607143"	"Congenital disorder of glycosylation, type Ig"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19358"	"ALG12"	"OMIM:607143"	"Congenital disorder of glycosylation, type Ig"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:32:47"	""	""	""	"PMID: 28106320"	"43254"	"2021-03-02"
"GENCC_000101-HGNC_30881-OMIM_300884-HP_0001417-GENCC_100004"	"HGNC:30881"	"ALG13"	"MONDO:0010472"	"developmental and epileptic encephalopathy, 36"	"OMIM:300884"	"Developmental and epileptic encephalopathy 36"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30881"	"ALG13"	"OMIM:300884"	"Congenital disorder of glycosylation, type Is"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-16 13:32:47"	""	""	""	"PMID: 28106320"	"43515"	"2021-03-02"
"GENCC_000101-HGNC_30881-OMIM_300884-HP_0001417-GENCC_100002"	"HGNC:30881"	"ALG13"	"MONDO:0010472"	"developmental and epileptic encephalopathy, 36"	"OMIM:300884"	"Developmental and epileptic encephalopathy 36"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30881"	"ALG13"	"OMIM:300884"	"Developmental and epileptic encephalopathy 36"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-07-16 13:32:47"	""	""	""	"PMID: 28106320"	"435151"	"2021-03-02"
"GENCC_000101-HGNC_23161-OMIM_608104-HP_0000007-GENCC_100003"	"HGNC:23161"	"ALG8"	"MONDO:0011969"	"ALG8-congenital disorder of glycosylation"	"OMIM:608104"	"Congenital disorder of glycosylation, type Ih"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23161"	"ALG8"	"OMIM:608104"	"Congenital disorder of glycosylation, type Ih"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:32:47"	""	""	""	"PMID: 28106320"	"43279"	"2021-03-02"
"GENCC_000101-HGNC_23161-OMIM_617874-HP_0000006-GENCC_100004"	"HGNC:23161"	"ALG8"	"MONDO:0054743"	"polycystic liver disease 3 with or without kidney cysts"	"OMIM:617874"	"Polycystic liver disease 3 with or without kidney cysts"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23161"	"ALG8"	"OMIM:617874"	"Polycystic liver disease 3 with or without kidney cysts"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-06-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14556"	"2023-08-19"
"GENCC_000101-HGNC_15672-OMIM_608776-HP_0000007-GENCC_100004"	"HGNC:15672"	"ALG9"	"MONDO:0012117"	"ALG9-congenital disorder of glycosylation"	"OMIM:608776"	"Congenital disorder of glycosylation, type Il"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15672"	"ALG9"	"OMIM:608776"	"Congenital disorder of glycosylation, type Il"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:32:48"	""	""	""	"PMID: 28106320"	"43431"	"2021-03-02"
"GENCC_000101-HGNC_15672-OMIM_263210-HP_0000007-GENCC_100003"	"HGNC:15672"	"ALG9"	"MONDO:0009890"	"Gillessen-Kaesbach-Nishimura syndrome"	"OMIM:263210"	"Gillessen-Kaesbach-Nishimura syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15672"	"ALG9"	"OMIM:263210"	"Gillessen-Kaesbach-Nishimura syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:32:48"	""	""	""	"PMID: 28106320"	"434311"	"2021-03-02"
"GENCC_000101-HGNC_25189-OMIM_618504-HP_0000007-GENCC_100004"	"HGNC:25189"	"ALKBH8"	"MONDO:0032789"	"intellectual developmental disorder, autosomal recessive 71"	"OMIM:618504"	"Intellectual developmental disorder, autosomal recessive 71"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25189"	"ALKBH8"	"OMIM:618504"	"Intellectual developmental disorder, autosomal recessive 71"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11591"	"2023-08-19"
"GENCC_000101-HGNC_450-OMIM_609597-HP_0000006-GENCC_100003"	"HGNC:450"	"ALX4"	"MONDO:0012309"	"parietal foramina 2"	"OMIM:609597"	"Parietal foramina 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:450"	"ALX4"	"OMIM:609597"	"Parietal foramina 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:32:49"	""	""	""	"PMID: 28106320"	"12763"	"2021-03-02"
"GENCC_000101-HGNC_450-OMIM_613451-HP_0000007-GENCC_100003"	"HGNC:450"	"ALX4"	"MONDO:0013268"	"frontonasal dysplasia with alopecia and genital anomaly"	"OMIM:613451"	"Frontonasal dysplasia 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:450"	"ALX4"	"OMIM:613451"	"Frontonasal dysplasia 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:32:49"	""	""	""	"PMID: 28106320"	"127631"	"2021-03-02"
"GENCC_000101-HGNC_461-OMIM_301200-HP_0001417-GENCC_100002"	"HGNC:461"	"AMELX"	"MONDO:0010521"	"amelogenesis imperfecta type 1E"	"OMIM:301200"	"Amelogenesis imperfecta, type 1E"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:461"	"AMELX"	"OMIM:301200"	"Amelogenesis imperfecta, type 1E"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-23 13:32:49"	""	""	""	"PMID: 28106320"	"617"	"2021-03-02"
"GENCC_000101-HGNC_465-OMIM_261550-HP_0000007-GENCC_100002"	"HGNC:465"	"AMHR2"	"MONDO:0009857"	"persistent Mullerian duct syndrome"	"OMIM:261550"	"Persistent Mullerian duct syndrome, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:465"	"AMHR2"	"OMIM:261550"	"Persistent Mullerian duct syndrome, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-31 13:32:50"	""	""	""	"PMID: 28106320"	"613"	"2021-03-02"
"GENCC_000101-HGNC_19988-OMIM_618625-HP_0000007-GENCC_100004"	"HGNC:19988"	"ANAPC1"	"MONDO:0016368"	"Rothmund-Thomson syndrome type 1"	"OMIM:618625"	"Rothmund-Thomson syndrome, type 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19988"	"ANAPC1"	"OMIM:618625"	"Rothmund-Thomson syndrome, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-09-10 13:32:50"	""	""	""	"PMID: 28106320"	"10156"	"2021-03-02"
"GENCC_000101-HGNC_483-OMIM_611895-HP_0000006-GENCC_100001"	"HGNC:483"	"ANG"	"MONDO:0012753"	"amyotrophic lateral sclerosis type 9"	"OMIM:611895"	"Amyotrophic lateral sclerosis 9"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:483"	"ANG"	"OMIM:611895"	"Amyotrophic lateral sclerosis 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-23 13:32:50"	""	""	""	"PMID: 28106320"	"659"	"2021-03-02"
"GENCC_000101-HGNC_494-OMIM_615493-HP_0000007-GENCC_100004"	"HGNC:494"	"ANK3"	"MONDO:0014210"	"intellectual disability-hypotonia-spasticity-sleep disorder syndrome"	"OMIM:615493"	"Intellectual developmental disorder, autosomal recessive 37"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:494"	"ANK3"	"OMIM:615493"	"Mental retardation, autosomal recessive, 37"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-14 13:32:51"	""	""	""	"PMID: 28106320"	"6551"	"2021-03-02"
"GENCC_000101-HGNC_29101-OMIM_616681-HP_0000007-GENCC_100003"	"HGNC:29101"	"ANKLE2"	"MONDO:0014730"	"microcephaly 16, primary, autosomal recessive"	"OMIM:616681"	"Microcephaly 16, primary, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29101"	"ANKLE2"	"OMIM:616681"	"Microcephaly 16, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-23 13:32:51"	""	""	""	"PMID: 28106320"	"69808"	"2021-03-02"
"GENCC_000101-HGNC_21316-OMIM_148050-HP_0000006-GENCC_100001"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG syndrome"	"OMIM:148050"	"KBG syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21316"	"ANKRD11"	"OMIM:148050"	"KBG syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-07-29 00:00:00"	""	""	""	"PMID: 28106320"	"63869"	"2021-03-02"
"GENCC_000101-HGNC_535-OMIM_617839-HP_0000006-GENCC_100003"	"HGNC:535"	"ANXA11"	"MONDO:0027694"	"amyotrophic lateral sclerosis type 23"	"OMIM:617839"	"Amyotrophic lateral sclerosis 23"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:535"	"ANXA11"	"OMIM:617839"	"Amyotrophic lateral sclerosis 23"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17377"	"2023-08-19"
"GENCC_000101-HGNC_554-OMIM_242150-HP_0000007-GENCC_100003"	"HGNC:554"	"AP1B1"	"MONDO:0009440"	"ichthyosiform erythroderma, corneal involvement, and hearing loss"	"OMIM:242150"	"Keratitis-ichthyosis-deafness syndrome, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:554"	"AP1B1"	"OMIM:242150"	"Keratitis-ichthyosis-deafness syndrome, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-12-04 13:32:52"	""	""	""	"PMID: 28106320"	"816"	"2021-03-02"
"GENCC_000101-HGNC_560-OMIM_304340-HP_0001417-GENCC_100003"	"HGNC:560"	"AP1S2"	"MONDO:0010574"	"syndromic X-linked intellectual disability 5"	"OMIM:304340"	"Pettigrew syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:560"	"AP1S2"	"OMIM:304340"	"Mental retardation, X-linked syndromic 5"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-07-29 00:00:00"	""	""	""	"PMID: 28106320"	"5327"	"2021-03-02"
"GENCC_000101-HGNC_565-OMIM_600740-HP_0000006-GENCC_100002"	"HGNC:565"	"AP2S1"	"MONDO:0010926"	"familial hypocalciuric hypercalcemia 3"	"OMIM:600740"	"Hypocalciuric hypercalcemia, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:565"	"AP2S1"	"OMIM:600740"	"Hypocalciuric hypercalcemia, type III"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:32:52"	""	""	""	"PMID: 28106320"	"8847"	"2021-03-02"
"GENCC_000101-HGNC_568-OMIM_617050-HP_0000007-GENCC_100003"	"HGNC:568"	"AP3D1"	"MONDO:0014885"	"Hermansky-Pudlak syndrome 10"	"OMIM:617050"	"?Hermansky-Pudlak syndrome 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:568"	"AP3D1"	"OMIM:617050"	"Hermansky-Pudlak syndrome 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-21 13:32:52"	""	""	""	"PMID: 28106320"	"5309"	"2021-03-02"
"GENCC_000101-HGNC_573-OMIM_613744-HP_0000007-GENCC_100003"	"HGNC:573"	"AP4E1"	"MONDO:0013401"	"hereditary spastic paraplegia 51"	"OMIM:613744"	"Spastic paraplegia 51, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:573"	"AP4E1"	"OMIM:613744"	"Spastic paraplegia 51, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:32:52"	""	""	""	"PMID: 28106320"	"69098"	"2021-03-02"
"GENCC_000101-HGNC_574-OMIM_612936-HP_0000007-GENCC_100003"	"HGNC:574"	"AP4M1"	"MONDO:0013048"	"hereditary spastic paraplegia 50"	"OMIM:612936"	"Spastic paraplegia 50, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:574"	"AP4M1"	"OMIM:612936"	"Spastic paraplegia 50, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-25 13:32:53"	""	""	""	"PMID: 28106320"	"3843"	"2021-03-02"
"GENCC_000101-HGNC_22197-OMIM_613647-HP_0000007-GENCC_100003"	"HGNC:22197"	"AP5Z1"	"MONDO:0013342"	"hereditary spastic paraplegia 48"	"OMIM:613647"	"Spastic paraplegia 48, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22197"	"AP5Z1"	"OMIM:613647"	"Spastic paraplegia 48, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-20 13:32:53"	""	""	""	"PMID: 28106320"	"3324"	"2021-03-02"
"GENCC_000101-HGNC_24036-OMIM_618677-HP_0000007-GENCC_100003"	"HGNC:24036"	"APC2"	"MONDO:0032866"	"cortical dysplasia, complex, with other brain malformations 10"	"OMIM:618677"	"Cortical dysplasia, complex, with other brain malformations 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24036"	"APC2"	"OMIM:618677"	"Cortical dysplasia, complex, with other brain malformations 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-10-03 13:32:53"	""	""	""	"PMID: 28106320"	"82634"	"2021-03-02"
"GENCC_000101-HGNC_600-OMIM_105200-HP_0000006-GENCC_100002"	"HGNC:600"	"APOA1"	"MONDO:0007099"	"familial visceral amyloidosis"	"OMIM:105200"	"Amyloidosis, hereditary systemic 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:600"	"APOA1"	"OMIM:105200"	"Amyloidosis, 3 or more types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-23 13:32:53"	""	""	""	"PMID: 28106320"	"997"	"2021-03-02"
"GENCC_000101-HGNC_609-OMIM_207750-HP_0032113-GENCC_100002"	"HGNC:609"	"APOC2"	"MONDO:0008810"	"familial apolipoprotein C-II deficiency"	"OMIM:207750"	"Hyperlipoproteinemia, type Ib"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:609"	"APOC2"	"OMIM:207750"	"Hyperlipoproteinemia, type Ib"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-07-12 13:32:53"	""	""	""	"PMID: 28106320"	"900"	"2021-03-02"
"GENCC_000101-HGNC_613-OMIM_104310-HP_0000006-GENCC_100001"	"HGNC:613"	"APOE"	"MONDO:0007089"	"Alzheimer disease 2"	"OMIM:104310"	"Alzheimer disease 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:613"	"APOE"	"OMIM:104310"	"Alzheimer disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-15 13:32:54"	""	""	""	"PMID: 28106320"	"905"	"2021-03-02"
"GENCC_000101-HGNC_613-OMIM_617347-HP_0000007-GENCC_100003"	"HGNC:613"	"APOE"	"MONDO:0018473"	"hyperlipoproteinemia type 3"	"OMIM:617347"	"Hyperlipoproteinemia, type III"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:613"	"APOE"	"OMIM:617347"	"Hyperlipoproteinemia, type III"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-15 13:32:54"	""	""	""	"PMID: 28106320"	"9051"	"2021-03-02"
"GENCC_000101-HGNC_626-OMIM_614723-HP_0000007-GENCC_100001"	"HGNC:626"	"APRT"	"MONDO:0013869"	"adenine phosphoribosyltransferase deficiency"	"OMIM:614723"	"Adenine phosphoribosyltransferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:626"	"APRT"	"OMIM:614723"	"Adenine phosphoribosyltransferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-23 13:32:55"	""	""	""	"PMID: 28106320"	"979"	"2021-03-02"
"GENCC_000101-HGNC_644-OMIM_300068-HP_0001417-GENCC_100001"	"HGNC:644"	"AR"	"MONDO:0019154"	"androgen insensitivity syndrome"	"OMIM:300068"	"Androgen insensitivity"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:644"	"AR"	"OMIM:300068"	"Androgen insensitivity"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-11 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92562"	"2024-01-02"
"GENCC_000101-HGNC_644-OMIM_313200-HP_0001417-GENCC_100002"	"HGNC:644"	"AR"	"MONDO:0010735"	"Kennedy disease"	"OMIM:313200"	"Spinal and bulbar muscular atrophy, X-linked 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:644"	"AR"	"OMIM:313200"	"Spinal and bulbar muscular atrophy of Kennedy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-10-11 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92581"	"2024-01-02"
"GENCC_000101-HGNC_663-OMIM_207800-HP_0000007-GENCC_100001"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"hyperargininemia"	"OMIM:207800"	"Argininemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:663"	"ARG1"	"OMIM:207800"	"Argininemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-14 13:32:55"	""	""	""	"PMID: 28106320"	"959"	"2021-03-02"
"GENCC_000101-HGNC_678-OMIM_615244-HP_0000007-GENCC_100003"	"HGNC:678"	"ARHGDIA"	"MONDO:0014099"	"nephrotic syndrome, type 8"	"OMIM:615244"	"Nephrotic syndrome, type 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:678"	"ARHGDIA"	"OMIM:615244"	"Nephrotic syndrome, type 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-23 13:32:56"	""	""	""	"PMID: 28106320"	"931"	"2021-03-02"
"GENCC_000101-HGNC_18040-OMIM_135900-HP_0000006-GENCC_100002"	"HGNC:18040"	"ARID1B"	"MONDO:0007617"	"Coffin-Siris syndrome 1"	"OMIM:135900"	"Coffin-Siris syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18040"	"ARID1B"	"OMIM:135900"	"Coffin-Siris syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-09-11 00:00:00"	""	""	""	"PMID: 28106320"	"74036"	"2021-03-02"
"GENCC_000101-HGNC_693-OMIM_619082-HP_0000006-GENCC_100004"	"HGNC:693"	"ARL2"	"MONDO:0033644"	"microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1"	"OMIM:619082"	"?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:693"	"ARL2"	"OMIM:619082"	"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-04-19 13:32:57"	""	""	""	"PMID: 28106320"	"026"	"2021-03-02"
"GENCC_000101-HGNC_694-OMIM_618173-HP_0000006-GENCC_100004"	"HGNC:694"	"ARL3"	"MONDO:0032577"	"retinitis pigmentosa 83"	"OMIM:618173"	"Retinitis pigmentosa 83"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:694"	"ARL3"	"OMIM:618173"	"Retinitis pigmentosa 83"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:32:57"	""	""	""	"PMID: 28106320"	"029"	"2021-03-02"
"GENCC_000101-HGNC_25781-OMIM_615954-HP_0000006-GENCC_100001"	"HGNC:25781"	"ARMC5"	"MONDO:0014416"	"ACTH-independent macronodular adrenal hyperplasia 2"	"OMIM:615954"	"{ACTH-independent macronodular adrenal hyperplasia 2}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25781"	"ARMC5"	"OMIM:615954"	"ACTH-independent macronodular adrenal hyperplasia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-28 13:32:57"	""	""	""	"PMID: 28106320"	"43435"	"2021-03-02"
"GENCC_000101-HGNC_710-OMIM_301010-HP_0001417-GENCC_100003"	"HGNC:710"	"ARR3"	"MONDO:0049221"	"myopia 26, X-linked, female-limited"	"OMIM:301010"	"Myopia 26, X-linked, female-limited"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:710"	"ARR3"	"OMIM:301010"	"Myopia 26, X-linked, female-limited"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-01-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17712"	"2023-08-19"
"GENCC_000101-HGNC_713-OMIM_250100-HP_0000007-GENCC_100001"	"HGNC:713"	"ARSA"	"MONDO:0009591"	"metachromatic leukodystrophy, juvenile form"	"OMIM:250100"	"Metachromatic leukodystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:713"	"ARSA"	"OMIM:250100"	"Metachromatic leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:32:58"	""	""	""	"PMID: 28106320"	"082"	"2021-03-02"
"GENCC_000101-HGNC_24102-OMIM_618144-HP_0000007-GENCC_100004"	"HGNC:24102"	"ARSG"	"MONDO:0029141"	"Usher syndrome, type 4"	"OMIM:618144"	"Usher syndrome, type IV"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24102"	"ARSG"	"OMIM:618144"	"Usher syndrome, type IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-29 13:32:58"	""	""	""	"PMID: 28106320"	"66328"	"2021-03-02"
"GENCC_000101-HGNC_18060-OMIM_300215-HP_0001417-GENCC_100002"	"HGNC:18060"	"ARX"	"MONDO:0010268"	"X-linked lissencephaly with abnormal genitalia"	"OMIM:300215"	"Lissencephaly, X-linked 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18060"	"ARX"	"OMIM:300215"	"Lissencephaly, X-linked 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-14 13:32:58"	""	""	""	"PMID: 28106320"	"842926"	"2021-03-02"
"GENCC_000101-HGNC_18060-OMIM_300419-HP_0001417-GENCC_100003"	"HGNC:18060"	"ARX"	"MONDO:0010317"	"intellectual disability, X-linked, with or without seizures, arx-related"	"OMIM:300419"	"Intellectual developmental disorder, X-linked 29"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18060"	"ARX"	"OMIM:300419"	"Mental retardation, X-linked 29 and others"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-14 13:32:58"	""	""	""	"PMID: 28106320"	"8429261"	"2021-03-02"
"GENCC_000101-HGNC_746-OMIM_207900-HP_0000007-GENCC_100001"	"HGNC:746"	"ASL"	"MONDO:0008815"	"argininosuccinic aciduria"	"OMIM:207900"	"Argininosuccinic aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:746"	"ASL"	"OMIM:207900"	"Argininosuccinic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:32:58"	""	""	""	"PMID: 28106320"	"097"	"2021-03-02"
"GENCC_000101-HGNC_25903-OMIM_618011-HP_0000007-GENCC_100003"	"HGNC:25903"	"ATAD1"	"MONDO:0044330"	"hyperekplexia 4"	"OMIM:618011"	"Hyperekplexia 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25903"	"ATAD1"	"OMIM:618011"	"Hyperekplexia 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-11-06 13:32:59"	""	""	""	"PMID: 28106320"	"50531"	"2021-03-02"
"GENCC_000101-HGNC_11231-OMIM_182600-HP_0032113-GENCC_100001"	"HGNC:11231"	"ATL1"	"MONDO:0008437"	"hereditary spastic paraplegia 3A"	"OMIM:182600"	"Spastic paraplegia 3A, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11231"	"ATL1"	"OMIM:182600"	"Spastic paraplegia 3A, autosomal dominant"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:33:00"	""	""	""	"PMID: 28106320"	"78216"	"2021-03-02"
"GENCC_000101-HGNC_11231-OMIM_613708-HP_0000006-GENCC_100003"	"HGNC:11231"	"ATL1"	"MONDO:0013381"	"neuropathy, hereditary sensory, type 1D"	"OMIM:613708"	"Neuropathy, hereditary sensory, type ID"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11231"	"ATL1"	"OMIM:613708"	"Neuropathy, hereditary sensory, type ID"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:00"	""	""	""	"PMID: 28106320"	"782161"	"2021-03-02"
"GENCC_000101-HGNC_24526-OMIM_615632-HP_0000006-GENCC_100003"	"HGNC:24526"	"ATL3"	"MONDO:0014286"	"neuropathy, hereditary sensory, type 1F"	"OMIM:615632"	"Neuropathy, hereditary sensory, type IF"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24526"	"ATL3"	"OMIM:615632"	"Neuropathy, hereditary sensory, type IF"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-07 13:33:01"	""	""	""	"PMID: 28106320"	"67369"	"2021-03-02"
"GENCC_000101-HGNC_795-OMIM_208900-HP_0000007-GENCC_100001"	"HGNC:795"	"ATM"	"MONDO:0008840"	"ataxia telangiectasia"	"OMIM:208900"	"Ataxia-telangiectasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:795"	"ATM"	"OMIM:208900"	"Ataxia-telangiectasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-12-21 00:00:00"	""	""	""	"PMID: 28106320"	"046"	"2021-03-02"
"GENCC_000101-HGNC_795-OMIM_114480-HP_0000006-GENCC_100001"	"HGNC:795"	"ATM"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:795"	"ATM"	"OMIM:114480"	"Breast cancer, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-25 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92451"	"2024-01-02"
"GENCC_000101-HGNC_3033-OMIM_618494-HP_0000006-GENCC_100003"	"HGNC:3033"	"ATN1"	"MONDO:0032781"	"congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"OMIM:618494"	"Congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3033"	"ATN1"	"OMIM:618494"	"Congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-07-15 13:33:01"	""	""	""	"PMID: 28106320"	"8566"	"2021-03-02"
"GENCC_000101-HGNC_801-OMIM_614820-HP_0000006-GENCC_100001"	"HGNC:801"	"ATP1A3"	"MONDO:0013900"	"alternating hemiplegia of childhood 2"	"OMIM:614820"	"Alternating hemiplegia of childhood 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:801"	"ATP1A3"	"OMIM:614820"	"Alternating hemiplegia of childhood 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-03-25 00:00:00"	""	""	""	"PMID: 28106320"	"045"	"2021-03-02"
"GENCC_000101-HGNC_801-OMIM_601338-HP_0000006-GENCC_100001"	"HGNC:801"	"ATP1A3"	"MONDO:0011038"	"cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"	"OMIM:601338"	"CAPOS syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:801"	"ATP1A3"	"OMIM:601338"	"CAPOS syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-22 13:33:01"	""	""	""	"PMID: 28106320"	"451"	"2021-03-02"
"GENCC_000101-HGNC_801-OMIM_128235-HP_0000006-GENCC_100003"	"HGNC:801"	"ATP1A3"	"MONDO:0007496"	"dystonia 12"	"OMIM:128235"	"Dystonia-12"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:801"	"ATP1A3"	"OMIM:128235"	"Dystonia-12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-03-25 00:00:00"	""	""	""	"PMID: 28106320"	"452"	"2021-03-02"
"GENCC_000101-HGNC_811-OMIM_601003-HP_0000007-GENCC_100002"	"HGNC:811"	"ATP2A1"	"MONDO:0010977"	"Brody myopathy"	"OMIM:601003"	"Brody myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:811"	"ATP2A1"	"OMIM:601003"	"Brody myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-13 13:33:02"	""	""	""	"PMID: 28106320"	"544"	"2021-03-02"
"GENCC_000101-HGNC_816-OMIM_302500-HP_0001417-GENCC_100003"	"HGNC:816"	"ATP2B3"	"MONDO:0010547"	"X-linked progressive cerebellar ataxia"	"OMIM:302500"	"?Spinocerebellar ataxia, X-linked 1"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:816"	"ATP2B3"	"OMIM:302500"	"Spinocerebellar ataxia, X-linked 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-21 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92448"	"2025-01-17"
"GENCC_000101-HGNC_868-OMIM_300972-HP_0001417-GENCC_100003"	"HGNC:868"	"ATP6AP1"	"MONDO:0010504"	"immunodeficiency 47"	"OMIM:300972"	"Immunodeficiency 47"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:868"	"ATP6AP1"	"OMIM:300972"	"Immunodeficiency 47"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-22 13:33:03"	""	""	""	"PMID: 28106320"	"794"	"2021-03-02"
"GENCC_000101-HGNC_18305-OMIM_300911-HP_0001417-GENCC_100004"	"HGNC:18305"	"ATP6AP2"	"MONDO:0010482"	"X-linked parkinsonism-spasticity syndrome"	"OMIM:300911"	"?Parkinsonism with spasticity, X-linked"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18305"	"ATP6AP2"	"OMIM:300911"	"Parkinsonism with spasticity, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-27 13:33:03"	""	""	""	"PMID: 28106320"	"82873"	"2021-03-02"
"GENCC_000101-HGNC_18305-OMIM_300423-HP_0001417-GENCC_100003"	"HGNC:18305"	"ATP6AP2"	"MONDO:0010319"	"syndromic X-linked intellectual disability Hedera type"	"OMIM:300423"	"Intellectual developmental disorder, X-linked syndromic, Hedera type"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18305"	"ATP6AP2"	"OMIM:300423"	"Mental retardation, X-linked, syndromic, Hedera type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-02 00:00:00"	""	""	""	"PMID: 28106320"	"828731"	"2021-03-02"
"GENCC_000101-HGNC_866-OMIM_602722-HP_0000007-GENCC_100002"	"HGNC:866"	"ATP6V0A4"	"MONDO:0011268"	"renal tubular acidosis, distal, 3, with or without sensorineural hearing loss"	"OMIM:602722"	"Distal renal tubular acidosis 3, with or without sensorineural hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:866"	"ATP6V0A4"	"OMIM:602722"	"Distal renal tubular acidosis 3, with or without sensorineural hearing loss"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-11-13 13:33:03"	""	""	""	"PMID: 28106320"	"72184"	"2021-03-02"
"GENCC_000101-HGNC_869-OMIM_309400-HP_0001417-GENCC_100001"	"HGNC:869"	"ATP7A"	"MONDO:0010651"	"Menkes disease"	"OMIM:309400"	"Menkes disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:869"	"ATP7A"	"OMIM:309400"	"Menkes disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-10-15 00:00:00"	""	""	""	"PMID: 28106320"	"795"	"2021-03-02"
"GENCC_000101-HGNC_869-OMIM_300489-HP_0001417-GENCC_100003"	"HGNC:869"	"ATP7A"	"MONDO:0010338"	"X-linked distal spinal muscular atrophy type 3"	"OMIM:300489"	"Neuronopathy, distal hereditary motor, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:869"	"ATP7A"	"OMIM:300489"	"Spinal muscular atrophy, distal, X-linked 3"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-20 13:33:04"	""	""	""	"PMID: 28106320"	"7951"	"2021-03-02"
"GENCC_000101-HGNC_18802-OMIM_604273-HP_0000007-GENCC_100004"	"HGNC:18802"	"ATPAF2"	"MONDO:0011421"	"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"	"OMIM:604273"	"?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18802"	"ATPAF2"	"OMIM:604273"	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-21 13:33:04"	""	""	""	"PMID: 28106320"	"38104"	"2021-03-02"
"GENCC_000101-HGNC_886-OMIM_301040-HP_0001417-GENCC_100001"	"HGNC:886"	"ATRX"	"MONDO:0010519"	"alpha thalassemia-X-linked intellectual disability syndrome"	"OMIM:301040"	"Alpha-thalassemia/impaired intellectual development syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:886"	"ATRX"	"OMIM:301040"	"Alpha-thalassemia/mental retardation syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-02 00:00:00"	""	""	""	"PMID: 28106320"	"701"	"2021-03-02"
"GENCC_000101-HGNC_886-OMIM_309580-HP_0001417-GENCC_100003"	"HGNC:886"	"ATRX"	"MONDO:0010663"	"intellectual disability-hypotonic facies syndrome, X-linked, 1"	"OMIM:309580"	"Intellectual disability-hypotonic facies syndrome, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:886"	"ATRX"	"OMIM:309580"	"Mental retardation-hypotonic facies syndrome, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:05"	""	""	""	"PMID: 28106320"	"7011"	"2021-03-02"
"GENCC_000101-HGNC_10555-OMIM_183090-HP_0000006-GENCC_100001"	"HGNC:10555"	"ATXN2"	"MONDO:0008458"	"spinocerebellar ataxia type 2"	"OMIM:183090"	"Spinocerebellar ataxia 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10555"	"ATXN2"	"OMIM:183090"	"Spinocerebellar ataxia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:33:05"	""	""	""	"PMID: 28106320"	"1988"	"2021-03-02"
"GENCC_000101-HGNC_7106-OMIM_109150-HP_0000006-GENCC_100002"	"HGNC:7106"	"ATXN3"	"MONDO:0007182"	"Machado-Joseph disease"	"OMIM:109150"	"Machado-Joseph disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7106"	"ATXN3"	"OMIM:109150"	"Machado-Joseph disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-06-29 13:33:06"	""	""	""	"PMID: 28106320"	"0654"	"2021-03-02"
"GENCC_000101-HGNC_11391-OMIM_243060-HP_0000007-GENCC_100002"	"HGNC:11391"	"AURKC"	"MONDO:0009461"	"spermatogenic failure 5"	"OMIM:243060"	"Spermatogenic failure 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11391"	"AURKC"	"OMIM:243060"	"Spermatogenic failure 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-05 13:33:06"	""	""	""	"PMID: 28106320"	"1437"	"2021-03-02"
"GENCC_000101-HGNC_897-OMIM_300539-HP_0001417-GENCC_100003"	"HGNC:897"	"AVPR2"	"MONDO:0010356"	"nephrogenic syndrome of inappropriate antidiuresis"	"OMIM:300539"	"Nephrogenic syndrome of inappropriate antidiuresis"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:897"	"AVPR2"	"OMIM:300539"	"Nephrogenic syndrome of inappropriate antidiuresis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:06"	""	""	""	"PMID: 28106320"	"7701"	"2021-03-02"
"GENCC_000101-HGNC_897-OMIM_304800-HP_0001417-GENCC_100001"	"HGNC:897"	"AVPR2"	"MONDO:0010581"	"diabetes insipidus, nephrogenic, X-linked"	"OMIM:304800"	"Diabetes insipidus, nephrogenic, 1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:897"	"AVPR2"	"OMIM:304800"	"Diabetes insipidus, nephrogenic"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:33:07"	""	""	""	"PMID: 28106320"	"770"	"2021-03-02"
"GENCC_000101-HGNC_904-OMIM_608615-HP_0000006-GENCC_100001"	"HGNC:904"	"AXIN2"	"MONDO:0012075"	"oligodontia-cancer predisposition syndrome"	"OMIM:608615"	"Oligodontia-colorectal cancer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:904"	"AXIN2"	"OMIM:608615"	"Oligodontia-colorectal cancer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-04-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64066"	"2023-08-19"
"GENCC_000101-HGNC_28596-OMIM_615181-HP_0000007-GENCC_100003"	"HGNC:28596"	"B3GALNT2"	"MONDO:0014071"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"	"OMIM:615181"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28596"	"B3GALNT2"	"OMIM:615181"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:33:07"	""	""	""	"PMID: 28106320"	"805453"	"2021-03-02"
"GENCC_000101-HGNC_17978-OMIM_615349-HP_0000007-GENCC_100002"	"HGNC:17978"	"B3GALT6"	"MONDO:0014139"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17978"	"B3GALT6"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-21 13:33:07"	""	""	""	"PMID: 28106320"	"861436"	"2021-03-02"
"GENCC_000101-HGNC_923-OMIM_245600-HP_0000007-GENCC_100003"	"HGNC:923"	"B3GAT3"	"MONDO:0009511"	"Larsen-like syndrome, B3GAT3 type"	"OMIM:245600"	"Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:923"	"B3GAT3"	"OMIM:245600"	"Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-23 13:33:07"	""	""	""	"PMID: 28106320"	"61663"	"2021-03-02"
"GENCC_000101-HGNC_4117-OMIM_609195-HP_0000007-GENCC_100003"	"HGNC:4117"	"B4GALNT1"	"MONDO:0012213"	"hereditary spastic paraplegia 26"	"OMIM:609195"	"Spastic paraplegia 26, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4117"	"B4GALNT1"	"OMIM:609195"	"Spastic paraplegia 26, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-28 13:33:08"	""	""	""	"PMID: 28106320"	"6759"	"2021-03-02"
"GENCC_000101-HGNC_924-OMIM_607091-HP_0000007-GENCC_100003"	"HGNC:924"	"B4GALT1"	"MONDO:0011772"	"B4GALT1-congenital disorder of glycosylation"	"OMIM:607091"	"Congenital disorder of glycosylation, type IId"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:924"	"B4GALT1"	"OMIM:607091"	"Congenital disorder of glycosylation, type IId"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-11 13:33:08"	""	""	""	"PMID: 28106320"	"6159"	"2021-03-02"
"GENCC_000101-HGNC_17397-OMIM_614008-HP_0000007-GENCC_100004"	"HGNC:17397"	"BANF1"	"MONDO:0013523"	"Nestor-Guillermo progeria syndrome"	"OMIM:614008"	"Nestor-Guillermo progeria syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17397"	"BANF1"	"OMIM:614008"	"Nestor-Guillermo progeria syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-21 13:33:08"	""	""	""	"PMID: 28106320"	"5587"	"2021-03-02"
"GENCC_000101-HGNC_959-OMIM_613065-HP_0000005-GENCC_100004"	"HGNC:959"	"BAX"	"MONDO:0013108"	"leukemia, acute lymphocytic, susceptibility to, 1"	"OMIM:613065"	"Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:959"	"BAX"	"OMIM:613065"	"T-cell acute lymphoblastic leukemia, somatic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-19 13:33:09"	""	""	""	"PMID: 28106320"	"758"	"2021-03-02"
"GENCC_000101-HGNC_966-OMIM_209900-HP_0000007-GENCC_100001"	"HGNC:966"	"BBS1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"OMIM:209900"	"Bardet-Biedl syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:966"	"BBS1"	"OMIM:209900"	"Bardet-Biedl syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:33:09"	""	""	""	"PMID: 28106320"	"756"	"2021-03-02"
"GENCC_000101-HGNC_967-OMIM_615981-HP_0000007-GENCC_100001"	"HGNC:967"	"BBS2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"OMIM:615981"	"Bardet-Biedl syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:967"	"BBS2"	"OMIM:615981"	"Bardet-Biedl syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:33:09"	""	""	""	"PMID: 28106320"	"759"	"2021-03-02"
"GENCC_000101-HGNC_977-OMIM_618850-HP_0000007-GENCC_100004"	"HGNC:977"	"BCAT2"	"MONDO:0100058"	"hypervalinemia and hyperleucine-isoleucinemia"	"OMIM:618850"	"Hypervalinemia and hyperleucine-isoleucinemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:977"	"BCAT2"	"OMIM:618850"	"Hypervalinemia or hyperleucine-isoleucinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:33:09"	""	""	""	"PMID: 28106320"	"754"	"2021-03-02"
"GENCC_000101-HGNC_986-OMIM_248600-HP_0000007-GENCC_100001"	"HGNC:986"	"BCKDHA"	"MONDO:0009563"	"maple syrup urine disease"	"OMIM:248600"	"Maple syrup urine disease, type Ia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:986"	"BCKDHA"	"OMIM:248600"	"Maple syrup urine disease, type Ia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-23 13:33:09"	""	""	""	"PMID: 28106320"	"739"	"2021-03-02"
"GENCC_000101-HGNC_16902-OMIM_614923-HP_0000007-GENCC_100002"	"HGNC:16902"	"BCKDK"	"MONDO:0013970"	"branched-chain keto acid dehydrogenase kinase deficiency"	"OMIM:614923"	"Branched-chain keto acid dehydrogenase kinase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16902"	"BCKDK"	"OMIM:614923"	"Branched-chain ketoacid dehydrogenase kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:33:09"	""	""	""	"PMID: 28106320"	"82637"	"2021-03-02"
"GENCC_000101-HGNC_13222-OMIM_617237-HP_0000006-GENCC_100004"	"HGNC:13222"	"BCL11B"	"MONDO:0014981"	"immunodeficiency 49"	"OMIM:617237"	"Immunodeficiency 49, severe combined"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13222"	"BCL11B"	"OMIM:617237"	"Immunodeficiency 49"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-17 13:33:10"	""	""	""	"PMID: 28106320"	"10383"	"2021-03-02"
"GENCC_000101-HGNC_13222-OMIM_618092-HP_0000006-GENCC_100003"	"HGNC:13222"	"BCL11B"	"MONDO:0060763"	"intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"	"OMIM:618092"	"Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13222"	"BCL11B"	"OMIM:618092"	"Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-17 13:33:10"	""	""	""	"PMID: 28106320"	"10383"	"2021-03-02"
"GENCC_000101-HGNC_25657-OMIM_301029-HP_0001417-GENCC_100004"	"HGNC:25657"	"BCORL1"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"OMIM:301029"	"Shukla-Vernon syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25657"	"BCORL1"	"OMIM:301029"	"Shukla-Vernon syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"3062"	"2023-08-19"
"GENCC_000101-HGNC_12703-OMIM_153700-HP_0000006-GENCC_100001"	"HGNC:12703"	"BEST1"	"MONDO:0007931"	"vitelliform macular dystrophy 2"	"OMIM:153700"	"Macular dystrophy, vitelliform, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12703"	"BEST1"	"OMIM:153700"	"Macular dystrophy, vitelliform, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-05-24 00:00:00"	""	""	""	"PMID: 28106320"	"4093"	"2021-03-02"
"GENCC_000101-HGNC_12703-OMIM_193220-HP_0000006-GENCC_100003"	"HGNC:12703"	"BEST1"	"MONDO:0008662"	"autosomal dominant vitreoretinochoroidopathy"	"OMIM:193220"	"Vitreoretinochoroidopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12703"	"BEST1"	"OMIM:193220"	"Vitreoretinochoroidopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-08 13:33:11"	""	""	""	"PMID: 28106320"	"4093"	"2021-03-02"
"GENCC_000101-HGNC_12703-OMIM_611809-HP_0000007-GENCC_100001"	"HGNC:12703"	"BEST1"	"MONDO:0012733"	"autosomal recessive bestrophinopathy"	"OMIM:611809"	"Bestrophinopathy, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12703"	"BEST1"	"OMIM:611809"	"Bestrophinopathy, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-01-29 13:33:12"	""	""	""	"PMID: 28106320"	"4093"	"2021-03-02"
"GENCC_000101-HGNC_1040-OMIM_611391-HP_0032113-GENCC_100003"	"HGNC:1040"	"BFSP1"	"MONDO:0012665"	"cataract 33"	"OMIM:611391"	"Cataract 33, multiple types"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1040"	"BFSP1"	"OMIM:611391"	"Cataract 33, multiple types"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-12-12 13:33:12"	""	""	""	"PMID: 28106320"	"198"	"2021-03-02"
"GENCC_000101-HGNC_1044-OMIM_300106-HP_0001417-GENCC_100004"	"HGNC:1044"	"BGN"	"MONDO:0010248"	"X-linked spondyloepimetaphyseal dysplasia"	"OMIM:300106"	"Spondyloepimetaphyseal dysplasia, X-linked"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1044"	"BGN"	"OMIM:300106"	"Spondyloepimetaphyseal dysplasia, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:33:13"	""	""	""	"PMID: 28106320"	"199"	"2021-03-02"
"GENCC_000101-HGNC_1044-OMIM_300989-HP_0001417-GENCC_100003"	"HGNC:1044"	"BGN"	"MONDO:0010515"	"Meester-Loeys syndrome"	"OMIM:300989"	"Meester-Loeys syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1044"	"BGN"	"OMIM:300989"	"Meester-Loeys syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:13"	""	""	""	"PMID: 28106320"	"199"	"2021-03-02"
"GENCC_000101-HGNC_35126-OMIM_609432-HP_0000007-GENCC_100002"	"HGNC:35126"	"BHLHA9"	"MONDO:0012271"	"mesoaxial synostotic syndactyly with phalangeal reduction"	"OMIM:609432"	"Syndactyly, mesoaxial synostotic, with phalangeal reduction"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:35126"	"BHLHA9"	"OMIM:609432"	"Syndactyly, mesoaxial synostotic, with phalangeal reduction"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-11 00:00:00"	""	""	""	"PMID: 28106320"	"464574"	"2021-03-02"
"GENCC_000101-HGNC_19351-OMIM_601331-HP_0000006-GENCC_100004"	"HGNC:19351"	"BICC1"	"MONDO:0011037"	"renal dysplasia, cystic, susceptibility to"	"OMIM:601331"	"{Renal dysplasia, cystic, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19351"	"BICC1"	"OMIM:601331"	"Renal dysplasia, cystic, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:33:14"	""	""	""	"PMID: 28106320"	"52880"	"2021-03-02"
"GENCC_000101-HGNC_17208-OMIM_615290-HP_0000006-GENCC_100002"	"HGNC:17208"	"BICD2"	"MONDO:0014121"	"autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures"	"OMIM:615290"	"Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17208"	"BICD2"	"OMIM:615290"	"Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-06 13:33:14"	""	""	""	"PMID: 28106320"	"69633"	"2021-03-02"
"GENCC_000101-HGNC_14211-OMIM_613502-HP_0000007-GENCC_100003"	"HGNC:14211"	"BLNK"	"MONDO:0013289"	"agammaglobulinemia 4, autosomal recessive"	"OMIM:613502"	"?Agammaglobulinemia 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14211"	"BLNK"	"OMIM:613502"	"Agammaglobulinemia 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-29 13:33:15"	""	""	""	"PMID: 28106320"	"63412"	"2021-03-02"
"GENCC_000101-HGNC_1067-OMIM_614856-HP_0000007-GENCC_100003"	"HGNC:1067"	"BMP1"	"MONDO:0013924"	"osteogenesis imperfecta type 13"	"OMIM:614856"	"Osteogenesis imperfecta, type XIII"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1067"	"BMP1"	"OMIM:614856"	"Osteogenesis imperfecta, type XIII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:15"	""	""	""	"PMID: 28106320"	"103"	"2021-03-02"
"GENCC_000101-HGNC_1068-OMIM_300510-HP_0000006-GENCC_100003"	"HGNC:1068"	"BMP15"	"MONDO:0010349"	"ovarian dysgenesis 2"	"OMIM:300510"	"Ovarian dysgenesis 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1068"	"BMP15"	"OMIM:300510"	"Premature ovarian failure 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-09 13:33:16"	""	""	""	"PMID: 28106320"	"3682"	"2021-03-02"
"GENCC_000101-HGNC_1071-OMIM_607932-HP_0000006-GENCC_100003"	"HGNC:1071"	"BMP4"	"MONDO:0011936"	"microphthalmia with brain and digit anomalies"	"OMIM:607932"	"Microphthalmia, syndromic 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1071"	"BMP4"	"OMIM:607932"	"Microphthalmia, syndromic 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-02 13:33:16"	""	""	""	"PMID: 28106320"	"176"	"2021-03-02"
"GENCC_000101-HGNC_1076-OMIM_174900-HP_0000006-GENCC_100001"	"HGNC:1076"	"BMPR1A"	"MONDO:0008276"	"generalized juvenile polyposis/juvenile polyposis coli"	"OMIM:174900"	"Polyposis, juvenile intestinal"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1076"	"BMPR1A"	"OMIM:174900"	"Juvenile polyposis syndrome, infantile form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-09-30 00:00:00"	""	""	""	"PMID: 28106320"	"174"	"2021-03-02"
"GENCC_000101-HGNC_30988-OMIM_618612-HP_0000006-GENCC_100003"	"HGNC:30988"	"BNC2"	"MONDO:0032833"	"lower urinary tract obstruction, congenital"	"OMIM:618612"	"Lower urinary tract obstruction, congenital"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30988"	"BNC2"	"OMIM:618612"	"Lower urinary tract obstruction, congenital"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-14 13:33:17"	""	""	""	"PMID: 28106320"	"70431"	"2021-03-02"
"GENCC_000101-HGNC_1097-OMIM_613706-HP_0000006-GENCC_100003"	"HGNC:1097"	"BRAF"	"MONDO:0013379"	"Noonan syndrome 7"	"OMIM:613706"	"Noonan syndrome 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1097"	"BRAF"	"OMIM:613706"	"Noonan syndrome 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-10 13:33:17"	""	""	""	"PMID: 28106320"	"149"	"2021-03-02"
"GENCC_000101-HGNC_1097-OMIM_613707-HP_0000006-GENCC_100004"	"HGNC:1097"	"BRAF"	"MONDO:0013380"	"LEOPARD syndrome 3"	"OMIM:613707"	"LEOPARD syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1097"	"BRAF"	"OMIM:613707"	"LEOPARD syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:33:17"	""	""	""	"PMID: 28106320"	"149"	"2021-03-02"
"GENCC_000101-HGNC_1097-OMIM_115150-HP_0000006-GENCC_100001"	"HGNC:1097"	"BRAF"	"MONDO:0007265"	"cardiofaciocutaneous syndrome 1"	"OMIM:115150"	"Cardiofaciocutaneous syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1097"	"BRAF"	"OMIM:115150"	"Cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-10 13:33:17"	""	""	""	"PMID: 28106320"	"149"	"2021-03-02"
"GENCC_000101-HGNC_1100-OMIM_604370-HP_0000006-GENCC_100001"	"HGNC:1100"	"BRCA1"	"MONDO:0011450"	"breast-ovarian cancer, familial, susceptibility to, 1"	"OMIM:604370"	"{Breast-ovarian cancer, familial, 1}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1100"	"BRCA1"	"OMIM:604370"	"Breast-ovarian cancer, familial, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:33:17"	""	""	""	"PMID: 28106320"	"146"	"2021-03-02"
"GENCC_000101-HGNC_1100-OMIM_617883-HP_0000007-GENCC_100003"	"HGNC:1100"	"BRCA1"	"MONDO:0054748"	"Fanconi anemia, complementation group S"	"OMIM:617883"	"Fanconi anemia, complementation group S"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1100"	"BRCA1"	"OMIM:617883"	"Fanconi anemia, complementation group S"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-03-07 13:33:18"	""	""	""	"PMID: 28106320"	"146"	"2021-03-02"
"GENCC_000101-HGNC_1101-OMIM_612555-HP_0000006-GENCC_100001"	"HGNC:1101"	"BRCA2"	"MONDO:0012933"	"breast-ovarian cancer, familial, susceptibility to, 2"	"OMIM:612555"	"{Breast-ovarian cancer, familial, 2}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1101"	"BRCA2"	"OMIM:612555"	"Breast-ovarian cancer, familial, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:33:18"	""	""	""	"PMID: 28106320"	"147"	"2021-03-02"
"GENCC_000101-HGNC_1101-OMIM_605724-HP_0000007-GENCC_100001"	"HGNC:1101"	"BRCA2"	"MONDO:0011584"	"Fanconi anemia complementation group D1"	"OMIM:605724"	"Fanconi anemia, complementation group D1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1101"	"BRCA2"	"OMIM:605724"	"Fanconi anemia, complementation group D1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-08-19 00:00:00"	""	""	""	"PMID: 28106320"	"147"	"2021-03-02"
"GENCC_000101-HGNC_11551-OMIM_616202-HP_0000007-GENCC_100003"	"HGNC:11551"	"BRF1"	"MONDO:0014529"	"cerebellar-facial-dental syndrome"	"OMIM:616202"	"Cerebellofaciodental syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11551"	"BRF1"	"OMIM:616202"	"Cerebellofaciodental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-02 13:33:18"	""	""	""	"PMID: 28106320"	"6346"	"2021-03-02"
"GENCC_000101-HGNC_20473-OMIM_609054-HP_0000007-GENCC_100002"	"HGNC:20473"	"BRIP1"	"MONDO:0012187"	"Fanconi anemia complementation group J"	"OMIM:609054"	"Fanconi anemia, complementation group J"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20473"	"BRIP1"	"OMIM:609054"	"Fanconi anemia, complementation group J"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-12-08 00:00:00"	""	""	""	"PMID: 28106320"	"59332"	"2021-03-02"
"GENCC_000101-HGNC_20473-OMIM_114480-HP_0000006-GENCC_100004"	"HGNC:20473"	"BRIP1"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20473"	"BRIP1"	"OMIM:114480"	"Breast cancer, early-onset, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13487"	"2023-08-19"
"GENCC_000101-HGNC_17342-OMIM_300659-HP_0000006-GENCC_100003"	"HGNC:17342"	"BRWD3"	"MONDO:0010393"	"intellectual disability, X-linked 93"	"OMIM:300659"	"Intellectual developmental disorder, X-linked 93"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17342"	"BRWD3"	"OMIM:300659"	"Mental retardation, X-linked 93"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-23 13:33:19"	""	""	""	"PMID: 28106320"	"670217"	"2021-03-02"
"GENCC_000101-HGNC_1152-OMIM_616812-HP_0000007-GENCC_100003"	"HGNC:1152"	"POPDC1"	"MONDO:0014782"	"autosomal recessive limb-girdle muscular dystrophy type 2X"	"OMIM:616812"	"Muscular dystrophy, limb-girdle, autosomal recessive 25"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1152"	"BVES"	"OMIM:616812"	"Muscular dystrophy, limb-girdle, autosomal recessive 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-02 13:33:20"	""	""	""	"PMID: 28106320"	"88803"	"2021-03-02"
"GENCC_000101-HGNC_29521-OMIM_218340-HP_0000007-GENCC_100003"	"HGNC:29521"	"C12orf57"	"MONDO:0009033"	"temtamy syndrome"	"OMIM:218340"	"Temtamy syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29521"	"C12orf57"	"OMIM:218340"	"Temtamy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-21 13:33:21"	""	""	""	"PMID: 28106320"	"889601"	"2021-03-02"
"GENCC_000101-HGNC_25443-OMIM_614298-HP_0000007-GENCC_100002"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"OMIM:614298"	"Neurodegeneration with brain iron accumulation 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25443"	"C19orf12"	"OMIM:614298"	"Neurodegeneration with brain iron accumulation 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-17 13:33:21"	""	""	""	"PMID: 28106320"	"59191"	"2021-03-02"
"GENCC_000101-HGNC_1247-OMIM_613783-HP_0000007-GENCC_100002"	"HGNC:1247"	"C1S"	"MONDO:0013419"	"complement component C1s deficiency"	"OMIM:613783"	"C1s deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1247"	"C1S"	"OMIM:613783"	"C1s deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-05-22 00:00:00"	""	""	""	"PMID: 28106320"	"481"	"2021-03-02"
"GENCC_000101-HGNC_1247-OMIM_617174-HP_0000006-GENCC_100004"	"HGNC:1247"	"C1S"	"MONDO:0014954"	"Ehlers-Danlos syndrome, periodontal type 2"	"OMIM:617174"	"Ehlers-Danlos syndrome, periodontal type, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1247"	"C1S"	"OMIM:617174"	"Ehlers-Danlos syndrome, periodontal type, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:33:22"	""	""	""	"PMID: 28106320"	"481"	"2021-03-02"
"GENCC_000101-HGNC_27232-OMIM_614500-HP_0000007-GENCC_100003"	"HGNC:27232"	"CFAP418"	"MONDO:0013786"	"cone-rod dystrophy 16"	"OMIM:614500"	"Cone-rod dystrophy 16"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27232"	"C8orf37"	"OMIM:614500"	"Retinitis pigmentosa 64"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:23"	""	""	""	"PMID: 28106320"	"874174"	"2021-03-02"
"GENCC_000101-HGNC_27232-OMIM_617406-HP_0000007-GENCC_100004"	"HGNC:27232"	"CFAP418"	"MONDO:0044308"	"bardet-biedl syndrome 21"	"OMIM:617406"	"Bardet-Biedl syndrome 21"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27232"	"C8orf37"	"OMIM:617406"	"Bardet-Biedl syndrome 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-23 13:33:23"	""	""	""	"PMID: 28106320"	"874174"	"2021-03-02"
"GENCC_000101-HGNC_28337-OMIM_105550-HP_0000006-GENCC_100003"	"HGNC:28337"	"C9orf72"	"MONDO:0007105"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"OMIM:105550"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28337"	"C9orf72"	"OMIM:105550"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-09-16 00:00:00"	""	""	""	"PMID: 28106320"	"629665"	"2021-03-02"
"GENCC_000101-HGNC_1377-OMIM_615751-HP_0000007-GENCC_100003"	"HGNC:1377"	"CA5A"	"MONDO:0014332"	"hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	"OMIM:615751"	"Hyperammonemia due to carbonic anhydrase VA deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1377"	"CA5A"	"OMIM:615751"	"Hyperammonemia due to carbonic anhydrase VA deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:24"	""	""	""	"PMID: 28106320"	"419"	"2021-03-02"
"GENCC_000101-HGNC_1388-OMIM_183086-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0008457"	"spinocerebellar ataxia type 6"	"OMIM:183086"	"Spinocerebellar ataxia 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1388"	"CACNA1A"	"OMIM:183086"	"Spinocerebellar ataxia 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-06-26 13:33:24"	""	""	""	"PMID: 28106320"	"449"	"2021-03-02"
"GENCC_000101-HGNC_1388-OMIM_108500-HP_0000006-GENCC_100001"	"HGNC:1388"	"CACNA1A"	"MONDO:0007163"	"episodic ataxia type 2"	"OMIM:108500"	"Episodic ataxia, type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1388"	"CACNA1A"	"OMIM:108500"	"Episodic ataxia, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-26 13:33:24"	""	""	""	"PMID: 28106320"	"449"	"2021-03-02"
"GENCC_000101-HGNC_1388-OMIM_617106-HP_0000006-GENCC_100003"	"HGNC:1388"	"CACNA1A"	"MONDO:0014917"	"developmental and epileptic encephalopathy, 42"	"OMIM:617106"	"Developmental and epileptic encephalopathy 42"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1388"	"CACNA1A"	"OMIM:617106"	"Developemental and epileptic encephalopahty 42"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-26 13:33:25"	""	""	""	"PMID: 28106320"	"449"	"2021-03-02"
"GENCC_000101-HGNC_1388-OMIM_141500-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0020756"	"migraine, familial hemiplegic, 1"	"OMIM:141500"	"Migraine, familial hemiplegic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1388"	"CACNA1A"	"OMIM:141500"	"Migraine, familial hemiplegic, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-08-22 00:00:00"	""	""	""	"PMID: 28106320"	"449"	"2021-03-02"
"GENCC_000101-HGNC_1389-OMIM_618497-HP_0000007-GENCC_100004"	"HGNC:1389"	"CACNA1B"	"MONDO:0032784"	"neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"OMIM:618497"	"Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1389"	"CACNA1B"	"OMIM:618497"	"Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11585"	"2023-08-19"
"GENCC_000101-HGNC_1390-OMIM_611875-HP_0000006-GENCC_100005"	"HGNC:1390"	"CACNA1C"	"MONDO:0012742"	"Brugada syndrome 3"	"OMIM:611875"	"Brugada syndrome 3"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1390"	"CACNA1C"	"OMIM:611875"	"Brugada syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2020-04-06 13:33:25"	""	""	""	"PMID: 28106320"	"447"	"2021-03-02"
"GENCC_000101-HGNC_1390-OMIM_618447-HP_0000006-GENCC_100003"	"HGNC:1390"	"CACNA1C"	"MONDO:0032756"	"long qt syndrome 8"	"OMIM:618447"	"Long QT syndrome 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1390"	"CACNA1C"	"OMIM:618447"	"Long QT syndrome 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-09-17 00:00:00"	""	""	""	"PMID: 28106320"	"447"	"2021-03-02"
"GENCC_000101-HGNC_1390-OMIM_601005-HP_0000006-GENCC_100002"	"HGNC:1390"	"CACNA1C"	"MONDO:0010979"	"Timothy syndrome"	"OMIM:601005"	"Timothy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1390"	"CACNA1C"	"OMIM:601005"	"Timothy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2015-09-16 00:00:00"	""	""	""	"PMID: 28106320"	"447"	"2021-03-02"
"GENCC_000101-HGNC_1394-OMIM_616795-HP_0000006-GENCC_100002"	"HGNC:1394"	"CACNA1G"	"MONDO:0014776"	"spinocerebellar ataxia type 42"	"OMIM:616795"	"Spinocerebellar ataxia 42"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1394"	"CACNA1G"	"OMIM:616795"	"Spinocerebellar ataxia 42"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-06-22 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74540"	"2024-01-02"
"GENCC_000101-HGNC_1402-OMIM_611876-HP_0000006-GENCC_100005"	"HGNC:1402"	"CACNB2"	"MONDO:0012743"	"Brugada syndrome 4"	"OMIM:611876"	"Brugada syndrome 4"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1402"	"CACNB2"	"OMIM:611876"	"Brugada syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2020-04-28 13:33:26"	""	""	""	"PMID: 28106320"	"459"	"2021-03-02"
"GENCC_000101-HGNC_1406-OMIM_614256-HP_0000006-GENCC_100004"	"HGNC:1406"	"CACNG2"	"MONDO:0013657"	"intellectual disability, autosomal dominant 10"	"OMIM:614256"	"?Intellectual developmental disorder, autosomal dominant 10"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1406"	"CACNG2"	"OMIM:614256"	"Mental retardation, autosomal dominant 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:33:26"	""	""	""	"PMID: 28106320"	"82913"	"2021-03-02"
"GENCC_000101-HGNC_1442-OMIM_616247-HP_0000006-GENCC_100002"	"HGNC:1442"	"CALM1"	"MONDO:0014548"	"long QT syndrome 14"	"OMIM:616247"	"Long QT syndrome 14"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1442"	"CALM1"	"OMIM:616247"	"Long QT syndrome 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-29 13:33:27"	""	""	""	"PMID: 28106320"	"528"	"2021-03-02"
"GENCC_000101-HGNC_1463-OMIM_618522-HP_0000006-GENCC_100004"	"HGNC:1463"	"CAMK2G"	"MONDO:0032795"	"intellectual developmental disorder 59"	"OMIM:618522"	"Intellectual developmental disorder, autosomal dominant 59"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1463"	"CAMK2G"	"OMIM:618522"	"Intellectual developmental disorder, autosomal dominant 59"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-08 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"3356"	"2025-01-17"
"GENCC_000101-HGNC_1476-OMIM_616907-HP_0000007-GENCC_100002"	"HGNC:1476"	"CAPN1"	"MONDO:0014827"	"autosomal recessive spastic paraplegia type 76"	"OMIM:616907"	"Spastic paraplegia 76, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1476"	"CAPN1"	"OMIM:616907"	"Spastic paraplegia 76, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-22 13:33:28"	""	""	""	"PMID: 28106320"	"569"	"2021-03-02"
"GENCC_000101-HGNC_1482-OMIM_193235-HP_0000006-GENCC_100003"	"HGNC:1482"	"CAPN5"	"MONDO:0008664"	"autosomal dominant neovascular inflammatory vitreoretinopathy"	"OMIM:193235"	"Vitreoretinopathy, neovascular inflammatory"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1482"	"CAPN5"	"OMIM:193235"	"Vitreoretinopathy, neovascular inflammatory"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-11 13:33:28"	""	""	""	"PMID: 28106320"	"461"	"2021-03-02"
"GENCC_000101-HGNC_16391-OMIM_212050-HP_0000007-GENCC_100002"	"HGNC:16391"	"CARD9"	"MONDO:0008905"	"predisposition to invasive fungal disease due to CARD9 deficiency"	"OMIM:212050"	"Immunodeficiency 103, susceptibility to fungal infection"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16391"	"CARD9"	"OMIM:212050"	"Candidiasis, familial, 2, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-23 13:33:29"	""	""	""	"PMID: 28106320"	"10842"	"2021-03-02"
"GENCC_000101-HGNC_27089-OMIM_618131-HP_0000007-GENCC_100003"	"HGNC:27089"	"CARMIL2"	"MONDO:0029134"	"severe combined immunodeficiency due to CARMIL2 deficiency"	"OMIM:618131"	"Immunodeficiency 58"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27089"	"CARMIL2"	"OMIM:618131"	"Immunodeficiency 58"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-05 13:33:29"	""	""	""	"PMID: 28106320"	"801621"	"2021-03-02"
"GENCC_000101-HGNC_1497-OMIM_300749-HP_0001417-GENCC_100001"	"HGNC:1497"	"CASK"	"MONDO:0010417"	"syndromic X-linked intellectual disability Najm type"	"OMIM:300749"	"Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1497"	"CASK"	"OMIM:300749"	"Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-09-01 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64913"	"2024-01-02"
"GENCC_000101-HGNC_1497-OMIM_300422-HP_0001417-GENCC_100001"	"HGNC:1497"	"CASK"	"MONDO:0010318"	"FG syndrome 4"	"OMIM:300422"	"FG syndrome 4"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1497"	"CASK"	"OMIM:300422"	"Mental retardation, with or without nystagmus"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-10-15 00:00:00"	""	""	""	"PMID: 28106320"	"5749"	"2021-03-02"
"GENCC_000101-HGNC_1527-OMIM_612526-HP_0000006-GENCC_100003"	"HGNC:1527"	"CAV1"	"MONDO:0012923"	"congenital generalized lipodystrophy type 3"	"OMIM:612526"	"Lipodystrophy, congenital generalized, type 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1527"	"CAV1"	"OMIM:612526"	"Lipodystrophy, congenital generalized, type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:30"	""	""	""	"PMID: 28106320"	"574"	"2021-03-02"
"GENCC_000101-HGNC_1527-OMIM_615343-HP_0000006-GENCC_100004"	"HGNC:1527"	"CAV1"	"MONDO:0014135"	"pulmonary hypertension, primary, 3"	"OMIM:615343"	"Pulmonary hypertension, primary, 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1527"	"CAV1"	"OMIM:615343"	"Pulmonary hypertension, primary, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2016-04-17 00:00:00"	""	""	""	"PMID: 28106320"	"574"	"2021-03-02"
"GENCC_000101-HGNC_1552-OMIM_613080-HP_0032113-GENCC_100004"	"HGNC:1552"	"CBX2"	"MONDO:0013120"	"46,XY sex reversal 5"	"OMIM:613080"	"?46XY sex reversal 5"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1552"	"CBX2"	"OMIM:613080"	"46XY sex reversal 5"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-17 13:33:31"	""	""	""	"PMID: 28106320"	"50499"	"2021-03-02"
"GENCC_000101-HGNC_30237-OMIM_608443-HP_0000007-GENCC_100003"	"HGNC:30237"	"CC2D1A"	"MONDO:0012037"	"intellectual disability, autosomal recessive 3"	"OMIM:608443"	"Intellectual developmental disorder, autosomal recessive 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30237"	"CC2D1A"	"OMIM:608443"	"Mental retardation, autosomal recessive 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:33:31"	""	""	""	"PMID: 28106320"	"70516"	"2021-03-02"
"GENCC_000101-HGNC_32700-OMIM_614679-HP_0000007-GENCC_100003"	"HGNC:32700"	"DNAAF19"	"MONDO:0013854"	"primary ciliary dyskinesia 17"	"OMIM:614679"	"Ciliary dyskinesia, primary, 17"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32700"	"CCDC103"	"OMIM:614679"	"Ciliary dyskinesia, primary, 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:31"	""	""	""	"PMID: 28106320"	"955953"	"2021-03-02"
"GENCC_000101-HGNC_28033-OMIM_616816-HP_0000007-GENCC_100004"	"HGNC:28033"	"CCDC174"	"MONDO:0014784"	"severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"	"OMIM:616816"	"Hypotonia, infantile, with psychomotor retardation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28033"	"CCDC174"	"OMIM:616816"	"Hypotonia, infantile, with psychomotor retardation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:33:32"	""	""	""	"PMID: 28106320"	"78600"	"2021-03-02"
"GENCC_000101-HGNC_28909-OMIM_300963-HP_0001417-GENCC_100004"	"HGNC:28909"	"CCDC22"	"MONDO:0010499"	"Ritscher-Schinzel syndrome 2"	"OMIM:300963"	"Ritscher-Schinzel syndrome 2"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28909"	"CCDC22"	"OMIM:300963"	"Ritscher-Schinzel syndrome 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-26 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71155"	"2025-01-17"
"GENCC_000101-HGNC_26090-OMIM_613808-HP_0000007-GENCC_100001"	"HGNC:26090"	"CCDC40"	"MONDO:0013435"	"primary ciliary dyskinesia 15"	"OMIM:613808"	"Ciliary dyskinesia, primary, 15"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26090"	"CCDC40"	"OMIM:613808"	"Ciliary dyskinesia, primary, 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-29 13:33:33"	""	""	""	"PMID: 28106320"	"77291"	"2021-03-02"
"GENCC_000101-HGNC_19967-OMIM_236600-HP_0000007-GENCC_100003"	"HGNC:19967"	"CCDC88C"	"MONDO:0009360"	"hydrocephalus, nonsyndromic, autosomal recessive 1"	"OMIM:236600"	"Hydrocephalus, congenital, 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19967"	"CCDC88C"	"OMIM:236600"	"Hydrocephalus, congenital, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-22 13:33:33"	""	""	""	"PMID: 28106320"	"002839"	"2021-03-02"
"GENCC_000101-HGNC_19967-OMIM_616053-HP_0000006-GENCC_100004"	"HGNC:19967"	"CCDC88C"	"MONDO:0014475"	"spinocerebellar ataxia type 40"	"OMIM:616053"	"?Spinocerebellar ataxia 40"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19967"	"CCDC88C"	"OMIM:616053"	"Spinocerebellar ataxia 40"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-11-04 13:33:33"	""	""	""	"PMID: 28106320"	"002839"	"2021-03-02"
"GENCC_000101-HGNC_1583-OMIM_615938-HP_0000006-GENCC_100001"	"HGNC:1583"	"CCND2"	"MONDO:0014408"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	"OMIM:615938"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1583"	"CCND2"	"OMIM:615938"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-27 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78519"	"2025-01-17"
"GENCC_000101-HGNC_1596-OMIM_618147-HP_0000006-GENCC_100004"	"HGNC:1596"	"CCNK"	"MONDO:0029143"	"intellectual developmental disorder with hypertelorism and distinctive facies"	"OMIM:618147"	"?Intellectual developmental disorder with hypertelorism and distinctive facies"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1596"	"CCNK"	"OMIM:618147"	"Intellectual developmental disorder with hypertelorism and distinctive facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-23 13:33:34"	""	""	""	"PMID: 28106320"	"5586"	"2021-03-02"
"GENCC_000101-HGNC_11922-OMIM_615122-HP_0000007-GENCC_100003"	"HGNC:11922"	"CD27"	"MONDO:0014054"	"lymphoproliferative syndrome 2"	"OMIM:615122"	"Lymphoproliferative syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11922"	"CD27"	"OMIM:615122"	"Lymphoproliferative syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-25 13:33:34"	""	""	""	"PMID: 28106320"	"393"	"2021-03-02"
"GENCC_000101-HGNC_16692-OMIM_613646-HP_0000007-GENCC_100004"	"HGNC:16692"	"CD320"	"MONDO:0013341"	"methylmalonic acidemia due to transcobalamin receptor defect"	"OMIM:613646"	"Methylmalonic aciduria, transient, due to transcobalamin receptor defect"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16692"	"CD320"	"OMIM:613646"	"Methylmalonic aciduria, transient, due to transcobalamin receptor defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61737"	"2023-08-19"
"GENCC_000101-HGNC_11935-OMIM_308230-HP_0001417-GENCC_100001"	"HGNC:11935"	"CD40LG"	"MONDO:0010626"	"hyper-IgM syndrome type 1"	"OMIM:308230"	"Immunodeficiency, X-linked, with hyper-IgM"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11935"	"CD40LG"	"OMIM:308230"	"Immunodeficiency, X-linked, with hyper-IgM"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-19 13:33:35"	""	""	""	"PMID: 28106320"	"373"	"2021-03-02"
"GENCC_000101-HGNC_1689-OMIM_612300-HP_0000007-GENCC_100003"	"HGNC:1689"	"CD59"	"MONDO:0012858"	"primary CD59 deficiency"	"OMIM:612300"	"Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1689"	"CD59"	"OMIM:612300"	"Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-03 13:33:36"	""	""	""	"PMID: 28106320"	"311"	"2021-03-02"
"GENCC_000101-HGNC_11937-OMIM_618261-HP_0000007-GENCC_100003"	"HGNC:11937"	"CD70"	"MONDO:0034054"	"severe combined immunodeficiency due to CD70 deficiency"	"OMIM:618261"	"Lymphoproliferative syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11937"	"CD70"	"OMIM:618261"	"Lymphoproliferative syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-21 13:33:36"	""	""	""	"PMID: 28106320"	"342"	"2021-03-02"
"GENCC_000101-HGNC_1713-OMIM_224120-HP_0000007-GENCC_100001"	"HGNC:1713"	"CDAN1"	"MONDO:0009135"	"anemia, congenital dyserythropoietic, type 1a"	"OMIM:224120"	"Dyserythropoietic anemia, congenital, type Ia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1713"	"CDAN1"	"OMIM:224120"	"Dyserythropoietic anemia, congenital, type Ia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-14 13:33:36"	""	""	""	"PMID: 28106320"	"801273"	"2021-03-02"
"GENCC_000101-HGNC_1748-OMIM_137215-HP_0000006-GENCC_100001"	"HGNC:1748"	"CDH1"	"MONDO:0007648"	"hereditary diffuse gastric adenocarcinoma"	"OMIM:137215"	"Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1748"	"CDH1"	"OMIM:137215"	"Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-22 13:33:36"	""	""	""	"PMID: 28106320"	"333"	"2021-03-02"
"GENCC_000101-HGNC_1748-OMIM_114480-HP_0000006-GENCC_100001"	"HGNC:1748"	"CDH1"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1748"	"CDH1"	"OMIM:114480"	"Breast cancer, lobular"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:33:37"	""	""	""	"PMID: 28106320"	"333"	"2021-03-02"
"GENCC_000101-HGNC_1748-OMIM_119580-HP_0000006-GENCC_100003"	"HGNC:1748"	"CDH1"	"MONDO:0054740"	"blepharocheilodontic syndrome 1"	"OMIM:119580"	"Blepharocheilodontic syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1748"	"CDH1"	"OMIM:119580"	"Blepharocheilodontic syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-22 13:33:37"	""	""	""	"PMID: 28106320"	"333"	"2021-03-02"
"GENCC_000101-HGNC_1750-OMIM_211380-HP_0000007-GENCC_100003"	"HGNC:1750"	"CDH11"	"MONDO:0008885"	"Elsahy-Waters syndrome"	"OMIM:211380"	"Elsahy-Waters syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1750"	"CDH11"	"OMIM:211380"	"Elsahy-Waters syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 13:33:38"	""	""	""	"PMID: 28106320"	"8223"	"2021-03-02"
"GENCC_000101-HGNC_1759-OMIM_618920-HP_0000006-GENCC_100003"	"HGNC:1759"	"CDH2"	"MONDO:0030062"	"arrhythmogenic right ventricular dysplasia, familial, 14"	"OMIM:618920"	"Arrhythmogenic right ventricular dysplasia 14"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1759"	"CDH2"	"OMIM:618920"	"Arrhythmogenic right ventricular dysplasia, familial, 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:33:38"	""	""	""	"PMID: 28106320"	"8222"	"2021-03-02"
"GENCC_000101-HGNC_1759-OMIM_618929-HP_0000006-GENCC_100003"	"HGNC:1759"	"CDH2"	"MONDO:0030065"	"agenesis of corpus callosum, cardiac, ocular, and genital syndrome"	"OMIM:618929"	"Agenesis of corpus callosum, cardiac, ocular, and genital syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1759"	"CDH2"	"OMIM:618929"	"Agenesis of corpus callosum, cardiac, ocular, and genital syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-10-03 13:33:39"	""	""	""	"PMID: 28106320"	"8222"	"2021-03-02"
"GENCC_000101-HGNC_19338-OMIM_618916-HP_0000006-GENCC_100004"	"HGNC:19338"	"CDK19"	"MONDO:0030059"	"developmental and epileptic encephalopathy, 87"	"OMIM:618916"	"Developmental and epileptic encephalopathy 87"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19338"	"CDK19"	"OMIM:618916"	"Developmental and epileptic encephalopathy 87"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-24 13:33:39"	""	""	""	"PMID: 28106320"	"69234"	"2021-03-02"
"GENCC_000101-HGNC_1773-OMIM_609048-HP_0000006-GENCC_100002"	"HGNC:1773"	"CDK4"	"MONDO:0012183"	"melanoma, cutaneous malignant, susceptibility to, 3"	"OMIM:609048"	"{Melanoma, cutaneous malignant, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1773"	"CDK4"	"OMIM:609048"	"Melanoma, cutaneous malignant, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-10-30 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92708"	"2024-01-02"
"GENCC_000101-HGNC_1774-OMIM_616342-HP_0000007-GENCC_100004"	"HGNC:1774"	"CDK5"	"MONDO:0014596"	"lissencephaly 7 with cerebellar hypoplasia"	"OMIM:616342"	"?Lissencephaly 7 with cerebellar hypoplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1774"	"CDK5"	"OMIM:616342"	"Lissencephaly 7 with cerebellar hypoplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"71835"	"2023-08-19"
"GENCC_000101-HGNC_18672-OMIM_604804-HP_0000007-GENCC_100003"	"HGNC:18672"	"CDK5RAP2"	"MONDO:0011488"	"microcephaly 3, primary, autosomal recessive"	"OMIM:604804"	"Microcephaly 3, primary, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18672"	"CDK5RAP2"	"OMIM:604804"	"Microcephaly 3, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 13:33:40"	""	""	""	"PMID: 28106320"	"77477"	"2021-03-02"
"GENCC_000101-HGNC_1779-OMIM_618748-HP_0000006-GENCC_100003"	"HGNC:1779"	"CDK8"	"MONDO:0032897"	"intellectual developmental disorder with hypotonia and behavioral abnormalities"	"OMIM:618748"	"Intellectual developmental disorder with hypotonia and behavioral abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1779"	"CDK8"	"OMIM:618748"	"Intellectual developmental disorder with hypotonia and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-03-29 13:33:41"	""	""	""	"PMID: 28106320"	"8260"	"2021-03-02"
"GENCC_000101-HGNC_11411-OMIM_300672-HP_0001417-GENCC_100001"	"HGNC:11411"	"CDKL5"	"MONDO:0010396"	"developmental and epileptic encephalopathy, 2"	"OMIM:300672"	"Developmental and epileptic encephalopathy 2"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11411"	"CDKL5"	"OMIM:300672"	"Developmental and epileptic encephalopathy 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-12 13:33:41"	""	""	""	"PMID: 28106320"	"1436"	"2021-03-02"
"GENCC_000101-HGNC_1786-OMIM_130650-HP_0000006-GENCC_100001"	"HGNC:1786"	"CDKN1C"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1786"	"CDKN1C"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-17 00:00:00"	""	""	""	"PMID: 28106320"	"8265"	"2021-03-02"
"GENCC_000101-HGNC_1786-OMIM_614732-HP_0000006-GENCC_100003"	"HGNC:1786"	"CDKN1C"	"MONDO:0013873"	"IMAGe syndrome"	"OMIM:614732"	"IMAGE syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1786"	"CDKN1C"	"OMIM:614732"	"IMAGE syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-10-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"8804"	"2023-08-19"
"GENCC_000101-HGNC_24866-OMIM_616781-HP_0000007-GENCC_100003"	"HGNC:24866"	"CEP104"	"MONDO:0014770"	"Joubert syndrome 25"	"OMIM:616781"	"Joubert syndrome 25"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24866"	"CEP104"	"OMIM:616781"	"Joubert syndrome 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-11-13 13:33:42"	""	""	""	"PMID: 28106320"	"3498"	"2021-03-02"
"GENCC_000101-HGNC_1859-OMIM_618358-HP_0000007-GENCC_100004"	"HGNC:1859"	"CEP250"	"MONDO:0020780"	"cone-rod dystrophy and hearing loss 2"	"OMIM:618358"	"Cone-rod dystrophy and hearing loss 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1859"	"CEP250"	"OMIM:618358"	"Cone-rod dystrophy and hearing loss 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-07 13:33:42"	""	""	""	"PMID: 28106320"	"88832"	"2021-03-02"
"GENCC_000101-HGNC_1161-OMIM_236500-HP_0000007-GENCC_100003"	"HGNC:1161"	"CEP55"	"MONDO:0009359"	"multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"	"OMIM:236500"	"Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1161"	"CEP55"	"OMIM:236500"	"Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-10 13:33:42"	""	""	""	"PMID: 28106320"	"77817"	"2021-03-02"
"GENCC_000101-HGNC_30794-OMIM_614114-HP_0000007-GENCC_100003"	"HGNC:30794"	"CEP57"	"MONDO:0013582"	"mosaic variegated aneuploidy syndrome 2"	"OMIM:614114"	"Mosaic variegated aneuploidy syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30794"	"CEP57"	"OMIM:614114"	"Mosaic variegated aneuploidy syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:43"	""	""	""	"PMID: 28106320"	"3426"	"2021-03-02"
"GENCC_000101-HGNC_25740-OMIM_617236-HP_0000007-GENCC_100002"	"HGNC:25740"	"CEP78"	"MONDO:0020778"	"cone-rod dystrophy and hearing loss 1"	"OMIM:617236"	"Cone-rod dystrophy and hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25740"	"CEP78"	"OMIM:617236"	"Cone-rod dystrophy and hearing loss"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-13 13:33:43"	""	""	""	"PMID: 28106320"	"50898"	"2021-03-02"
"GENCC_000101-HGNC_14253-OMIM_616230-HP_0000007-GENCC_100004"	"HGNC:14253"	"CERS1"	"MONDO:0014545"	"progressive myoclonic epilepsy type 8"	"OMIM:616230"	"Epilepsy, progressive myoclonic, 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14253"	"CERS1"	"OMIM:616230"	"Epilepsy, progressive myoclonic, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-18 13:33:43"	""	""	""	"PMID: 28106320"	"82487"	"2021-03-02"
"GENCC_000101-HGNC_26684-OMIM_617592-HP_0000007-GENCC_100004"	"HGNC:26684"	"CFAP43"	"MONDO:0054723"	"spermatogenic failure 19"	"OMIM:617592"	"Spermatogenic failure 19"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26684"	"CFAP43"	"OMIM:617592"	"Spermatogenic failure 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-04 13:33:44"	""	""	""	"PMID: 28106320"	"52684"	"2021-03-02"
"GENCC_000101-HGNC_26684-OMIM_236690-HP_0000006-GENCC_100004"	"HGNC:26684"	"CFAP43"	"MONDO:0009366"	"normal pressure hydrocephalus"	"OMIM:236690"	"Hydrocephalus, normal pressure, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26684"	"CFAP43"	"OMIM:236690"	"Hydrocephalus, normal pressure, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-15 13:33:44"	""	""	""	"PMID: 28106320"	"52684"	"2021-03-02"
"GENCC_000101-HGNC_25631-OMIM_617593-HP_0000007-GENCC_100003"	"HGNC:25631"	"CFAP44"	"MONDO:0054724"	"spermatogenic failure 20"	"OMIM:617593"	"Spermatogenic failure 20"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25631"	"CFAP44"	"OMIM:617593"	"Spermatogenic failure 20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:33:45"	""	""	""	"PMID: 28106320"	"77443"	"2021-03-02"
"GENCC_000101-HGNC_26107-OMIM_617959-HP_0000007-GENCC_100004"	"HGNC:26107"	"CFAP69"	"MONDO:0054728"	"spermatogenic failure 24"	"OMIM:617959"	"Spermatogenic failure 24"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26107"	"CFAP69"	"OMIM:617959"	"Spermatogenic failure 24"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-06 13:33:45"	""	""	""	"PMID: 28106320"	"43501"	"2021-03-02"
"GENCC_000101-HGNC_1875-OMIM_610687-HP_0000007-GENCC_100003"	"HGNC:1875"	"CFL2"	"MONDO:0012538"	"nemaline myopathy 7"	"OMIM:610687"	"Nemaline myopathy 7, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1875"	"CFL2"	"OMIM:610687"	"Nemaline myopathy 7, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-10 13:33:46"	""	""	""	"PMID: 28106320"	"8249"	"2021-03-02"
"GENCC_000101-HGNC_15559-OMIM_615911-HP_0000006-GENCC_100002"	"HGNC:15559"	"CHCHD10"	"MONDO:0014395"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"OMIM:615911"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15559"	"CHCHD10"	"OMIM:615911"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-05 13:33:46"	""	""	""	"PMID: 28106320"	"022381"	"2021-03-02"
"GENCC_000101-HGNC_1918-OMIM_618205-HP_0000006-GENCC_100002"	"HGNC:1918"	"CHD3"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"OMIM:618205"	"Snijders Blok-Campeau syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1918"	"CHD3"	"OMIM:618205"	"Snijders Blok-Campeau syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-04-30 13:33:47"	""	""	""	"PMID: 28106320"	"8824"	"2021-03-02"
"GENCC_000101-HGNC_1919-OMIM_617159-HP_0000006-GENCC_100002"	"HGNC:1919"	"CHD4"	"MONDO:0014946"	"Sifrim-Hitz-Weiss syndrome"	"OMIM:617159"	"Sifrim-Hitz-Weiss syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1919"	"CHD4"	"OMIM:617159"	"Sifrim-Hitz-Weiss syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-07 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18267"	"2025-01-17"
"GENCC_000101-HGNC_1961-OMIM_616314-HP_0000006-GENCC_100003"	"HGNC:1961"	"CHRNB1"	"MONDO:0014582"	"congenital myasthenic syndrome 2C"	"OMIM:616314"	"?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1961"	"CHRNB1"	"OMIM:616314"	"Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-29 13:33:48"	""	""	""	"PMID: 28106320"	"8802"	"2021-03-02"
"GENCC_000101-HGNC_17422-OMIM_618167-HP_0000007-GENCC_100004"	"HGNC:17422"	"CHST11"	"MONDO:0032574"	"osteochondrodysplasia, brachydactyly, and overlapping malformed digits"	"OMIM:618167"	"?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17422"	"CHST11"	"OMIM:618167"	"Osteochondrodysplasia, brachydactyly, and overlapping malformed digits"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-12 13:33:49"	""	""	""	"PMID: 28106320"	"72787"	"2021-03-02"
"GENCC_000101-HGNC_24464-OMIM_601776-HP_0000007-GENCC_100001"	"HGNC:24464"	"CHST14"	"MONDO:0020681"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"OMIM:601776"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24464"	"CHST14"	"OMIM:601776"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78307"	"2023-08-19"
"GENCC_000101-HGNC_1985-OMIM_617090-HP_0000007-GENCC_100003"	"HGNC:1985"	"CIT"	"MONDO:0014908"	"microcephaly 17, primary, autosomal recessive"	"OMIM:617090"	"Microcephaly 17, primary, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1985"	"CIT"	"OMIM:617090"	"Microcephaly 17, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:33:49"	""	""	""	"PMID: 28106320"	"88889"	"2021-03-02"
"GENCC_000101-HGNC_26877-OMIM_272440-HP_0000006-GENCC_100003"	"HGNC:26877"	"CKAP2L"	"MONDO:0010092"	"Filippi syndrome"	"OMIM:272440"	"Filippi syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26877"	"CKAP2L"	"OMIM:272440"	"Filippi syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-28 13:33:50"	""	""	""	"PMID: 28106320"	"872015"	"2021-03-02"
"GENCC_000101-HGNC_2023-OMIM_300009-HP_0001417-GENCC_100001"	"HGNC:2023"	"CLCN5"	"MONDO:0010225"	"Dent disease type 1"	"OMIM:300009"	"Dent disease 1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2023"	"CLCN5"	"OMIM:300009"	"Dent disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-25 13:33:50"	""	""	""	"PMID: 28106320"	"8850"	"2021-03-02"
"GENCC_000101-HGNC_2025-OMIM_618541-HP_0000006-GENCC_100004"	"HGNC:2025"	"CLCN7"	"MONDO:0032805"	"hypopigmentation, organomegaly, and delayed myelination and development"	"OMIM:618541"	"Hypopigmentation, organomegaly, and delayed myelination and development"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2025"	"CLCN7"	"OMIM:618541"	"Hypopigmentation, organomegaly, and delayed myelination and development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-31 13:33:51"	""	""	""	"PMID: 28106320"	"8851"	"2021-03-02"
"GENCC_000101-HGNC_2025-OMIM_166600-HP_0032113-GENCC_100004"	"HGNC:2025"	"CLCN7"	"MONDO:0008156"	"autosomal dominant osteopetrosis 2"	"OMIM:166600"	"Osteopetrosis, autosomal dominant 2"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2025"	"CLCN7"	"OMIM:166600"	"Osteopetrosis, autosomal dominant 2"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-31 13:33:51"	""	""	""	"PMID: 28106320"	"8851"	"2021-03-02"
"GENCC_000101-HGNC_2033-OMIM_617671-HP_0000007-GENCC_100003"	"HGNC:2033"	"CLDN10"	"MONDO:0060564"	"HELIX syndrome"	"OMIM:617671"	"HELIX syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2033"	"CLDN10"	"OMIM:617671"	"HELIX syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-22 13:33:51"	""	""	""	"PMID: 28106320"	"3248"	"2021-03-02"
"GENCC_000101-HGNC_2063-OMIM_300886-HP_0001417-GENCC_100005"	"HGNC:2063"	"CLIC2"	"MONDO:0010473"	"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"	"OMIM:300886"	"Intellectual developmental disorder, X-linked, syndromic 32"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2063"	"CLIC2"	"OMIM:300886"	"Mental retardation, X-linked, syndromic 32"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2018-08-15 13:33:51"	""	""	""	"PMID: 28106320"	"8839"	"2021-03-02"
"GENCC_000101-HGNC_24039-OMIM_615237-HP_0000007-GENCC_100003"	"HGNC:24039"	"CLMP"	"MONDO:0020718"	"congenital short bowel syndrome, autosomal recessive"	"OMIM:615237"	"Congenital short bowel syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24039"	"CLMP"	"OMIM:615237"	"Congenital short bowel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:52"	""	""	""	"PMID: 28106320"	"43564"	"2021-03-02"
"GENCC_000101-HGNC_2074-OMIM_204200-HP_0000007-GENCC_100001"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"OMIM:204200"	"Ceroid lipofuscinosis, neuronal, 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2074"	"CLN3"	"OMIM:204200"	"Ceroid lipofuscinosis, neuronal, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:33:52"	""	""	""	"PMID: 28106320"	"8628"	"2021-03-02"
"GENCC_000101-HGNC_2076-OMIM_256731-HP_0000007-GENCC_100001"	"HGNC:2076"	"CLN5"	"MONDO:0009745"	"neuronal ceroid lipofuscinosis 5"	"OMIM:256731"	"Ceroid lipofuscinosis, neuronal, 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2076"	"CLN5"	"OMIM:256731"	"Ceroid lipofuscinosis, neuronal, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:33:52"	""	""	""	"PMID: 28106320"	"8629"	"2021-03-02"
"GENCC_000101-HGNC_2079-OMIM_600143-HP_0000007-GENCC_100001"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"OMIM:600143"	"Ceroid lipofuscinosis, neuronal, 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2079"	"CLN8"	"OMIM:600143"	"Ceroid lipofuscinosis, neuronal, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-10-20 00:00:00"	""	""	""	"PMID: 28106320"	"6277"	"2021-03-02"
"GENCC_000101-HGNC_16999-OMIM_615803-HP_0000007-GENCC_100003"	"HGNC:16999"	"CLP1"	"MONDO:0014349"	"pontocerebellar hypoplasia type 10"	"OMIM:615803"	"Pontocerebellar hypoplasia, type 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16999"	"CLP1"	"OMIM:615803"	"Pontocerebellar hypoplasia, type 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 13:33:52"	""	""	""	"PMID: 28106320"	"82345"	"2021-03-02"
"GENCC_000101-HGNC_30664-OMIM_616271-HP_0000007-GENCC_100002"	"HGNC:30664"	"CLPB"	"MONDO:0014561"	"3-methylglutaconic aciduria, type VIIB"	"OMIM:616271"	"3-methylglutaconic aciduria, type VIIB, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30664"	"CLPB"	"OMIM:616271"	"3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-06-29 13:33:52"	""	""	""	"PMID: 28106320"	"58742"	"2021-03-02"
"GENCC_000101-HGNC_2092-OMIM_617854-HP_0000006-GENCC_100002"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"OMIM:617854"	"Intellectual developmental disorder, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2092"	"CLTC"	"OMIM:617854"	"Mental retardation, autosomal dominant 56"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-01-24 13:33:52"	""	""	""	"PMID: 28106320"	"8689"	"2021-03-02"
"GENCC_000101-HGNC_7877-OMIM_619033-HP_0000006-GENCC_100002"	"HGNC:7877"	"CNOT1"	"MONDO:0033618"	"Vissers-Bodmer syndrome"	"OMIM:619033"	"Vissers-Bodmer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7877"	"CNOT1"	"OMIM:619033"	"Vissers-Bodmer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-07-02 13:33:53"	""	""	""	"PMID: 28106320"	"69283"	"2021-03-02"
"GENCC_000101-HGNC_7879-OMIM_618672-HP_0000006-GENCC_100003"	"HGNC:7879"	"CNOT3"	"MONDO:0032864"	"intellectual developmental disorder with speech delay, autism, and dysmorphic facies"	"OMIM:618672"	"Intellectual developmental disorder with speech delay, autism, and dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7879"	"CNOT3"	"OMIM:618672"	"Intellectual developmental disorder with speech delay, autism, and dysmorphic facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-07-15 13:33:53"	""	""	""	"PMID: 28106320"	"0503"	"2021-03-02"
"GENCC_000101-HGNC_2158-OMIM_619071-HP_0000007-GENCC_100004"	"HGNC:2158"	"CNP"	"MONDO:0033657"	"leukodystrophy, hypomyelinating, 20"	"OMIM:619071"	"?Leukodystrophy, hypomyelinating, 20"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2158"	"CNP"	"OMIM:619071"	"Leukodystrophy, hypomyelinating, 20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-03-06 13:33:54"	""	""	""	"PMID: 28106320"	"8614"	"2021-03-02"
"GENCC_000101-HGNC_2171-OMIM_612540-HP_0000007-GENCC_100003"	"HGNC:2171"	"CNTN1"	"MONDO:0012929"	"Compton-North congenital myopathy"	"OMIM:612540"	"Congenital myopathy 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2171"	"CNTN1"	"OMIM:612540"	"Myopathy, congenital, Compton-North"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-14 13:33:54"	""	""	""	"PMID: 28106320"	"8646"	"2021-03-02"
"GENCC_000101-HGNC_13830-OMIM_610042-HP_0000007-GENCC_100003"	"HGNC:13830"	"CNTNAP2"	"MONDO:0012400"	"cortical dysplasia-focal epilepsy syndrome"	"OMIM:610042"	"Pitt-Hopkins like syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13830"	"CNTNAP2"	"OMIM:610042"	"Pitt-Hopkins like syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:54"	""	""	""	"PMID: 28106320"	"61204"	"2021-03-02"
"GENCC_000101-HGNC_25716-OMIM_618387-HP_0000007-GENCC_100003"	"HGNC:25716"	"COA7"	"MONDO:0020770"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"	"OMIM:618387"	"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25716"	"COA7"	"OMIM:618387"	"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-18 13:33:55"	""	""	""	"PMID: 28106320"	"17612"	"2021-03-02"
"GENCC_000101-HGNC_29932-OMIM_615643-HP_0000007-GENCC_100004"	"HGNC:29932"	"COASY"	"MONDO:0014290"	"neurodegeneration with brain iron accumulation 6"	"OMIM:615643"	"Neurodegeneration with brain iron accumulation 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29932"	"COASY"	"OMIM:615643"	"Neurodegeneration with brain iron accumulation 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13729"	"2023-08-19"
"GENCC_000101-HGNC_18620-OMIM_613489-HP_0000007-GENCC_100003"	"HGNC:18620"	"COG4"	"MONDO:0013281"	"COG4-congenital disorder of glycosylation"	"OMIM:613489"	"Congenital disorder of glycosylation, type IIj"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18620"	"COG4"	"OMIM:613489"	"Congenital disorder of glycosylation, type IIj"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-10-05 13:33:55"	""	""	""	"PMID: 28106320"	"67593"	"2021-03-02"
"GENCC_000101-HGNC_18620-OMIM_618150-HP_0000006-GENCC_100003"	"HGNC:18620"	"COG4"	"MONDO:0019407"	"microcephalic osteodysplastic dysplasia, Saul-Wilson type"	"OMIM:618150"	"Saul-Wilson syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18620"	"COG4"	"OMIM:618150"	"Saul-Wilson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-10-05 13:33:55"	""	""	""	"PMID: 28106320"	"67593"	"2021-03-02"
"GENCC_000101-HGNC_18622-OMIM_608779-HP_0000007-GENCC_100003"	"HGNC:18622"	"COG7"	"MONDO:0012118"	"COG7-congenital disorder of glycosylation"	"OMIM:608779"	"Congenital disorder of glycosylation, type IIe"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18622"	"COG7"	"OMIM:608779"	"Congenital disorder of glycosylation, type IIe"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67319"	"2025-01-17"
"GENCC_000101-HGNC_18623-OMIM_611182-HP_0000007-GENCC_100003"	"HGNC:18623"	"COG8"	"MONDO:0012635"	"COG8-congenital disorder of glycosylation"	"OMIM:611182"	"Congenital disorder of glycosylation, type IIh"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18623"	"COG8"	"OMIM:611182"	"Congenital disorder of glycosylation, type IIh"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-22 13:33:55"	""	""	""	"PMID: 28106320"	"50906"	"2021-03-02"
"GENCC_000101-HGNC_2185-OMIM_156500-HP_0000006-GENCC_100001"	"HGNC:2185"	"COL10A1"	"MONDO:0007983"	"Schmid metaphyseal chondrodysplasia"	"OMIM:156500"	"Metaphyseal chondrodysplasia, Schmid type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2185"	"COL10A1"	"OMIM:156500"	"Metaphyseal chondrodysplasia, Schmid type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2019-12-30 13:33:56"	""	""	""	"PMID: 28106320"	"8922"	"2021-03-02"
"GENCC_000101-HGNC_2188-OMIM_616471-HP_0000006-GENCC_100002"	"HGNC:2188"	"COL12A1"	"MONDO:0014655"	"Bethlem myopathy 2"	"OMIM:616471"	"Bethlem myopathy 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2188"	"COL12A1"	"OMIM:616471"	"Bethlem myopathy 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-09-27 13:33:56"	""	""	""	"PMID: 28106320"	"8929"	"2021-03-02"
"GENCC_000101-HGNC_2194-OMIM_226650-HP_0000007-GENCC_100001"	"HGNC:2194"	"COL17A1"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2194"	"COL17A1"	"OMIM:226650"	"Epidermolysis bullosa, junctional, non-Herlitz type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-10 13:33:56"	""	""	""	"PMID: 28106320"	"8925"	"2021-03-02"
"GENCC_000101-HGNC_2194-OMIM_122400-HP_0000006-GENCC_100003"	"HGNC:2194"	"COL17A1"	"MONDO:0007381"	"epithelial recurrent erosion dystrophy"	"OMIM:122400"	"Epithelial recurrent erosion dystrophy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2194"	"COL17A1"	"OMIM:122400"	"Epithelial recurrent erosion dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-10 13:33:56"	""	""	""	"PMID: 28106320"	"8925"	"2021-03-02"
"GENCC_000101-HGNC_2200-OMIM_609162-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0012206"	"spondyloepiphyseal dysplasia with metatarsal shortening"	"OMIM:609162"	"Czech dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2200"	"COL2A1"	"OMIM:609162"	"Czech dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:33:57"	""	""	""	"PMID: 28106320"	"8652"	"2021-03-02"
"GENCC_000101-HGNC_2200-OMIM_200610-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0008702"	"achondrogenesis type II"	"OMIM:200610"	"Achondrogenesis, type II or hypochondrogenesis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2200"	"COL2A1"	"OMIM:200610"	"Achondrogenesis, type II or hypochondrogenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-16 13:33:57"	""	""	""	"PMID: 28106320"	"8652"	"2021-03-02"
"GENCC_000101-HGNC_2202-OMIM_611773-HP_0000006-GENCC_100003"	"HGNC:2202"	"COL4A1"	"MONDO:0012726"	"autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome"	"OMIM:611773"	"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2202"	"COL4A1"	"OMIM:611773"	"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-02-08 00:00:00"	""	""	""	"PMID: 28106320"	"8656"	"2021-03-02"
"GENCC_000101-HGNC_2202-OMIM_175780-HP_0000006-GENCC_100003"	"HGNC:2202"	"COL4A1"	"MONDO:0008289"	"brain small vessel disease 1 with or without ocular anomalies"	"OMIM:175780"	"Brain small vessel disease with or without ocular anomalies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2202"	"COL4A1"	"OMIM:175780"	"Brain small vessel disease with or without ocular anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-02-08 00:00:00"	""	""	""	"PMID: 28106320"	"8656"	"2021-03-02"
"GENCC_000101-HGNC_2208-OMIM_300914-HP_0001417-GENCC_100004"	"HGNC:2208"	"COL4A6"	"MONDO:0010484"	"hearing loss, X-linked 6"	"OMIM:300914"	"?Deafness, X-linked 6"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2208"	"COL4A6"	"OMIM:300914"	"Deafness, X-linked 6"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:33:57"	""	""	""	"PMID: 28106320"	"8655"	"2021-03-02"
"GENCC_000101-HGNC_2209-OMIM_130000-HP_0000006-GENCC_100001"	"HGNC:2209"	"COL5A1"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"OMIM:130000"	"Ehlers-Danlos syndrome, classic type, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2209"	"COL5A1"	"OMIM:130000"	"Ehlers-Danlos syndrome, classic type, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-12-21 00:00:00"	""	""	""	"PMID: 28106320"	"8653"	"2021-03-02"
"GENCC_000101-HGNC_2219-OMIM_600969-HP_0000006-GENCC_100003"	"HGNC:2219"	"COL9A3"	"MONDO:0010964"	"epiphyseal dysplasia, multiple, 3"	"OMIM:600969"	"Epiphyseal dysplasia, multiple, 3, with or without myopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2219"	"COL9A3"	"OMIM:600969"	"Epiphyseal dysplasia, multiple, 3, with or without myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-10-19 00:00:00"	""	""	""	"PMID: 28106320"	"8633"	"2021-03-02"
"GENCC_000101-HGNC_26182-OMIM_618360-HP_0000007-GENCC_100004"	"HGNC:26182"	"COLGALT1"	"MONDO:0100105"	"brain small vessel disease 3"	"OMIM:618360"	"Brain small vessel disease 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26182"	"COLGALT1"	"OMIM:618360"	"Brain small vessel disease 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-11-21 13:33:58"	""	""	""	"PMID: 28106320"	"43423"	"2021-03-02"
"GENCC_000101-HGNC_20233-OMIM_614650-HP_0000007-GENCC_100003"	"HGNC:20233"	"COQ6"	"MONDO:0013836"	"familial steroid-resistant nephrotic syndrome with sensorineural deafness"	"OMIM:614650"	"Coenzyme Q10 deficiency, primary, 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20233"	"COQ6"	"OMIM:614650"	"Coenzyme Q10 deficiency, primary, 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:33:59"	""	""	""	"PMID: 28106320"	"78220"	"2021-03-02"
"GENCC_000101-HGNC_2244-OMIM_616733-HP_0000007-GENCC_100003"	"HGNC:2244"	"COQ7"	"MONDO:0014754"	"primary coenzyme Q10 deficiency 8"	"OMIM:616733"	"Coenzyme Q10 deficiency, primary, 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2244"	"COQ7"	"OMIM:616733"	"Coenzyme Q10 deficiency, primary, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-12 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73035"	"2025-01-17"
"GENCC_000101-HGNC_2252-OMIM_615401-HP_0000007-GENCC_100003"	"HGNC:2252"	"CORO1A"	"MONDO:0014168"	"severe combined immunodeficiency due to CORO1A deficiency"	"OMIM:615401"	"Immunodeficiency 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2252"	"CORO1A"	"OMIM:615401"	"Immunodeficiency 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-22 13:34:00"	""	""	""	"PMID: 28106320"	"88878"	"2021-03-02"
"GENCC_000101-HGNC_2263-OMIM_615119-HP_0000007-GENCC_100003"	"HGNC:2263"	"COX15"	"MONDO:0014051"	"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2"	"OMIM:615119"	"Mitochondrial complex IV deficiency, nuclear type 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2263"	"COX15"	"OMIM:615119"	"Mitochondrial complex IV deficiency, nuclear type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-05 13:34:00"	""	""	""	"PMID: 28106320"	"8977"	"2021-03-02"
"GENCC_000101-HGNC_2265-OMIM_619060-HP_0000007-GENCC_100004"	"HGNC:2265"	"COX4I1"	"MONDO:0033651"	"mitochondrial complex 4 deficiency, nuclear type 16"	"OMIM:619060"	"Mitochondrial complex IV deficiency, nuclear type 16"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2265"	"COX4I1"	"OMIM:619060"	"Mitochondrial complex IV deficiency, nuclear type 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-07-11 13:34:00"	""	""	""	"PMID: 28106320"	"8964"	"2021-03-02"
"GENCC_000101-HGNC_2277-OMIM_616039-HP_0000007-GENCC_100004"	"HGNC:2277"	"COX6A1"	"MONDO:0014467"	"Charcot-Marie-Tooth disease recessive intermediate D"	"OMIM:616039"	"Charcot-Marie-Tooth disease, recessive intermediate D"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2277"	"COX6A1"	"OMIM:616039"	"Charcot-Marie-Tooth disease, recessive intermediate D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-11-20 13:34:01"	""	""	""	"PMID: 28106320"	"8994"	"2021-03-02"
"GENCC_000101-HGNC_2279-OMIM_619062-HP_0000007-GENCC_100004"	"HGNC:2279"	"COX6A2"	"MONDO:0033653"	"mitochondrial complex 4 deficiency, nuclear type 18"	"OMIM:619062"	"Mitochondrial complex IV deficiency, nuclear type 18"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2279"	"COX6A2"	"OMIM:619062"	"Mitochondrial complex IV deficiency, nuclear type 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-06-27 13:34:01"	""	""	""	"PMID: 28106320"	"8993"	"2021-03-02"
"GENCC_000101-HGNC_2294-OMIM_619059-HP_0000007-GENCC_100004"	"HGNC:2294"	"COX8A"	"MONDO:0033650"	"mitochondrial complex 4 deficiency, nuclear type 15"	"OMIM:619059"	"?Mitochondrial complex IV deficiency, nuclear type 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2294"	"COX8A"	"OMIM:619059"	"Mitochondrial complex IV deficiency, nuclear type 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-22 13:34:01"	""	""	""	"PMID: 28106320"	"8978"	"2021-03-02"
"GENCC_000101-HGNC_23228-OMIM_617319-HP_0000007-GENCC_100003"	"HGNC:23228"	"CPAMD8"	"MONDO:0015017"	"anterior segment dysgenesis 8"	"OMIM:617319"	"Anterior segment dysgenesis 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23228"	"CPAMD8"	"OMIM:617319"	"Anterior segment dysgenesis 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-28 13:34:01"	""	""	""	"PMID: 28106320"	"64878"	"2021-03-02"
"GENCC_000101-HGNC_18540-OMIM_616282-HP_0000006-GENCC_100004"	"HGNC:18540"	"CPT1C"	"MONDO:0014568"	"hereditary spastic paraplegia 73"	"OMIM:616282"	"?Spastic paraplegia 73, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18540"	"CPT1C"	"OMIM:616282"	"Spastic paraplegia 73, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"76025"	"2023-08-19"
"GENCC_000101-HGNC_2342-OMIM_617917-HP_0000007-GENCC_100004"	"HGNC:2342"	"CRAT"	"MONDO:0054764"	"neurodegeneration with brain iron accumulation 8"	"OMIM:617917"	"?Neurodegeneration with brain iron accumulation 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2342"	"CRAT"	"OMIM:617917"	"Neurodegeneration with brain iron accumulation 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-08-29 13:34:02"	""	""	""	"PMID: 28106320"	"8950"	"2021-03-02"
"GENCC_000101-HGNC_18856-OMIM_616229-HP_0000007-GENCC_100003"	"HGNC:18856"	"CREB3L1"	"MONDO:0014544"	"osteogenesis imperfecta type 16"	"OMIM:616229"	"Osteogenesis imperfecta, type XVI"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18856"	"CREB3L1"	"OMIM:616229"	"Osteogenesis imperfecta, type XVI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-28 13:34:03"	""	""	""	"PMID: 28106320"	"32339"	"2021-03-02"
"GENCC_000101-HGNC_2348-OMIM_618332-HP_0000006-GENCC_100002"	"HGNC:2348"	"CREBBP"	"MONDO:0020763"	"Menke-Hennekam syndrome 1"	"OMIM:618332"	"Menke-Hennekam syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2348"	"CREBBP"	"OMIM:618332"	"Menke-Hennekam syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-09-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14024"	"2023-08-19"
"GENCC_000101-HGNC_2348-OMIM_180849-HP_0000006-GENCC_100001"	"HGNC:2348"	"CREBBP"	"MONDO:0008393"	"Rubinstein-Taybi syndrome due to CREBBP mutations"	"OMIM:180849"	"Rubinstein-Taybi syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2348"	"CREBBP"	"OMIM:180849"	"Rubinstein-Taybi syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-23 13:34:04"	""	""	""	"PMID: 28106320"	"8954"	"2021-03-02"
"GENCC_000101-HGNC_14312-OMIM_615789-HP_0000007-GENCC_100003"	"HGNC:14312"	"CRIPT"	"MONDO:0014347"	"Rothmund-Thomson syndrome, type 3"	"OMIM:615789"	"Rothmund-Thomson syndrome, type 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14312"	"CRIPT"	"OMIM:615789"	"Short stature with microcephaly and distinctive facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:04"	""	""	""	"PMID: 28106320"	"3083"	"2021-03-02"
"GENCC_000101-HGNC_2364-OMIM_272430-HP_0000007-GENCC_100001"	"HGNC:2364"	"CRLF1"	"MONDO:0010091"	"Cold-induced sweating syndrome 1"	"OMIM:272430"	"Cold-induced sweating syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2364"	"CRLF1"	"OMIM:272430"	"Cold-induced sweating syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:34:04"	""	""	""	"PMID: 28106320"	"3600"	"2021-03-02"
"GENCC_000101-HGNC_2383-OMIM_613829-HP_0032113-GENCC_100001"	"HGNC:2383"	"CRX"	"MONDO:0013449"	"Leber congenital amaurosis 7"	"OMIM:613829"	"Leber congenital amaurosis 7"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2383"	"CRX"	"OMIM:613829"	"Leber congenital amaurosis 7"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-09 13:34:05"	""	""	""	"PMID: 28106320"	"8021"	"2021-03-02"
"GENCC_000101-HGNC_2383-OMIM_120970-HP_0000006-GENCC_100001"	"HGNC:2383"	"CRX"	"MONDO:0007362"	"cone-rod dystrophy 2"	"OMIM:120970"	"Cone-rod retinal dystrophy-2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2383"	"CRX"	"OMIM:120970"	"Cone-rod retinal dystrophy-2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-04 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92982"	"2025-01-17"
"GENCC_000101-HGNC_2396-OMIM_610425-HP_0000006-GENCC_100003"	"HGNC:2396"	"CRYBA4"	"MONDO:0012489"	"cataract 23"	"OMIM:610425"	"Cataract 23"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2396"	"CRYBA4"	"OMIM:610425"	"Cataract 23"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-16 13:34:06"	""	""	""	"PMID: 28106320"	"8089"	"2021-03-02"
"GENCC_000101-HGNC_2397-OMIM_611544-HP_0032113-GENCC_100003"	"HGNC:2397"	"CRYBB1"	"MONDO:0012688"	"cataract 17 multiple types"	"OMIM:611544"	"Cataract 17, multiple types"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2397"	"CRYBB1"	"OMIM:611544"	"Cataract 17, multiple types"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:34:06"	""	""	""	"PMID: 28106320"	"8080"	"2021-03-02"
"GENCC_000101-HGNC_2398-OMIM_601547-HP_0000006-GENCC_100002"	"HGNC:2398"	"CRYBB2"	"MONDO:0011104"	"cataract 3 multiple types"	"OMIM:601547"	"Cataract 3, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2398"	"CRYBB2"	"OMIM:601547"	"Cataract 3, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-12 13:34:06"	""	""	""	"PMID: 28106320"	"8087"	"2021-03-02"
"GENCC_000101-HGNC_2400-OMIM_609741-HP_0032113-GENCC_100003"	"HGNC:2400"	"CRYBB3"	"MONDO:0012336"	"cataract 22 multiple types"	"OMIM:609741"	"Cataract 22"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2400"	"CRYBB3"	"OMIM:609741"	"Cataract 22"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:34:06"	""	""	""	"PMID: 28106320"	"8084"	"2021-03-02"
"GENCC_000101-HGNC_2436-OMIM_614370-HP_0000007-GENCC_100003"	"HGNC:2436"	"CSF2RB"	"MONDO:0013712"	"surfactant metabolism dysfunction, pulmonary, 5"	"OMIM:614370"	"Surfactant metabolism dysfunction, pulmonary, 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2436"	"CSF2RB"	"OMIM:614370"	"Surfactant metabolism dysfunction, pulmonary, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:06"	""	""	""	"PMID: 28106320"	"8093"	"2021-03-02"
"GENCC_000101-HGNC_24290-OMIM_618870-HP_0000007-GENCC_100003"	"HGNC:24290"	"CSGALNACT1"	"MONDO:0030029"	"skeletal dysplasia, mild, with joint laxity and advanced bone age"	"OMIM:618870"	"Skeletal dysplasia, mild, with joint laxity and advanced bone age"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24290"	"CSGALNACT1"	"OMIM:618870"	"Skeletal dysplasia, mild, with joint laxity and advanced bone age"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-07-26 13:34:07"	""	""	""	"PMID: 28106320"	"77432"	"2021-03-02"
"GENCC_000101-HGNC_2457-OMIM_617062-HP_0000006-GENCC_100002"	"HGNC:2457"	"CSNK2A1"	"MONDO:0014893"	"Okur-Chung neurodevelopmental syndrome"	"OMIM:617062"	"Okur-Chung neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2457"	"CSNK2A1"	"OMIM:617062"	"Okur-Chung neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-28 13:34:07"	""	""	""	"PMID: 28106320"	"8074"	"2021-03-02"
"GENCC_000101-HGNC_2472-OMIM_612124-HP_0000006-GENCC_100003"	"HGNC:2472"	"CSRP3"	"MONDO:0012804"	"hypertrophic cardiomyopathy 12"	"OMIM:612124"	"Cardiomyopathy, hypertrophic, 12"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2472"	"CSRP3"	"OMIM:612124"	"Cardiomyopathy, hypertrophic, 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-29 13:34:08"	""	""	""	"PMID: 28106320"	"5205"	"2021-03-02"
"GENCC_000101-HGNC_26169-OMIM_612199-HP_0000007-GENCC_100002"	"HGNC:26169"	"CTC1"	"MONDO:0024564"	"cerebroretinal microangiopathy with calcifications and cysts 1"	"OMIM:612199"	"Cerebroretinal microangiopathy with calcifications and cysts"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26169"	"CTC1"	"OMIM:612199"	"Cerebroretinal microangiopathy with calcifications and cysts"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:34:08"	""	""	""	"PMID: 28106320"	"52813"	"2021-03-02"
"GENCC_000101-HGNC_13723-OMIM_615502-HP_0000006-GENCC_100001"	"HGNC:13723"	"CTCF"	"MONDO:0014213"	"intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome"	"OMIM:615502"	"Intellectual developmental disorder, autosomal dominant 21"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13723"	"CTCF"	"OMIM:615502"	"Mental retardation, autosomal dominant 21"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-05-28 13:34:08"	""	""	""	"PMID: 28106320"	"82110"	"2021-03-02"
"GENCC_000101-HGNC_18831-OMIM_614266-HP_0000006-GENCC_100004"	"HGNC:18831"	"CTHRC1"	"MONDO:0013662"	"Barrett esophagus"	"OMIM:614266"	"Barrett esophagus/esophageal adenocarcinoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18831"	"CTHRC1"	"OMIM:614266"	"Barrett esophagus/esophageal adenocarcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-13 13:34:09"	""	""	""	"PMID: 28106320"	"887325"	"2021-03-02"
"GENCC_000101-HGNC_2511-OMIM_615616-HP_0000006-GENCC_100004"	"HGNC:2511"	"CTNNA3"	"MONDO:0000908"	"arrhythmogenic right ventricular dysplasia 13"	"OMIM:615616"	"Arrhythmogenic right ventricular dysplasia 13"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2511"	"CTNNA3"	"OMIM:615616"	"Arrhythmogenic right ventricular dysplasia, familial, 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-11-15 13:34:09"	""	""	""	"PMID: 28106320"	"63883"	"2021-03-02"
"GENCC_000101-HGNC_2515-OMIM_617681-HP_0000006-GENCC_100001"	"HGNC:2515"	"CTNND1"	"MONDO:0040503"	"blepharocheilodontic syndrome 2"	"OMIM:617681"	"Blepharocheilodontic syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2515"	"CTNND1"	"OMIM:617681"	"Blepharocheilodontic syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-07-30 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17599"	"2025-01-17"
"GENCC_000101-HGNC_2518-OMIM_219800-HP_0000007-GENCC_100001"	"HGNC:2518"	"CTNS"	"MONDO:0100151"	"nephropathic cystinosis"	"OMIM:219800"	"Cystinosis, atypical nephropathic"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2518"	"CTNS"	"OMIM:219800"	"Cystinosis, nephropathic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-21 13:34:10"	""	""	""	"PMID: 28106320"	"8034"	"2021-03-02"
"GENCC_000101-HGNC_2528-OMIM_245000-HP_0000007-GENCC_100001"	"HGNC:2528"	"CTSC"	"MONDO:0009490"	"Papillon-Lefevre disease"	"OMIM:245000"	"Papillon-Lefevre syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2528"	"CTSC"	"OMIM:245000"	"Papillon-Lefevre syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:34:10"	""	""	""	"PMID: 28106320"	"8247"	"2021-03-02"
"GENCC_000101-HGNC_2528-OMIM_245010-HP_0000007-GENCC_100003"	"HGNC:2528"	"CTSC"	"MONDO:0009491"	"Haim-Munk syndrome"	"OMIM:245010"	"Haim-Munk syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2528"	"CTSC"	"OMIM:245010"	"Haim-Munk syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:11"	""	""	""	"PMID: 28106320"	"8247"	"2021-03-02"
"GENCC_000101-HGNC_28005-OMIM_618142-HP_0000007-GENCC_100004"	"HGNC:28005"	"CTU2"	"MONDO:0020647"	"microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome"	"OMIM:618142"	"Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28005"	"CTU2"	"OMIM:618142"	"Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:34:11"	""	""	""	"PMID: 28106320"	"905852"	"2021-03-02"
"GENCC_000101-HGNC_2548-OMIM_261100-HP_0000007-GENCC_100001"	"HGNC:2548"	"CUBN"	"MONDO:0100156"	"Imerslund-Grasbeck syndrome type 1"	"OMIM:261100"	"Imerslund-Grasbeck syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2548"	"CUBN"	"OMIM:261100"	"Imerslund-Grasbeck syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-06 13:34:11"	""	""	""	"PMID: 28106320"	"5263"	"2021-03-02"
"GENCC_000101-HGNC_2557-OMIM_618330-HP_0000006-GENCC_100001"	"HGNC:2557"	"CUX1"	"MONDO:0032680"	"global developmental delay with or without impaired intellectual development"	"OMIM:618330"	"Global developmental delay with or without impaired intellectual development"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2557"	"CUX1"	"OMIM:618330"	"Global developmental delay with or without impaired intellectual development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-01-05 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11169"	"2025-01-17"
"GENCC_000101-HGNC_19347-OMIM_618141-HP_0000006-GENCC_100002"	"HGNC:19347"	"CUX2"	"MONDO:0029138"	"developmental and epileptic encephalopathy, 67"	"OMIM:618141"	"Developmental and epileptic encephalopathy 67"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19347"	"CUX2"	"OMIM:618141"	"Developmental and epileptic encephalopathy 67"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-01 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71951"	"2025-01-17"
"GENCC_000101-HGNC_25613-OMIM_616127-HP_0000007-GENCC_100003"	"HGNC:25613"	"CWF19L1"	"MONDO:0014503"	"autosomal recessive spinocerebellar ataxia 17"	"OMIM:616127"	"Spinocerebellar ataxia, autosomal recessive 17"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25613"	"CWF19L1"	"OMIM:616127"	"Spinocerebellar ataxia, autosomal recessive 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-18 13:34:12"	""	""	""	"PMID: 28106320"	"77652"	"2021-03-02"
"GENCC_000101-HGNC_26239-OMIM_301013-HP_0001417-GENCC_100004"	"HGNC:26239"	"STEEP1"	"MONDO:0049222"	"intellectual disability, X-linked 107"	"OMIM:301013"	"?Intellectual developmental disorder, X-linked 107"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26239"	"CXorf56"	"OMIM:301013"	"Mental retardation, X-linked 107"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-30 13:34:13"	""	""	""	"PMID: 28106320"	"19396"	"2021-03-02"
"GENCC_000101-HGNC_2571-OMIM_618182-HP_0000007-GENCC_100004"	"HGNC:2571"	"CYB561"	"MONDO:0020751"	"orthostatic hypotension 2"	"OMIM:618182"	"Orthostatic hypotension 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2571"	"CYB561"	"OMIM:618182"	"Orthostatic hypotension 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-22 13:34:13"	""	""	""	"PMID: 28106320"	"8790"	"2021-03-02"
"GENCC_000101-HGNC_2578-OMIM_306400-HP_0001417-GENCC_100001"	"HGNC:2578"	"CYBB"	"MONDO:0010600"	"granulomatous disease, chronic, X-linked"	"OMIM:306400"	"Chronic granulomatous disease, X-linked"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2578"	"CYBB"	"OMIM:306400"	"Chronic granulomatous disease, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-05 13:34:13"	""	""	""	"PMID: 28106320"	"8791"	"2021-03-02"
"GENCC_000101-HGNC_19986-OMIM_612004-HP_0000006-GENCC_100003"	"HGNC:19986"	"CYCS"	"MONDO:0012775"	"thrombocytopenia 4"	"OMIM:612004"	"Thrombocytopenia 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19986"	"CYCS"	"OMIM:612004"	"Thrombocytopenia 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-31 13:34:14"	""	""	""	"PMID: 28106320"	"70627"	"2021-03-02"
"GENCC_000101-HGNC_2584-OMIM_605041-HP_0000006-GENCC_100001"	"HGNC:2584"	"CYLD"	"MONDO:0011512"	"Brooke-Spiegler syndrome"	"OMIM:605041"	"Brooke-Spiegler syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2584"	"CYLD"	"OMIM:605041"	"Brooke-Spiegler syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-11-18 00:00:00"	""	""	""	"PMID: 28106320"	"8702"	"2021-03-02"
"GENCC_000101-HGNC_2591-OMIM_202010-HP_0000007-GENCC_100001"	"HGNC:2591"	"CYP11B1"	"MONDO:0008729"	"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"OMIM:202010"	"Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2591"	"CYP11B1"	"OMIM:202010"	"Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-11 13:34:14"	""	""	""	"PMID: 28106320"	"8750"	"2021-03-02"
"GENCC_000101-HGNC_2592-OMIM_203400-HP_0000007-GENCC_100003"	"HGNC:2592"	"CYP11B2"	"MONDO:0008751"	"corticosterone methyloxidase type 1 deficiency"	"OMIM:203400"	"Hypoaldosteronism, congenital, due to CMO I deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2592"	"CYP11B2"	"OMIM:203400"	"Hypoaldosteronism, congenital, due to CMO I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:34:15"	""	""	""	"PMID: 28106320"	"8757"	"2021-03-02"
"GENCC_000101-HGNC_2594-OMIM_139300-HP_0000006-GENCC_100003"	"HGNC:2594"	"CYP19A1"	"MONDO:0007690"	"aromatase excess syndrome"	"OMIM:139300"	"Aromatase excess syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2594"	"CYP19A1"	"OMIM:139300"	"Aromatase excess syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-05 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92625"	"2025-01-17"
"GENCC_000101-HGNC_2594-OMIM_613546-HP_0000007-GENCC_100001"	"HGNC:2594"	"CYP19A1"	"MONDO:0013301"	"aromatase deficiency"	"OMIM:613546"	"Aromatase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2594"	"CYP19A1"	"OMIM:613546"	"Aromatase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:34:15"	""	""	""	"PMID: 28106320"	"8755"	"2021-03-02"
"GENCC_000101-HGNC_20577-OMIM_614974-HP_0000007-GENCC_100004"	"HGNC:20577"	"CYP26C1"	"MONDO:0013997"	"focal facial dermal dysplasia type IV"	"OMIM:614974"	"Focal facial dermal dysplasia 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20577"	"CYP26C1"	"OMIM:614974"	"Focal facial dermal dysplasia 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2017-10-18 00:00:00"	""	""	""	"PMID: 28106320"	"902117"	"2021-03-02"
"GENCC_000101-HGNC_2637-OMIM_619073-HP_0000006-GENCC_100004"	"HGNC:2637"	"CYP3A4"	"MONDO:0033640"	"vitamin D-dependent rickets, type 3"	"OMIM:619073"	"Vitamin D-dependent rickets, type 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2637"	"CYP3A4"	"OMIM:619073"	"AD vitamin D-dependent rickets type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-26 13:34:16"	""	""	""	"PMID: 28106320"	"8741"	"2021-03-02"
"GENCC_000101-HGNC_2689-OMIM_223360-HP_0000007-GENCC_100003"	"HGNC:2689"	"DBH"	"MONDO:0009123"	"orthostatic hypotension 1"	"OMIM:223360"	"Orthostatic hypotension 1, due to DBH deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2689"	"DBH"	"OMIM:223360"	"Orthostatic hypotension 1, due to DBH deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-09 13:34:17"	""	""	""	"PMID: 28106320"	"8168"	"2021-03-02"
"GENCC_000101-HGNC_24891-OMIM_610100-HP_0000006-GENCC_100004"	"HGNC:24891"	"DCAF8"	"MONDO:0012411"	"giant axonal neuropathy 2"	"OMIM:610100"	"?Giant axonal neuropathy 2, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24891"	"DCAF8"	"OMIM:610100"	"Giant axonal neuropathy 2, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-10 13:34:17"	""	""	""	"PMID: 28106320"	"72484"	"2021-03-02"
"GENCC_000101-HGNC_2701-OMIM_617542-HP_0000007-GENCC_100004"	"HGNC:2701"	"DCC"	"MONDO:0054602"	"gaze palsy, familial horizontal, with progressive scoliosis, 2"	"OMIM:617542"	"Gaze palsy, familial horizontal, with progressive scoliosis, 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2701"	"DCC"	"OMIM:617542"	"Gaze palsy, familial horizontal, with progressive scoliosis, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-28 13:34:18"	""	""	""	"PMID: 28106320"	"8192"	"2021-03-02"
"GENCC_000101-HGNC_2701-OMIM_157600-HP_0000006-GENCC_100002"	"HGNC:2701"	"DCC"	"MONDO:0008002"	"mirror movements 1"	"OMIM:157600"	"Mirror movements 1 and/or agenesis of the corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2701"	"DCC"	"OMIM:157600"	"Mirror movements 1 and/or agenesis of the corpus callosum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-10-26 00:00:00"	""	""	""	"PMID: 28106320"	"8192"	"2021-03-02"
"GENCC_000101-HGNC_17642-OMIM_602450-HP_0000007-GENCC_100001"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011225"	"severe combined immunodeficiency due to DCLRE1C deficiency"	"OMIM:602450"	"Severe combined immunodeficiency, Athabascan type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17642"	"DCLRE1C"	"OMIM:602450"	"Severe combined immunodeficiency, Athabascan type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:34:18"	""	""	""	"PMID: 28106320"	"10068"	"2021-03-02"
"GENCC_000101-HGNC_17642-OMIM_603554-HP_0000007-GENCC_100004"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011338"	"Omenn syndrome"	"OMIM:603554"	"Omenn syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17642"	"DCLRE1C"	"OMIM:603554"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:34:18"	""	""	""	"PMID: 28106320"	"10068"	"2021-03-02"
"GENCC_000101-HGNC_29812-OMIM_616459-HP_0000007-GENCC_100003"	"HGNC:29812"	"DCPS"	"MONDO:0014648"	"Al-Raqad syndrome"	"OMIM:616459"	"Al-Raqad syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29812"	"DCPS"	"OMIM:616459"	"Al-Raqad syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-14 13:34:19"	""	""	""	"PMID: 28106320"	"65312"	"2021-03-02"
"GENCC_000101-HGNC_2719-OMIM_608643-HP_0000007-GENCC_100001"	"HGNC:2719"	"DDC"	"MONDO:0012084"	"aromatic L-amino acid decarboxylase deficiency"	"OMIM:608643"	"Aromatic L-amino acid decarboxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2719"	"DDC"	"OMIM:608643"	"Aromatic L-amino acid decarboxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-04 13:34:19"	""	""	""	"PMID: 28106320"	"8100"	"2021-03-02"
"GENCC_000101-HGNC_19714-OMIM_609340-HP_0000007-GENCC_100003"	"HGNC:19714"	"DDHD1"	"MONDO:0012256"	"hereditary spastic paraplegia 28"	"OMIM:609340"	"Spastic paraplegia 28, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19714"	"DDHD1"	"OMIM:609340"	"Spastic paraplegia 28, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-13 13:34:19"	""	""	""	"PMID: 28106320"	"52568"	"2021-03-02"
"GENCC_000101-HGNC_2745-OMIM_300958-HP_0001417-GENCC_100001"	"HGNC:2745"	"DDX3X"	"MONDO:0010497"	"intellectual disability, X-linked 102"	"OMIM:300958"	"Intellectual developmental disorder, X-linked syndromic, Snijders Blok type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2745"	"DDX3X"	"OMIM:300958"	"Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-05 13:34:19"	""	""	""	"PMID: 28106320"	"8170"	"2021-03-02"
"GENCC_000101-HGNC_14677-OMIM_615828-HP_0000006-GENCC_100002"	"HGNC:14677"	"DEAF1"	"MONDO:0014357"	"intellectual disability, autosomal dominant 24"	"OMIM:615828"	"Vulto-van Silfout-de Vries syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14677"	"DEAF1"	"OMIM:615828"	"Vulto-van Silfout-de Vries syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-01-24 13:34:19"	""	""	""	"PMID: 28106320"	"82766"	"2021-03-02"
"GENCC_000101-HGNC_14677-OMIM_617171-HP_0000007-GENCC_100003"	"HGNC:14677"	"DEAF1"	"MONDO:0014952"	"intellectual disability-epilepsy-extrapyramidal syndrome"	"OMIM:617171"	"Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14677"	"DEAF1"	"OMIM:617171"	"Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-24 13:34:20"	""	""	""	"PMID: 28106320"	"82766"	"2021-03-02"
"GENCC_000101-HGNC_13709-OMIM_618404-HP_0000007-GENCC_100003"	"HGNC:13709"	"DEGS1"	"MONDO:0032730"	"leukodystrophy, hypomyelinating, 18"	"OMIM:618404"	"Leukodystrophy, hypomyelinating, 18"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13709"	"DEGS1"	"OMIM:618404"	"Leukodystrophy, hypomyelinating, 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-14 13:34:20"	""	""	""	"PMID: 28106320"	"5712"	"2021-03-02"
"GENCC_000101-HGNC_18423-OMIM_604364-HP_0000006-GENCC_100001"	"HGNC:18423"	"DEPDC5"	"MONDO:0024556"	"epilepsy, familial focal, with variable foci 1"	"OMIM:604364"	"Epilepsy, familial focal, with variable foci 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18423"	"DEPDC5"	"OMIM:604364"	"Epilepsy, familial focal, with variable foci 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-07-30 00:00:00"	""	""	""	"PMID: 28106320"	"3158"	"2021-03-02"
"GENCC_000101-HGNC_2843-OMIM_615863-HP_0000007-GENCC_100003"	"HGNC:2843"	"DGAT1"	"MONDO:0014375"	"congenital diarrhea 7 with exudative enteropathy"	"OMIM:615863"	"Diarrhea 7, protein-losing enteropathy type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2843"	"DGAT1"	"OMIM:615863"	"Diarrhea 7, protein-losing enteropathy type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-22 13:34:20"	""	""	""	"PMID: 28106320"	"5130"	"2021-03-02"
"GENCC_000101-HGNC_2852-OMIM_615008-HP_0000007-GENCC_100003"	"HGNC:2852"	"DGKE"	"MONDO:0014005"	"immunoglobulin-mediated membranoproliferative glomerulonephritis"	"OMIM:615008"	"Nephrotic syndrome, type 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2852"	"DGKE"	"OMIM:615008"	"Nephrotic syndrome, type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-28 13:34:21"	""	""	""	"PMID: 28106320"	"5761"	"2021-03-02"
"GENCC_000101-HGNC_2869-OMIM_618480-HP_0000007-GENCC_100004"	"HGNC:2869"	"DHPS"	"MONDO:0032775"	"neurodevelopmental disorder with seizures and speech and walking impairment"	"OMIM:618480"	"Neurodevelopmental disorder with seizures and speech and walking impairment"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2869"	"DHPS"	"OMIM:618480"	"Neurodevelopmental disorder with seizures and speech and walking impairment"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-21 13:34:21"	""	""	""	"PMID: 28106320"	"8467"	"2021-03-02"
"GENCC_000101-HGNC_17210-OMIM_618731-HP_0000007-GENCC_100004"	"HGNC:17210"	"DHX37"	"MONDO:0032888"	"neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies"	"OMIM:618731"	"Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17210"	"DHX37"	"OMIM:618731"	"Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-25 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74338"	"2024-01-02"
"GENCC_000101-HGNC_15480-OMIM_609129-HP_0000006-GENCC_100004"	"HGNC:15480"	"DIAPH3"	"MONDO:0012196"	"autosomal dominant auditory neuropathy 1"	"OMIM:609129"	"Auditory neuropathy, autosomal dominant 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15480"	"DIAPH3"	"OMIM:609129"	"Auditory neuropathy, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-20 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61251"	"2025-01-17"
"GENCC_000101-HGNC_29284-OMIM_136630-HP_0000006-GENCC_100004"	"HGNC:29284"	"DIP2B"	"MONDO:0007634"	"intellectual disability, FRA12A type"	"OMIM:136630"	"Intellectual developmental disorder, autosomal dominant, FRA12A type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29284"	"DIP2B"	"OMIM:136630"	"Intellectual developmental disorder, autosomal dominant, FRA12A type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-09-29 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61997"	"2024-01-02"
"GENCC_000101-HGNC_2896-OMIM_245348-HP_0000007-GENCC_100003"	"HGNC:2896"	"DLAT"	"MONDO:0009502"	"pyruvate dehydrogenase E2 deficiency"	"OMIM:245348"	"Pyruvate dehydrogenase E2 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2896"	"DLAT"	"OMIM:245348"	"Pyruvate dehydrogenase E2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-13 13:34:22"	""	""	""	"PMID: 28106320"	"8494"	"2021-03-02"
"GENCC_000101-HGNC_2897-OMIM_114500-HP_0000005-GENCC_100008"	"HGNC:2897"	"DLC1"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2897"	"DLC1"	"OMIM:114500"	"Colorectal cancer, somatic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-08-30 13:34:22"	""	""	""	"PMID: 28106320"	"82937"	"2021-03-02"
"GENCC_000101-HGNC_2898-OMIM_246900-HP_0000007-GENCC_100002"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"OMIM:246900"	"Dihydrolipoamide dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2898"	"DLD"	"OMIM:246900"	"Dihydrolipoamide dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:34:22"	""	""	""	"PMID: 28106320"	"8495"	"2021-03-02"
"GENCC_000101-HGNC_2903-OMIM_618793-HP_0000006-GENCC_100002"	"HGNC:2903"	"DLG4"	"MONDO:0032919"	"intellectual developmental disorder 62"	"OMIM:618793"	"Intellectual developmental disorder, autosomal dominant 62"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2903"	"DLG4"	"OMIM:618793"	"Intellectual developmental disorder 62"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-10 13:34:23"	""	""	""	"PMID: 28106320"	"8406"	"2021-03-02"
"GENCC_000101-HGNC_2908-OMIM_618709-HP_0000006-GENCC_100001"	"HGNC:2908"	"DLL1"	"MONDO:0032877"	"neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"OMIM:618709"	"Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2908"	"DLL1"	"OMIM:618709"	"Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-15 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11531"	"2025-01-17"
"GENCC_000101-HGNC_2911-OMIM_618475-HP_0000006-GENCC_100004"	"HGNC:2911"	"DLST"	"MONDO:0032771"	"paragangliomas 7"	"OMIM:618475"	"Pheochromocytoma/paraganglioma syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2911"	"DLST"	"OMIM:618475"	"Pheochromocytoma/paraganglioma syndrome 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-23 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11562"	"2024-01-02"
"GENCC_000101-HGNC_2916-OMIM_190320-HP_0000006-GENCC_100003"	"HGNC:2916"	"DLX3"	"MONDO:0008592"	"tricho-dento-osseous syndrome"	"OMIM:190320"	"Trichodontoosseous syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2916"	"DLX3"	"OMIM:190320"	"Trichodontoosseous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:24"	""	""	""	"PMID: 28106320"	"8404"	"2021-03-02"
"GENCC_000101-HGNC_2916-OMIM_104510-HP_0000006-GENCC_100004"	"HGNC:2916"	"DLX3"	"MONDO:0007093"	"hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"	"OMIM:104510"	"Amelogenesis imperfecta, type IV"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2916"	"DLX3"	"OMIM:104510"	"Amelogenesis imperfecta, type IV"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-23 13:34:25"	""	""	""	"PMID: 28106320"	"8404"	"2021-03-02"
"GENCC_000101-HGNC_2928-OMIM_300376-HP_0001417-GENCC_100001"	"HGNC:2928"	"DMD"	"MONDO:0010311"	"Becker muscular dystrophy"	"OMIM:300376"	"Becker muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2928"	"DMD"	"OMIM:300376"	"Becker muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-11-09 00:00:00"	""	""	""	"PMID: 28106320"	"8471"	"2021-03-02"
"GENCC_000101-HGNC_2928-OMIM_302045-HP_0001417-GENCC_100001"	"HGNC:2928"	"DMD"	"MONDO:0010542"	"dilated cardiomyopathy 3B"	"OMIM:302045"	"Cardiomyopathy, dilated, 3B"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2928"	"DMD"	"OMIM:302045"	"Cardiomyopathy, dilated, 3B"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-11-09 00:00:00"	""	""	""	"PMID: 28106320"	"8471"	"2021-03-02"
"GENCC_000101-HGNC_2928-OMIM_310200-HP_0001417-GENCC_100001"	"HGNC:2928"	"DMD"	"MONDO:0010679"	"Duchenne muscular dystrophy"	"OMIM:310200"	"Duchenne muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2928"	"DMD"	"OMIM:310200"	"Duchenne muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-26 13:34:25"	""	""	""	"PMID: 28106320"	"8471"	"2021-03-02"
"GENCC_000101-HGNC_2938-OMIM_616113-HP_0000007-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0014497"	"polyendocrine-polyneuropathy syndrome"	"OMIM:616113"	"?Polyendocrine-polyneuropathy syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2938"	"DMXL2"	"OMIM:616113"	"Polyendocrine-polyneuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-23 13:34:26"	""	""	""	"PMID: 28106320"	"69986"	"2021-03-02"
"GENCC_000101-HGNC_2938-OMIM_617605-HP_0000006-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0033258"	"hearing loss, autosomal dominant 71"	"OMIM:617605"	"?Deafness, autosomal dominant 71"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2938"	"DMXL2"	"OMIM:617605"	"Deafness, autosomal dominant 71"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17721"	"2023-08-19"
"GENCC_000101-HGNC_2938-OMIM_618663-HP_0000007-GENCC_100003"	"HGNC:2938"	"DMXL2"	"MONDO:0032858"	"developmental and epileptic encephalopathy, 81"	"OMIM:618663"	"Developmental and epileptic encephalopathy 81"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2938"	"DMXL2"	"OMIM:618663"	"Developmental and epileptic encephalopathy 81"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-11-15 13:34:26"	""	""	""	"PMID: 28106320"	"69986"	"2021-03-02"
"GENCC_000101-HGNC_2939-OMIM_615807-HP_0000007-GENCC_100003"	"HGNC:2939"	"DNA2"	"MONDO:0014350"	"Seckel syndrome 8"	"OMIM:615807"	"Seckel syndrome 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2939"	"DNA2"	"OMIM:615807"	"Seckel syndrome 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-24 13:34:26"	""	""	""	"PMID: 28106320"	"8419"	"2021-03-02"
"GENCC_000101-HGNC_2939-OMIM_615156-HP_0000006-GENCC_100003"	"HGNC:2939"	"DNA2"	"MONDO:0014062"	"mitochondrial DNA deletion syndrome with progressive myopathy"	"OMIM:615156"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2939"	"DNA2"	"OMIM:615156"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-12-04 00:00:00"	""	""	""	"PMID: 28106320"	"8419"	"2021-03-02"
"GENCC_000101-HGNC_20188-OMIM_612518-HP_0000007-GENCC_100003"	"HGNC:20188"	"DNAAF2"	"MONDO:0012918"	"primary ciliary dyskinesia 10"	"OMIM:612518"	"Ciliary dyskinesia, primary, 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20188"	"DNAAF2"	"OMIM:612518"	"CILIARY DYSKINESIA, PRIMARY, 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-09 13:34:27"	""	""	""	"PMID: 28106320"	"77846"	"2021-03-02"
"GENCC_000101-HGNC_30492-OMIM_606763-HP_0000007-GENCC_100003"	"HGNC:30492"	"DNAAF3"	"MONDO:0011718"	"primary ciliary dyskinesia 2"	"OMIM:606763"	"Ciliary dyskinesia, primary, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30492"	"DNAAF3"	"OMIM:606763"	"Ciliary dyskinesia, primary, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-24 13:34:27"	""	""	""	"PMID: 28106320"	"976323"	"2021-03-02"
"GENCC_000101-HGNC_26013-OMIM_614874-HP_0000007-GENCC_100003"	"HGNC:26013"	"DNAAF5"	"MONDO:0013940"	"primary ciliary dyskinesia 18"	"OMIM:614874"	"Ciliary dyskinesia, primary, 18"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26013"	"DNAAF5"	"OMIM:614874"	"Ciliary dyskinesia, primary, 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-29 13:34:27"	""	""	""	"PMID: 28106320"	"70383"	"2021-03-02"
"GENCC_000101-HGNC_2953-OMIM_618300-HP_0000007-GENCC_100003"	"HGNC:2953"	"DNAH9"	"MONDO:0032664"	"ciliary dyskinesia, primary, 40"	"OMIM:618300"	"Ciliary dyskinesia, primary, 40"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2953"	"DNAH9"	"OMIM:618300"	"Ciliary dyskinesia, primary, 40"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-12-13 13:34:27"	""	""	""	"PMID: 28106320"	"8442"	"2021-03-02"
"GENCC_000101-HGNC_14889-OMIM_618061-HP_0000006-GENCC_100003"	"HGNC:14889"	"DNAJB11"	"MONDO:0054842"	"polycystic kidney disease 6 with or without polycystic liver disease"	"OMIM:618061"	"Polycystic kidney disease 6 with or without polycystic liver disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14889"	"DNAJB11"	"OMIM:618061"	"Polycystic kidney disease 6 with or without polycystic liver disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-04 13:34:27"	""	""	""	"PMID: 28106320"	"78461"	"2021-03-02"
"GENCC_000101-HGNC_30718-OMIM_617091-HP_0000007-GENCC_100004"	"HGNC:30718"	"DNAJB13"	"MONDO:0014909"	"primary ciliary dyskinesia 34"	"OMIM:617091"	"Ciliary dyskinesia, primary, 34"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30718"	"DNAJB13"	"OMIM:617091"	"Ciliary dyskinesia, primary, 34"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-30 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18997"	"2024-01-02"
"GENCC_000101-HGNC_27030-OMIM_617052-HP_0000007-GENCC_100003"	"HGNC:27030"	"DNAJC21"	"MONDO:0014887"	"bone marrow failure syndrome 3"	"OMIM:617052"	"Bone marrow failure syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27030"	"DNAJC21"	"OMIM:617052"	"Bone marrow failure syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-12 13:34:28"	""	""	""	"PMID: 28106320"	"890685"	"2021-03-02"
"GENCC_000101-HGNC_9439-OMIM_616192-HP_0000007-GENCC_100003"	"HGNC:9439"	"DNAJC3"	"MONDO:0014523"	"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"OMIM:616192"	"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9439"	"DNAJC3"	"OMIM:616192"	"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:34:28"	""	""	""	"PMID: 28106320"	"7188"	"2021-03-02"
"GENCC_000101-HGNC_23247-OMIM_614017-HP_0000007-GENCC_100003"	"HGNC:23247"	"DNAL1"	"MONDO:0013525"	"primary ciliary dyskinesia 16"	"OMIM:614017"	"Ciliary dyskinesia, primary, 16"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23247"	"DNAL1"	"OMIM:614017"	"Ciliary dyskinesia, primary, 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-29 13:34:28"	""	""	""	"PMID: 28106320"	"59700"	"2021-03-02"
"GENCC_000101-HGNC_2972-OMIM_616346-HP_0000006-GENCC_100003"	"HGNC:2972"	"DNM1"	"MONDO:0014598"	"developmental and epileptic encephalopathy, 31A"	"OMIM:616346"	"Developmental and epileptic encephalopathy 31A, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2972"	"DNM1"	"OMIM:616346"	"Developmental and epileptic encephalopathy 31"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-09-17 00:00:00"	""	""	""	"PMID: 28106320"	"8473"	"2021-03-02"
"GENCC_000101-HGNC_2974-OMIM_160150-HP_0000006-GENCC_100003"	"HGNC:2974"	"DNM2"	"MONDO:0008048"	"autosomal dominant centronuclear myopathy"	"OMIM:160150"	"Centronuclear myopathy 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2974"	"DNM2"	"OMIM:160150"	"Centronuclear myopathy 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:34:28"	""	""	""	"PMID: 28106320"	"8457"	"2021-03-02"
"GENCC_000101-HGNC_2974-OMIM_606482-HP_0000006-GENCC_100003"	"HGNC:2974"	"DNM2"	"MONDO:0011674"	"Charcot-Marie-Tooth disease dominant intermediate B"	"OMIM:606482"	"Charcot-Marie-Tooth disease, dominant intermediate B"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2974"	"DNM2"	"OMIM:606482"	"Charcot-Marie-Tooth disease, axonal type 2M"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:34:29"	""	""	""	"PMID: 28106320"	"8457"	"2021-03-02"
"GENCC_000101-HGNC_2974-OMIM_615368-HP_0000007-GENCC_100004"	"HGNC:2974"	"DNM2"	"MONDO:0014149"	"fetal akinesia-cerebral and retinal hemorrhage syndrome"	"OMIM:615368"	"Lethal congenital contracture syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2974"	"DNM2"	"OMIM:615368"	"Lethal congenital contracture syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-23 13:34:29"	""	""	""	"PMID: 28106320"	"8457"	"2021-03-02"
"GENCC_000101-HGNC_2979-OMIM_242860-HP_0000007-GENCC_100001"	"HGNC:2979"	"DNMT3B"	"MONDO:0009454"	"immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"OMIM:242860"	"Immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2979"	"DNMT3B"	"OMIM:242860"	"Immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-19 13:34:30"	""	""	""	"PMID: 28106320"	"8453"	"2021-03-02"
"GENCC_000101-HGNC_19190-OMIM_615859-HP_0000007-GENCC_100003"	"HGNC:19190"	"DOCK7"	"MONDO:0014371"	"developmental and epileptic encephalopathy, 23"	"OMIM:615859"	"Developmental and epileptic encephalopathy 23"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19190"	"DOCK7"	"OMIM:615859"	"Developmental and epileptic encephalopathy 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-18 13:34:30"	""	""	""	"PMID: 28106320"	"57002"	"2021-03-02"
"GENCC_000101-HGNC_19191-OMIM_243700-HP_0000007-GENCC_100003"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"OMIM:243700"	"Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19191"	"DOCK8"	"OMIM:243700"	"Hyper-IgE recurrent infection syndrome, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-12-29 00:00:00"	""	""	""	"PMID: 28106320"	"58420"	"2021-03-02"
"GENCC_000101-HGNC_2993-OMIM_617604-HP_0000007-GENCC_100002"	"HGNC:2993"	"DONSON"	"MONDO:0060533"	"microcephaly, short stature, and limb abnormalities"	"OMIM:617604"	"Microcephaly, short stature, and limb abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2993"	"DONSON"	"OMIM:617604"	"Microcephaly, short stature, and limb abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-26 13:34:30"	""	""	""	"PMID: 28106320"	"63352"	"2021-03-02"
"GENCC_000101-HGNC_9964-OMIM_618027-HP_0000006-GENCC_100003"	"HGNC:9964"	"DPF2"	"MONDO:0054831"	"Coffin-Siris syndrome 7"	"OMIM:618027"	"Coffin-Siris syndrome 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9964"	"DPF2"	"OMIM:618027"	"Coffin-Siris syndrome 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-08 13:34:31"	""	""	""	"PMID: 28106320"	"7344"	"2021-03-02"
"GENCC_000101-HGNC_3003-OMIM_616901-HP_0000007-GENCC_100003"	"HGNC:3003"	"DPH1"	"MONDO:0014824"	"craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"	"OMIM:616901"	"Developmental delay with short stature, dysmorphic facial features, and sparse hair"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3003"	"DPH1"	"OMIM:616901"	"Developmental delay with short stature, dysmorphic facial features, and sparse hair"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-21 13:34:31"	""	""	""	"PMID: 28106320"	"8528"	"2021-03-02"
"GENCC_000101-HGNC_3006-OMIM_615042-HP_0000007-GENCC_100004"	"HGNC:3006"	"DPM2"	"MONDO:0014023"	"congenital muscular dystrophy with intellectual disability and severe epilepsy"	"OMIM:615042"	"Congenital disorder of glycosylation, type Iu"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3006"	"DPM2"	"OMIM:615042"	"Congenital disorder of glycosylation, type Iu"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64969"	"2023-08-19"
"GENCC_000101-HGNC_3010-OMIM_616311-HP_0000006-GENCC_100004"	"HGNC:3010"	"DPP6"	"MONDO:0014580"	"intellectual disability, autosomal dominant 33"	"OMIM:616311"	"Intellectual developmental disorder, autosomal dominant 33"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3010"	"DPP6"	"OMIM:616311"	"Intellectual developmental disorder, autosomal dominant 33"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-03 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76977"	"2025-01-17"
"GENCC_000101-HGNC_3010-OMIM_612956-HP_0000006-GENCC_100004"	"HGNC:3010"	"DPP6"	"MONDO:0013063"	"ventricular fibrillation, paroxysmal familial, 2"	"OMIM:612956"	"{Ventricular fibrillation, paroxysmal familial, 2}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3010"	"DPP6"	"OMIM:612956"	"Ventricular fibrillation, paroxysmal familial, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-02 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92889"	"2025-01-17"
"GENCC_000101-HGNC_19414-OMIM_613958-HP_0000007-GENCC_100002"	"HGNC:19414"	"DPY19L2"	"MONDO:0013505"	"spermatogenic failure 9"	"OMIM:613958"	"Spermatogenic failure 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19414"	"DPY19L2"	"OMIM:613958"	"Spermatogenic failure 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-20 13:34:33"	""	""	""	"PMID: 28106320"	"659084"	"2021-03-02"
"GENCC_000101-HGNC_24245-OMIM_615294-HP_0000007-GENCC_100003"	"HGNC:24245"	"DRC1"	"MONDO:0014123"	"primary ciliary dyskinesia 21"	"OMIM:615294"	"Ciliary dyskinesia, primary, 21"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24245"	"DRC1"	"OMIM:615294"	"Ciliary dyskinesia, primary, 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-11 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78008"	"2025-01-17"
"GENCC_000101-HGNC_3036-OMIM_610476-HP_0032113-GENCC_100001"	"HGNC:3036"	"DSC2"	"MONDO:0012506"	"arrhythmogenic right ventricular dysplasia 11"	"OMIM:610476"	"Arrhythmogenic right ventricular dysplasia 11"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3036"	"DSC2"	"OMIM:610476"	"Arrhythmogenic right ventricular dysplasia 11"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-06 13:34:33"	""	""	""	"PMID: 28106320"	"8560"	"2021-03-02"
"GENCC_000101-HGNC_21144-OMIM_615539-HP_0000007-GENCC_100003"	"HGNC:21144"	"DSE"	"MONDO:0014236"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"OMIM:615539"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21144"	"DSE"	"OMIM:615539"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:33"	""	""	""	"PMID: 28106320"	"63302"	"2021-03-02"
"GENCC_000101-HGNC_3049-OMIM_610193-HP_0000006-GENCC_100001"	"HGNC:3049"	"DSG2"	"MONDO:0012434"	"arrhythmogenic right ventricular dysplasia 10"	"OMIM:610193"	"Arrhythmogenic right ventricular dysplasia 10"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3049"	"DSG2"	"OMIM:610193"	"Arrhythmogenic right ventricular dysplasia 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:34:34"	""	""	""	"PMID: 28106320"	"8563"	"2021-03-02"
"GENCC_000101-HGNC_3057-OMIM_604169-HP_0000006-GENCC_100004"	"HGNC:3057"	"DTNA"	"MONDO:0011403"	"left ventricular noncompaction 1"	"OMIM:604169"	"Left ventricular noncompaction 1, with or without congenital heart defects"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3057"	"DTNA"	"OMIM:604169"	"Left ventricular noncompaction 1, with or without congenital heart defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:34:34"	""	""	""	"PMID: 28106320"	"8594"	"2021-03-02"
"GENCC_000101-HGNC_32698-OMIM_274900-HP_0000007-GENCC_100003"	"HGNC:32698"	"DUOXA2"	"MONDO:0010137"	"thyroid dyshormonogenesis 5"	"OMIM:274900"	"Thyroid dyshormonogenesis 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32698"	"DUOXA2"	"OMIM:274900"	"Thyroid dyshormonogenesis 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:35"	""	""	""	"PMID: 28106320"	"027479"	"2021-03-02"
"GENCC_000101-HGNC_21317-OMIM_223800-HP_0000007-GENCC_100002"	"HGNC:21317"	"DYM"	"MONDO:0009130"	"Dyggve-Melchior-Clausen disease"	"OMIM:223800"	"Dyggve-Melchior-Clausen disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21317"	"DYM"	"OMIM:223800"	"Dyggve-Melchior-Clausen disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:34:35"	""	""	""	"PMID: 28106320"	"70525"	"2021-03-02"
"GENCC_000101-HGNC_21317-OMIM_607326-HP_0000007-GENCC_100003"	"HGNC:21317"	"DYM"	"MONDO:0011814"	"Smith-McCort dysplasia 1"	"OMIM:607326"	"Smith-McCort dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21317"	"DYM"	"OMIM:607326"	"Smith-McCort dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:36"	""	""	""	"PMID: 28106320"	"70525"	"2021-03-02"
"GENCC_000101-HGNC_2962-OMIM_613091-HP_0000007-GENCC_100001"	"HGNC:2962"	"DYNC2H1"	"MONDO:0013127"	"asphyxiating thoracic dystrophy 3"	"OMIM:613091"	"Short-rib thoracic dysplasia 3 with or without polydactyly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2962"	"DYNC2H1"	"OMIM:613091"	"Short-rib thoracic dysplasia 3 with or without polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-12 13:34:36"	""	""	""	"PMID: 28106320"	"43173"	"2021-03-02"
"GENCC_000101-HGNC_3151-OMIM_616277-HP_0000007-GENCC_100003"	"HGNC:3151"	"ECHS1"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"OMIM:616277"	"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3151"	"ECHS1"	"OMIM:616277"	"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-08-14 00:00:00"	""	""	""	"PMID: 28106320"	"8536"	"2021-03-02"
"GENCC_000101-HGNC_3178-OMIM_613265-HP_0032113-GENCC_100003"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"OMIM:613265"	"Waardenburg syndrome, type 4B"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3178"	"EDN3"	"OMIM:613265"	"Waardenburg syndrome, type 4B"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-11 13:34:36"	""	""	""	"PMID: 28106320"	"8325"	"2021-03-02"
"GENCC_000101-HGNC_3178-OMIM_613712-HP_0000006-GENCC_100004"	"HGNC:3178"	"EDN3"	"MONDO:0013384"	"Hirschsprung disease, susceptibility to, 4"	"OMIM:613712"	"{Hirschsprung disease, susceptibility to, 4}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3178"	"EDN3"	"OMIM:613712"	"Hirschsprung disease, susceptibility to, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-06 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92212"	"2025-01-17"
"GENCC_000101-HGNC_3188-OMIM_617561-HP_0000006-GENCC_100003"	"HGNC:3188"	"EED"	"MONDO:0060510"	"Cohen-Gibson syndrome"	"OMIM:617561"	"Cohen-Gibson syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3188"	"EED"	"OMIM:617561"	"Cohen-Gibson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-06 13:34:37"	""	""	""	"PMID: 28106320"	"5461"	"2021-03-02"
"GENCC_000101-HGNC_3192-OMIM_616409-HP_0000006-GENCC_100003"	"HGNC:3192"	"EEF1A2"	"MONDO:0014625"	"developmental and epileptic encephalopathy, 33"	"OMIM:616409"	"Developmental and epileptic encephalopathy 33"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3192"	"EEF1A2"	"OMIM:616409"	"Developmental and epileptic encephalopathy 33"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-19 13:34:37"	""	""	""	"PMID: 28106320"	"8384"	"2021-03-02"
"GENCC_000101-HGNC_3219-OMIM_614437-HP_0000007-GENCC_100002"	"HGNC:3219"	"EFEMP2"	"MONDO:0013754"	"cutis laxa, autosomal recessive, type 1B"	"OMIM:614437"	"Cutis laxa, autosomal recessive, type IB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3219"	"EFEMP2"	"OMIM:614437"	"Cutis laxa, autosomal recessive, type IB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-29 13:34:37"	""	""	""	"PMID: 28106320"	"92225"	"2021-03-02"
"GENCC_000101-HGNC_25789-OMIM_617941-HP_0000007-GENCC_100003"	"HGNC:25789"	"EFL1"	"MONDO:0044205"	"Shwachman-Diamond syndrome 2"	"OMIM:617941"	"Shwachman-Diamond syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25789"	"EFL1"	"OMIM:617941"	"Shwachman-Diamond syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-26 13:34:38"	""	""	""	"PMID: 28106320"	"43198"	"2021-03-02"
"GENCC_000101-HGNC_3226-OMIM_304110-HP_0001417-GENCC_100001"	"HGNC:3226"	"EFNB1"	"MONDO:0010570"	"craniofrontonasal syndrome"	"OMIM:304110"	"Craniofrontonasal dysplasia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3226"	"EFNB1"	"OMIM:304110"	"Craniofrontonasal dysplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-21 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92279"	"2025-01-17"
"GENCC_000101-HGNC_3236-OMIM_616069-HP_0000007-GENCC_100003"	"HGNC:3236"	"EGFR"	"MONDO:0014481"	"inflammatory skin and bowel disease, neonatal, 2"	"OMIM:616069"	"Neonatal nephrocutaneous inflammatory syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3236"	"EGFR"	"OMIM:616069"	"Inflammatory skin and bowel disease, neonatal, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-20 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78131"	"2024-01-02"
"GENCC_000101-HGNC_3236-OMIM_211980-HP_0000006-GENCC_100001"	"HGNC:3236"	"EGFR"	"MONDO:0008903"	"lung cancer"	"OMIM:211980"	"{Lung cancer, resistance to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3236"	"EGFR"	"OMIM:211980"	"Nonsmall cell lung cancer, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-09-20 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6871"	"2024-01-02"
"GENCC_000101-HGNC_3239-OMIM_607678-HP_0000006-GENCC_100002"	"HGNC:3239"	"EGR2"	"MONDO:0011890"	"Charcot-Marie-Tooth disease type 1D"	"OMIM:607678"	"Charcot-Marie-Tooth disease, type 1D"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3239"	"EGR2"	"OMIM:607678"	"Charcot-Marie-Tooth disease, type 1D"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-14 13:34:39"	""	""	""	"PMID: 28106320"	"8373"	"2021-03-02"
"GENCC_000101-HGNC_3239-OMIM_145900-HP_0032113-GENCC_100003"	"HGNC:3239"	"EGR2"	"MONDO:0007790"	"Charcot-Marie-Tooth disease type 3"	"OMIM:145900"	"Dejerine-Sottas disease"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3239"	"EGR2"	"OMIM:145900"	"Dejerine-Sottas disease"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-22 13:34:40"	""	""	""	"PMID: 28106320"	"8373"	"2021-03-02"
"GENCC_000101-HGNC_3239-OMIM_605253-HP_0000007-GENCC_100004"	"HGNC:3239"	"EGR2"	"MONDO:0011527"	"Charcot-Marie-Tooth disease type 4E"	"OMIM:605253"	"Hypomyelinating neuropathy, congenital, 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3239"	"EGR2"	"OMIM:605253"	"Hypomyelinating neuropathy, congenital, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-14 13:34:40"	""	""	""	"PMID: 28106320"	"8373"	"2021-03-02"
"GENCC_000101-HGNC_24650-OMIM_610253-HP_0000006-GENCC_100001"	"HGNC:24650"	"EHMT1"	"MONDO:0027407"	"Kleefstra syndrome 1"	"OMIM:610253"	"Kleefstra syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24650"	"EHMT1"	"OMIM:610253"	"Kleefstra syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-09-18 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61894"	"2025-01-17"
"GENCC_000101-HGNC_24921-OMIM_618878-HP_0000006-GENCC_100004"	"HGNC:24921"	"EIF2AK1"	"MONDO:0030036"	"leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"	"OMIM:618878"	"?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24921"	"EIF2AK1"	"OMIM:618878"	"Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-05 13:34:41"	""	""	""	"PMID: 28106320"	"64826"	"2021-03-02"
"GENCC_000101-HGNC_3275-OMIM_618295-HP_0000007-GENCC_100003"	"HGNC:3275"	"EIF3F"	"MONDO:0032662"	"intellectual developmental disorder, autosomal recessive 67"	"OMIM:618295"	"Intellectual developmental disorder, autosomal recessive 67"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3275"	"EIF3F"	"OMIM:618295"	"Mental retardation, autosomal recessive 67"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-16 13:34:41"	""	""	""	"PMID: 28106320"	"5117"	"2021-03-02"
"GENCC_000101-HGNC_18683-OMIM_268305-HP_0000007-GENCC_100003"	"HGNC:18683"	"EIF4A3"	"MONDO:0009998"	"Richieri Costa-Pereira syndrome"	"OMIM:268305"	"Robin sequence with cleft mandible and limb anomalies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18683"	"EIF4A3"	"OMIM:268305"	"Robin sequence with cleft mandible and limb anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-16 13:34:41"	""	""	""	"PMID: 28106320"	"3447"	"2021-03-02"
"GENCC_000101-HGNC_26158-OMIM_615429-HP_0000007-GENCC_100004"	"HGNC:26158"	"ELMOD3"	"MONDO:0014182"	"autosomal recessive nonsyndromic hearing loss 88"	"OMIM:615429"	"?Deafness, autosomal recessive 88"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26158"	"ELMOD3"	"OMIM:615429"	"Deafness, autosomal recessive 88"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-26 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78079"	"2023-08-19"
"GENCC_000101-HGNC_3327-OMIM_123700-HP_0000006-GENCC_100002"	"HGNC:3327"	"ELN"	"MONDO:0007411"	"cutis laxa, autosomal dominant 1"	"OMIM:123700"	"Cutis laxa, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3327"	"ELN"	"OMIM:123700"	"Cutis laxa, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:34:42"	""	""	""	"PMID: 28106320"	"6221"	"2021-03-02"
"GENCC_000101-HGNC_3327-OMIM_185500-HP_0000006-GENCC_100001"	"HGNC:3327"	"ELN"	"MONDO:0008504"	"supravalvular aortic stenosis"	"OMIM:185500"	"Supravalvar aortic stenosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3327"	"ELN"	"OMIM:185500"	"Supravalvar aortic stenosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:34:42"	""	""	""	"PMID: 28106320"	"6221"	"2021-03-02"
"GENCC_000101-HGNC_14415-OMIM_133190-HP_0000006-GENCC_100003"	"HGNC:14415"	"ELOVL4"	"MONDO:0007574"	"spinocerebellar ataxia type 34"	"OMIM:133190"	"Spinocerebellar ataxia 34"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14415"	"ELOVL4"	"OMIM:133190"	"Spinocerebellar ataxia 34"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-31 13:34:42"	""	""	""	"PMID: 28106320"	"1457"	"2021-03-02"
"GENCC_000101-HGNC_18248-OMIM_617270-HP_0000007-GENCC_100003"	"HGNC:18248"	"ELP2"	"MONDO:0014996"	"intellectual disability, autosomal recessive 58"	"OMIM:617270"	"Intellectual developmental disorder, autosomal recessive 58"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18248"	"ELP2"	"OMIM:617270"	"Mental retardation, autosomal recessive 58"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:42"	""	""	""	"PMID: 28106320"	"77672"	"2021-03-02"
"GENCC_000101-HGNC_28957-OMIM_616875-HP_0000007-GENCC_100003"	"HGNC:28957"	"EMC1"	"MONDO:0014811"	"cerebellar atrophy, visual impairment, and psychomotor retardation;"	"OMIM:616875"	"Cerebellar atrophy, visual impairment, and psychomotor retardation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28957"	"EMC1"	"OMIM:616875"	"Cerebellar atrophy, visual impairment, and psychomotor retardation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-28 13:34:43"	""	""	""	"PMID: 28106320"	"69217"	"2021-03-02"
"GENCC_000101-HGNC_3331-OMIM_310300-HP_0001417-GENCC_100001"	"HGNC:3331"	"EMD"	"MONDO:0010680"	"X-linked Emery-Dreifuss muscular dystrophy"	"OMIM:310300"	"Emery-Dreifuss muscular dystrophy 1, X-linked"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3331"	"EMD"	"OMIM:310300"	"Emery-Dreifuss muscular dystrophy 1, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:34:44"	""	""	""	"PMID: 28106320"	"6282"	"2021-03-02"
"GENCC_000101-HGNC_16912-OMIM_211180-HP_0000007-GENCC_100003"	"HGNC:16912"	"EMG1"	"MONDO:0008879"	"Bowen-Conradi syndrome"	"OMIM:211180"	"Bowen-Conradi syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16912"	"EMG1"	"OMIM:211180"	"Bowen-Conradi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-25 13:34:44"	""	""	""	"PMID: 28106320"	"82091"	"2021-03-02"
"GENCC_000101-HGNC_3334-OMIM_615861-HP_0000007-GENCC_100004"	"HGNC:3334"	"EMP2"	"MONDO:0014373"	"nephrotic syndrome, type 10"	"OMIM:615861"	"Nephrotic syndrome, type 10"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3334"	"EMP2"	"OMIM:615861"	"Nephrotic syndrome, type 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-11-12 13:34:44"	""	""	""	"PMID: 28106320"	"6289"	"2021-03-02"
"GENCC_000101-HGNC_3363-OMIM_615683-HP_0000007-GENCC_100003"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"OMIM:615683"	"Spastic paraplegia 64, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3363"	"ENTPD1"	"OMIM:615683"	"Spastic paraplegia 64, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"73077"	"2023-08-19"
"GENCC_000101-HGNC_3373-OMIM_613684-HP_0000006-GENCC_100002"	"HGNC:3373"	"EP300"	"MONDO:0013364"	"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"	"OMIM:613684"	"Rubinstein-Taybi syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3373"	"EP300"	"OMIM:613684"	"Rubinstein-Taybi syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-23 13:34:44"	""	""	""	"PMID: 28106320"	"6299"	"2021-03-02"
"GENCC_000101-HGNC_29331-OMIM_242840-HP_0000007-GENCC_100002"	"HGNC:29331"	"EPG5"	"MONDO:0009452"	"Vici syndrome"	"OMIM:242840"	"Vici syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29331"	"EPG5"	"OMIM:242840"	"Vici syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-30 13:34:44"	""	""	""	"PMID: 28106320"	"74460"	"2021-03-02"
"GENCC_000101-HGNC_3395-OMIM_618196-HP_0000006-GENCC_100001"	"HGNC:3395"	"EPHB4"	"MONDO:0020785"	"capillary malformation-arteriovenous malformation 2"	"OMIM:618196"	"Capillary malformation-arteriovenous malformation 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3395"	"EPHB4"	"OMIM:618196"	"Capillary malformation-arteriovenous malformation 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-22 13:34:45"	""	""	""	"PMID: 28106320"	"6272"	"2021-03-02"
"GENCC_000101-HGNC_3395-OMIM_617300-HP_0000006-GENCC_100004"	"HGNC:3395"	"EPHB4"	"MONDO:0015009"	"lymphatic malformation 7"	"OMIM:617300"	"Lymphatic malformation 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3395"	"EPHB4"	"OMIM:617300"	"Lymphatic malformation 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-19 13:34:45"	""	""	""	"PMID: 28106320"	"6272"	"2021-03-02"
"GENCC_000101-HGNC_3420-OMIM_615974-HP_0000007-GENCC_100003"	"HGNC:3420"	"EPS8"	"MONDO:0014428"	"autosomal recessive nonsyndromic hearing loss 102"	"OMIM:615974"	"?Deafness, autosomal recessive 102"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3420"	"EPS8"	"OMIM:615974"	"Deafness, autosomal recessive 102"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:34:45"	""	""	""	"PMID: 28106320"	"6273"	"2021-03-02"
"GENCC_000101-HGNC_3423-OMIM_261500-HP_0000007-GENCC_100008"	"HGNC:3423"	"EPX"	"MONDO:0043364"	"eosinophil peroxidase deficiency"	"OMIM:261500"	"[Eosinophil peroxidase deficiency]"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3423"	"EPX"	"OMIM:261500"	"Eosinophil peroxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-05 13:34:46"	""	""	""	"PMID: 28106320"	"5655"	"2021-03-02"
"GENCC_000101-HGNC_3430-OMIM_211980-HP_0000006-GENCC_100004"	"HGNC:3430"	"ERBB2"	"MONDO:0008903"	"lung cancer"	"OMIM:211980"	"{Lung cancer, resistance to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3430"	"ERBB2"	"OMIM:211980"	"Adenocarcinoma of lung, somatic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:34:46"	""	""	""	"PMID: 28106320"	"6210"	"2021-03-02"
"GENCC_000101-HGNC_3431-OMIM_607598-HP_0000007-GENCC_100002"	"HGNC:3431"	"ERBB3"	"MONDO:0011868"	"lethal congenital contracture syndrome 2"	"OMIM:607598"	"?Lethal congenital contractural syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3431"	"ERBB3"	"OMIM:607598"	"Lethal congenital contractural syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-27 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6694"	"2025-01-17"
"GENCC_000101-HGNC_3433-OMIM_610758-HP_0000007-GENCC_100004"	"HGNC:3433"	"ERCC1"	"MONDO:0012554"	"cerebrooculofacioskeletal syndrome 4"	"OMIM:610758"	"Cerebrooculofacioskeletal syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3433"	"ERCC1"	"OMIM:610758"	"Cerebrooculofacioskeletal syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-09-19 13:34:46"	""	""	""	"PMID: 28106320"	"6214"	"2021-03-02"
"GENCC_000101-HGNC_3436-OMIM_615272-HP_0000007-GENCC_100003"	"HGNC:3436"	"ERCC4"	"MONDO:0014108"	"Fanconi anemia complementation group Q"	"OMIM:615272"	"Fanconi anemia, complementation group Q"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3436"	"ERCC4"	"OMIM:615272"	"Fanconi anemia, complementation group Q"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 13:34:46"	""	""	""	"PMID: 28106320"	"6246"	"2021-03-02"
"GENCC_000101-HGNC_3436-OMIM_610965-HP_0000007-GENCC_100002"	"HGNC:3436"	"ERCC4"	"MONDO:0012590"	"XFE progeroid syndrome"	"OMIM:610965"	"XFE progeroid syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3436"	"ERCC4"	"OMIM:610965"	"XFE progeroid syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2016-12-14 00:00:00"	""	""	""	"PMID: 28106320"	"6246"	"2021-03-02"
"GENCC_000101-HGNC_3437-OMIM_616570-HP_0000007-GENCC_100004"	"HGNC:3437"	"ERCC5"	"MONDO:0014696"	"cerebrooculofacioskeletal syndrome 3"	"OMIM:616570"	"Cerebrooculofacioskeletal syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3437"	"ERCC5"	"OMIM:616570"	"Cerebrooculofacioskeletal syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-31 13:34:47"	""	""	""	"PMID: 28106320"	"6249"	"2021-03-02"
"GENCC_000101-HGNC_3437-OMIM_278780-HP_0000007-GENCC_100001"	"HGNC:3437"	"ERCC5"	"MONDO:0010216"	"xeroderma pigmentosum group G"	"OMIM:278780"	"Xeroderma pigmentosum, group G/Cockayne syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3437"	"ERCC5"	"OMIM:278780"	"Xeroderma pigmentosum, group G/Cockayne syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-31 13:34:47"	""	""	""	"PMID: 28106320"	"6249"	"2021-03-02"
"GENCC_000101-HGNC_3444-OMIM_617180-HP_0000006-GENCC_100003"	"HGNC:3444"	"ERF"	"MONDO:0014956"	"Chitayat syndrome"	"OMIM:617180"	"Chitayat syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3444"	"ERF"	"OMIM:617180"	"Chitayat syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-07-12 19:02:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6244"	"2021-09-28"
"GENCC_000101-HGNC_3444-OMIM_600775-HP_0000006-GENCC_100003"	"HGNC:3444"	"ERF"	"MONDO:0010929"	"craniosynostosis 4"	"OMIM:600775"	"Craniosynostosis 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3444"	"ERF"	"OMIM:600775"	"Craniosynostosis 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-02-21 19:02:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"62448"	"2021-09-28"
"GENCC_000101-HGNC_16947-OMIM_615681-HP_0000007-GENCC_100004"	"HGNC:16947"	"ERLIN1"	"MONDO:0014302"	"hereditary spastic paraplegia 62"	"OMIM:615681"	"Spastic paraplegia 62, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16947"	"ERLIN1"	"OMIM:615681"	"Spastic paraplegia 62"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18816"	"2023-08-19"
"GENCC_000101-HGNC_1356-OMIM_611225-HP_0000007-GENCC_100003"	"HGNC:1356"	"ERLIN2"	"MONDO:0012639"	"hereditary spastic paraplegia 18"	"OMIM:611225"	"Spastic paraplegia 18B, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1356"	"ERLIN2"	"OMIM:611225"	"Spastic paraplegia 18, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-19 13:34:49"	""	""	""	"PMID: 28106320"	"88812"	"2021-03-02"
"GENCC_000101-HGNC_21056-OMIM_615544-HP_0000006-GENCC_100004"	"HGNC:21056"	"ERMARD"	"MONDO:0014240"	"periventricular nodular heterotopia 6"	"OMIM:615544"	"?Periventricular nodular heterotopia 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21056"	"ERMARD"	"OMIM:615544"	"Periventricular nodular heterotopia 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-10-08 13:34:49"	""	""	""	"PMID: 28106320"	"77452"	"2021-03-02"
"GENCC_000101-HGNC_27230-OMIM_268300-HP_0000007-GENCC_100002"	"HGNC:27230"	"ESCO2"	"MONDO:0009997"	"Roberts syndrome"	"OMIM:268300"	"Roberts-SC phocomelia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27230"	"ESCO2"	"OMIM:268300"	"Roberts syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-04-14 13:34:50"	""	""	""	"PMID: 28106320"	"874742"	"2021-03-02"
"GENCC_000101-HGNC_3467-OMIM_615363-HP_0000007-GENCC_100004"	"HGNC:3467"	"ESR1"	"MONDO:0014148"	"estrogen resistance syndrome"	"OMIM:615363"	"Estrogen resistance"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3467"	"ESR1"	"OMIM:615363"	"Estrogen resistance"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:34:50"	""	""	""	"PMID: 28106320"	"6233"	"2021-03-02"
"GENCC_000101-HGNC_3468-OMIM_618187-HP_0000006-GENCC_100004"	"HGNC:3468"	"ESR2"	"MONDO:0032590"	"ovarian dysgenesis 8"	"OMIM:618187"	"?Ovarian dysgenesis 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3468"	"ESR2"	"OMIM:618187"	"Ovarian dysgenesis 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-23 13:34:51"	""	""	""	"PMID: 28106320"	"6822"	"2021-03-02"
"GENCC_000101-HGNC_3495-OMIM_601626-HP_0000005-GENCC_100004"	"HGNC:3495"	"ETV6"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3495"	"ETV6"	"OMIM:601626"	"Leukemia, acute myeloid, somatic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2015-04-08 00:00:00"	""	""	""	"PMID: 28106320"	"6862"	"2021-03-02"
"GENCC_000101-HGNC_3495-OMIM_616216-HP_0000006-GENCC_100001"	"HGNC:3495"	"ETV6"	"MONDO:0014536"	"thrombocytopenia 5"	"OMIM:616216"	"Thrombocytopenia 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3495"	"ETV6"	"OMIM:616216"	"Thrombocytopenia 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-01-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78510"	"2023-08-19"
"GENCC_000101-HGNC_24659-OMIM_619076-HP_0000007-GENCC_100004"	"HGNC:24659"	"EXOC8"	"MONDO:0033662"	"neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"	"OMIM:619076"	"?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24659"	"EXOC8"	"OMIM:619076"	"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14299"	"2023-08-19"
"GENCC_000101-HGNC_3513-OMIM_133701-HP_0000006-GENCC_100001"	"HGNC:3513"	"EXT2"	"MONDO:0007586"	"exostoses, multiple, type 2"	"OMIM:133701"	"Exostoses, multiple, type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3513"	"EXT2"	"OMIM:133701"	"Exostoses, multiple, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-07-21 00:00:00"	""	""	""	"PMID: 28106320"	"6896"	"2021-03-02"
"GENCC_000101-HGNC_3513-OMIM_616682-HP_0000007-GENCC_100004"	"HGNC:3513"	"EXT2"	"MONDO:0014731"	"seizures-scoliosis-macrocephaly syndrome"	"OMIM:616682"	"Seizures, scoliosis, and macrocephaly syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3513"	"EXT2"	"OMIM:616682"	"Seizures, scoliosis, and macrocephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-15 13:34:52"	""	""	""	"PMID: 28106320"	"6896"	"2021-03-02"
"GENCC_000101-HGNC_3528-OMIM_227600-HP_0000007-GENCC_100001"	"HGNC:3528"	"F10"	"MONDO:0009212"	"congenital factor X deficiency"	"OMIM:227600"	"Factor X deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3528"	"F10"	"OMIM:227600"	"Factor X deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-19 13:34:52"	""	""	""	"PMID: 28106320"	"6873"	"2021-03-02"
"GENCC_000101-HGNC_21197-OMIM_612319-HP_0000007-GENCC_100002"	"HGNC:21197"	"FA2H"	"MONDO:0012866"	"hereditary spastic paraplegia 35"	"OMIM:612319"	"Spastic paraplegia 35, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21197"	"FA2H"	"OMIM:612319"	"Spastic paraplegia 35, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-16 13:34:53"	""	""	""	"PMID: 28106320"	"43876"	"2021-03-02"
"GENCC_000101-HGNC_3573-OMIM_613759-HP_0000007-GENCC_100004"	"HGNC:3573"	"FADD"	"MONDO:0013408"	"FADD-related immunodeficiency"	"OMIM:613759"	"Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3573"	"FADD"	"OMIM:613759"	"Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-07-01 13:34:53"	""	""	""	"PMID: 28106320"	"5446"	"2021-03-02"
"GENCC_000101-HGNC_3579-OMIM_276700-HP_0000007-GENCC_100001"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"tyrosinemia type I"	"OMIM:276700"	"Tyrosinemia, type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3579"	"FAH"	"OMIM:276700"	"Tyrosinemia, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:34:53"	""	""	""	"PMID: 28106320"	"6850"	"2021-03-02"
"GENCC_000101-HGNC_24200-OMIM_615704-HP_0000006-GENCC_100003"	"HGNC:24200"	"FAM111B"	"MONDO:0014310"	"hereditary sclerosing poikiloderma with tendon and pulmonary involvement"	"OMIM:615704"	"Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24200"	"FAM111B"	"OMIM:615704"	"Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-09 13:34:54"	""	""	""	"PMID: 28106320"	"940939"	"2021-03-02"
"GENCC_000101-HGNC_29162-OMIM_618763-HP_0000007-GENCC_100004"	"HGNC:29162"	"FAM149B1"	"MONDO:0032902"	"Joubert syndrome 36"	"OMIM:618763"	"Joubert syndrome 36"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29162"	"FAM149B1"	"OMIM:618763"	"Joubert syndrome 36"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-29 13:34:55"	""	""	""	"PMID: 28106320"	"984116"	"2021-03-02"
"GENCC_000101-HGNC_23015-OMIM_204690-HP_0000007-GENCC_100002"	"HGNC:23015"	"FAM20A"	"MONDO:0008771"	"amelogenesis imperfecta type 1G"	"OMIM:204690"	"Amelogenesis imperfecta, type IG (enamel-renal syndrome)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23015"	"FAM20A"	"OMIM:204690"	"Amelogenesis imperfecta, type IG (enamel-renal syndrome)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-01-26 13:34:55"	""	""	""	"PMID: 28106320"	"70474"	"2021-03-02"
"GENCC_000101-HGNC_22140-OMIM_259775-HP_0000007-GENCC_100003"	"HGNC:22140"	"FAM20C"	"MONDO:0009821"	"lethal osteosclerotic bone dysplasia"	"OMIM:259775"	"Raine syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22140"	"FAM20C"	"OMIM:259775"	"Raine syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-22 13:34:55"	""	""	""	"PMID: 28106320"	"71347"	"2021-03-02"
"GENCC_000101-HGNC_18786-OMIM_300261-HP_0001417-GENCC_100003"	"HGNC:18786"	"FAM50A"	"MONDO:0010284"	"Armfield syndrome"	"OMIM:300261"	"Intellectual developmental disorder, X-linked syndromic, Armfield type"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18786"	"FAM50A"	"OMIM:300261"	"Intellectual developmental disorder, X-linked, syndromic, Armfield type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-02 13:34:56"	""	""	""	"PMID: 28106320"	"3892"	"2021-03-02"
"GENCC_000101-HGNC_3582-OMIM_227650-HP_0000007-GENCC_100001"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"OMIM:227650"	"Fanconi anemia, complementation group A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3582"	"FANCA"	"OMIM:227650"	"Fanconi anemia, complementation group A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-31 13:34:56"	""	""	""	"PMID: 28106320"	"6847"	"2021-03-02"
"GENCC_000101-HGNC_23168-OMIM_618086-HP_0000007-GENCC_100002"	"HGNC:23168"	"FANCM"	"MONDO:0054732"	"spermatogenic failure 28"	"OMIM:618086"	"Spermatogenic failure 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23168"	"FANCM"	"OMIM:618086"	"Spermatogenic failure 28"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-12-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11191"	"2023-08-19"
"GENCC_000101-HGNC_26222-OMIM_616154-HP_0000007-GENCC_100003"	"HGNC:26222"	"FAR1"	"MONDO:0014510"	"fatty acyl-CoA reductase 1 deficiency"	"OMIM:616154"	"Peroxisomal fatty acyl-CoA reductase 1 disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26222"	"FAR1"	"OMIM:616154"	"Peroxisomal fatty acyl-CoA reductase 1 disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-22 13:34:57"	""	""	""	"PMID: 28106320"	"50855"	"2021-03-02"
"GENCC_000101-HGNC_11920-OMIM_601859-HP_0000006-GENCC_100001"	"HGNC:11920"	"FAS"	"MONDO:0011158"	"autoimmune lymphoproliferative syndrome type 1"	"OMIM:601859"	"{Autoimmune lymphoproliferative syndrome}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11920"	"FAS"	"OMIM:601859"	"Autoimmune lymphoproliferative syndrome, type IA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-08-28 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42838"	"2024-01-02"
"GENCC_000101-HGNC_3602-OMIM_219100-HP_0032113-GENCC_100003"	"HGNC:3602"	"FBLN5"	"MONDO:0009052"	"cutis laxa, autosomal recessive, type 1A"	"OMIM:219100"	"Cutis laxa, autosomal recessive, type IA"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3602"	"FBLN5"	"OMIM:219100"	"Cutis laxa, autosomal recessive, type IA"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-26 13:34:58"	""	""	""	"PMID: 28106320"	"82781"	"2021-03-02"
"GENCC_000101-HGNC_3602-OMIM_608895-HP_0000006-GENCC_100003"	"HGNC:3602"	"FBLN5"	"MONDO:0012145"	"macular degeneration, age-related, 3"	"OMIM:608895"	"Macular degeneration, age-related, 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3602"	"FBLN5"	"OMIM:608895"	"Neuropathy, hereditary, with or without age-related macular degeneration"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-26 13:34:58"	""	""	""	"PMID: 28106320"	"82781"	"2021-03-02"
"GENCC_000101-HGNC_3603-OMIM_616914-HP_0000006-GENCC_100003"	"HGNC:3603"	"FBN1"	"MONDO:0014831"	"progeroid and marfanoid aspect-lipodystrophy syndrome"	"OMIM:616914"	"Marfan lipodystrophy syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3603"	"FBN1"	"OMIM:616914"	"Marfan lipodystrophy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-29 13:34:58"	""	""	""	"PMID: 28106320"	"6622"	"2021-03-02"
"GENCC_000101-HGNC_3603-OMIM_154700-HP_0000006-GENCC_100001"	"HGNC:3603"	"FBN1"	"MONDO:0007947"	"Marfan syndrome"	"OMIM:154700"	"Marfan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3603"	"FBN1"	"OMIM:154700"	"Marfan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	""	""	""	"PMID: 28106320"	"6622"	"2021-03-02"
"GENCC_000101-HGNC_13599-OMIM_606220-HP_0000007-GENCC_100004"	"HGNC:13599"	"FBXL3"	"MONDO:0011651"	"intellectual disability, short stature, facial anomalies, and joint dislocations"	"OMIM:606220"	"Intellectual developmental disorder with short stature, facial anomalies, and speech defects"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13599"	"FBXL3"	"OMIM:606220"	"Intellectual developmental disorder with short stature, facial anomalies, and speech defects"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-12-13 13:34:59"	""	""	""	"PMID: 28106320"	"61660"	"2021-03-02"
"GENCC_000101-HGNC_3629-OMIM_618156-HP_0000007-GENCC_100004"	"HGNC:3629"	"FDFT1"	"MONDO:0032566"	"squalene synthase deficiency"	"OMIM:618156"	"Squalene synthase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3629"	"FDFT1"	"OMIM:618156"	"Squalene synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-09 13:34:59"	""	""	""	"PMID: 28106320"	"6666"	"2021-03-02"
"GENCC_000101-HGNC_30546-OMIM_251900-HP_0000007-GENCC_100003"	"HGNC:30546"	"FDX2"	"MONDO:0020714"	"mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	"OMIM:251900"	"Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30546"	"FDX2"	"OMIM:251900"	"Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-30 13:35:00"	""	""	""	"PMID: 28106320"	"886586"	"2021-03-02"
"GENCC_000101-HGNC_15889-OMIM_173650-HP_0000007-GENCC_100001"	"HGNC:15889"	"FERMT1"	"MONDO:0008260"	"Kindler syndrome"	"OMIM:173650"	"Kindler syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15889"	"FERMT1"	"OMIM:173650"	"Kindler syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-13 13:35:00"	""	""	""	"PMID: 28106320"	"77186"	"2021-03-02"
"GENCC_000101-HGNC_22788-OMIM_616030-HP_0000007-GENCC_100003"	"HGNC:22788"	"FEZF1"	"MONDO:0014461"	"hypogonadotropic hypogonadism 22 with or without anosmia"	"OMIM:616030"	"Hypogonadotropic hypogonadism 22, with or without anosmia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22788"	"FEZF1"	"OMIM:616030"	"Hypogonadotropic hypogonadism 22, with or without anosmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:00"	""	""	""	"PMID: 28106320"	"953703"	"2021-03-02"
"GENCC_000101-HGNC_3671-OMIM_609307-HP_0000006-GENCC_100003"	"HGNC:3671"	"FGF14"	"MONDO:0012247"	"spinocerebellar ataxia type 27"	"OMIM:609307"	"OMIM:609307"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3671"	"FGF14"	"OMIM:609307"	"Spinocerebellar ataxia 27"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-30 13:35:01"	""	""	""	"PMID: 28106320"	"6673"	"2021-03-02"
"GENCC_000101-HGNC_3680-OMIM_617993-HP_0000007-GENCC_100003"	"HGNC:3680"	"FGF23"	"MONDO:0060714"	"tumoral calcinosis, hyperphosphatemic, familial, 2"	"OMIM:617993"	"Tumoral calcinosis, hyperphosphatemic, familial, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3680"	"FGF23"	"OMIM:617993"	"Tumoral calcinosis, hyperphosphatemic, familial, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:01"	""	""	""	"PMID: 28106320"	"5240"	"2021-03-02"
"GENCC_000101-HGNC_3680-OMIM_193100-HP_0000006-GENCC_100003"	"HGNC:3680"	"FGF23"	"MONDO:0008660"	"autosomal dominant hypophosphatemic rickets"	"OMIM:193100"	"Hypophosphatemic rickets, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3680"	"FGF23"	"OMIM:193100"	"Hypophosphatemic rickets, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:01"	""	""	""	"PMID: 28106320"	"5240"	"2021-03-02"
"GENCC_000101-HGNC_3686-OMIM_612702-HP_0000006-GENCC_100002"	"HGNC:3686"	"FGF8"	"MONDO:0012988"	"hypogonadotropic hypogonadism 6 with or without anosmia"	"OMIM:612702"	"Hypogonadotropic hypogonadism 6 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3686"	"FGF8"	"OMIM:612702"	"Hypogonadotropic hypogonadism 6 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-10-13 00:00:00"	""	""	""	"PMID: 28106320"	"6679"	"2021-03-02"
"GENCC_000101-HGNC_3688-OMIM_615465-HP_0000006-GENCC_100003"	"HGNC:3688"	"FGFR1"	"MONDO:0014196"	"Hartsfield-Bixler-Demyer syndrome"	"OMIM:615465"	"Hartsfield syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3688"	"FGFR1"	"OMIM:615465"	"Hartsfield syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-08-15 00:00:00"	""	""	""	"PMID: 28106320"	"6612"	"2021-03-02"
"GENCC_000101-HGNC_3688-OMIM_147950-HP_0000006-GENCC_100001"	"HGNC:3688"	"FGFR1"	"MONDO:0007844"	"hypogonadotropic hypogonadism 2 with or without anosmia"	"OMIM:147950"	"Hypogonadotropic hypogonadism 2 with or without anosmia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3688"	"FGFR1"	"OMIM:147950"	"Hypogonadotropic hypogonadism 2 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-08-15 00:00:00"	""	""	""	"PMID: 28106320"	"6612"	"2021-03-02"
"GENCC_000101-HGNC_3688-OMIM_166250-HP_0000006-GENCC_100003"	"HGNC:3688"	"FGFR1"	"MONDO:0008150"	"osteoglophonic dwarfism"	"OMIM:166250"	"Osteoglophonic dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3688"	"FGFR1"	"OMIM:166250"	"Osteoglophonic dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-10-16 13:35:02"	""	""	""	"PMID: 28106320"	"6612"	"2021-03-02"
"GENCC_000101-HGNC_3689-OMIM_101600-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0007043"	"Pfeiffer syndrome"	"OMIM:101600"	"Pfeiffer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3689"	"FGFR2"	"OMIM:101600"	"Pfeiffer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:35:02"	""	""	""	"PMID: 28106320"	"6619"	"2021-03-02"
"GENCC_000101-HGNC_3689-OMIM_123500-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0007405"	"Crouzon syndrome"	"OMIM:123500"	"Crouzon syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3689"	"FGFR2"	"OMIM:123500"	"Crouzon syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:35:02"	""	""	""	"PMID: 28106320"	"6619"	"2021-03-02"
"GENCC_000101-HGNC_3689-OMIM_614592-HP_0000006-GENCC_100003"	"HGNC:3689"	"FGFR2"	"MONDO:0013815"	"bent bone dysplasia syndrome 1"	"OMIM:614592"	"Bent bone dysplasia syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3689"	"FGFR2"	"OMIM:614592"	"Bent bone dysplasia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:35:03"	""	""	""	"PMID: 28106320"	"6619"	"2021-03-02"
"GENCC_000101-HGNC_16873-OMIM_611228-HP_0000007-GENCC_100001"	"HGNC:16873"	"FIG4"	"MONDO:0012640"	"Charcot-Marie-Tooth disease type 4J"	"OMIM:611228"	"Charcot-Marie-Tooth disease, type 4J"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16873"	"FIG4"	"OMIM:611228"	"Charcot-Marie-Tooth disease, type 4J"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-10-30 13:35:03"	""	""	""	"PMID: 28106320"	"3531"	"2021-03-02"
"GENCC_000101-HGNC_18625-OMIM_614557-HP_0000007-GENCC_100003"	"HGNC:18625"	"FKBP14"	"MONDO:0013800"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"OMIM:614557"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18625"	"FKBP14"	"OMIM:614557"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 13:35:03"	""	""	""	"PMID: 28106320"	"77299"	"2021-03-02"
"GENCC_000101-HGNC_17997-OMIM_607155-HP_0000007-GENCC_100002"	"HGNC:17997"	"FKRP"	"MONDO:0011787"	"autosomal recessive limb-girdle muscular dystrophy type 2I"	"OMIM:607155"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17997"	"FKRP"	"OMIM:607155"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-05 13:35:04"	""	""	""	"PMID: 28106320"	"43804"	"2021-03-02"
"GENCC_000101-HGNC_17997-OMIM_613153-HP_0000007-GENCC_100003"	"HGNC:17997"	"FKRP"	"MONDO:0013157"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5"	"OMIM:613153"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17997"	"FKRP"	"OMIM:613153"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-05 13:35:04"	""	""	""	"PMID: 28106320"	"43804"	"2021-03-02"
"GENCC_000101-HGNC_3622-OMIM_611615-HP_0000007-GENCC_100004"	"HGNC:3622"	"FKTN"	"MONDO:0012704"	"dilated cardiomyopathy 1X"	"OMIM:611615"	"Cardiomyopathy, dilated, 1X"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3622"	"FKTN"	"OMIM:611615"	"Cardiomyopathy, dilated, 1X"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-20 13:35:04"	""	""	""	"PMID: 28106320"	"6685"	"2021-03-02"
"GENCC_000101-HGNC_27310-OMIM_173600-HP_0000006-GENCC_100003"	"HGNC:27310"	"FLCN"	"MONDO:0008259"	"familial spontaneous pneumothorax"	"OMIM:173600"	"Pneumothorax, primary spontaneous"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27310"	"FLCN"	"OMIM:173600"	"Pneumothorax, primary spontaneous"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-24 13:35:05"	""	""	""	"PMID: 28106320"	"628819"	"2021-03-02"
"GENCC_000101-HGNC_27310-OMIM_135150-HP_0000006-GENCC_100001"	"HGNC:27310"	"FLCN"	"MONDO:0800445"	"Birt-Hogg-Dube syndrome 1"	"OMIM:135150"	"Birt-Hogg-Dube syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27310"	"FLCN"	"OMIM:135150"	"Birt-Hogg-Dube syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-12-01 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67481"	"2025-01-17"
"GENCC_000101-HGNC_33276-OMIM_618084-HP_0000007-GENCC_100004"	"HGNC:33276"	"FLG2"	"MONDO:0054852"	"peeling skin syndrome 6"	"OMIM:618084"	"Peeling skin syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:33276"	"FLG2"	"OMIM:618084"	"Peeling skin syndrome 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-24 13:35:05"	""	""	""	"PMID: 28106320"	"955135"	"2021-03-02"
"GENCC_000101-HGNC_3754-OMIM_314400-HP_0001417-GENCC_100003"	"HGNC:3754"	"FLNA"	"MONDO:0010753"	"cardiac valvular dysplasia, X-linked"	"OMIM:314400"	"Cardiac valvular dysplasia, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3754"	"FLNA"	"OMIM:314400"	"Cardiac valvular dysplasia, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-04-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"6749"	"2023-08-19"
"GENCC_000101-HGNC_3754-OMIM_300049-HP_0001417-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0010233"	"heterotopia, periventricular, X-linked dominant"	"OMIM:300049"	"Heterotopia, periventricular, 1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3754"	"FLNA"	"OMIM:300049"	"Heterotopia, periventricular, 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2021-01-13 00:00:00"	""	""	""	"PMID: 28106320"	"6981"	"2021-03-02"
"GENCC_000101-HGNC_3762-OMIM_615271-HP_0000006-GENCC_100004"	"HGNC:3762"	"FLRT3"	"MONDO:0014107"	"hypogonadotropic hypogonadism 21 with or without anosmia"	"OMIM:615271"	"Hypogonadotropic hypogonadism 21 with anosmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3762"	"FLRT3"	"OMIM:615271"	"Hypogonadotropic hypogonadism 21 with anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-22 13:35:06"	""	""	""	"PMID: 28106320"	"69414"	"2021-03-02"
"GENCC_000101-HGNC_20105-OMIM_225790-HP_0000007-GENCC_100003"	"HGNC:20105"	"FLVCR2"	"MONDO:0009168"	"Fowler syndrome"	"OMIM:225790"	"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20105"	"FLVCR2"	"OMIM:225790"	"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-05 13:35:06"	""	""	""	"PMID: 28106320"	"77102"	"2021-03-02"
"GENCC_000101-HGNC_3775-OMIM_311360-HP_0001417-GENCC_100002"	"HGNC:3775"	"FMR1"	"MONDO:0010706"	"premature ovarian failure 1"	"OMIM:311360"	"Premature ovarian failure 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3775"	"FMR1"	"OMIM:311360"	"Premature ovarian failure 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-03 13:35:06"	""	""	""	"PMID: 28106320"	"6996"	"2021-03-02"
"GENCC_000101-HGNC_3775-OMIM_300624-HP_0001417-GENCC_100001"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"fragile X syndrome"	"OMIM:300624"	"Fragile X syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3775"	"FMR1"	"OMIM:300624"	"Fragile X syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-12-04 00:00:00"	""	""	""	"PMID: 28106320"	"6996"	"2021-03-02"
"GENCC_000101-HGNC_3775-OMIM_300623-HP_0001417-GENCC_100002"	"HGNC:3775"	"FMR1"	"MONDO:0010382"	"fragile X-associated tremor/ataxia syndrome"	"OMIM:300623"	"Fragile X tremor/ataxia syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3775"	"FMR1"	"OMIM:300623"	"Fragile X tremor/ataxia syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-03 13:35:06"	""	""	""	"PMID: 28106320"	"6996"	"2021-03-02"
"GENCC_000101-HGNC_3806-OMIM_241850-HP_0000007-GENCC_100003"	"HGNC:3806"	"FOXE1"	"MONDO:0009437"	"Bamforth-Lazarus syndrome"	"OMIM:241850"	"Bamforth-Lazarus syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3806"	"FOXE1"	"OMIM:241850"	"Bamforth-Lazarus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-18 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63569"	"2024-01-02"
"GENCC_000101-HGNC_3811-OMIM_613454-HP_0000006-GENCC_100001"	"HGNC:3811"	"FOXG1"	"MONDO:0013270"	"Rett syndrome, congenital variant"	"OMIM:613454"	"Rett syndrome, congenital variant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3811"	"FOXG1"	"OMIM:613454"	"Rett syndrome, congenital variant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-15 13:35:07"	""	""	""	"PMID: 28106320"	"6632"	"2021-03-02"
"GENCC_000101-HGNC_3816-OMIM_618699-HP_0000006-GENCC_100003"	"HGNC:3816"	"FOXJ1"	"MONDO:0032874"	"ciliary dyskinesia, primary, 43"	"OMIM:618699"	"Ciliary dyskinesia, primary, 43"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3816"	"FOXJ1"	"OMIM:618699"	"Ciliary dyskinesia, primary, 43"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-11-13 13:35:07"	""	""	""	"PMID: 28106320"	"6926"	"2021-03-02"
"GENCC_000101-HGNC_23399-OMIM_614485-HP_0000006-GENCC_100004"	"HGNC:23399"	"FREM1"	"MONDO:0013774"	"trigonocephaly 2"	"OMIM:614485"	"Trigonocephaly 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23399"	"FREM1"	"OMIM:614485"	"Trigonocephaly 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-03 13:35:07"	""	""	""	"PMID: 28106320"	"875961"	"2021-03-02"
"GENCC_000101-HGNC_23399-OMIM_248450-HP_0000007-GENCC_100003"	"HGNC:23399"	"FREM1"	"MONDO:0009560"	"oculotrichoanal syndrome"	"OMIM:248450"	"Manitoba oculotrichoanal syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23399"	"FREM1"	"OMIM:248450"	"Manitoba oculotrichoanal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-18 13:35:07"	""	""	""	"PMID: 28106320"	"875961"	"2021-03-02"
"GENCC_000101-HGNC_25396-OMIM_617666-HP_0000007-GENCC_100003"	"HGNC:25396"	"FREM2"	"MONDO:0054738"	"Fraser syndrome 2"	"OMIM:617666"	"Fraser syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25396"	"FREM2"	"OMIM:617666"	"Fraser syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-22 13:35:08"	""	""	""	"PMID: 28106320"	"908102"	"2021-03-02"
"GENCC_000101-HGNC_25491-OMIM_616819-HP_0000007-GENCC_100004"	"HGNC:25491"	"FRMD4A"	"MONDO:0014787"	"severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"	"OMIM:616819"	"?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25491"	"FRMD4A"	"OMIM:616819"	"Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"76618"	"2023-08-19"
"GENCC_000101-HGNC_29007-OMIM_300983-HP_0001417-GENCC_100002"	"HGNC:29007"	"FRMPD4"	"MONDO:0010509"	"intellectual disability, X-linked 104"	"OMIM:300983"	"Intellectual developmental disorder, X-linked 104"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29007"	"FRMPD4"	"OMIM:300983"	"Mental retardation, X-linked 104"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-05 13:35:08"	""	""	""	"PMID: 28106320"	"3475"	"2021-03-02"
"GENCC_000101-HGNC_1362-OMIM_616981-HP_0000007-GENCC_100003"	"HGNC:1362"	"FRRS1L"	"MONDO:0014859"	"developmental and epileptic encephalopathy, 37"	"OMIM:616981"	"Developmental and epileptic encephalopathy 37"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1362"	"FRRS1L"	"OMIM:616981"	"Developmental and epileptic encephalopathy 37"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:35:08"	""	""	""	"PMID: 28106320"	"69496"	"2021-03-02"
"GENCC_000101-HGNC_3974-OMIM_229100-HP_0000007-GENCC_100003"	"HGNC:3974"	"FTCD"	"MONDO:0009240"	"formiminoglutamic aciduria"	"OMIM:229100"	"Glutamate formiminotransferase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3974"	"FTCD"	"OMIM:229100"	"Glutamate formiminotransferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-23 13:35:09"	""	""	""	"PMID: 28106320"	"82508"	"2021-03-02"
"GENCC_000101-HGNC_3999-OMIM_606159-HP_0000006-GENCC_100003"	"HGNC:3999"	"FTL"	"MONDO:0011638"	"neuroferritinopathy"	"OMIM:606159"	"Neurodegeneration with brain iron accumulation 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3999"	"FTL"	"OMIM:606159"	"Neurodegeneration with brain iron accumulation 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-16 13:35:09"	""	""	""	"PMID: 28106320"	"6786"	"2021-03-02"
"GENCC_000101-HGNC_3999-OMIM_600886-HP_0000006-GENCC_100003"	"HGNC:3999"	"FTL"	"MONDO:0010952"	"hereditary hyperferritinemia with congenital cataracts"	"OMIM:600886"	"Hyperferritinemia-cataract syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3999"	"FTL"	"OMIM:600886"	"Hyperferritinemia-cataract syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-16 13:35:09"	""	""	""	"PMID: 28106320"	"6786"	"2021-03-02"
"GENCC_000101-HGNC_4017-OMIM_613852-HP_0000007-GENCC_100008"	"HGNC:4017"	"FUT6"	"MONDO:0013462"	"fucosyltransferase 6 deficiency"	"OMIM:613852"	"[Fucosyltransferase 6 deficiency]"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4017"	"FUT6"	"OMIM:613852"	"Fucosyltransferase 6 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-04-04 13:35:09"	""	""	""	"PMID: 28106320"	"6765"	"2021-03-02"
"GENCC_000101-HGNC_4019-OMIM_618005-HP_0000007-GENCC_100003"	"HGNC:4019"	"FUT8"	"MONDO:0020775"	"congenital disorder of glycosylation with defective fucosylation 1"	"OMIM:618005"	"Congenital disorder of glycosylation with defective fucosylation 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4019"	"FUT8"	"OMIM:618005"	"Congenital disorder of glycosylation with defective fucosylation 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-14 13:35:10"	""	""	""	"PMID: 28106320"	"6792"	"2021-03-02"
"GENCC_000101-HGNC_4040-OMIM_164745-HP_0000006-GENCC_100004"	"HGNC:4040"	"FZD2"	"MONDO:0008123"	"autosomal dominant omodysplasia"	"OMIM:164745"	"Omodysplasia 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4040"	"FZD2"	"OMIM:164745"	"Omodysplasia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-21 13:35:10"	""	""	""	"PMID: 28106320"	"6797"	"2021-03-02"
"GENCC_000101-HGNC_4057-OMIM_300908-HP_0001417-GENCC_100001"	"HGNC:4057"	"G6PD"	"MONDO:0010480"	"anemia, nonspherocytic hemolytic, due to G6PD deficiency"	"OMIM:300908"	"Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4057"	"G6PD"	"OMIM:300908"	"Hemolytic anemia, G6PD deficient (favism)"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-04 13:35:11"	""	""	""	"PMID: 28106320"	"6793"	"2021-03-02"
"GENCC_000101-HGNC_4507-OMIM_617904-HP_0000006-GENCC_100003"	"HGNC:4507"	"GABBR2"	"MONDO:0033368"	"developmental and epileptic encephalopathy, 59"	"OMIM:617904"	"Developmental and epileptic encephalopathy 59"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4507"	"GABBR2"	"OMIM:617904"	"Developmental and epileptic encephalopathy 59"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-06 13:35:11"	""	""	""	"PMID: 28106320"	"3715"	"2021-03-02"
"GENCC_000101-HGNC_4079-OMIM_618559-HP_0000006-GENCC_100003"	"HGNC:4079"	"GABRA5"	"MONDO:0032813"	"developmental and epileptic encephalopathy, 79"	"OMIM:618559"	"Developmental and epileptic encephalopathy 79"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4079"	"GABRA5"	"OMIM:618559"	"Developmental and epileptic encephalopathy 79"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14716"	"2023-08-19"
"GENCC_000101-HGNC_24063-OMIM_618881-HP_0000007-GENCC_100003"	"HGNC:24063"	"GALM"	"MONDO:0030105"	"galactosemia 4"	"OMIM:618881"	"Galactosemia IV"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24063"	"GALM"	"OMIM:618881"	"Galactosemia IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-12-13 13:35:11"	""	""	""	"PMID: 28106320"	"892753"	"2021-03-02"
"GENCC_000101-HGNC_19877-OMIM_608812-HP_0000006-GENCC_100004"	"HGNC:19877"	"GALNT12"	"MONDO:0012132"	"colorectal cancer, susceptibility to, 1"	"OMIM:608812"	"{Colorectal cancer, susceptibility to, 1}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19877"	"GALNT12"	"OMIM:608812"	"Colorectal cancer, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61879"	"2023-08-19"
"GENCC_000101-HGNC_4136-OMIM_612736-HP_0000007-GENCC_100001"	"HGNC:4136"	"GAMT"	"MONDO:0012999"	"guanidinoacetate methyltransferase deficiency"	"OMIM:612736"	"Cerebral creatine deficiency syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4136"	"GAMT"	"OMIM:612736"	"Cerebral creatine deficiency syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:35:12"	""	""	""	"PMID: 28106320"	"6739"	"2021-03-02"
"GENCC_000101-HGNC_24846-OMIM_618449-HP_0000007-GENCC_100004"	"HGNC:24846"	"GAS2L2"	"MONDO:0032757"	"ciliary dyskinesia, primary, 41"	"OMIM:618449"	"?Ciliary dyskinesia, primary, 41"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24846"	"GAS2L2"	"OMIM:618449"	"Ciliary dyskinesia, primary, 41"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-21 13:35:13"	""	""	""	"PMID: 28106320"	"601841"	"2021-03-02"
"GENCC_000101-HGNC_4166-OMIM_616726-HP_0000007-GENCC_100003"	"HGNC:4166"	"GAS8"	"MONDO:0014750"	"primary ciliary dyskinesia 33"	"OMIM:616726"	"Ciliary dyskinesia, primary, 33"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4166"	"GAS8"	"OMIM:616726"	"Ciliary dyskinesia, primary, 33"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-29 13:35:13"	""	""	""	"PMID: 28106320"	"6166"	"2021-03-02"
"GENCC_000101-HGNC_4170-OMIM_314050-HP_0001417-GENCC_100003"	"HGNC:4170"	"GATA1"	"MONDO:0010745"	"beta-thalassemia-X-linked thrombocytopenia syndrome"	"OMIM:314050"	"Thrombocytopenia with beta-thalassemia, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4170"	"GATA1"	"OMIM:314050"	"Thrombocytopenia with beta-thalassemia, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:14"	""	""	""	"PMID: 28106320"	"6169"	"2021-03-02"
"GENCC_000101-HGNC_4173-OMIM_615542-HP_0000006-GENCC_100001"	"HGNC:4173"	"GATA4"	"MONDO:0014239"	"testicular anomalies with or without congenital heart disease"	"OMIM:615542"	"?Testicular anomalies with or without congenital heart disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4173"	"GATA4"	"OMIM:615542"	"NULL"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-30 13:35:14"	""	""	""	"PMID: 28106320"	"6161"	"2021-03-02"
"GENCC_000101-HGNC_4174-OMIM_187500-HP_0000006-GENCC_100003"	"HGNC:4174"	"GATA6"	"MONDO:0008542"	"tetralogy of fallot"	"OMIM:187500"	"Tetralogy of Fallot"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4174"	"GATA6"	"OMIM:187500"	"Tetralogy of Fallot"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:14"	""	""	""	"PMID: 28106320"	"6164"	"2021-03-02"
"GENCC_000101-HGNC_4174-OMIM_217095-HP_0000007-GENCC_100004"	"HGNC:4174"	"GATA6"	"MONDO:0016581"	"conotruncal heart malformations"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4174"	"GATA6"	"OMIM:217095"	"Persistent truncus arteriosus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:35:14"	""	""	""	"PMID: 28106320"	"6164"	"2021-03-02"
"GENCC_000101-HGNC_4174-OMIM_600001-HP_0000006-GENCC_100002"	"HGNC:4174"	"GATA6"	"MONDO:0010802"	"pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"OMIM:600001"	"Pancreatic agenesis and congenital heart defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4174"	"GATA6"	"OMIM:600001"	"Pancreatic agenesis and congenital heart defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:35:14"	""	""	""	"PMID: 28106320"	"6164"	"2021-03-02"
"GENCC_000101-HGNC_4174-OMIM_614475-HP_0000006-GENCC_100004"	"HGNC:4174"	"GATA6"	"MONDO:0013770"	"atrial septal defect 9"	"OMIM:614475"	"Atrial septal defect 9"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4174"	"GATA6"	"OMIM:614475"	"Atrial septal defect 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:35:14"	""	""	""	"PMID: 28106320"	"6164"	"2021-03-02"
"GENCC_000101-HGNC_29941-OMIM_614672-HP_0000007-GENCC_100004"	"HGNC:29941"	"GATAD1"	"MONDO:0013848"	"dilated cardiomyopathy 2B"	"OMIM:614672"	"?Cardiomyopathy, dilated, 2B"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29941"	"GATAD1"	"OMIM:614672"	"Cardiomyopathy, dilated, 2B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"6452"	"2023-08-19"
"GENCC_000101-HGNC_4175-OMIM_612718-HP_0000007-GENCC_100003"	"HGNC:4175"	"GATM"	"MONDO:0012996"	"AGAT deficiency"	"OMIM:612718"	"Cerebral creatine deficiency syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4175"	"GATM"	"OMIM:612718"	"Cerebral creatine deficiency syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:35:15"	""	""	""	"PMID: 28106320"	"6165"	"2021-03-02"
"GENCC_000101-HGNC_4175-OMIM_134600-HP_0000006-GENCC_100003"	"HGNC:4175"	"GATM"	"MONDO:0024525"	"Fanconi renotubular syndrome 1"	"OMIM:134600"	"Fanconi renotubular syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4175"	"GATM"	"OMIM:134600"	"Fanconi renotubular syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:35:15"	""	""	""	"PMID: 28106320"	"6165"	"2021-03-02"
"GENCC_000101-HGNC_4193-OMIM_128230-HP_0000006-GENCC_100001"	"HGNC:4193"	"GCH1"	"MONDO:0007495"	"dystonia 5"	"OMIM:128230"	"Dystonia, DOPA-responsive"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4193"	"GCH1"	"OMIM:128230"	"Dystonia, DOPA-responsive, with or without hyperphenylalaninemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-22 13:35:15"	""	""	""	"PMID: 28106320"	"6109"	"2021-03-02"
"GENCC_000101-HGNC_4195-OMIM_125851-HP_0000006-GENCC_100001"	"HGNC:4195"	"GCK"	"MONDO:0007453"	"maturity-onset diabetes of the young type 2"	"OMIM:125851"	"MODY, type II"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4195"	"GCK"	"OMIM:125851"	"MODY, type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-30 13:35:15"	""	""	""	"PMID: 28106320"	"6107"	"2021-03-02"
"GENCC_000101-HGNC_4208-OMIM_605899-HP_0000007-GENCC_100004"	"HGNC:4208"	"GCSH"	"MONDO:0011612"	"glycine encephalopathy"	"OMIM:605899"	"Glycine encephalopathy1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4208"	"GCSH"	"OMIM:605899"	"Glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-22 13:35:15"	""	""	""	"PMID: 28106320"	"6179"	"2021-03-02"
"GENCC_000101-HGNC_18010-OMIM_618369-HP_0000007-GENCC_100004"	"HGNC:18010"	"GDAP2"	"MONDO:0032706"	"spinocerebellar ataxia, autosomal recessive 27"	"OMIM:618369"	"Spinocerebellar ataxia, autosomal recessive 27"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18010"	"GDAP2"	"OMIM:618369"	"Spinocerebellar ataxia, autosomal recessive 27"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-09-06 13:35:16"	""	""	""	"PMID: 28106320"	"70590"	"2021-03-02"
"GENCC_000101-HGNC_4214-OMIM_613854-HP_0000006-GENCC_100004"	"HGNC:4214"	"GDF1"	"MONDO:0013463"	"congenital heart defects, multiple types, 6"	"OMIM:613854"	"Congenital heart defects, multiple types, 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4214"	"GDF1"	"OMIM:613854"	"Congenital heart defects, multiple types, 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-07 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6590"	"2024-01-02"
"GENCC_000101-HGNC_4214-OMIM_208530-HP_0000007-GENCC_100004"	"HGNC:4214"	"GDF1"	"MONDO:0008832"	"right atrial isomerism"	"OMIM:208530"	"Right atrial isomerism (Ivemark)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4214"	"GDF1"	"OMIM:208530"	"Right atrial isomerism (Ivemark)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-07 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6597"	"2024-01-02"
"GENCC_000101-HGNC_4217-OMIM_615506-HP_0000006-GENCC_100003"	"HGNC:4217"	"GDF2"	"MONDO:0014217"	"telangiectasia, hereditary hemorrhagic, type 5"	"OMIM:615506"	"Telangiectasia, hereditary hemorrhagic, type 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4217"	"GDF2"	"OMIM:615506"	"Telangiectasia, hereditary hemorrhagic, type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78441"	"2023-08-19"
"GENCC_000101-HGNC_4220-OMIM_113100-HP_0032113-GENCC_100001"	"HGNC:4220"	"GDF5"	"MONDO:0007221"	"brachydactyly type C"	"OMIM:113100"	"Brachydactyly, type C"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4220"	"GDF5"	"OMIM:113100"	"Brachydactyly, type C"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-26 13:35:18"	""	""	""	"PMID: 28106320"	"5622"	"2021-03-02"
"GENCC_000101-HGNC_4220-OMIM_200700-HP_0000007-GENCC_100003"	"HGNC:4220"	"GDF5"	"MONDO:0008703"	"acromesomelic dysplasia 2A"	"OMIM:200700"	"Acromesomelic dysplasia 2A"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4220"	"GDF5"	"OMIM:200700"	"Chondrodysplasia, Grebe type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-26 13:35:18"	""	""	""	"PMID: 28106320"	"5622"	"2021-03-02"
"GENCC_000101-HGNC_4224-OMIM_618014-HP_0000006-GENCC_100004"	"HGNC:4224"	"GDF9"	"MONDO:0044777"	"premature ovarian failure 14"	"OMIM:618014"	"Premature ovarian failure 14"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4224"	"GDF9"	"OMIM:618014"	"Premature ovarian failure 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-26 13:35:18"	""	""	""	"PMID: 28106320"	"6118"	"2021-03-02"
"GENCC_000101-HGNC_15717-OMIM_617913-HP_0000007-GENCC_100004"	"HGNC:15717"	"GEMIN4"	"MONDO:0060664"	"neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"	"OMIM:617913"	"Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15717"	"GEMIN4"	"OMIM:617913"	"Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"77948"	"2023-08-19"
"GENCC_000101-HGNC_4250-OMIM_231950-HP_0000007-GENCC_100004"	"HGNC:4250"	"GGT1"	"MONDO:0009285"	"gamma-glutamyl transpeptidase deficiency"	"OMIM:231950"	"?Glutathioninuria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4250"	"GGT1"	"OMIM:231950"	"Glutathioninuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-30 13:35:19"	""	""	""	"PMID: 28106320"	"6145"	"2021-03-02"
"GENCC_000101-HGNC_18183-OMIM_601869-HP_0000007-GENCC_100003"	"HGNC:18183"	"GIPC3"	"MONDO:0011160"	"autosomal recessive nonsyndromic hearing loss 15"	"OMIM:601869"	"Deafness, autosomal recessive 15"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18183"	"GIPC3"	"OMIM:601869"	"Deafness, autosomal recessive 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-12 13:35:19"	""	""	""	"PMID: 28106320"	"861961"	"2021-03-02"
"GENCC_000101-HGNC_4274-OMIM_164200-HP_0032113-GENCC_100001"	"HGNC:4274"	"GJA1"	"MONDO:0008111"	"oculodentodigital dysplasia"	"OMIM:164200"	"Oculodentodigital dysplasia"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4274"	"GJA1"	"OMIM:164200"	"Oculodentodigital dysplasia"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-04-02 13:35:19"	""	""	""	"PMID: 28106320"	"6134"	"2021-03-02"
"GENCC_000101-HGNC_4274-OMIM_186100-HP_0000006-GENCC_100004"	"HGNC:4274"	"GJA1"	"MONDO:0008514"	"syndactyly type 3"	"OMIM:186100"	"Syndactyly, type III"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4274"	"GJA1"	"OMIM:186100"	"Syndactyly, type III"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-02 13:35:19"	""	""	""	"PMID: 28106320"	"6134"	"2021-03-02"
"GENCC_000101-HGNC_4274-OMIM_104100-HP_0000006-GENCC_100004"	"HGNC:4274"	"GJA1"	"MONDO:0007083"	"autosomal dominant palmoplantar keratoderma and congenital alopecia"	"OMIM:104100"	"Palmoplantar keratoderma with congenital alopecia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4274"	"GJA1"	"OMIM:104100"	"Palmoplantar keratoderma with congenital alopecia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-02 13:35:19"	""	""	""	"PMID: 28106320"	"6134"	"2021-03-02"
"GENCC_000101-HGNC_4274-OMIM_218400-HP_0000007-GENCC_100004"	"HGNC:4274"	"GJA1"	"MONDO:0009035"	"craniometaphyseal dysplasia, autosomal recessive"	"OMIM:218400"	"Craniometaphyseal dysplasia, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4274"	"GJA1"	"OMIM:218400"	"Craniometaphyseal dysplasia, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-02 13:35:20"	""	""	""	"PMID: 28106320"	"6134"	"2021-03-02"
"GENCC_000101-HGNC_4274-OMIM_617525-HP_0000006-GENCC_100004"	"HGNC:4274"	"GJA1"	"MONDO:0033013"	"erythrokeratodermia variabilis et progressiva 3"	"OMIM:617525"	"Erythrokeratodermia variabilis et progressiva 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4274"	"GJA1"	"OMIM:617525"	"Erythrokeratodermia variabilis et progressiva 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-02 13:35:20"	""	""	""	"PMID: 28106320"	"6134"	"2021-03-02"
"GENCC_000101-HGNC_4288-OMIM_129500-HP_0000006-GENCC_100003"	"HGNC:4288"	"GJB6"	"MONDO:0007510"	"Clouston syndrome"	"OMIM:129500"	"Ectodermal dysplasia 2, Clouston type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4288"	"GJB6"	"OMIM:129500"	"Ectodermal dysplasia 2, Clouston type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:20"	""	""	""	"PMID: 28106320"	"82520"	"2021-03-02"
"GENCC_000101-HGNC_4288-OMIM_612643-HP_0000006-GENCC_100004"	"HGNC:4288"	"GJB6"	"MONDO:0012975"	"autosomal dominant nonsyndromic hearing loss 3B"	"OMIM:612643"	"Deafness, autosomal dominant 3B"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4288"	"GJB6"	"OMIM:612643"	"Deafness, autosomal dominant 3B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-19 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64220"	"2025-01-17"
"GENCC_000101-HGNC_4288-OMIM_612645-HP_0000007-GENCC_100004"	"HGNC:4288"	"GJB6"	"MONDO:0012977"	"autosomal recessive nonsyndromic hearing loss 1B"	"OMIM:612645"	"Deafness, autosomal recessive 1B"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4288"	"GJB6"	"OMIM:612645"	"Deafness, autosomal recessive 1B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-19 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64227"	"2025-01-17"
"GENCC_000101-HGNC_4289-OMIM_307030-HP_0000007-GENCC_100001"	"HGNC:4289"	"GK"	"MONDO:0010613"	"inborn glycerol kinase deficiency"	"OMIM:307030"	"Glycerol kinase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4289"	"GK"	"OMIM:307030"	"Glycerol kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-12 13:35:21"	""	""	""	"PMID: 28106320"	"6482"	"2021-03-02"
"GENCC_000101-HGNC_29514-OMIM_617194-HP_0000007-GENCC_100002"	"HGNC:29514"	"GLDN"	"MONDO:0014965"	"lethal congenital contracture syndrome 11"	"OMIM:617194"	"Lethal congenital contracture syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29514"	"GLDN"	"OMIM:617194"	"Lethal congenital contracture syndrome 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-04 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11666"	"2025-01-17"
"GENCC_000101-HGNC_4317-OMIM_174400-HP_0000007-GENCC_100004"	"HGNC:4317"	"GLI1"	"MONDO:0008269"	"polydactyly of a biphalangeal thumb"	"OMIM:174400"	"Polydactyly, preaxial I"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4317"	"GLI1"	"OMIM:174400"	"Polydactyly, preaxial I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-09 13:35:22"	""	""	""	"PMID: 28106320"	"6497"	"2021-03-02"
"GENCC_000101-HGNC_4319-OMIM_146510-HP_0000006-GENCC_100001"	"HGNC:4319"	"GLI3"	"MONDO:0007804"	"Pallister-Hall syndrome"	"OMIM:146510"	"Pallister-Hall syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4319"	"GLI3"	"OMIM:146510"	"Pallister-Hall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-16 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63124"	"2024-01-02"
"GENCC_000101-HGNC_4319-OMIM_175700-HP_0000006-GENCC_100001"	"HGNC:4319"	"GLI3"	"MONDO:0008287"	"Greig cephalopolysyndactyly syndrome"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4319"	"GLI3"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-16 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63182"	"2024-01-02"
"GENCC_000101-HGNC_4319-OMIM_174700-HP_0000006-GENCC_100003"	"HGNC:4319"	"GLI3"	"MONDO:0008272"	"polysyndactyly 4"	"OMIM:174700"	"Polydactyly, preaxial, type IV"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4319"	"GLI3"	"OMIM:174700"	"Polydactyly, preaxial, type IV"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-09-18 00:00:00"	""	""	""	"PMID: 28106320"	"6494"	"2021-03-02"
"GENCC_000101-HGNC_29450-OMIM_611498-HP_0000007-GENCC_100004"	"HGNC:29450"	"GLIS2"	"MONDO:0012680"	"nephronophthisis 7"	"OMIM:611498"	"Nephronophthisis 7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29450"	"GLIS2"	"OMIM:611498"	"Nephronophthisis 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61266"	"2023-08-19"
"GENCC_000101-HGNC_28510-OMIM_610199-HP_0000007-GENCC_100002"	"HGNC:28510"	"GLIS3"	"MONDO:0012436"	"neonatal diabetes mellitus with congenital hypothyroidism"	"OMIM:610199"	"Diabetes mellitus, neonatal, with congenital hypothyroidism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28510"	"GLIS3"	"OMIM:610199"	"Diabetes mellitus, neonatal, with congenital hypothyroidism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-09-22 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67414"	"2024-01-02"
"GENCC_000101-HGNC_22932-OMIM_615350-HP_0000007-GENCC_100002"	"HGNC:22932"	"GMPPB"	"MONDO:0014140"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14"	"OMIM:615350"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22932"	"GMPPB"	"OMIM:615350"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:35:24"	""	""	""	"PMID: 28106320"	"63367"	"2021-03-02"
"GENCC_000101-HGNC_22932-OMIM_615352-HP_0000007-GENCC_100003"	"HGNC:22932"	"GMPPB"	"MONDO:0014142"	"autosomal recessive limb-girdle muscular dystrophy type 2T"	"OMIM:615352"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22932"	"GMPPB"	"OMIM:615352"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:24"	""	""	""	"PMID: 28106320"	"63367"	"2021-03-02"
"GENCC_000101-HGNC_4379-OMIM_615361-HP_0000006-GENCC_100003"	"HGNC:4379"	"GNA11"	"MONDO:0014146"	"autosomal dominant hypocalcemia 2"	"OMIM:615361"	"Hypocalcemia, autosomal dominant 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4379"	"GNA11"	"OMIM:615361"	"Hypocalcemia, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-10-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"76256"	"2023-08-19"
"GENCC_000101-HGNC_4379-OMIM_145981-HP_0000006-GENCC_100004"	"HGNC:4379"	"GNA11"	"MONDO:0007792"	"familial hypocalciuric hypercalcemia 2"	"OMIM:145981"	"Hypocalciuric hypercalcemia, type II"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4379"	"GNA11"	"OMIM:145981"	"Hypocalciuric hypercalcemia, type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-10-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"74529"	"2023-08-19"
"GENCC_000101-HGNC_4389-OMIM_615473-HP_0000006-GENCC_100002"	"HGNC:4389"	"GNAO1"	"MONDO:0014199"	"developmental and epileptic encephalopathy, 17"	"OMIM:615473"	"Developmental and epileptic encephalopathy 17"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4389"	"GNAO1"	"OMIM:615473"	"Developmental and epileptic encephalopathy 17"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-07-02 13:35:24"	""	""	""	"PMID: 28106320"	"6447"	"2021-03-02"
"GENCC_000101-HGNC_4392-OMIM_174800-HP_0000005-GENCC_100002"	"HGNC:4392"	"GNAS"	"MONDO:0018919"	"McCune-Albright syndrome"	"OMIM:174800"	"McCune-Albright syndrome, somatic mosaic"	"GENCC:100002"	"Strong"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4392"	"GNAS"	"OMIM:174800"	"McCune-Albright syndrome, somatic, mosai"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-09-05 00:00:00"	""	""	""	"PMID: 28106320"	"6445"	"2021-03-02"
"GENCC_000101-HGNC_4392-OMIM_166350-HP_0000006-GENCC_100008"	"HGNC:4392"	"GNAS"	"MONDO:0008153"	"progressive osseous heteroplasia"	"OMIM:166350"	"Osseous heteroplasia, progressive"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4392"	"GNAS"	"OMIM:166350"	"Osseous heteroplasia, progressive"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-08-31 13:35:25"	""	""	""	"PMID: 28106320"	"6445"	"2021-03-02"
"GENCC_000101-HGNC_4392-OMIM_103580-HP_0000006-GENCC_100001"	"HGNC:4392"	"GNAS"	"MONDO:0007078"	"pseudohypoparathyroidism type 1A"	"OMIM:103580"	"Pseudohypoparathyroidism Ia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4392"	"GNAS"	"OMIM:103580"	"Pseudohypoparathyroidism Ia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-09-05 00:00:00"	""	""	""	"PMID: 28106320"	"6445"	"2021-03-02"
"GENCC_000101-HGNC_4392-OMIM_612463-HP_0000006-GENCC_100003"	"HGNC:4392"	"GNAS"	"MONDO:0012912"	"pseudopseudohypoparathyroidism"	"OMIM:612463"	"Pseudopseudohypoparathyroidism"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4392"	"GNAS"	"OMIM:612463"	"Pseudopseudohypoparathyroidism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-09-05 00:00:00"	""	""	""	"PMID: 28106320"	"6445"	"2021-03-02"
"GENCC_000101-HGNC_4401-OMIM_617182-HP_0000007-GENCC_100002"	"HGNC:4401"	"GNB5"	"MONDO:0014957"	"language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia"	"OMIM:617182"	"Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4401"	"GNB5"	"OMIM:617182"	"Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-26 13:35:26"	""	""	""	"PMID: 28106320"	"82158"	"2021-03-02"
"GENCC_000101-HGNC_29670-OMIM_252600-HP_0000007-GENCC_100001"	"HGNC:29670"	"GNPTAB"	"MONDO:0018931"	"mucolipidosis type III, alpha/beta"	"OMIM:252600"	"Mucolipidosis III alpha/beta"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29670"	"GNPTAB"	"OMIM:252600"	"Mucolipidosis III alpha/beta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:35:26"	""	""	""	"PMID: 28106320"	"43875"	"2021-03-02"
"GENCC_000101-HGNC_29670-OMIM_252500-HP_0000007-GENCC_100001"	"HGNC:29670"	"GNPTAB"	"MONDO:0009650"	"mucolipidosis type II"	"OMIM:252500"	"Mucolipidosis II alpha/beta"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29670"	"GNPTAB"	"OMIM:252500"	"Mucolipidosis II alpha/beta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:35:26"	""	""	""	"PMID: 28106320"	"43875"	"2021-03-02"
"GENCC_000101-HGNC_4433-OMIM_618721-HP_0000007-GENCC_100004"	"HGNC:4433"	"GOT2"	"MONDO:0032880"	"developmental and epileptic encephalopathy, 82"	"OMIM:618721"	"Developmental and epileptic encephalopathy 82"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4433"	"GOT2"	"OMIM:618721"	"Epileptic encephalopathy, early infantile, 82"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-08-29 13:35:27"	""	""	""	"PMID: 28106320"	"6521"	"2021-03-02"
"GENCC_000101-HGNC_4439-OMIM_231200-HP_0032113-GENCC_100001"	"HGNC:4439"	"GP1BA"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"OMIM:231200"	"Bernard-Soulier syndrome, type B"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4439"	"GP1BA"	"OMIM:231200"	"Bernard-Soulier syndrome, type A1 (recessive)"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-26 13:35:27"	""	""	""	"PMID: 28106320"	"6588"	"2021-03-02"
"GENCC_000101-HGNC_4451-OMIM_312870-HP_0001417-GENCC_100001"	"HGNC:4451"	"GPC3"	"MONDO:0020602"	"Simpson-Golabi-Behmel syndrome type 1"	"OMIM:312870"	"Simpson-Golabi-Behmel syndrome, type 1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4451"	"GPC3"	"OMIM:312870"	"Simpson-Golabi-Behmel syndrome, type 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-04 13:35:27"	""	""	""	"PMID: 28106320"	"6483"	"2021-03-02"
"GENCC_000101-HGNC_4452-OMIM_301026-HP_0000007-GENCC_100003"	"HGNC:4452"	"GPC4"	"MONDO:0009720"	"Keipert syndrome"	"OMIM:301026"	"Keipert syndrome"	"GENCC:100003"	"Moderate"	"HP:0001419"	"X-linked recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4452"	"GPC4"	"OMIM:301026"	"Keipert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-04 13:35:27"	""	""	""	"PMID: 28106320"	"6693"	"2021-03-02"
"GENCC_000101-HGNC_4454-OMIM_258315-HP_0000007-GENCC_100003"	"HGNC:4454"	"GPC6"	"MONDO:0009779"	"autosomal recessive omodysplasia"	"OMIM:258315"	"Omodysplasia 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4454"	"GPC6"	"OMIM:258315"	"Omodysplasia 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 13:35:27"	""	""	""	"PMID: 28106320"	"82256"	"2021-03-02"
"GENCC_000101-HGNC_15465-OMIM_615501-HP_0000007-GENCC_100003"	"HGNC:15465"	"GPHN"	"MONDO:0014212"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"	"OMIM:615501"	"Molybdenum cofactor deficiency C"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15465"	"GPHN"	"OMIM:615501"	"Molybdenum cofactor deficiency C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-19 13:35:28"	""	""	""	"PMID: 28106320"	"82609"	"2021-03-02"
"GENCC_000101-HGNC_24945-OMIM_615947-HP_0000007-GENCC_100003"	"HGNC:24945"	"GPIHBP1"	"MONDO:0014412"	"hyperlipoproteinemia, type 1D"	"OMIM:615947"	"Hyperlipoproteinemia, type 1D"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24945"	"GPIHBP1"	"OMIM:615947"	"Hyperlipoproteinemia, type 1D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:28"	""	""	""	"PMID: 28106320"	"995965"	"2021-03-02"
"GENCC_000101-HGNC_4462-OMIM_617920-HP_0000007-GENCC_100003"	"HGNC:4462"	"GPNMB"	"MONDO:0054765"	"amyloidosis, primary localized cutaneous, 3"	"OMIM:617920"	"Amyloidosis, primary localized cutaneous, 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4462"	"GPNMB"	"OMIM:617920"	"Amyloidosis, primary localized cutaneous, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-02 13:35:29"	""	""	""	"PMID: 28106320"	"82074"	"2021-03-02"
"GENCC_000101-HGNC_4519-OMIM_617217-HP_0000007-GENCC_100004"	"HGNC:4519"	"GPR68"	"MONDO:0014971"	"amelogenesis imperfecta, hypomaturation type, IIa6"	"OMIM:617217"	"Amelogenesis imperfecta, hypomaturation type, IIA6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4519"	"GPR68"	"OMIM:617217"	"Amelogenesis imperfecta, hypomaturation type, IIA6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-16 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17787"	"2025-01-17"
"GENCC_000101-HGNC_4539-OMIM_616939-HP_0000007-GENCC_100004"	"HGNC:4539"	"GPR88"	"MONDO:0014839"	"chorea, childhood-onset, with psychomotor retardation"	"OMIM:616939"	"?Chorea, childhood-onset, with psychomotor retardation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4539"	"GPR88"	"OMIM:616939"	"Chorea, childhood-onset, with psychomotor retardation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:35:30"	""	""	""	"PMID: 28106320"	"70886"	"2021-03-02"
"GENCC_000101-HGNC_18062-OMIM_616281-HP_0000007-GENCC_100004"	"HGNC:18062"	"GPT2"	"MONDO:0014567"	"glutamate pyruvate transaminase 2 deficiency"	"OMIM:616281"	"Neurodevelopmental disorder with microcephaly and spastic paraplegia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18062"	"GPT2"	"OMIM:616281"	"Neurodevelopmental disorder with spastic paraplegia with or without microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-02-23 13:35:30"	""	""	""	"PMID: 28106320"	"50421"	"2021-03-02"
"GENCC_000101-HGNC_4556-OMIM_250220-HP_0000007-GENCC_100003"	"HGNC:4556"	"GPX4"	"MONDO:0009593"	"spondylometaphyseal dysplasia, Sedaghatian type"	"OMIM:250220"	"Spondylometaphyseal dysplasia, Sedaghatian type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4556"	"GPX4"	"OMIM:250220"	"Spondylometaphyseal dysplasia, Sedaghatian type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-28 13:35:30"	""	""	""	"PMID: 28106320"	"6543"	"2021-03-02"
"GENCC_000101-HGNC_31042-OMIM_617805-HP_0000006-GENCC_100003"	"HGNC:31042"	"GREB1L"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"OMIM:617805"	"Renal hypodysplasia/aplasia 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31042"	"GREB1L"	"OMIM:617805"	"Renal hypodysplasia/aplasia 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:35:30"	""	""	""	"PMID: 28106320"	"52222"	"2021-03-02"
"GENCC_000101-HGNC_31042-OMIM_617805-HP_0000006-GENCC_100004"	"HGNC:31042"	"GREB1L"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"OMIM:617805"	"Renal hypodysplasia/aplasia 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31042"	"GREB1L"	"OMIM:617805"	"AD non-syndromic inner ear malformations and deafness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-31 13:35:30"	""	""	""	"PMID: 28106320"	"52222"	"2021-03-02"
"GENCC_000101-HGNC_2799-OMIM_608641-HP_0000006-GENCC_100003"	"HGNC:2799"	"GRHL2"	"MONDO:0012083"	"autosomal dominant nonsyndromic hearing loss 28"	"OMIM:608641"	"Deafness, autosomal dominant 28"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2799"	"GRHL2"	"OMIM:608641"	"Deafness, autosomal dominant 28"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-24 13:35:31"	""	""	""	"PMID: 28106320"	"43344"	"2021-03-02"
"GENCC_000101-HGNC_2799-OMIM_616029-HP_0000007-GENCC_100003"	"HGNC:2799"	"GRHL2"	"MONDO:0014460"	"nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"	"OMIM:616029"	"Ectodermal dysplasia/short stature syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2799"	"GRHL2"	"OMIM:616029"	"Ectodermal dysplasia/short stature syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-24 13:35:31"	""	""	""	"PMID: 28106320"	"43344"	"2021-03-02"
"GENCC_000101-HGNC_4573-OMIM_300699-HP_0001417-GENCC_100004"	"HGNC:4573"	"GRIA3"	"MONDO:0010402"	"syndromic X-linked intellectual disability 94"	"OMIM:300699"	"Intellectual developmental disorder, X-linked syndromic, Wu type"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4573"	"GRIA3"	"OMIM:300699"	"Intellectual developmental disorder, X-linked syndromic, Wu type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13044"	"2023-08-19"
"GENCC_000101-HGNC_4574-OMIM_617864-HP_0000006-GENCC_100003"	"HGNC:4574"	"GRIA4"	"MONDO:0060641"	"neurodevelopmental disorder with or without seizures and gait abnormalities"	"OMIM:617864"	"Neurodevelopmental disorder with or without seizures and gait abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4574"	"GRIA4"	"OMIM:617864"	"Neurodevelopmental disorder with or without seizures and gait abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-05-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11904"	"2023-08-19"
"GENCC_000101-HGNC_4580-OMIM_611092-HP_0000007-GENCC_100004"	"HGNC:4580"	"GRIK2"	"MONDO:0012614"	"intellectual disability, autosomal recessive 6"	"OMIM:611092"	"Intellectual developmental disorder, autosomal recessive 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4580"	"GRIK2"	"OMIM:611092"	"Mental retardation, autosomal recessive, 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-23 13:35:31"	""	""	""	"PMID: 28106320"	"6535"	"2021-03-02"
"GENCC_000101-HGNC_4584-OMIM_614254-HP_0000006-GENCC_100003"	"HGNC:4584"	"GRIN1"	"MONDO:0013655"	"intellectual disability, autosomal dominant 8"	"OMIM:614254"	"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4584"	"GRIN1"	"OMIM:614254"	"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"77933"	"2023-08-19"
"GENCC_000101-HGNC_4584-OMIM_617820-HP_0000007-GENCC_100003"	"HGNC:4584"	"GRIN1"	"MONDO:0060629"	"neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive"	"OMIM:617820"	"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4584"	"GRIN1"	"OMIM:617820"	"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17195"	"2023-08-19"
"GENCC_000101-HGNC_4585-OMIM_245570-HP_0000006-GENCC_100002"	"HGNC:4585"	"GRIN2A"	"MONDO:0009509"	"Landau-Kleffner syndrome"	"OMIM:245570"	"Epilepsy, focal, with speech disorder and with or without impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4585"	"GRIN2A"	"OMIM:245570"	"Epilepsy, focal, with speech disorder and with or without mental retardation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-01-14 13:35:32"	""	""	""	"PMID: 28106320"	"6329"	"2021-03-02"
"GENCC_000101-HGNC_4588-OMIM_617162-HP_0000006-GENCC_100002"	"HGNC:4588"	"GRIN2D"	"MONDO:0014947"	"developmental and epileptic encephalopathy, 46"	"OMIM:617162"	"Developmental and epileptic encephalopathy 46"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4588"	"GRIN2D"	"OMIM:617162"	"Developmental and epileptic encephalopathy 46"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-09-06 13:35:32"	""	""	""	"PMID: 28106320"	"6321"	"2021-03-02"
"GENCC_000101-HGNC_4601-OMIM_614706-HP_0000007-GENCC_100003"	"HGNC:4601"	"GRN"	"MONDO:0013866"	"neuronal ceroid lipofuscinosis 11"	"OMIM:614706"	"Ceroid lipofuscinosis, neuronal, 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4601"	"GRN"	"OMIM:614706"	"Ceroid lipofuscinosis, neuronal, 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-22 13:35:32"	""	""	""	"PMID: 28106320"	"6531"	"2021-03-02"
"GENCC_000101-HGNC_4620-OMIM_105120-HP_0000006-GENCC_100003"	"HGNC:4620"	"GSN"	"MONDO:0007097"	"Finnish type amyloidosis"	"OMIM:105120"	"Amyloidosis, Finnish type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4620"	"GSN"	"OMIM:105120"	"Amyloidosis, Finnish type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:35:33"	""	""	""	"PMID: 28106320"	"6390"	"2021-03-02"
"GENCC_000101-HGNC_4623-OMIM_618660-HP_0000007-GENCC_100004"	"HGNC:4623"	"GSR"	"MONDO:0019531"	"hemolytic anemia due to glutathione reductase deficiency"	"OMIM:618660"	"Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4623"	"GSR"	"OMIM:618660"	"Hemolytic anemia due to glutathione reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-19 13:35:33"	""	""	""	"PMID: 28106320"	"6391"	"2021-03-02"
"GENCC_000101-HGNC_4651-OMIM_616943-HP_0000007-GENCC_100003"	"HGNC:4651"	"GTF2E2"	"MONDO:0014841"	"trichothiodystrophy 6, nonphotosensitive"	"OMIM:616943"	"Trichothiodystrophy 6, nonphotosensitive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4651"	"GTF2E2"	"OMIM:616943"	"Trichothiodystrophy 6, nonphotosensitive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-22 13:35:33"	""	""	""	"PMID: 28106320"	"6318"	"2021-03-02"
"GENCC_000101-HGNC_4689-OMIM_204000-HP_0000007-GENCC_100001"	"HGNC:4689"	"GUCY2D"	"MONDO:0008764"	"Leber congenital amaurosis 1"	"OMIM:204000"	"Leber congenital amaurosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4689"	"GUCY2D"	"OMIM:204000"	"Leber congenital amaurosis 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-28 13:35:34"	""	""	""	"PMID: 28106320"	"9222"	"2021-03-02"
"GENCC_000101-HGNC_4796-OMIM_617660-HP_0000007-GENCC_100004"	"HGNC:4796"	"HAAO"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"OMIM:617660"	"Vertebral, cardiac, renal, and limb defects syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4796"	"HAAO"	"OMIM:617660"	"Vertebral, cardiac, renal, and limb defects syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-10-30 13:35:34"	""	""	""	"PMID: 28106320"	"69035"	"2021-03-02"
"GENCC_000101-HGNC_4823-OMIM_604131-HP_0032113-GENCC_100001"	"HGNC:4823"	"HBA1"	"MONDO:0011399"	"alpha thalassemia spectrum"	"OMIM:604131"	"Thalassemias, alpha-"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4823"	"HBA1"	"OMIM:604131"	"Thalassemias, alpha-"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-06 13:35:34"	""	""	""	"PMID: 28106320"	"9293"	"2021-03-02"
"GENCC_000101-HGNC_4827-OMIM_617971-HP_0000006-GENCC_100003"	"HGNC:4827"	"HBB"	"MONDO:0018023"	"hemoglobin M disease"	"OMIM:617971"	"Methemoglobinemia, beta type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4827"	"HBB"	"OMIM:617971"	"Methemoglobinemia, beta type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-20 13:35:35"	""	""	""	"PMID: 28106320"	"9209"	"2021-03-02"
"GENCC_000101-HGNC_4827-OMIM_613985-HP_0032113-GENCC_100001"	"HGNC:4827"	"HBB"	"MONDO:0013517"	"beta-thalassemia HBB/LCRB"	"OMIM:613985"	"Thalassemia, Hispanic gamma-delta-beta"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4827"	"HBB"	"OMIM:613985"	"Thalassemia, beta"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-20 13:35:35"	""	""	""	"PMID: 28106320"	"9209"	"2021-03-02"
"GENCC_000101-HGNC_4839-OMIM_309541-HP_0001417-GENCC_100003"	"HGNC:4839"	"HCFC1"	"MONDO:0010657"	"methylmalonic acidemia with homocystinuria, type cblX"	"OMIM:309541"	"Methylmalonic aciduria and homocysteinemia, cblX type"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4839"	"HCFC1"	"OMIM:309541"	"Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-20 13:35:35"	""	""	""	"PMID: 28106320"	"9270"	"2021-03-02"
"GENCC_000101-HGNC_4845-OMIM_615871-HP_0000006-GENCC_100001"	"HGNC:4845"	"HCN1"	"MONDO:0014377"	"developmental and epileptic encephalopathy, 24"	"OMIM:615871"	"Developmental and epileptic encephalopathy 24"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4845"	"HCN1"	"OMIM:615871"	"Developmental and epileptic encephalopathy 24"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-30 13:35:36"	""	""	""	"PMID: 28106320"	"905352"	"2021-03-02"
"GENCC_000101-HGNC_16882-OMIM_613123-HP_0000006-GENCC_100003"	"HGNC:16882"	"HCN4"	"MONDO:0013148"	"Brugada syndrome 8"	"OMIM:613123"	"Brugada syndrome 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16882"	"HCN4"	"OMIM:613123"	"Brugada syndrome 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-29 13:35:36"	""	""	""	"PMID: 28106320"	"82268"	"2021-03-02"
"GENCC_000101-HGNC_16882-OMIM_163800-HP_0000006-GENCC_100002"	"HGNC:16882"	"HCN4"	"MONDO:0008102"	"sick sinus syndrome 2, autosomal dominant"	"OMIM:163800"	"Sick sinus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16882"	"HCN4"	"OMIM:163800"	"Sick sinus syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-29 13:35:36"	""	""	""	"PMID: 28106320"	"82268"	"2021-03-02"
"GENCC_000101-HGNC_13315-OMIM_300882-HP_0001417-GENCC_100002"	"HGNC:13315"	"HDAC8"	"MONDO:0010471"	"Cornelia de Lange syndrome 5"	"OMIM:300882"	"Cornelia de Lange syndrome 5"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13315"	"HDAC8"	"OMIM:300882"	"Cornelia de Lange syndrome 5"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-08 13:35:36"	""	""	""	"PMID: 28106320"	"77513"	"2021-03-02"
"GENCC_000101-HGNC_4855-OMIM_137580-HP_0000006-GENCC_100004"	"HGNC:4855"	"HDC"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4855"	"HDC"	"OMIM:137580"	"Gilles de la Tourette syndrome, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:35:36"	""	""	""	"PMID: 28106320"	"9214"	"2021-03-02"
"GENCC_000101-HGNC_26361-OMIM_613925-HP_0000007-GENCC_100002"	"HGNC:26361"	"HEPACAM"	"MONDO:0013490"	"megalencephalic leukoencephalopathy with subcortical cysts 2A"	"OMIM:613925"	"Megalencephalic leukoencephalopathy with subcortical cysts 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26361"	"HEPACAM"	"OMIM:613925"	"Megalencephalic leukoencephalopathy with subcortical cysts 2A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-04-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13101"	"2023-08-19"
"GENCC_000101-HGNC_4867-OMIM_617011-HP_0000007-GENCC_100003"	"HGNC:4867"	"HERC1"	"MONDO:0014863"	"macrocephaly, dysmorphic facies, and psychomotor retardation"	"OMIM:617011"	"Macrocephaly, dysmorphic facies, and psychomotor retardation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4867"	"HERC1"	"OMIM:617011"	"Macrocephaly, dysmorphic facies, and psychomotor retardation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:35:37"	""	""	""	"PMID: 28106320"	"5367"	"2021-03-02"
"GENCC_000101-HGNC_4893-OMIM_608265-HP_0000007-GENCC_100004"	"HGNC:4893"	"HGF"	"MONDO:0012003"	"autosomal recessive nonsyndromic hearing loss 39"	"OMIM:608265"	"Deafness, autosomal recessive 39"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4893"	"HGF"	"OMIM:608265"	"Deafness, autosomal recessive 39"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-05 13:35:37"	""	""	""	"PMID: 28106320"	"9256"	"2021-03-02"
"GENCC_000101-HGNC_26527-OMIM_252930-HP_0000007-GENCC_100001"	"HGNC:26527"	"HGSNAT"	"MONDO:0009657"	"mucopolysaccharidosis type 3C"	"OMIM:252930"	"Mucopolysaccharidosis type IIIC (Sanfilippo C)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26527"	"HGSNAT"	"OMIM:252930"	"Mucopolysaccharidosis type IIIC (Sanfilippo C)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-01-17 00:00:00"	""	""	""	"PMID: 28106320"	"895272"	"2021-03-02"
"GENCC_000101-HGNC_26527-OMIM_616544-HP_0000007-GENCC_100003"	"HGNC:26527"	"HGSNAT"	"MONDO:0014687"	"retinitis pigmentosa 73"	"OMIM:616544"	"Retinitis pigmentosa 73"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26527"	"HGSNAT"	"OMIM:616544"	"Retinitis pigmentosa 73"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:38"	""	""	""	"PMID: 28106320"	"895272"	"2021-03-02"
"GENCC_000101-HGNC_4922-OMIM_235700-HP_0000007-GENCC_100003"	"HGNC:4922"	"HK1"	"MONDO:0009340"	"non-spherocytic hemolytic anemia due to hexokinase deficiency"	"OMIM:235700"	"Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4922"	"HK1"	"OMIM:235700"	"Hemolytic anemia due to hexokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:39"	""	""	""	"PMID: 28106320"	"9235"	"2021-03-02"
"GENCC_000101-HGNC_4922-OMIM_605285-HP_0000007-GENCC_100004"	"HGNC:4922"	"HK1"	"MONDO:0011534"	"Charcot-Marie-Tooth disease type 4G"	"OMIM:605285"	"Neuropathy, hereditary motor and sensory, Russe type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4922"	"HK1"	"OMIM:605285"	"Neuropathy, hereditary motor and sensory, Russe type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:35:39"	""	""	""	"PMID: 28106320"	"9235"	"2021-03-02"
"GENCC_000101-HGNC_4922-OMIM_617460-HP_0000006-GENCC_100003"	"HGNC:4922"	"HK1"	"MONDO:0044320"	"retinitis pigmentosa 79"	"OMIM:617460"	"Retinitis pigmentosa 79"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4922"	"HK1"	"OMIM:617460"	"Retinitis pigmentosa 79"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:40"	""	""	""	"PMID: 28106320"	"9235"	"2021-03-02"
"GENCC_000101-HGNC_4922-OMIM_618547-HP_0000006-GENCC_100003"	"HGNC:4922"	"HK1"	"MONDO:0032807"	"neurodevelopmental disorder with visual defects and brain anomalies"	"OMIM:618547"	"Neurodevelopmental disorder with visual defects and brain anomalies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4922"	"HK1"	"OMIM:618547"	"Neurodevelopmental disorder with visual defects and brain anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-23 13:35:40"	""	""	""	"PMID: 28106320"	"9235"	"2021-03-02"
"GENCC_000101-HGNC_5009-OMIM_618908-HP_0000006-GENCC_100001"	"HGNC:5009"	"HMGA2"	"MONDO:0020795"	"Silver-Russell syndrome 5"	"OMIM:618908"	"Silver-Russell syndrome 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5009"	"HMGA2"	"OMIM:618908"	"Silver-Russell syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-19 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42163"	"2025-01-17"
"GENCC_000101-HGNC_5013-OMIM_614034-HP_0000007-GENCC_100004"	"HGNC:5013"	"HMOX1"	"MONDO:0013536"	"heme oxygenase 1 deficiency"	"OMIM:614034"	"Heme oxygenase-1 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5013"	"HMOX1"	"OMIM:614034"	"Heme oxygenase-1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-03 13:35:41"	""	""	""	"PMID: 28106320"	"9816"	"2021-03-02"
"GENCC_000101-HGNC_5024-OMIM_125850-HP_0000006-GENCC_100001"	"HGNC:5024"	"HNF4A"	"MONDO:0007452"	"maturity-onset diabetes of the young type 1"	"OMIM:125850"	"MODY, type I"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5024"	"HNF4A"	"OMIM:125850"	"MODY, type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-30 13:35:41"	""	""	""	"PMID: 28106320"	"9846"	"2021-03-02"
"GENCC_000101-HGNC_5044-OMIM_616580-HP_0000006-GENCC_100003"	"HGNC:5044"	"HNRNPK"	"MONDO:0014700"	"Au-Kline syndrome"	"OMIM:616580"	"Au-Kline syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5044"	"HNRNPK"	"OMIM:616580"	"Au-Kline syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-26 13:35:41"	""	""	""	"PMID: 28106320"	"9832"	"2021-03-02"
"GENCC_000101-HGNC_5048-OMIM_617391-HP_0000006-GENCC_100003"	"HGNC:5048"	"HNRNPU"	"MONDO:0033363"	"developmental and epileptic encephalopathy, 54"	"OMIM:617391"	"Developmental and epileptic encephalopathy 54"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5048"	"HNRNPU"	"OMIM:617391"	"Developmental and epileptic encephalopathy 54"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-23 13:35:42"	""	""	""	"PMID: 28106320"	"9836"	"2021-03-02"
"GENCC_000101-HGNC_17513-OMIM_616707-HP_0000006-GENCC_100003"	"HGNC:17513"	"HOMER2"	"MONDO:0014740"	"autosomal dominant nonsyndromic hearing loss 68"	"OMIM:616707"	"?Deafness, autosomal dominant 68"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17513"	"HOMER2"	"OMIM:616707"	"Deafness, autosomal dominant 68"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-05 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73037"	"2024-01-02"
"GENCC_000101-HGNC_5099-OMIM_601536-HP_0000007-GENCC_100003"	"HGNC:5099"	"HOXA1"	"MONDO:0011099"	"human HOXA1 syndromes"	"OMIM:601536"	"Athabaskan brainstem dysgenesis syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5099"	"HOXA1"	"OMIM:601536"	"Bosley-Salih-Alorainy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-30 13:35:42"	""	""	""	"PMID: 28106320"	"9835"	"2021-03-02"
"GENCC_000101-HGNC_5101-OMIM_605432-HP_0000006-GENCC_100004"	"HGNC:5101"	"HOXA11"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"OMIM:605432"	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5101"	"HOXA11"	"OMIM:605432"	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:35:42"	""	""	""	"PMID: 28106320"	"9624"	"2021-03-02"
"GENCC_000101-HGNC_5102-OMIM_140000-HP_0000006-GENCC_100003"	"HGNC:5102"	"HOXA13"	"MONDO:0007698"	"hand-foot-genital syndrome"	"OMIM:140000"	"Hand-foot-genital syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5102"	"HOXA13"	"OMIM:140000"	"Hand-foot-uterus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:42"	""	""	""	"PMID: 28106320"	"9623"	"2021-03-02"
"GENCC_000101-HGNC_5103-OMIM_612290-HP_0032113-GENCC_100003"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"?Microtia, hearing impairment, and cleft palate (AR)"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"Microtia, hearing impairment, and cleft palate (AR)"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:42"	""	""	""	"PMID: 28106320"	"9833"	"2021-03-02"
"GENCC_000101-HGNC_5111-OMIM_614744-HP_0000007-GENCC_100003"	"HGNC:5111"	"HOXB1"	"MONDO:0013880"	"facial paresis, hereditary congenital, 3"	"OMIM:614744"	"Facial paresis, hereditary congenital, 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5111"	"HOXB1"	"OMIM:614744"	"Facial paresis, hereditary congenital, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:43"	""	""	""	"PMID: 28106320"	"9688"	"2021-03-02"
"GENCC_000101-HGNC_28242-OMIM_619026-HP_0000007-GENCC_100003"	"HGNC:28242"	"HPDL"	"MONDO:0033613"	"neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"OMIM:619026"	"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28242"	"HPDL"	"OMIM:619026"	"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-11-06 13:35:43"	""	""	""	"PMID: 28106320"	"50506"	"2021-03-02"
"GENCC_000101-HGNC_5157-OMIM_300322-HP_0001417-GENCC_100001"	"HGNC:5157"	"HPRT1"	"MONDO:0010298"	"Lesch-Nyhan syndrome"	"OMIM:300322"	"Lesch-Nyhan syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5157"	"HPRT1"	"OMIM:300322"	"Lesch-Nyhan syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-12 13:35:43"	""	""	""	"PMID: 28106320"	"9678"	"2021-03-02"
"GENCC_000101-HGNC_15844-OMIM_614073-HP_0000007-GENCC_100003"	"HGNC:15844"	"HPS4"	"MONDO:0013556"	"Hermansky-Pudlak syndrome 4"	"OMIM:614073"	"Hermansky-Pudlak syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15844"	"HPS4"	"OMIM:614073"	"Hermansky-Pudlak syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:43"	""	""	""	"PMID: 28106320"	"53458"	"2021-03-02"
"GENCC_000101-HGNC_18374-OMIM_236730-HP_0000007-GENCC_100003"	"HGNC:18374"	"HPSE2"	"MONDO:0009368"	"urofacial syndrome type 1"	"OMIM:236730"	"Urofacial syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18374"	"HPSE2"	"OMIM:236730"	"Urofacial syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-19 13:35:43"	""	""	""	"PMID: 28106320"	"12037"	"2021-03-02"
"GENCC_000101-HGNC_19133-OMIM_301025-HP_0001417-GENCC_100004"	"HGNC:19133"	"HS6ST2"	"MONDO:0026724"	"Paganini-Miozzo syndrome"	"OMIM:301025"	"?Paganini-Miozzo syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19133"	"HS6ST2"	"OMIM:301025"	"Paganini-Miozzo syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-11-30 13:35:44"	""	""	""	"PMID: 28106320"	"32818"	"2021-03-02"
"GENCC_000101-HGNC_5246-OMIM_608634-HP_0000006-GENCC_100003"	"HGNC:5246"	"HSPB1"	"MONDO:0012080"	"neuronopathy, distal hereditary motor, type 2B"	"OMIM:608634"	"Neuronopathy, distal hereditary motor, autosomal dominant 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5246"	"HSPB1"	"OMIM:608634"	"Neuronopathy, distal hereditary motor, type IIB"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:44"	""	""	""	"PMID: 28106320"	"9987"	"2021-03-02"
"GENCC_000101-HGNC_30892-OMIM_309590-HP_0001417-GENCC_100001"	"HGNC:30892"	"HUWE1"	"MONDO:0010407"	"intellectual disability, X-linked syndromic, Turner type"	"OMIM:309590"	"Intellectual developmental disorder, X-linked syndromic, Turner type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30892"	"HUWE1"	"OMIM:309590"	"Mental retardation, X-linked syndromic, Turner type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-29 13:35:44"	""	""	""	"PMID: 28106320"	"82247"	"2021-03-02"
"GENCC_000101-HGNC_19368-OMIM_608647-HP_0000007-GENCC_100003"	"HGNC:19368"	"HYDIN"	"MONDO:0012088"	"primary ciliary dyskinesia 5"	"OMIM:608647"	"Ciliary dyskinesia, primary, 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19368"	"HYDIN"	"OMIM:608647"	"Ciliary dyskinesia, primary, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-30 13:35:45"	""	""	""	"PMID: 28106320"	"70415"	"2021-03-02"
"GENCC_000101-HGNC_5433-OMIM_616669-HP_0000007-GENCC_100004"	"HGNC:5433"	"IFNAR2"	"MONDO:0014727"	"immunodeficiency 45"	"OMIM:616669"	"Immunodeficiency 45"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5433"	"IFNAR2"	"OMIM:616669"	"Immunodeficiency 45"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:35:45"	""	""	""	"PMID: 28106320"	"9077"	"2021-03-02"
"GENCC_000101-HGNC_18626-OMIM_615996-HP_0000007-GENCC_100004"	"HGNC:18626"	"IFT27"	"MONDO:0014447"	"Bardet-Biedl syndrome 19"	"OMIM:615996"	"Bardet-Biedl syndrome 19"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18626"	"IFT27"	"OMIM:615996"	"Bardet-Biedl syndrome 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-18 13:35:46"	""	""	""	"PMID: 28106320"	"88262"	"2021-03-02"
"GENCC_000101-HGNC_15901-OMIM_617102-HP_0000007-GENCC_100004"	"HGNC:15901"	"IFT52"	"MONDO:0014915"	"short-rib thoracic dysplasia 16 with or without polydactyly"	"OMIM:617102"	"Short-rib thoracic dysplasia 16 with or without polydactyly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15901"	"IFT52"	"OMIM:617102"	"Short-rib thoracic dysplasia 16 with or without polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:35:46"	""	""	""	"PMID: 28106320"	"78235"	"2021-03-02"
"GENCC_000101-HGNC_5461-OMIM_300472-HP_0000006-GENCC_100004"	"HGNC:5461"	"IGBP1"	"MONDO:0010333"	"corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	"OMIM:300472"	"?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5461"	"IGBP1"	"OMIM:300472"	"Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:35:46"	""	""	""	"PMID: 28106320"	"9041"	"2021-03-02"
"GENCC_000101-HGNC_5542-OMIM_604320-HP_0000007-GENCC_100001"	"HGNC:5542"	"IGHMBP2"	"MONDO:0011436"	"autosomal recessive distal spinal muscular atrophy 1"	"OMIM:604320"	"Neuronopathy, distal hereditary motor, autosomal recessive 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5542"	"IGHMBP2"	"OMIM:604320"	"Neuronopathy, distal hereditary motor, type VI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-20 13:35:46"	""	""	""	"PMID: 28106320"	"9725"	"2021-03-02"
"GENCC_000101-HGNC_5542-OMIM_616155-HP_0000007-GENCC_100002"	"HGNC:5542"	"IGHMBP2"	"MONDO:0014511"	"Charcot-Marie-Tooth disease axonal type 2S"	"OMIM:616155"	"Charcot-Marie-Tooth disease, axonal, type 2S"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5542"	"IGHMBP2"	"OMIM:616155"	"Charcot-Marie-Tooth disease, axonal, type 2S"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-20 13:35:47"	""	""	""	"PMID: 28106320"	"9725"	"2021-03-02"
"GENCC_000101-HGNC_5870-OMIM_613500-HP_0000007-GENCC_100004"	"HGNC:5870"	"IGLL1"	"MONDO:0013287"	"agammaglobulinemia 2, autosomal recessive"	"OMIM:613500"	"Agammaglobulinemia 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5870"	"IGLL1"	"OMIM:613500"	"Agammaglobulinemia 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-23 13:35:47"	""	""	""	"PMID: 28106320"	"9709"	"2021-03-02"
"GENCC_000101-HGNC_5948-OMIM_300888-HP_0001417-GENCC_100001"	"HGNC:5948"	"IGSF1"	"MONDO:0010475"	"X-linked central congenital hypothyroidism with late-onset testicular enlargement"	"OMIM:300888"	"Hypothyroidism, central, and testicular enlargement"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5948"	"IGSF1"	"OMIM:300888"	"Hypothyroidism, central, and testicular enlargement"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-21 13:35:48"	""	""	""	"PMID: 28106320"	"9704"	"2021-03-02"
"GENCC_000101-HGNC_5960-OMIM_618204-HP_0000006-GENCC_100003"	"HGNC:5960"	"IKBKB"	"MONDO:0032599"	"immunodeficiency 15a"	"OMIM:618204"	"Immunodeficiency 15A"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5960"	"IKBKB"	"OMIM:618204"	"Immunodeficiency 15A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-27 13:35:48"	""	""	""	"PMID: 28106320"	"9778"	"2021-03-02"
"GENCC_000101-HGNC_5960-OMIM_615592-HP_0000007-GENCC_100002"	"HGNC:5960"	"IKBKB"	"MONDO:0014267"	"severe combined immunodeficiency due to IKK2 deficiency"	"OMIM:615592"	"Immunodeficiency 15B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5960"	"IKBKB"	"OMIM:615592"	"Immunodeficiency 15B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-06-27 13:35:49"	""	""	""	"PMID: 28106320"	"9778"	"2021-03-02"
"GENCC_000101-HGNC_5964-OMIM_613148-HP_0000007-GENCC_100003"	"HGNC:5964"	"IL10RA"	"MONDO:0013153"	"inflammatory bowel disease 28"	"OMIM:613148"	"Inflammatory bowel disease 28, early onset, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5964"	"IL10RA"	"OMIM:613148"	"Inflammatory bowel disease 28, early onset, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:49"	""	""	""	"PMID: 28106320"	"9754"	"2021-03-02"
"GENCC_000101-HGNC_5967-OMIM_614188-HP_0000007-GENCC_100003"	"HGNC:5967"	"IL11RA"	"MONDO:0013615"	"craniosynostosis and dental anomalies"	"OMIM:614188"	"Craniosynostosis and dental anomalies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5967"	"IL11RA"	"OMIM:614188"	"Craniosynostosis and dental anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-28 13:35:49"	""	""	""	"PMID: 28106320"	"9732"	"2021-03-02"
"GENCC_000101-HGNC_5985-OMIM_613953-HP_0000007-GENCC_100004"	"HGNC:5985"	"IL17RA"	"MONDO:0013500"	"immunodeficiency 51"	"OMIM:613953"	"Immunodeficiency 51"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5985"	"IL17RA"	"OMIM:613953"	"Immunodeficiency 51"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:35:50"	""	""	""	"PMID: 28106320"	"69417"	"2021-03-02"
"GENCC_000101-HGNC_5996-OMIM_300143-HP_0001417-GENCC_100003"	"HGNC:5996"	"IL1RAPL1"	"MONDO:0010256"	"intellectual disability, X-linked 21"	"OMIM:300143"	"Intellectual developmental disorder, X-linked 21"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5996"	"IL1RAPL1"	"OMIM:300143"	"Mental retardation, X-linked 21/34"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:50"	""	""	""	"PMID: 28106320"	"88808"	"2021-03-02"
"GENCC_000101-HGNC_6006-OMIM_615207-HP_0000007-GENCC_100003"	"HGNC:6006"	"IL21R"	"MONDO:0014082"	"cryptosporidiosis-chronic cholangitis-liver disease syndrome"	"OMIM:615207"	"Immunodeficiency 56"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6006"	"IL21R"	"OMIM:615207"	"Immunodeficiency 56"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:35:50"	""	""	""	"PMID: 28106320"	"72187"	"2021-03-02"
"GENCC_000101-HGNC_6010-OMIM_300400-HP_0001417-GENCC_100001"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"OMIM:300400"	"Severe combined immunodeficiency, X-linked"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6010"	"IL2RG"	"OMIM:300400"	"Severe combined immunodeficiency, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-05 13:35:50"	""	""	""	"PMID: 28106320"	"9718"	"2021-03-02"
"GENCC_000101-HGNC_6050-OMIM_617323-HP_0000007-GENCC_100004"	"HGNC:6050"	"IMPA1"	"MONDO:0015020"	"intellectual disability, autosomal recessive 59"	"OMIM:617323"	"Intellectual developmental disorder, autosomal recessive 59"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6050"	"IMPA1"	"OMIM:617323"	"Mental retardation, autosomal recessive 59"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:35:51"	""	""	""	"PMID: 28106320"	"9186"	"2021-03-02"
"GENCC_000101-HGNC_6052-OMIM_180105-HP_0000006-GENCC_100003"	"HGNC:6052"	"IMPDH1"	"MONDO:0008379"	"retinitis pigmentosa 10"	"OMIM:180105"	"Retinitis pigmentosa 10"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6052"	"IMPDH1"	"OMIM:180105"	"Retinitis pigmentosa 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-09 13:35:51"	""	""	""	"PMID: 28106320"	"9180"	"2021-03-02"
"GENCC_000101-HGNC_6062-OMIM_275355-HP_0000005-GENCC_100008"	"HGNC:6062"	"ING1"	"MONDO:0010150"	"head and neck squamous cell carcinoma"	"OMIM:275355"	"Squamous cell carcinoma, head and neck, somatic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6062"	"ING1"	"OMIM:275355"	"Squamous cell carcinoma, head and neck, somatic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-06-22 13:35:52"	""	""	""	"PMID: 28106320"	"9168"	"2021-03-02"
"GENCC_000101-HGNC_21474-OMIM_213300-HP_0000007-GENCC_100002"	"HGNC:21474"	"INPP5E"	"MONDO:0008944"	"Joubert syndrome 1"	"OMIM:213300"	"Joubert syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21474"	"INPP5E"	"OMIM:213300"	"Joubert syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-10-20 00:00:00"	""	""	""	"PMID: 28106320"	"71169"	"2021-03-02"
"GENCC_000101-HGNC_33882-OMIM_617404-HP_0000007-GENCC_100002"	"HGNC:33882"	"INPP5K"	"MONDO:0024607"	"congenital muscular dystrophy with cataracts and intellectual disability"	"OMIM:617404"	"Muscular dystrophy, congenital, with cataracts and intellectual disability"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:33882"	"INPP5K"	"OMIM:617404"	"Muscular dystrophy, congenital, with cataracts and intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-09-30 13:35:52"	""	""	""	"PMID: 28106320"	"78419"	"2021-03-02"
"GENCC_000101-HGNC_6086-OMIM_219050-HP_0000006-GENCC_100003"	"HGNC:6086"	"INSL3"	"MONDO:0009047"	"cryptorchidism"	"OMIM:219050"	"Cryptorchidism"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6086"	"INSL3"	"OMIM:219050"	"Cryptorchidism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-03 13:35:53"	""	""	""	"PMID: 28106320"	"9102"	"2021-03-02"
"GENCC_000101-HGNC_24555-OMIM_618571-HP_0000007-GENCC_100003"	"HGNC:24555"	"INTS1"	"MONDO:0032817"	"neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"	"OMIM:618571"	"Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24555"	"INTS1"	"OMIM:618571"	"Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-10 13:35:53"	""	""	""	"PMID: 28106320"	"61849"	"2021-03-02"
"GENCC_000101-HGNC_17870-OMIM_602088-HP_0000007-GENCC_100001"	"HGNC:17870"	"INVS"	"MONDO:0011190"	"nephronophthisis 2"	"OMIM:602088"	"Nephronophthisis 2, infantile"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17870"	"INVS"	"OMIM:602088"	"Nephronophthisis 2, infantile"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-11-01 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"81241"	"2024-01-02"
"GENCC_000101-HGNC_29112-OMIM_618687-HP_0000007-GENCC_100004"	"HGNC:29112"	"IQSEC1"	"MONDO:0032870"	"intellectual developmental disorder with short stature and behavioral abnormalities"	"OMIM:618687"	"Intellectual developmental disorder with short stature and behavioral abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29112"	"IQSEC1"	"OMIM:618687"	"Intellectual developmental disorder with short stature and behavioral abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-11-07 13:35:54"	""	""	""	"PMID: 28106320"	"3366"	"2021-03-02"
"GENCC_000101-HGNC_17020-OMIM_611064-HP_0000006-GENCC_100004"	"HGNC:17020"	"IRAK3"	"MONDO:0012607"	"asthma-related traits, susceptibility to, 5"	"OMIM:611064"	"{Asthma susceptibility 5}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17020"	"IRAK3"	"OMIM:611064"	"Asthma susceptibility 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:35:55"	""	""	""	"PMID: 28106320"	"88689"	"2021-03-02"
"GENCC_000101-HGNC_14282-OMIM_618088-HP_0000006-GENCC_100003"	"HGNC:14282"	"IRF2BPL"	"MONDO:0060759"	"neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	"OMIM:618088"	"Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14282"	"IRF2BPL"	"OMIM:618088"	"Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-06 13:35:55"	""	""	""	"PMID: 28106320"	"10624"	"2021-03-02"
"GENCC_000101-HGNC_6128-OMIM_301035-HP_0001417-GENCC_100004"	"HGNC:6128"	"IRS4"	"MONDO:0026732"	"hypothyroidism, congenital, nongoitrous, 9"	"OMIM:301035"	"Hypothyroidism, congenital, nongoitrous, 9"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6128"	"IRS4"	"OMIM:301035"	"Hypothyroidism, congenital, nongoitrous, 9"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-06 13:35:56"	""	""	""	"PMID: 28106320"	"5048"	"2021-03-02"
"GENCC_000101-HGNC_28660-OMIM_617613-HP_0000007-GENCC_100004"	"HGNC:28660"	"ISCA1"	"MONDO:0033282"	"multiple mitochondrial dysfunctions syndrome 5"	"OMIM:617613"	"Multiple mitochondrial dysfunctions syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28660"	"ISCA1"	"OMIM:617613"	"Multiple mitochondrial dysfunctions syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-27 13:35:56"	""	""	""	"PMID: 28106320"	"58153"	"2021-03-02"
"GENCC_000101-HGNC_19857-OMIM_616370-HP_0000007-GENCC_100003"	"HGNC:19857"	"ISCA2"	"MONDO:0014611"	"multiple mitochondrial dysfunctions syndrome 4"	"OMIM:616370"	"Multiple mitochondrial dysfunctions syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19857"	"ISCA2"	"OMIM:616370"	"Multiple mitochondrial dysfunctions syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-11 13:35:56"	""	""	""	"PMID: 28106320"	"866318"	"2021-03-02"
"GENCC_000101-HGNC_13890-OMIM_613385-HP_0000007-GENCC_100003"	"HGNC:13890"	"ITCH"	"MONDO:0013245"	"syndromic multisystem autoimmune disease due to ITCH deficiency"	"OMIM:613385"	"Autoimmune disease, multisystem, with facial dysmorphism"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13890"	"ITCH"	"OMIM:613385"	"Autoimmune disease, multisystem, with facial dysmorphism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-19 13:35:56"	""	""	""	"PMID: 28106320"	"59494"	"2021-03-02"
"GENCC_000101-HGNC_6138-OMIM_273800-HP_0000007-GENCC_100001"	"HGNC:6138"	"ITGA2B"	"MONDO:0010119"	"Glanzmann's thrombasthenia"	"OMIM:273800"	"Glanzmann thrombasthenia 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6138"	"ITGA2B"	"OMIM:273800"	"Glanzmann thrombasthenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-19 13:35:56"	""	""	""	"PMID: 28106320"	"9140"	"2021-03-02"
"GENCC_000101-HGNC_6138-OMIM_187800-HP_0000006-GENCC_100003"	"HGNC:6138"	"ITGA2B"	"MONDO:0008552"	"platelet-type bleeding disorder 16"	"OMIM:187800"	"Bleeding disorder, platelet-type, 16, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6138"	"ITGA2B"	"OMIM:187800"	"Bleeding disorder, platelet-type, 16, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-19 13:35:57"	""	""	""	"PMID: 28106320"	"9140"	"2021-03-02"
"GENCC_000101-HGNC_6139-OMIM_614748-HP_0000007-GENCC_100002"	"HGNC:6139"	"ITGA3"	"MONDO:0013881"	"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"OMIM:614748"	"Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6139"	"ITGA3"	"OMIM:614748"	"Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:35:57"	""	""	""	"PMID: 28106320"	"9147"	"2021-03-02"
"GENCC_000101-HGNC_6155-OMIM_116920-HP_0000007-GENCC_100001"	"HGNC:6155"	"ITGB2"	"MONDO:0007293"	"leukocyte adhesion deficiency 1"	"OMIM:116920"	"Leukocyte adhesion deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6155"	"ITGB2"	"OMIM:116920"	"Leukocyte adhesion deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-24 13:35:57"	""	""	""	"PMID: 28106320"	"9153"	"2021-03-02"
"GENCC_000101-HGNC_6158-OMIM_226730-HP_0000007-GENCC_100001"	"HGNC:6158"	"ITGB4"	"MONDO:0009183"	"junctional epidermolysis bullosa with pyloric atresia"	"OMIM:226730"	"Epidermolysis bullosa, junctional 5B, with pyloric atresia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6158"	"ITGB4"	"OMIM:226730"	"Epidermolysis bullosa, junctional, with pyloric atresia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-10-26 00:00:00"	""	""	""	"PMID: 28106320"	"9138"	"2021-03-02"
"GENCC_000101-HGNC_6176-OMIM_613850-HP_0000007-GENCC_100003"	"HGNC:6176"	"ITPA"	"MONDO:0013461"	"inosine triphosphatase deficiency"	"OMIM:613850"	"[Inosine triphosphatase deficiency]"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6176"	"ITPA"	"OMIM:613850"	"Inosine triphosphatase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-14 13:35:58"	""	""	""	"PMID: 28106320"	"9420"	"2021-03-02"
"GENCC_000101-HGNC_6188-OMIM_118450-HP_0000006-GENCC_100001"	"HGNC:6188"	"JAG1"	"MONDO:0016862"	"Alagille syndrome due to a JAG1 point mutation"	"OMIM:118450"	"Alagille syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6188"	"JAG1"	"OMIM:118450"	"Alagille syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-02-10 00:00:00"	""	""	""	"PMID: 28106320"	"856"	"2021-03-02"
"GENCC_000101-HGNC_14686-OMIM_618824-HP_0000007-GENCC_100002"	"HGNC:14686"	"JAM2"	"MONDO:0032938"	"basal ganglia calcification, idiopathic, 8, autosomal recessive"	"OMIM:618824"	"Basal ganglia calcification, idiopathic, 8, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14686"	"JAM2"	"OMIM:618824"	"Basal ganglia calcification, idiopathic, 8, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-06-06 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14288"	"2025-01-17"
"GENCC_000101-HGNC_14203-OMIM_606438-HP_0000006-GENCC_100001"	"HGNC:14203"	"JPH3"	"MONDO:0011671"	"Huntington disease-like 2"	"OMIM:606438"	"Huntington disease-like 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14203"	"JPH3"	"OMIM:606438"	"Huntington disease-like 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:35:59"	""	""	""	"PMID: 28106320"	"74995"	"2021-03-02"
"GENCC_000101-HGNC_17933-OMIM_618974-HP_0000006-GENCC_100003"	"HGNC:17933"	"KAT8"	"MONDO:0033547"	"Li-Ghorbani-Weisz-Hubshman syndrome"	"OMIM:618974"	"Li-Ghorgani-Weisz-Hubshman syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17933"	"KAT8"	"OMIM:618974"	"Li-Ghorgani-Weisz-Hubshman syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-11-06 13:36:00"	""	""	""	"PMID: 28106320"	"50805"	"2021-03-02"
"GENCC_000101-HGNC_6217-OMIM_616212-HP_0000007-GENCC_100003"	"HGNC:6217"	"KATNB1"	"MONDO:0014534"	"lissencephaly 6 with microcephaly"	"OMIM:616212"	"Lissencephaly 6, with microcephaly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6217"	"KATNB1"	"OMIM:616212"	"Lissencephaly 6, with microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:00"	""	""	""	"PMID: 28106320"	"82922"	"2021-03-02"
"GENCC_000101-HGNC_37227-OMIM_609273-HP_0000006-GENCC_100003"	"HGNC:37227"	"KBTBD13"	"MONDO:0012237"	"nemaline myopathy 6"	"OMIM:609273"	"Nemaline myopathy 6, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:37227"	"KBTBD13"	"OMIM:609273"	"Nemaline myopathy 6, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-02 13:36:01"	""	""	""	"PMID: 28106320"	"932730"	"2021-03-02"
"GENCC_000101-HGNC_6218-OMIM_160120-HP_0000006-GENCC_100001"	"HGNC:6218"	"KCNA1"	"MONDO:0008047"	"episodic ataxia type 1"	"OMIM:160120"	"Episodic ataxia/myokymia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6218"	"KCNA1"	"OMIM:160120"	"Episodic ataxia/myokymia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-11 13:36:01"	""	""	""	"PMID: 28106320"	"9491"	"2021-03-02"
"GENCC_000101-HGNC_6222-OMIM_618284-HP_0000007-GENCC_100004"	"HGNC:6222"	"KCNA4"	"MONDO:0032656"	"microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum"	"OMIM:618284"	"Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6222"	"KCNA4"	"OMIM:618284"	"Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:36:01"	""	""	""	"PMID: 28106320"	"9493"	"2021-03-02"
"GENCC_000101-HGNC_6224-OMIM_612240-HP_0000006-GENCC_100003"	"HGNC:6224"	"KCNA5"	"MONDO:0012828"	"atrial fibrillation, familial, 7"	"OMIM:612240"	"Atrial fibrillation, familial, 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6224"	"KCNA5"	"OMIM:612240"	"Atrial fibrillation, familial, 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-06 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9185"	"2025-01-17"
"GENCC_000101-HGNC_6231-OMIM_616056-HP_0000006-GENCC_100002"	"HGNC:6231"	"KCNB1"	"MONDO:0014477"	"developmental and epileptic encephalopathy, 26"	"OMIM:616056"	"Developmental and epileptic encephalopathy 26"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6231"	"KCNB1"	"OMIM:616056"	"Developmental and epileptic encephalopathy 26"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-10-31 13:36:02"	""	""	""	"PMID: 28106320"	"9407"	"2021-03-02"
"GENCC_000101-HGNC_6233-OMIM_616187-HP_0000006-GENCC_100001"	"HGNC:6233"	"KCNC1"	"MONDO:0014521"	"progressive myoclonic epilepsy type 7"	"OMIM:616187"	"Epilepsy, progressive myoclonic 7"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6233"	"KCNC1"	"OMIM:616187"	"Epilepsy, progressive myoclonic 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-07-14 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78586"	"2024-01-02"
"GENCC_000101-HGNC_6240-OMIM_613695-HP_0000006-GENCC_100001"	"HGNC:6240"	"KCNE1"	"MONDO:0013372"	"long QT syndrome 5"	"OMIM:613695"	"Long QT syndrome 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6240"	"KCNE1"	"OMIM:613695"	"Long QT syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:36:02"	""	""	""	"PMID: 28106320"	"9479"	"2021-03-02"
"GENCC_000101-HGNC_6243-OMIM_613119-HP_0000006-GENCC_100005"	"HGNC:6243"	"KCNE3"	"MONDO:0013145"	"Brugada syndrome 6"	"OMIM:613119"	"?Brugada syndrome 6"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6243"	"KCNE3"	"OMIM:613119"	"Brugada syndrome 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2020-04-28 13:36:02"	""	""	""	"PMID: 28106320"	"82225"	"2021-03-02"
"GENCC_000101-HGNC_6251-OMIM_609620-HP_0000006-GENCC_100003"	"HGNC:6251"	"KCNH2"	"MONDO:0012312"	"short QT syndrome type 1"	"OMIM:609620"	"Short QT syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6251"	"KCNH2"	"OMIM:609620"	"Short QT syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:03"	""	""	""	"PMID: 28106320"	"9474"	"2021-03-02"
"GENCC_000101-HGNC_6251-OMIM_613688-HP_0000006-GENCC_100001"	"HGNC:6251"	"KCNH2"	"MONDO:0013367"	"long QT syndrome 2"	"OMIM:613688"	"{Long QT syndrome, acquired, reduced susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6251"	"KCNH2"	"OMIM:613688"	"Long QT syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-16 13:36:03"	""	""	""	"PMID: 28106320"	"9474"	"2021-03-02"
"GENCC_000101-HGNC_6257-OMIM_601820-HP_0000007-GENCC_100001"	"HGNC:6257"	"KCNJ11"	"MONDO:0011153"	"hyperinsulinemic hypoglycemia, familial, 2"	"OMIM:601820"	"Hyperinsulinemic hypoglycemia, familial, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6257"	"KCNJ11"	"OMIM:601820"	"Hyperinsulinemic hypoglycemia, familial, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-18 13:36:04"	""	""	""	"PMID: 28106320"	"9414"	"2021-03-02"
"GENCC_000101-HGNC_39080-OMIM_613239-HP_0000006-GENCC_100002"	"HGNC:39080"	"KCNJ18"	"MONDO:0013193"	"thyrotoxic periodic paralysis, susceptibility to, 2"	"OMIM:613239"	"{Thyrotoxic periodic paralysis, susceptibility to, 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:39080"	"KCNJ18"	"OMIM:613239"	"Thyrotoxic periodic paralysis, susceptibility to, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:36:04"	""	""	""	"PMID: 28106320"	"822890000"	"2021-03-02"
"GENCC_000101-HGNC_6266-OMIM_613485-HP_0000006-GENCC_100004"	"HGNC:6266"	"KCNJ5"	"MONDO:0013279"	"long QT syndrome 13"	"OMIM:613485"	"Long QT syndrome 13"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6266"	"KCNJ5"	"OMIM:613485"	"Long QT syndrome 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-30 13:36:05"	""	""	""	"PMID: 28106320"	"9416"	"2021-03-02"
"GENCC_000101-HGNC_6266-OMIM_613677-HP_0000006-GENCC_100003"	"HGNC:6266"	"KCNJ5"	"MONDO:0013359"	"familial hyperaldosteronism type III"	"OMIM:613677"	"Hyperaldosteronism, familial, type III"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6266"	"KCNJ5"	"OMIM:613677"	"Hyperaldosteronism, familial, type III"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-30 13:36:05"	""	""	""	"PMID: 28106320"	"9416"	"2021-03-02"
"GENCC_000101-HGNC_6267-OMIM_614098-HP_0000006-GENCC_100003"	"HGNC:6267"	"KCNJ6"	"MONDO:0013572"	"Keppen-Lubinsky syndrome"	"OMIM:614098"	"Keppen-Lubinsky syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6267"	"KCNJ6"	"OMIM:614098"	"Keppen-Lubinsky syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-04 13:36:05"	""	""	""	"PMID: 28106320"	"9419"	"2021-03-02"
"GENCC_000101-HGNC_19439-OMIM_613656-HP_0000006-GENCC_100004"	"HGNC:19439"	"KCNK18"	"MONDO:0013344"	"migraine, with or without aura, susceptibility to, 13"	"OMIM:613656"	"{Migraine, with or without aura, susceptibility to, 13}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19439"	"KCNK18"	"OMIM:613656"	"Migraine, with or without aura, susceptibility to, 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:06"	""	""	""	"PMID: 28106320"	"995714"	"2021-03-02"
"GENCC_000101-HGNC_6279-OMIM_618381-HP_0000006-GENCC_100003"	"HGNC:6279"	"KCNK4"	"MONDO:0032714"	"facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"	"OMIM:618381"	"Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6279"	"KCNK4"	"OMIM:618381"	"Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-05 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11150"	"2025-01-17"
"GENCC_000101-HGNC_6283-OMIM_612292-HP_0000006-GENCC_100003"	"HGNC:6283"	"KCNK9"	"MONDO:0012856"	"Birk-Barel syndrome"	"OMIM:612292"	"Birk-Barel syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6283"	"KCNK9"	"OMIM:612292"	"Birk-Barel mental retardation dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-31 13:36:06"	""	""	""	"PMID: 28106320"	"78927"	"2021-03-02"
"GENCC_000101-HGNC_6284-OMIM_609446-HP_0000006-GENCC_100001"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"OMIM:609446"	"Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6284"	"KCNMA1"	"OMIM:609446"	"Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-01 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63832"	"2025-01-17"
"GENCC_000101-HGNC_6284-OMIM_618729-HP_0000006-GENCC_100002"	"HGNC:6284"	"KCNMA1"	"MONDO:0032886"	"Liang-Wang syndrome"	"OMIM:618729"	"Liang-Wang syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6284"	"KCNMA1"	"OMIM:618729"	"Liang-Wang syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-04-01 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11548"	"2025-01-17"
"GENCC_000101-HGNC_6293-OMIM_616689-HP_0000006-GENCC_100003"	"HGNC:6293"	"KCNN4"	"MONDO:0014737"	"dehydrated hereditary stomatocytosis 2"	"OMIM:616689"	"Dehydrated hereditary stomatocytosis 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6293"	"KCNN4"	"OMIM:616689"	"Dehydrated hereditary stomatocytosis 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:07"	""	""	""	"PMID: 28106320"	"9459"	"2021-03-02"
"GENCC_000101-HGNC_6297-OMIM_121201-HP_0000006-GENCC_100003"	"HGNC:6297"	"KCNQ3"	"MONDO:0007366"	"seizures, benign familial neonatal, 2"	"OMIM:121201"	"Seizures, benign neonatal, 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6297"	"KCNQ3"	"OMIM:121201"	"Seizures, benign neonatal, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:08"	""	""	""	"PMID: 28106320"	"9451"	"2021-03-02"
"GENCC_000101-HGNC_18865-OMIM_614959-HP_0000006-GENCC_100003"	"HGNC:18865"	"KCNT1"	"MONDO:0013989"	"developmental and epileptic encephalopathy, 14"	"OMIM:614959"	"Developmental and epileptic encephalopathy 14"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18865"	"KCNT1"	"OMIM:614959"	"Developmental and epileptic encephalopathy 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-07 13:36:08"	""	""	""	"PMID: 28106320"	"74756"	"2021-03-02"
"GENCC_000101-HGNC_18865-OMIM_615005-HP_0000006-GENCC_100003"	"HGNC:18865"	"KCNT1"	"MONDO:0014002"	"autosomal dominant nocturnal frontal lobe epilepsy 5"	"OMIM:615005"	"Epilepsy nocturnal frontal lobe, 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18865"	"KCNT1"	"OMIM:615005"	"Epilepsy nocturnal frontal lobe, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-07 13:36:08"	""	""	""	"PMID: 28106320"	"74756"	"2021-03-02"
"GENCC_000101-HGNC_25705-OMIM_616398-HP_0000006-GENCC_100004"	"HGNC:25705"	"KCTD17"	"MONDO:0014620"	"myoclonic dystonia 26"	"OMIM:616398"	"Dystonia 26, myoclonic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25705"	"KCTD17"	"OMIM:616398"	"Dystonia 26, myoclonic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-28 13:36:09"	""	""	""	"PMID: 28106320"	"43490"	"2021-03-02"
"GENCC_000101-HGNC_21957-OMIM_611726-HP_0000007-GENCC_100003"	"HGNC:21957"	"KCTD7"	"MONDO:0012721"	"progressive myoclonic epilepsy type 3"	"OMIM:611726"	"Epilepsy, progressive myoclonic 3, with or without intracellular inclusions"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21957"	"KCTD7"	"OMIM:611726"	"Epilepsy, progressive myoclonic 3, with or without intracellular inclusions"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-30 13:36:09"	""	""	""	"PMID: 28106320"	"870558"	"2021-03-02"
"GENCC_000101-HGNC_12637-OMIM_300867-HP_0001417-GENCC_100002"	"HGNC:12637"	"KDM6A"	"MONDO:0010465"	"Kabuki syndrome 2"	"OMIM:300867"	"Kabuki syndrome 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12637"	"KDM6A"	"OMIM:300867"	"Kabuki syndrome 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:36:09"	""	""	""	"PMID: 28106320"	"4029"	"2021-03-02"
"GENCC_000101-HGNC_29012-OMIM_618505-HP_0000006-GENCC_100002"	"HGNC:29012"	"KDM6B"	"MONDO:0032790"	"neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities"	"OMIM:618505"	"Stolerman neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29012"	"KDM6B"	"OMIM:618505"	"Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-07-26 13:36:10"	""	""	""	"PMID: 28106320"	"69897"	"2021-03-02"
"GENCC_000101-HGNC_19960-OMIM_616490-HP_0000007-GENCC_100002"	"HGNC:19960"	"KIAA0586"	"MONDO:0014664"	"Joubert syndrome 23"	"OMIM:616490"	"Joubert syndrome 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19960"	"KIAA0586"	"OMIM:616490"	"Joubert syndrome 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-18 13:36:10"	""	""	""	"PMID: 28106320"	"3451"	"2021-03-02"
"GENCC_000101-HGNC_19960-OMIM_616546-HP_0000007-GENCC_100003"	"HGNC:19960"	"KIAA0586"	"MONDO:0014688"	"short-rib thoracic dysplasia 14 with polydactyly"	"OMIM:616546"	"Short-rib thoracic dysplasia 14 with polydactyly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19960"	"KIAA0586"	"OMIM:616546"	"Short-rib thoracic dysplasia 14 with polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-18 13:36:10"	""	""	""	"PMID: 28106320"	"3451"	"2021-03-02"
"GENCC_000101-HGNC_29110-OMIM_617127-HP_0000007-GENCC_100002"	"HGNC:29110"	"KIAA0753"	"MONDO:0014932"	"orofaciodigital syndrome XV"	"OMIM:617127"	"?Orofaciodigital syndrome XV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29110"	"KIAA0753"	"OMIM:617127"	"Orofaciodigital syndrome XV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-12-30 13:36:11"	""	""	""	"PMID: 28106320"	"3578"	"2021-03-02"
"GENCC_000101-HGNC_28532-OMIM_618498-HP_0000007-GENCC_100004"	"HGNC:28532"	"KIAA0825"	"MONDO:0032785"	"polydactyly, postaxial, type a10"	"OMIM:618498"	"Polydactyly, postaxial, type A10"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28532"	"KIAA0825"	"OMIM:618498"	"Polydactyly, postaxial, type A10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-06-27 13:36:11"	""	""	""	"PMID: 28106320"	"657122"	"2021-03-02"
"GENCC_000101-HGNC_22219-OMIM_618613-HP_0000007-GENCC_100003"	"HGNC:22219"	"KIAA1549"	"MONDO:0032834"	"retinitis pigmentosa 86"	"OMIM:618613"	"Retinitis pigmentosa 86"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22219"	"KIAA1549"	"OMIM:618613"	"Retinitis pigmentosa 86"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-29 13:36:12"	""	""	""	"PMID: 28106320"	"74142"	"2021-03-02"
"GENCC_000101-HGNC_6388-OMIM_152950-HP_0000006-GENCC_100002"	"HGNC:6388"	"KIF11"	"MONDO:0007918"	"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	"OMIM:152950"	"Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6388"	"KIF11"	"OMIM:152950"	"Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:36:12"	""	""	""	"PMID: 28106320"	"9596"	"2021-03-02"
"GENCC_000101-HGNC_6317-OMIM_611302-HP_0000007-GENCC_100003"	"HGNC:6317"	"KIF1C"	"MONDO:0012651"	"spastic ataxia 2"	"OMIM:611302"	"Spastic ataxia 2, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6317"	"KIF1C"	"OMIM:611302"	"Spastic ataxia 2, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-02 13:36:13"	""	""	""	"PMID: 28106320"	"82403"	"2021-03-02"
"GENCC_000101-HGNC_6320-OMIM_618955-HP_0000006-GENCC_100004"	"HGNC:6320"	"KIF3B"	"MONDO:0030071"	"retinitis pigmentosa 89"	"OMIM:618955"	"Retinitis pigmentosa 89"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6320"	"KIF3B"	"OMIM:618955"	"Retinitis pigmentosa 89"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-15 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14238"	"2025-01-17"
"GENCC_000101-HGNC_6323-OMIM_617235-HP_0000006-GENCC_100004"	"HGNC:6323"	"KIF5A"	"MONDO:0014979"	"myoclonus, intractable, neonatal"	"OMIM:617235"	"Myoclonus, intractable, neonatal"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6323"	"KIF5A"	"OMIM:617235"	"Myoclonus, intractable, neonatal"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-22 13:36:14"	""	""	""	"PMID: 28106320"	"9435"	"2021-03-02"
"GENCC_000101-HGNC_6323-OMIM_604187-HP_0000006-GENCC_100002"	"HGNC:6323"	"KIF5A"	"MONDO:0011408"	"hereditary spastic paraplegia 10"	"OMIM:604187"	"Spastic paraplegia 10, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6323"	"KIF5A"	"OMIM:604187"	"Spastic paraplegia 10, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2016-02-29 00:00:00"	""	""	""	"PMID: 28106320"	"9435"	"2021-03-02"
"GENCC_000101-HGNC_30497-OMIM_200990-HP_0000007-GENCC_100003"	"HGNC:30497"	"KIF7"	"MONDO:0008708"	"acrocallosal syndrome"	"OMIM:200990"	"Acrocallosal syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30497"	"KIF7"	"OMIM:200990"	"Acrocallosal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-05-30 00:00:00"	""	""	""	"PMID: 28106320"	"940170"	"2021-03-02"
"GENCC_000101-HGNC_4510-OMIM_176400-HP_0000006-GENCC_100004"	"HGNC:4510"	"KISS1R"	"MONDO:0008302"	"central precocious puberty 1"	"OMIM:176400"	"?Precocious puberty, central, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4510"	"KISS1R"	"OMIM:176400"	"Precocious puberty, central, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-19 13:36:15"	""	""	""	"PMID: 28106320"	"50190"	"2021-03-02"
"GENCC_000101-HGNC_4510-OMIM_614837-HP_0000007-GENCC_100001"	"HGNC:4510"	"KISS1R"	"MONDO:0013910"	"hypogonadotropic hypogonadism 8 with or without anosmia"	"OMIM:614837"	"Hypogonadotropic hypogonadism 8 with or without anosmia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4510"	"KISS1R"	"OMIM:614837"	"Hypogonadotropic hypogonadism 8 with or without anosmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-19 13:36:16"	""	""	""	"PMID: 28106320"	"50190"	"2021-03-02"
"GENCC_000101-HGNC_6344-OMIM_617994-HP_0000007-GENCC_100004"	"HGNC:6344"	"KL"	"MONDO:0060715"	"tumoral calcinosis, hyperphosphatemic, familial, 3"	"OMIM:617994"	"?Tumoral calcinosis, hyperphosphatemic, familial, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6344"	"KL"	"OMIM:617994"	"Tumoral calcinosis, hyperphosphatemic, familial, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:16"	""	""	""	"PMID: 28106320"	"3917"	"2021-03-02"
"GENCC_000101-HGNC_20716-OMIM_609541-HP_0000007-GENCC_100004"	"HGNC:20716"	"KLC2"	"MONDO:0012297"	"spastic paraplegia, optic atropy, and neuropathy"	"OMIM:609541"	"Spastic paraplegia, optic atrophy, and neuropathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20716"	"KLC2"	"OMIM:609541"	"Spastic paraplegia, optic atrophy, and neuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:16"	""	""	""	"PMID: 28106320"	"10594"	"2021-03-02"
"GENCC_000101-HGNC_25947-OMIM_617294-HP_0000006-GENCC_100003"	"HGNC:25947"	"KLHL24"	"MONDO:0015006"	"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"	"OMIM:617294"	"Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25947"	"KLHL24"	"OMIM:617294"	"Epidermolysis bullosa simplex, generalized, with scarring and hair loss"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:36:16"	""	""	""	"PMID: 28106320"	"70522"	"2021-03-02"
"GENCC_000101-HGNC_30372-OMIM_615348-HP_0000007-GENCC_100003"	"HGNC:30372"	"KLHL40"	"MONDO:0014138"	"nemaline myopathy 8"	"OMIM:615348"	"Nemaline myopathy 8, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30372"	"KLHL40"	"OMIM:615348"	"Nemaline myopathy 8, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:17"	""	""	""	"PMID: 28106320"	"898944"	"2021-03-02"
"GENCC_000101-HGNC_15646-OMIM_612943-HP_0000006-GENCC_100003"	"HGNC:15646"	"KLHL7"	"MONDO:0013052"	"retinitis pigmentosa 42"	"OMIM:612943"	"Retinitis pigmentosa 42"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15646"	"KLHL7"	"OMIM:612943"	"Retinitis pigmentosa 42"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:17"	""	""	""	"PMID: 28106320"	"77347"	"2021-03-02"
"GENCC_000101-HGNC_15646-OMIM_617055-HP_0000007-GENCC_100003"	"HGNC:15646"	"KLHL7"	"MONDO:0014890"	"PERCHING syndrome"	"OMIM:617055"	"PERCHING syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15646"	"KLHL7"	"OMIM:617055"	"PERCHING syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-27 13:36:18"	""	""	""	"PMID: 28106320"	"77347"	"2021-03-02"
"GENCC_000101-HGNC_6365-OMIM_204700-HP_0000007-GENCC_100003"	"HGNC:6365"	"KLK4"	"MONDO:0008772"	"amelogenesis imperfecta type 2A1"	"OMIM:204700"	"Amelogenesis imperfecta, type IIA1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6365"	"KLK4"	"OMIM:204700"	"Amelogenesis imperfecta, type IIA1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:36:18"	""	""	""	"PMID: 28106320"	"3166"	"2021-03-02"
"GENCC_000101-HGNC_37212-OMIM_615107-HP_0000005-GENCC_100008"	"HGNC:37212"	"KLLN"	"MONDO:0014046"	"Cowden syndrome 4"	"OMIM:615107"	"Cowden syndrome 4"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:37212"	"KLLN"	"OMIM:615107"	"Cowden syndrome 4"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-08-31 13:36:19"	""	""	""	"PMID: 28106320"	"822800405"	"2021-03-02"
"GENCC_000101-HGNC_15840-OMIM_617284-HP_0000006-GENCC_100001"	"HGNC:15840"	"KMT2B"	"MONDO:0015004"	"dystonia 28, childhood-onset"	"OMIM:617284"	"Dystonia 28, childhood-onset"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15840"	"KMT2B"	"OMIM:617284"	"Dystonia 28, childhood-onset"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-05-22 00:00:00"	""	""	""	"PMID: 28106320"	"3474"	"2021-03-02"
"GENCC_000101-HGNC_7133-OMIM_147920-HP_0000006-GENCC_100001"	"HGNC:7133"	"KMT2D"	"MONDO:0007843"	"Kabuki syndrome 1"	"OMIM:147920"	"Kabuki syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7133"	"KMT2D"	"OMIM:147920"	"Kabuki syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-10-22 00:00:00"	""	""	""	"PMID: 28106320"	"5257"	"2021-03-02"
"GENCC_000101-HGNC_18541-OMIM_618512-HP_0000006-GENCC_100003"	"HGNC:18541"	"KMT2E"	"MONDO:0032793"	"O'Donnell-Luria-Rodan syndrome"	"OMIM:618512"	"O'Donnell-Luria-Rodan syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18541"	"KMT2E"	"OMIM:618512"	"ODonnell-Luria-Rodan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-28 13:36:19"	""	""	""	"PMID: 28106320"	"77320"	"2021-03-02"
"GENCC_000101-HGNC_24054-OMIM_604321-HP_0000007-GENCC_100003"	"HGNC:24054"	"KNL1"	"MONDO:0011437"	"microcephaly 4, primary, autosomal recessive"	"OMIM:604321"	"Microcephaly 4, primary, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24054"	"KNL1"	"OMIM:604321"	"Microcephaly 4, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:19"	""	""	""	"PMID: 28106320"	"74256"	"2021-03-02"
"GENCC_000101-HGNC_6407-OMIM_615278-HP_0000006-GENCC_100003"	"HGNC:6407"	"KRAS"	"MONDO:0014112"	"cardiofaciocutaneous syndrome 2"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6407"	"KRAS"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-10-16 00:00:00"	""	""	""	"PMID: 28106320"	"9507"	"2021-03-02"
"GENCC_000101-HGNC_6407-OMIM_609942-HP_0000006-GENCC_100001"	"HGNC:6407"	"KRAS"	"MONDO:0012371"	"Noonan syndrome 3"	"OMIM:609942"	"Noonan syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6407"	"KRAS"	"OMIM:609942"	"Noonan syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-10-16 00:00:00"	""	""	""	"PMID: 28106320"	"9507"	"2021-03-02"
"GENCC_000101-HGNC_17550-OMIM_617392-HP_0000007-GENCC_100003"	"HGNC:17550"	"KREMEN1"	"MONDO:0044305"	"ectodermal dysplasia 13, hair/tooth type"	"OMIM:617392"	"Ectodermal dysplasia 13, hair/tooth type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17550"	"KREMEN1"	"OMIM:617392"	"Ectodermal dysplasia 13, hair/tooth type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-10-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18226"	"2023-08-19"
"GENCC_000101-HGNC_1573-OMIM_116860-HP_0000006-GENCC_100001"	"HGNC:1573"	"KRIT1"	"MONDO:0020724"	"cerebral cavernous malformation 1"	"OMIM:116860"	"Cavernous malformations of CNS and retina"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1573"	"KRIT1"	"OMIM:116860"	"Cavernous malformations of CNS and retina"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-29 13:36:20"	""	""	""	"PMID: 28106320"	"553"	"2021-03-02"
"GENCC_000101-HGNC_6416-OMIM_131760-HP_0000006-GENCC_100001"	"HGNC:6416"	"KRT14"	"MONDO:0007550"	"epidermolysis bullosa simplex 1A, generalized severe"	"OMIM:131760"	"Epidermolysis bullosa simplex 1A, generalized severe"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6416"	"KRT14"	"OMIM:131760"	"Epidermolysis bullosa simplex, Dowling-Meara type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-08-15 00:00:00"	""	""	""	"PMID: 28106320"	"9518"	"2021-03-02"
"GENCC_000101-HGNC_6416-OMIM_161000-HP_0000006-GENCC_100004"	"HGNC:6416"	"KRT14"	"MONDO:0008059"	"Naegeli-Franceschetti-Jadassohn syndrome"	"OMIM:161000"	"Naegeli-Franceschetti-Jadassohn syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6416"	"KRT14"	"OMIM:161000"	"Naegeli-Franceschetti-Jadassohn syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-20 13:36:20"	""	""	""	"PMID: 28106320"	"9518"	"2021-03-02"
"GENCC_000101-HGNC_6423-OMIM_167200-HP_0000006-GENCC_100002"	"HGNC:6423"	"KRT16"	"MONDO:0008173"	"pachyonychia congenita 1"	"OMIM:167200"	"Pachyonychia congenita 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6423"	"KRT16"	"OMIM:167200"	"Pachyonychia congenita 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:36:20"	""	""	""	"PMID: 28106320"	"9515"	"2021-03-02"
"GENCC_000101-HGNC_6423-OMIM_613000-HP_0000006-GENCC_100003"	"HGNC:6423"	"KRT16"	"MONDO:0013073"	"palmoplantar keratoderma, nonepidermolytic, focal 1"	"OMIM:613000"	"Palmoplantar keratoderma, nonepidermolytic, focal"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6423"	"KRT16"	"OMIM:613000"	"Palmoplantar keratoderma, nonepidermolytic, focal"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:20"	""	""	""	"PMID: 28106320"	"9515"	"2021-03-02"
"GENCC_000101-HGNC_6439-OMIM_146800-HP_0000006-GENCC_100002"	"HGNC:6439"	"KRT2"	"MONDO:0007813"	"superficial epidermolytic ichthyosis"	"OMIM:146800"	"Ichthyosis bullosa of Siemens"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6439"	"KRT2"	"OMIM:146800"	"Ichthyosis bullosa of Siemens"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-26 13:36:20"	""	""	""	"PMID: 28106320"	"9503"	"2021-03-02"
"GENCC_000101-HGNC_6441-OMIM_193900-HP_0000006-GENCC_100003"	"HGNC:6441"	"KRT4"	"MONDO:0008676"	"white sponge nevus 1"	"OMIM:193900"	"White sponge nevus 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6441"	"KRT4"	"OMIM:193900"	"White sponge nevus 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-14 13:36:21"	""	""	""	"PMID: 28106320"	"9578"	"2021-03-02"
"GENCC_000101-HGNC_6442-OMIM_179850-HP_0000006-GENCC_100003"	"HGNC:6442"	"KRT5"	"MONDO:0024534"	"Dowling-Degos disease 1"	"OMIM:179850"	"Dowling-Degos disease 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6442"	"KRT5"	"OMIM:179850"	"Dowling-Degos disease 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-11 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9592"	"2025-01-17"
"GENCC_000101-HGNC_6442-OMIM_131760-HP_0000006-GENCC_100001"	"HGNC:6442"	"KRT5"	"MONDO:0007550"	"epidermolysis bullosa simplex 1A, generalized severe"	"OMIM:131760"	"Epidermolysis bullosa simplex 1A, generalized severe"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6442"	"KRT5"	"OMIM:131760"	"Epidermolysis bullosa simplex, Dowling-Meara type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:36:21"	""	""	""	"PMID: 28106320"	"9576"	"2021-03-02"
"GENCC_000101-HGNC_6444-OMIM_615728-HP_0000006-GENCC_100003"	"HGNC:6444"	"KRT6B"	"MONDO:0014325"	"pachyonychia congenita 4"	"OMIM:615728"	"Pachyonychia congenita 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6444"	"KRT6B"	"OMIM:615728"	"Pachyonychia congenita 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:21"	""	""	""	"PMID: 28106320"	"9570"	"2021-03-02"
"GENCC_000101-HGNC_20406-OMIM_615735-HP_0000006-GENCC_100003"	"HGNC:20406"	"KRT6C"	"MONDO:0014327"	"palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"OMIM:615735"	"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20406"	"KRT6C"	"OMIM:615735"	"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:21"	""	""	""	"PMID: 28106320"	"651554"	"2021-03-02"
"GENCC_000101-HGNC_28927-OMIM_615896-HP_0000006-GENCC_100004"	"HGNC:28927"	"KRT71"	"MONDO:0014390"	"hypotrichosis 13"	"OMIM:615896"	"?Hypotrichosis 13"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28927"	"KRT71"	"OMIM:615896"	"Hypotrichosis 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-19 13:36:22"	""	""	""	"PMID: 28106320"	"886526"	"2021-03-02"
"GENCC_000101-HGNC_6447-OMIM_144200-HP_0000006-GENCC_100001"	"HGNC:6447"	"KRT9"	"MONDO:0007758"	"epidermolytic palmoplantar keratoderma, 1"	"OMIM:144200"	"Palmoplantar keratoderma, epidermolytic, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6447"	"KRT9"	"OMIM:144200"	"Palmoplantar keratoderma, epidermolytic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-07 13:36:22"	""	""	""	"PMID: 28106320"	"9574"	"2021-03-02"
"GENCC_000101-HGNC_6469-OMIM_236800-HP_0000007-GENCC_100004"	"HGNC:6469"	"KYNU"	"MONDO:0009372"	"encephalopathy due to hydroxykynureninuria"	"OMIM:236800"	"?Hydroxykynureninuria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6469"	"KYNU"	"OMIM:236800"	"Hydroxykynureninuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-19 13:36:22"	""	""	""	"PMID: 28106320"	"5306"	"2021-03-02"
"GENCC_000101-HGNC_20499-OMIM_236792-HP_0000007-GENCC_100001"	"HGNC:20499"	"L2HGDH"	"MONDO:0009370"	"L-2-hydroxyglutaric aciduria"	"OMIM:236792"	"L-2-hydroxyglutaric aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20499"	"L2HGDH"	"OMIM:236792"	"L-2-hydroxyglutaric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-17 13:36:22"	""	""	""	"PMID: 28106320"	"43300"	"2021-03-02"
"GENCC_000101-HGNC_26789-OMIM_618795-HP_0000007-GENCC_100004"	"HGNC:26789"	"LACC1"	"MONDO:0032920"	"juvenile arthritis due to defect in LACC1"	"OMIM:618795"	"Juvenile arthritis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26789"	"LACC1"	"OMIM:618795"	"Juvenile arthritis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-27 13:36:23"	""	""	""	"PMID: 28106320"	"800588"	"2021-03-02"
"GENCC_000101-HGNC_6484-OMIM_615235-HP_0000006-GENCC_100003"	"HGNC:6484"	"LAMA4"	"MONDO:0014095"	"dilated cardiomyopathy 1JJ"	"OMIM:615235"	"Cardiomyopathy, dilated, 1JJ"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6484"	"LAMA4"	"OMIM:615235"	"Cardiomyopathy, dilated, 1JJ"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-30 13:36:23"	""	""	""	"PMID: 28106320"	"9382"	"2021-03-02"
"GENCC_000101-HGNC_6486-OMIM_615191-HP_0000007-GENCC_100003"	"HGNC:6486"	"LAMB1"	"MONDO:0014077"	"cobblestone lissencephaly without muscular or ocular involvement"	"OMIM:615191"	"Lissencephaly 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6486"	"LAMB1"	"OMIM:615191"	"Lissencephaly 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-14 13:36:23"	""	""	""	"PMID: 28106320"	"9386"	"2021-03-02"
"GENCC_000101-HGNC_6494-OMIM_614115-HP_0000007-GENCC_100003"	"HGNC:6494"	"LAMC3"	"MONDO:0013583"	"occipital pachygyria and polymicrogyria"	"OMIM:614115"	"Cortical malformations, occipital"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6494"	"LAMC3"	"OMIM:614115"	"Cortical malformations, occipital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-09-17 13:36:23"	""	""	""	"PMID: 28106320"	"82983"	"2021-03-02"
"GENCC_000101-HGNC_25726-OMIM_309585-HP_0001417-GENCC_100004"	"HGNC:25726"	"LAS1L"	"MONDO:0010665"	"Wilson-Turner syndrome"	"OMIM:309585"	"Wilson-Turner syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25726"	"LAS1L"	"OMIM:309585"	"Wilson-Turner syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"77777"	"2023-08-19"
"GENCC_000101-HGNC_31923-OMIM_604537-HP_0000007-GENCC_100001"	"HGNC:31923"	"LCA5"	"MONDO:0011473"	"Leber congenital amaurosis 5"	"OMIM:604537"	"Leber congenital amaurosis 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31923"	"LCA5"	"OMIM:604537"	"Leber congenital amaurosis 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-13 13:36:24"	""	""	""	"PMID: 28106320"	"814138"	"2021-03-02"
"GENCC_000101-HGNC_15710-OMIM_609452-HP_0000006-GENCC_100003"	"HGNC:15710"	"LDB3"	"MONDO:0012277"	"myofibrillar myopathy 4"	"OMIM:609452"	"Myopathy, myofibrillar, 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15710"	"LDB3"	"OMIM:609452"	"Myopathy, myofibrillar, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-20 13:36:25"	""	""	""	"PMID: 28106320"	"88877"	"2021-03-02"
"GENCC_000101-HGNC_21244-OMIM_212500-HP_0000007-GENCC_100004"	"HGNC:21244"	"LEMD2"	"MONDO:0008925"	"cataract 46 juvenile-onset"	"OMIM:212500"	"Cataract 46, juvenile-onset"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21244"	"LEMD2"	"OMIM:212500"	"Cataract 46, juvenile-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-12-08 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73914"	"2025-01-17"
"GENCC_000101-HGNC_6560-OMIM_609813-HP_0000007-GENCC_100003"	"HGNC:6560"	"LFNG"	"MONDO:0012349"	"spondylocostal dysostosis 3, autosomal recessive"	"OMIM:609813"	"Spondylocostal dysostosis 3, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6560"	"LFNG"	"OMIM:609813"	"Spondylocostal dysostosis 3, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-21 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78154"	"2024-01-02"
"GENCC_000101-HGNC_16084-OMIM_616827-HP_0000007-GENCC_100004"	"HGNC:16084"	"LIMS2"	"MONDO:0014788"	"autosomal recessive limb-girdle muscular dystrophy type 2W"	"OMIM:616827"	"?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16084"	"LIMS2"	"OMIM:616827"	"Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:26"	""	""	""	"PMID: 28106320"	"77143"	"2021-03-02"
"GENCC_000101-HGNC_21205-OMIM_618103-HP_0000007-GENCC_100004"	"HGNC:21205"	"LINGO1"	"MONDO:0020846"	"intellectual disability, autosomal recessive 64"	"OMIM:618103"	"Intellectual developmental disorder, autosomal recessive 64"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21205"	"LINGO1"	"OMIM:618103"	"Mental retardation, autosomal recessive 64"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-17 13:36:26"	""	""	""	"PMID: 28106320"	"50530"	"2021-03-02"
"GENCC_000101-HGNC_6617-OMIM_278000-HP_0000007-GENCC_100001"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"OMIM:278000"	"Cholesteryl ester storage disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6617"	"LIPA"	"OMIM:278000"	"Cholesteryl ester storage disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-01 13:36:27"	""	""	""	"PMID: 28106320"	"9355"	"2021-03-02"
"GENCC_000101-HGNC_19263-OMIM_616887-HP_0000007-GENCC_100004"	"HGNC:19263"	"LMAN2L"	"MONDO:0014815"	"intellectual disability, autosomal recessive 52"	"OMIM:616887"	"?Intellectual developmental disorder, autosomal recessive 52"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19263"	"LMAN2L"	"OMIM:616887"	"Mental retardation, autosomal recessive, 52"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:27"	""	""	""	"PMID: 28106320"	"58716"	"2021-03-02"
"GENCC_000101-HGNC_23038-OMIM_277380-HP_0000007-GENCC_100002"	"HGNC:23038"	"LMBRD1"	"MONDO:0010183"	"methylmalonic aciduria and homocystinuria type cblF"	"OMIM:277380"	"Methylmalonic aciduria and homocystinuria, cblF type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23038"	"LMBRD1"	"OMIM:277380"	"Methylmalonic aciduria and homocystinuria, cblF type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:36:27"	""	""	""	"PMID: 28106320"	"77455"	"2021-03-02"
"GENCC_000101-HGNC_14154-OMIM_246650-HP_0000007-GENCC_100003"	"HGNC:14154"	"LMF1"	"MONDO:0009527"	"lipase deficiency, combined"	"OMIM:246650"	"Lipase deficiency, combined"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14154"	"LMF1"	"OMIM:246650"	"Lipase deficiency, combined"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-20 13:36:28"	""	""	""	"PMID: 28106320"	"10455"	"2021-03-02"
"GENCC_000101-HGNC_6638-OMIM_616540-HP_0000007-GENCC_100004"	"HGNC:6638"	"LMNB2"	"MONDO:0014685"	"progressive myoclonic epilepsy type 9"	"OMIM:616540"	"?Epilepsy, progressive myoclonic, 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6638"	"LMNB2"	"OMIM:616540"	"Epilepsy, progressive myoclonic, 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:28"	""	""	""	"PMID: 28106320"	"50569"	"2021-03-02"
"GENCC_000101-HGNC_15520-OMIM_278150-HP_0000007-GENCC_100002"	"HGNC:15520"	"LPAR6"	"MONDO:0010206"	"hypotrichosis 8"	"OMIM:278150"	"Woolly hair, autosomal recessive 1, with or without hypotrichosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15520"	"LPAR6"	"OMIM:278150"	"Woolly hair, autosomal recessive 1, with or without hypotrichosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-06-13 13:36:29"	""	""	""	"PMID: 28106320"	"82818"	"2021-03-02"
"GENCC_000101-HGNC_6696-OMIM_614305-HP_0032113-GENCC_100004"	"HGNC:6696"	"LRP4"	"MONDO:0013679"	"sclerosteosis 2"	"OMIM:614305"	"Sclerosteosis 2"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6696"	"LRP4"	"OMIM:614305"	"Sclerosteosis 2"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-19 13:36:29"	""	""	""	"PMID: 28106320"	"0295"	"2021-03-02"
"GENCC_000101-HGNC_6696-OMIM_212780-HP_0000007-GENCC_100002"	"HGNC:6696"	"LRP4"	"MONDO:0008931"	"Cenani-Lenz syndactyly syndrome"	"OMIM:212780"	"Cenani-Lenz syndactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6696"	"LRP4"	"OMIM:212780"	"Cenani-Lenz syndactyly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-19 13:36:30"	""	""	""	"PMID: 28106320"	"0295"	"2021-03-02"
"GENCC_000101-HGNC_6697-OMIM_601813-HP_0032113-GENCC_100001"	"HGNC:6697"	"LRP5"	"MONDO:0011151"	"exudative vitreoretinopathy 4"	"OMIM:601813"	"Exudative vitreoretinopathy 4"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6697"	"LRP5"	"OMIM:601813"	"Exudative vitreoretinopathy 4"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-02-20 00:00:00"	""	""	""	"PMID: 28106320"	"0208"	"2021-03-02"
"GENCC_000101-HGNC_6697-OMIM_607634-HP_0000006-GENCC_100003"	"HGNC:6697"	"LRP5"	"MONDO:0011877"	"autosomal dominant osteopetrosis 1"	"OMIM:607634"	"Osteopetrosis, autosomal dominant 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6697"	"LRP5"	"OMIM:607634"	"Osteopetrosis, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-11-04 13:36:30"	""	""	""	"PMID: 28106320"	"0208"	"2021-03-02"
"GENCC_000101-HGNC_6697-OMIM_259770-HP_0000007-GENCC_100001"	"HGNC:6697"	"LRP5"	"MONDO:0009820"	"osteoporosis-pseudoglioma syndrome"	"OMIM:259770"	"Osteoporosis-pseudoglioma syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6697"	"LRP5"	"OMIM:259770"	"Osteoporosis-pseudoglioma syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-02-20 00:00:00"	""	""	""	"PMID: 28106320"	"0208"	"2021-03-02"
"GENCC_000101-HGNC_16725-OMIM_614935-HP_0000007-GENCC_100002"	"HGNC:16725"	"DNAAF11"	"MONDO:0013979"	"primary ciliary dyskinesia 19"	"OMIM:614935"	"Ciliary dyskinesia, primary, 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16725"	"LRRC6"	"OMIM:614935"	"Ciliary dyskinesia, primary, 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-30 13:36:30"	""	""	""	"PMID: 28106320"	"69193"	"2021-03-02"
"GENCC_000101-HGNC_25033-OMIM_611451-HP_0000007-GENCC_100003"	"HGNC:25033"	"LRTOMT"	"MONDO:0012670"	"autosomal recessive nonsyndromic hearing loss 63"	"OMIM:611451"	"Deafness, autosomal recessive 63"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25033"	"LRTOMT"	"OMIM:611451"	"Deafness, autosomal recessive 63"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-29 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67429"	"2024-01-02"
"GENCC_000101-HGNC_6708-OMIM_616509-HP_0000007-GENCC_100004"	"HGNC:6708"	"LSS"	"MONDO:0014673"	"cataract 44"	"OMIM:616509"	"Cataract 44"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6708"	"LSS"	"OMIM:616509"	"Cataract 44"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2017-10-16 00:00:00"	""	""	""	"PMID: 28106320"	"0204"	"2021-03-02"
"GENCC_000101-HGNC_6708-OMIM_618275-HP_0000007-GENCC_100003"	"HGNC:6708"	"LSS"	"MONDO:0032649"	"hypotrichosis 14"	"OMIM:618275"	"Hypotrichosis 14"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6708"	"LSS"	"OMIM:618275"	"Hypotrichosis 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-09-25 13:36:31"	""	""	""	"PMID: 28106320"	"0204"	"2021-03-02"
"GENCC_000101-HGNC_6715-OMIM_614819-HP_0000007-GENCC_100003"	"HGNC:6715"	"LTBP2"	"MONDO:0013899"	"Weill-Marchesani syndrome 3"	"OMIM:614819"	"?Weill-Marchesani syndrome 3, recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6715"	"LTBP2"	"OMIM:614819"	"Weill-Marchesani syndrome 3, recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-10-22 00:00:00"	""	""	""	"PMID: 28106320"	"0279"	"2021-03-02"
"GENCC_000101-HGNC_6715-OMIM_251750-HP_0000007-GENCC_100003"	"HGNC:6715"	"LTBP2"	"MONDO:0009633"	"microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"	"OMIM:251750"	"Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6715"	"LTBP2"	"OMIM:251750"	"Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-14 13:36:32"	""	""	""	"PMID: 28106320"	"0279"	"2021-03-02"
"GENCC_000101-HGNC_6716-OMIM_617809-HP_0000006-GENCC_100004"	"HGNC:6716"	"LTBP3"	"MONDO:0054722"	"geleophysic dysplasia 3"	"OMIM:617809"	"Geleophysic dysplasia 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6716"	"LTBP3"	"OMIM:617809"	"Geleophysic dysplasia 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-26 13:36:32"	""	""	""	"PMID: 28106320"	"0270"	"2021-03-02"
"GENCC_000101-HGNC_6716-OMIM_601216-HP_0000007-GENCC_100004"	"HGNC:6716"	"LTBP3"	"MONDO:0011018"	"brachyolmia-amelogenesis imperfecta syndrome"	"OMIM:601216"	"Dental anomalies and short stature"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6716"	"LTBP3"	"OMIM:601216"	"Dental anomalies and short stature"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-19 13:36:32"	""	""	""	"PMID: 28106320"	"0270"	"2021-03-02"
"GENCC_000101-HGNC_6717-OMIM_613177-HP_0000007-GENCC_100002"	"HGNC:6717"	"LTBP4"	"MONDO:0013170"	"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"	"OMIM:613177"	"Cutis laxa, autosomal recessive, type IC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6717"	"LTBP4"	"OMIM:613177"	"Cutis laxa, autosomal recessive, type IC"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-05-22 13:36:33"	""	""	""	"PMID: 28106320"	"5067"	"2021-03-02"
"GENCC_000101-HGNC_6742-OMIM_605275-HP_0000007-GENCC_100003"	"HGNC:6742"	"LZTR1"	"MONDO:0011531"	"Noonan syndrome 2"	"OMIM:605275"	"Noonan syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6742"	"LZTR1"	"OMIM:605275"	"Noonan syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-02-04 00:00:00"	""	""	""	"PMID: 28106320"	"5681"	"2021-03-02"
"GENCC_000101-HGNC_6742-OMIM_616564-HP_0000006-GENCC_100001"	"HGNC:6742"	"LZTR1"	"MONDO:0014693"	"Noonan syndrome 10"	"OMIM:616564"	"Noonan syndrome 10"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6742"	"LZTR1"	"OMIM:616564"	"Noonan syndrome 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-26 13:36:33"	""	""	""	"PMID: 28106320"	"5681"	"2021-03-02"
"GENCC_000101-HGNC_6742-OMIM_615670-HP_0000006-GENCC_100001"	"HGNC:6742"	"LZTR1"	"MONDO:0014299"	"LZTR1-related schwannomatosis"	"OMIM:615670"	"{Schwannomatosis-2, susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6742"	"LZTR1"	"OMIM:615670"	"Schwannomatosis-2, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-02-20 00:00:00"	""	""	""	"PMID: 28106320"	"5681"	"2021-03-02"
"GENCC_000101-HGNC_6757-OMIM_618479-HP_0000007-GENCC_100004"	"HGNC:6757"	"MAB21L1"	"MONDO:0032774"	"cerebellar, ocular, craniofacial, and genital syndrome"	"OMIM:618479"	"Cerebellar, ocular, craniofacial, and genital syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6757"	"MAB21L1"	"OMIM:618479"	"Cerebellar, ocular, craniofacial, and genital syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:33"	""	""	""	"PMID: 28106320"	"0258"	"2021-03-02"
"GENCC_000101-HGNC_6758-OMIM_615877-HP_0032113-GENCC_100003"	"HGNC:6758"	"MAB21L2"	"MONDO:0014380"	"colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"OMIM:615877"	"Microphthalmia/coloboma and skeletal dysplasia syndrome"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6758"	"MAB21L2"	"OMIM:615877"	"Microphthalmia/coloboma and skeletal dysplasia syndrome"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:36:33"	""	""	""	"PMID: 28106320"	"82751"	"2021-03-02"
"GENCC_000101-HGNC_6766-OMIM_619005-HP_0000007-GENCC_100002"	"HGNC:6766"	"MADD"	"MONDO:0033562"	"neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia"	"OMIM:619005"	"Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6766"	"MADD"	"OMIM:619005"	"Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-08-14 13:36:34"	""	""	""	"PMID: 28106320"	"5714"	"2021-03-02"
"GENCC_000101-HGNC_6408-OMIM_166300-HP_0000006-GENCC_100003"	"HGNC:6408"	"MAFB"	"MONDO:0008152"	"multicentric carpo-tarsal osteolysis with or without nephropathy"	"OMIM:166300"	"Multicentric carpotarsal osteolysis syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6408"	"MAFB"	"OMIM:166300"	"Multicentric carpotarsal osteolysis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-10-25 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64809"	"2024-01-02"
"GENCC_000101-HGNC_18957-OMIM_617609-HP_0000007-GENCC_100004"	"HGNC:18957"	"MAGI2"	"MONDO:0033262"	"nephrotic syndrome 15"	"OMIM:617609"	"Nephrotic syndrome, type 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18957"	"MAGI2"	"OMIM:617609"	"Nephrotic syndrome, type 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11736"	"2023-08-19"
"GENCC_000101-HGNC_6819-OMIM_615468-HP_0000007-GENCC_100003"	"HGNC:6819"	"MALT1"	"MONDO:0014197"	"combined immunodeficiency due to MALT1 deficiency"	"OMIM:615468"	"Immunodeficiency 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6819"	"MALT1"	"OMIM:615468"	"Immunodeficiency 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:35"	""	""	""	"PMID: 28106320"	"82536"	"2021-03-02"
"GENCC_000101-HGNC_2568-OMIM_300758-HP_0001417-GENCC_100002"	"HGNC:2568"	"MAMLD1"	"MONDO:0010423"	"hypospadias 2, X-linked"	"OMIM:300758"	"Hypospadias 2, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2568"	"MAMLD1"	"OMIM:300758"	"Hypospadias 2, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-26 13:36:36"	""	""	""	"PMID: 28106320"	"82201"	"2021-03-02"
"GENCC_000101-HGNC_6823-OMIM_614202-HP_0000007-GENCC_100002"	"HGNC:6823"	"MAN1B1"	"MONDO:0013624"	"Rafiq syndrome"	"OMIM:614202"	"Rafiq syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6823"	"MAN1B1"	"OMIM:614202"	"Rafiq syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-06 13:36:36"	""	""	""	"PMID: 28106320"	"88679"	"2021-03-02"
"GENCC_000101-HGNC_6840-OMIM_615279-HP_0000006-GENCC_100003"	"HGNC:6840"	"MAP2K1"	"MONDO:0014113"	"cardiofaciocutaneous syndrome 3"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6840"	"MAP2K1"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:36:36"	""	""	""	"PMID: 28106320"	"7120"	"2021-03-02"
"GENCC_000101-HGNC_6842-OMIM_615280-HP_0000006-GENCC_100002"	"HGNC:6842"	"MAP2K2"	"MONDO:0014114"	"cardiofaciocutaneous syndrome 4"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6842"	"MAP2K2"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-30 13:36:36"	""	""	""	"PMID: 28106320"	"7127"	"2021-03-02"
"GENCC_000101-HGNC_6859-OMIM_157800-HP_0000006-GENCC_100002"	"HGNC:6859"	"MAP3K7"	"MONDO:0008005"	"cardiospondylocarpofacial syndrome"	"OMIM:157800"	"Cardiospondylocarpofacial syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6859"	"MAP3K7"	"OMIM:157800"	"Cardiospondylocarpofacial syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-09 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11799"	"2025-01-17"
"GENCC_000101-HGNC_6859-OMIM_617137-HP_0000006-GENCC_100002"	"HGNC:6859"	"MAP3K7"	"MONDO:0014935"	"frontometaphyseal dysplasia 2"	"OMIM:617137"	"Frontometaphyseal dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6859"	"MAP3K7"	"OMIM:617137"	"Frontometaphyseal dysplasia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-09 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18684"	"2025-01-17"
"GENCC_000101-HGNC_6882-OMIM_125853-HP_0000006-GENCC_100004"	"HGNC:6882"	"MAPK8IP1"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6882"	"MAPK8IP1"	"OMIM:125853"	"Diabetes mellitus, noninsulin-dependent"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-12 13:36:37"	""	""	""	"PMID: 28106320"	"3043"	"2021-03-02"
"GENCC_000101-HGNC_6884-OMIM_618443-HP_0000006-GENCC_100002"	"HGNC:6884"	"MAPK8IP3"	"MONDO:0032755"	"neurodevelopmental disorder with or without variable brain abnormalities; NEDBA"	"OMIM:618443"	"Neurodevelopmental disorder with or without variable brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6884"	"MAPK8IP3"	"OMIM:618443"	"Neurodevelopmental disorder with or without variable brain abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-01-10 13:36:37"	""	""	""	"PMID: 28106320"	"69816"	"2021-03-02"
"GENCC_000101-HGNC_6891-OMIM_616734-HP_0000006-GENCC_100003"	"HGNC:6891"	"MAPRE2"	"MONDO:0014755"	"skin creases, congenital symmetric circumferential, 2"	"OMIM:616734"	"Symmetric circumferential skin creases, congenital, 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6891"	"MAPRE2"	"OMIM:616734"	"Symmetric circumferential skin creases, congenital, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-10 13:36:37"	""	""	""	"PMID: 28106320"	"82356"	"2021-03-02"
"GENCC_000101-HGNC_6897-OMIM_618283-HP_0000007-GENCC_100004"	"HGNC:6897"	"MARK3"	"MONDO:0032655"	"visual impairment and progressive phthisis bulbi"	"OMIM:618283"	"?Visual impairment and progressive phthisis bulbi"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6897"	"MARK3"	"OMIM:618283"	"Visual impairment and progressive phthisis bulbi"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-24 13:36:38"	""	""	""	"PMID: 28106320"	"0802"	"2021-03-02"
"GENCC_000101-HGNC_19034-OMIM_618273-HP_0000006-GENCC_100003"	"HGNC:19034"	"MAST1"	"MONDO:0032648"	"mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"	"OMIM:618273"	"Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19034"	"MAST1"	"OMIM:618273"	"Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-28 13:36:39"	""	""	""	"PMID: 28106320"	"66359"	"2021-03-02"
"GENCC_000101-HGNC_6903-OMIM_250850-HP_0000006-GENCC_100002"	"HGNC:6903"	"MAT1A"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"OMIM:250850"	"Methionine adenosyltransferase deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6903"	"MAT1A"	"OMIM:250850"	"Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-10-23 13:36:40"	""	""	""	"PMID: 28106320"	"0809"	"2021-03-02"
"GENCC_000101-HGNC_6903-OMIM_250850-HP_0000007-GENCC_100002"	"HGNC:6903"	"MAT1A"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"OMIM:250850"	"Methionine adenosyltransferase deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6903"	"MAT1A"	"OMIM:250850"	"Methionine adenosyltransferase deficiency, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-10-23 13:36:40"	""	""	""	"PMID: 28106320"	"0809"	"2021-03-02"
"GENCC_000101-HGNC_6913-OMIM_171300-HP_0000006-GENCC_100001"	"HGNC:6913"	"MAX"	"MONDO:0008233"	"pheochromocytoma"	"OMIM:171300"	"{Pheochromocytoma, susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6913"	"MAX"	"OMIM:171300"	"Pheochromocytoma, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-03-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65348"	"2023-08-19"
"GENCC_000101-HGNC_15505-OMIM_617188-HP_0000007-GENCC_100003"	"HGNC:15505"	"MBOAT7"	"MONDO:0014962"	"intellectual disability, autosomal recessive 57"	"OMIM:617188"	"Intellectual developmental disorder, autosomal recessive 57"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15505"	"MBOAT7"	"OMIM:617188"	"Mental retardation, autosomal recessive 57"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-23 13:36:40"	""	""	""	"PMID: 28106320"	"43809"	"2021-03-02"
"GENCC_000101-HGNC_15456-OMIM_618392-HP_0000007-GENCC_100003"	"HGNC:15456"	"MBTPS1"	"MONDO:0032721"	"spondyloepiphyseal dysplasia, kondo-fu type"	"OMIM:618392"	"?Spondyloepiphyseal dysplasia, Kondo-Fu type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15456"	"MBTPS1"	"OMIM:618392"	"Spondyloepiphyseal dysplasia, Kondo-Fu type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-11-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14714"	"2023-08-19"
"GENCC_000101-HGNC_6946-OMIM_618124-HP_0000007-GENCC_100003"	"HGNC:6946"	"MCM3AP"	"MONDO:0029131"	"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"OMIM:618124"	"Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6946"	"MCM3AP"	"OMIM:618124"	"Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-07-17 00:00:00"	""	""	""	"PMID: 28106320"	"5555"	"2021-03-02"
"GENCC_000101-HGNC_16147-OMIM_612885-HP_0000007-GENCC_100003"	"HGNC:16147"	"MCM8"	"MONDO:0044776"	"premature ovarian failure 10"	"OMIM:612885"	"?Premature ovarian failure 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16147"	"MCM8"	"OMIM:612885"	"Premature ovarian failure 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-14 13:36:42"	""	""	""	"PMID: 28106320"	"50787"	"2021-03-02"
"GENCC_000101-HGNC_21484-OMIM_616185-HP_0000007-GENCC_100003"	"HGNC:21484"	"MCM9"	"MONDO:0014520"	"46,XX ovarian dysgenesis-short stature syndrome"	"OMIM:616185"	"Ovarian dysgenesis 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21484"	"MCM9"	"OMIM:616185"	"Ovarian dysgenesis 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:43"	""	""	""	"PMID: 28106320"	"670930"	"2021-03-02"
"GENCC_000101-HGNC_21484-OMIM_616185-HP_0000005-GENCC_100004"	"HGNC:21484"	"MCM9"	"MONDO:0014520"	"46,XX ovarian dysgenesis-short stature syndrome"	"OMIM:616185"	"Ovarian dysgenesis 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21484"	"MCM9"	"OMIM:616185"	"early colorectal carcinoma and mixed polyposis associated with primary hypergonadotropic hypogonadism"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:43"	""	""	""	"PMID: 28106320"	"670930"	"2021-03-02"
"GENCC_000101-HGNC_13356-OMIM_252650-HP_0000007-GENCC_100001"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"mucolipidosis type IV"	"OMIM:252650"	"Mucolipidosis IV"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13356"	"MCOLN1"	"OMIM:252650"	"Mucolipidosis IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-12 13:36:43"	""	""	""	"PMID: 28106320"	"74836"	"2021-03-02"
"GENCC_000101-HGNC_6971-OMIM_617339-HP_0000007-GENCC_100003"	"HGNC:6971"	"MDH2"	"MONDO:0015025"	"developmental and epileptic encephalopathy, 51"	"OMIM:617339"	"Developmental and epileptic encephalopathy 51"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6971"	"MDH2"	"OMIM:617339"	"Developmental and epileptic encephalopathy 51"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-09-28 13:36:43"	""	""	""	"PMID: 28106320"	"0838"	"2021-03-02"
"GENCC_000101-HGNC_6990-OMIM_312750-HP_0001417-GENCC_100001"	"HGNC:6990"	"MECP2"	"MONDO:0010726"	"Rett syndrome"	"OMIM:312750"	"Rett syndrome, preserved speech variant"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6990"	"MECP2"	"OMIM:312750"	"Rett syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-14 13:36:43"	""	""	""	"PMID: 28106320"	"0620"	"2021-03-02"
"GENCC_000101-HGNC_22474-OMIM_618009-HP_0000006-GENCC_100001"	"HGNC:22474"	"MED13"	"MONDO:0032485"	"intellectual developmental disorder 61"	"OMIM:618009"	"Intellectual developmental disorder, autosomal dominant 61"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22474"	"MED13"	"OMIM:618009"	"Intellectual developmental disorder, autosomal dominant 61"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-30 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11714"	"2025-01-17"
"GENCC_000101-HGNC_2372-OMIM_614249-HP_0000007-GENCC_100003"	"HGNC:2372"	"MED23"	"MONDO:0013651"	"intellectual disability, autosomal recessive 18"	"OMIM:614249"	"Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2372"	"MED23"	"OMIM:614249"	"Mental retardation, autosomal recessive 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-31 13:36:44"	""	""	""	"PMID: 28106320"	"3093"	"2021-03-02"
"GENCC_000101-HGNC_28845-OMIM_616449-HP_0000007-GENCC_100003"	"HGNC:28845"	"MED25"	"MONDO:0014643"	"congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome"	"OMIM:616449"	"Basel-Vanagait-Smirin-Yosef syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28845"	"MED25"	"OMIM:616449"	"Basel-Vanagait-Smirin-Yosef syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-28 13:36:44"	""	""	""	"PMID: 28106320"	"58574"	"2021-03-02"
"GENCC_000101-HGNC_3233-OMIM_614976-HP_0000007-GENCC_100003"	"HGNC:3233"	"MEGF8"	"MONDO:0013998"	"MEGF8-related Carpenter syndrome"	"OMIM:614976"	"Carpenter syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3233"	"MEGF8"	"OMIM:614976"	"Carpenter syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-12 13:36:44"	""	""	""	"PMID: 28106320"	"8370"	"2021-03-02"
"GENCC_000101-HGNC_7001-OMIM_600987-HP_0000006-GENCC_100003"	"HGNC:7001"	"MEIS2"	"MONDO:0010970"	"cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies"	"OMIM:600987"	"Cleft palate, cardiac defects, and impaired intellectual development"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7001"	"MEIS2"	"OMIM:600987"	"Cleft palate, cardiac defects, and mental retardation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-06 13:36:45"	""	""	""	"PMID: 28106320"	"0686"	"2021-03-02"
"GENCC_000101-HGNC_7013-OMIM_214300-HP_0000007-GENCC_100003"	"HGNC:7013"	"MEOX1"	"MONDO:0008958"	"Klippel-Feil syndrome 2, autosomal recessive"	"OMIM:214300"	"Klippel-Feil syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7013"	"MEOX1"	"OMIM:214300"	"Klippel-Feil syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:45"	""	""	""	"PMID: 28106320"	"0666"	"2021-03-02"
"GENCC_000101-HGNC_7029-OMIM_605074-HP_0000006-GENCC_100001"	"HGNC:7029"	"MET"	"MONDO:0003789"	"hereditary papillary renal cell carcinoma"	"OMIM:605074"	"Renal cell carcinoma, papillary, 1, familial and somatic"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7029"	"MET"	"OMIM:605074"	"Renal cell carcinoma, papillary, 1, familial and somatic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"660"	"2023-08-19"
"GENCC_000101-HGNC_7029-OMIM_607278-HP_0000006-GENCC_100004"	"HGNC:7029"	"MET"	"MONDO:0011806"	"osteofibrous dysplasia"	"OMIM:607278"	"{Osteofibrous dysplasia, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7029"	"MET"	"OMIM:607278"	"Osteofibrous dysplasia, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"75257"	"2023-08-19"
"GENCC_000101-HGNC_26988-OMIM_615942-HP_0000007-GENCC_100003"	"HGNC:26988"	"METTL23"	"MONDO:0014409"	"intellectual disability, autosomal recessive 44"	"OMIM:615942"	"Intellectual developmental disorder, autosomal recessive 44"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26988"	"METTL23"	"OMIM:615942"	"Mental retardation, autosomal recessive 44"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-05-29 13:36:47"	""	""	""	"PMID: 28106320"	"860786"	"2021-03-02"
"GENCC_000101-HGNC_25006-OMIM_618665-HP_0000007-GENCC_100003"	"HGNC:25006"	"METTL5"	"MONDO:0032860"	"intellectual developmental disorder, autosomal recessive 72"	"OMIM:618665"	"Intellectual developmental disorder, autosomal recessive 72"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25006"	"METTL5"	"OMIM:618665"	"Intellectual developmental disorder, autosomal recessive 72"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-10-03 13:36:48"	""	""	""	"PMID: 28106320"	"63258"	"2021-03-02"
"GENCC_000101-HGNC_29673-OMIM_616166-HP_0000006-GENCC_100004"	"HGNC:29673"	"MFAP5"	"MONDO:0014514"	"aortic aneurysm, familial thoracic 9"	"OMIM:616166"	"Aortic aneurysm, familial thoracic 9"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29673"	"MFAP5"	"OMIM:616166"	"Aortic aneurysm, familial thoracic 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-17 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78518"	"2025-01-17"
"GENCC_000101-HGNC_18121-OMIM_609549-HP_0000007-GENCC_100003"	"HGNC:18121"	"MFRP"	"MONDO:0012299"	"nanophthalmos 2"	"OMIM:609549"	"Nanophthalmos 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18121"	"MFRP"	"OMIM:609549"	"Nanophthalmos 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-16 13:36:48"	""	""	""	"PMID: 28106320"	"59776"	"2021-03-02"
"GENCC_000101-HGNC_18121-OMIM_611040-HP_0000007-GENCC_100003"	"HGNC:18121"	"MFRP"	"MONDO:0012605"	"isolated microphthalmia 5"	"OMIM:611040"	"Microphthalmia, isolated 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18121"	"MFRP"	"OMIM:611040"	"Microphthalmia, isolated 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-16 13:36:48"	""	""	""	"PMID: 28106320"	"59776"	"2021-03-02"
"GENCC_000101-HGNC_7045-OMIM_212066-HP_0000007-GENCC_100003"	"HGNC:7045"	"MGAT2"	"MONDO:0008908"	"MGAT2-congenital disorder of glycosylation"	"OMIM:212066"	"Congenital disorder of glycosylation, type IIa"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7045"	"MGAT2"	"OMIM:212066"	"Congenital disorder of glycosylation, type IIa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:48"	""	""	""	"PMID: 28106320"	"0604"	"2021-03-02"
"GENCC_000101-HGNC_1530-OMIM_615673-HP_0000007-GENCC_100001"	"HGNC:1530"	"MICU1"	"MONDO:0014300"	"proximal myopathy with extrapyramidal signs"	"OMIM:615673"	"Myopathy with extrapyramidal signs"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1530"	"MICU1"	"OMIM:615673"	"Myopathy with extrapyramidal signs"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-01-26 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11774"	"2025-01-17"
"GENCC_000101-HGNC_7095-OMIM_300000-HP_0001417-GENCC_100001"	"HGNC:7095"	"MID1"	"MONDO:0010222"	"X-linked Opitz G/BBB syndrome"	"OMIM:300000"	"Opitz GBBB syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7095"	"MID1"	"OMIM:300000"	"Opitz GBBB syndrome, type I"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:36:49"	""	""	""	"PMID: 28106320"	"0658"	"2021-03-02"
"GENCC_000101-HGNC_23564-OMIM_614326-HP_0000006-GENCC_100004"	"HGNC:23564"	"MIR17HG"	"MONDO:0013691"	"Feingold syndrome type 2"	"OMIM:614326"	"Feingold syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23564"	"MIR17HG"	"OMIM:614326"	"Feingold syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-02 13:36:49"	""	""	""	"PMID: 28106320"	"024347"	"2021-03-02"
"GENCC_000101-HGNC_7114-OMIM_615346-HP_0000006-GENCC_100002"	"HGNC:7114"	"MKRN3"	"MONDO:0014137"	"precocious puberty, central, 2"	"OMIM:615346"	"Precocious puberty, central, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7114"	"MKRN3"	"OMIM:615346"	"Precocious puberty, central, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-19 13:36:49"	""	""	""	"PMID: 28106320"	"4158"	"2021-03-02"
"GENCC_000101-HGNC_17082-OMIM_604004-HP_0000007-GENCC_100001"	"HGNC:17082"	"MLC1"	"MONDO:0024555"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"OMIM:604004"	"Megalencephalic leukoencephalopathy with subcortical cysts 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17082"	"MLC1"	"OMIM:604004"	"Megalencephalic leukoencephalopathy with subcortical cysts"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-12 13:36:50"	""	""	""	"PMID: 28106320"	"69623"	"2021-03-02"
"GENCC_000101-HGNC_7160-OMIM_277950-HP_0000007-GENCC_100003"	"HGNC:7160"	"MMP14"	"MONDO:0010201"	"Winchester syndrome"	"OMIM:277950"	"Winchester syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7160"	"MMP14"	"OMIM:277950"	"Winchester syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-07 13:36:50"	""	""	""	"PMID: 28106320"	"0969"	"2021-03-02"
"GENCC_000101-HGNC_7166-OMIM_259600-HP_0000007-GENCC_100002"	"HGNC:7166"	"MMP2"	"MONDO:0009809"	"multicentric osteolysis, nodulosis, and arthropathy"	"OMIM:259600"	"Multicentric osteolysis, nodulosis, and arthropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7166"	"MMP2"	"OMIM:259600"	"Multicentric osteolysis, nodulosis, and arthropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:36:50"	""	""	""	"PMID: 28106320"	"0989"	"2021-03-02"
"GENCC_000101-HGNC_7167-OMIM_612529-HP_0000007-GENCC_100003"	"HGNC:7167"	"MMP20"	"MONDO:0012926"	"amelogenesis imperfecta hypomaturation type 2A2"	"OMIM:612529"	"Amelogenesis imperfecta, type IIA2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7167"	"MMP20"	"OMIM:612529"	"Amelogenesis imperfecta, type IIA2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:36:51"	""	""	""	"PMID: 28106320"	"3989"	"2021-03-02"
"GENCC_000101-HGNC_7180-OMIM_607174-HP_0000006-GENCC_100004"	"HGNC:7180"	"MN1"	"MONDO:0011789"	"familial meningioma"	"OMIM:607174"	"Meningioma, SIS-related"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7180"	"MN1"	"OMIM:607174"	"Meningioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:36:51"	""	""	""	"PMID: 28106320"	"0992"	"2021-03-02"
"GENCC_000101-HGNC_7180-OMIM_618774-HP_0000006-GENCC_100002"	"HGNC:7180"	"MN1"	"MONDO:0032908"	"CEBALID syndrome"	"OMIM:618774"	"CEBALID syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7180"	"MN1"	"OMIM:618774"	"CEBALID syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-09 13:36:52"	""	""	""	"PMID: 28106320"	"0992"	"2021-03-02"
"GENCC_000101-HGNC_21606-OMIM_614741-HP_0000007-GENCC_100004"	"HGNC:21606"	"MPC1"	"MONDO:0013877"	"mitochondrial pyruvate carrier deficiency"	"OMIM:614741"	"Mitochondrial pyruvate carrier deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21606"	"MPC1"	"OMIM:614741"	"Mitochondrial pyruvate carrier deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-29 13:36:52"	""	""	""	"PMID: 28106320"	"78112"	"2021-03-02"
"GENCC_000101-HGNC_7208-OMIM_615219-HP_0000007-GENCC_100002"	"HGNC:7208"	"MPDZ"	"MONDO:0014085"	"hydrocephalus, nonsyndromic, autosomal recessive 2"	"OMIM:615219"	"Hydrocephalus, congenital, 2, with or without brain or eye anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7208"	"MPDZ"	"OMIM:615219"	"Hydrocephalus, congenital, 2, with or without brain or eye anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-08 13:36:52"	""	""	""	"PMID: 28106320"	"5444"	"2021-03-02"
"GENCC_000101-HGNC_3496-OMIM_618145-HP_0000007-GENCC_100001"	"HGNC:3496"	"MPZL2"	"MONDO:0029142"	"hearing loss, autosomal recessive 111"	"OMIM:618145"	"Deafness, autosomal recessive 111"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3496"	"MPZL2"	"OMIM:618145"	"Deafness, autosomal recessive 111"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-09-07 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11127"	"2024-01-02"
"GENCC_000101-HGNC_14495-OMIM_617950-HP_0000007-GENCC_100004"	"HGNC:14495"	"MRPS2"	"MONDO:0054781"	"combined oxidative phosphorylation deficiency 36"	"OMIM:617950"	"Combined oxidative phosphorylation deficiency 36"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14495"	"MRPS2"	"OMIM:617950"	"Combined oxidative phosphorylation deficiency 36"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-29 13:36:53"	""	""	""	"PMID: 28106320"	"78881"	"2021-03-02"
"GENCC_000101-HGNC_14513-OMIM_618958-HP_0000007-GENCC_100004"	"HGNC:14513"	"MRPS28"	"MONDO:0033537"	"combined oxidative phosphorylation deficiency 47"	"OMIM:618958"	"?Combined oxidative phosphorylation deficiency 47"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14513"	"MRPS28"	"OMIM:618958"	"Combined oxidative phosphorylation deficiency 47"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-09 13:36:54"	""	""	""	"PMID: 28106320"	"65374"	"2021-03-02"
"GENCC_000101-HGNC_7370-OMIM_301032-HP_0001417-GENCC_100002"	"HGNC:7370"	"MSL3"	"MONDO:0026730"	"Basilicata-Akhtar syndrome"	"OMIM:301032"	"Basilicata-Akhtar syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7370"	"MSL3"	"OMIM:301032"	"Basilicata-Akhtar syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-09-17 13:36:54"	""	""	""	"PMID: 28106320"	"82309"	"2021-03-02"
"GENCC_000101-HGNC_27375-OMIM_613718-HP_0000007-GENCC_100003"	"HGNC:27375"	"MSRB3"	"MONDO:0013386"	"autosomal recessive nonsyndromic hearing loss 74"	"OMIM:613718"	"Deafness, autosomal recessive 74"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27375"	"MSRB3"	"OMIM:613718"	"Deafness, autosomal recessive 74"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-03 13:36:54"	""	""	""	"PMID: 28106320"	"679564"	"2021-03-02"
"GENCC_000101-HGNC_29678-OMIM_617675-HP_0000007-GENCC_100003"	"HGNC:29678"	"MSTO1"	"MONDO:0044714"	"mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"	"OMIM:617675"	"Myopathy, mitochondrial, and ataxia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29678"	"MSTO1"	"OMIM:617675"	"Myopathy, mitochondrial, and ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-31 13:36:55"	""	""	""	"PMID: 28106320"	"77870"	"2021-03-02"
"GENCC_000101-HGNC_29666-OMIM_614947-HP_0000007-GENCC_100003"	"HGNC:29666"	"MTFMT"	"MONDO:0013987"	"combined oxidative phosphorylation defect type 15"	"OMIM:614947"	"Combined oxidative phosphorylation deficiency 15"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29666"	"MTFMT"	"OMIM:614947"	"Combined oxidative phosphorylation deficiency 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:36:55"	""	""	""	"PMID: 28106320"	"869619"	"2021-03-02"
"GENCC_000101-HGNC_7448-OMIM_310400-HP_0001417-GENCC_100001"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked myotubular myopathy"	"OMIM:310400"	"Myopathy, centronuclear, X-linked"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7448"	"MTM1"	"OMIM:310400"	"Myotubular myopathy, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-08-21 13:36:55"	""	""	""	"PMID: 28106320"	"0790"	"2021-03-02"
"GENCC_000101-HGNC_7450-OMIM_601382-HP_0000007-GENCC_100002"	"HGNC:7450"	"MTMR2"	"MONDO:0011066"	"Charcot-Marie-Tooth disease type 4B1"	"OMIM:601382"	"Charcot-Marie-Tooth disease, type 4B1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7450"	"MTMR2"	"OMIM:601382"	"Charcot-Marie-Tooth disease, type 4B1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-06-05 13:36:55"	""	""	""	"PMID: 28106320"	"5535"	"2021-03-02"
"GENCC_000101-HGNC_19261-OMIM_614702-HP_0000007-GENCC_100003"	"HGNC:19261"	"MTO1"	"MONDO:0013865"	"mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"	"OMIM:614702"	"Combined oxidative phosphorylation deficiency 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19261"	"MTO1"	"OMIM:614702"	"Combined oxidative phosphorylation deficiency 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-14 13:36:55"	""	""	""	"PMID: 28106320"	"67568"	"2021-03-02"
"GENCC_000101-HGNC_7549-OMIM_618524-HP_0000006-GENCC_100003"	"HGNC:7549"	"MYBPC1"	"MONDO:0032797"	"myopathy, congenital, with tremor"	"OMIM:618524"	"Congenital myopathy 16"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7549"	"MYBPC1"	"OMIM:618524"	"Congenital myopathy 16"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-22 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11592"	"2024-01-02"
"GENCC_000101-HGNC_7551-OMIM_615396-HP_0000006-GENCC_100001"	"HGNC:7551"	"MYBPC3"	"MONDO:0014163"	"left ventricular noncompaction 10"	"OMIM:615396"	"Left ventricular noncompaction 10"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7551"	"MYBPC3"	"OMIM:615396"	"Cardiomyopathy, dilated, 1MM"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-10-24 00:00:00"	""	""	""	"PMID: 28106320"	"0124"	"2021-03-02"
"GENCC_000101-HGNC_7551-OMIM_115197-HP_0000006-GENCC_100001"	"HGNC:7551"	"MYBPC3"	"MONDO:0007268"	"hypertrophic cardiomyopathy 4"	"OMIM:115197"	"Cardiomyopathy, hypertrophic, 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7551"	"MYBPC3"	"OMIM:115197"	"Cardiomyopathy, hypertrophic, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-10-24 00:00:00"	""	""	""	"PMID: 28106320"	"0124"	"2021-03-02"
"GENCC_000101-HGNC_7551-OMIM_615396-HP_0000006-GENCC_100003"	"HGNC:7551"	"MYBPC3"	"MONDO:0014163"	"left ventricular noncompaction 10"	"OMIM:615396"	"Left ventricular noncompaction 10"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7551"	"MYBPC3"	"OMIM:615396"	"Left ventricular noncompaction 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-19 13:36:57"	""	""	""	"PMID: 28106320"	"0124"	"2021-03-02"
"GENCC_000101-HGNC_7565-OMIM_618155-HP_0000007-GENCC_100004"	"HGNC:7565"	"MYF5"	"MONDO:0032565"	"ophthalmoplegia, external, with rib and vertebral anomalies"	"OMIM:618155"	"Ophthalmoplegia, external, with rib and vertebral anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7565"	"MYF5"	"OMIM:618155"	"Ophthalmoplegia, external, with rib and vertebral anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-19 13:36:58"	""	""	""	"PMID: 28106320"	"0184"	"2021-03-02"
"GENCC_000101-HGNC_7569-OMIM_132900-HP_0000006-GENCC_100002"	"HGNC:7569"	"MYH11"	"MONDO:0007568"	"aortic aneurysm, familial thoracic 4"	"OMIM:132900"	"Aortic aneurysm, familial thoracic 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7569"	"MYH11"	"OMIM:132900"	"Aortic aneurysm, familial thoracic 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-26 13:36:58"	""	""	""	"PMID: 28106320"	"0163"	"2021-03-02"
"GENCC_000101-HGNC_23212-OMIM_600652-HP_0000006-GENCC_100001"	"HGNC:23212"	"MYH14"	"MONDO:0010915"	"autosomal dominant nonsyndromic hearing loss 4A"	"OMIM:600652"	"Deafness, autosomal dominant 4A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23212"	"MYH14"	"OMIM:600652"	"Deafness, autosomal dominant 4A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-08-03 13:36:59"	""	""	""	"PMID: 28106320"	"43450"	"2021-03-02"
"GENCC_000101-HGNC_23212-OMIM_614369-HP_0000006-GENCC_100003"	"HGNC:23212"	"MYH14"	"MONDO:0013711"	"peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"	"OMIM:614369"	"?Peripheral neuropathy, myopathy, hoarseness, and hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23212"	"MYH14"	"OMIM:614369"	"Peripheral neuropathy, myopathy, hoarseness, and hearing loss"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-03 13:36:59"	""	""	""	"PMID: 28106320"	"43450"	"2021-03-02"
"GENCC_000101-HGNC_7572-OMIM_605637-HP_0032113-GENCC_100002"	"HGNC:7572"	"MYH2"	"MONDO:0011577"	"myopathy, proximal, and ophthalmoplegia"	"OMIM:605637"	"Congenital myopathy 6 with ophthalmoplegia"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7572"	"MYH2"	"OMIM:605637"	"Proximal myopathy and ophthalmoplegia"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-26 13:36:59"	""	""	""	"PMID: 28106320"	"0162"	"2021-03-02"
"GENCC_000101-HGNC_7573-OMIM_193700-HP_0000006-GENCC_100003"	"HGNC:7573"	"MYH3"	"MONDO:0008675"	"Freeman-Sheldon syndrome"	"OMIM:193700"	"Arthrogryposis, distal, type 2A (Freeman-Sheldon)"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7573"	"MYH3"	"OMIM:193700"	"Arthrogryposis, distal, type 2A (Freeman-Sheldon)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-12 13:36:59"	""	""	""	"PMID: 28106320"	"0168"	"2021-03-02"
"GENCC_000101-HGNC_7573-OMIM_618469-HP_0000007-GENCC_100003"	"HGNC:7573"	"MYH3"	"MONDO:0020746"	"contractures, pterygia, and variable skeletal fusions syndrome 1B"	"OMIM:618469"	"Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7573"	"MYH3"	"OMIM:618469"	"Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-07 13:37:00"	""	""	""	"PMID: 28106320"	"0168"	"2021-03-02"
"GENCC_000101-HGNC_7577-OMIM_608358-HP_0000006-GENCC_100003"	"HGNC:7577"	"MYH7"	"MONDO:0012018"	"myopathy, myosin storage, autosomal dominant"	"OMIM:608358"	"Congenital myopathy 7A, myosin storage, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7577"	"MYH7"	"OMIM:608358"	"Myopathy, myosin storage, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-31 13:37:00"	""	""	""	"PMID: 28106320"	"0167"	"2021-03-02"
"GENCC_000101-HGNC_7577-OMIM_613426-HP_0000006-GENCC_100002"	"HGNC:7577"	"MYH7"	"MONDO:0013262"	"dilated cardiomyopathy 1S"	"OMIM:613426"	"Cardiomyopathy, dilated, 1S"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7577"	"MYH7"	"OMIM:613426"	"Cardiomyopathy, dilated, 1S"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-31 13:37:01"	""	""	""	"PMID: 28106320"	"0167"	"2021-03-02"
"GENCC_000101-HGNC_7577-OMIM_255160-HP_0000007-GENCC_100003"	"HGNC:7577"	"MYH7"	"MONDO:0009708"	"myopathy, myosin storage, autosomal recessive"	"OMIM:255160"	"Congenital myopathy 7B, myosin storage, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7577"	"MYH7"	"OMIM:255160"	"Myopathy, myosin storage, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-30 13:37:01"	""	""	""	"PMID: 28106320"	"0167"	"2021-03-02"
"GENCC_000101-HGNC_7577-OMIM_192600-HP_0000006-GENCC_100001"	"HGNC:7577"	"MYH7"	"MONDO:0008647"	"hypertrophic cardiomyopathy 1"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1, digenic"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7577"	"MYH7"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-05-19 00:00:00"	""	""	""	"PMID: 28106320"	"0167"	"2021-03-02"
"GENCC_000101-HGNC_7577-OMIM_160500-HP_0000006-GENCC_100002"	"HGNC:7577"	"MYH7"	"MONDO:0008050"	"MYH7-related skeletal myopathy"	"OMIM:160500"	"Laing distal myopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7577"	"MYH7"	"OMIM:160500"	"Laing distal myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-05-19 00:00:00"	""	""	""	"PMID: 28106320"	"0167"	"2021-03-02"
"GENCC_000101-HGNC_7578-OMIM_158300-HP_0000006-GENCC_100004"	"HGNC:7578"	"MYH8"	"MONDO:0008016"	"trismus-pseudocamptodactyly syndrome"	"OMIM:158300"	"Trismus-pseudocamptodactyly syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7578"	"MYH8"	"OMIM:158300"	"Trismus-pseudocamptodactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:02"	""	""	""	"PMID: 28106320"	"0161"	"2021-03-02"
"GENCC_000101-HGNC_18150-OMIM_616549-HP_0000007-GENCC_100003"	"HGNC:18150"	"MYO18B"	"MONDO:0014689"	"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	"OMIM:616549"	"Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18150"	"MYO18B"	"OMIM:616549"	"Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-05 13:37:03"	""	""	""	"PMID: 28106320"	"50422"	"2021-03-02"
"GENCC_000101-HGNC_7599-OMIM_614131-HP_0000007-GENCC_100002"	"HGNC:7599"	"MYO1E"	"MONDO:0013589"	"focal segmental glomerulosclerosis 6"	"OMIM:614131"	"Glomerulosclerosis, focal segmental, 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7599"	"MYO1E"	"OMIM:614131"	"Glomerulosclerosis, focal segmental, 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-26 13:37:03"	""	""	""	"PMID: 28106320"	"0109"	"2021-03-02"
"GENCC_000101-HGNC_7601-OMIM_607101-HP_0032113-GENCC_100003"	"HGNC:7601"	"MYO3A"	"MONDO:0011774"	"autosomal recessive nonsyndromic hearing loss 30"	"OMIM:607101"	"Deafness, autosomal recessive 30"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7601"	"MYO3A"	"OMIM:607101"	"Deafness, autosomal recessive 30"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-03-15 13:37:03"	""	""	""	"PMID: 28106320"	"79320"	"2021-03-02"
"GENCC_000101-HGNC_7602-OMIM_214450-HP_0000007-GENCC_100003"	"HGNC:7602"	"MYO5A"	"MONDO:0008962"	"Griscelli syndrome type 1"	"OMIM:214450"	"Griscelli syndrome, type 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7602"	"MYO5A"	"OMIM:214450"	"Griscelli syndrome, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-14 13:37:04"	""	""	""	"PMID: 28106320"	"0100"	"2021-03-02"
"GENCC_000101-HGNC_7606-OMIM_601317-HP_0000006-GENCC_100003"	"HGNC:7606"	"MYO7A"	"MONDO:0011032"	"autosomal dominant nonsyndromic hearing loss 11"	"OMIM:601317"	"Deafness, autosomal dominant 11"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7606"	"MYO7A"	"OMIM:601317"	"Deafness, autosomal dominant 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-27 13:37:04"	""	""	""	"PMID: 28106320"	"0104"	"2021-03-02"
"GENCC_000101-HGNC_7611-OMIM_618975-HP_0000007-GENCC_100004"	"HGNC:7611"	"MYOD1"	"MONDO:0033548"	"myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies"	"OMIM:618975"	"Congenital myopathy 17"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7611"	"MYOD1"	"OMIM:618975"	"Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:05"	""	""	""	"PMID: 28106320"	"0170"	"2021-03-02"
"GENCC_000101-HGNC_1181-OMIM_618113-HP_0000006-GENCC_100004"	"HGNC:1181"	"MYRF"	"MONDO:0020853"	"encephalitis/encephalopathy, mild, with reversible myelin vacuolization"	"OMIM:618113"	"Encephalitis/encephalopathy, mild, with reversible myelin vacuolization"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1181"	"MYRF"	"OMIM:618113"	"Encephalitis/encephalopathy, mild, with reversible myelin vacuolization"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-01 13:37:05"	""	""	""	"PMID: 28106320"	"407"	"2021-03-02"
"GENCC_000101-HGNC_1181-OMIM_618280-HP_0000006-GENCC_100002"	"HGNC:1181"	"MYRF"	"MONDO:0032653"	"cardiac-urogenital syndrome"	"OMIM:618280"	"Cardiac-urogenital syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1181"	"MYRF"	"OMIM:618280"	"Cardiac-urogenital syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-05-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11772"	"2023-08-19"
"GENCC_000101-HGNC_18704-OMIM_300855-HP_0001417-GENCC_100002"	"HGNC:18704"	"NAA10"	"MONDO:0010457"	"Ogden syndrome"	"OMIM:300855"	"Ogden syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18704"	"NAA10"	"OMIM:300855"	"Ogden syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-10-09 00:00:00"	""	""	""	"PMID: 28106320"	"5612"	"2021-03-02"
"GENCC_000101-HGNC_18704-OMIM_309800-HP_0001417-GENCC_100004"	"HGNC:18704"	"NAA10"	"MONDO:0010671"	"microphthalmia, syndromic 1"	"OMIM:309800"	"Microphthalmia, syndromic 1"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18704"	"NAA10"	"OMIM:309800"	"Microphthalmia, syndromic 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-17 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"85795"	"2025-01-17"
"GENCC_000101-HGNC_30782-OMIM_617787-HP_0000006-GENCC_100001"	"HGNC:30782"	"NAA15"	"MONDO:0030916"	"intellectual disability, autosomal dominant 50"	"OMIM:617787"	"Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30782"	"NAA15"	"OMIM:617787"	"Mental retardation, autosomal dominant 50"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-23 13:37:06"	""	""	""	"PMID: 28106320"	"52877"	"2021-03-02"
"GENCC_000101-HGNC_26404-OMIM_616034-HP_0000007-GENCC_100003"	"HGNC:26404"	"NADK2"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"OMIM:616034"	"2,4-dienoyl-CoA reductase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26404"	"NADK2"	"OMIM:616034"	"2,4-dienoyl-CoA reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-05 13:37:06"	""	""	""	"PMID: 28106320"	"899151"	"2021-03-02"
"GENCC_000101-HGNC_29832-OMIM_618845-HP_0000007-GENCC_100003"	"HGNC:29832"	"NADSYN1"	"MONDO:0030077"	"vertebral, cardiac, renal, and limb defects syndrome 3"	"OMIM:618845"	"Vertebral, cardiac, renal, and limb defects syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29832"	"NADSYN1"	"OMIM:618845"	"Vertebral, cardiac, renal, and limb defects syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-03 13:37:07"	""	""	""	"PMID: 28106320"	"77838"	"2021-03-02"
"GENCC_000101-HGNC_19237-OMIM_610442-HP_0000007-GENCC_100003"	"HGNC:19237"	"NANS"	"MONDO:0012495"	"spondyloepimetaphyseal dysplasia, Genevieve type"	"OMIM:610442"	"Spondyloepimetaphyseal dysplasia, Genevieve type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19237"	"NANS"	"OMIM:610442"	"Spondyloepimetaphyseal dysplasia, Camera-Genevieve type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:37:08"	""	""	""	"PMID: 28106320"	"70854"	"2021-03-02"
"GENCC_000101-HGNC_26274-OMIM_616239-HP_0000006-GENCC_100003"	"HGNC:26274"	"NARS2"	"MONDO:0014547"	"combined oxidative phosphorylation defect type 24"	"OMIM:616239"	"Combined oxidative phosphorylation deficiency 24"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26274"	"NARS2"	"OMIM:616239"	"Combined oxidative phosphorylation deficiency 24"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-30 13:37:08"	""	""	""	"PMID: 28106320"	"43498"	"2021-03-02"
"GENCC_000101-HGNC_25576-OMIM_618321-HP_0000006-GENCC_100003"	"HGNC:25576"	"NAXD"	"MONDO:0034121"	"NAD(P)HX dehydratase deficiency"	"OMIM:618321"	"Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25576"	"NAXD"	"OMIM:618321"	"Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-30 13:37:08"	""	""	""	"PMID: 28106320"	"77493"	"2021-03-02"
"GENCC_000101-HGNC_24305-OMIM_617983-HP_0000007-GENCC_100003"	"HGNC:24305"	"NCAPD2"	"MONDO:0054804"	"microcephaly 21, primary, autosomal recessive"	"OMIM:617983"	"Microcephaly 21, primary, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24305"	"NCAPD2"	"OMIM:617983"	"Microcephaly 21, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-05-20 13:37:09"	""	""	""	"PMID: 28106320"	"3385"	"2021-03-02"
"GENCC_000101-HGNC_21904-OMIM_618460-HP_0000007-GENCC_100004"	"HGNC:21904"	"NCAPG2"	"MONDO:0032764"	"Khan-Khan-Katsanis syndrome"	"OMIM:618460"	"Khan-Khan-Katsanis syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21904"	"NCAPG2"	"OMIM:618460"	"Khan-Khan-Katsanis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-11-13 13:37:09"	""	""	""	"PMID: 28106320"	"70536"	"2021-03-02"
"GENCC_000101-HGNC_17619-OMIM_614019-HP_0000007-GENCC_100003"	"HGNC:17619"	"NDE1"	"MONDO:0013527"	"lissencephaly 4"	"OMIM:614019"	"Lissencephaly 4 (with microcephaly)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17619"	"NDE1"	"OMIM:614019"	"Lissencephaly 4 (with microcephaly)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-12 13:37:10"	""	""	""	"PMID: 28106320"	"70562"	"2021-03-02"
"GENCC_000101-HGNC_7678-OMIM_310600-HP_0001417-GENCC_100001"	"HGNC:7678"	"NDP"	"MONDO:0010691"	"Norrie disease"	"OMIM:310600"	"Norrie disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7678"	"NDP"	"OMIM:310600"	"Norrie disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-08 13:37:10"	""	""	""	"PMID: 28106320"	"0139"	"2021-03-02"
"GENCC_000101-HGNC_7683-OMIM_301020-HP_0000007-GENCC_100003"	"HGNC:7683"	"NDUFA1"	"MONDO:0026720"	"mitochondrial complex 1 deficiency, nuclear type 12"	"OMIM:301020"	"Mitochondrial complex I deficiency, nuclear type 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7683"	"NDUFA1"	"OMIM:301020"	"Mitochondrial complex I deficiency, nuclear type 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:10"	""	""	""	"PMID: 28106320"	"0130"	"2021-03-02"
"GENCC_000101-HGNC_23987-OMIM_618244-HP_0000007-GENCC_100003"	"HGNC:23987"	"NDUFA12"	"MONDO:0032627"	"mitochondrial complex 1 deficiency, nuclear type 23"	"OMIM:618244"	"Mitochondrial complex I deficiency, nuclear type 23"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23987"	"NDUFA12"	"OMIM:618244"	"Mitochondrial complex I deficiency, nuclear type 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-23 13:37:10"	""	""	""	"PMID: 28106320"	"77314"	"2021-03-02"
"GENCC_000101-HGNC_17194-OMIM_607464-HP_0000005-GENCC_100004"	"HGNC:17194"	"NDUFA13"	"MONDO:0011836"	"thyroid Hurthle cell carcinoma"	"OMIM:607464"	"{Thyroid carcinoma, Hurthle cell}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17194"	"NDUFA13"	"OMIM:607464"	"Thyroid carcinoma, Hurthle cell"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-27 13:37:11"	""	""	""	"PMID: 28106320"	"78243"	"2021-03-02"
"GENCC_000101-HGNC_17194-OMIM_618249-HP_0000007-GENCC_100004"	"HGNC:17194"	"NDUFA13"	"MONDO:0032632"	"mitochondrial complex 1 deficiency, nuclear type 28"	"OMIM:618249"	"Mitochondrial complex I deficiency, nuclear type 28"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17194"	"NDUFA13"	"OMIM:618249"	"Mitochondrial complex I deficiency, nuclear type 28"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-27 13:37:11"	""	""	""	"PMID: 28106320"	"78243"	"2021-03-02"
"GENCC_000101-HGNC_7690-OMIM_618253-HP_0000007-GENCC_100003"	"HGNC:7690"	"NDUFA6"	"MONDO:0032636"	"mitochondrial complex 1 deficiency, nuclear type 33"	"OMIM:618253"	"Mitochondrial complex I deficiency, nuclear type 33"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7690"	"NDUFA6"	"OMIM:618253"	"Mitochondrial complex I deficiency, nuclear type 33"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-10-05 13:37:11"	""	""	""	"PMID: 28106320"	"0422"	"2021-03-02"
"GENCC_000101-HGNC_15899-OMIM_618238-HP_0000007-GENCC_100002"	"HGNC:15899"	"NDUFAF5"	"MONDO:0032621"	"mitochondrial complex 1 deficiency, nuclear type 16"	"OMIM:618238"	"Mitochondrial complex I deficiency, nuclear type 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15899"	"NDUFAF5"	"OMIM:618238"	"Mitochondrial complex I deficiency, nuclear type 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-28 13:37:12"	""	""	""	"PMID: 28106320"	"43899"	"2021-03-02"
"GENCC_000101-HGNC_28625-OMIM_618239-HP_0000007-GENCC_100003"	"HGNC:28625"	"NDUFAF6"	"MONDO:0032622"	"mitochondrial complex 1 deficiency, nuclear type 17"	"OMIM:618239"	"Mitochondrial complex I deficiency, nuclear type 17"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28625"	"NDUFAF6"	"OMIM:618239"	"Mitochondrial complex I deficiency, nuclear type 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-24 13:37:12"	""	""	""	"PMID: 28106320"	"894156"	"2021-03-02"
"GENCC_000101-HGNC_28625-OMIM_618913-HP_0000007-GENCC_100004"	"HGNC:28625"	"NDUFAF6"	"MONDO:0030056"	"Fanconi renotubular syndrome 5"	"OMIM:618913"	"Fanconi renotubular syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28625"	"NDUFAF6"	"OMIM:618913"	"Fanconi renotubular syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-24 13:37:12"	""	""	""	"PMID: 28106320"	"894156"	"2021-03-02"
"GENCC_000101-HGNC_33551-OMIM_618776-HP_0000007-GENCC_100003"	"HGNC:33551"	"NDUFAF8"	"MONDO:0032910"	"mitochondrial complex 1 deficiency, nuclear type 34"	"OMIM:618776"	"Mitochondrial complex I deficiency, nuclear type 34"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:33551"	"NDUFAF8"	"OMIM:618776"	"Mitochondrial complex I deficiency, nuclear type 34"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-12-30 13:37:12"	""	""	""	"PMID: 28106320"	"650850"	"2021-03-02"
"GENCC_000101-HGNC_7703-OMIM_618252-HP_0000007-GENCC_100003"	"HGNC:7703"	"NDUFB8"	"MONDO:0032635"	"mitochondrial complex 1 deficiency, nuclear type 32"	"OMIM:618252"	"Mitochondrial complex I deficiency, nuclear type 32"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7703"	"NDUFB8"	"OMIM:618252"	"Mitochondrial complex I deficiency, nuclear type 32"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-08 13:37:12"	""	""	""	"PMID: 28106320"	"0480"	"2021-03-02"
"GENCC_000101-HGNC_7704-OMIM_618245-HP_0000007-GENCC_100004"	"HGNC:7704"	"NDUFB9"	"MONDO:0032628"	"mitochondrial complex 1 deficiency, nuclear type 24"	"OMIM:618245"	"?Mitochondrial complex I deficiency, nuclear type 24"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7704"	"NDUFB9"	"OMIM:618245"	"Mitochondrial complex I deficiency, nuclear type 24"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-01 13:37:12"	""	""	""	"PMID: 28106320"	"0487"	"2021-03-02"
"GENCC_000101-HGNC_7716-OMIM_618225-HP_0000007-GENCC_100001"	"HGNC:7716"	"NDUFV1"	"MONDO:0032609"	"mitochondrial complex 1 deficiency, nuclear type 4"	"OMIM:618225"	"Mitochondrial complex I deficiency, nuclear type 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7716"	"NDUFV1"	"OMIM:618225"	"Mitochondrial complex I deficiency, nuclear type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-09 13:37:12"	""	""	""	"PMID: 28106320"	"0469"	"2021-03-02"
"GENCC_000101-HGNC_7717-OMIM_618229-HP_0000007-GENCC_100003"	"HGNC:7717"	"NDUFV2"	"MONDO:0032612"	"mitochondrial complex 1 deficiency, nuclear type 7"	"OMIM:618229"	"Mitochondrial complex I deficiency, nuclear type 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7717"	"NDUFV2"	"OMIM:618229"	"Mitochondrial complex I deficiency, nuclear type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-19 13:37:13"	""	""	""	"PMID: 28106320"	"0463"	"2021-03-02"
"GENCC_000101-HGNC_24539-OMIM_615833-HP_0000007-GENCC_100003"	"HGNC:24539"	"NECAP1"	"MONDO:0014360"	"developmental and epileptic encephalopathy, 21"	"OMIM:615833"	"Developmental and epileptic encephalopathy 21"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24539"	"NECAP1"	"OMIM:615833"	"Developmental and epileptic encephalopathy 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-21 13:37:13"	""	""	""	"PMID: 28106320"	"67344"	"2021-03-02"
"GENCC_000101-HGNC_9706-OMIM_225060-HP_0000007-GENCC_100003"	"HGNC:9706"	"NECTIN1"	"MONDO:0009151"	"cleft lip/palate-ectodermal dysplasia syndrome"	"OMIM:225060"	"Orofacial cleft 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9706"	"NECTIN1"	"OMIM:225060"	"Cleft lip/palate-ectodermal dysplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-21 13:37:13"	""	""	""	"PMID: 28106320"	"7585"	"2021-03-02"
"GENCC_000101-HGNC_18592-OMIM_618781-HP_0000007-GENCC_100004"	"HGNC:18592"	"NEK10"	"MONDO:0032914"	"ciliary dyskinesia, primary, 44"	"OMIM:618781"	"Ciliary dyskinesia, primary, 44"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18592"	"NEK10"	"OMIM:618781"	"Ciliary dyskinesia, primary, 44"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-22 13:37:13"	""	""	""	"PMID: 28106320"	"876882"	"2021-03-02"
"GENCC_000101-HGNC_7763-OMIM_618374-HP_0000006-GENCC_100004"	"HGNC:7763"	"NEUROD2"	"MONDO:0032710"	"developmental and epileptic encephalopathy, 72"	"OMIM:618374"	"Developmental and epileptic encephalopathy 72"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7763"	"NEUROD2"	"OMIM:618374"	"Epileptic encephalopathy, early infantile, 72"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-22 13:37:13"	""	""	""	"PMID: 28106320"	"0418"	"2021-03-02"
"GENCC_000101-HGNC_7773-OMIM_607174-HP_0000005-GENCC_100004"	"HGNC:7773"	"NF2"	"MONDO:0011789"	"familial meningioma"	"OMIM:607174"	"Meningioma, SIS-related"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7773"	"NF2"	"OMIM:607174"	"Meningioma, NF2-related, somatic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:14"	""	""	""	"PMID: 28106320"	"0448"	"2021-03-02"
"GENCC_000101-HGNC_7773-OMIM_101000-HP_0000006-GENCC_100001"	"HGNC:7773"	"NF2"	"MONDO:0007039"	"NF2-related schwannomatosis"	"OMIM:101000"	"Schwannomatosis, somatic"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7773"	"NF2"	"OMIM:101000"	"Neurofibromatosis, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-11-15 00:00:00"	""	""	""	"PMID: 28106320"	"0448"	"2021-03-02"
"GENCC_000101-HGNC_29866-OMIM_618356-HP_0000006-GENCC_100004"	"HGNC:29866"	"NFASC"	"MONDO:0032698"	"neurodevelopmental disorder with central and peripheral motor dysfunction"	"OMIM:618356"	"Neurodevelopmental disorder with central and peripheral motor dysfunction"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29866"	"NFASC"	"OMIM:618356"	"Neurodevelopmental disorder with central and peripheral motor dysfunction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:37:14"	""	""	""	"PMID: 28106320"	"69880"	"2021-03-02"
"GENCC_000101-HGNC_29866-OMIM_618356-HP_0000007-GENCC_100003"	"HGNC:29866"	"NFASC"	"MONDO:0032698"	"neurodevelopmental disorder with central and peripheral motor dysfunction"	"OMIM:618356"	"Neurodevelopmental disorder with central and peripheral motor dysfunction"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29866"	"NFASC"	"OMIM:618356"	"Neurodevelopmental disorder with central and peripheral motor dysfunction"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-09-19 13:37:14"	""	""	""	"PMID: 28106320"	"69880"	"2021-03-02"
"GENCC_000101-HGNC_7785-OMIM_618286-HP_0000006-GENCC_100003"	"HGNC:7785"	"NFIB"	"MONDO:0032658"	"macrocephaly, acquired, with impaired intellectual development"	"OMIM:618286"	"Macrocephaly, acquired, with impaired intellectual development"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7785"	"NFIB"	"OMIM:618286"	"Macrocephaly, acquired, with impaired intellectual development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-29 13:37:14"	""	""	""	"PMID: 28106320"	"0458"	"2021-03-02"
"GENCC_000101-HGNC_7788-OMIM_602535-HP_0000006-GENCC_100003"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"OMIM:602535"	"Marshall-Smith syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7788"	"NFIX"	"OMIM:602535"	"Marshall-Smith syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-29 13:37:14"	""	""	""	"PMID: 28106320"	"0450"	"2021-03-02"
"GENCC_000101-HGNC_7788-OMIM_614753-HP_0000006-GENCC_100001"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan overgrowth syndrome"	"OMIM:614753"	"Malan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7788"	"NFIX"	"OMIM:614753"	"Sotos syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-29 13:37:15"	""	""	""	"PMID: 28106320"	"0450"	"2021-03-02"
"GENCC_000101-HGNC_7795-OMIM_615577-HP_0000006-GENCC_100003"	"HGNC:7795"	"NFKB2"	"MONDO:0014260"	"immunodeficiency, common variable, 10"	"OMIM:615577"	"Immunodeficiency, common variable, 10"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7795"	"NFKB2"	"OMIM:615577"	"Immunodeficiency, common variable, 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-27 13:37:15"	""	""	""	"PMID: 28106320"	"0438"	"2021-03-02"
"GENCC_000101-HGNC_24731-OMIM_618278-HP_0000007-GENCC_100004"	"HGNC:24731"	"NHLRC2"	"MONDO:0032651"	"fibrosis, neurodegeneration, and cerebral angiomatosis"	"OMIM:618278"	"FINCA syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24731"	"NHLRC2"	"OMIM:618278"	"FINCA syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-02 13:37:16"	""	""	""	"PMID: 28106320"	"940970"	"2021-03-02"
"GENCC_000101-HGNC_7820-OMIM_302350-HP_0001417-GENCC_100003"	"HGNC:7820"	"NHS"	"MONDO:0010545"	"Nance-Horan syndrome"	"OMIM:302350"	"Nance-Horan syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7820"	"NHS"	"OMIM:302350"	"Nance-Horan syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:16"	""	""	""	"PMID: 28106320"	"0582"	"2021-03-02"
"GENCC_000101-HGNC_14906-OMIM_614851-HP_0000007-GENCC_100004"	"HGNC:14906"	"NIN"	"MONDO:0013922"	"Seckel syndrome 7"	"OMIM:614851"	"?Seckel syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14906"	"NIN"	"OMIM:614851"	"Seckel syndrome 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:16"	""	""	""	"PMID: 28106320"	"78833"	"2021-03-02"
"GENCC_000101-HGNC_17043-OMIM_600363-HP_0000006-GENCC_100003"	"HGNC:17043"	"NIPA1"	"MONDO:0010878"	"hereditary spastic paraplegia 6"	"OMIM:600363"	"Spastic paraplegia 6, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17043"	"NIPA1"	"OMIM:600363"	"Spastic paraplegia 6, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-26 13:37:17"	""	""	""	"PMID: 28106320"	"869121"	"2021-03-02"
"GENCC_000101-HGNC_29873-OMIM_301039-HP_0001417-GENCC_100003"	"HGNC:29873"	"NKAP"	"MONDO:0026733"	"intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type"	"OMIM:301039"	"Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29873"	"NKAP"	"OMIM:301039"	"Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-12-04 13:37:17"	""	""	""	"PMID: 28106320"	"43741"	"2021-03-02"
"GENCC_000101-HGNC_32940-OMIM_217095-HP_0000007-GENCC_100003"	"HGNC:32940"	"NKX2-6"	"MONDO:0016581"	"conotruncal heart malformations"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32940"	"NKX2-6"	"OMIM:217095"	"Conotruncal heart malformations"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-07-10 13:37:18"	""	""	""	"PMID: 28106320"	"894580"	"2021-03-02"
"GENCC_000101-HGNC_19321-OMIM_617560-HP_0000007-GENCC_100002"	"HGNC:19321"	"NKX6-2"	"MONDO:0033043"	"spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"	"OMIM:617560"	"Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19321"	"NKX6-2"	"OMIM:617560"	"Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-14 13:37:18"	""	""	""	"PMID: 28106320"	"50720"	"2021-03-02"
"GENCC_000101-HGNC_14289-OMIM_300425-HP_0001417-GENCC_100003"	"HGNC:14289"	"NLGN3"	"MONDO:0010321"	"autism, susceptibility to, X-linked 1"	"OMIM:300425"	"{Autism susceptibility, X-linked 1}"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14289"	"NLGN3"	"OMIM:300425"	"Autism susceptibility, X-linked 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-11 13:37:19"	""	""	""	"PMID: 28106320"	"70089"	"2021-03-02"
"GENCC_000101-HGNC_14287-OMIM_300495-HP_0001417-GENCC_100002"	"HGNC:14287"	"NLGN4X"	"MONDO:0010341"	"autism, susceptibility to, X-linked 2"	"OMIM:300495"	"{Autism susceptibility, X-linked 2}"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14287"	"NLGN4X"	"OMIM:300495"	"Intellectual developmental disorder, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-02-27 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15220"	"2025-01-17"
"GENCC_000101-HGNC_14374-OMIM_617388-HP_0032113-GENCC_100004"	"HGNC:14374"	"NLRP1"	"MONDO:0060457"	"autoinflammation with arthritis and dyskeratosis"	"OMIM:617388"	"Autoinflammation with arthritis and dyskeratosis"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14374"	"NLRP1"	"OMIM:617388"	"Autoinflammation with arthritis and dyskeratosis"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2017-07-05 00:00:00"	""	""	""	"PMID: 28106320"	"66518"	"2021-03-02"
"GENCC_000101-HGNC_14374-OMIM_615225-HP_0032113-GENCC_100003"	"HGNC:14374"	"NLRP1"	"MONDO:0014089"	"corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	"OMIM:615225"	"Palmoplantar carcinoma, multiple self-healing"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14374"	"NLRP1"	"OMIM:615225"	"Palmoplantar carcinoma, multiple self-healing"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-09-19 13:37:20"	""	""	""	"PMID: 28106320"	"66518"	"2021-03-02"
"GENCC_000101-HGNC_22938-OMIM_611762-HP_0000006-GENCC_100003"	"HGNC:22938"	"NLRP12"	"MONDO:0012724"	"familial cold autoinflammatory syndrome 2"	"OMIM:611762"	"Familial cold autoinflammatory syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22938"	"NLRP12"	"OMIM:611762"	"Familial cold autoinflammatory syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-12 13:37:20"	""	""	""	"PMID: 28106320"	"38116"	"2021-03-02"
"GENCC_000101-HGNC_16473-OMIM_610852-HP_0000007-GENCC_100004"	"HGNC:16473"	"NME8"	"MONDO:0012571"	"primary ciliary dyskinesia 6"	"OMIM:610852"	"?Ciliary dyskinesia, primary, 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16473"	"NME8"	"OMIM:610852"	"Ciliary dyskinesia, primary, 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-29 13:37:21"	""	""	""	"PMID: 28106320"	"78980"	"2021-03-02"
"GENCC_000101-HGNC_7869-OMIM_614937-HP_0000006-GENCC_100004"	"HGNC:7869"	"NOL3"	"MONDO:0100093"	"myoclonus, familial, 1"	"OMIM:614937"	"?Myoclonus, familial, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7869"	"NOL3"	"OMIM:614937"	"Myoclonus, familial, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:21"	""	""	""	"PMID: 28106320"	"5331"	"2021-03-02"
"GENCC_000101-HGNC_14378-OMIM_224230-HP_0000007-GENCC_100004"	"HGNC:14378"	"NOP10"	"MONDO:0009136"	"dyskeratosis congenita, autosomal recessive 1"	"OMIM:224230"	"?Dyskeratosis congenita, autosomal recessive 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14378"	"NOP10"	"OMIM:224230"	"Dyskeratosis congenita, autosomal recessive 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-11 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61011"	"2025-01-17"
"GENCC_000101-HGNC_15911-OMIM_614153-HP_0000006-GENCC_100001"	"HGNC:15911"	"NOP56"	"MONDO:0013594"	"spinocerebellar ataxia type 36"	"OMIM:614153"	"Spinocerebellar ataxia 36"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15911"	"NOP56"	"OMIM:614153"	"Spinocerebellar ataxia 36"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-03-04 13:37:22"	""	""	""	"PMID: 28106320"	"82765"	"2021-03-02"
"GENCC_000101-HGNC_7887-OMIM_618859-HP_0000006-GENCC_100003"	"HGNC:7887"	"NOVA2"	"MONDO:0030024"	"neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities"	"OMIM:618859"	"Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7887"	"NOVA2"	"OMIM:618859"	"Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-26 13:37:22"	""	""	""	"PMID: 28106320"	"0575"	"2021-03-02"
"GENCC_000101-HGNC_14537-OMIM_607625-HP_0000007-GENCC_100002"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"OMIM:607625"	"Niemann-pick disease, type C2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14537"	"NPC2"	"OMIM:607625"	"Niemann-pick disease, type C2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-05 13:37:23"	""	""	""	"PMID: 28106320"	"82744"	"2021-03-02"
"GENCC_000101-HGNC_7944-OMIM_602875-HP_0000007-GENCC_100001"	"HGNC:7944"	"NPR2"	"MONDO:0011275"	"acromesomelic dysplasia 1, Maroteaux type"	"OMIM:602875"	"Acromesomelic dysplasia 1, Maroteaux type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7944"	"NPR2"	"OMIM:602875"	"Acromesomelic dysplasia, Maroteaux type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-23 13:37:23"	""	""	""	"PMID: 28106320"	"0556"	"2021-03-02"
"GENCC_000101-HGNC_7944-OMIM_615923-HP_0000006-GENCC_100003"	"HGNC:7944"	"NPR2"	"MONDO:0014401"	"tall stature-scoliosis-macrodactyly of the great toes syndrome"	"OMIM:615923"	"Epiphyseal chondrodysplasia, Miura type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7944"	"NPR2"	"OMIM:615923"	"Epiphyseal chondrodysplasia, Miura type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:23"	""	""	""	"PMID: 28106320"	"0556"	"2021-03-02"
"GENCC_000101-HGNC_7944-OMIM_616255-HP_0000006-GENCC_100003"	"HGNC:7944"	"NPR2"	"MONDO:0014551"	"short stature with nonspecific skeletal abnormalities"	"OMIM:616255"	"Short stature with nonspecific skeletal abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7944"	"NPR2"	"OMIM:616255"	"Short stature with nonspecific skeletal abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:23"	""	""	""	"PMID: 28106320"	"0556"	"2021-03-02"
"GENCC_000101-HGNC_14124-OMIM_617118-HP_0000006-GENCC_100003"	"HGNC:14124"	"NPRL3"	"MONDO:0014925"	"epilepsy, familial focal, with variable foci 3"	"OMIM:617118"	"Epilepsy, familial focal, with variable foci 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14124"	"NPRL3"	"OMIM:617118"	"Epilepsy, familial focal, with variable foci 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:24"	""	""	""	"PMID: 28106320"	"5898"	"2021-03-02"
"GENCC_000101-HGNC_7960-OMIM_300018-HP_0001417-GENCC_100003"	"HGNC:7960"	"NR0B1"	"MONDO:0010226"	"46,XY sex reversal 2"	"OMIM:300018"	"46XY sex reversal 2, dosage-sensitive"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7960"	"NR0B1"	"OMIM:300018"	"46XY sex reversal 2, dosage-sensitive"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-08-21 00:00:00"	""	""	""	"PMID: 28106320"	"832"	"2021-03-02"
"GENCC_000101-HGNC_7960-OMIM_300200-HP_0001417-GENCC_100001"	"HGNC:7960"	"NR0B1"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"OMIM:300200"	"Adrenal hypoplasia, congenital"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7960"	"NR0B1"	"OMIM:300200"	"Adrenal hypoplasia, congenital"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-07 13:37:24"	""	""	""	"PMID: 28106320"	"832"	"2021-03-02"
"GENCC_000101-HGNC_7976-OMIM_615779-HP_0000006-GENCC_100003"	"HGNC:7976"	"NR2F2"	"MONDO:0014344"	"congenital heart defects, multiple types, 4"	"OMIM:615779"	"Congenital heart defects, multiple types, 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7976"	"NR2F2"	"OMIM:615779"	"Congenital heart defects, multiple types, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-01 13:37:25"	""	""	""	"PMID: 28106320"	"4261"	"2021-03-02"
"GENCC_000101-HGNC_24613-OMIM_618875-HP_0000007-GENCC_100003"	"HGNC:24613"	"NRROS"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"OMIM:618875"	"Seizures, early-onset, with neurodegeneration and brain calcification"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24613"	"NRROS"	"OMIM:618875"	"Seizures, early-onset, with neurodegeneration and brain calcification"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-05 13:37:25"	""	""	""	"PMID: 28106320"	"947954"	"2021-03-02"
"GENCC_000101-HGNC_8021-OMIM_211800-HP_0000007-GENCC_100003"	"HGNC:8021"	"NT5E"	"MONDO:0008895"	"hereditary arterial and articular multiple calcification syndrome"	"OMIM:211800"	"Calcification of joints and arteries"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8021"	"NT5E"	"OMIM:211800"	"Calcification of joints and arteries"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-23 13:37:26"	""	""	""	"PMID: 28106320"	"0324"	"2021-03-02"
"GENCC_000101-HGNC_14288-OMIM_618718-HP_0000007-GENCC_100003"	"HGNC:14288"	"NTNG2"	"MONDO:0032878"	"neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"	"OMIM:618718"	"Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14288"	"NTNG2"	"OMIM:618718"	"Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-11-12 13:37:26"	""	""	""	"PMID: 28106320"	"50165"	"2021-03-02"
"GENCC_000101-HGNC_29914-OMIM_618348-HP_0000007-GENCC_100004"	"HGNC:29914"	"NUP107"	"MONDO:0032692"	"Galloway-Mowat syndrome 7"	"OMIM:618348"	"Galloway-Mowat syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29914"	"NUP107"	"OMIM:618348"	"Galloway-Mowat syndrome 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-29 13:37:27"	""	""	""	"PMID: 28106320"	"74866"	"2021-03-02"
"GENCC_000101-HGNC_29914-OMIM_616730-HP_0000007-GENCC_100003"	"HGNC:29914"	"NUP107"	"MONDO:0014752"	"nephrotic syndrome, type 11"	"OMIM:616730"	"Nephrotic syndrome, type 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29914"	"NUP107"	"OMIM:616730"	"Nephrotic syndrome, type 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-10-13 00:00:00"	""	""	""	"PMID: 28106320"	"74866"	"2021-03-02"
"GENCC_000101-HGNC_29914-OMIM_618078-HP_0000007-GENCC_100004"	"HGNC:29914"	"NUP107"	"MONDO:0054850"	"ovarian dysgenesis 6"	"OMIM:618078"	"?Ovarian dysgenesis 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29914"	"NUP107"	"OMIM:618078"	"Ovarian dysgenesis 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-29 13:37:28"	""	""	""	"PMID: 28106320"	"74866"	"2021-03-02"
"GENCC_000101-HGNC_17859-OMIM_618804-HP_0000007-GENCC_100003"	"HGNC:17859"	"NUP188"	"MONDO:0032926"	"sandestig-stefanova syndrome"	"OMIM:618804"	"Sandestig-Stefanova syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17859"	"NUP188"	"OMIM:618804"	"Sandestig-Stefanova syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-02-22 00:00:00"	""	""	""	"PMID: 28106320"	"69788"	"2021-03-02"
"GENCC_000101-HGNC_8064-OMIM_618426-HP_0000007-GENCC_100004"	"HGNC:8064"	"NUP214"	"MONDO:0032742"	"encephalopathy, acute, infection-induced, susceptibility to, 9"	"OMIM:618426"	"{Encephalopathy, acute, infection-induced, susceptibility to, 9}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8064"	"NUP214"	"OMIM:618426"	"Encephalopathy, acute, infection-induced, susceptibility to, 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-02-25 13:37:28"	""	""	""	"PMID: 28106320"	"5268"	"2021-03-02"
"GENCC_000101-HGNC_8066-OMIM_271930-HP_0000007-GENCC_100004"	"HGNC:8066"	"NUP62"	"MONDO:0010080"	"familial infantile bilateral striatal necrosis"	"OMIM:271930"	"Striatonigral degeneration, infantile"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8066"	"NUP62"	"OMIM:271930"	"Striatonigral degeneration, infantile"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-09-18 13:37:28"	""	""	""	"PMID: 28106320"	"69191"	"2021-03-02"
"GENCC_000101-HGNC_28958-OMIM_616892-HP_0000007-GENCC_100003"	"HGNC:28958"	"NUP93"	"MONDO:0014817"	"nephrotic syndrome, type 12"	"OMIM:616892"	"Nephrotic syndrome, type 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28958"	"NUP93"	"OMIM:616892"	"Nephrotic syndrome, type 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"73708"	"2023-08-19"
"GENCC_000101-HGNC_21042-OMIM_617082-HP_0000007-GENCC_100004"	"HGNC:21042"	"NUS1"	"MONDO:0014904"	"congenital disorder of glycosylation, type IAA"	"OMIM:617082"	"?Congenital disorder of glycosylation, type 1aa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21042"	"NUS1"	"OMIM:617082"	"Congenital disorder of glycosylation, type 1aa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-13 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"72716"	"2025-01-17"
"GENCC_000101-HGNC_21042-OMIM_617831-HP_0000006-GENCC_100001"	"HGNC:21042"	"NUS1"	"MONDO:0030921"	"intellectual disability, autosomal dominant 55, with seizures"	"OMIM:617831"	"Intellectual developmental disorder, autosomal dominant 55, with seizures"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21042"	"NUS1"	"OMIM:617831"	"Intellectual developmental disorder, autosomal dominant 55, with seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-13 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11640"	"2025-01-17"
"GENCC_000101-HGNC_18008-OMIM_618529-HP_0000007-GENCC_100003"	"HGNC:18008"	"NXN"	"MONDO:0032800"	"robinow syndrome, autosomal recessive 2"	"OMIM:618529"	"Robinow syndrome, autosomal recessive 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18008"	"NXN"	"OMIM:618529"	"Robinow syndrome, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-07 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14495"	"2025-01-17"
"GENCC_000101-HGNC_8101-OMIM_203200-HP_0000007-GENCC_100001"	"HGNC:8101"	"OCA2"	"MONDO:0008746"	"oculocutaneous albinism type 2"	"OMIM:203200"	"{Albinism, oculocutaneous, type II, modifier of}"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8101"	"OCA2"	"OMIM:203200"	"Albinism, oculocutaneous, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-23 13:37:31"	""	""	""	"PMID: 28106320"	"0305"	"2021-03-02"
"GENCC_000101-HGNC_8108-OMIM_309000-HP_0001417-GENCC_100001"	"HGNC:8108"	"OCRL"	"MONDO:0010645"	"oculocerebrorenal syndrome"	"OMIM:309000"	"Lowe syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8108"	"OCRL"	"OMIM:309000"	"Lowe syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:37:31"	""	""	""	"PMID: 28106320"	"0376"	"2021-03-02"
"GENCC_000101-HGNC_8108-OMIM_300555-HP_0001417-GENCC_100001"	"HGNC:8108"	"OCRL"	"MONDO:0010359"	"Dent disease type 2"	"OMIM:300555"	"Dent disease 2"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8108"	"OCRL"	"OMIM:300555"	"Dent disease 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:37:31"	""	""	""	"PMID: 28106320"	"0376"	"2021-03-02"
"GENCC_000101-HGNC_8148-OMIM_300486-HP_0001417-GENCC_100002"	"HGNC:8148"	"OPHN1"	"MONDO:0010337"	"X-linked intellectual disability-cerebellar hypoplasia syndrome"	"OMIM:300486"	"Intellectual developmental disorder, X-linked syndromic, Billuart type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8148"	"OPHN1"	"OMIM:300486"	"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-12 13:37:32"	""	""	""	"PMID: 28106320"	"0359"	"2021-03-02"
"GENCC_000101-HGNC_17142-OMIM_613435-HP_0032113-GENCC_100002"	"HGNC:17142"	"OPTN"	"MONDO:0013264"	"amyotrophic lateral sclerosis type 12"	"OMIM:613435"	"Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17142"	"OPTN"	"OMIM:613435"	"Amyotrophic lateral sclerosis 12"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-10-30 13:37:32"	""	""	""	"PMID: 28106320"	"82899"	"2021-03-02"
"GENCC_000101-HGNC_17142-OMIM_137760-HP_0000006-GENCC_100004"	"HGNC:17142"	"OPTN"	"MONDO:0007665"	"glaucoma 1, open angle, E"	"OMIM:137760"	"Glaucoma 1, open angle, E"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17142"	"OPTN"	"OMIM:137760"	"Glaucoma 1, open angle, E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64822"	"2023-08-19"
"GENCC_000101-HGNC_15761-OMIM_616340-HP_0000006-GENCC_100003"	"HGNC:15761"	"OSBPL2"	"MONDO:0014594"	"autosomal dominant nonsyndromic hearing loss 67"	"OMIM:616340"	"Deafness, autosomal dominant 67"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15761"	"OSBPL2"	"OMIM:616340"	"Deafness, autosomal dominant 67"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:32"	""	""	""	"PMID: 28106320"	"3557"	"2021-03-02"
"GENCC_000101-HGNC_8516-OMIM_614945-HP_0000007-GENCC_100003"	"HGNC:8516"	"OTOG"	"MONDO:0013985"	"autosomal recessive nonsyndromic hearing loss 18B"	"OMIM:614945"	"Deafness, autosomal recessive 18B"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8516"	"OTOG"	"OMIM:614945"	"Deafness, autosomal recessive 18B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-09 13:37:33"	""	""	""	"PMID: 28106320"	"902332"	"2021-03-02"
"GENCC_000101-HGNC_8522-OMIM_613986-HP_0000006-GENCC_100003"	"HGNC:8522"	"OTX2"	"MONDO:0013518"	"pituitary hormone deficiency, combined, 6"	"OMIM:613986"	"Pituitary hormone deficiency, combined, 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8522"	"OTX2"	"OMIM:613986"	"Pituitary hormone deficiency, combined, 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:33"	""	""	""	"PMID: 28106320"	"7287"	"2021-03-02"
"GENCC_000101-HGNC_8522-OMIM_610125-HP_0000006-GENCC_100003"	"HGNC:8522"	"OTX2"	"MONDO:0012413"	"syndromic microphthalmia type 5"	"OMIM:610125"	"Microphthalmia, syndromic 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8522"	"OTX2"	"OMIM:610125"	"Microphthalmia, syndromic 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:37:33"	""	""	""	"PMID: 28106320"	"7287"	"2021-03-02"
"GENCC_000101-HGNC_15804-OMIM_122000-HP_0000006-GENCC_100004"	"HGNC:15804"	"OVOL2"	"MONDO:0007378"	"posterior polymorphous corneal dystrophy 1"	"OMIM:122000"	"Corneal dystrophy, posterior polymorphous, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15804"	"OVOL2"	"OMIM:122000"	"Corneal dystrophy, posterior polymorphous, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:34"	""	""	""	"PMID: 28106320"	"75037"	"2021-03-02"
"GENCC_000101-HGNC_15822-OMIM_213000-HP_0000007-GENCC_100003"	"HGNC:15822"	"OXR1"	"MONDO:0008939"	"isolated cerebellar hypoplasia/agenesis"	"OMIM:213000"	"Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15822"	"OXR1"	"OMIM:213000"	"Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-12-05 13:37:34"	""	""	""	"PMID: 28106320"	"77240"	"2021-03-02"
"GENCC_000101-HGNC_15459-OMIM_608224-HP_0000006-GENCC_100004"	"HGNC:15459"	"P2RX2"	"MONDO:0011994"	"autosomal dominant nonsyndromic hearing loss 41"	"OMIM:608224"	"Deafness, autosomal dominant 41"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15459"	"P2RX2"	"OMIM:608224"	"Deafness, autosomal dominant 41"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:34"	""	""	""	"PMID: 28106320"	"66379"	"2021-03-02"
"GENCC_000101-HGNC_8548-OMIM_112240-HP_0000006-GENCC_100003"	"HGNC:8548"	"P4HB"	"MONDO:0007204"	"Cole-Carpenter syndrome 1"	"OMIM:112240"	"Cole-Carpenter syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8548"	"P4HB"	"OMIM:112240"	"Cole-Carpenter syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 13:37:35"	""	""	""	"PMID: 28106320"	"7290"	"2021-03-02"
"GENCC_000101-HGNC_8565-OMIM_164300-HP_0000006-GENCC_100001"	"HGNC:8565"	"PABPN1"	"MONDO:0008116"	"oculopharyngeal muscular dystrophy"	"OMIM:164300"	"Oculopharyngeal muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8565"	"PABPN1"	"OMIM:164300"	"Oculopharyngeal muscular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:37:35"	""	""	""	"PMID: 28106320"	"5821"	"2021-03-02"
"GENCC_000101-HGNC_23794-OMIM_618067-HP_0000006-GENCC_100003"	"HGNC:23794"	"PACS2"	"MONDO:0054845"	"developmental and epileptic encephalopathy, 66"	"OMIM:618067"	"Developmental and epileptic encephalopathy 66"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23794"	"PACS2"	"OMIM:618067"	"Epileptic encephalopathy, early infantile, 66"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-13 13:37:35"	""	""	""	"PMID: 28106320"	"69608"	"2021-03-02"
"GENCC_000101-HGNC_8590-OMIM_618158-HP_0000006-GENCC_100003"	"HGNC:8590"	"PAK1"	"MONDO:0032568"	"intellectual developmental disorder with macrocephaly, seizures, and speech delay"	"OMIM:618158"	"Intellectual developmental disorder with macrocephaly, seizures, and speech delay"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8590"	"PAK1"	"OMIM:618158"	"Intellectual developmental disorder with macrocephaly, seizures, and speech delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-09-06 13:37:36"	""	""	""	"PMID: 28106320"	"7275"	"2021-03-02"
"GENCC_000101-HGNC_8592-OMIM_300558-HP_0001417-GENCC_100003"	"HGNC:8592"	"PAK3"	"MONDO:0010361"	"intellectual disability, X-linked 30"	"OMIM:300558"	"Intellectual developmental disorder, X-linked 30"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8592"	"PAK3"	"OMIM:300558"	"Mental retardation, X-linked 30/47"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-01-31 00:00:00"	""	""	""	"PMID: 28106320"	"7219"	"2021-03-02"
"GENCC_000101-HGNC_26144-OMIM_610832-HP_0000007-GENCC_100002"	"HGNC:26144"	"PALB2"	"MONDO:0012565"	"Fanconi anemia complementation group N"	"OMIM:610832"	"Fanconi anemia, complementation group N"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26144"	"PALB2"	"OMIM:610832"	"Fanconi anemia, complementation group N"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2016-08-05 00:00:00"	""	""	""	"PMID: 28106320"	"43465"	"2021-03-02"
"GENCC_000101-HGNC_26144-OMIM_114480-HP_0000006-GENCC_100001"	"HGNC:26144"	"PALB2"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26144"	"PALB2"	"OMIM:114480"	"Breast cancer, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-04 13:37:36"	""	""	""	"PMID: 28106320"	"43465"	"2021-03-02"
"GENCC_000101-HGNC_29679-OMIM_613320-HP_0000007-GENCC_100004"	"HGNC:29679"	"PAM16"	"MONDO:0013223"	"autosomal recessive spondylometaphyseal dysplasia, Megarbane type"	"OMIM:613320"	"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29679"	"PAM16"	"OMIM:613320"	"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:37"	""	""	""	"PMID: 28106320"	"78267"	"2021-03-02"
"GENCC_000101-HGNC_8604-OMIM_612847-HP_0000007-GENCC_100002"	"HGNC:8604"	"PAPSS2"	"MONDO:0019666"	"spondyloepimetaphyseal dysplasia, PAPSS2 type"	"OMIM:612847"	"Brachyolmia 4 with mild epiphyseal and metaphyseal changes"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8604"	"PAPSS2"	"OMIM:612847"	"Brachyolmia 4 with mild epiphyseal and metaphyseal changes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-28 13:37:37"	""	""	""	"PMID: 28106320"	"3212"	"2021-03-02"
"GENCC_000101-HGNC_8609-OMIM_616353-HP_0000007-GENCC_100003"	"HGNC:8609"	"PARN"	"MONDO:0014600"	"dyskeratosis congenita, autosomal recessive 6"	"OMIM:616353"	"Dyskeratosis congenita, autosomal recessive 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8609"	"PARN"	"OMIM:616353"	"Dyskeratosis congenita, autosomal recessive 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-08-05 00:00:00"	""	""	""	"PMID: 28106320"	"7249"	"2021-03-02"
"GENCC_000101-HGNC_8609-OMIM_616371-HP_0000006-GENCC_100003"	"HGNC:8609"	"PARN"	"MONDO:0014612"	"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4"	"OMIM:616371"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8609"	"PARN"	"OMIM:616371"	"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:37"	""	""	""	"PMID: 28106320"	"7249"	"2021-03-02"
"GENCC_000101-HGNC_8646-OMIM_264070-HP_0000007-GENCC_100003"	"HGNC:8646"	"PCBD1"	"MONDO:0009908"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"OMIM:264070"	"Hyperphenylalaninemia, BH4-deficient, D"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8646"	"PCBD1"	"OMIM:264070"	"Hyperphenylalaninemia, BH4-deficient, D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-08 13:37:38"	""	""	""	"PMID: 28106320"	"7236"	"2021-03-02"
"GENCC_000101-HGNC_14270-OMIM_300088-HP_0001417-GENCC_100001"	"HGNC:14270"	"PCDH19"	"MONDO:0010246"	"developmental and epileptic encephalopathy, 9"	"OMIM:300088"	"Developmental and epileptic encephalopathy 9"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14270"	"PCDH19"	"OMIM:300088"	"Epileptic encephalopathy, early infantile, 9"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-14 13:37:38"	""	""	""	"PMID: 28106320"	"74761"	"2021-03-02"
"GENCC_000101-HGNC_12929-OMIM_618371-HP_0000006-GENCC_100004"	"HGNC:12929"	"PCGF2"	"MONDO:0032707"	"turnpenny-fry syndrome"	"OMIM:618371"	"Turnpenny-Fry syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12929"	"PCGF2"	"OMIM:618371"	"Turnpenny-Fry syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:38"	""	""	""	"PMID: 28106320"	"4429"	"2021-03-02"
"GENCC_000101-HGNC_8725-OMIM_261650-HP_0000007-GENCC_100004"	"HGNC:8725"	"PCK2"	"MONDO:0009864"	"phosphoenolpyruvate carboxykinase deficiency, mitochondrial"	"OMIM:261650"	"PEPCK deficiency, mitochondrial"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8725"	"PCK2"	"OMIM:261650"	"PEPCK deficiency, mitochondrial"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-21 13:37:39"	""	""	""	"PMID: 28106320"	"7821"	"2021-03-02"
"GENCC_000101-HGNC_13406-OMIM_608027-HP_0000007-GENCC_100003"	"HGNC:13406"	"PCLO"	"MONDO:0011948"	"pontocerebellar hypoplasia type 3"	"OMIM:608027"	"Pontocerebellar hypoplasia, type 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13406"	"PCLO"	"OMIM:608027"	"Pontocerebellar hypoplasia, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-19 13:37:39"	""	""	""	"PMID: 28106320"	"64007"	"2021-03-02"
"GENCC_000101-HGNC_16068-OMIM_210720-HP_0000007-GENCC_100001"	"HGNC:16068"	"PCNT"	"MONDO:0008872"	"microcephalic osteodysplastic primordial dwarfism type II"	"OMIM:210720"	"Microcephalic osteodysplastic primordial dwarfism, type II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16068"	"PCNT"	"OMIM:210720"	"Microcephalic osteodysplastic primordial dwarfism, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-11-08 00:00:00"	""	""	""	"PMID: 28106320"	"7881"	"2021-03-02"
"GENCC_000101-HGNC_8756-OMIM_618770-HP_0000007-GENCC_100003"	"HGNC:8756"	"PCYT2"	"MONDO:0032906"	"spastic paraplegia 82, autosomal recessive"	"OMIM:618770"	"Spastic paraplegia 82, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8756"	"PCYT2"	"OMIM:618770"	"Spastic paraplegia 82, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-02 13:37:40"	""	""	""	"PMID: 28106320"	"7599"	"2021-03-02"
"GENCC_000101-HGNC_8772-OMIM_616922-HP_0000006-GENCC_100003"	"HGNC:8772"	"PDE10A"	"MONDO:0014835"	"striatal degeneration, autosomal dominant 2"	"OMIM:616922"	"Striatal degeneration, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8772"	"PDE10A"	"OMIM:616922"	"Striatal degeneration, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-12 13:37:40"	""	""	""	"PMID: 28106320"	"82501"	"2021-03-02"
"GENCC_000101-HGNC_8772-OMIM_616921-HP_0000007-GENCC_100003"	"HGNC:8772"	"PDE10A"	"MONDO:0014834"	"dyskinesia, limb and orofacial, infantile-onset"	"OMIM:616921"	"Dyskinesia, limb and orofacial, infantile-onset"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8772"	"PDE10A"	"OMIM:616921"	"Dyskinesia, limb and orofacial, infantile-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-12 13:37:40"	""	""	""	"PMID: 28106320"	"82501"	"2021-03-02"
"GENCC_000101-HGNC_8776-OMIM_618140-HP_0000006-GENCC_100004"	"HGNC:8776"	"PDE1C"	"MONDO:0029137"	"hearing loss, autosomal dominant 74"	"OMIM:618140"	"?Deafness, autosomal dominant 74"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8776"	"PDE1C"	"OMIM:618140"	"Deafness, autosomal dominant 74"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-11 13:37:41"	""	""	""	"PMID: 28106320"	"7894"	"2021-03-02"
"GENCC_000101-HGNC_8787-OMIM_613093-HP_0000007-GENCC_100002"	"HGNC:8787"	"PDE6C"	"MONDO:0013129"	"cone dystrophy 4"	"OMIM:613093"	"Cone dystrophy 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8787"	"PDE6C"	"OMIM:613093"	"Cone dystrophy 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-08 13:37:41"	""	""	""	"PMID: 28106320"	"7801"	"2021-03-02"
"GENCC_000101-HGNC_8800-OMIM_615483-HP_0000006-GENCC_100003"	"HGNC:8800"	"PDGFB"	"MONDO:0014204"	"basal ganglia calcification, idiopathic, 5"	"OMIM:615483"	"Basal ganglia calcification, idiopathic, 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8800"	"PDGFB"	"OMIM:615483"	"Basal ganglia calcification, idiopathic, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:37:41"	""	""	""	"PMID: 28106320"	"7877"	"2021-03-02"
"GENCC_000101-HGNC_8800-OMIM_607174-HP_0000006-GENCC_100004"	"HGNC:8800"	"PDGFB"	"MONDO:0011789"	"familial meningioma"	"OMIM:607174"	"Meningioma, SIS-related"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8800"	"PDGFB"	"OMIM:607174"	"Meningioma, SIS-related"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:42"	""	""	""	"PMID: 28106320"	"7877"	"2021-03-02"
"GENCC_000101-HGNC_8806-OMIM_312170-HP_0000007-GENCC_100002"	"HGNC:8806"	"PDHA1"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"OMIM:312170"	"Pyruvate dehydrogenase E1-alpha deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8806"	"PDHA1"	"OMIM:312170"	"Pyruvate dehydrogenase E1-alpha deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:37:42"	""	""	""	"PMID: 28106320"	"7812"	"2021-03-02"
"GENCC_000101-HGNC_21350-OMIM_245349-HP_0000007-GENCC_100002"	"HGNC:21350"	"PDHX"	"MONDO:0009503"	"pyruvate dehydrogenase E3-binding protein deficiency"	"OMIM:245349"	"Lacticacidemia due to PDX1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21350"	"PDHX"	"OMIM:245349"	"Lacticacidemia due to PDX1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-26 13:37:42"	""	""	""	"PMID: 28106320"	"5272"	"2021-03-02"
"GENCC_000101-HGNC_8811-OMIM_300905-HP_0001417-GENCC_100004"	"HGNC:8811"	"PDK3"	"MONDO:0010479"	"Charcot-Marie-Tooth disease X-linked dominant 6"	"OMIM:300905"	"?Charcot-Marie-Tooth disease, X-linked dominant, 6"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8811"	"PDK3"	"OMIM:300905"	"Charcot-Marie-Tooth disease, X-linked dominant, 6"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:37:42"	""	""	""	"PMID: 28106320"	"7817"	"2021-03-02"
"GENCC_000101-HGNC_9279-OMIM_608782-HP_0000007-GENCC_100003"	"HGNC:9279"	"PDP1"	"MONDO:0012120"	"pyruvate dehydrogenase phosphatase deficiency"	"OMIM:608782"	"Pyruvate dehydrogenase phosphatase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9279"	"PDP1"	"OMIM:608782"	"Pyruvate dehydrogenase phosphatase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-23 13:37:42"	""	""	""	"PMID: 28106320"	"70420"	"2021-03-02"
"GENCC_000101-HGNC_17759-OMIM_614651-HP_0000007-GENCC_100003"	"HGNC:17759"	"PDSS1"	"MONDO:0013837"	"deafness-encephaloneuropathy-obesity-valvulopathy syndrome"	"OMIM:614651"	"Coenzyme Q10 deficiency, primary, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17759"	"PDSS1"	"OMIM:614651"	"Coenzyme Q10 deficiency, primary, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-23 13:37:43"	""	""	""	"PMID: 28106320"	"69732"	"2021-03-02"
"GENCC_000101-HGNC_6107-OMIM_606392-HP_0000006-GENCC_100001"	"HGNC:6107"	"PDX1"	"MONDO:0011667"	"maturity-onset diabetes of the young type 4"	"OMIM:606392"	"MODY, type IV"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6107"	"PDX1"	"OMIM:606392"	"MODY, type IV"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-26 13:37:43"	""	""	""	"PMID: 28106320"	"9178"	"2021-03-02"
"GENCC_000101-HGNC_6107-OMIM_260370-HP_0000007-GENCC_100003"	"HGNC:6107"	"PDX1"	"MONDO:0024547"	"pancreatic agenesis 1"	"OMIM:260370"	"Pancreatic agenesis 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6107"	"PDX1"	"OMIM:260370"	"Pancreatic agenesis 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-02-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11067"	"2023-08-19"
"GENCC_000101-HGNC_40038-OMIM_619055-HP_0000007-GENCC_100002"	"HGNC:40038"	"PET100"	"MONDO:0033646"	"mitochondrial complex 4 deficiency, nuclear type 12"	"OMIM:619055"	"Mitochondrial complex IV deficiency, nuclear type 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:40038"	"PET100"	"OMIM:619055"	"Mitochondrial complex IV deficiency, nuclear type 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:37:43"	""	""	""	"PMID: 28106320"	"822898528"	"2021-03-02"
"GENCC_000101-HGNC_8850-OMIM_234580-HP_0000007-GENCC_100003"	"HGNC:8850"	"PEX1"	"MONDO:0024544"	"Heimler syndrome 1"	"OMIM:234580"	"Heimler syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8850"	"PEX1"	"OMIM:234580"	"Heimler syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-07-10 00:00:00"	""	""	""	"PMID: 28106320"	"7853"	"2021-03-02"
"GENCC_000101-HGNC_8850-OMIM_214100-HP_0000007-GENCC_100001"	"HGNC:8850"	"PEX1"	"MONDO:0008953"	"peroxisome biogenesis disorder 1A (Zellweger)"	"OMIM:214100"	"Peroxisome biogenesis disorder 1A (Zellweger)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8850"	"PEX1"	"OMIM:214100"	"Peroxisome biogenesis disorder 1A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-07-10 00:00:00"	""	""	""	"PMID: 28106320"	"7853"	"2021-03-02"
"GENCC_000101-HGNC_8850-OMIM_601539-HP_0000007-GENCC_100003"	"HGNC:8850"	"PEX1"	"MONDO:0011101"	"peroxisome biogenesis disorder 1B"	"OMIM:601539"	"Peroxisome biogenesis disorder 1B (NALD/IRD)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8850"	"PEX1"	"OMIM:601539"	"Peroxisome biogenesis disorder 1B (NALD/IRD)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:44"	""	""	""	"PMID: 28106320"	"7853"	"2021-03-02"
"GENCC_000101-HGNC_8857-OMIM_614877-HP_0000007-GENCC_100003"	"HGNC:8857"	"PEX16"	"MONDO:0013943"	"peroxisome biogenesis disorder 8B"	"OMIM:614877"	"Peroxisome biogenesis disorder 8B"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8857"	"PEX16"	"OMIM:614877"	"Peroxisome biogenesis disorder 8B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-13 13:37:44"	""	""	""	"PMID: 28106320"	"3023"	"2021-03-02"
"GENCC_000101-HGNC_8857-OMIM_614876-HP_0000007-GENCC_100003"	"HGNC:8857"	"PEX16"	"MONDO:0013942"	"peroxisome biogenesis disorder 8A (Zellweger)"	"OMIM:614876"	"Peroxisome biogenesis disorder 8A (Zellweger)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8857"	"PEX16"	"OMIM:614876"	"Peroxisome biogenesis disorder 8A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-13 13:37:45"	""	""	""	"PMID: 28106320"	"3023"	"2021-03-02"
"GENCC_000101-HGNC_9717-OMIM_614867-HP_0000007-GENCC_100002"	"HGNC:9717"	"PEX2"	"MONDO:0013933"	"peroxisome biogenesis disorder 5B"	"OMIM:614867"	"Peroxisome biogenesis disorder 5B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9717"	"PEX2"	"OMIM:614867"	"Peroxisome biogenesis disorder 5B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-05 13:37:45"	""	""	""	"PMID: 28106320"	"7565"	"2021-03-02"
"GENCC_000101-HGNC_22965-OMIM_614873-HP_0000007-GENCC_100002"	"HGNC:22965"	"PEX26"	"MONDO:0013939"	"peroxisome biogenesis disorder 7B"	"OMIM:614873"	"Peroxisome biogenesis disorder 7B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22965"	"PEX26"	"OMIM:614873"	"Peroxisome biogenesis disorder 7B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-30 13:37:46"	""	""	""	"PMID: 28106320"	"77142"	"2021-03-02"
"GENCC_000101-HGNC_8858-OMIM_614882-HP_0000007-GENCC_100003"	"HGNC:8858"	"PEX3"	"MONDO:0013948"	"peroxisome biogenesis disorder 10A (Zellweger)"	"OMIM:614882"	"Peroxisome biogenesis disorder 10A (Zellweger)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8858"	"PEX3"	"OMIM:614882"	"Peroxisome biogenesis disorder 10A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-07-10 00:00:00"	""	""	""	"PMID: 28106320"	"5720"	"2021-03-02"
"GENCC_000101-HGNC_9719-OMIM_214110-HP_0000007-GENCC_100003"	"HGNC:9719"	"PEX5"	"MONDO:0008954"	"peroxisome biogenesis disorder 2A (Zellweger)"	"OMIM:214110"	"Peroxisome biogenesis disorder 2A (Zellweger)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9719"	"PEX5"	"OMIM:214110"	"Peroxisome biogenesis disorder 2A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:47"	""	""	""	"PMID: 28106320"	"7592"	"2021-03-02"
"GENCC_000101-HGNC_9719-OMIM_616716-HP_0000007-GENCC_100004"	"HGNC:9719"	"PEX5"	"MONDO:0014743"	"rhizomelic chondrodysplasia punctata type 5"	"OMIM:616716"	"Rhizomelic chondrodysplasia punctata, type 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9719"	"PEX5"	"OMIM:616716"	"Rhizomelic chondrodysplasia punctata, type 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:47"	""	""	""	"PMID: 28106320"	"7592"	"2021-03-02"
"GENCC_000101-HGNC_8860-OMIM_614879-HP_0000007-GENCC_100003"	"HGNC:8860"	"PEX7"	"MONDO:0013945"	"peroxisome biogenesis disorder 9B"	"OMIM:614879"	"Peroxisome biogenesis disorder 9B"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8860"	"PEX7"	"OMIM:614879"	"Peroxisome biogenesis disorder 9B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:48"	""	""	""	"PMID: 28106320"	"7838"	"2021-03-02"
"GENCC_000101-HGNC_8860-OMIM_215100-HP_0000007-GENCC_100001"	"HGNC:8860"	"PEX7"	"MONDO:0008972"	"rhizomelic chondrodysplasia punctata type 1"	"OMIM:215100"	"Rhizomelic chondrodysplasia punctata, type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8860"	"PEX7"	"OMIM:215100"	"Rhizomelic chondrodysplasia punctata, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:37:48"	""	""	""	"PMID: 28106320"	"7838"	"2021-03-02"
"GENCC_000101-HGNC_8877-OMIM_232800-HP_0000007-GENCC_100001"	"HGNC:8877"	"PFKM"	"MONDO:0009295"	"glycogen storage disease VII"	"OMIM:232800"	"Glycogen storage disease VII"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8877"	"PFKM"	"OMIM:232800"	"Glycogen storage disease VII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:37:48"	""	""	""	"PMID: 28106320"	"7689"	"2021-03-02"
"GENCC_000101-HGNC_8881-OMIM_614808-HP_0000006-GENCC_100003"	"HGNC:8881"	"PFN1"	"MONDO:0013891"	"amyotrophic lateral sclerosis type 18"	"OMIM:614808"	"Amyotrophic lateral sclerosis 18"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8881"	"PFN1"	"OMIM:614808"	"Amyotrophic lateral sclerosis 18"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-23 13:37:48"	""	""	""	"PMID: 28106320"	"7681"	"2021-03-02"
"GENCC_000101-HGNC_24156-OMIM_618725-HP_0000006-GENCC_100003"	"HGNC:24156"	"PHF21A"	"MONDO:0032883"	"intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures"	"OMIM:618725"	"Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24156"	"PHF21A"	"OMIM:618725"	"Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-04 13:37:49"	""	""	""	"PMID: 28106320"	"78984"	"2021-03-02"
"GENCC_000101-HGNC_15673-OMIM_617991-HP_0000006-GENCC_100001"	"HGNC:15673"	"PHIP"	"MONDO:0060712"	"developmental delay, intellectual disability, obesity, and dysmorphic features"	"OMIM:617991"	"Chung-Jansen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15673"	"PHIP"	"OMIM:617991"	"Chung-Jansen syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-29 13:37:49"	""	""	""	"PMID: 28106320"	"77269"	"2021-03-02"
"GENCC_000101-HGNC_8926-OMIM_306000-HP_0001417-GENCC_100001"	"HGNC:8926"	"PHKA2"	"MONDO:0010598"	"glycogen storage disease IXa1"	"OMIM:306000"	"Glycogen storage disease, type IXa1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8926"	"PHKA2"	"OMIM:306000"	"Glycogen storage disease, type IXa1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:37:49"	""	""	""	"PMID: 28106320"	"7671"	"2021-03-02"
"GENCC_000101-HGNC_26270-OMIM_248700-HP_0000006-GENCC_100003"	"HGNC:26270"	"PIEZO2"	"MONDO:0009564"	"Marden-Walker syndrome"	"OMIM:248700"	"?Marden-Walker syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26270"	"PIEZO2"	"OMIM:248700"	"Marden-Walker syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-17 13:37:50"	""	""	""	"PMID: 28106320"	"19537"	"2021-03-02"
"GENCC_000101-HGNC_26270-OMIM_114300-HP_0000006-GENCC_100003"	"HGNC:26270"	"PIEZO2"	"MONDO:0007252"	"Gordon syndrome"	"OMIM:114300"	"Arthrogryposis, distal, type 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26270"	"PIEZO2"	"OMIM:114300"	"Arthrogryposis, distal, type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-17 13:37:50"	""	""	""	"PMID: 28106320"	"19537"	"2021-03-02"
"GENCC_000101-HGNC_26270-OMIM_108145-HP_0000006-GENCC_100003"	"HGNC:26270"	"PIEZO2"	"MONDO:0007158"	"arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome"	"OMIM:108145"	"Arthrogryposis, distal, type 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26270"	"PIEZO2"	"OMIM:108145"	"Arthrogryposis, distal, type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-17 13:37:50"	""	""	""	"PMID: 28106320"	"19537"	"2021-03-02"
"GENCC_000101-HGNC_26270-OMIM_617146-HP_0000007-GENCC_100003"	"HGNC:26270"	"PIEZO2"	"MONDO:0014941"	"arthrogryposis, distal, with impaired proprioception and touch"	"OMIM:617146"	"Arthrogryposis, distal, with impaired proprioception and touch"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26270"	"PIEZO2"	"OMIM:617146"	"Arthrogryposis, distal, with impaired proprioception and touch"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-02-09 00:00:00"	""	""	""	"PMID: 28106320"	"19537"	"2021-03-02"
"GENCC_000101-HGNC_8959-OMIM_618580-HP_0000007-GENCC_100003"	"HGNC:8959"	"PIGB"	"MONDO:0032822"	"developmental and epileptic encephalopathy, 80"	"OMIM:618580"	"Developmental and epileptic encephalopathy 80"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8959"	"PIGB"	"OMIM:618580"	"Developmental and epileptic encephalopathy 80"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-28 13:37:51"	""	""	""	"PMID: 28106320"	"3055"	"2021-03-02"
"GENCC_000101-HGNC_8964-OMIM_618010-HP_0000007-GENCC_100004"	"HGNC:8964"	"PIGH"	"MONDO:0060724"	"glycosylphosphatidylinositol biosynthesis defect 17"	"OMIM:618010"	"Glycosylphosphatidylinositol biosynthesis defect 17"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8964"	"PIGH"	"OMIM:618010"	"Glycosylphosphatidylinositol biosynthesis defect 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-04 13:37:51"	""	""	""	"PMID: 28106320"	"7659"	"2021-03-02"
"GENCC_000101-HGNC_8966-OMIM_280000-HP_0000007-GENCC_100004"	"HGNC:8966"	"PIGL"	"MONDO:0010221"	"CHIME syndrome"	"OMIM:280000"	"CHIME syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8966"	"PIGL"	"OMIM:280000"	"CHIME syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:51"	""	""	""	"PMID: 28106320"	"3054"	"2021-03-02"
"GENCC_000101-HGNC_8967-OMIM_614080-HP_0000007-GENCC_100003"	"HGNC:8967"	"PIGN"	"MONDO:0013563"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"OMIM:614080"	"Multiple congenital anomalies-hypotonia-seizures syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8967"	"PIGN"	"OMIM:614080"	"Multiple congenital anomalies-hypotonia-seizures syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-27 13:37:51"	""	""	""	"PMID: 28106320"	"69771"	"2021-03-02"
"GENCC_000101-HGNC_3046-OMIM_617599-HP_0000007-GENCC_100003"	"HGNC:3046"	"PIGP"	"MONDO:0033364"	"developmental and epileptic encephalopathy, 55"	"OMIM:617599"	"Developmental and epileptic encephalopathy 55"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3046"	"PIGP"	"OMIM:617599"	"Developmental and epileptic encephalopathy 55"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-14 13:37:51"	""	""	""	"PMID: 28106320"	"78664"	"2021-03-02"
"GENCC_000101-HGNC_14135-OMIM_618548-HP_0000007-GENCC_100003"	"HGNC:14135"	"PIGQ"	"MONDO:0032808"	"developmental and epileptic encephalopathy, 77"	"OMIM:618548"	"Multiple congenital anomalies-hypotonia-seizures syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14135"	"PIGQ"	"OMIM:618548"	"Epileptic encephalopathy, early infantile, 77"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-23 13:37:51"	""	""	""	"PMID: 28106320"	"3238"	"2021-03-02"
"GENCC_000101-HGNC_14937-OMIM_618143-HP_0000007-GENCC_100003"	"HGNC:14937"	"PIGS"	"MONDO:0029140"	"glycosylphosphatidylinositol biosynthesis defect 18"	"OMIM:618143"	"Developmental and epileptic encephalopathy 95"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14937"	"PIGS"	"OMIM:618143"	"Glycosylphosphatidylinositol biosynthesis defect 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-10-01 13:37:51"	""	""	""	"PMID: 28106320"	"30227"	"2021-03-02"
"GENCC_000101-HGNC_14938-OMIM_615398-HP_0000007-GENCC_100002"	"HGNC:14938"	"PIGT"	"MONDO:0014165"	"multiple congenital anomalies-hypotonia-seizures syndrome 3"	"OMIM:615398"	"Multiple congenital anomalies-hypotonia-seizures syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14938"	"PIGT"	"OMIM:615398"	"Multiple congenital anomalies-hypotonia-seizures syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-05-03 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74584"	"2025-01-17"
"GENCC_000101-HGNC_15791-OMIM_618590-HP_0000007-GENCC_100003"	"HGNC:15791"	"PIGU"	"MONDO:0032824"	"glycosylphosphatidylinositol biosynthesis defect 21"	"OMIM:618590"	"Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15791"	"PIGU"	"OMIM:618590"	"Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-08-01 13:37:51"	""	""	""	"PMID: 28106320"	"865513"	"2021-03-02"
"GENCC_000101-HGNC_23213-OMIM_616025-HP_0000007-GENCC_100003"	"HGNC:23213"	"PIGW"	"MONDO:0014457"	"hyperphosphatasia with intellectual disability syndrome 5"	"OMIM:616025"	"Glycosylphosphatidylinositol biosynthesis defect 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23213"	"PIGW"	"OMIM:616025"	"Glycosylphosphatidylinositol biosynthesis defect 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:51"	""	""	""	"PMID: 28106320"	"650235"	"2021-03-02"
"GENCC_000101-HGNC_8999-OMIM_618889-HP_0000007-GENCC_100004"	"HGNC:8999"	"PISD"	"MONDO:0030045"	"Liberfarb syndrome"	"OMIM:618889"	"Liberfarb syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8999"	"PISD"	"OMIM:618889"	"Liberfarb syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-27 13:37:52"	""	""	""	"PMID: 28106320"	"69418"	"2021-03-02"
"GENCC_000101-HGNC_9006-OMIM_107250-HP_0000006-GENCC_100003"	"HGNC:9006"	"PITX3"	"MONDO:0007138"	"anterior segment dysgenesis 1"	"OMIM:107250"	"Anterior segment dysgenesis 1, multiple subtypes"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9006"	"PITX3"	"OMIM:107250"	"Anterior segment dysgenesis 1, multiple subtypes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-02 13:37:52"	""	""	""	"PMID: 28106320"	"7923"	"2021-03-02"
"GENCC_000101-HGNC_18053-OMIM_617205-HP_0000007-GENCC_100003"	"HGNC:18053"	"PKD1L1"	"MONDO:0014967"	"heterotaxy, visceral, 8, autosomal"	"OMIM:617205"	"Heterotaxy, visceral, 8, autosomal"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18053"	"PKD1L1"	"OMIM:617205"	"Heterotaxy, visceral, 8, autosomal"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-02-25 13:37:52"	""	""	""	"PMID: 28106320"	"815724"	"2021-03-02"
"GENCC_000101-HGNC_9039-OMIM_256600-HP_0000007-GENCC_100001"	"HGNC:9039"	"PLA2G6"	"MONDO:0024457"	"neurodegeneration with brain iron accumulation 2A"	"OMIM:256600"	"Infantile neuroaxonal dystrophy 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9039"	"PLA2G6"	"OMIM:256600"	"Infantile neuroaxonal dystrophy 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-12 13:37:52"	""	""	""	"PMID: 28106320"	"5935"	"2021-03-02"
"GENCC_000101-HGNC_9039-OMIM_610217-HP_0000007-GENCC_100001"	"HGNC:9039"	"PLA2G6"	"MONDO:0012444"	"neurodegeneration with brain iron accumulation 2B"	"OMIM:610217"	"Neurodegeneration with brain iron accumulation 2B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9039"	"PLA2G6"	"OMIM:610217"	"Neurodegeneration with brain iron accumulation 2B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-08-21 00:00:00"	""	""	""	"PMID: 28106320"	"5935"	"2021-03-02"
"GENCC_000101-HGNC_9039-OMIM_612953-HP_0000007-GENCC_100003"	"HGNC:9039"	"PLA2G6"	"MONDO:0013060"	"autosomal recessive Parkinson disease 14"	"OMIM:612953"	"Parkinson disease 14, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9039"	"PLA2G6"	"OMIM:612953"	"Parkinson disease 14, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-12 13:37:53"	""	""	""	"PMID: 28106320"	"5935"	"2021-03-02"
"GENCC_000101-HGNC_9052-OMIM_601709-HP_0000006-GENCC_100004"	"HGNC:9052"	"PLAU"	"MONDO:0011136"	"Quebec platelet disorder"	"OMIM:601709"	"Quebec platelet disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9052"	"PLAU"	"OMIM:601709"	"Quebec platelet disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:53"	""	""	""	"PMID: 28106320"	"7965"	"2021-03-02"
"GENCC_000101-HGNC_15917-OMIM_613722-HP_0000007-GENCC_100003"	"HGNC:15917"	"PLCB1"	"MONDO:0013389"	"developmental and epileptic encephalopathy, 12"	"OMIM:613722"	"Developmental and epileptic encephalopathy 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15917"	"PLCB1"	"OMIM:613722"	"Developmental and epileptic encephalopathy 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-14 13:37:53"	""	""	""	"PMID: 28106320"	"69691"	"2021-03-02"
"GENCC_000101-HGNC_9059-OMIM_614669-HP_0032113-GENCC_100003"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"OMIM:614669"	"Auriculocondylar syndrome 2A"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9059"	"PLCB4"	"OMIM:614669"	"Auriculocondylar syndrome 2"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-26 13:37:53"	""	""	""	"PMID: 28106320"	"7996"	"2021-03-02"
"GENCC_000101-HGNC_17175-OMIM_610725-HP_0000007-GENCC_100002"	"HGNC:17175"	"PLCE1"	"MONDO:0012546"	"nephrotic syndrome, type 3"	"OMIM:610725"	"Nephrotic syndrome, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17175"	"PLCE1"	"OMIM:610725"	"Nephrotic syndrome, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-24 13:37:53"	""	""	""	"PMID: 28106320"	"78831"	"2021-03-02"
"GENCC_000101-HGNC_29515-OMIM_616763-HP_0000007-GENCC_100004"	"HGNC:29515"	"PLEKHG2"	"MONDO:0014766"	"leukodystrophy and acquired microcephaly with or without dystonia;"	"OMIM:616763"	"Leukodystrophy and acquired microcephaly with or without dystonia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29515"	"PLEKHG2"	"OMIM:616763"	"Leukodystrophy and acquired microcephaly with or without dystonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-27 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"12363"	"2025-01-17"
"GENCC_000101-HGNC_29017-OMIM_618107-HP_0000006-GENCC_100004"	"HGNC:29017"	"PLEKHM1"	"MONDO:0020848"	"osteopetrosis, autosomal dominant 3"	"OMIM:618107"	"Osteopetrosis, autosomal dominant 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29017"	"PLEKHM1"	"OMIM:618107"	"Osteopetrosis, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:54"	""	""	""	"PMID: 28106320"	"3506"	"2021-03-02"
"GENCC_000101-HGNC_29017-OMIM_611497-HP_0000007-GENCC_100004"	"HGNC:29017"	"PLEKHM1"	"MONDO:0012679"	"autosomal recessive osteopetrosis 6"	"OMIM:611497"	"?Osteopetrosis, autosomal recessive 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29017"	"PLEKHM1"	"OMIM:611497"	"Osteopetrosis, autosomal recessive 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:37:55"	""	""	""	"PMID: 28106320"	"3506"	"2021-03-02"
"GENCC_000101-HGNC_9076-OMIM_613877-HP_0000006-GENCC_100005"	"HGNC:9076"	"PLIN1"	"MONDO:0013478"	"PLIN1-related familial partial lipodystrophy"	"OMIM:613877"	"Lipodystrophy, familial partial, type 4"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9076"	"PLIN1"	"OMIM:613877"	"Lipodystrophy, familial partial, type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2018-11-15 13:37:55"	""	""	""	"PMID: 28106320"	"7901"	"2021-03-02"
"GENCC_000101-HGNC_9080-OMIM_609909-HP_0000006-GENCC_100002"	"HGNC:9080"	"PLN"	"MONDO:0012362"	"dilated cardiomyopathy 1P"	"OMIM:609909"	"Cardiomyopathy, dilated, 1P"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9080"	"PLN"	"OMIM:609909"	"Cardiomyopathy, dilated, 1P"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-06-20 00:00:00"	""	""	""	"PMID: 28106320"	"7972"	"2021-03-02"
"GENCC_000101-HGNC_9080-OMIM_613874-HP_0000006-GENCC_100004"	"HGNC:9080"	"PLN"	"MONDO:0013475"	"hypertrophic cardiomyopathy 18"	"OMIM:613874"	"Cardiomyopathy, hypertrophic, 18"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9080"	"PLN"	"OMIM:613874"	"Cardiomyopathy, hypertrophic, 18"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 13:37:56"	""	""	""	"PMID: 28106320"	"7972"	"2021-03-02"
"GENCC_000101-HGNC_9083-OMIM_612394-HP_0000007-GENCC_100003"	"HGNC:9083"	"PLOD3"	"MONDO:0012892"	"bone fragility with contractures, arterial rupture, and deafness"	"OMIM:612394"	"BCARD syndrome (lysyl hydroxylase 3 deficiency)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9083"	"PLOD3"	"OMIM:612394"	"Lysyl hydroxylase 3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-12-05 13:37:56"	""	""	""	"PMID: 28106320"	"5357"	"2021-03-02"
"GENCC_000101-HGNC_9086-OMIM_312080-HP_0001417-GENCC_100001"	"HGNC:9086"	"PLP1"	"MONDO:0010714"	"Pelizeaus-Merzbacher spectrum disorder"	"OMIM:312080"	"Pelizaeus-Merzbacher disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9086"	"PLP1"	"OMIM:312080"	"Pelizaeus-Merzbacher disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-05 13:37:56"	""	""	""	"PMID: 28106320"	"7970"	"2021-03-02"
"GENCC_000101-HGNC_9086-OMIM_312920-HP_0001417-GENCC_100003"	"HGNC:9086"	"PLP1"	"MONDO:0010733"	"hereditary spastic paraplegia 2"	"OMIM:312920"	"Spastic paraplegia 2, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9086"	"PLP1"	"OMIM:312920"	"Spastic paraplegia 2, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-06 13:37:56"	""	""	""	"PMID: 28106320"	"7970"	"2021-03-02"
"GENCC_000101-HGNC_13635-OMIM_618183-HP_0000007-GENCC_100003"	"HGNC:13635"	"PLVAP"	"MONDO:0032586"	"diarrhea 10, protein-losing enteropathy type"	"OMIM:618183"	"Diarrhea 10, protein-losing enteropathy type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13635"	"PLVAP"	"OMIM:618183"	"Diarrhea 10, protein-losing enteropathy type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-11 13:37:56"	""	""	""	"PMID: 28106320"	"59059"	"2021-03-02"
"GENCC_000101-HGNC_17728-OMIM_618112-HP_0000007-GENCC_100004"	"HGNC:17728"	"PMFBP1"	"MONDO:0020852"	"spermatogenic failure 31"	"OMIM:618112"	"Spermatogenic failure 31"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17728"	"PMFBP1"	"OMIM:618112"	"Spermatogenic failure 31"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-28 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11165"	"2024-01-02"
"GENCC_000101-HGNC_9117-OMIM_618279-HP_0000006-GENCC_100003"	"HGNC:9117"	"PMP2"	"MONDO:0033135"	"Charcot-Marie-Tooth disease, demyelinating, type 1G"	"OMIM:618279"	"Charcot-Marie-Tooth disease, demyelinating, type 1G"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9117"	"PMP2"	"OMIM:618279"	"Charcot-Marie-Tooth disease, demyelinating, type 1G"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-10 13:37:57"	""	""	""	"PMID: 28106320"	"7947"	"2021-03-02"
"GENCC_000101-HGNC_9118-OMIM_118220-HP_0000006-GENCC_100001"	"HGNC:9118"	"PMP22"	"MONDO:0007309"	"Charcot-Marie-Tooth disease type 1A"	"OMIM:118220"	"Charcot-Marie-Tooth disease, type 1A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9118"	"PMP22"	"OMIM:118220"	"Charcot-Marie-Tooth disease, type 1A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 13:37:58"	""	""	""	"PMID: 28106320"	"7941"	"2021-03-02"
"GENCC_000101-HGNC_9118-OMIM_162500-HP_0000006-GENCC_100001"	"HGNC:9118"	"PMP22"	"MONDO:0008087"	"hereditary neuropathy with liability to pressure palsies"	"OMIM:162500"	"Neuropathy, recurrent, with pressure palsies"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9118"	"PMP22"	"OMIM:162500"	"Neuropathy, recurrent, with pressure palsies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:37:58"	""	""	""	"PMID: 28106320"	"7941"	"2021-03-02"
"GENCC_000101-HGNC_9118-OMIM_118300-HP_0000006-GENCC_100003"	"HGNC:9118"	"PMP22"	"MONDO:0007311"	"Charcot-Marie-Tooth disease type 1E"	"OMIM:118300"	"Charcot-Marie-Tooth disease, type 1E"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9118"	"PMP22"	"OMIM:118300"	"Charcot-Marie-Tooth disease, type 1E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 13:37:58"	""	""	""	"PMID: 28106320"	"7941"	"2021-03-02"
"GENCC_000101-HGNC_18667-OMIM_213200-HP_0000007-GENCC_100003"	"HGNC:18667"	"PMPCA"	"MONDO:0008943"	"autosomal recessive spinocerebellar ataxia 2"	"OMIM:213200"	"Spinocerebellar ataxia, autosomal recessive 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18667"	"PMPCA"	"OMIM:213200"	"Spinocerebellar ataxia, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:37:59"	""	""	""	"PMID: 28106320"	"69629"	"2021-03-02"
"GENCC_000101-HGNC_9119-OMIM_617954-HP_0000007-GENCC_100003"	"HGNC:9119"	"PMPCB"	"MONDO:0054785"	"multiple mitochondrial dysfunctions syndrome 6"	"OMIM:617954"	"Multiple mitochondrial dysfunctions syndrome 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9119"	"PMPCB"	"OMIM:617954"	"Multiple mitochondrial dysfunctions syndrome 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-29 13:37:59"	""	""	""	"PMID: 28106320"	"3786"	"2021-03-02"
"GENCC_000101-HGNC_9155-OMIM_614338-HP_0000007-GENCC_100004"	"HGNC:9155"	"PNLIP"	"MONDO:0013700"	"pancreatic triacylglycerol lipase deficiency"	"OMIM:614338"	"?Pancreatic lipase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9155"	"PNLIP"	"OMIM:614338"	"Pancreatic lipase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-26 13:37:59"	""	""	""	"PMID: 28106320"	"7021"	"2021-03-02"
"GENCC_000101-HGNC_30802-OMIM_610717-HP_0000007-GENCC_100002"	"HGNC:30802"	"PNPLA2"	"MONDO:0012545"	"neutral lipid storage myopathy"	"OMIM:610717"	"Neutral lipid storage disease with myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30802"	"PNPLA2"	"OMIM:610717"	"Neutral lipid storage disease with myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 13:38:00"	""	""	""	"PMID: 28106320"	"74820"	"2021-03-02"
"GENCC_000101-HGNC_28900-OMIM_251950-HP_0000007-GENCC_100002"	"HGNC:28900"	"PNPLA8"	"MONDO:0016825"	"mitochondrial myopathy-lactic acidosis-deafness syndrome"	"OMIM:251950"	"?Mitochondrial myopathy with lactic acidosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28900"	"PNPLA8"	"OMIM:251950"	"Mitochondrial myopathy with lactic acidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-12-14 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71834"	"2025-01-17"
"GENCC_000101-HGNC_14988-OMIM_615327-HP_0000006-GENCC_100003"	"HGNC:14988"	"POFUT1"	"MONDO:0014130"	"Dowling-Degos disease 2"	"OMIM:615327"	"Dowling-Degos disease 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14988"	"POFUT1"	"OMIM:615327"	"Dowling-Degos disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-21 13:38:01"	""	""	""	"PMID: 28106320"	"69723"	"2021-03-02"
"GENCC_000101-HGNC_22954-OMIM_615696-HP_0000006-GENCC_100003"	"HGNC:22954"	"POGLUT1"	"MONDO:0014307"	"Dowling-Degos disease 4"	"OMIM:615696"	"Dowling-Degos disease 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22954"	"POGLUT1"	"OMIM:615696"	"Dowling-Degos disease 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-02 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78793"	"2025-01-17"
"GENCC_000101-HGNC_9173-OMIM_301220-HP_0001417-GENCC_100003"	"HGNC:9173"	"POLA1"	"MONDO:0010523"	"X-linked reticulate pigmentary disorder"	"OMIM:301220"	"Pigmentary disorder, reticulate, with systemic manifestations, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9173"	"POLA1"	"OMIM:301220"	"Pigmentary disorder, reticulate, with systemic manifestations, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-06-10 00:00:00"	""	""	""	"PMID: 28106320"	"7066"	"2021-03-02"
"GENCC_000101-HGNC_9173-OMIM_301030-HP_0001417-GENCC_100003"	"HGNC:9173"	"POLA1"	"MONDO:0015601"	"X-linked intellectual disability, van Esch type"	"OMIM:301030"	"Van Esch-O'Driscoll syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9173"	"POLA1"	"OMIM:301030"	"Van Esch-ODriscoll syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-07-15 19:02:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7066"	"2021-09-28"
"GENCC_000101-HGNC_9175-OMIM_615381-HP_0000006-GENCC_100002"	"HGNC:9175"	"POLD1"	"MONDO:0014157"	"mandibular hypoplasia-deafness-progeroid syndrome"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9175"	"POLD1"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-22 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76234"	"2025-01-17"
"GENCC_000101-HGNC_9175-OMIM_612591-HP_0000006-GENCC_100003"	"HGNC:9175"	"POLD1"	"MONDO:0012953"	"colorectal cancer, susceptibility to, 10"	"OMIM:612591"	"{Colorectal cancer, susceptibility to, 10}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9175"	"POLD1"	"OMIM:612591"	"Colorectal cancer, susceptibility to, 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-21 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76231"	"2025-01-17"
"GENCC_000101-HGNC_9175-OMIM_615381-HP_0000007-GENCC_100004"	"HGNC:9175"	"POLD1"	"MONDO:0014157"	"mandibular hypoplasia-deafness-progeroid syndrome"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9175"	"POLD1"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-02-14 13:38:02"	""	""	""	"PMID: 28106320"	"7060"	"2021-03-02"
"GENCC_000101-HGNC_9177-OMIM_615083-HP_0000006-GENCC_100002"	"HGNC:9177"	"POLE"	"MONDO:0014038"	"colorectal cancer, susceptibility to, 12"	"OMIM:615083"	"{Colorectal cancer, susceptibility to, 12}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9177"	"POLE"	"OMIM:615083"	"Colorectal cancer, susceptibility to, 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-11-20 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65089"	"2025-01-17"
"GENCC_000101-HGNC_9177-OMIM_615139-HP_0000007-GENCC_100003"	"HGNC:9177"	"POLE"	"MONDO:0014058"	"facial dysmorphism-immunodeficiency-livedo-short stature syndrome"	"OMIM:615139"	"FILS syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9177"	"POLE"	"OMIM:615139"	"FILS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-12-21 13:38:03"	""	""	""	"PMID: 28106320"	"7061"	"2021-03-02"
"GENCC_000101-HGNC_9179-OMIM_203700-HP_0000007-GENCC_100001"	"HGNC:9179"	"POLG"	"MONDO:0008758"	"mitochondrial DNA depletion syndrome 4a"	"OMIM:203700"	"Mitochondrial DNA depletion syndrome 4A (Alpers type)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9179"	"POLG"	"OMIM:203700"	"Mitochondrial DNA depletion syndrome 4A (Alpers type)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-08-14 00:00:00"	""	""	""	"PMID: 28106320"	"7065"	"2021-03-02"
"GENCC_000101-HGNC_9179-OMIM_607459-HP_0000007-GENCC_100001"	"HGNC:9179"	"POLG"	"MONDO:0011835"	"sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"	"OMIM:607459"	"Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9179"	"POLG"	"OMIM:607459"	"Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-27 00:00:00"	""	""	""	"PMID: 28106320"	"7065"	"2021-03-02"
"GENCC_000101-HGNC_9179-OMIM_157640-HP_0000006-GENCC_100001"	"HGNC:9179"	"POLG"	"MONDO:0024528"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"	"OMIM:157640"	"Progressive external ophthalmoplegia, autosomal dominant 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9179"	"POLG"	"OMIM:157640"	"Progressive external ophthalmoplegia, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-27 00:00:00"	""	""	""	"PMID: 28106320"	"7065"	"2021-03-02"
"GENCC_000101-HGNC_9180-OMIM_618528-HP_0000007-GENCC_100004"	"HGNC:9180"	"POLG2"	"MONDO:0032799"	"mitochondrial DNA depletion syndrome 16 (hepatic type)"	"OMIM:618528"	"?Mitochondrial DNA depletion syndrome 16 (hepatic type)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9180"	"POLG2"	"OMIM:618528"	"Mitochondrial DNA depletion syndrome 16 (hepatic type)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-05 13:38:04"	""	""	""	"PMID: 28106320"	"88696"	"2021-03-02"
"GENCC_000101-HGNC_9180-OMIM_610131-HP_0000006-GENCC_100004"	"HGNC:9180"	"POLG2"	"MONDO:0012415"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"	"OMIM:610131"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9180"	"POLG2"	"OMIM:610131"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2017-09-22 00:00:00"	""	""	""	"PMID: 28106320"	"88696"	"2021-03-02"
"GENCC_000101-HGNC_9187-OMIM_618603-HP_0000006-GENCC_100003"	"HGNC:9187"	"POLR2A"	"MONDO:0032829"	"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"OMIM:618603"	"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9187"	"POLR2A"	"OMIM:618603"	"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-03-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14636"	"2023-08-19"
"GENCC_000101-HGNC_26267-OMIM_615249-HP_0000007-GENCC_100003"	"HGNC:26267"	"POMK"	"MONDO:0014101"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"	"OMIM:615249"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26267"	"POMK"	"OMIM:615249"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-25 13:38:05"	""	""	""	"PMID: 28106320"	"50834"	"2021-03-02"
"GENCC_000101-HGNC_20330-OMIM_601952-HP_0000007-GENCC_100003"	"HGNC:20330"	"POMP"	"MONDO:0011169"	"keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"	"OMIM:601952"	"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20330"	"POMP"	"OMIM:601952"	"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 13:38:05"	""	""	""	"PMID: 28106320"	"78948"	"2021-03-02"
"GENCC_000101-HGNC_20330-OMIM_618048-HP_0000006-GENCC_100003"	"HGNC:20330"	"POMP"	"MONDO:0054700"	"proteasome-associated autoinflammatory syndrome 2"	"OMIM:618048"	"Proteasome-associated autoinflammatory syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20330"	"POMP"	"OMIM:618048"	"Proteasome-associated autoinflammatory syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-07 13:38:06"	""	""	""	"PMID: 28106320"	"78948"	"2021-03-02"
"GENCC_000101-HGNC_9202-OMIM_236670-HP_0000007-GENCC_100001"	"HGNC:9202"	"POMT1"	"MONDO:0009364"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1"	"OMIM:236670"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9202"	"POMT1"	"OMIM:236670"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-09 13:38:06"	""	""	""	"PMID: 28106320"	"82757"	"2021-03-02"
"GENCC_000101-HGNC_19743-OMIM_613156-HP_0000007-GENCC_100003"	"HGNC:19743"	"POMT2"	"MONDO:0013160"	"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2"	"OMIM:613156"	"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19743"	"POMT2"	"OMIM:613156"	"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:38:06"	""	""	""	"PMID: 28106320"	"63370"	"2021-03-02"
"GENCC_000101-HGNC_17652-OMIM_305600-HP_0001417-GENCC_100001"	"HGNC:17652"	"PORCN"	"MONDO:0010592"	"focal dermal hypoplasia"	"OMIM:305600"	"Focal dermal hypoplasia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17652"	"PORCN"	"OMIM:305600"	"Focal dermal hypoplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:38:07"	""	""	""	"PMID: 28106320"	"10502"	"2021-03-02"
"GENCC_000101-HGNC_21694-OMIM_601583-HP_0000005-GENCC_100004"	"HGNC:21694"	"POU6F2"	"MONDO:0011112"	"Wilms tumor 5"	"OMIM:601583"	"{Wilms tumor susceptibility-5}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21694"	"POU6F2"	"OMIM:601583"	"Wilms tumor susceptibility-5"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-19 13:38:07"	""	""	""	"PMID: 28106320"	"88658"	"2021-03-02"
"GENCC_000101-HGNC_9277-OMIM_114480-HP_0000006-GENCC_100005"	"HGNC:9277"	"PPM1D"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9277"	"PPM1D"	"OMIM:114480"	"Breast cancer, somatic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2018-08-30 13:38:07"	""	""	""	"PMID: 28106320"	"5039"	"2021-03-02"
"GENCC_000101-HGNC_9277-OMIM_617450-HP_0000006-GENCC_100003"	"HGNC:9277"	"PPM1D"	"MONDO:0044318"	"intellectual developmental disorder with gastrointestinal difficulties and high pain threshold"	"OMIM:617450"	"Jansen-de Vries syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9277"	"PPM1D"	"OMIM:617450"	"Jansen de Vries syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-02-20 00:00:00"	""	""	""	"PMID: 28106320"	"5039"	"2021-03-02"
"GENCC_000101-HGNC_7618-OMIM_618820-HP_0000006-GENCC_100002"	"HGNC:7618"	"PPP1R12A"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"OMIM:618820"	"Genitourinary and/or/brain malformation syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7618"	"PPP1R12A"	"OMIM:618820"	"Genitourinary and/or/brain malformation syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-02-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11340"	"2023-08-19"
"GENCC_000101-HGNC_9291-OMIM_125853-HP_0000005-GENCC_100004"	"HGNC:9291"	"PPP1R3A"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9291"	"PPP1R3A"	"OMIM:125853"	"Insulin resistance, severe, digenic"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-04 13:38:08"	""	""	""	"PMID: 28106320"	"7721"	"2021-03-02"
"GENCC_000101-HGNC_32528-OMIM_610599-HP_0000007-GENCC_100003"	"HGNC:32528"	"PRCD"	"MONDO:0012523"	"retinitis pigmentosa 36"	"OMIM:610599"	"Retinitis pigmentosa 36"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32528"	"PRCD"	"OMIM:610599"	"Retinitis pigmentosa 36"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:38:09"	""	""	""	"PMID: 28106320"	"415621"	"2021-03-02"
"GENCC_000101-HGNC_9388-OMIM_610489-HP_0000006-GENCC_100003"	"HGNC:9388"	"PRKAR1A"	"MONDO:0012509"	"pigmented nodular adrenocortical disease, primary, 1"	"OMIM:610489"	"Pigmented nodular adrenocortical disease, primary, 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9388"	"PRKAR1A"	"OMIM:610489"	"Pigmented nodular adrenocortical disease, primary, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 13:38:09"	""	""	""	"PMID: 28106320"	"7749"	"2021-03-02"
"GENCC_000101-HGNC_9388-OMIM_160980-HP_0000006-GENCC_100001"	"HGNC:9388"	"PRKAR1A"	"MONDO:0008057"	"Carney complex, type 1"	"OMIM:160980"	"Carney complex, type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9388"	"PRKAR1A"	"OMIM:160980"	"Carney complex, type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-04 13:38:09"	""	""	""	"PMID: 28106320"	"7749"	"2021-03-02"
"GENCC_000101-HGNC_9388-OMIM_101800-HP_0000006-GENCC_100002"	"HGNC:9388"	"PRKAR1A"	"MONDO:0007044"	"Acrodysostosis 1 with or without hormone resistance"	"OMIM:101800"	"Acrodysostosis 1, with or without hormone resistance"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9388"	"PRKAR1A"	"OMIM:101800"	"Acrodysostosis 1, with or without hormone resistance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-04 13:38:09"	""	""	""	"PMID: 28106320"	"7749"	"2021-03-02"
"GENCC_000101-HGNC_9402-OMIM_605361-HP_0000006-GENCC_100001"	"HGNC:9402"	"PRKCG"	"MONDO:0011540"	"spinocerebellar ataxia type 14"	"OMIM:605361"	"Spinocerebellar ataxia 14"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9402"	"PRKCG"	"OMIM:605361"	"Spinocerebellar ataxia 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:38:10"	""	""	""	"PMID: 28106320"	"7756"	"2021-03-02"
"GENCC_000101-HGNC_9411-OMIM_174050-HP_0000006-GENCC_100001"	"HGNC:9411"	"PRKCSH"	"MONDO:0008265"	"polycystic liver disease 1"	"OMIM:174050"	"Polycystic liver disease 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9411"	"PRKCSH"	"OMIM:174050"	"Polycystic liver disease 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-08-07 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65915"	"2024-01-02"
"GENCC_000101-HGNC_9407-OMIM_617364-HP_0000006-GENCC_100003"	"HGNC:9407"	"PRKD1"	"MONDO:0044303"	"congenital heart defects and ectodermal dysplasia"	"OMIM:617364"	"Congenital heart defects and ectodermal dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9407"	"PRKD1"	"OMIM:617364"	"Congenital heart defects and ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-23 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18987"	"2025-01-17"
"GENCC_000101-HGNC_9413-OMIM_615966-HP_0000007-GENCC_100004"	"HGNC:9413"	"PRKDC"	"MONDO:0014423"	"severe combined immunodeficiency due to DNA-PKcs deficiency"	"OMIM:615966"	"Immunodeficiency 26, with or without neurologic abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9413"	"PRKDC"	"OMIM:615966"	"Immunodeficiency 26, with or without neurologic abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-09-13 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74117"	"2024-01-02"
"GENCC_000101-HGNC_9414-OMIM_615436-HP_0000006-GENCC_100003"	"HGNC:9414"	"PRKG1"	"MONDO:0014187"	"aortic aneurysm, familial thoracic 8"	"OMIM:615436"	"Aortic aneurysm, familial thoracic 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9414"	"PRKG1"	"OMIM:615436"	"Aortic aneurysm, familial thoracic 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-30 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78449"	"2025-01-17"
"GENCC_000101-HGNC_25099-OMIM_618089-HP_0000007-GENCC_100004"	"HGNC:25099"	"PRMT9"	"MONDO:0060760"	"intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"OMIM:618089"	"Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25099"	"PRMT9"	"OMIM:618089"	"Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:38:11"	""	""	""	"PMID: 28106320"	"32561"	"2021-03-02"
"GENCC_000101-HGNC_9449-OMIM_137440-HP_0000006-GENCC_100001"	"HGNC:9449"	"PRNP"	"MONDO:0007656"	"Gerstmann-Straussler-Scheinker syndrome"	"OMIM:137440"	"Cerebral amyloid angiopathy, PRNP-related"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9449"	"PRNP"	"OMIM:137440"	"Cerebral amyloid angiopathy, PRNP-related"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-22 13:38:12"	""	""	""	"PMID: 28106320"	"7168"	"2021-03-02"
"GENCC_000101-HGNC_15836-OMIM_244200-HP_0000006-GENCC_100001"	"HGNC:15836"	"PROKR2"	"MONDO:0009482"	"hypogonadotropic hypogonadism 3 with or without anosmia"	"OMIM:244200"	"Hypogonadotropic hypogonadism 3 with or without anosmia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15836"	"PROKR2"	"OMIM:244200"	"Hypogonadotropic hypogonadism 3 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-11-17 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67504"	"2025-01-17"
"GENCC_000101-HGNC_15446-OMIM_600138-HP_0000006-GENCC_100001"	"HGNC:15446"	"PRPF31"	"MONDO:0010828"	"retinitis pigmentosa 11"	"OMIM:600138"	"Retinitis pigmentosa 11"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15446"	"PRPF31"	"OMIM:600138"	"Retinitis pigmentosa 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-14 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61456"	"2025-01-17"
"GENCC_000101-HGNC_15860-OMIM_613983-HP_0000006-GENCC_100004"	"HGNC:15860"	"PRPF6"	"MONDO:0013516"	"retinitis pigmentosa 60"	"OMIM:613983"	"Retinitis pigmentosa 60"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15860"	"PRPF6"	"OMIM:613983"	"Retinitis pigmentosa 60"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-19 13:38:13"	""	""	""	"PMID: 28106320"	"60805"	"2021-03-02"
"GENCC_000101-HGNC_13420-OMIM_617481-HP_0000007-GENCC_100002"	"HGNC:13420"	"PRUNE1"	"MONDO:0060490"	"neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"	"OMIM:617481"	"Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13420"	"PRUNE1"	"OMIM:617481"	"Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-07-02 13:38:13"	""	""	""	"PMID: 28106320"	"75034"	"2021-03-02"
"GENCC_000101-HGNC_13797-OMIM_614895-HP_0000007-GENCC_100002"	"HGNC:13797"	"PRX"	"MONDO:0013959"	"Charcot-Marie-Tooth disease type 4F"	"OMIM:614895"	"Charcot-Marie-Tooth disease, type 4F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13797"	"PRX"	"OMIM:614895"	"Charcot-Marie-Tooth disease, type 4F"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-11-15 13:38:14"	""	""	""	"PMID: 28106320"	"74481"	"2021-03-02"
"GENCC_000101-HGNC_13797-OMIM_145900-HP_0000007-GENCC_100003"	"HGNC:13797"	"PRX"	"MONDO:0007790"	"Charcot-Marie-Tooth disease type 3"	"OMIM:145900"	"Dejerine-Sottas disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13797"	"PRX"	"OMIM:145900"	"Dejerine-Sottas disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-15 13:38:14"	""	""	""	"PMID: 28106320"	"74481"	"2021-03-02"
"GENCC_000101-HGNC_9498-OMIM_610539-HP_0000007-GENCC_100003"	"HGNC:9498"	"PSAP"	"MONDO:0012517"	"Gaucher disease due to saposin C deficiency"	"OMIM:610539"	"Gaucher disease, atypical"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9498"	"PSAP"	"OMIM:610539"	"Gaucher disease, atypical"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:38:14"	""	""	""	"PMID: 28106320"	"7112"	"2021-03-02"
"GENCC_000101-HGNC_9498-OMIM_249900-HP_0000007-GENCC_100003"	"HGNC:9498"	"PSAP"	"MONDO:0009590"	"metachromatic leukodystrophy due to saposin B deficiency"	"OMIM:249900"	"Metachromatic leukodystrophy due to SAP-b deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9498"	"PSAP"	"OMIM:249900"	"Metachromatic leukodystrophy due to SAP-b deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:38:14"	""	""	""	"PMID: 28106320"	"7112"	"2021-03-02"
"GENCC_000101-HGNC_19129-OMIM_616038-HP_0000007-GENCC_100003"	"HGNC:19129"	"PSAT1"	"MONDO:0014466"	"Neu-Laxova syndrome 2"	"OMIM:616038"	"Neu-Laxova syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19129"	"PSAT1"	"OMIM:616038"	"Neu-Laxova syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:38:15"	""	""	""	"PMID: 28106320"	"63315"	"2021-03-02"
"GENCC_000101-HGNC_9508-OMIM_607822-HP_0000006-GENCC_100002"	"HGNC:9508"	"PSEN1"	"MONDO:0011913"	"Alzheimer disease 3"	"OMIM:607822"	"{?Alzheimer disease, protection against, due to APOE3-Christchurch}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9508"	"PSEN1"	"OMIM:607822"	"Alzheimer disease, type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2015-09-17 00:00:00"	""	""	""	"PMID: 28106320"	"7119"	"2021-03-02"
"GENCC_000101-HGNC_9577-OMIM_614023-HP_0000007-GENCC_100003"	"HGNC:9577"	"PSPH"	"MONDO:0013531"	"PSPH deficiency"	"OMIM:614023"	"Phosphoserine phosphatase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9577"	"PSPH"	"OMIM:614023"	"Phosphoserine phosphatase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-23 13:38:15"	""	""	""	"PMID: 28106320"	"7469"	"2021-03-02"
"GENCC_000101-HGNC_9588-OMIM_158350-HP_0000006-GENCC_100001"	"HGNC:9588"	"PTEN"	"MONDO:0008021"	"Cowden syndrome 1"	"OMIM:158350"	"Lhermitte-Duclos disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9588"	"PTEN"	"OMIM:158350"	"Cowden syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-07-31 00:00:00"	""	""	""	"PMID: 28106320"	"7465"	"2021-03-02"
"GENCC_000101-HGNC_9588-OMIM_605309-HP_0000006-GENCC_100002"	"HGNC:9588"	"PTEN"	"MONDO:0011537"	"macrocephaly-autism syndrome"	"OMIM:605309"	"Macrocephaly/autism syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9588"	"PTEN"	"OMIM:605309"	"Macrocephaly/autism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"3016-03-31 00:00:00"	""	""	""	"PMID: 28106320"	"7465"	"2021-03-02"
"GENCC_000101-HGNC_9588-OMIM_158350-HP_0000006-GENCC_100003"	"HGNC:9588"	"PTEN"	"MONDO:0008021"	"Cowden syndrome 1"	"OMIM:158350"	"Lhermitte-Duclos disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9588"	"PTEN"	"OMIM:158350"	"Lhermitte-Duclos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 13:38:15"	""	""	""	"PMID: 28106320"	"7465"	"2021-03-02"
"GENCC_000101-HGNC_9588-OMIM_613028-HP_0000006-GENCC_100004"	"HGNC:9588"	"PTEN"	"MONDO:0013092"	"glioma susceptibility 2"	"OMIM:613028"	"{Glioma susceptibility 2}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9588"	"PTEN"	"OMIM:613028"	"Glioma susceptibility 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 13:38:16"	""	""	""	"PMID: 28106320"	"7465"	"2021-03-02"
"GENCC_000101-HGNC_23734-OMIM_609069-HP_0000007-GENCC_100003"	"HGNC:23734"	"PTF1A"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"OMIM:609069"	"Pancreatic and cerebellar agenesis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23734"	"PTF1A"	"OMIM:609069"	"Pancreatic and cerebellar agenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-05 13:38:16"	""	""	""	"PMID: 28106320"	"671634"	"2021-03-02"
"GENCC_000101-HGNC_9644-OMIM_156250-HP_0000006-GENCC_100002"	"HGNC:9644"	"PTPN11"	"MONDO:0007979"	"metachondromatosis"	"OMIM:156250"	"Metachondromatosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9644"	"PTPN11"	"OMIM:156250"	"Metachondromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-03-16 00:00:00"	""	""	""	"PMID: 28106320"	"7458"	"2021-03-02"
"GENCC_000101-HGNC_9644-OMIM_163950-HP_0000006-GENCC_100001"	"HGNC:9644"	"PTPN11"	"MONDO:0008104"	"Noonan syndrome 1"	"OMIM:163950"	"Noonan syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9644"	"PTPN11"	"OMIM:163950"	"Noonan syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-01-11 00:00:00"	""	""	""	"PMID: 28106320"	"7458"	"2021-03-02"
"GENCC_000101-HGNC_9678-OMIM_614196-HP_0000007-GENCC_100004"	"HGNC:9678"	"PTPRO"	"MONDO:0013619"	"nephrotic syndrome, type 6"	"OMIM:614196"	"Nephrotic syndrome, type 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9678"	"PTPRO"	"OMIM:614196"	"Nephrotic syndrome, type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65658"	"2023-08-19"
"GENCC_000101-HGNC_9679-OMIM_613391-HP_0032113-GENCC_100003"	"HGNC:9679"	"PTPRQ"	"MONDO:0013249"	"autosomal recessive nonsyndromic hearing loss 84A"	"OMIM:613391"	"Deafness, autosomal recessive 84A"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9679"	"PTPRQ"	"OMIM:613391"	"Deafness, autosomal recessive 84A"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 13:38:17"	""	""	""	"PMID: 28106320"	"940016"	"2021-03-02"
"GENCC_000101-HGNC_15508-OMIM_600462-HP_0000007-GENCC_100003"	"HGNC:15508"	"PUS1"	"MONDO:0024553"	"myopathy, lactic acidosis, and sideroblastic anemia 1"	"OMIM:600462"	"Myopathy, lactic acidosis, and sideroblastic anemia 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15508"	"PUS1"	"OMIM:600462"	"Myopathy, lactic acidosis, and sideroblastic anemia 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-30 13:38:17"	""	""	""	"PMID: 28106320"	"52960"	"2021-03-02"
"GENCC_000101-HGNC_25461-OMIM_617051-HP_0000007-GENCC_100003"	"HGNC:25461"	"PUS3"	"MONDO:0014886"	"severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"	"OMIM:617051"	"Neurodevelopmental disorder with microcephaly and gray sclerae"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25461"	"PUS3"	"OMIM:617051"	"Mental retardation, autosomal recessive 55"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-24 13:38:18"	""	""	""	"PMID: 28106320"	"59052"	"2021-03-02"
"GENCC_000101-HGNC_26033-OMIM_618342-HP_0000007-GENCC_100003"	"HGNC:26033"	"PUS7"	"MONDO:0032687"	"intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"	"OMIM:618342"	"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26033"	"PUS7"	"OMIM:618342"	"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-03-29 13:38:18"	""	""	""	"PMID: 28106320"	"70784"	"2021-03-02"
"GENCC_000101-HGNC_9721-OMIM_614438-HP_0000007-GENCC_100001"	"HGNC:9721"	"PYCR1"	"MONDO:0013755"	"PYCR1-related de Barsy syndrome"	"OMIM:614438"	"Cutis laxa, autosomal recessive, type IIIB"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9721"	"PYCR1"	"OMIM:614438"	"Cutis laxa, autosomal recessive, type IIIB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 13:38:18"	""	""	""	"PMID: 28106320"	"7598"	"2021-03-02"
"GENCC_000101-HGNC_9726-OMIM_232600-HP_0000006-GENCC_100004"	"HGNC:9726"	"PYGM"	"MONDO:0009293"	"glycogen storage disease V"	"OMIM:232600"	"McArdle disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9726"	"PYGM"	"OMIM:232600"	"McArdle disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-19 13:38:18"	""	""	""	"PMID: 28106320"	"7594"	"2021-03-02"
"GENCC_000101-HGNC_26162-OMIM_617258-HP_0000007-GENCC_100003"	"HGNC:26162"	"PYROXD1"	"MONDO:0014993"	"myofibrillar myopathy 8"	"OMIM:617258"	"Myopathy, myofibrillar, 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26162"	"PYROXD1"	"OMIM:617258"	"Myopathy, myofibrillar, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-07 13:38:18"	""	""	""	"PMID: 28106320"	"43386"	"2021-03-02"
"GENCC_000101-HGNC_21020-OMIM_618835-HP_0000007-GENCC_100004"	"HGNC:21020"	"QRSL1"	"MONDO:0030006"	"combined oxidative phosphorylation deficiency 40"	"OMIM:618835"	"Combined oxidative phosphorylation deficiency 40"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21020"	"QRSL1"	"OMIM:618835"	"Combined oxidative phosphorylation deficiency 40"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-22 13:38:19"	""	""	""	"PMID: 28106320"	"77645"	"2021-03-02"
"GENCC_000106-HGNC_18294-OMIM_608540-HP_0000007-GENCC_100002"	"HGNC:18294"	"ALG1"	"MONDO:0012052"	"ALG1-congenital disorder of glycosylation"	"OMIM:608540"	"Congenital disorder of glycosylation, type Ik"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18294"	"ALG1"	"OMIM:608540"	"ALG1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 15:59:19"	""	""	"14709599, 14973778, 14973782, 20679665, 22966035, 23806237, 9762608"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG10ALG1CDG"	"2023-11-30"
"GENCC_000106-HGNC_32456-OMIM_613661-HP_0000007-GENCC_100002"	"HGNC:32456"	"ALG11"	"MONDO:0013349"	"ALG11-congenital disorder of glycosylation"	"OMIM:613661"	"Congenital disorder of glycosylation, type Ip"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32456"	"ALG11"	"OMIM:613661"	"ALG11-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-10 19:19:16"	""	""	"20080937, 22213132, 30676690"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG110ALG11CDG"	"2023-11-30"
"GENCC_000106-HGNC_23056-OMIM_601110-HP_0000007-GENCC_100002"	"HGNC:23056"	"ALG3"	"MONDO:0010998"	"ALG3-congenital disorder of glycosylation"	"OMIM:601110"	"Congenital disorder of glycosylation, type Id"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23056"	"ALG3"	"OMIM:601110"	"ALG3-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-19 13:58:13"	""	""	"10581255, 15108280, 15840742, 16006436, 16053906, 17551933, 18679822, 19862844, 26126960, 33583022, 34090370"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG30ALG3CDG"	"2023-11-30"
"GENCC_000106-HGNC_986-OMIM_248600-HP_0000007-GENCC_100002"	"HGNC:986"	"BCKDHA"	"MONDO:0009563"	"maple syrup urine disease"	"OMIM:248600"	"Maple syrup urine disease, type Ia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:986"	"BCKDHA"	"OMIM:248600"	"maple syrup urine disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 07:35:47"	""	""	"16786533, 22593002, 248600"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCKDHA0MapleSyrup02"	"2023-11-30"
"GENCC_000106-HGNC_987-OMIM_248600-HP_0000007-GENCC_100002"	"HGNC:987"	"BCKDHB"	"MONDO:0009563"	"maple syrup urine disease"	"OMIM:248600"	"Maple syrup urine disease, type Ia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:987"	"BCKDHB"	"OMIM:248600"	"maple syrup urine disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 14:25:18"	""	""	"16786533, 22593002"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCKDHB0MapleSyrup02"	"2023-11-30"
"GENCC_000106-HGNC_28178-OMIM_616828-HP_0000007-GENCC_100002"	"HGNC:28178"	"VMA22"	"MONDO:0014789"	"CCDC115-CDG"	"OMIM:616828"	"Congenital disorder of glycosylation, type IIo"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28178"	"CCDC115"	"OMIM:616828"	"CCDC115-CDG"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"26833332, 29759592"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC1150CCDC115CDG"	"2023-11-30"
"GENCC_000106-HGNC_6938-OMIM_217800-HP_0000007-GENCC_100002"	"HGNC:6938"	"CHST6"	"MONDO:0009020"	"macular corneal dystrophy"	"OMIM:217800"	"Macular corneal dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6938"	"CHST6"	"OMIM:217800"	"macular corneal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 18:37:08"	""	""	"14609920, 14735064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHST60MacularCornDys"	"2023-11-30"
"GENCC_000106-HGNC_6545-OMIM_611209-HP_0000007-GENCC_100002"	"HGNC:6545"	"COG1"	"MONDO:0012637"	"COG1-congenital disorder of glycosylation"	"OMIM:611209"	"Congenital disorder of glycosylation, type IIg"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6545"	"COG1"	"OMIM:611209"	"COG1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-10 08:19:35"	""	""	"16537452, 19008299"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COG10COG1CDG"	"2023-11-30"
"GENCC_000106-HGNC_18622-OMIM_608779-HP_0000007-GENCC_100002"	"HGNC:18622"	"COG7"	"MONDO:0012118"	"COG7-congenital disorder of glycosylation"	"OMIM:608779"	"Congenital disorder of glycosylation, type IIe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18622"	"COG7"	"OMIM:608779"	"COG7-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"15107842, 17356545, 19577670, 21811164, 30653653"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COG70COG7CDG"	"2023-11-30"
"GENCC_000106-HGNC_18623-OMIM_611182-HP_0000007-GENCC_100002"	"HGNC:18623"	"COG8"	"MONDO:0012635"	"COG8-congenital disorder of glycosylation"	"OMIM:611182"	"Congenital disorder of glycosylation, type IIh"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18623"	"COG8"	"OMIM:611182"	"COG8-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-18 08:52:57"	""	""	"17220172, 17331980, 173319800, 23806237"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COG80COG8CDG"	"2023-11-30"
"GENCC_000106-HGNC_2195-OMIM_267750-HP_0000007-GENCC_100002"	"HGNC:2195"	"COL18A1"	"MONDO:0800167"	"Knobloch syndrome 1"	"OMIM:267750"	"Knobloch syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2195"	"COL18A1"	"OMIM:267750"	"Knobloch syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 02:02:16"	""	""	"10942434, 12415512, 12766032, 14695535, 21862674, 24135756, 25456301"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL18A10Knobloch"	"2023-11-30"
"GENCC_000106-HGNC_2698-OMIM_248600-HP_0000007-GENCC_100002"	"HGNC:2698"	"DBT"	"MONDO:0009563"	"maple syrup urine disease"	"OMIM:248600"	"Maple syrup urine disease, type Ia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2698"	"DBT"	"OMIM:248600"	"maple syrup urine disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 09:06:06"	""	""	"16579849, 16786533, 248600"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DBT0MapleSyrup02"	"2023-11-30"
"GENCC_000106-HGNC_3013-OMIM_222748-HP_0000007-GENCC_100002"	"HGNC:3013"	"DPYS"	"MONDO:0009111"	"dihydropyrimidinuria"	"OMIM:222748"	"Dihydropyrimidinuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3013"	"DPYS"	"OMIM:222748"	"dihydropyrimidinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:04"	""	""	"1.53842E+15, 20362666, 27604308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPYS0Dihydrop"	"2023-11-30"
"GENCC_000106-HGNC_3255-OMIM_226980-HP_0000007-GENCC_100002"	"HGNC:3255"	"EIF2AK3"	"MONDO:0009192"	"Wolcott-Rallison syndrome"	"OMIM:226980"	"Wolcott-Rallison syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3255"	"EIF2AK3"	"OMIM:226980"	"Wolcott-Rallison syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 08:48:59"	""	""	"10932183, 11997520, 15220213, 16813601, 19837917, 20202148, 21050479, 21518408"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2AK30WRS"	"2023-11-30"
"GENCC_000106-HGNC_23287-OMIM_602473-HP_0000007-GENCC_100002"	"HGNC:23287"	"ETHE1"	"MONDO:0011229"	"ethylmalonic encephalopathy"	"OMIM:602473"	"Ethylmalonic encephalopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23287"	"ETHE1"	"OMIM:602473"	"ethylmalonic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 17:03:12"	""	""	"14732903, 19136963"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ETHE10ETHE1Def02"	"2023-11-30"
"GENCC_000106-HGNC_4982-OMIM_176000-HP_0000006-GENCC_100002"	"HGNC:4982"	"HMBS"	"MONDO:0008294"	"acute intermittent porphyria"	"OMIM:176000"	"Porphyria, acute intermittent"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4982"	"HMBS"	"OMIM:176000"	"acute intermittent porphyria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:12"	""	""	"10453740, 19460837, 23114748, 7757070, 7962538, 9199558, 9860299"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMBS0Porphyria"	"2023-11-30"
"GENCC_000106-HGNC_24862-OMIM_606056-HP_0000007-GENCC_100002"	"HGNC:24862"	"MOGS"	"MONDO:0011629"	"MOGS-congenital disorder of glycosylation"	"OMIM:606056"	"Congenital disorder of glycosylation, type IIb"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24862"	"MOGS"	"OMIM:606056"	"MOGS-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 19:39:15"	""	""	"10788335, 24716661, 26805780, 29235540, 74690429"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MOGS0MOGSCDG"	"2023-11-30"
"GENCC_000106-HGNC_7207-OMIM_609180-HP_0000007-GENCC_100002"	"HGNC:7207"	"MPDU1"	"MONDO:0012211"	"MPDU1-congenital disorder of glycosylation"	"OMIM:609180"	"Congenital disorder of glycosylation, type If"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7207"	"MPDU1"	"OMIM:609180"	"MPDU1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-05 22:43:37"	""	""	"11733556, 11733564"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPDU10MPDU1CDG"	"2023-11-30"
"GENCC_000106-HGNC_7216-OMIM_602579-HP_0000007-GENCC_100002"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"OMIM:602579"	"Congenital disorder of glycosylation, type Ib"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7216"	"MPI"	"OMIM:602579"	"MPI-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:05"	""	""	"19862844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPI0MPICDG"	"2023-11-30"
"GENCC_000106-HGNC_7978-OMIM_615962-HP_0000006-GENCC_100002"	"HGNC:7978"	"NR3C1"	"MONDO:0014421"	"glucocorticoid resistance"	"OMIM:615962"	"Glucocorticoid resistance"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7978"	"NR3C1"	"OMIM:615962"	"glucocorticoid resistance"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:43:11"	""	""	"18697839, 21042587, 23426617"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR3C10Glucocor"	"2023-11-30"
"GENCC_000106-HGNC_8966-OMIM_280000-HP_0000007-GENCC_100002"	"HGNC:8966"	"PIGL"	"MONDO:0010221"	"CHIME syndrome"	"OMIM:280000"	"CHIME syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8966"	"PIGL"	"OMIM:280000"	"CHIME syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 06:16:12"	""	""	"22444671, 25706356"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGL0CHIME"	"2023-11-30"
"GENCC_000106-HGNC_7892-OMIM_613179-HP_0000007-GENCC_100002"	"HGNC:7892"	"PNP"	"MONDO:0013171"	"purine nucleoside phosphorylase deficiency"	"OMIM:613179"	"Immunodeficiency due to purine nucleoside phosphorylase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7892"	"PNP"	"OMIM:613179"	"purine nucleoside phosphorylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"22132981, 24767876, 9122228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNP0PurinePhos"	"2023-11-30"
"GENCC_000106-HGNC_9940-OMIM_136880-HP_0000007-GENCC_100002"	"HGNC:9940"	"RDH5"	"MONDO:0007639"	"fundus albipunctatus"	"OMIM:136880"	"Fundus albipunctatus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9940"	"RDH5"	"OMIM:136880"	"fundus albipunctatus"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 13:46:29"	""	""	"10369264, 11448328, 11470705, 11675386, 21529959, 22815624, 25820994, 6975055"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RDH50FundusAlbipunct"	"2023-11-30"
"GENCC_000106-HGNC_30220-OMIM_612015-HP_0000007-GENCC_100002"	"HGNC:30220"	"RFT1"	"MONDO:0012783"	"RFT1-congenital disorder of glycosylation"	"OMIM:612015"	"Congenital disorder of glycosylation, type In"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30220"	"RFT1"	"OMIM:612015"	"RFT1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"18313027, 19701946, 19856127, 23111317, 28600779, 31130284"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RFT10RFT1CDG"	"2023-11-30"
"GENCC_000106-HGNC_9987-OMIM_209920-HP_0000007-GENCC_100002"	"HGNC:9987"	"RFXANK"	"MONDO:0008855"	"MHC class II deficiency"	"OMIM:209920"	"MHC class II deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9987"	"RFXANK"	"OMIM:209920"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-22 12:19:14"	""	""	"10803838, 14574520, 16166641, 21908431, 22863278, 25001848"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RFXANK0MGH2"	"2023-11-30"
"GENCC_000106-HGNC_10004-OMIM_608415-HP_0000007-GENCC_100002"	"HGNC:10004"	"RGS9"	"MONDO:0012033"	"bradyopsia"	"OMIM:608415"	"Prolonged electroretinal response suppression 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10004"	"RGS9"	"OMIM:608415"	"bradyopsia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"11262419, 1470208, 14702087, 1790747, 19818506"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RGS90Bradyopsia"	"2023-11-30"
"GENCC_000106-HGNC_11021-OMIM_603585-HP_0000007-GENCC_100002"	"HGNC:11021"	"SLC35A1"	"MONDO:0011342"	"SLC35A1-congenital disorder of glycosylation"	"OMIM:603585"	"Congenital disorder of glycosylation, type IIf"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11021"	"SLC35A1"	"OMIM:603585"	"SLC35A1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"15576474, 23873973, 25552652, 28856833, 30115659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC35A10SLC35A1CDG"	"2023-11-30"
"GENCC_000106-HGNC_20862-OMIM_616721-HP_0000007-GENCC_100002"	"HGNC:20862"	"SLC39A8"	"MONDO:0014746"	"SLC39A8-CDG"	"OMIM:616721"	"Congenital disorder of glycosylation, type IIn"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20862"	"SLC39A8"	"OMIM:616721"	"SLC39A8-CDG"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-04 11:38:02"	""	""	"1914797, 22563477, 26637978, 26637979, 27995398"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC39A80SLC39A8CDG"	"2023-11-30"
"GENCC_000106-HGNC_11042-OMIM_616421-HP_0000006-GENCC_100002"	"HGNC:11042"	"SLC6A1"	"MONDO:0014633"	"epilepsy with myoclonic atonic seizures"	"OMIM:616421"	"Myoclonic-atonic epilepsy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11042"	"SLC6A1"	"OMIM:616421"	"myoclonic-atonic epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 18:42:19"	""	""	"12815026, 19966779, 25865495, 29315614"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC6A10EpilepsyMyo"	"2023-11-30"
"GENCC_000106-HGNC_6172-OMIM_615596-HP_0000007-GENCC_100002"	"HGNC:6172"	"STT3A"	"MONDO:0014270"	"STT3A-congenital disorder of glycosylation"	"OMIM:615596"	"Congenital disorder of glycosylation, type Iw, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6172"	"STT3A"	"OMIM:615596"	"STT3A-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23842455, 28424003, 30701557"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STT3A0STT3ACDG"	"2023-11-30"
"GENCC_000106-HGNC_18021-OMIM_226400-HP_0000007-GENCC_100002"	"HGNC:18021"	"TMC6"	"MONDO:0100045"	"epidermodysplasia verruciformis, susceptibility to, 1"	"OMIM:226400"	"{Epidermodysplasia verruciformis, susceptibility to, 1}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18021"	"TMC6"	"OMIM:226400"	"epidermodysplasia verruciformis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-14 15:40:50"	""	""	"12426567, 12938792, 15042430, 17139267, 24643182"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMC60EpidermDysVerr"	"2023-11-30"
"GENCC_000106-HGNC_30760-OMIM_614727-HP_0000007-GENCC_100002"	"HGNC:30760"	"TMEM165"	"MONDO:0013870"	"TMEM165-congenital disorder of glycosylation"	"OMIM:614727"	"Congenital disorder of glycosylation, type IIk"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30760"	"TMEM165"	"OMIM:614727"	"TMEM165-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"22683087, 26238249, 33413482"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1650TMEM165CDG"	"2023-11-30"
"GENCC_000106-HGNC_13666-OMIM_231550-HP_0000007-GENCC_100002"	"HGNC:13666"	"AAAS"	"MONDO:0009279"	"triple-A syndrome"	"OMIM:231550"	"Achalasia-addisonianism-alacrimia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13666"	"AAAS"	"OMIM:231550"	"triple-A syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 11:40:30"	""	""	"11159947, 12752575, 18628786, 20051279, 21656342, 26300845, 29180348"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AAAS0Achalasi"	"2023-11-30"
"GENCC_000106-HGNC_48-OMIM_301310-HP_0001419-GENCC_100002"	"HGNC:48"	"ABCB7"	"MONDO:0010524"	"X-linked sideroblastic anemia with ataxia"	"OMIM:301310"	"Anemia, sideroblastic, with ataxia"	"GENCC:100002"	"Strong"	"HP:0001419"	"X-linked recessive"	"GENCC:000106"	"Invitae"	"HGNC:48"	"ABCB7"	"OMIM:301310"	"anemia, sideroblastic, and spinocerebellar ataxia"	"HP:0001419"	"X-linked"	"GENCC:000106"	"INVITAE"	"GENCC:100002"	"STRONG"	"2021-04-23 00:00:00"	""	""	"10196363, 16467350"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/35"	"ABCB70Sideroblastic"	"2021-05-25"
"GENCC_000106-HGNC_68-OMIM_614857-HP_0000007-GENCC_100002"	"HGNC:68"	"ABCD4"	"MONDO:0013925"	"methylmalonic acidemia with homocystinuria, type cblJ"	"OMIM:614857"	"Methylmalonic aciduria and homocystinuria, cblJ type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:68"	"ABCD4"	"OMIM:614857"	"methylmalonic acidemia with homocystinuria, type cblJ"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:21:38"	""	""	"22922874, 23141461, 25234635, 28572511"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCD40MAH"	"2023-11-30"
"GENCC_000106-HGNC_76-OMIM_617602-HP_0000006-GENCC_100002"	"HGNC:76"	"ABL1"	"MONDO:0060532"	"congenital heart defects and skeletal malformations syndrome"	"OMIM:617602"	"Congenital heart defects and skeletal malformations syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:76"	"ABL1"	"OMIM:617602"	"congenital heart defects and skeletal malformations syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-23 22:53:39"	""	""	"10700189, 20080568, 251368, 25363768, 28191890, 28288113, 29146883, 30855488, 31102422, 32158229, 32643838, 33075386, 33223528, 33783941, 36949638"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABL10ABL1rel"	"2023-11-30"
"GENCC_000106-HGNC_174-OMIM_613751-HP_0000006-GENCC_100002"	"HGNC:174"	"ACVR2B"	"MONDO:0013403"	"heterotaxy, visceral, 4, autosomal"	"OMIM:613751"	"Heterotaxy, visceral, 4, autosomal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:174"	"ACVR2B"	"OMIM:613751"	"heterotaxy, visceral, 4, autosomal"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:05"	""	""	"21864452, 30029678, 30120289, 30622330, 9916847"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACVR2B0Heterotaxy"	"2023-11-30"
"GENCC_000106-HGNC_216-OMIM_612775-HP_0000007-GENCC_100002"	"HGNC:216"	"ADAM9"	"MONDO:0013002"	"cone-rod dystrophy 9"	"OMIM:612775"	"Cone-rod dystrophy 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:216"	"ADAM9"	"OMIM:612775"	"cone-rod dystrophy 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"19409519, 23661369, 25091951, 25546566"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAM90ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_17110-OMIM_615458-HP_0000007-GENCC_100002"	"HGNC:17110"	"ADAMTS18"	"MONDO:0014195"	"microcornea-myopic chorioretinal atrophy"	"OMIM:615458"	"Microcornea, myopic chorioretinal atrophy, and telecanthus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17110"	"ADAMTS18"	"OMIM:615458"	"microcornea-myopic chorioretinal atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"22686506, 23356391, 23818446, 24874986"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTS180Microcornea"	"2023-11-30"
"GENCC_000106-HGNC_218-OMIM_225410-HP_0000007-GENCC_100002"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"OMIM:225410"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:218"	"ADAMTS2"	"OMIM:225410"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 07:19:11"	""	""	"10417273, 15373769, 23495203, 26765342"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTS20EhlersDanlos"	"2023-11-30"
"GENCC_000106-HGNC_236-OMIM_606703-HP_0000006-GENCC_100002"	"HGNC:236"	"ADCY5"	"MONDO:0800028"	"dyskinesia with orofacial involvement, autosomal dominant"	"OMIM:606703"	"Dyskinesia with orofacial involvement, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:236"	"ADCY5"	"OMIM:606703"	"familial dyskinesia and facial myokymia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 22:37:40"	""	""	"22782511, 24700542, 27666935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADCY50Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_237-OMIM_616287-HP_0000007-GENCC_100002"	"HGNC:237"	"ADCY6"	"MONDO:0014570"	"lethal congenital contracture syndrome 8"	"OMIM:616287"	"Lethal congenital contracture syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:237"	"ADCY6"	"OMIM:616287"	"lethal congenital contracture syndrome 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-17 10:23:49"	""	""	"24319099, 26257172"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADCY60LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_13841-OMIM_616503-HP_0000007-GENCC_100002"	"HGNC:13841"	"ADGRG6"	"MONDO:0014670"	"lethal congenital contracture syndrome 9"	"OMIM:616503"	"Lethal congenital contracture syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13841"	"ADGRG6"	"OMIM:616503"	"lethal congenital contracture syndrome 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:33:53"	""	""	"25493288, 26004201, 26752647, 29947050"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADGRG60LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_303-OMIM_618000-HP_0000007-GENCC_100002"	"HGNC:303"	"AEBP1"	"MONDO:0054813"	"Ehlers-Danlos syndrome, classic-like, 2"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:303"	"AEBP1"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-03-15 14:36:58"	""	""	"27023906, 29606302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AEBP10EDS"	"2023-11-30"
"GENCC_000106-HGNC_26147-OMIM_617023-HP_0000007-GENCC_100002"	"HGNC:26147"	"AGBL5"	"MONDO:0014871"	"retinitis pigmentosa 75"	"OMIM:617023"	"Retinitis pigmentosa 75"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26147"	"AGBL5"	"OMIM:617023"	"retinitis pigmentosa 75"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 10:23:53"	""	""	"263671875, 26355662, 26720455, 27764769, 27842159"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGBL50RP"	"2023-11-30"
"GENCC_000106-HGNC_20609-OMIM_618006-HP_0000007-GENCC_100002"	"HGNC:20609"	"AIMP2"	"MONDO:0054817"	"leukodystrophy, hypomyelinating, 17"	"OMIM:618006"	"Leukodystrophy, hypomyelinating, 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20609"	"AIMP2"	"OMIM:618006"	"leukodystrophy, hypomyelinating, 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"26795593, 29215095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIMP2-HLD0AIMP2"	"2023-11-30"
"GENCC_000106-HGNC_393-OMIM_615937-HP_0000006-GENCC_100002"	"HGNC:393"	"AKT3"	"MONDO:0014407"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"OMIM:615937"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:393"	"AKT3"	"OMIM:615937"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 10:49:26"	""	""	"18813315, 21159799, 22729223, 22729224, 23745724, 25416470, 25523067, 28969385"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKT30MPPH"	"2023-11-30"
"GENCC_000106-HGNC_409-OMIM_615113-HP_0000007-GENCC_100002"	"HGNC:409"	"ALDH1A3"	"MONDO:0014050"	"isolated microphthalmia 8"	"OMIM:615113"	"Microphthalmia, isolated 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:409"	"ALDH1A3"	"OMIM:615113"	"isolated microphthalmia 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-26 18:56:02"	""	""	"14623956, 23312594, 23591992, 24777706"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH1A30Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_417-OMIM_229600-HP_0000007-GENCC_100002"	"HGNC:417"	"ALDOB"	"MONDO:0009249"	"hereditary fructose intolerance"	"OMIM:229600"	"Fructose intolerance, hereditary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:417"	"ALDOB"	"OMIM:229600"	"hereditary fructose intolerance"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 19:50:34"	""	""	"12205126, 16406649, 18541450, 23430936, 25595217, 25637246, 3383242, 8071980, 9610797"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDOB0FructoseIntol"	"2023-11-30"
"GENCC_000106-HGNC_19358-OMIM_607143-HP_0000007-GENCC_100002"	"HGNC:19358"	"ALG12"	"MONDO:0011783"	"ALG12-congenital disorder of glycosylation"	"OMIM:607143"	"Congenital disorder of glycosylation, type Ig"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19358"	"ALG12"	"OMIM:607143"	"ALG12-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-05 14:55:11"	""	""	"11983712, 12093361, 12217961, 15639192, 17506107, 31481313"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG120ALG12CDG"	"2023-11-30"
"GENCC_000106-HGNC_23157-OMIM_603147-HP_0000007-GENCC_100002"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"OMIM:603147"	"Congenital disorder of glycosylation, type Ic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23157"	"ALG6"	"OMIM:603147"	"ALG6-congenital disorder of glycosylation 1C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:18"	""	""	"10359825, 10924277, 16321363, 19862844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG60ALG6CDG"	"2023-11-30"
"GENCC_000106-HGNC_13743-OMIM_606545-HP_0000007-GENCC_100002"	"HGNC:13743"	"ALOXE3"	"MONDO:0011680"	"autosomal recessive congenital ichthyosis 3"	"OMIM:606545"	"Ichthyosis, congenital, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13743"	"ALOXE3"	"OMIM:606545"	"autosomal recessive congenital ichthyosis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-15 14:40:23"	""	""	"11773004, 19890349, 27025581"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALOXE30ARCI"	"2023-11-30"
"GENCC_000106-HGNC_1494-OMIM_613456-HP_0000007-GENCC_100002"	"HGNC:1494"	"ALX1"	"MONDO:0013271"	"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	"OMIM:613456"	"Frontonasal dysplasia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1494"	"ALX1"	"OMIM:613456"	"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"20451171, 27324866, 35127681, 8673125"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALX10Frontonasal"	"2023-11-30"
"GENCC_000106-HGNC_461-OMIM_301200-HP_0001417-GENCC_100002"	"HGNC:461"	"AMELX"	"MONDO:0010521"	"amelogenesis imperfecta type 1E"	"OMIM:301200"	"Amelogenesis imperfecta, type 1E"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:461"	"AMELX"	"OMIM:301200"	"amelogenesis imperfecta type 1E"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 11:53:53"	""	""	"11406633, 1483698, 21597265, 22243262, 7599636"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMELX0AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_467-OMIM_300990-HP_0001417-GENCC_100002"	"HGNC:467"	"AMMECR1"	"MONDO:0010516"	"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"	"OMIM:300990"	"Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:467"	"AMMECR1"	"OMIM:300990"	"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:57"	""	""	"27811305, 28089922, 29193635, 30737907"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMMECR10MFHIEN"	"2023-11-30"
"GENCC_000106-HGNC_468-OMIM_615511-HP_0000007-GENCC_100002"	"HGNC:468"	"AMPD1"	"MONDO:0014220"	"myopathy due to myoadenylate deaminase deficiency"	"OMIM:615511"	"Myopathy due to myoadenylate deaminase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:468"	"AMPD1"	"OMIM:615511"	"myopathy due to myoadenylate deaminase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-09 12:03:45"	""	""	"10658174, 11102975, 12117480, 16040263, 1616684620, 1.61669E+15, 1631143, 1922051, 19353846, 22538307"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMPD10Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_29101-OMIM_616681-HP_0000007-GENCC_100002"	"HGNC:29101"	"ANKLE2"	"MONDO:0014730"	"microcephaly 16, primary, autosomal recessive"	"OMIM:616681"	"Microcephaly 16, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29101"	"ANKLE2"	"OMIM:616681"	"microcephaly 16, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 11:54:11"	""	""	"25259927, 30214071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANKLE20Microcephaly"	"2023-11-30"
"GENCC_000106-HGNC_25519-OMIM_613728-HP_0000007-GENCC_100002"	"HGNC:25519"	"ANO10"	"MONDO:0013392"	"autosomal recessive spinocerebellar ataxia 10"	"OMIM:613728"	"Spinocerebellar ataxia, autosomal recessive 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25519"	"ANO10"	"OMIM:613728"	"autosomal recessive spinocerebellar ataxia 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 15:19:41"	""	""	"21092923, 25089919, 25182700"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANO100SCAR"	"2023-11-30"
"GENCC_000106-HGNC_14004-OMIM_615034-HP_0000006-GENCC_100002"	"HGNC:14004"	"ANO3"	"MONDO:0014019"	"dystonia 24"	"OMIM:615034"	"Dystonia 24"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14004"	"ANO3"	"OMIM:615034"	"dystonia 24"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 17:28:21"	""	""	"23200863, 24151159, 24442708, 25356970, 25847575, 32116979, 33388357, 34307749"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANO30Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_6211-OMIM_308700-HP_0001417-GENCC_100002"	"HGNC:6211"	"ANOS1"	"MONDO:0010635"	"hypogonadotropic hypogonadism 1 with or without anosmia"	"OMIM:308700"	"Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:6211"	"ANOS1"	"OMIM:308700"	"hypogonadotropic hypogonadism 1 with or without anosmia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 16:57:37"	""	""	"11297579, 1594017, 7677154, 8504298, 9713559"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANOS10Kallmann"	"2023-11-30"
"GENCC_000106-HGNC_564-OMIM_618587-HP_0000006-GENCC_100002"	"HGNC:564"	"AP2M1"	"MONDO:0032823"	"intellectual developmental disorder 60 with seizures"	"OMIM:618587"	"Intellectual developmental disorder 60 with seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:564"	"AP2M1"	"OMIM:618587"	"intellectual developmental disorder 60 with seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:07"	""	""	"31104773"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP2M10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_572-OMIM_614066-HP_0000007-GENCC_100002"	"HGNC:572"	"AP4B1"	"MONDO:0013551"	"hereditary spastic paraplegia 47"	"OMIM:614066"	"Spastic paraplegia 47, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:572"	"AP4B1"	"OMIM:614066"	"hereditary spastic paraplegia 47"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-26 13:45:17"	""	""	"22290197, 24700674, 24781758"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP4B10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_573-OMIM_613744-HP_0000007-GENCC_100002"	"HGNC:573"	"AP4E1"	"MONDO:0013401"	"hereditary spastic paraplegia 51"	"OMIM:613744"	"Spastic paraplegia 51, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:573"	"AP4E1"	"OMIM:613744"	"hereditary spastic paraplegia 51"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-18 06:24:13"	""	""	"20972249, 21620353, 21937992, 23472171, 49029358"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP4E10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_575-OMIM_614067-HP_0000007-GENCC_100002"	"HGNC:575"	"AP4S1"	"MONDO:0013552"	"hereditary spastic paraplegia 52"	"OMIM:614067"	"Spastic paraplegia 52, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:575"	"AP4S1"	"OMIM:614067"	"hereditary spastic paraplegia 52"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 14:32:08"	""	""	"21620353, 25552650, 27444738"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP4S10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_22197-OMIM_613647-HP_0000007-GENCC_100002"	"HGNC:22197"	"AP5Z1"	"MONDO:0013342"	"hereditary spastic paraplegia 48"	"OMIM:613647"	"Spastic paraplegia 48, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22197"	"AP5Z1"	"OMIM:613647"	"hereditary spastic paraplegia 48"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-09 14:16:39"	""	""	"20613862, 27606357, 2760637"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP5Z10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_609-OMIM_207750-HP_0000007-GENCC_100002"	"HGNC:609"	"APOC2"	"MONDO:0008810"	"familial apolipoprotein C-II deficiency"	"OMIM:207750"	"Hyperlipoproteinemia, type Ib"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:609"	"APOC2"	"OMIM:207750"	"familial apolipoprotein C-II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-06 16:14:31"	""	""	"1569385, 1971748, 26772541"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOC20ApoC-II def"	"2023-11-30"
"GENCC_000106-HGNC_638-OMIM_600231-HP_0000006-GENCC_100002"	"HGNC:638"	"AQP5"	"MONDO:0010849"	"palmoplantar keratoderma, Bothnian type"	"OMIM:600231"	"Palmoplantar keratoderma, Bothnian type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:638"	"AQP5"	"OMIM:600231"	"palmoplantar keratoderma, Bothnian type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 09:11:36"	""	""	"23830519, 2386789, 23867895, 275998, 277194"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AQP50PKKs"	"2023-11-30"
"GENCC_000106-HGNC_15853-OMIM_608097-HP_0000007-GENCC_100002"	"HGNC:15853"	"ARFGEF2"	"MONDO:0011966"	"periventricular heterotopia with microcephaly, autosomal recessive"	"OMIM:608097"	"Periventricular heterotopia with microcephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15853"	"ARFGEF2"	"OMIM:608097"	"periventricular heterotopia with microcephaly, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:49"	""	""	"14647276, 19384555, 23755938, 23812912, 25044680, 25160555, 26126837"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARFGEF20PeriventHeter"	"2023-11-30"
"GENCC_000106-HGNC_17090-OMIM_617433-HP_0000007-GENCC_100002"	"HGNC:17090"	"ARHGEF18"	"MONDO:0044314"	"retinitis pigmentosa 78"	"OMIM:617433"	"Retinitis pigmentosa 78"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17090"	"ARHGEF18"	"OMIM:617433"	"retinitis pigmentosa 78"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 07:34:41"	""	""	"28132693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARHGEF180RP"	"2023-11-30"
"GENCC_000106-HGNC_11110-OMIM_614607-HP_0000006-GENCC_100002"	"HGNC:11110"	"ARID1A"	"MONDO:0013819"	"intellectual disability, autosomal dominant 14"	"OMIM:614607"	"Coffin-Siris syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11110"	"ARID1A"	"OMIM:614607"	"intellectual disability, autosomal dominant 14"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 08:50:11"	""	""	"22426308, 23906836, 23929685, 23929686, 25168959, 32888375, 34942405, 35579625"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARID1A0Coff-Sir0syn"	"2023-11-30"
"GENCC_000106-HGNC_17146-OMIM_615434-HP_0000007-GENCC_100002"	"HGNC:17146"	"ARL2BP"	"MONDO:0014186"	"retinitis pigmentosa with or without situs inversus"	"OMIM:615434"	"Retinitis pigmentosa 82 with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17146"	"ARL2BP"	"OMIM:615434"	"retinitis pigmentosa with or without situs inversus"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 22:43:16"	""	""	"23849777, 27790702, 28041643, 29718757, 30210231"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARL2BP0RP"	"2023-11-30"
"GENCC_000106-HGNC_697-OMIM_615685-HP_0000007-GENCC_100002"	"HGNC:697"	"ARL6IP1"	"MONDO:0014304"	"hereditary spastic paraplegia 61"	"OMIM:615685"	"Spastic paraplegia 61, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:697"	"ARL6IP1"	"OMIM:615685"	"hereditary spastic paraplegia 61"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:06"	""	""	"24482476, 27848944, 28471035, 30237576, 30980493, 31272422"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARL6IP10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_23045-OMIM_618433-HP_0000007-GENCC_100002"	"HGNC:23045"	"ARMC2"	"MONDO:0032748"	"spermatogenic failure 38"	"OMIM:618433"	"Spermatogenic failure 38"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23045"	"ARMC2"	"OMIM:618433"	"spermatogenic failure 38"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 14:40:33"	""	""	"30686508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARMC20MMAF"	"2023-11-30"
"GENCC_000106-HGNC_20730-OMIM_617622-HP_0000007-GENCC_100002"	"HGNC:20730"	"ARMC9"	"MONDO:0033308"	"Joubert syndrome 30"	"OMIM:617622"	"Joubert syndrome 30"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20730"	"ARMC9"	"OMIM:617622"	"Joubert syndrome 30"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-03 10:02:29"	""	""	"251422, 251460, 282862, 28625504"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARMC90Joubert"	"2023-11-30"
"GENCC_000106-HGNC_9016-OMIM_263200-HP_0000007-GENCC_100002"	"HGNC:9016"	"PKHD1"	"MONDO:0033004"	"polycystic kidney disease 4"	"OMIM:263200"	"Polycystic kidney disease 4, with or without hepatic disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9016"	"PKHD1"	"OMIM:263200"	"polycystic kidney disease 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 21:44:54"	""	""	"19914852, 19940839, 20413436, 21046169, 24336431, 28375157, 28862642, 30600684, 33554127, 33556586"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARPKD"	"2023-11-30"
"GENCC_000106-HGNC_19048-OMIM_608716-HP_0000007-GENCC_100002"	"HGNC:19048"	"ASPM"	"MONDO:0012106"	"microcephaly 5, primary, autosomal recessive"	"OMIM:608716"	"Microcephaly 5, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19048"	"ASPM"	"OMIM:608716"	"microcephaly 5, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-11 19:29:05"	""	""	"19028728, 20823249, 23611254, 31680123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASPM0Seckel"	"2023-11-30"
"GENCC_000106-HGNC_25903-OMIM_618011-HP_0000007-GENCC_100002"	"HGNC:25903"	"ATAD1"	"MONDO:0044330"	"hyperekplexia 4"	"OMIM:618011"	"Hyperekplexia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25903"	"ATAD1"	"OMIM:618011"	"hyperekplexia 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-03 08:41:23"	""	""	"28180185, 29390050, 29659736"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATAD10Encephalopathy"	"2023-11-30"
"GENCC_000106-HGNC_24526-OMIM_615632-HP_0000006-GENCC_100002"	"HGNC:24526"	"ATL3"	"MONDO:0014286"	"neuropathy, hereditary sensory, type 1F"	"OMIM:615632"	"Neuropathy, hereditary sensory, type IF"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24526"	"ATL3"	"OMIM:615632"	"neuropathy, hereditary sensory, type 1F"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-27 14:01:23"	""	""	"24459106, 24736309, 29768202, 30666337, 30773365"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATL30HSAN"	"2023-11-30"
"GENCC_000106-HGNC_866-OMIM_602722-HP_0000007-GENCC_100002"	"HGNC:866"	"ATP6V0A4"	"MONDO:0011268"	"renal tubular acidosis, distal, 3, with or without sensorineural hearing loss"	"OMIM:602722"	"Distal renal tubular acidosis 3, with or without sensorineural hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:866"	"ATP6V0A4"	"OMIM:602722"	"renal tubular acidosis, distal, 3, with or without sensorineural hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 12:37:54"	""	""	"12414817, 16611712"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V0A40RenalTubulAcid"	"2023-11-30"
"GENCC_000106-HGNC_11391-OMIM_243060-HP_0000007-GENCC_100002"	"HGNC:11391"	"AURKC"	"MONDO:0009461"	"spermatogenic failure 5"	"OMIM:243060"	"Spermatogenic failure 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11391"	"AURKC"	"OMIM:243060"	"spermatogenic failure 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 07:21:20"	""	""	"17192404, 17435757, 19147683, 21733974, 22888167, 251468"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AURKC0MaleInfertility"	"2023-11-30"
"GENCC_000106-HGNC_28596-OMIM_615181-HP_0000007-GENCC_100002"	"HGNC:28596"	"B3GALNT2"	"MONDO:0014071"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"	"OMIM:615181"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28596"	"B3GALNT2"	"OMIM:615181"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-02 14:13:24"	""	""	"23453667, 24084573"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B3GALNT20ADG"	"2023-11-30"
"GENCC_000106-HGNC_923-OMIM_245600-HP_0000007-GENCC_100002"	"HGNC:923"	"B3GAT3"	"MONDO:0009511"	"Larsen-like syndrome, B3GAT3 type"	"OMIM:245600"	"Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:923"	"B3GAT3"	"OMIM:245600"	"Larsen-like syndrome, B3GAT3 type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 07:49:15"	""	""	"20164147, 21763480, 245816, 24668659, 25893793, 26086840, 27871226, 29318063, 31196143, 495764"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B3GAT30MultipleJoint"	"2023-11-30"
"GENCC_000106-HGNC_4117-OMIM_609195-HP_0000007-GENCC_100002"	"HGNC:4117"	"B4GALNT1"	"MONDO:0012213"	"hereditary spastic paraplegia 26"	"OMIM:609195"	"Spastic paraplegia 26, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4117"	"B4GALNT1"	"OMIM:609195"	"hereditary spastic paraplegia 26"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 21:14:19"	""	""	"23746551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B4GALNT10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_930-OMIM_130070-HP_0000007-GENCC_100002"	"HGNC:930"	"B4GALT7"	"MONDO:0020682"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"OMIM:130070"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:930"	"B4GALT7"	"OMIM:130070"	"Ehlers-Danlos syndrome, spondylodysplastic type, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-15 10:24:15"	""	""	"15211654, 20691685, 20809901, 24755949, 26940150"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B4GALT70EhlersDanlos"	"2023-11-30"
"GENCC_000106-HGNC_15685-OMIM_615287-HP_0000007-GENCC_100002"	"HGNC:15685"	"B4GAT1"	"MONDO:0014120"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	"OMIM:615287"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15685"	"B4GAT1"	"OMIM:615287"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:31:25"	""	""	"23359570, 23877401, 26123494"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B4GAT10ADG"	"2023-11-30"
"GENCC_000106-HGNC_18758-OMIM_615984-HP_0000007-GENCC_100002"	"HGNC:18758"	"BBS7"	"MONDO:0014435"	"Bardet-Biedl syndrome 7"	"OMIM:615984"	"Bardet-Biedl syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18758"	"BBS7"	"OMIM:615984"	"Bardet-Biedl syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-26 17:26:04"	""	""	"12567324, 19402160, 21209035, 23572516, 250940, 251090, 251254, 27208204, 31196119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS70BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_16695-OMIM_300475-HP_0001417-GENCC_100002"	"HGNC:16695"	"BCAP31"	"MONDO:0010334"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"OMIM:300475"	"Deafness, dystonia, and cerebral hypomyelination"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:16695"	"BCAP31"	"OMIM:300475"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-25 09:59:57"	""	""	"24011989, 28771251, 30283815"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCAP310DDCH"	"2023-11-30"
"GENCC_000106-HGNC_14211-OMIM_613502-HP_0000007-GENCC_100002"	"HGNC:14211"	"BLNK"	"MONDO:0013289"	"agammaglobulinemia 4, autosomal recessive"	"OMIM:613502"	"?Agammaglobulinemia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14211"	"BLNK"	"OMIM:613502"	"agammaglobulinemia 4, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-14 14:54:50"	""	""	"10583958, 12761551, 24582315, 25893637"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BLNK0Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_20914-OMIM_614077-HP_0000007-GENCC_100002"	"HGNC:20914"	"BLOC1S3"	"MONDO:0013560"	"Hermansky-Pudlak syndrome 8"	"OMIM:614077"	"Hermansky-Pudlak syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20914"	"BLOC1S3"	"OMIM:614077"	"Hermansky-Pudlak syndrome 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-17 13:59:18"	""	""	"15265785, 16385460, 22709368, 29345414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BLOC1S30Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_8549-OMIM_614171-HP_0000007-GENCC_100002"	"HGNC:8549"	"BLOC1S6"	"MONDO:0013606"	"Hermansky-Pudlak syndrome 9"	"OMIM:614171"	"Hermansky-Pudlak syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8549"	"BLOC1S6"	"OMIM:614171"	"Hermansky-Pudlak syndrome 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"10610180, 20301464, 21665000, 22461475"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BLOC1S60Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_1067-OMIM_614856-HP_0000007-GENCC_100002"	"HGNC:1067"	"BMP1"	"MONDO:0013924"	"osteogenesis imperfecta type 13"	"OMIM:614856"	"Osteogenesis imperfecta, type XIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1067"	"BMP1"	"OMIM:614856"	"osteogenesis imperfecta type 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-01 08:51:50"	""	""	"24419319, 25214535, 25402547, 25656619, 27509835, 27576954, 28257626, 30408480, 8951074"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMP10OI"	"2023-11-30"
"GENCC_000106-HGNC_24415-OMIM_614299-HP_0000007-GENCC_100002"	"HGNC:24415"	"BOLA3"	"MONDO:0013675"	"multiple mitochondrial dysfunctions syndrome 2"	"OMIM:614299"	"Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24415"	"BOLA3"	"OMIM:614299"	"multiple mitochondrial dysfunctions syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-22 12:25:30"	""	""	"21944046, 22562699, 24334290, 26741492"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BOLA30MMdys"	"2023-11-30"
"GENCC_000106-HGNC_17342-OMIM_300659-HP_0001417-GENCC_100002"	"HGNC:17342"	"BRWD3"	"MONDO:0010393"	"intellectual disability, X-linked 93"	"OMIM:300659"	"Intellectual developmental disorder, X-linked 93"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:17342"	"BRWD3"	"OMIM:300659"	"intellectual disability, X-linked 93"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-23 22:02:15"	""	""	"17668385, 24462886, 26350204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRWD30XLID"	"2023-11-30"
"GENCC_000106-HGNC_1243-OMIM_617713-HP_0000007-GENCC_100002"	"HGNC:1243"	"C1QBP"	"MONDO:0054677"	"combined oxidative phosphorylation deficiency 33"	"OMIM:617713"	"Combined oxidative phosphorylation deficiency 33"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1243"	"C1QBP"	"OMIM:617713"	"combined oxidative phosphorylation deficiency 33"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:51:09"	""	""	"28498888, 28942965"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C1QBP0OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_14344-OMIM_605670-HP_0000006-GENCC_100002"	"HGNC:14344"	"C1QTNF5"	"MONDO:0011579"	"late-onset retinal degeneration"	"OMIM:605670"	"Retinal degeneration, late-onset, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14344"	"C1QTNF5"	"OMIM:605670"	"late-onset retinal degeneration"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-02 16:42:51"	""	""	"12944416, 21349921, 22110650, 23289492, 26197217, 26513502, 28939808, 29721928, 29847639, 30451557"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C1QTNF50RetinalDegen"	"2023-11-30"
"GENCC_000106-HGNC_1324-OMIM_614379-HP_0000007-GENCC_100002"	"HGNC:1324"	"C4B"	"MONDO:0013720"	"complement component 4b deficiency"	"OMIM:614379"	"C4B deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1324"	"C4B"	"OMIM:614379"	"complement component 4b deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"10092831, 12133986, 12626442, 15294999, 19279649"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C4B0C4Bdef"	"2023-11-30"
"GENCC_000106-HGNC_1382-OMIM_613227-HP_0000007-GENCC_100002"	"HGNC:1382"	"CA8"	"MONDO:0013188"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3"	"OMIM:613227"	"Spinocerebellar ataxia, autosomal recessive 34"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1382"	"CA8"	"OMIM:613227"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"19461874, 21812104, 21937992, 27217339, 31693170"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CA80CerebHypo"	"2023-11-30"
"GENCC_000106-HGNC_1386-OMIM_610427-HP_0000007-GENCC_100002"	"HGNC:1386"	"CABP4"	"MONDO:0012490"	"cone-rod synaptic disorder, congenital nonprogressive"	"OMIM:610427"	"Cone-rod synaptic disorder, congenital nonprogressive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1386"	"CABP4"	"OMIM:610427"	"cone-rod synaptic disorder, congenital nonprogressive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 15:35:31"	""	""	"15452577, 16960802, 19074807, 20157620, 23099293, 25307992"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CABP40ConeRodSynap"	"2023-11-30"
"GENCC_000106-HGNC_1392-OMIM_618285-HP_0000006-GENCC_100002"	"HGNC:1392"	"CACNA1E"	"MONDO:0032657"	"developmental and epileptic encephalopathy, 69"	"OMIM:618285"	"Developmental and epileptic encephalopathy 69"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1392"	"CACNA1E"	"OMIM:618285"	"developmental and epileptic encephalopathy, 69"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 19:01:41"	""	""	"26795593, 29942082, 30343943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1E0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_1463-OMIM_618522-HP_0000006-GENCC_100002"	"HGNC:1463"	"CAMK2G"	"MONDO:0032795"	"intellectual developmental disorder 59"	"OMIM:618522"	"Intellectual developmental disorder, autosomal dominant 59"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1463"	"CAMK2G"	"OMIM:618522"	"intellectual developmental disorder 59"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-14 15:47:25"	""	""	"1287821998, 23033978, 28135719, 30109124, 30184290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAMK2G0DevDelay"	"2023-11-30"
"GENCC_000106-HGNC_1476-OMIM_616907-HP_0000007-GENCC_100002"	"HGNC:1476"	"CAPN1"	"MONDO:0014827"	"autosomal recessive spastic paraplegia type 76"	"OMIM:616907"	"Spastic paraplegia 76, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1476"	"CAPN1"	"OMIM:616907"	"autosomal recessive spastic paraplegia type 76"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-24 22:21:36"	""	""	"27153400, 27320912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAPN10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_27089-OMIM_618131-HP_0000007-GENCC_100002"	"HGNC:27089"	"CARMIL2"	"MONDO:0029134"	"severe combined immunodeficiency due to CARMIL2 deficiency"	"OMIM:618131"	"Immunodeficiency 58"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27089"	"CARMIL2"	"OMIM:618131"	"severe combined immunodeficiency due to CARMIL2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-04 17:11:18"	""	""	"27647349, 28112205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARMIL20CID"	"2023-11-30"
"GENCC_000106-HGNC_32700-OMIM_614679-HP_0000007-GENCC_100002"	"HGNC:32700"	"DNAAF19"	"MONDO:0013854"	"primary ciliary dyskinesia 17"	"OMIM:614679"	"Ciliary dyskinesia, primary, 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32700"	"CCDC103"	"OMIM:614679"	"primary ciliary dyskinesia 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 12:51:12"	""	""	"22581229, 30067075, 31273583, 31879361"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC1030PCD"	"2023-11-30"
"GENCC_000106-HGNC_25244-OMIM_613807-HP_0000007-GENCC_100002"	"HGNC:25244"	"CCDC39"	"MONDO:0013434"	"primary ciliary dyskinesia 14"	"OMIM:613807"	"Ciliary dyskinesia, primary, 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25244"	"CCDC39"	"OMIM:613807"	"primary ciliary dyskinesia 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 09:07:44"	""	""	"21131972, 22693285, 23255504"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC390PCD"	"2023-11-30"
"GENCC_000106-HGNC_26090-OMIM_613808-HP_0000007-GENCC_100002"	"HGNC:26090"	"CCDC40"	"MONDO:0013435"	"primary ciliary dyskinesia 15"	"OMIM:613808"	"Ciliary dyskinesia, primary, 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26090"	"CCDC40"	"OMIM:613808"	"primary ciliary dyskinesia 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 14:20:47"	""	""	"21131974, 22693285, 23255504"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC400PCD"	"2023-11-30"
"GENCC_000106-HGNC_29937-OMIM_615504-HP_0000007-GENCC_100002"	"HGNC:29937"	"CCDC65"	"MONDO:0014215"	"primary ciliary dyskinesia 27"	"OMIM:615504"	"Ciliary dyskinesia, primary, 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29937"	"CCDC65"	"OMIM:615504"	"primary ciliary dyskinesia 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23991085, 24094744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC650PCD"	"2023-11-30"
"GENCC_000106-HGNC_21708-OMIM_603284-HP_0000006-GENCC_100002"	"HGNC:21708"	"CCM2"	"MONDO:0011304"	"cerebral cavernous malformation 2"	"OMIM:603284"	"Cerebral cavernous malformations-2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21708"	"CCM2"	"OMIM:603284"	"cerebral cavernous malformation 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-05 09:59:43"	""	""	"14624391, 17041941, 17160895, 18060436, 18300272, 19088123, 19259391, 21859843, 2468908, 24689081"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCM20CerebCavern"	"2023-11-30"
"GENCC_000106-HGNC_18576-OMIM_615872-HP_0000007-GENCC_100002"	"HGNC:18576"	"CCNO"	"MONDO:0014378"	"primary ciliary dyskinesia 29"	"OMIM:615872"	"Ciliary dyskinesia, primary, 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18576"	"CCNO"	"OMIM:615872"	"primary ciliary dyskinesia 29"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-12 11:30:37"	""	""	"24747639"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCNO0PCD"	"2023-11-30"
"GENCC_000106-HGNC_1677-OMIM_610163-HP_0000007-GENCC_100002"	"HGNC:1677"	"CD247"	"MONDO:0012426"	"immunodeficiency 25"	"OMIM:610163"	"?Immunodeficiency 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1677"	"CD247"	"OMIM:610163"	"immunodeficiency 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"16672702, 17170122, 26542031, 27555457"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD2470SCID"	"2023-11-30"
"GENCC_000106-HGNC_1673-OMIM_615617-HP_0000007-GENCC_100002"	"HGNC:1673"	"CD3D"	"MONDO:0014280"	"immunodeficiency 19"	"OMIM:615617"	"Immunodeficiency 19, severe combined"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1673"	"CD3D"	"OMIM:615617"	"immunodeficiency 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"14602880, 15546002"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD3D0SCID"	"2023-11-30"
"GENCC_000106-HGNC_1674-OMIM_615615-HP_0000007-GENCC_100002"	"HGNC:1674"	"CD3E"	"MONDO:0014278"	"immunodeficiency 18"	"OMIM:615615"	"Immunodeficiency 18, SCID variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1674"	"CD3E"	"OMIM:615615"	"immunodeficiency 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-29 09:12:18"	""	""	"15546002, 8490660"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD3E0SCID"	"2023-11-30"
"GENCC_000106-HGNC_1675-OMIM_615607-HP_0000007-GENCC_100002"	"HGNC:1675"	"CD3G"	"MONDO:0014276"	"combined immunodeficiency due to CD3gamma deficiency"	"OMIM:615607"	"Immunodeficiency 17, CD3 gamma deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1675"	"CD3G"	"OMIM:615607"	"combined immunodeficiency due to CD3gamma deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:45"	""	""	"1635567, 17277165, 24910257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD3G0CID"	"2023-11-30"
"GENCC_000106-HGNC_1718-OMIM_616958-HP_0000007-GENCC_100002"	"HGNC:1718"	"CDC14A"	"MONDO:0014849"	"autosomal recessive nonsyndromic deafness 105"	"OMIM:616958"	"OMIM:616958"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1718"	"CDC14A"	"OMIM:616958"	"autosomal recessive nonsyndromic deafness 105"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"251318, 27259055, 282644"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC14A0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_1739-OMIM_617063-HP_0000007-GENCC_100002"	"HGNC:1739"	"CDC45"	"MONDO:0014894"	"Meier-Gorlin syndrome 7"	"OMIM:617063"	"Meier-Gorlin syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1739"	"CDC45"	"OMIM:617063"	"Meier-Gorlin syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-01 12:09:49"	""	""	"11416137, 121376, 149250, 27374770, 282832, 30986546"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC450MeierGorlin"	"2023-11-30"
"GENCC_000106-HGNC_14628-OMIM_616910-HP_0000007-GENCC_100002"	"HGNC:14628"	"CDCA7"	"MONDO:0014828"	"immunodeficiency-centromeric instability-facial anomalies syndrome 3"	"OMIM:616910"	"Immunodeficiency-centromeric instability-facial anomalies syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14628"	"CDCA7"	"OMIM:616910"	"immunodeficiency-centromeric instability-facial anomalies syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-22 09:02:17"	""	""	"26216346, 26851945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDCA70ImmCentInstFac"	"2023-11-30"
"GENCC_000106-HGNC_18672-OMIM_604804-HP_0000007-GENCC_100002"	"HGNC:18672"	"CDK5RAP2"	"MONDO:0011488"	"microcephaly 3, primary, autosomal recessive"	"OMIM:604804"	"Microcephaly 3, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18672"	"CDK5RAP2"	"OMIM:604804"	"microcephaly 3, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-02 08:32:49"	""	""	"15793586, 20460369, 22887808, 23587236, 25899944, 26436113, 28004384"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDK5RAP20Seckel"	"2023-11-30"
"GENCC_000106-HGNC_24576-OMIM_613804-HP_0000007-GENCC_100002"	"HGNC:24576"	"CDT1"	"MONDO:0013431"	"Meier-Gorlin syndrome 4"	"OMIM:613804"	"Meier-Gorlin syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24576"	"CDT1"	"OMIM:613804"	"Meier-Gorlin syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 19:21:40"	""	""	"10898791, 20335175, 21358631, 21358632, 22333897, 23516378, 28425089, 2845089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDT10MeierGorlin"	"2023-11-30"
"GENCC_000106-HGNC_24866-OMIM_616781-HP_0000007-GENCC_100002"	"HGNC:24866"	"CEP104"	"MONDO:0014770"	"Joubert syndrome 25"	"OMIM:616781"	"Joubert syndrome 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24866"	"CEP104"	"OMIM:616781"	"Joubert syndrome 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 09:35:57"	""	""	"26477546"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP1040Joubert"	"2023-11-30"
"GENCC_000106-HGNC_26530-OMIM_614779-HP_0000007-GENCC_100002"	"HGNC:26530"	"CFAP53"	"MONDO:0013887"	"heterotaxy, visceral, 6, autosomal"	"OMIM:614779"	"Heterotaxy, visceral, 6, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26530"	"CFAP53"	"OMIM:614779"	"heterotaxy, visceral, 6, autosomal"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-29 10:07:07"	""	""	"22577226, 25504577, 26531781"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFAP530CFAP53rel"	"2023-11-30"
"GENCC_000106-HGNC_18292-OMIM_605376-HP_0000006-GENCC_100002"	"HGNC:18292"	"CFC1"	"MONDO:0011546"	"heterotaxy, visceral, 2, autosomal"	"OMIM:605376"	"Heterotaxy, visceral, 2, autosomal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18292"	"CFC1"	"OMIM:605376"	"heterotaxy, visceral, 2, autosomal"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:01"	""	""	"11062482, 17072672, 18538293, 21864452, 25423076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFC10Heterotaxy"	"2023-11-30"
"GENCC_000106-HGNC_24668-OMIM_614809-HP_0000006-GENCC_100002"	"HGNC:24668"	"CFHR5"	"MONDO:0013892"	"C3 glomerulonephritis"	"OMIM:614809"	"Nephropathy due to CFHR5 deficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24668"	"CFHR5"	"OMIM:614809"	"C3 glomerulonephritis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-22 12:39:58"	""	""	"20513133, 20800271, 21566112, 22673887, 26825529, 28056875"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFHR50Glomeru"	"2023-11-30"
"GENCC_000106-HGNC_1912-OMIM_254210-HP_0000007-GENCC_100002"	"HGNC:1912"	"CHAT"	"MONDO:0009689"	"congenital myasthenic syndrome 6"	"OMIM:254210"	"Myasthenic syndrome, congenital, 6, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1912"	"CHAT"	"OMIM:254210"	"congenital myasthenic syndrome 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-18 15:10:09"	""	""	"11172068, 12548525, 21786365, 23292760"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHAT0CMS"	"2023-11-30"
"GENCC_000106-HGNC_21645-OMIM_616710-HP_0000006-GENCC_100002"	"HGNC:21645"	"CHCHD2"	"MONDO:0014742"	"Parkinson disease 22, autosomal dominant"	"OMIM:616710"	"Parkinson disease 22, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21645"	"CHCHD2"	"OMIM:616710"	"Parkinson disease 22, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:01"	""	""	"25662902, 25728432, 26067110, 26343503, 26639156, 26705026, 26725463, 26764027, 27538669, 28432706, 30338296, 30496485"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHCHD20Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_1938-OMIM_602541-HP_0000007-GENCC_100002"	"HGNC:1938"	"CHKB"	"MONDO:0011246"	"megaconial type congenital muscular dystrophy"	"OMIM:602541"	"Muscular dystrophy, congenital, megaconial type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1938"	"CHKB"	"OMIM:602541"	"megaconial type congenital muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-07 04:43:48"	""	""	"21665002, 23692895"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHKB0CMD"	"2023-11-30"
"GENCC_000106-HGNC_8740-OMIM_614961-HP_0000007-GENCC_100002"	"HGNC:8740"	"CHMP1A"	"MONDO:0013990"	"pontocerebellar hypoplasia type 8"	"OMIM:614961"	"Pontocerebellar hypoplasia, type 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8740"	"CHMP1A"	"OMIM:614961"	"pontocerebellar hypoplasia type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 22:26:35"	""	""	"2302333, 23023333, 30315573, 9300017"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHMP1A0PCH"	"2023-11-30"
"GENCC_000106-HGNC_16171-OMIM_605387-HP_0000006-GENCC_100002"	"HGNC:16171"	"CHMP4B"	"MONDO:0011547"	"cataract 31 multiple types"	"OMIM:605387"	"Cataract 31, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16171"	"CHMP4B"	"OMIM:605387"	"cataract 31 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:11"	""	""	"17701905, 17701915"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHMP4B0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_29861-OMIM_309300-HP_0001417-GENCC_100002"	"HGNC:29861"	"CHRDL1"	"MONDO:0010649"	"isolated congenital megalocornea"	"OMIM:309300"	"Megalocornea 1, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:29861"	"CHRDL1"	"OMIM:309300"	"isolated congenital megalocornea"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 11:28:35"	""	""	"22284829, 25093588"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRDL10Megaloco"	"2023-11-30"
"GENCC_000106-HGNC_1956-OMIM_610353-HP_0000006-GENCC_100002"	"HGNC:1956"	"CHRNA2"	"MONDO:0012474"	"autosomal dominant nocturnal frontal lobe epilepsy 4"	"OMIM:610353"	"Epilepsy, nocturnal frontal lobe, type 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1956"	"CHRNA2"	"OMIM:610353"	"autosomal dominant nocturnal frontal lobe epilepsy 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:11"	""	""	"16826524, 25770198, 25847220, 26309560, 30809122, 33240318, 33391346"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNA20ADNFLE"	"2023-11-30"
"GENCC_000106-HGNC_1962-OMIM_605375-HP_0000006-GENCC_100002"	"HGNC:1962"	"CHRNB2"	"MONDO:0011545"	"autosomal dominant nocturnal frontal lobe epilepsy 3"	"OMIM:605375"	"Epilepsy, nocturnal frontal lobe, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1962"	"CHRNB2"	"OMIM:605375"	"autosomal dominant nocturnal frontal lobe epilepsy 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 10:43:41"	""	""	"11062464, 11104662, 17900292, 18456869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNB20ADNFLE"	"2023-11-30"
"GENCC_000106-HGNC_17422-OMIM_618167-HP_0000007-GENCC_100002"	"HGNC:17422"	"CHST11"	"MONDO:0032574"	"osteochondrodysplasia, brachydactyly, and overlapping malformed digits"	"OMIM:618167"	"?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17422"	"CHST11"	"OMIM:618167"	"osteochondrodysplasia, brachydactyly, and overlapping malformed digits"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:10"	""	""	"16079159, 26436107, 29514872"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHST110CHST11rel"	"2023-11-30"
"GENCC_000106-HGNC_24464-OMIM_601776-HP_0000007-GENCC_100002"	"HGNC:24464"	"CHST14"	"MONDO:0020681"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"OMIM:601776"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24464"	"CHST14"	"OMIM:601776"	"Ehlers-Danlos syndrome, musculocontractural type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-30 19:57:53"	""	""	"11666007, 20533528, 25703627"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHST140CHST14CDG"	"2023-11-30"
"GENCC_000106-HGNC_1971-OMIM_143095-HP_0000007-GENCC_100002"	"HGNC:1971"	"CHST3"	"MONDO:0007738"	"spondyloepiphyseal dysplasia with congenital joint dislocations"	"OMIM:143095"	"Spondyloepiphyseal dysplasia with congenital joint dislocations"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1971"	"CHST3"	"OMIM:143095"	"spondyloepiphyseal dysplasia with congenital joint dislocations"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 22:19:58"	""	""	"11696535, 18513679, 20830804, 2272425, 24300290, 280330775, 28229453"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHST30Spondyloepiphys"	"2023-11-30"
"GENCC_000106-HGNC_17198-OMIM_605282-HP_0000007-GENCC_100002"	"HGNC:17198"	"CHSY1"	"MONDO:0011533"	"temtamy preaxial brachydactyly syndrome"	"OMIM:605282"	"Temtamy preaxial brachydactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17198"	"CHSY1"	"OMIM:605282"	"temtamy preaxial brachydactyly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"21129727, 21129728, 22280990, 24269551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHSY10Temtamy"	"2023-11-30"
"GENCC_000106-HGNC_14214-OMIM_617600-HP_0000006-GENCC_100002"	"HGNC:14214"	"CIC"	"MONDO:0030910"	"intellectual disability, autosomal dominant 45"	"OMIM:617600"	"Intellectual developmental disorder, autosomal dominant 45"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14214"	"CIC"	"OMIM:617600"	"intellectual disability, autosomal dominant 45"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-07 15:26:59"	""	""	"21076407, 24307393, 28263302, 28288114, 32820034, 35165976"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CIC0CerebFolateDef"	"2023-11-30"
"GENCC_000106-HGNC_2037-OMIM_248250-HP_0000007-GENCC_100002"	"HGNC:2037"	"CLDN16"	"MONDO:0009550"	"renal hypomagnesemia 3"	"OMIM:248250"	"Hypomagnesemia 3, renal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2037"	"CLDN16"	"OMIM:248250"	"renal hypomagnesemia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 22:11:16"	""	""	"10390358, 10878661, 18003771, 25852890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLDN160Hypomagnesemia"	"2023-11-30"
"GENCC_000106-HGNC_2040-OMIM_248190-HP_0000007-GENCC_100002"	"HGNC:2040"	"CLDN19"	"MONDO:0009548"	"renal hypomagnesemia 5 with ocular involvement"	"OMIM:248190"	"Hypomagnesemia 5, renal, with ocular involvement"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2040"	"CLDN19"	"OMIM:248190"	"renal hypomagnesemia 5 with ocular involvement"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 16:30:17"	""	""	"21030577, 22422540, 23301036"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLDN190Hypomagnesemia"	"2023-11-30"
"GENCC_000106-HGNC_2076-OMIM_256731-HP_0000007-GENCC_100002"	"HGNC:2076"	"CLN5"	"MONDO:0009745"	"neuronal ceroid lipofuscinosis 5"	"OMIM:256731"	"Ceroid lipofuscinosis, neuronal, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2076"	"CLN5"	"OMIM:256731"	"neuronal ceroid lipofuscinosis 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:09:46"	""	""	"20157158"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLN50CLN"	"2023-11-30"
"GENCC_000106-HGNC_30664-OMIM_616271-HP_0000007-GENCC_100002"	"HGNC:30664"	"CLPB"	"MONDO:0014561"	"3-methylglutaconic aciduria, type VIIB"	"OMIM:616271"	"3-methylglutaconic aciduria, type VIIB, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30664"	"CLPB"	"OMIM:616271"	"3-methylglutaconic aciduria, type VIIB"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-27 14:30:50"	""	""	"25473036, 25597510, 25597511, 25650066, 28687938"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLPB03Methyl"	"2023-11-30"
"GENCC_000106-HGNC_2148-OMIM_613756-HP_0000007-GENCC_100002"	"HGNC:2148"	"CNGA1"	"MONDO:0013405"	"retinitis pigmentosa 49"	"OMIM:613756"	"Retinitis pigmentosa 49"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2148"	"CNGA1"	"OMIM:613756"	"retinitis pigmentosa 49"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-08 10:30:21"	""	""	"25268133, 26496393, 27391953, 7479749"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNGA10RP"	"2023-11-30"
"GENCC_000106-HGNC_2151-OMIM_613767-HP_0000007-GENCC_100002"	"HGNC:2151"	"CNGB1"	"MONDO:0013413"	"retinitis pigmentosa 45"	"OMIM:613767"	"Retinitis pigmentosa 45"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2151"	"CNGB1"	"OMIM:613767"	"retinitis pigmentosa 45"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 20:12:55"	""	""	"11379879, 15557452, 21987686, 23661369, 24043777, 26306921, 26667666, 28056120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNGB10RP"	"2023-11-30"
"GENCC_000106-HGNC_18621-OMIM_614576-HP_0000007-GENCC_100002"	"HGNC:18621"	"COG6"	"MONDO:0013810"	"COG6-congenital disorder of glycosylation"	"OMIM:614576"	"Congenital disorder of glycosylation, type IIl"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18621"	"COG6"	"OMIM:614576"	"COG6-ongenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-18 13:49:03"	""	""	"20605848, 23430903, 26260076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COG60COG6CDG"	"2023-11-30"
"GENCC_000106-HGNC_2190-OMIM_616720-HP_0000007-GENCC_100002"	"HGNC:2190"	"COL13A1"	"MONDO:0014745"	"congenital myasthenic syndrome 19"	"OMIM:616720"	"Myasthenic syndrome, congenital, 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2190"	"COL13A1"	"OMIM:616720"	"congenital myasthenic syndrome 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 12:56:40"	""	""	"11583983, 20844119, 26626625, 27111861"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL13A10CMS<br>"	"2023-11-30"
"GENCC_000106-HGNC_17213-OMIM_265050-HP_0000007-GENCC_100002"	"HGNC:17213"	"COLEC11"	"MONDO:0009927"	"3MC syndrome 2"	"OMIM:265050"	"3MC syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17213"	"COLEC11"	"OMIM:265050"	"3MC syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:49"	""	""	"21258343, 25912189, 26789649, 27088797, 28301481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COLEC1103MC"	"2023-11-30"
"GENCC_000106-HGNC_2226-OMIM_603034-HP_0000007-GENCC_100002"	"HGNC:2226"	"COLQ"	"MONDO:0011281"	"congenital myasthenic syndrome 5"	"OMIM:603034"	"Myasthenic syndrome, congenital, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2226"	"COLQ"	"OMIM:603034"	"congenital myasthenic syndrome 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-30 15:50:50"	""	""	"18180250, 22678886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COLQ0CMS"	"2023-11-30"
"GENCC_000106-HGNC_2230-OMIM_616414-HP_0000006-GENCC_100002"	"HGNC:2230"	"COPA"	"MONDO:0014629"	"autoimmune interstitial lung disease-arthritis syndrome"	"OMIM:616414"	"{Autoinflammation and autoimmunity, systemic, with immune dysregulation}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2230"	"COPA"	"OMIM:616414"	"autoimmune interstitial lung disease-arthritis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-30 19:11:34"	""	""	"25894502, 27048656"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COPA0AutoimmuneLung"	"2023-11-30"
"GENCC_000106-HGNC_2244-OMIM_616733-HP_0000007-GENCC_100002"	"HGNC:2244"	"COQ7"	"MONDO:0014754"	"primary coenzyme Q10 deficiency 8"	"OMIM:616733"	"Coenzyme Q10 deficiency, primary, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2244"	"COQ7"	"OMIM:616733"	"primary coenzyme Q10 deficiency 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-22 01:52:10"	""	""	"26084283, 28409910, 30369941, 31240163, 36454683"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COQ70CoQ10Def"	"2023-11-30"
"GENCC_000106-HGNC_25302-OMIM_614654-HP_0000007-GENCC_100002"	"HGNC:25302"	"COQ9"	"MONDO:0013840"	"encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"	"OMIM:614654"	"Coenzyme Q10 deficiency, primary, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25302"	"COQ9"	"OMIM:614654"	"encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 12:34:03"	""	""	"19375058, 23255162, 26081641"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COQ90CoQ10Def"	"2023-11-30"
"GENCC_000106-HGNC_2252-OMIM_615401-HP_0000007-GENCC_100002"	"HGNC:2252"	"CORO1A"	"MONDO:0014168"	"severe combined immunodeficiency due to CORO1A deficiency"	"OMIM:615401"	"Immunodeficiency 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2252"	"CORO1A"	"OMIM:615401"	"severe combined immunodeficiency due to CORO1A deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"18836449, 23522482, 25073507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CORO1A0SCID"	"2023-11-30"
"GENCC_000106-HGNC_2260-OMIM_619046-HP_0000007-GENCC_100002"	"HGNC:2260"	"COX10"	"MONDO:0033635"	"mitochondrial complex 4 deficiency, nuclear type 3"	"OMIM:619046"	"Mitochondrial complex IV deficiency, nuclear type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2260"	"COX10"	"OMIM:619046"	"mitochondrial complex 4 deficiency, nuclear type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:00"	""	""	"10767350, 12928484, 15455402, 16103131, 22622581, 24100867"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX100MC4def"	"2023-11-30"
"GENCC_000106-HGNC_26970-OMIM_619054-HP_0000007-GENCC_100002"	"HGNC:26970"	"COX20"	"MONDO:0033645"	"mitochondrial complex 4 deficiency, nuclear type 11"	"OMIM:619054"	"Mitochondrial complex IV deficiency, nuclear type 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26970"	"COX20"	"OMIM:619054"	"mitochondrial complex 4 deficiency, nuclear type 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-26 18:06:15"	""	""	"391839, 411948, 23125284, 24202787"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX200MC4def"	"2023-11-30"
"GENCC_000106-HGNC_2277-OMIM_616039-HP_0000007-GENCC_100002"	"HGNC:2277"	"COX6A1"	"MONDO:0014467"	"Charcot-Marie-Tooth disease recessive intermediate D"	"OMIM:616039"	"Charcot-Marie-Tooth disease, recessive intermediate D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2277"	"COX6A1"	"OMIM:616039"	"Charcot-Marie-Tooth disease recessive intermediate D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:58"	""	""	"10546875, 25152455, 26302975, 27549087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX6A10CMT"	"2023-11-30"
"GENCC_000106-HGNC_2280-OMIM_619051-HP_0000007-GENCC_100002"	"HGNC:2280"	"COX6B1"	"MONDO:0033637"	"mitochondrial complex 4 deficiency, nuclear type 7"	"OMIM:619051"	"Mitochondrial complex IV deficiency, nuclear type 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2280"	"COX6B1"	"OMIM:619051"	"mitochondrial complex 4 deficiency, nuclear type 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:00"	""	""	"18499082, 22277967, 24781756"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX6B10MC4def"	"2023-11-30"
"GENCC_000106-HGNC_2340-OMIM_614499-HP_0000007-GENCC_100002"	"HGNC:2340"	"CRADD"	"MONDO:0013785"	"intellectual disability, autosomal recessive 34"	"OMIM:614499"	"Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2340"	"CRADD"	"OMIM:614499"	"intellectual disability, autosomal recessive 34"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-02 15:50:03"	""	""	"22279524, 27773430, 28686357, 30167849, 30914828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRADD0MentalRe028"	"2023-11-30"
"GENCC_000106-HGNC_2379-OMIM_610682-HP_0000007-GENCC_100002"	"HGNC:2379"	"CRTAP"	"MONDO:0012536"	"osteogenesis imperfecta type 7"	"OMIM:610682"	"Osteogenesis imperfecta, type VII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2379"	"CRTAP"	"OMIM:610682"	"osteogenesis imperfecta type 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 09:05:45"	""	""	"17055431, 171892541, 17192541, 19550437, 19862557, 21955071, 23054245, 24715559, 25604815"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRTAP0CRTAPrel"	"2023-11-30"
"GENCC_000106-HGNC_2398-OMIM_601547-HP_0000006-GENCC_100002"	"HGNC:2398"	"CRYBB2"	"MONDO:0011104"	"cataract 3 multiple types"	"OMIM:601547"	"Cataract 3, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2398"	"CRYBB2"	"OMIM:601547"	"cataract 3 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 15:38:35"	""	""	"10634616, 15889016, 16179907, 1707874, 17234267, 18587492, 19182255, 21402992, 21866213, 24319337, 24704203, 24968223, 27385965, 28528950, 28839118, 30078984, 9158139"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYBB20CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2410-OMIM_604307-HP_0000006-GENCC_100002"	"HGNC:2410"	"CRYGC"	"MONDO:0100436"	"cataract 2, multiple types"	"OMIM:604307"	"Cataract 2, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2410"	"CRYGC"	"OMIM:604307"	"pulverulent cataract"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"12011157, 18618005, 19204787, 22052681, 22876111, 23508780, 30450742, 32811259, 33510601, 36246175"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYGC0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2411-OMIM_115700-HP_0000006-GENCC_100002"	"HGNC:2411"	"CRYGD"	"MONDO:0007281"	"cataract 4 multiple types"	"OMIM:115700"	"Cataract 4, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2411"	"CRYGD"	"OMIM:115700"	"cataract 4 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 04:02:39"	""	""	"10704279, 17724170, 18079686, 18334953, 18587492, 19668596, 21655238, 23936409, 26147294, 29914532, 33460241"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYGD0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2417-OMIM_116100-HP_0000006-GENCC_100002"	"HGNC:2417"	"CRYGS"	"MONDO:0007284"	"cataract 20 multiple types"	"OMIM:116100"	"Cataract 20, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2417"	"CRYGS"	"OMIM:116100"	"cataract 20 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:13"	""	""	"11121426, 12079281, 16141006, 18587492, 19262743, 19558189, 21244846, 24287181, 24328668, 28450710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYGS0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2481-OMIM_607936-HP_0000007-GENCC_100002"	"HGNC:2481"	"CSTA"	"MONDO:0011937"	"peeling skin syndrome 4"	"OMIM:607936"	"Peeling skin syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2481"	"CSTA"	"OMIM:607936"	"peeling skin syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-10 14:18:55"	""	""	"21944047, 23534700, 25400170, 26684698"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSTA0PeelingS02"	"2023-11-30"
"GENCC_000106-HGNC_2494-OMIM_617915-HP_0000006-GENCC_100002"	"HGNC:2494"	"CTBP1"	"MONDO:0060666"	"hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"OMIM:617915"	"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2494"	"CTBP1"	"OMIM:617915"	"hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-11 23:51:53"	""	""	"27094857, 31041561"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTBP10CTBP1rel"	"2023-11-30"
"GENCC_000106-HGNC_2519-OMIM_615897-HP_0000007-GENCC_100002"	"HGNC:2519"	"CTPS1"	"MONDO:0014391"	"severe combined immunodeficiency due to CTPS1 deficiency"	"OMIM:615897"	"Immunodeficiency 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2519"	"CTPS1"	"OMIM:615897"	"severe combined immunodeficiency due to CTPS1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-20 13:55:54"	""	""	"24870241"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTPS10CID"	"2023-11-30"
"GENCC_000106-HGNC_10664-OMIM_250410-HP_0000007-GENCC_100002"	"HGNC:10664"	"CWC27"	"MONDO:0009598"	"metaphyseal chondrodysplasia-retinitis pigmentosa syndrome"	"OMIM:250410"	"Retinitis pigmentosa with or without skeletal anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10664"	"CWC27"	"OMIM:250410"	"metaphyseal chondrodysplasia-retinitis pigmentosa syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-06 22:30:17"	""	""	"28285769"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CWC270Syndromic RP"	"2023-11-30"
"GENCC_000106-HGNC_2577-OMIM_233690-HP_0000007-GENCC_100002"	"HGNC:2577"	"CYBA"	"MONDO:0009308"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-negative"	"OMIM:233690"	"Chronic granulomatous disease 4, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2577"	"CYBA"	"OMIM:233690"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-negative"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-01 19:26:46"	""	""	"10910929, 18037347, 18292807, 18410635, 20167518, 22876374"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYBA0ChronicGran"	"2023-11-30"
"GENCC_000106-HGNC_2590-OMIM_613743-HP_0000007-GENCC_100002"	"HGNC:2590"	"CYP11A1"	"MONDO:0013400"	"Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency"	"OMIM:613743"	"Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2590"	"CYP11A1"	"OMIM:613743"	"Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-11 17:10:31"	""	""	"15507506, 22435390, 229968487, 27855232"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP11A10AdrenalI"	"2023-11-30"
"GENCC_000106-HGNC_2600-OMIM_201910-HP_0000007-GENCC_100002"	"HGNC:2600"	"CYP21A2"	"MONDO:0008728"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"OMIM:201910"	"Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2600"	"CYP21A2"	"OMIM:201910"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-04 17:06:36"	""	""	"10536001, 10857554, 11836313, 14671187, 14715874, 18204267, 27041116"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP21A20AdrenalHyp"	"2023-11-30"
"GENCC_000106-HGNC_20581-OMIM_614416-HP_0000007-GENCC_100002"	"HGNC:20581"	"CYP26B1"	"MONDO:0013740"	"lethal occipital encephalocele-skeletal dysplasia syndrome"	"OMIM:614416"	"Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20581"	"CYP26B1"	"OMIM:614416"	"lethal occipital encephalocele-skeletal dysplasia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-02 19:47:46"	""	""	"15030763, 22019272, 27410456, 37755482"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP26B10Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_2606-OMIM_264700-HP_0000007-GENCC_100002"	"HGNC:2606"	"CYP27B1"	"MONDO:0020723"	"vitamin D-dependent rickets, type 1A"	"OMIM:264700"	"Vitamin D-dependent rickets, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2606"	"CYP27B1"	"OMIM:264700"	"vitamin D-dependent rickets, type 1A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 22:28:40"	""	""	"17488797, 22443290, 24818008, 27353739, 9837822"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP27B10VitaminD"	"2023-11-30"
"GENCC_000106-HGNC_20582-OMIM_615030-HP_0000007-GENCC_100002"	"HGNC:20582"	"CYP2U1"	"MONDO:0014015"	"hereditary spastic paraplegia 56"	"OMIM:615030"	"Spastic paraplegia 56, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20582"	"CYP2U1"	"OMIM:615030"	"hereditary spastic paraplegia 56"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-29 15:06:07"	""	""	"23176821, 26936192, 27292318"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP2U10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_26820-OMIM_604777-HP_0000007-GENCC_100002"	"HGNC:26820"	"CYP4F22"	"MONDO:0011485"	"autosomal recessive congenital ichthyosis 5"	"OMIM:604777"	"Ichthyosis, congenital, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26820"	"CYP4F22"	"OMIM:604777"	"autosomal recessive congenital ichthyosis 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-24 14:03:50"	""	""	"16436457, 24397709, 26762237, 27025581"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP4F220Ichthyos"	"2023-11-30"
"GENCC_000106-HGNC_25538-OMIM_611105-HP_0000007-GENCC_100002"	"HGNC:25538"	"DARS2"	"MONDO:0012622"	"leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"	"OMIM:611105"	"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25538"	"DARS2"	"OMIM:611105"	"leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 20:06:34"	""	""	"17384640, 24566671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DARS20Leukoeneph"	"2023-11-30"
"GENCC_000106-HGNC_2705-OMIM_610048-HP_0000006-GENCC_100002"	"HGNC:2705"	"DCN"	"MONDO:0012401"	"congenital stromal corneal dystrophy"	"OMIM:610048"	"Corneal dystrophy, congenital stromal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2705"	"DCN"	"OMIM:610048"	"congenital stromal corneal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 21:36:13"	""	""	"15671264, 16935612, 19337156, 21893019, 21993463, 22870031, 24413633, 27366696"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCN0CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_29106-OMIM_615033-HP_0000007-GENCC_100002"	"HGNC:29106"	"DDHD2"	"MONDO:0014018"	"hereditary spastic paraplegia 54"	"OMIM:615033"	"Spastic paraplegia 54, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29106"	"DDHD2"	"OMIM:615033"	"hereditary spastic paraplegia 54"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-13 21:40:25"	""	""	"23176823, 23486545"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDHD20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_16110-OMIM_602557-HP_0000007-GENCC_100002"	"HGNC:16110"	"DDRGK1"	"MONDO:0011252"	"spondyloepimetaphyseal dysplasia, Shohat type"	"OMIM:602557"	"Spondyloepimetaphyseal dysplasia, Shohat type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16110"	"DDRGK1"	"OMIM:602557"	"spondyloepimetaphyseal dysplasia, Shohat type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 10:18:06"	""	""	"28263186, 35670300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDRGK10SEMDys"	"2023-11-30"
"GENCC_000106-HGNC_2745-OMIM_300958-HP_0001417-GENCC_100002"	"HGNC:2745"	"DDX3X"	"MONDO:0010497"	"intellectual disability, X-linked 102"	"OMIM:300958"	"Intellectual developmental disorder, X-linked syndromic, Snijders Blok type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2745"	"DDX3X"	"OMIM:300958"	"intellectual disability, X-linked 102"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:31:31"	""	""	"26235985"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDX3X0XLID"	"2023-11-30"
"GENCC_000106-HGNC_17211-OMIM_618220-HP_0000007-GENCC_100002"	"HGNC:17211"	"DHX38"	"MONDO:0032604"	"retinitis pigmentosa 84"	"OMIM:618220"	"Retinitis pigmentosa 84"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17211"	"DHX38"	"OMIM:618220"	"retinitis pigmentosa 84"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 20:28:30"	""	""	"24737827, 30208423, 30653986"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHX380RP"	"2023-11-30"
"GENCC_000106-HGNC_2896-OMIM_245348-HP_0000007-GENCC_100002"	"HGNC:2896"	"DLAT"	"MONDO:0009502"	"pyruvate dehydrogenase E2 deficiency"	"OMIM:245348"	"Pyruvate dehydrogenase E2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2896"	"DLAT"	"OMIM:245348"	"pyruvate dehydrogenase E2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:48"	""	""	"16049940, 20022530, 23021068, 29093066"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLAT0PDHC"	"2023-11-30"
"GENCC_000106-HGNC_2932-OMIM_241520-HP_0000007-GENCC_100002"	"HGNC:2932"	"DMP1"	"MONDO:0009430"	"hypophosphatemic rickets, autosomal recessive, 1"	"OMIM:241520"	"Hypophosphatemic rickets, AR"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2932"	"DMP1"	"OMIM:241520"	"hypophosphatemic rickets, autosomal recessive, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 20:40:01"	""	""	"12615915, 16294270, 17033621, 17033625, 18037646, 19007919, 20213538, 20422625, 25044680, 25180662, 27481510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DMP10HypophosRicket"	"2023-11-30"
"GENCC_000106-HGNC_20188-OMIM_612518-HP_0000007-GENCC_100002"	"HGNC:20188"	"DNAAF2"	"MONDO:0012918"	"primary ciliary dyskinesia 10"	"OMIM:612518"	"Ciliary dyskinesia, primary, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20188"	"DNAAF2"	"OMIM:612518"	"primary ciliary dyskinesia 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-03 10:24:15"	""	""	"19052621, 24498942"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAAF20PCD"	"2023-11-30"
"GENCC_000106-HGNC_30492-OMIM_606763-HP_0000007-GENCC_100002"	"HGNC:30492"	"DNAAF3"	"MONDO:0011718"	"primary ciliary dyskinesia 2"	"OMIM:606763"	"Ciliary dyskinesia, primary, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30492"	"DNAAF3"	"OMIM:606763"	"primary ciliary dyskinesia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"22387996, 31186518"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAAF30PCD"	"2023-11-30"
"GENCC_000106-HGNC_26013-OMIM_614874-HP_0000007-GENCC_100002"	"HGNC:26013"	"DNAAF5"	"MONDO:0013940"	"primary ciliary dyskinesia 18"	"OMIM:614874"	"Ciliary dyskinesia, primary, 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26013"	"DNAAF5"	"OMIM:614874"	"primary ciliary dyskinesia 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-29 10:06:47"	""	""	"24307375, 25232951"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAAF50PCD"	"2023-11-30"
"GENCC_000106-HGNC_2942-OMIM_611884-HP_0000007-GENCC_100002"	"HGNC:2942"	"DNAH11"	"MONDO:0012748"	"primary ciliary dyskinesia 7"	"OMIM:611884"	"Ciliary dyskinesia, primary, 7, with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2942"	"DNAH11"	"OMIM:611884"	"primary ciliary dyskinesia 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 15:52:34"	""	""	"18022865, 20513915, 22184204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAH110PCD"	"2023-11-30"
"GENCC_000106-HGNC_2950-OMIM_608644-HP_0000007-GENCC_100002"	"HGNC:2950"	"DNAH5"	"MONDO:0012085"	"primary ciliary dyskinesia 3"	"OMIM:608644"	"Ciliary dyskinesia, primary, 3, with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2950"	"DNAH5"	"OMIM:608644"	"primary ciliary dyskinesia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-02 19:51:54"	""	""	"11788826, 16627867"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAH50PCD"	"2023-11-30"
"GENCC_000106-HGNC_18744-OMIM_612444-HP_0000007-GENCC_100002"	"HGNC:18744"	"DNAI2"	"MONDO:0012906"	"primary ciliary dyskinesia 9"	"OMIM:612444"	"Ciliary dyskinesia, primary, 9, with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18744"	"DNAI2"	"OMIM:612444"	"primary ciliary dyskinesia 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-25 13:40:38"	""	""	"18950741, 23891469"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAI20PCD"	"2023-11-30"
"GENCC_000106-HGNC_30528-OMIM_610198-HP_0000007-GENCC_100002"	"HGNC:30528"	"DNAJC19"	"MONDO:0012435"	"3-methylglutaconic aciduria type 5"	"OMIM:610198"	"3-methylglutaconic aciduria, type V"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30528"	"DNAJC19"	"OMIM:610198"	"3-methylglutaconic aciduria type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-05-26 16:11:27"	""	""	"16055927, 180702483, 22797137, 23296368, 27928778, 29625556"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJC1903Methyl"	"2023-11-30"
"GENCC_000106-HGNC_16235-OMIM_162350-HP_0000006-GENCC_100002"	"HGNC:16235"	"DNAJC5"	"MONDO:0008083"	"ceroid lipofuscinosis, neuronal, 4 (Kufs type)"	"OMIM:162350"	"Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16235"	"DNAJC5"	"OMIM:162350"	"ceroid lipofuscinosis, neuronal, 4 (Kufs type)"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:05"	""	""	"21820099, 22902780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJC50CLN"	"2023-11-30"
"GENCC_000106-HGNC_15469-OMIM_615528-HP_0000007-GENCC_100002"	"HGNC:15469"	"DNAJC6"	"MONDO:0014231"	"juvenile onset Parkinson disease 19A"	"OMIM:615528"	"Parkinson disease 19b, early-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15469"	"DNAJC6"	"OMIM:615528"	"juvenile onset Parkinson disease 19A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:39:06"	""	""	"22563501, 23211418, 26528954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJC60Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_23247-OMIM_614017-HP_0000007-GENCC_100002"	"HGNC:23247"	"DNAL1"	"MONDO:0013525"	"primary ciliary dyskinesia 16"	"OMIM:614017"	"Ciliary dyskinesia, primary, 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23247"	"DNAL1"	"OMIM:614017"	"primary ciliary dyskinesia 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"1921462, 21496787, 30300419, 31213628, 36841509"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAL10PCD"	"2023-11-30"
"GENCC_000106-HGNC_2959-OMIM_614420-HP_0000007-GENCC_100002"	"HGNC:2959"	"DNASE1L3"	"MONDO:0013743"	"autosomal systemic lupus erythematosus type 16"	"OMIM:614420"	"Systemic lupus erythematosus 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2959"	"DNASE1L3"	"OMIM:614420"	"autosomal systemic lupus erythematosus type 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-07 18:08:19"	""	""	"22019780, 23666765, 24206041, 27821515, 30008451"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNASE1L30SystLupusEryth"	"2023-11-30"
"GENCC_000106-HGNC_30373-OMIM_618415-HP_0000007-GENCC_100002"	"HGNC:30373"	"DNMBP"	"MONDO:0032735"	"cataract 48"	"OMIM:618415"	"Cataract 48"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30373"	"DNMBP"	"OMIM:618415"	"cataract 48"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 13:36:43"	""	""	"30290152"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNMBP0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2988-OMIM_616433-HP_0000007-GENCC_100002"	"HGNC:2988"	"DOCK2"	"MONDO:0014637"	"DOCK2 deficiency"	"OMIM:616433"	"Immunodeficiency 40"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2988"	"DOCK2"	"OMIM:616433"	"DOCK2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 14:46:51"	""	""	"11518968, 26083206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DOCK20CID"	"2023-11-30"
"GENCC_000106-HGNC_19189-OMIM_614219-HP_0000007-GENCC_100002"	"HGNC:19189"	"DOCK6"	"MONDO:0013635"	"Adams-Oliver syndrome 2"	"OMIM:614219"	"Adams-Oliver syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19189"	"DOCK6"	"OMIM:614219"	"Adams-Oliver syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-25 19:34:11"	""	""	"21820096, 23522784, 25091416, 25824905"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DOCK60AdamsOliver"	"2023-11-30"
"GENCC_000106-HGNC_23406-OMIM_610768-HP_0000007-GENCC_100002"	"HGNC:23406"	"DOLK"	"MONDO:0012556"	"DK1-congenital disorder of glycosylation"	"OMIM:610768"	"Congenital disorder of glycosylation, type Im"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23406"	"DOLK"	"OMIM:610768"	"DK1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 15:49:35"	""	""	"17273964, 22242004, 23890587, 24144945, 28816422"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DOLK0DOLKCDG"	"2023-11-30"
"GENCC_000106-HGNC_9964-OMIM_618027-HP_0000006-GENCC_100002"	"HGNC:9964"	"DPF2"	"MONDO:0054831"	"Coffin-Siris syndrome 7"	"OMIM:618027"	"Coffin-Siris syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9964"	"DPF2"	"OMIM:618027"	"Coffin-Siris syndrome 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-06 14:23:37"	""	""	"29429572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPF20Coff"	"2023-11-30"
"GENCC_000106-HGNC_3005-OMIM_608799-HP_0000007-GENCC_100002"	"HGNC:3005"	"DPM1"	"MONDO:0012123"	"congenital disorder of glycosylation type 1E"	"OMIM:608799"	"Congenital disorder of glycosylation, type Ie"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3005"	"DPM1"	"OMIM:608799"	"congenital disorder of glycosylation type 1E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"10642597, 10642602, 16641202, 23856421"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPM10ADG"	"2023-11-30"
"GENCC_000106-HGNC_3006-OMIM_615042-HP_0000007-GENCC_100002"	"HGNC:3006"	"DPM2"	"MONDO:0014023"	"congenital muscular dystrophy with intellectual disability and severe epilepsy"	"OMIM:615042"	"Congenital disorder of glycosylation, type Iu"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3006"	"DPM2"	"OMIM:615042"	"congenital muscular dystrophy with intellectual disability and severe epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-12 16:46:06"	""	""	"23109149"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPM20DPM2CDG"	"2023-11-30"
"GENCC_000106-HGNC_19414-OMIM_613958-HP_0000007-GENCC_100002"	"HGNC:19414"	"DPY19L2"	"MONDO:0013505"	"spermatogenic failure 9"	"OMIM:613958"	"Spermatogenic failure 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19414"	"DPY19L2"	"OMIM:613958"	"spermatogenic failure 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-30 07:59:23"	""	""	"17008355, 21397063, 21397064, 22627659, 22653751, 25755131, 25780569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPY19L20SpermFail"	"2023-11-30"
"GENCC_000106-HGNC_28769-OMIM_616502-HP_0000007-GENCC_100002"	"HGNC:28769"	"DRAM2"	"MONDO:0014669"	"cone-rod dystrophy 21"	"OMIM:616502"	"Cone-rod dystrophy 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28769"	"DRAM2"	"OMIM:616502"	"cone-rod dystrophy 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:31:38"	""	""	"25983245, 26720460"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DRAM20ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_24245-OMIM_615294-HP_0000007-GENCC_100002"	"HGNC:24245"	"DRC1"	"MONDO:0014123"	"primary ciliary dyskinesia 21"	"OMIM:615294"	"Ciliary dyskinesia, primary, 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24245"	"DRC1"	"OMIM:615294"	"primary ciliary dyskinesia 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-30 20:28:05"	""	""	"23354437, 31270959, 31960620"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DRC10PCD"	"2023-11-30"
"GENCC_000106-HGNC_3037-OMIM_613102-HP_0000007-GENCC_100002"	"HGNC:3037"	"DSC3"	"MONDO:0013136"	"hereditary hypotrichosis with recurrent skin vesicles"	"OMIM:613102"	"Hypotrichosis and recurrent skin vesicles"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3037"	"DSC3"	"OMIM:613102"	"hereditary hypotrichosis with recurrent skin vesicles"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"19765682, 20159115, 604093"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSC30Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_21144-OMIM_615539-HP_0000007-GENCC_100002"	"HGNC:21144"	"DSE"	"MONDO:0014236"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"OMIM:615539"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21144"	"DSE"	"OMIM:615539"	"Ehlers-Danlos syndrome, musculocontractural type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 16:13:15"	""	""	"23704329, 25186462, 25703627, 28229453"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSE0EhlersDanlos"	"2023-11-30"
"GENCC_000106-HGNC_21307-OMIM_607903-HP_0000007-GENCC_100002"	"HGNC:21307"	"DSG4"	"MONDO:0011932"	"hypotrichosis 6"	"OMIM:607903"	"Hypotrichosis 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21307"	"DSG4"	"OMIM:607903"	"hypotrichosis 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-24 10:07:11"	""	""	"16439973, 16575393"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSG40Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_3084-OMIM_616331-HP_0000006-GENCC_100002"	"HGNC:3084"	"DVL1"	"MONDO:0014591"	"autosomal dominant Robinow syndrome 2"	"OMIM:616331"	"Robinow syndrome, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3084"	"DVL1"	"OMIM:616331"	"autosomal dominant Robinow syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:36:53"	""	""	"25817014, 25817016, 26924530, 9298901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DVL10Robinow"	"2023-11-30"
"GENCC_000106-HGNC_3087-OMIM_616894-HP_0000006-GENCC_100002"	"HGNC:3087"	"DVL3"	"MONDO:0014819"	"autosomal dominant Robinow syndrome 3"	"OMIM:616894"	"Robinow syndrome, autosomal dominant 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3087"	"DVL3"	"OMIM:616894"	"autosomal dominant Robinow syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:15"	""	""	"121302, 19008950, 20215527, 22892949, 24993822, 26924530, 29276006, 29575616"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DVL30DVL3rel"	"2023-11-30"
"GENCC_000106-HGNC_2964-OMIM_618492-HP_0000007-GENCC_100002"	"HGNC:2964"	"DYNC1I2"	"MONDO:0032779"	"neurodevelopmental disorder with microcephaly and structural brain anomalies"	"OMIM:618492"	"Neurodevelopmental disorder with microcephaly and structural brain anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2964"	"DYNC1I2"	"OMIM:618492"	"neurodevelopmental disorder with microcephaly and structural brain anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-16 08:34:33"	""	""	"31079899"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYNC1I20Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_29419-OMIM_614924-HP_0000007-GENCC_100002"	"HGNC:29419"	"EARS2"	"MONDO:0013971"	"leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"	"OMIM:614924"	"Combined oxidative phosphorylation deficiency 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29419"	"EARS2"	"OMIM:614924"	"leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-22 19:29:23"	""	""	"22492562, 23008233, 26893310, 31680123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EARS20OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_19087-OMIM_617330-HP_0000006-GENCC_100002"	"HGNC:19087"	"EBF3"	"MONDO:0015021"	"hypotonia, ataxia, and delayed development syndrome"	"OMIM:617330"	"Hypotonia, ataxia, and delayed development syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19087"	"EBF3"	"OMIM:617330"	"hypotonia, ataxia, and delayed development syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-26 15:30:17"	""	""	"28017370, 28017373"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EBF30Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_3147-OMIM_615065-HP_0000007-GENCC_100002"	"HGNC:3147"	"ECEL1"	"MONDO:0014028"	"distal arthrogryposis type 5D"	"OMIM:615065"	"Arthrogryposis, distal, type 5D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3147"	"ECEL1"	"OMIM:615065"	"distal arthrogryposis type 5D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 18:35:12"	""	""	"10400672, 20484637, 23236030, 23261301"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ECEL10Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_3153-OMIM_247100-HP_0000007-GENCC_100002"	"HGNC:3153"	"ECM1"	"MONDO:0009530"	"lipoid proteinosis"	"OMIM:247100"	"Urbach-Wiethe disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3153"	"ECM1"	"OMIM:247100"	"lipoid proteinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"11929856, 12603844, 17927570"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ECM10UBD"	"2023-11-30"
"GENCC_000106-HGNC_3188-OMIM_617561-HP_0000006-GENCC_100002"	"HGNC:3188"	"EED"	"MONDO:0060510"	"Cohen-Gibson syndrome"	"OMIM:617561"	"Cohen-Gibson syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3188"	"EED"	"OMIM:617561"	"Cohen-Gibson syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-22 01:54:26"	""	""	"25787343, 27193220, 28229514, 28475857, 29410511, 30005706, 37840385"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EED0WLOS"	"2023-11-30"
"GENCC_000106-HGNC_30858-OMIM_610536-HP_0000006-GENCC_100002"	"HGNC:30858"	"EFTUD2"	"MONDO:0012516"	"mandibulofacial dysostosis-microcephaly syndrome"	"OMIM:610536"	"Mandibulofacial dysostosis, Guion-Almeida type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30858"	"EFTUD2"	"OMIM:610536"	"mandibulofacial dysostosis-microcephaly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-28 19:26:00"	""	""	"23879989, 24470203, 24999515, 25865758, 26507355"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EFTUD20Mandibulo"	"2023-11-30"
"GENCC_000106-HGNC_21308-OMIM_615957-HP_0000006-GENCC_100002"	"HGNC:21308"	"ELOVL5"	"MONDO:0014417"	"spinocerebellar ataxia type 38"	"OMIM:615957"	"Spinocerebellar ataxia 38"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21308"	"ELOVL5"	"OMIM:615957"	"spinocerebellar ataxia type 38"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:16"	""	""	"18838740, 25065913, 27143115, 29482223, 31692161, 32314013"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELOVL50SCAR"	"2023-11-30"
"GENCC_000106-HGNC_3363-OMIM_615683-HP_0000007-GENCC_100002"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"OMIM:615683"	"Spastic paraplegia 64, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3363"	"ENTPD1"	"OMIM:615683"	"hereditary spastic paraplegia 64"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 22:00:42"	""	""	"24482476, 29691679"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ENTPD10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_28526-OMIM_615297-HP_0000007-GENCC_100002"	"HGNC:28526"	"EOGT"	"MONDO:0014124"	"Adams-Oliver syndrome 4"	"OMIM:615297"	"Adams-Oliver syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28526"	"EOGT"	"OMIM:615297"	"Adams-Oliver syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 14:06:31"	""	""	"23522784, 23860037, 25488668, 27077170, 29924900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EOGT0AdamsOliver"	"2023-11-30"
"GENCC_000106-HGNC_3377-OMIM_611804-HP_0000007-GENCC_100002"	"HGNC:3377"	"EPB41"	"MONDO:0012731"	"elliptocytosis 1"	"OMIM:611804"	"Elliptocytosis-1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3377"	"EPB41"	"OMIM:611804"	"elliptocytosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"21839655, 27551681, 27667160, 6894932, 7929842, 8423235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPB410Elliptoc03"	"2023-11-30"
"GENCC_000106-HGNC_3381-OMIM_612690-HP_0000007-GENCC_100002"	"HGNC:3381"	"EPB42"	"MONDO:0012985"	"hereditary spherocytosis type 5"	"OMIM:612690"	"Spherocytosis, type 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3381"	"EPB42"	"OMIM:612690"	"hereditary spherocytosis type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"10629586, 20179084, 7803799, 7819064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPB420Spherocytosis"	"2023-11-30"
"GENCC_000106-HGNC_3420-OMIM_615974-HP_0000007-GENCC_100002"	"HGNC:3420"	"EPS8"	"MONDO:0014428"	"autosomal recessive nonsyndromic hearing loss 102"	"OMIM:615974"	"?Deafness, autosomal recessive 102"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3420"	"EPS8"	"OMIM:615974"	"autosomal recessive nonsyndromic hearing loss 102"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-18 17:23:44"	""	""	"21526224, 24741995, 27344577"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPS80Deafness"	"2023-11-30"
"GENCC_000106-HGNC_1356-OMIM_611225-HP_0000007-GENCC_100002"	"HGNC:1356"	"ERLIN2"	"MONDO:0012639"	"hereditary spastic paraplegia 18"	"OMIM:611225"	"Spastic paraplegia 18B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1356"	"ERLIN2"	"OMIM:611225"	"hereditary spastic paraplegia 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-25 07:55:44"	""	""	"21330303, 23109145, 24482476, 27824013"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERLIN20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_3482-OMIM_231680-HP_0000007-GENCC_100002"	"HGNC:3482"	"ETFB"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"OMIM:231680"	"Glutaric acidemia IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3482"	"ETFB"	"OMIM:231680"	"multiple acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:08"	""	""	"12815589, 16510302, 17584774, 21347544, 231680, 23785301, 25200064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ETFB0GlutAciduria2"	"2023-11-30"
"GENCC_000106-HGNC_3483-OMIM_231680-HP_0000007-GENCC_100002"	"HGNC:3483"	"ETFDH"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"OMIM:231680"	"Glutaric acidemia IIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3483"	"ETFDH"	"OMIM:231680"	"multiple acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 19:19:10"	""	""	"12815589, 16510302, 17584774, 21347544, 231680, 23785301, 25200064, 27038534"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ETFDH0GlutAciduria2"	"2023-11-30"
"GENCC_000106-HGNC_21555-OMIM_602772-HP_0000007-GENCC_100002"	"HGNC:21555"	"EYS"	"MONDO:0011272"	"retinitis pigmentosa 25"	"OMIM:602772"	"Retinitis pigmentosa 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21555"	"EYS"	"OMIM:602772"	"retinitis pigmentosa 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-05 16:53:30"	""	""	"18836446, 18976725, 20333770, 23591405, 27375351, 28678594, 9585594"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EYS0RP"	"2023-11-30"
"GENCC_000106-HGNC_24587-OMIM_610532-HP_0000007-GENCC_100002"	"HGNC:24587"	"HYCC1"	"MONDO:0012514"	"hypomyelinating leukodystrophy 5"	"OMIM:610532"	"Leukodystrophy, hypomyelinating, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24587"	"HYCC1"	"OMIM:610532"	"hypomyelinating leukodystrophy 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 14:57:03"	""	""	"16951682, 17928815, 21911699, 22749724, 23998934"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM126A0HypomyelinCat"	"2023-11-30"
"GENCC_000106-HGNC_29162-OMIM_618763-HP_0000007-GENCC_100002"	"HGNC:29162"	"FAM149B1"	"MONDO:0032902"	"Joubert syndrome 36"	"OMIM:618763"	"Joubert syndrome 36"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29162"	"FAM149B1"	"OMIM:618763"	"Joubert syndrome 36"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-11 14:24:03"	""	""	"30905400"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM149B10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_25808-OMIM_606068-HP_0000007-GENCC_100002"	"HGNC:25808"	"FAM161A"	"MONDO:0011630"	"retinitis pigmentosa 28"	"OMIM:606068"	"Retinitis pigmentosa 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25808"	"FAM161A"	"OMIM:606068"	"retinitis pigmentosa 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-05 09:51:10"	""	""	"10507729, 20705278, 20705279, 24651477, 26574802"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM161A0RP"	"2023-11-30"
"GENCC_000106-HGNC_24797-OMIM_130900-HP_0000006-GENCC_100002"	"HGNC:24797"	"FAM83H"	"MONDO:0007538"	"amelogenesis imperfecta, type 3A"	"OMIM:130900"	"Amelogenesis imperfecta, type IIIA"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24797"	"FAM83H"	"OMIM:130900"	"amelogenesis imperfecta, type 3A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-11 04:06:13"	""	""	"18252228, 18484629, 187230, 19220331, 19407157, 21118793, 21597265, 22414746, 26788537, 30247735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM83H0AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_3583-OMIM_300514-HP_0001417-GENCC_100002"	"HGNC:3583"	"FANCB"	"MONDO:0010351"	"Fanconi anemia complementation group B"	"OMIM:300514"	"Fanconi anemia, complementation group B"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3583"	"FANCB"	"OMIM:300514"	"Fanconi anemia complementation group B"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:07"	""	""	"15502827, 23613520"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCB0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_3585-OMIM_227646-HP_0000007-GENCC_100002"	"HGNC:3585"	"FANCD2"	"MONDO:0009214"	"Fanconi anemia complementation group D2"	"OMIM:227646"	"Fanconi anemia, complementation group D2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3585"	"FANCD2"	"OMIM:227646"	"Fanconi anemia complementation group D2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"17436244"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCD20Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_25568-OMIM_609053-HP_0000007-GENCC_100002"	"HGNC:25568"	"FANCI"	"MONDO:0012186"	"Fanconi anemia complementation group I"	"OMIM:609053"	"Fanconi anemia, complementation group I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25568"	"FANCI"	"OMIM:609053"	"Fanconi anemia complementation group I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 19:56:07"	""	""	"17412408, 17452773, 17460694"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCI0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_29160-OMIM_618855-HP_0000007-GENCC_100002"	"HGNC:29160"	"FASTKD2"	"MONDO:0030020"	"combined oxidative phosphorylation deficiency 44"	"OMIM:618855"	"Combined oxidative phosphorylation deficiency 44"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29160"	"FASTKD2"	"OMIM:618855"	"combined oxidative phosphorylation deficiency 44"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-08 14:14:01"	""	""	"18771761, 25497598, 26370583"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FASTKD20MC4def"	"2023-11-30"
"GENCC_000106-HGNC_13601-OMIM_615471-HP_0000007-GENCC_100002"	"HGNC:13601"	"FBXL4"	"MONDO:0014198"	"mitochondrial DNA depletion syndrome 13"	"OMIM:615471"	"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13601"	"FBXL4"	"OMIM:615471"	"mitochondrial DNA depletion syndrome 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-24 13:41:27"	""	""	"23993193, 23993194, 25868664"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXL40MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_13586-OMIM_260300-HP_0000007-GENCC_100002"	"HGNC:13586"	"FBXO7"	"MONDO:0009830"	"parkinsonian-pyramidal syndrome"	"OMIM:260300"	"Parkinson disease 15, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13586"	"FBXO7"	"OMIM:260300"	"parkinsonian-pyramidal syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:53:13"	""	""	"19038853, 21347293, 25085748, 25169713, 25634434"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXO70Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_30546-OMIM_251900-HP_0000007-GENCC_100002"	"HGNC:30546"	"FDX2"	"MONDO:0020714"	"mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	"OMIM:251900"	"Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30546"	"FDX2"	"OMIM:251900"	"mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-14 18:55:13"	""	""	"24281368, 30010796, 37565517"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FDX20MitoMyopathy"	"2023-11-30"
"GENCC_000106-HGNC_3748-OMIM_146700-HP_0000006-GENCC_100002"	"HGNC:3748"	"FLG"	"MONDO:0007810"	"autosomal dominant ichthyosis vulgaris"	"OMIM:146700"	"Ichthyosis vulgaris"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3748"	"FLG"	"OMIM:146700"	"autosomal dominant ichthyosis vulgaris"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"16444271, 17417636, 22409988, 25997159"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLG0Ichthyos016"	"2023-11-30"
"GENCC_000106-HGNC_33276-OMIM_618084-HP_0000007-GENCC_100002"	"HGNC:33276"	"FLG2"	"MONDO:0054852"	"peeling skin syndrome 6"	"OMIM:618084"	"Peeling skin syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33276"	"FLG2"	"OMIM:618084"	"peeling skin syndrome 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:06"	""	""	"28884927, 29505760, 29758285"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLG20PSS6"	"2023-11-30"
"GENCC_000106-HGNC_20105-OMIM_225790-HP_0000007-GENCC_100002"	"HGNC:20105"	"FLVCR2"	"MONDO:0009168"	"Fowler syndrome"	"OMIM:225790"	"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20105"	"FLVCR2"	"OMIM:225790"	"Fowler syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-20 13:22:25"	""	""	"20206334, 20518025, 20690116"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLVCR20Prolifer"	"2023-11-30"
"GENCC_000106-HGNC_29007-OMIM_300983-HP_0001417-GENCC_100002"	"HGNC:29007"	"FRMPD4"	"MONDO:0010509"	"intellectual disability, X-linked 104"	"OMIM:300983"	"Intellectual developmental disorder, X-linked 104"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:29007"	"FRMPD4"	"OMIM:300983"	"intellectual disability, X-linked 104"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 19:07:39"	""	""	"16098137, 19118189, 22561452, 25644381, 27848944, 29267967"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FRMPD40XLID"	"2023-11-30"
"GENCC_000106-HGNC_13254-OMIM_309549-HP_0001417-GENCC_100002"	"HGNC:13254"	"FTSJ1"	"MONDO:0010660"	"intellectual disability, X-linked 9"	"OMIM:309549"	"Intellectual developmental disorder, X-linked 9"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:13254"	"FTSJ1"	"OMIM:309549"	"intellectual disability, X-linked 9"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"15162322, 15162332, 15342698, 18081026"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FTSJ10XLID"	"2023-11-30"
"GENCC_000106-HGNC_14673-OMIM_610019-HP_0000007-GENCC_100002"	"HGNC:14673"	"FYCO1"	"MONDO:0012395"	"cataract 18"	"OMIM:610019"	"Cataract 18, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14673"	"FYCO1"	"OMIM:610019"	"cataract 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 16:27:06"	""	""	"21636066, 22935719, 25148791"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FYCO10CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_4056-OMIM_232200-HP_0000007-GENCC_100002"	"HGNC:4056"	"G6PC1"	"MONDO:0009287"	"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"OMIM:232200"	"Glycogen storage disease Ia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4056"	"G6PC1"	"OMIM:232200"	"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-20 14:49:46"	""	""	"10612834, 25288127, 8182131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"G6PC0GSD"	"2023-11-30"
"GENCC_000106-HGNC_4057-OMIM_300908-HP_0001417-GENCC_100002"	"HGNC:4057"	"G6PD"	"MONDO:0010480"	"anemia, nonspherocytic hemolytic, due to G6PD deficiency"	"OMIM:300908"	"Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4057"	"G6PD"	"OMIM:300908"	"anemia, nonspherocytic hemolytic, due to G6PD deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:54:00"	""	""	"18177777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"G6PD0G6PDdef02"	"2023-11-30"
"GENCC_000106-HGNC_4082-OMIM_617829-HP_0000006-GENCC_100002"	"HGNC:4082"	"GABRB2"	"MONDO:0020631"	"developmental and epileptic encephalopathy 92"	"OMIM:617829"	"Developmental and epileptic encephalopathy 92"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4082"	"GABRB2"	"OMIM:617829"	"epileptic encephalopathy, infantile or early childhood, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-22 21:26:27"	""	""	"11331371, 25124326, 27622563, 27789573, 29100083, 32686847, 33325057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRB20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_24063-OMIM_618881-HP_0000007-GENCC_100002"	"HGNC:24063"	"GALM"	"MONDO:0030105"	"galactosemia 4"	"OMIM:618881"	"Galactosemia IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24063"	"GALM"	"OMIM:618881"	"galactosemia 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-08 07:31:41"	""	""	"30451973"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALM0Galactosemia"	"2023-11-30"
"GENCC_000106-HGNC_4125-OMIM_211900-HP_0000007-GENCC_100002"	"HGNC:4125"	"GALNT3"	"MONDO:0100252"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"OMIM:211900"	"Tumoral calcinosis, hyperphosphatemic, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4125"	"GALNT3"	"OMIM:211900"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-16 13:03:22"	""	""	"15133511, 16528452, 16940445, 17351710, 20358599, 21764190, 25232542, 25249269, 3839626, 8338191"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALNT30TumoralCalc"	"2023-11-30"
"GENCC_000106-HGNC_4166-OMIM_616726-HP_0000007-GENCC_100002"	"HGNC:4166"	"GAS8"	"MONDO:0014750"	"primary ciliary dyskinesia 33"	"OMIM:616726"	"Ciliary dyskinesia, primary, 33"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4166"	"GAS8"	"OMIM:616726"	"primary ciliary dyskinesia 33"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-25 13:41:59"	""	""	"19043402, 26387594, 27120127, 27472056"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GAS80PCD"	"2023-11-30"
"GENCC_000106-HGNC_18986-OMIM_614409-HP_0000007-GENCC_100002"	"HGNC:18986"	"GBA2"	"MONDO:0013737"	"hereditary spastic paraplegia 46"	"OMIM:614409"	"Spastic paraplegia 46, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18986"	"GBA2"	"OMIM:614409"	"hereditary spastic paraplegia 46"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-23 13:55:33"	""	""	"23332916, 23332917"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GBA20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_4266-OMIM_618157-HP_0000007-GENCC_100002"	"HGNC:4266"	"GHRHR"	"MONDO:0032567"	"isolated growth hormone deficiency, type 4"	"OMIM:618157"	"Growth hormone deficiency, isolated, type IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4266"	"GHRHR"	"OMIM:618157"	"isolated growth hormone deficiency, type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-29 18:31:16"	""	""	"11380500, 12444890, 16355809, 193754, 198430, 21816782, 23052699, 251444, 25541890, 8395283"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GHRHR0GHD"	"2023-11-30"
"GENCC_000106-HGNC_4277-OMIM_601885-HP_0000006-GENCC_100002"	"HGNC:4277"	"GJA3"	"MONDO:0011162"	"cataract 14 multiple types"	"OMIM:601885"	"Cataract 14, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4277"	"GJA3"	"OMIM:601885"	"cataract 14 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:20"	""	""	"10079508, 10205266, 15286166, 16885921, 16971895, 22843197, 22876138, 23302783, 23592915, 24019978, 25549162, 25635993, 9413992"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJA30CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_4335-OMIM_606762-HP_0000006-GENCC_100002"	"HGNC:4335"	"GLUD1"	"MONDO:0011717"	"hyperinsulinism-hyperammonemia syndrome"	"OMIM:606762"	"Hyperinsulinism-hyperammonemia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4335"	"GLUD1"	"OMIM:606762"	"hyperinsulinism-hyperammonemia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"11518822, 23345197, 9571255, 9843361"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLUD10HIHfamilial"	"2023-11-30"
"GENCC_000106-HGNC_4341-OMIM_610015-HP_0000007-GENCC_100002"	"HGNC:4341"	"GLUL"	"MONDO:0012393"	"congenital brain dysgenesis due to glutamine synthetase deficiency"	"OMIM:610015"	"Glutamine deficiency, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4341"	"GLUL"	"OMIM:610015"	"congenital brain dysgenesis due to glutamine synthetase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-07 18:00:47"	""	""	"16267323, 21353613, 25896882, 30440076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLUL0GlutDef"	"2023-11-30"
"GENCC_000106-HGNC_4367-OMIM_272750-HP_0000007-GENCC_100002"	"HGNC:4367"	"GM2A"	"MONDO:0010099"	"Tay-Sachs disease AB variant"	"OMIM:272750"	"GM2-gangliosidosis, AB variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4367"	"GM2A"	"OMIM:272750"	"Tay-Sachs disease AB variant"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"10364519, 24767253, 26082327, 8900233"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GM2A0GM2"	"2023-11-30"
"GENCC_000106-HGNC_22923-OMIM_615510-HP_0000007-GENCC_100002"	"HGNC:22923"	"GMPPA"	"MONDO:0014219"	"alacrima, achalasia, and intellectual disability syndrome"	"OMIM:615510"	"Alacrima, achalasia, and impaired intellectual development syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22923"	"GMPPA"	"OMIM:615510"	"alacrima, achalasia, and intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 10:04:54"	""	""	"24035193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GMPPA0Alacrima"	"2023-11-30"
"GENCC_000106-HGNC_4388-OMIM_615073-HP_0000006-GENCC_100002"	"HGNC:4388"	"GNAL"	"MONDO:0014033"	"dystonia 25"	"OMIM:615073"	"Dystonia 25"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4388"	"GNAL"	"OMIM:615073"	"dystonia 25"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 12:40:25"	""	""	"23222958, 23449625, 27123488"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAL0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_4394-OMIM_613856-HP_0000007-GENCC_100002"	"HGNC:4394"	"GNAT2"	"MONDO:0013465"	"achromatopsia 4"	"OMIM:613856"	"Achromatopsia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4394"	"GNAT2"	"OMIM:613856"	"achromatopsia 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-06-28 10:50:37"	""	""	"12077706, 21107338, 26196097, 29518352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAT20Achromatopsia"	"2023-11-30"
"GENCC_000106-HGNC_20731-OMIM_615185-HP_0000006-GENCC_100002"	"HGNC:20731"	"GNB4"	"MONDO:0014074"	"Charcot-Marie-Tooth disease dominant intermediate F"	"OMIM:615185"	"Charcot-Marie-Tooth disease, dominant intermediate F"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20731"	"GNB4"	"OMIM:615185"	"Charcot-Marie-Tooth disease dominant intermediate F"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:20"	""	""	"23434117, 27908631, 28642160"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNB40CMT"	"2023-11-30"
"GENCC_000106-HGNC_4422-OMIM_252940-HP_0000007-GENCC_100002"	"HGNC:4422"	"GNS"	"MONDO:0009658"	"mucopolysaccharidosis type 3D"	"OMIM:252940"	"Mucopolysaccharidosis type IIID"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4422"	"GNS"	"OMIM:252940"	"mucopolysaccharidosis type 3D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-16 14:38:34"	""	""	"20232353, 251476, 25851924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNS0MPS0III"	"2023-11-30"
"GENCC_000106-HGNC_4455-OMIM_614480-HP_0000007-GENCC_100002"	"HGNC:4455"	"GPD1"	"MONDO:0013771"	"transient infantile hypertriglyceridemia and hepatosteatosis"	"OMIM:614480"	"Hypertriglyceridemia, transient infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4455"	"GPD1"	"OMIM:614480"	"transient infantile hypertriglyceridemia and hepatosteatosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-11 13:47:23"	""	""	"22226083, 29940878"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPD10TransInfHypTri"	"2023-11-30"
"GENCC_000106-HGNC_4458-OMIM_613470-HP_0000007-GENCC_100002"	"HGNC:4458"	"GPI"	"MONDO:0013275"	"hemolytic anemia due to glucophosphate isomerase deficiency"	"OMIM:613470"	"Anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4458"	"GPI"	"OMIM:613470"	"hemolytic anemia due to glucophosphate isomerase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"10916680, 27519939, 8822952, 8822954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPI0GPIdef"	"2023-11-30"
"GENCC_000106-HGNC_24945-OMIM_615947-HP_0000007-GENCC_100002"	"HGNC:24945"	"GPIHBP1"	"MONDO:0014412"	"hyperlipoproteinemia, type 1D"	"OMIM:615947"	"Hyperlipoproteinemia, type 1D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24945"	"GPIHBP1"	"OMIM:615947"	"hyperlipoproteinemia, type 1D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:40:44"	""	""	"17403372, 20026666, 21816778, 22008945, 24793350, 25499947"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPIHBP10Chylomicronemia"	"2023-11-30"
"GENCC_000106-HGNC_31371-OMIM_614565-HP_0000007-GENCC_100002"	"HGNC:31371"	"GPR179"	"MONDO:0013807"	"congenital stationary night blindness 1E"	"OMIM:614565"	"Night blindness, congenital stationary (complete), 1E, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:31371"	"GPR179"	"OMIM:614565"	"congenital stationary night blindness 1E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"22325361, 22325362"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPR1790NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_25839-OMIM_606713-HP_0000006-GENCC_100002"	"HGNC:25839"	"GRHL3"	"MONDO:0011712"	"van der Woude syndrome 2"	"OMIM:606713"	"van der Woude syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25839"	"GRHL3"	"OMIM:606713"	"van der Woude syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-21 21:16:24"	""	""	"22590528, 22829784, 24360809, 28886269"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRHL30vanDerWoude"	"2023-11-30"
"GENCC_000106-HGNC_4570-OMIM_260000-HP_0000007-GENCC_100002"	"HGNC:4570"	"GRHPR"	"MONDO:0009824"	"primary hyperoxaluria type 2"	"OMIM:260000"	"Hyperoxaluria, primary, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4570"	"GRHPR"	"OMIM:260000"	"primary hyperoxaluria type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"11030416, 25644115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRHPR0Hyperoxaluria"	"2023-11-30"
"GENCC_000106-HGNC_4574-OMIM_617864-HP_0000006-GENCC_100002"	"HGNC:4574"	"GRIA4"	"MONDO:0060641"	"neurodevelopmental disorder with or without seizures and gait abnormalities"	"OMIM:617864"	"Neurodevelopmental disorder with or without seizures and gait abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4574"	"GRIA4"	"OMIM:617864"	"neurodevelopmental disorder with or without seizures and gait abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:21"	""	""	"29220673"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIA40Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_4598-OMIM_257270-HP_0000007-GENCC_100002"	"HGNC:4598"	"GRM6"	"MONDO:0009758"	"congenital stationary night blindness 1B"	"OMIM:257270"	"Night blindness, congenital stationary (complete), 1B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4598"	"GRM6"	"OMIM:257270"	"congenital stationary night blindness 1B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"15781871, 16622103, 22008250, 7889569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRM60NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_21157-OMIM_616395-HP_0000007-GENCC_100002"	"HGNC:21157"	"GTF2H5"	"MONDO:0014619"	"trichothiodystrophy 3, photosensitive"	"OMIM:616395"	"Trichothiodystrophy 3, photosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21157"	"GTF2H5"	"OMIM:616395"	"trichothiodystrophy 3, photosensitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-26 18:07:05"	""	""	"152202921, 15220921, 24986372, 26863999"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GTF2H50TTD"	"2023-11-30"
"GENCC_000106-HGNC_14880-OMIM_616198-HP_0000007-GENCC_100002"	"HGNC:14880"	"GTPBP3"	"MONDO:0014525"	"combined oxidative phosphorylation defect type 23"	"OMIM:616198"	"Combined oxidative phosphorylation deficiency 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14880"	"GTPBP3"	"OMIM:616198"	"combined oxidative phosphorylation defect type 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-11 13:38:40"	""	""	"25434004"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GTPBP30OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_4678-OMIM_602093-HP_0000006-GENCC_100002"	"HGNC:4678"	"GUCA1A"	"MONDO:0011193"	"cone dystrophy 3"	"OMIM:602093"	"Cone dystrophy-3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4678"	"GUCA1A"	"OMIM:602093"	"cone dystrophy 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 15:41:14"	""	""	"11146732, 20041177, 24024198, 24557353, 24778606, 28838317, 42141500, 9702199"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUCA1A0ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_4706-OMIM_611556-HP_0000007-GENCC_100002"	"HGNC:4706"	"GYS1"	"MONDO:0012693"	"glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"OMIM:611556"	"Glycogen storage disease 0, muscle"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4706"	"GYS1"	"OMIM:611556"	"glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"15282316, 16306363, 17928598, 19699667, 21958591, 26402642"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GYS10GSD"	"2023-11-30"
"GENCC_000106-HGNC_4707-OMIM_240600-HP_0000007-GENCC_100002"	"HGNC:4707"	"GYS2"	"MONDO:0009414"	"glycogen storage disorder due to hepatic glycogen synthase deficiency"	"OMIM:240600"	"Glycogen storage disease 0, liver"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4707"	"GYS2"	"OMIM:240600"	"glycogen storage disorder due to hepatic glycogen synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-24 00:25:36"	""	""	"11483824, 12794686, 20051115, 21032403, 26937415, 8831078, 9691087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GYS20GSD"	"2023-11-30"
"GENCC_000106-HGNC_15808-OMIM_617662-HP_0000007-GENCC_100002"	"HGNC:15808"	"GZF1"	"MONDO:0060556"	"joint laxity, short stature, and myopia"	"OMIM:617662"	"Joint laxity, short stature, and myopia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15808"	"GZF1"	"OMIM:617662"	"joint laxity, short stature, and myopia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-05 12:40:29"	""	""	"28475863"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GZF10LarsenSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_21033-OMIM_616756-HP_0000007-GENCC_100002"	"HGNC:21033"	"HACE1"	"MONDO:0014764"	"spastic paraplegia-severe developmental delay-epilepsy syndrome"	"OMIM:616756"	"Spastic paraplegia and psychomotor retardation with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21033"	"HACE1"	"OMIM:616756"	"spastic paraplegia-severe developmental delay-epilepsy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-06 15:32:17"	""	""	"26424145, 26437029, 31321300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HACE10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_15598-OMIM_613313-HP_0000007-GENCC_100002"	"HGNC:15598"	"HAMP"	"MONDO:0013220"	"hemochromatosis type 2B"	"OMIM:613313"	"Hemochromatosis, type 2B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15598"	"HAMP"	"OMIM:613313"	"hemochromatosis type 2B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-07 08:56:53"	""	""	"11447267, 11930010, 12469120, 15099344, 15198949, 15514116, 19342478, 20301349"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HAMP0HH"	"2023-11-30"
"GENCC_000106-HGNC_16915-OMIM_610738-HP_0000007-GENCC_100002"	"HGNC:16915"	"HAX1"	"MONDO:0012548"	"Kostmann syndrome"	"OMIM:610738"	"Neutropenia, severe congenital 3, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16915"	"HAX1"	"OMIM:610738"	"Kostmann syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:01:07"	""	""	"17187068, 19036076, 19775295, 20128427, 20402072, 24341138, 24482108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HAX10Neutropenia"	"2023-11-30"
"GENCC_000106-HGNC_29853-OMIM_617268-HP_0000006-GENCC_100002"	"HGNC:29853"	"HECW2"	"MONDO:0014995"	"neurodevelopmental disorder with hypotonia, seizures, and absent language"	"OMIM:617268"	"Neurodevelopmental disorder with hypotonia, seizures, and absent language"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29853"	"HECW2"	"OMIM:617268"	"neurodevelopmental disorder with hypotonia, seizures, and absent language"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-07 20:34:06"	""	""	"27389779, 28135719"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HECW20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_4861-OMIM_616911-HP_0000007-GENCC_100002"	"HGNC:4861"	"HELLS"	"MONDO:0014829"	"immunodeficiency-centromeric instability-facial anomalies syndrome 4"	"OMIM:616911"	"Immunodeficiency-centromeric instability-facial anomalies syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4861"	"HELLS"	"OMIM:616911"	"immunodeficiency-centromeric instability-facial anomalies syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-15 10:54:52"	""	""	"26216346, 26851945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HELLS0ImmCentInstFac"	"2023-11-30"
"GENCC_000106-HGNC_15977-OMIM_613686-HP_0000007-GENCC_100002"	"HGNC:15977"	"HES7"	"MONDO:0013366"	"spondylocostal dysostosis 4, autosomal recessive"	"OMIM:613686"	"Spondylocostal dysostosis 4, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15977"	"HES7"	"OMIM:613686"	"spondylocostal dysostosis 4, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-09 10:11:01"	""	""	"11641270, 18775957, 20087400, 23897666, 29459493"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HES70Spondylocostal"	"2023-11-30"
"GENCC_000106-HGNC_4912-OMIM_137200-HP_0000007-GENCC_100002"	"HGNC:4912"	"HINT1"	"MONDO:0007646"	"Gamstorp-Wohlfart syndrome"	"OMIM:137200"	"Neuromyotonia and axonal neuropathy, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4912"	"HINT1"	"OMIM:137200"	"Gamstorp-Wohlfart syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-18 06:40:06"	""	""	"22961002, 24105373, 25342199, 26059562, 2961002"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HINT10HMN"	"2023-11-30"
"GENCC_000106-HGNC_5033-OMIM_615422-HP_0000006-GENCC_100002"	"HGNC:5033"	"HNRNPA2B1"	"MONDO:0014178"	"inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2"	"OMIM:615422"	"?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5033"	"HNRNPA2B1"	"OMIM:615422"	"inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-22 13:54:29"	""	""	"22091729, 23455423, 23635965, 24612671, 25617006, 27773581, 28389692, 29358076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPA2B10IBMPFD"	"2023-11-30"
"GENCC_000106-HGNC_5037-OMIM_609115-HP_0000006-GENCC_100002"	"HGNC:5037"	"HNRNPDL"	"MONDO:0012193"	"autosomal dominant limb-girdle muscular dystrophy type 1G"	"OMIM:609115"	"Muscular dystrophy, limb-girdle, autosomal dominant 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5037"	"HNRNPDL"	"OMIM:609115"	"autosomal dominant limb-girdle muscular dystrophy type 1G"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"24647604, 30604053"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPDL0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_5111-OMIM_614744-HP_0000007-GENCC_100002"	"HGNC:5111"	"HOXB1"	"MONDO:0013880"	"facial paresis, hereditary congenital, 3"	"OMIM:614744"	"Facial paresis, hereditary congenital, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5111"	"HOXB1"	"OMIM:614744"	"facial paresis, hereditary congenital, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22770981, 26007620, 27144914, 27640920, 8898234, 8967950"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXB10FacialParesis"	"2023-11-30"
"GENCC_000106-HGNC_5112-OMIM_610997-HP_0000006-GENCC_100002"	"HGNC:5112"	"HOXB13"	"MONDO:0012597"	"prostate cancer, hereditary, 9"	"OMIM:610997"	"{Prostate cancer, hereditary, 9}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5112"	"HOXB13"	"OMIM:610997"	"prostate cancer, hereditary, 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 09:19:35"	""	""	"22236224, 22841674, 23064873, 23292082, 23396964, 23457453, 23518396, 24026887, 25595936, 25629170, 26108461, 26517352, 30527799, 30730552, 31629417, 32830201, 34799695, 35031163, 35534218"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXB130HOXB13relCanc"	"2023-11-30"
"GENCC_000106-HGNC_5125-OMIM_614931-HP_0000007-GENCC_100002"	"HGNC:5125"	"HOXC13"	"MONDO:0013976"	"ectodermal dysplasia 9, hair/nail type"	"OMIM:614931"	"Ectodermal dysplasia 9, hair/nail type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5125"	"HOXC13"	"OMIM:614931"	"ectodermal dysplasia 9, hair/nail type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"23063621, 23315978, 23461661, 9420327"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXC130Ectoderm"	"2023-11-30"
"GENCC_000106-HGNC_5144-OMIM_224500-HP_0000007-GENCC_100002"	"HGNC:5144"	"HPCA"	"MONDO:0009141"	"torsion dystonia 2"	"OMIM:224500"	"Dystonia 2, torsion, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5144"	"HPCA"	"OMIM:224500"	"torsion dystonia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"25799108, 28398555, 30145809"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPCA0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_17022-OMIM_614074-HP_0000007-GENCC_100002"	"HGNC:17022"	"HPS5"	"MONDO:0013557"	"Hermansky-Pudlak syndrome 5"	"OMIM:614074"	"Hermansky-Pudlak syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17022"	"HPS5"	"OMIM:614074"	"Hermansky-Pudlak syndrome 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"12548288, 15296495, 21833017, 26785811"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPST5"	"2023-11-30"
"GENCC_000106-HGNC_5212-OMIM_264300-HP_0000007-GENCC_100002"	"HGNC:5212"	"HSD17B3"	"MONDO:0009916"	"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"	"OMIM:264300"	"Pseudohermaphroditism, male, with gynecomastia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5212"	"HSD17B3"	"OMIM:264300"	"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 22:00:41"	""	""	"23796702, 25740850, 27163392, 28847746, 8075637, 8626842"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSD17B30Pseudohe"	"2023-11-30"
"GENCC_000106-HGNC_5218-OMIM_201810-HP_0000007-GENCC_100002"	"HGNC:5218"	"HSD3B2"	"MONDO:0008727"	"congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"	"OMIM:201810"	"Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5218"	"HSD3B2"	"OMIM:201810"	"congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 16:55:09"	""	""	"11196452, 27899157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSD3B20CAHyper"	"2023-11-30"
"GENCC_000106-HGNC_19368-OMIM_608647-HP_0000007-GENCC_100002"	"HGNC:19368"	"HYDIN"	"MONDO:0012088"	"primary ciliary dyskinesia 5"	"OMIM:608647"	"Ciliary dyskinesia, primary, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19368"	"HYDIN"	"OMIM:608647"	"primary ciliary dyskinesia 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-31 11:32:08"	""	""	"23022101, 27637300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HYDIN0PCD"	"2023-11-30"
"GENCC_000106-HGNC_5383-OMIM_613657-HP_0000006-GENCC_100002"	"HGNC:5383"	"IDH2"	"MONDO:0013345"	"d-2-hydroxyglutaric aciduria 2"	"OMIM:613657"	"D-2-hydroxyglutaric aciduria 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5383"	"IDH2"	"OMIM:613657"	"d-2-hydroxyglutaric aciduria 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-04 16:38:54"	""	""	"20847235, 21889589, 22391998"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IDH20D2Hydroxy"	"2023-11-30"
"GENCC_000106-HGNC_16644-OMIM_610967-HP_0000006-GENCC_100002"	"HGNC:16644"	"IFITM5"	"MONDO:0012591"	"osteogenesis imperfecta type 5"	"OMIM:610967"	"Osteogenesis imperfecta, type V"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16644"	"IFITM5"	"OMIM:610967"	"osteogenesis imperfecta type 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:53:38"	""	""	"22863190, 22863195, 23240094, 23408678, 23674381, 23977282, 24293101, 24478195, 24519609, 24674092, 25251575, 27509835, 28880886, 29459627, 29595812, 30289614, 32383316, 34156493, 34567078"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFITM50OI"	"2023-11-30"
"GENCC_000106-HGNC_5466-OMIM_616489-HP_0000006-GENCC_100002"	"HGNC:5466"	"IGF2"	"MONDO:0014663"	"Silver-Russell syndrome 3"	"OMIM:616489"	"Silver-Russell syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5466"	"IGF2"	"OMIM:616489"	"Silver-Russell syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:13"	""	""	"1997210, 26154720, 28489339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGF20SilRussSyn"	"2023-11-30"
"GENCC_000106-HGNC_5468-OMIM_615961-HP_0000007-GENCC_100002"	"HGNC:5468"	"IGFALS"	"MONDO:0014420"	"short stature due to primary acid-labile subunit deficiency"	"OMIM:615961"	"Acid-labile subunit, deficiency of"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5468"	"IGFALS"	"OMIM:615961"	"short stature due to primary acid-labile subunit deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 23:20:33"	""	""	"14762184, 18303074, 18463107, 20389102, 20591980, 28249955, 28445628, 31419723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGFALS0Acid-Lab"	"2023-11-30"
"GENCC_000106-HGNC_5961-OMIM_308300-HP_0001417-GENCC_100002"	"HGNC:5961"	"IKBKG"	"MONDO:0010631"	"incontinentia pigmenti"	"OMIM:308300"	"Incontinentia pigmenti"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:5961"	"IKBKG"	"OMIM:308300"	"incontinentia pigmenti"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 13:32:53"	""	""	"10839543, 11047757, 11179023, 11242109, 11590134, 12045264, 15229184, 16532398, 16818673, 16950813, 18350553, 24339369"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IKBKG0IKBKGrel"	"2023-11-30"
"GENCC_000106-HGNC_5965-OMIM_612567-HP_0000007-GENCC_100002"	"HGNC:5965"	"IL10RB"	"MONDO:0012941"	"inflammatory bowel disease 25"	"OMIM:612567"	"Inflammatory bowel disease 25, early onset, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5965"	"IL10RB"	"OMIM:612567"	"inflammatory bowel disease 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-22 13:57:42"	""	""	"19890111, 21519361, 22549091, 23158016, 25058236, 25373860, 9463407"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL10RB0IBD"	"2023-11-30"
"GENCC_000106-HGNC_5967-OMIM_614188-HP_0000007-GENCC_100002"	"HGNC:5967"	"IL11RA"	"MONDO:0013615"	"craniosynostosis and dental anomalies"	"OMIM:614188"	"Craniosynostosis and dental anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5967"	"IL11RA"	"OMIM:614188"	"craniosynostosis and dental anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 09:44:21"	""	""	"21741611, 24498618"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL11RA0Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_15561-OMIM_614204-HP_0000007-GENCC_100002"	"HGNC:15561"	"IL36RN"	"MONDO:0013626"	"psoriasis 14, pustular"	"OMIM:614204"	"Psoriasis 14, pustular"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15561"	"IL36RN"	"OMIM:614204"	"psoriasis 14, pustular"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 07:42:20"	""	""	"21848462, 22428995, 23648549, 23698098, 25409173, 25438000, 25848350, 26215033"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL36RN0Psoriasis"	"2023-11-30"
"GENCC_000106-HGNC_6024-OMIM_608971-HP_0000007-GENCC_100002"	"HGNC:6024"	"IL7R"	"MONDO:0012163"	"immunodeficiency 104"	"OMIM:608971"	"Immunodeficiency 104, severe combined"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6024"	"IL7R"	"OMIM:608971"	"immunodeficiency 104"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-29 09:11:39"	""	""	"11023514, 15615257, 21625022, 21664875, 21883749, 26123418, 9068311, 9843216"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL7R0SCID"	"2023-11-30"
"GENCC_000106-HGNC_28660-OMIM_617613-HP_0000007-GENCC_100002"	"HGNC:28660"	"ISCA1"	"MONDO:0033282"	"multiple mitochondrial dysfunctions syndrome 5"	"OMIM:617613"	"Multiple mitochondrial dysfunctions syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28660"	"ISCA1"	"OMIM:617613"	"multiple mitochondrial dysfunctions syndrome 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"25539947, 28356563, 29767723, 30105122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ISCA10MMdys"	"2023-11-30"
"GENCC_000106-HGNC_19857-OMIM_616370-HP_0000007-GENCC_100002"	"HGNC:19857"	"ISCA2"	"MONDO:0014611"	"multiple mitochondrial dysfunctions syndrome 4"	"OMIM:616370"	"Multiple mitochondrial dysfunctions syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19857"	"ISCA2"	"OMIM:616370"	"multiple mitochondrial dysfunctions syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-02 14:42:15"	""	""	"22323289, 25539947, 25558065, 29297947, 29359243"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ISCA20MMdys"	"2023-11-30"
"GENCC_000106-HGNC_29882-OMIM_255125-HP_0000007-GENCC_100002"	"HGNC:29882"	"ISCU"	"MONDO:0009706"	"hereditary myopathy with lactic acidosis due to ISCU deficiency"	"OMIM:255125"	"Myopathy with lactic acidosis, hereditary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29882"	"ISCU"	"OMIM:255125"	"hereditary myopathy with lactic acidosis due to ISCU deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:41:23"	""	""	"18296749, 18304497, 19567699, 20206689, 7616539"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ISCU0MyopLactic"	"2023-11-30"
"GENCC_000106-HGNC_21071-OMIM_274800-HP_0000007-GENCC_100002"	"HGNC:21071"	"IYD"	"MONDO:0010136"	"thyroid dyshormonogenesis 4"	"OMIM:274800"	"Thyroid dyshormonogenesis 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21071"	"IYD"	"OMIM:274800"	"thyroid dyshormonogenesis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 17:43:34"	""	""	"18434651, 18765512, 36633921"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IYD0ThyroidDyshorm"	"2023-11-30"
"GENCC_000106-HGNC_26926-OMIM_616022-HP_0000007-GENCC_100002"	"HGNC:26926"	"JAGN1"	"MONDO:0014456"	"autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"	"OMIM:616022"	"Neutropenia, severe congenital, 6, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26926"	"JAGN1"	"OMIM:616022"	"autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 00:50:08"	""	""	"25129144, 25129145, 25851723, 32888943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAGN10Neutropenia"	"2023-11-30"
"GENCC_000106-HGNC_15532-OMIM_613730-HP_0000007-GENCC_100002"	"HGNC:15532"	"JAM3"	"MONDO:0013394"	"porencephaly-microcephaly-bilateral congenital cataract syndrome"	"OMIM:613730"	"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15532"	"JAM3"	"OMIM:613730"	"porencephaly-microcephaly-bilateral congenital cataract syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-23 20:32:56"	""	""	"1933825, 21109224, 23255084"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAM30HDBSCC"	"2023-11-30"
"GENCC_000106-HGNC_6217-OMIM_616212-HP_0000007-GENCC_100002"	"HGNC:6217"	"KATNB1"	"MONDO:0014534"	"lissencephaly 6 with microcephaly"	"OMIM:616212"	"Lissencephaly 6, with microcephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6217"	"KATNB1"	"OMIM:616212"	"lissencephaly 6 with microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"25521378, 25521379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KATNB10Lissence"	"2023-11-30"
"GENCC_000106-HGNC_6235-OMIM_605259-HP_0000006-GENCC_100002"	"HGNC:6235"	"KCNC3"	"MONDO:0011529"	"spinocerebellar ataxia type 13"	"OMIM:605259"	"Spinocerebellar ataxia 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6235"	"KCNC3"	"OMIM:605259"	"spinocerebellar ataxia type 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:28:38"	""	""	"16501573, 18592334, 19953606, 20712895, 21479265, 22289912, 25981959"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNC30SCAR"	"2023-11-30"
"GENCC_000106-HGNC_6255-OMIM_241200-HP_0000007-GENCC_100002"	"HGNC:6255"	"KCNJ1"	"MONDO:0009424"	"Bartter disease type 2"	"OMIM:241200"	"Bartter syndrome, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6255"	"KCNJ1"	"OMIM:241200"	"Bartter disease type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-04 13:39:34"	""	""	"11893344, 12122007, 19096086, 21865213, 28979772"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ10Bartter"	"2023-11-30"
"GENCC_000106-HGNC_19698-OMIM_610356-HP_0000007-GENCC_100002"	"HGNC:19698"	"KCNV2"	"MONDO:0012475"	"cone dystrophy with supernormal rod response"	"OMIM:610356"	"Retinal cone dystrophy 3B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19698"	"KCNV2"	"OMIM:610356"	"cone dystrophy with supernormal rod response"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-04 16:41:41"	""	""	"16909397, 18235024, 21882291, 23115240, 23221069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNV20RetConeDys"	"2023-11-30"
"GENCC_000106-HGNC_25705-OMIM_616398-HP_0000006-GENCC_100002"	"HGNC:25705"	"KCTD17"	"MONDO:0014620"	"myoclonic dystonia 26"	"OMIM:616398"	"Dystonia 26, myoclonic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25705"	"KCTD17"	"OMIM:616398"	"myoclonic dystonia 26"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 10:33:36"	""	""	"25983243, 30579817, 30642807"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCTD170Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_12637-OMIM_300867-HP_0001417-GENCC_100002"	"HGNC:12637"	"KDM6A"	"MONDO:0010465"	"Kabuki syndrome 2"	"OMIM:300867"	"Kabuki syndrome 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12637"	"KDM6A"	"OMIM:300867"	"Kabuki syndrome 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 03:05:33"	""	""	"18434530, 22197486, 23076834, 23913813, 27302555"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDM6A0Kabuki"	"2023-11-30"
"GENCC_000106-HGNC_6309-OMIM_217300-HP_0000007-GENCC_100002"	"HGNC:6309"	"KERA"	"MONDO:0009014"	"cornea plana 2"	"OMIM:217300"	"Cornea plana 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6309"	"KERA"	"OMIM:217300"	"cornea plana 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"10802664, 16234475, 25967529, 31059048, 9591953"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KERA0CorneaPlana"	"2023-11-30"
"GENCC_000106-HGNC_6317-OMIM_611302-HP_0000007-GENCC_100002"	"HGNC:6317"	"KIF1C"	"MONDO:0012651"	"spastic ataxia 2"	"OMIM:611302"	"Spastic ataxia 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6317"	"KIF1C"	"OMIM:611302"	"spastic ataxia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"24319291, 24482476"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF1C0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_6391-OMIM_603546-HP_0000006-GENCC_100002"	"HGNC:6391"	"KIF22"	"MONDO:0011335"	"spondyloepimetaphyseal dysplasia with multiple dislocations"	"OMIM:603546"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6391"	"KIF22"	"OMIM:603546"	"spondyloepimetaphyseal dysplasia with multiple dislocations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 06:30:41"	""	""	"22152677, 22152678, 25256152"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF220SEMD"	"2023-11-30"
"GENCC_000106-HGNC_15865-OMIM_615780-HP_0000007-GENCC_100002"	"HGNC:15865"	"KIZ"	"MONDO:0014345"	"retinitis pigmentosa 69"	"OMIM:615780"	"Retinitis pigmentosa 69"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15865"	"KIZ"	"OMIM:615780"	"retinitis pigmentosa 69"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 10:14:26"	""	""	"18423593, 24680887, 26835369, 28837078, 29057815, 32052671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIZ0RP"	"2023-11-30"
"GENCC_000106-HGNC_16905-OMIM_615731-HP_0000007-GENCC_100002"	"HGNC:16905"	"KLHL41"	"MONDO:0014326"	"nemaline myopathy 9"	"OMIM:615731"	"Nemaline myopathy 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16905"	"KLHL41"	"OMIM:615731"	"nemaline myopathy 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:27:11"	""	""	"24268659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHL410NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_6365-OMIM_204700-HP_0000007-GENCC_100002"	"HGNC:6365"	"KLK4"	"MONDO:0008772"	"amelogenesis imperfecta type 2A1"	"OMIM:204700"	"Amelogenesis imperfecta, type IIA1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6365"	"KLK4"	"OMIM:204700"	"amelogenesis imperfecta type 2A1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:58"	""	""	"15235027, 19578120, 21597265, 23355523, 26124219"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLK40AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_6383-OMIM_228960-HP_0000007-GENCC_100002"	"HGNC:6383"	"KNG1"	"MONDO:0009234"	"congenital high-molecular-weight kininogen deficiency"	"OMIM:228960"	"[High molecular weight kininogen deficiency]"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6383"	"KNG1"	"OMIM:228960"	"congenital high-molecular-weight kininogen deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-04 12:07:26"	""	""	"10071463, 12576314, 17522339, 7901207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KNG10KD"	"2023-11-30"
"GENCC_000106-HGNC_17550-OMIM_617392-HP_0000007-GENCC_100002"	"HGNC:17550"	"KREMEN1"	"MONDO:0044305"	"ectodermal dysplasia 13, hair/tooth type"	"OMIM:617392"	"Ectodermal dysplasia 13, hair/tooth type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17550"	"KREMEN1"	"OMIM:617392"	"ectodermal dysplasia 13, hair/tooth type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"17162372, 249534, 27049303, 29526031"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KREMEN10EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_30839-OMIM_616760-HP_0000007-GENCC_100002"	"HGNC:30839"	"KRT25"	"MONDO:0014765"	"wooly hair, autosomal recessive 3"	"OMIM:616760"	"Woolly hair, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30839"	"KRT25"	"OMIM:616760"	"wooly hair, autosomal recessive 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"17920809, 26160856, 26902920"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT250WoollyHa"	"2023-11-30"
"GENCC_000106-HGNC_6443-OMIM_615726-HP_0000006-GENCC_100002"	"HGNC:6443"	"KRT6A"	"MONDO:0014324"	"pachyonychia congenita 3"	"OMIM:615726"	"Pachyonychia congenita 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6443"	"KRT6A"	"OMIM:615726"	"pachyonychia congenita 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:10:22"	""	""	"10953016, 16250206, 17914454, 21326300, 24611874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT6A0Pachyony"	"2023-11-30"
"GENCC_000106-HGNC_6444-OMIM_615728-HP_0000006-GENCC_100002"	"HGNC:6444"	"KRT6B"	"MONDO:0014325"	"pachyonychia congenita 4"	"OMIM:615728"	"Pachyonychia congenita 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6444"	"KRT6B"	"OMIM:615728"	"pachyonychia congenita 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"16250206, 24611874, 9618173"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT6B0Pachyony"	"2023-11-30"
"GENCC_000106-HGNC_20406-OMIM_615735-HP_0000006-GENCC_100002"	"HGNC:20406"	"KRT6C"	"MONDO:0014327"	"palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"OMIM:615735"	"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20406"	"KRT6C"	"OMIM:615735"	"palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"19609311, 21801157, 23662636, 26301947, 31823354"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT6C0Palmopla"	"2023-11-30"
"GENCC_000106-HGNC_26789-OMIM_618795-HP_0000007-GENCC_100002"	"HGNC:26789"	"LACC1"	"MONDO:0032920"	"juvenile arthritis due to defect in LACC1"	"OMIM:618795"	"Juvenile arthritis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26789"	"LACC1"	"OMIM:618795"	"juvenile arthritis due to defect in LACC1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-18 12:56:49"	""	""	"25220867, 27478939, 27881174, 30872671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LACC10JuvIdoArth"	"2023-11-30"
"GENCC_000106-HGNC_26058-OMIM_301006-HP_0001417-GENCC_100002"	"HGNC:26058"	"LAGE3"	"MONDO:0033006"	"Galloway-Mowat syndrome 2, X-linked"	"OMIM:301006"	"Galloway-Mowat syndrome 2, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:26058"	"LAGE3"	"OMIM:301006"	"Galloway-Mowat syndrome 2, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:15"	""	""	"22805828, 28805828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAGE30Galloway"	"2023-11-30"
"GENCC_000106-HGNC_31923-OMIM_604537-HP_0000007-GENCC_100002"	"HGNC:31923"	"LCA5"	"MONDO:0011473"	"Leber congenital amaurosis 5"	"OMIM:604537"	"Leber congenital amaurosis 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:31923"	"LCA5"	"OMIM:604537"	"Leber congenital amaurosis 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 17:52:47"	""	""	"17546029, 21606596, 23946133, 24144451"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LCA50Leber"	"2023-11-30"
"GENCC_000106-HGNC_6530-OMIM_223000-HP_0000007-GENCC_100002"	"HGNC:6530"	"LCT"	"MONDO:0009115"	"congenital lactase deficiency"	"OMIM:223000"	"Lactase deficiency, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6530"	"LCT"	"OMIM:223000"	"congenital lactase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"16400612, 25881162, 26215149, 6847226, 9758622"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LCT0LactaseDef"	"2023-11-30"
"GENCC_000106-HGNC_6535-OMIM_612933-HP_0000007-GENCC_100002"	"HGNC:6535"	"LDHA"	"MONDO:0013047"	"glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"	"OMIM:612933"	"Glycogen storage disease XI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6535"	"LDHA"	"OMIM:612933"	"glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-31 07:58:08"	""	""	"1959923, 2334430, 7603529, 7944300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LDHA0GSD"	"2023-11-30"
"GENCC_000106-HGNC_18640-OMIM_603813-HP_0000007-GENCC_100002"	"HGNC:18640"	"LDLRAP1"	"MONDO:0011374"	"hypercholesterolemia, familial, 4"	"OMIM:603813"	"Hypercholesterolemia, familial, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18640"	"LDLRAP1"	"OMIM:603813"	"hypercholesterolemia, familial, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"11326085, 12464675, 23776352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LDLRAP10FamHypercholest"	"2023-11-30"
"GENCC_000106-HGNC_6584-OMIM_228300-HP_0000007-GENCC_100002"	"HGNC:6584"	"LHB"	"MONDO:0009223"	"hypogonadotropic hypogonadism 23 with or without anosmia"	"OMIM:228300"	"Hypogonadotropic hypogonadism 23 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6584"	"LHB"	"OMIM:228300"	"hypogonadotropic hypogonadism 23 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 14:24:18"	""	""	"15569941, 1727547, 17761593, 22723313, 27656125, 29476300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LHB0IHH"	"2023-11-30"
"GENCC_000106-HGNC_6595-OMIM_221750-HP_0000007-GENCC_100002"	"HGNC:6595"	"LHX3"	"MONDO:0009091"	"non-acquired combined pituitary hormone deficiency with spine abnormalities"	"OMIM:221750"	"Pituitary hormone deficiency, combined, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6595"	"LHX3"	"OMIM:221750"	"non-acquired combined pituitary hormone deficiency with spine abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-20 15:02:02"	""	""	"16394081, 17327381, 18407919, 25500790, 26147833, 8638120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LHX3rel"	"2023-11-30"
"GENCC_000106-HGNC_21734-OMIM_262700-HP_0000006-GENCC_100002"	"HGNC:21734"	"LHX4"	"MONDO:0009880"	"short stature-pituitary and cerebellar defects-small sella turcica syndrome"	"OMIM:262700"	"Pituitary hormone deficiency, combined, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21734"	"LHX4"	"OMIM:262700"	"short stature-pituitary and cerebellar defects-small sella turcica syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-13 12:09:59"	""	""	"11567216, 16735499, 18073311, 18445675, 23990694, 25910213, 27820671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LHX4rel"	"2023-11-30"
"GENCC_000106-HGNC_16429-OMIM_614462-HP_0000007-GENCC_100002"	"HGNC:16429"	"LIAS"	"MONDO:0013762"	"lipoic acid synthetase deficiency"	"OMIM:614462"	"Hyperglycinemia, lactic acidosis, and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16429"	"LIAS"	"OMIM:614462"	"lipoic acid synthetase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 16:41:46"	""	""	"22152680, 24334290, 26108146, 27923773, 28817111"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIAS0PDHLD"	"2023-11-30"
"GENCC_000106-HGNC_6617-OMIM_278000-HP_0000007-GENCC_100002"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"OMIM:278000"	"Cholesteryl ester storage disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6617"	"LIPA"	"OMIM:278000"	"lysosomal acid lipase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-28 04:08:06"	""	""	"10562460, 22227072, 23485521, 24072694, 24792990, 8617513, 9700186"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIPA0CholestlEster"	"2023-11-30"
"GENCC_000106-HGNC_18483-OMIM_604379-HP_0000007-GENCC_100002"	"HGNC:18483"	"LIPH"	"MONDO:0011452"	"hypotrichosis 7"	"OMIM:604379"	"Woolly hair, autosomal recessive 2 with or without hypotrichosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18483"	"LIPH"	"OMIM:604379"	"hypotrichosis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-22 22:19:00"	""	""	"17333281, 18445047, 18830268, 19892526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIPH0Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_16841-OMIM_601098-HP_0000006-GENCC_100002"	"HGNC:16841"	"LITAF"	"MONDO:0010995"	"Charcot-Marie-Tooth disease type 1C"	"OMIM:601098"	"Charcot-Marie-Tooth disease, type 1C"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16841"	"LITAF"	"OMIM:601098"	"Charcot-Marie-Tooth disease type 1C"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 19:46:25"	""	""	"11713717, 12525712, 15122712, 22539601, 23166352, 23576546, 24604904, 25058650, 603795"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LITAF0CMT"	"2023-11-30"
"GENCC_000106-HGNC_23038-OMIM_277380-HP_0000007-GENCC_100002"	"HGNC:23038"	"LMBRD1"	"MONDO:0010183"	"methylmalonic aciduria and homocystinuria type cblF"	"OMIM:277380"	"Methylmalonic aciduria and homocystinuria, cblF type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23038"	"LMBRD1"	"OMIM:277380"	"methylmalonic aciduria and homocystinuria type cblF"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-06 08:22:55"	""	""	"19136951, 21303734, 23776111"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMBRD10MAH"	"2023-11-30"
"GENCC_000106-HGNC_21610-OMIM_618090-HP_0000007-GENCC_100002"	"HGNC:21610"	"LNPK"	"MONDO:0060761"	"neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum"	"OMIM:618090"	"Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21610"	"LNPK"	"OMIM:618090"	"neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 11:32:28"	""	""	"30032983"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LNPK0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_20889-OMIM_615112-HP_0000007-GENCC_100002"	"HGNC:20889"	"LRIG2"	"MONDO:0014049"	"urofacial syndrome 2"	"OMIM:615112"	"Urofacial syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20889"	"LRIG2"	"OMIM:615112"	"urofacial syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:53"	""	""	"23313374, 24023893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRIG20Urofacia"	"2023-11-30"
"GENCC_000106-HGNC_16725-OMIM_614935-HP_0000007-GENCC_100002"	"HGNC:16725"	"DNAAF11"	"MONDO:0013979"	"primary ciliary dyskinesia 19"	"OMIM:614935"	"Ciliary dyskinesia, primary, 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16725"	"DNAAF11"	"OMIM:614935"	"primary ciliary dyskinesia 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-20 21:35:39"	""	""	"23122589"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRRC60PCD"	"2023-11-30"
"GENCC_000106-HGNC_6717-OMIM_613177-HP_0000007-GENCC_100002"	"HGNC:6717"	"LTBP4"	"MONDO:0013170"	"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"	"OMIM:613177"	"Cutis laxa, autosomal recessive, type IC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6717"	"LTBP4"	"OMIM:613177"	"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 14:52:07"	""	""	"12208849, 19836010, 22829427, 343782"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LTBP40CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_28072-OMIM_615838-HP_0000007-GENCC_100002"	"HGNC:28072"	"LYRM7"	"MONDO:0014364"	"mitochondrial complex III deficiency nuclear type 8"	"OMIM:615838"	"Mitochondrial complex III deficiency, nuclear type 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28072"	"LYRM7"	"OMIM:615838"	"mitochondrial complex III deficiency nuclear type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 00:45:47"	""	""	"24014394, 26912632, 27151179, 29353736, 30831263"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LYRM70MC3def"	"2023-11-30"
"GENCC_000106-HGNC_6741-OMIM_615994-HP_0000007-GENCC_100002"	"HGNC:6741"	"LZTFL1"	"MONDO:0014445"	"Bardet-Biedl syndrome 17"	"OMIM:615994"	"Bardet-Biedl syndrome 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6741"	"LZTFL1"	"OMIM:615994"	"Bardet-Biedl syndrome 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"17163542, 22510444, 23692385, 27312011"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LZTFL10BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_6758-OMIM_615877-HP_0000006-GENCC_100002"	"HGNC:6758"	"MAB21L2"	"MONDO:0014380"	"colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"OMIM:615877"	"Microphthalmia/coloboma and skeletal dysplasia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6758"	"MAB21L2"	"OMIM:615877"	"colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 17:13:19"	""	""	"15385160, 24906020, 25719200"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAB21L20Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_6783-OMIM_616680-HP_0000007-GENCC_100002"	"HGNC:6783"	"MAG"	"MONDO:0014729"	"hereditary spastic paraplegia 75"	"OMIM:616680"	"Spastic paraplegia 75, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6783"	"MAG"	"OMIM:616680"	"hereditary spastic paraplegia 75"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:30:33"	""	""	"114294, 24482476, 26179919, 27606346"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAG0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_16353-OMIM_300971-HP_0001417-GENCC_100002"	"HGNC:16353"	"MAGED2"	"MONDO:0010503"	"Bartter disease type 5"	"OMIM:300971"	"Bartter syndrome, type 5, antenatal, transient"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:16353"	"MAGED2"	"OMIM:300971"	"Bartter disease type 5"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:17:16"	""	""	"27120771, 9630034"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAGED20Bartter"	"2023-11-30"
"GENCC_000106-HGNC_6816-OMIM_614181-HP_0000007-GENCC_100002"	"HGNC:6816"	"MAK"	"MONDO:0013611"	"retinitis pigmentosa 62"	"OMIM:614181"	"Retinitis pigmentosa 62"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6816"	"MAK"	"OMIM:614181"	"retinitis pigmentosa 62"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 10:03:49"	""	""	"21148103, 21825139, 21835304, 24938718, 25385675, 29781741"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAK0RP"	"2023-11-30"
"GENCC_000106-HGNC_6819-OMIM_615468-HP_0000007-GENCC_100002"	"HGNC:6819"	"MALT1"	"MONDO:0014197"	"combined immunodeficiency due to MALT1 deficiency"	"OMIM:615468"	"Immunodeficiency 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6819"	"MALT1"	"OMIM:615468"	"combined immunodeficiency due to MALT1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-18 20:56:27"	""	""	"23727036, 25627829"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MALT10CID"	"2023-11-30"
"GENCC_000106-HGNC_6826-OMIM_248500-HP_0000007-GENCC_100002"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"alpha-mannosidosis"	"OMIM:248500"	"Mannosidosis, alpha-, types I and II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6826"	"MAN2B1"	"OMIM:248500"	"alpha-mannosidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 14:08:58"	""	""	"18651971, 22161967, 9915946"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAN2B10Mannosidosis"	"2023-11-30"
"GENCC_000106-HGNC_6831-OMIM_248510-HP_0000007-GENCC_100002"	"HGNC:6831"	"MANBA"	"MONDO:0009562"	"beta-mannosidosis"	"OMIM:248510"	"Mannosidosis, beta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6831"	"MANBA"	"OMIM:248510"	"beta-mannosidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-22 13:46:54"	""	""	"12468273, 16401745, 23588843, 9384606"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MANBA0Mannosidosis"	"2023-11-30"
"GENCC_000106-HGNC_6848-OMIM_613762-HP_0000006-GENCC_100002"	"HGNC:6848"	"MAP3K1"	"MONDO:0013410"	"46,XY sex reversal 6"	"OMIM:613762"	"46XY sex reversal 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6848"	"MAP3K1"	"OMIM:613762"	"46,XY sex reversal 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:47:51"	""	""	"21129722, 21559298, 22171599, 24135036, 25260751, 27899157, 28504475, 29095481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAP3K10GonadalDys"	"2023-11-30"
"GENCC_000106-HGNC_18451-OMIM_613625-HP_0000007-GENCC_100002"	"HGNC:18451"	"MCFD2"	"MONDO:0013331"	"factor 5 and Factor VIII, combined deficiency of, 2"	"OMIM:613625"	"Factor V and factor VIII, combined deficiency of"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18451"	"MCFD2"	"OMIM:613625"	"factor 5 and Factor VIII, combined deficiency of, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"12717434, 17971482, 18391077"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCFD20FactorVA"	"2023-11-30"
"GENCC_000106-HGNC_40050-OMIM_618695-HP_0000007-GENCC_100002"	"HGNC:40050"	"MCIDAS"	"MONDO:0032872"	"ciliary dyskinesia, primary, 42"	"OMIM:618695"	"Ciliary dyskinesia, primary, 42"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:40050"	"MCIDAS"	"OMIM:618695"	"ciliary dyskinesia, primary, 42"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:08:56"	""	""	"25048963, 30877126"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCIDAS0PCD"	"2023-11-30"
"GENCC_000106-HGNC_16147-OMIM_612885-HP_0000007-GENCC_100002"	"HGNC:16147"	"MCM8"	"MONDO:0044776"	"premature ovarian failure 10"	"OMIM:612885"	"?Premature ovarian failure 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16147"	"MCM8"	"OMIM:612885"	"premature ovarian failure 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-14 12:26:36"	""	""	"22771120, 251316, 251370, 25437880, 25873734, 27573988, 27802094, 282878, 28863940, 31042289"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCM80GonadalFailure"	"2023-11-30"
"GENCC_000106-HGNC_19691-OMIM_617282-HP_0000007-GENCC_100002"	"HGNC:19691"	"MECR"	"MONDO:0015003"	"dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"	"OMIM:617282"	"Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19691"	"MECR"	"OMIM:617282"	"dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:39:30"	""	""	"27817865"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MECR0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_2375-OMIM_613668-HP_0000007-GENCC_100002"	"HGNC:2375"	"MED17"	"MONDO:0013351"	"infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"	"OMIM:613668"	"Microcephaly, postnatal progressive, with seizures and brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2375"	"MED17"	"OMIM:613668"	"infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 08:42:31"	""	""	"20950787, 26004231, 30345598"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED170MSCCA"	"2023-11-30"
"GENCC_000106-HGNC_3233-OMIM_614976-HP_0000007-GENCC_100002"	"HGNC:3233"	"MEGF8"	"MONDO:0013998"	"MEGF8-related Carpenter syndrome"	"OMIM:614976"	"Carpenter syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3233"	"MEGF8"	"OMIM:614976"	"MEGF8-related Carpenter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"19218456, 23063620"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MEGF80Carpenter"	"2023-11-30"
"GENCC_000106-HGNC_7013-OMIM_214300-HP_0000007-GENCC_100002"	"HGNC:7013"	"MEOX1"	"MONDO:0008958"	"Klippel-Feil syndrome 2, autosomal recessive"	"OMIM:214300"	"Klippel-Feil syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7013"	"MEOX1"	"OMIM:214300"	"Klippel-Feil syndrome 2, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"23290072, 24073994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MEOX10Klippel-02"	"2023-11-30"
"GENCC_000106-HGNC_29659-OMIM_608681-HP_0000007-GENCC_100002"	"HGNC:29659"	"MESP2"	"MONDO:0012097"	"spondylocostal dysostosis 2, autosomal recessive"	"OMIM:608681"	"Spondylocostal dysostosis 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29659"	"MESP2"	"OMIM:608681"	"spondylocostal dysostosis 2, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-12-03 13:51:26"	""	""	"18485326, 29459493, 9242490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MESP20Spondylocostal"	"2023-11-30"
"GENCC_000106-HGNC_25006-OMIM_618665-HP_0000007-GENCC_100002"	"HGNC:25006"	"METTL5"	"MONDO:0032860"	"intellectual developmental disorder, autosomal recessive 72"	"OMIM:618665"	"Intellectual developmental disorder, autosomal recessive 72"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25006"	"METTL5"	"OMIM:618665"	"intellectual developmental disorder, autosomal recessive 72"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-23 12:29:04"	""	""	"27457812, 28097321, 28940097"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"METTL50Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_16205-OMIM_615084-HP_0000007-GENCC_100002"	"HGNC:16205"	"MGME1"	"MONDO:0014039"	"mitochondrial DNA depletion syndrome 11"	"OMIM:615084"	"Mitochondrial DNA depletion syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16205"	"MGME1"	"OMIM:615084"	"mitochondrial DNA depletion syndrome 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"23313956, 25058219, 28097321, 28594148, 28711739"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MGME10MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_7103-OMIM_615274-HP_0000006-GENCC_100002"	"HGNC:7103"	"MIP"	"MONDO:0014110"	"cataract 15 multiple types"	"OMIM:615274"	"Cataract 15, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7103"	"MIP"	"OMIM:615274"	"cataract 15 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 21:43:57"	""	""	"10802646, 23508780, 24405844, 25803033, 27456987, 36734406, 8563764"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIP0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_31648-OMIM_613074-HP_0000006-GENCC_100002"	"HGNC:31648"	"MIR96"	"MONDO:0013114"	"autosomal dominant nonsyndromic hearing loss 50"	"OMIM:613074"	"Deafness, autosomal dominant 50"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31648"	"MIR96"	"OMIM:613074"	"autosomal dominant nonsyndromic hearing loss 50"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:27"	""	""	"14757864, 192144, 19363478, 19363479, 22038834, 33318051"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIR960Deafness"	"2023-11-30"
"GENCC_000106-HGNC_29643-OMIM_609227-HP_0000007-GENCC_100002"	"HGNC:29643"	"MLPH"	"MONDO:0012220"	"Griscelli syndrome type 3"	"OMIM:609227"	"Griscelli syndrome, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29643"	"MLPH"	"OMIM:609227"	"Griscelli syndrome type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"11504925, 12861011, 12897212, 18197963, 21993982, 22711375, 26337734, 26915675, 32864751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MLPH0Griscelli"	"2023-11-30"
"GENCC_000106-HGNC_18871-OMIM_251100-HP_0000007-GENCC_100002"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"OMIM:251100"	"Methylmalonic aciduria, vitamin B12-responsive, cblA type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18871"	"MMAA"	"OMIM:251100"	"methylmalonic aciduria, cblA type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:18:23"	""	""	"15523652, 15781192"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMAA0MethylCblA"	"2023-11-30"
"GENCC_000106-HGNC_19331-OMIM_251110-HP_0000007-GENCC_100002"	"HGNC:19331"	"MMAB"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"OMIM:251110"	"Methylmalonic aciduria, vitamin B12-responsive, cblB type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19331"	"MMAB"	"OMIM:251110"	"methylmalonic aciduria, cblB type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 17:19:18"	""	""	"15781192, 16410054, 251110"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMAB0MethylCblB"	"2023-11-30"
"GENCC_000106-HGNC_25221-OMIM_277410-HP_0000007-GENCC_100002"	"HGNC:25221"	"MMADHC"	"MONDO:0010185"	"methylmalonic aciduria and homocystinuria type cblD"	"OMIM:277410"	"Methylmalonic aciduria and homocystinuria, cblD type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25221"	"MMADHC"	"OMIM:277410"	"methylmalonic aciduria and homocystinuria type cblD"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-08 14:04:37"	""	""	"18385497"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMADHC0CblD"	"2023-11-30"
"GENCC_000106-HGNC_7166-OMIM_259600-HP_0000007-GENCC_100002"	"HGNC:7166"	"MMP2"	"MONDO:0009809"	"multicentric osteolysis, nodulosis, and arthropathy"	"OMIM:259600"	"Multicentric osteolysis, nodulosis, and arthropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7166"	"MMP2"	"OMIM:259600"	"multicentric osteolysis, nodulosis, and arthropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"11431697, 17400654, 26601801, 373578"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMP20MONA"	"2023-11-30"
"GENCC_000106-HGNC_7167-OMIM_612529-HP_0000007-GENCC_100002"	"HGNC:7167"	"MMP20"	"MONDO:0012926"	"amelogenesis imperfecta hypomaturation type 2A2"	"OMIM:612529"	"Amelogenesis imperfecta, type IIA2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7167"	"MMP20"	"OMIM:612529"	"amelogenesis imperfecta hypomaturation type 2A2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-22 08:36:31"	""	""	"12393861, 15557396, 16246936, 18096894, 21597265, 23625376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMP200AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_14357-OMIM_616749-HP_0000007-GENCC_100002"	"HGNC:14357"	"MMP21"	"MONDO:0014762"	"heterotaxy, visceral, 7, autosomal"	"OMIM:616749"	"Heterotaxy, visceral, 7, autosomal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14357"	"MMP21"	"OMIM:616749"	"heterotaxy, visceral, 7, autosomal"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"25937001, 26437028, 26437029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMP210MMP21rel"	"2023-11-30"
"GENCC_000106-HGNC_18234-OMIM_603592-HP_0000007-GENCC_100002"	"HGNC:18234"	"MOCOS"	"MONDO:0011346"	"xanthinuria type II"	"OMIM:603592"	"Xanthinuria, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18234"	"MOCOS"	"OMIM:603592"	"xanthinuria type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"11302742, 17368066, 25967871, 603592"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MOCOS0Xanthinuria"	"2023-11-30"
"GENCC_000106-HGNC_7193-OMIM_252160-HP_0000007-GENCC_100002"	"HGNC:7193"	"MOCS2"	"MONDO:0009644"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"	"OMIM:252160"	"Molybdenum cofactor deficiency B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7193"	"MOCS2"	"OMIM:252160"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 00:29:14"	""	""	"10053004, 121180, 12732628, 1348567536, 21031595, 25764214"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MOCS20MolybdCofacDef"	"2023-11-30"
"GENCC_000106-HGNC_16002-OMIM_234050-HP_0000007-GENCC_100002"	"HGNC:16002"	"MPLKIP"	"MONDO:0021013"	"trichothiodystrophy 4, nonphotosensitive"	"OMIM:234050"	"Trichothiodystrophy 4, nonphotosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16002"	"MPLKIP"	"OMIM:234050"	"trichothiodystrophy 4, nonphotosensitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 22:17:50"	""	""	"15645389, 16977596, 25290684, 25606444, 27848944"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPLKIP0TTD"	"2023-11-30"
"GENCC_000106-HGNC_16650-OMIM_615395-HP_0000007-GENCC_100002"	"HGNC:16650"	"MRPL44"	"MONDO:0014162"	"infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"	"OMIM:615395"	"Combined oxidative phosphorylation deficiency 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16650"	"MRPL44"	"OMIM:615395"	"infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-05 11:56:23"	""	""	"23315540, 2579748, 25797485"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPL440OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_16618-OMIM_617664-HP_0000007-GENCC_100002"	"HGNC:16618"	"MRPS34"	"MONDO:0054654"	"combined oxidative phosphorylation deficiency 32"	"OMIM:617664"	"Combined oxidative phosphorylation deficiency 32"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16618"	"MRPS34"	"OMIM:617664"	"combined oxidative phosphorylation deficiency 32"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:17"	""	""	"28777931"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS340OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_27375-OMIM_613718-HP_0000007-GENCC_100002"	"HGNC:27375"	"MSRB3"	"MONDO:0013386"	"autosomal recessive nonsyndromic hearing loss 74"	"OMIM:613718"	"Deafness, autosomal recessive 74"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27375"	"MSRB3"	"OMIM:613718"	"autosomal recessive nonsyndromic hearing loss 74"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"21185009, 24191262, 24949729, 250970, 26649646"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSRB30Deafness"	"2023-11-30"
"GENCC_000106-HGNC_25532-OMIM_613672-HP_0000007-GENCC_100002"	"HGNC:25532"	"MTPAP"	"MONDO:0013354"	"spastic ataxia 4"	"OMIM:613672"	"?Spastic ataxia 4, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25532"	"MTPAP"	"OMIM:613672"	"spastic ataxia 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"20970105, 24651433, 25008111, 27391121, 27959697, 31779033"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTPAP0AtaxiaSpastic"	"2023-11-30"
"GENCC_000106-HGNC_18150-OMIM_616549-HP_0000007-GENCC_100002"	"HGNC:18150"	"MYO18B"	"MONDO:0014689"	"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	"OMIM:616549"	"Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18150"	"MYO18B"	"OMIM:616549"	"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-13 15:30:25"	""	""	"18761673, 25748484, 26752647, 27858739, 27879346, 28104788, 31130284, 31195167, 32184166, 32637634, 33179433"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO18B0Klippel-"	"2023-11-30"
"GENCC_000106-HGNC_7599-OMIM_614131-HP_0000007-GENCC_100002"	"HGNC:7599"	"MYO1E"	"MONDO:0013589"	"focal segmental glomerulosclerosis 6"	"OMIM:614131"	"Glomerulosclerosis, focal segmental, 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7599"	"MYO1E"	"OMIM:614131"	"focal segmental glomerulosclerosis 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 22:25:23"	""	""	"19005011, 21756023, 23595123, 25349199, 28658201, 28921387"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO1E0FSGS"	"2023-11-30"
"GENCC_000106-HGNC_7610-OMIM_137750-HP_0000006-GENCC_100002"	"HGNC:7610"	"MYOC"	"MONDO:0007664"	"glaucoma 1, open angle, A"	"OMIM:137750"	"Glaucoma 1A, primary open angle"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7610"	"MYOC"	"OMIM:137750"	"glaucoma 1, open angle, A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-28 16:01:05"	""	""	"10196380, 10798654, 11152659, 11535458, 11604506, 12860809, 14764620, 15456875, 15623777, 15733270, 16466712, 17108164, 18385784, 18436825, 18776955, 19023451, 21821918, 22615763, 22736945, 23876925, 26396484, 26621382, 8513321, 9005853, 9328473, 9697688"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYOC0Glaucoma"	"2023-11-30"
"GENCC_000106-HGNC_19237-OMIM_610442-HP_0000007-GENCC_100002"	"HGNC:19237"	"NANS"	"MONDO:0012495"	"spondyloepimetaphyseal dysplasia, Genevieve type"	"OMIM:610442"	"Spondyloepimetaphyseal dysplasia, Genevieve type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19237"	"NANS"	"OMIM:610442"	"spondyloepimetaphyseal dysplasia, Genevieve type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-17 07:24:57"	""	""	"27213289"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NANS0Spondylo03"	"2023-11-30"
"GENCC_000106-HGNC_7660-OMIM_233700-HP_0000007-GENCC_100002"	"HGNC:7660"	"NCF1"	"MONDO:0009309"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1"	"OMIM:233700"	"Chronic granulomatous disease 1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7660"	"NCF1"	"OMIM:233700"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-03 15:50:57"	""	""	"10706888, 11133775, 16972229, 18546332, 2011585, 20167518, 24943880, 25188296, 26185101, 26680691"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCF10ChronicGran"	"2023-11-30"
"GENCC_000106-HGNC_7661-OMIM_233710-HP_0000007-GENCC_100002"	"HGNC:7661"	"NCF2"	"MONDO:0009310"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2"	"OMIM:233710"	"Chronic granulomatous disease 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7661"	"NCF2"	"OMIM:233710"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-18 14:11:49"	""	""	"10498624, 20167518, 22514628, 2770793, 7903171"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCF20ChronicGran"	"2023-11-30"
"GENCC_000106-HGNC_7662-OMIM_613960-HP_0000007-GENCC_100002"	"HGNC:7662"	"NCF4"	"MONDO:0013507"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3"	"OMIM:613960"	"Chronic granulomatous disease 3, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7662"	"NCF4"	"OMIM:613960"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"16880254, 19692703, 20167518"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCF40Granulomat"	"2023-11-30"
"GENCC_000106-HGNC_7683-OMIM_301020-HP_0001417-GENCC_100002"	"HGNC:7683"	"NDUFA1"	"MONDO:0026720"	"mitochondrial complex 1 deficiency, nuclear type 12"	"OMIM:301020"	"Mitochondrial complex I deficiency, nuclear type 12"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7683"	"NDUFA1"	"OMIM:301020"	"mitochondrial complex 1 deficiency, nuclear type 12"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:58"	""	""	"15293270, 17262856, 19185523, 21596602, 25356405, 25356970, 28506826, 29506883"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFA10MC1def"	"2023-11-30"
"GENCC_000106-HGNC_20371-OMIM_618236-HP_0000007-GENCC_100002"	"HGNC:20371"	"NDUFA11"	"MONDO:0032619"	"mitochondrial complex 1 deficiency, nuclear type 14"	"OMIM:618236"	"Mitochondrial complex I deficiency, nuclear type 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20371"	"NDUFA11"	"OMIM:618236"	"mitochondrial complex 1 deficiency, nuclear type 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-21 16:13:56"	""	""	"18306244, 26425740"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFA110MC1def"	"2023-11-30"
"GENCC_000106-HGNC_28086-OMIM_618233-HP_0000007-GENCC_100002"	"HGNC:28086"	"NDUFAF2"	"MONDO:0032616"	"mitochondrial complex 1 deficiency, nuclear type 10"	"OMIM:618233"	"Mitochondrial complex I deficiency, nuclear type 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28086"	"NDUFAF2"	"OMIM:618233"	"mitochondrial complex 1 deficiency, nuclear type 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-21 16:16:36"	""	""	"18180188"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFAF20MC1def"	"2023-11-30"
"GENCC_000106-HGNC_29918-OMIM_618240-HP_0000007-GENCC_100002"	"HGNC:29918"	"NDUFAF3"	"MONDO:0032623"	"mitochondrial complex 1 deficiency, nuclear type 18"	"OMIM:618240"	"Mitochondrial complex I deficiency, nuclear type 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29918"	"NDUFAF3"	"OMIM:618240"	"mitochondrial complex 1 deficiency, nuclear type 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 18:35:57"	""	""	"19463981, 26425749"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFAF30MC1def"	"2023-11-30"
"GENCC_000106-HGNC_21034-OMIM_618237-HP_0000007-GENCC_100002"	"HGNC:21034"	"NDUFAF4"	"MONDO:0032620"	"mitochondrial complex 1 deficiency, nuclear type 15"	"OMIM:618237"	"Mitochondrial complex I deficiency, nuclear type 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21034"	"NDUFAF4"	"OMIM:618237"	"mitochondrial complex 1 deficiency, nuclear type 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-21 16:14:06"	""	""	"18179882, 22200994, 26425749, 28853723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFAF40MC1def"	"2023-11-30"
"GENCC_000106-HGNC_15899-OMIM_618238-HP_0000007-GENCC_100002"	"HGNC:15899"	"NDUFAF5"	"MONDO:0032621"	"mitochondrial complex 1 deficiency, nuclear type 16"	"OMIM:618238"	"Mitochondrial complex I deficiency, nuclear type 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15899"	"NDUFAF5"	"OMIM:618238"	"mitochondrial complex 1 deficiency, nuclear type 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-28 18:05:22"	""	""	"18940309, 19542079, 20818383, 21607760, 24215330, 25356970, 26275793, 28454995, 29581464, 30266093, 30369941, 30473481, 30581749, 32918965"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFAF50MC1def"	"2023-11-30"
"GENCC_000106-HGNC_7698-OMIM_618246-HP_0000007-GENCC_100002"	"HGNC:7698"	"NDUFB3"	"MONDO:0032629"	"mitochondrial complex 1 deficiency, nuclear type 25"	"OMIM:618246"	"Mitochondrial complex I deficiency, nuclear type 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7698"	"NDUFB3"	"OMIM:618246"	"mitochondrial complex 1 deficiency, nuclear type 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-21 16:13:15"	""	""	"22277967, 22499348, 26795593, 27091925"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFB30MC1def"	"2023-11-30"
"GENCC_000106-HGNC_7707-OMIM_618226-HP_0000007-GENCC_100002"	"HGNC:7707"	"NDUFS1"	"MONDO:0032610"	"mitochondrial complex 1 deficiency, nuclear type 5"	"OMIM:618226"	"Mitochondrial complex I deficiency, nuclear type 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7707"	"NDUFS1"	"OMIM:618226"	"mitochondrial complex 1 deficiency, nuclear type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-01 19:18:27"	""	""	"11349233, 20382551, 22200994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFS10MC1def"	"2023-11-30"
"GENCC_000106-HGNC_7713-OMIM_618232-HP_0000007-GENCC_100002"	"HGNC:7713"	"NDUFS6"	"MONDO:0032615"	"mitochondrial complex 1 deficiency, nuclear type 9"	"OMIM:618232"	"Mitochondrial complex I deficiency, nuclear type 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7713"	"NDUFS6"	"OMIM:618232"	"mitochondrial complex 1 deficiency, nuclear type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 14:53:27"	""	""	"107932, 15372108, 19259137, 21364701, 22200994, 30948790"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFS60MC1def"	"2023-11-30"
"GENCC_000106-HGNC_7715-OMIM_618222-HP_0000007-GENCC_100002"	"HGNC:7715"	"NDUFS8"	"MONDO:0032606"	"mitochondrial complex 1 deficiency, nuclear type 2"	"OMIM:618222"	"Mitochondrial complex I deficiency, nuclear type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7715"	"NDUFS8"	"OMIM:618222"	"mitochondrial complex 1 deficiency, nuclear type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:19"	""	""	"15159508, 20818383, 20819849, 22499348, 2385079, 30831263, 9837812"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFS80CIdef"	"2023-11-30"
"GENCC_000106-HGNC_7716-OMIM_618225-HP_0000007-GENCC_100002"	"HGNC:7716"	"NDUFV1"	"MONDO:0032609"	"mitochondrial complex 1 deficiency, nuclear type 4"	"OMIM:618225"	"Mitochondrial complex I deficiency, nuclear type 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7716"	"NDUFV1"	"OMIM:618225"	"mitochondrial complex 1 deficiency, nuclear type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 15:44:01"	""	""	"10080174, 11349233, 20818383, 22972949, 23266820, 23596069, 26345448"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFV10MC1def"	"2023-11-30"
"GENCC_000106-HGNC_7717-OMIM_618229-HP_0000007-GENCC_100002"	"HGNC:7717"	"NDUFV2"	"MONDO:0032612"	"mitochondrial complex 1 deficiency, nuclear type 7"	"OMIM:618229"	"Mitochondrial complex I deficiency, nuclear type 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7717"	"NDUFV2"	"OMIM:618229"	"mitochondrial complex 1 deficiency, nuclear type 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-07 15:01:19"	""	""	"12754703, 1920150, 21548921, 26008862, 28429146"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFV20MC1def"	"2023-11-30"
"GENCC_000106-HGNC_9706-OMIM_225060-HP_0000007-GENCC_100002"	"HGNC:9706"	"NECTIN1"	"MONDO:0009151"	"cleft lip/palate-ectodermal dysplasia syndrome"	"OMIM:225060"	"Orofacial cleft 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9706"	"NECTIN1"	"OMIM:225060"	"cleft lip/palate-ectodermal dysplasia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"10932188, 15728677, 17089422, 18703497, 19715471, 25913853, 9758630"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NECTIN10CleftLip"	"2023-11-30"
"GENCC_000106-HGNC_7758-OMIM_256550-HP_0000007-GENCC_100002"	"HGNC:7758"	"NEU1"	"MONDO:0009738"	"sialidosis type 2"	"OMIM:256550"	"Sialidosis, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7758"	"NEU1"	"OMIM:256550"	"sialidosis type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-07 07:57:24"	""	""	"10767332, 11063730, 11470272, 11702224, 12023988, 12067718, 14517945, 9054950"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEU10Sialidosis"	"2023-11-30"
"GENCC_000106-HGNC_7797-OMIM_612132-HP_0000006-GENCC_100002"	"HGNC:7797"	"NFKBIA"	"MONDO:0012806"	"ectodermal dysplasia and immunodeficiency 2"	"OMIM:612132"	"Ectodermal dysplasia and immunodeficiency 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7797"	"NFKBIA"	"OMIM:612132"	"ectodermal dysplasia and immunodeficiency 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-31 09:31:21"	""	""	"14523047, 15337789, 17931563, 18412279, 22078572, 23864385, 25601653"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFKBIA0EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_21576-OMIM_254780-HP_0000007-GENCC_100002"	"HGNC:21576"	"NHLRC1"	"MONDO:0009697"	"Lafora disease"	"OMIM:254780"	"Myoclonic epilepsy of Lafora 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21576"	"NHLRC1"	"OMIM:254780"	"Lafora disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 15:14:03"	""	""	"15781812, 17389303"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NHLRC10EPM1"	"2023-11-30"
"GENCC_000106-HGNC_14377-OMIM_613987-HP_0000007-GENCC_100002"	"HGNC:14377"	"NHP2"	"MONDO:0013519"	"dyskeratosis congenita, autosomal recessive 2"	"OMIM:613987"	"Dyskeratosis congenita, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14377"	"NHP2"	"OMIM:613987"	"dyskeratosis congenita, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-07 09:21:40"	""	""	"18523010, 20008900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NHP20DKC"	"2023-11-30"
"GENCC_000106-HGNC_28018-OMIM_612281-HP_0000007-GENCC_100002"	"HGNC:28018"	"NIPAL4"	"MONDO:0012847"	"autosomal recessive congenital ichthyosis 6"	"OMIM:612281"	"Ichthyosis, congenital, autosomal recessive 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28018"	"NIPAL4"	"OMIM:612281"	"autosomal recessive congenital ichthyosis 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 13:53:42"	""	""	"15317751, 17557927, 24397709, 25998749, 27025581, 28122049"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NIPAL40Ichthyos"	"2023-11-30"
"GENCC_000106-HGNC_22938-OMIM_611762-HP_0000006-GENCC_100002"	"HGNC:22938"	"NLRP12"	"MONDO:0012724"	"familial cold autoinflammatory syndrome 2"	"OMIM:611762"	"Familial cold autoinflammatory syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:22938"	"NLRP12"	"OMIM:611762"	"familial cold autoinflammatory syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 15:37:52"	""	""	"18230725, 24064030"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRP120FamColdAutoInf"	"2023-11-30"
"GENCC_000106-HGNC_17877-OMIM_608553-HP_0000007-GENCC_100002"	"HGNC:17877"	"NMNAT1"	"MONDO:0012056"	"Leber congenital amaurosis 9"	"OMIM:608553"	"Leber congenital amaurosis 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17877"	"NMNAT1"	"OMIM:608553"	"Leber congenital amaurosis 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 17:50:44"	""	""	"22842227, 22842229"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NMNAT10Leber"	"2023-11-30"
"GENCC_000106-HGNC_7863-OMIM_614736-HP_0000007-GENCC_100002"	"HGNC:7863"	"NNT"	"MONDO:0013874"	"glucocorticoid deficiency 4"	"OMIM:614736"	"Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7863"	"NNT"	"OMIM:614736"	"glucocorticoid deficiency 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-30 15:51:14"	""	""	"22634753, 25459914"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NNT0GlucocortDef"	"2023-11-30"
"GENCC_000106-HGNC_7897-OMIM_257220-HP_0000007-GENCC_100002"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"OMIM:257220"	"Niemann-Pick disease, type D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7897"	"NPC1"	"OMIM:257220"	"Niemann-Pick disease, type C1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:02:24"	""	""	"9211850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPC10NiemannPickC"	"2023-11-30"
"GENCC_000106-HGNC_14537-OMIM_607625-HP_0000007-GENCC_100002"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"OMIM:607625"	"Niemann-pick disease, type C2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14537"	"NPC2"	"OMIM:607625"	"Niemann-Pick disease, type C2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-23 15:10:08"	""	""	"25145893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPC20NiemannPickC"	"2023-11-30"
"GENCC_000106-HGNC_13394-OMIM_600995-HP_0000007-GENCC_100002"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"OMIM:600995"	"Nephrotic syndrome, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13394"	"NPHS2"	"OMIM:600995"	"nephrotic syndrome, type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-23 15:06:49"	""	""	"10742096, 10966492, 11805168, 12464671, 14701729, 15253708, 16752799, 23595123, 25349199, 26420286, 28392820"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPHS20NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_24969-OMIM_617116-HP_0000006-GENCC_100002"	"HGNC:24969"	"NPRL2"	"MONDO:0014924"	"epilepsy, familial focal, with variable foci 2"	"OMIM:617116"	"Epilepsy, familial focal, with variable foci 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24969"	"NPRL2"	"OMIM:617116"	"epilepsy, familial focal, with variable foci 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-26 02:37:49"	""	""	"26166573, 26505888, 27173016, 27323939, 30093711"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPRL20NPRL2rel"	"2023-11-30"
"GENCC_000106-HGNC_14124-OMIM_617118-HP_0000006-GENCC_100002"	"HGNC:14124"	"NPRL3"	"MONDO:0014925"	"epilepsy, familial focal, with variable foci 3"	"OMIM:617118"	"Epilepsy, familial focal, with variable foci 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14124"	"NPRL3"	"OMIM:617118"	"epilepsy, familial focal, with variable foci 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-27 20:24:31"	""	""	"22538705, 26285051, 26505888"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPRL30NPRL3rel"	"2023-11-30"
"GENCC_000106-HGNC_8022-OMIM_613162-HP_0000007-GENCC_100002"	"HGNC:8022"	"NT5C2"	"MONDO:0013165"	"hereditary spastic paraplegia 45"	"OMIM:613162"	"Spastic paraplegia 45, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8022"	"NT5C2"	"OMIM:613162"	"hereditary spastic paraplegia 45"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 08:28:17"	""	""	"24482476"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NT5C20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_17820-OMIM_266120-HP_0000007-GENCC_100002"	"HGNC:17820"	"NT5C3A"	"MONDO:0009946"	"hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"	"OMIM:266120"	"Anemia, congenital, nonspherocytic hemolytic, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17820"	"NT5C3A"	"OMIM:266120"	"hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 02:59:58"	""	""	"11369620, 12580951, 12714505, 12930399, 16461318, 18499901, 25153905"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NT5C3A0HA0UMPH10NT5C3A"	"2023-11-30"
"GENCC_000106-HGNC_8028-OMIM_616415-HP_0000007-GENCC_100002"	"HGNC:8028"	"NTHL1"	"MONDO:0014630"	"familial adenomatous polyposis 3"	"OMIM:616415"	"Familial adenomatous polyposis 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8028"	"NTHL1"	"OMIM:616415"	"familial adenomatous polyposis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-26 02:18:55"	""	""	"17029639, 25938944, 26431160, 26559593, 27713038, 27720914, 29105096, 30753826, 32239880, 32949222, 33454955, 33917078, 33980861, 34250384, 34363023, 35292903"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NTHL10FAP"	"2023-11-30"
"GENCC_000106-HGNC_8067-OMIM_618393-HP_0000007-GENCC_100002"	"HGNC:8067"	"NUP88"	"MONDO:0100104"	"fetal akinesia deformation sequence 4"	"OMIM:618393"	"Fetal akinesia deformation sequence 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8067"	"NUP88"	"OMIM:618393"	"fetal akinesia deformation sequence 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-02 13:12:45"	""	""	"30543681"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP880FADS"	"2023-11-30"
"GENCC_000106-HGNC_29092-OMIM_612921-HP_0000007-GENCC_100002"	"HGNC:29092"	"OBSL1"	"MONDO:0013039"	"3M syndrome 2"	"OMIM:612921"	"3-M syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29092"	"OBSL1"	"OMIM:612921"	"3M syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-06 21:59:21"	""	""	"19481195, 19877176, 21396581, 28969986, 610991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OBSL103MSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_8490-OMIM_613800-HP_0000007-GENCC_100002"	"HGNC:8490"	"ORC4"	"MONDO:0013428"	"Meier-Gorlin syndrome 2"	"OMIM:613800"	"Meier-Gorlin syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8490"	"ORC4"	"OMIM:613800"	"Meier-Gorlin syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-09 08:38:38"	""	""	"15610739, 16549788, 20010161, 21358631, 21358632, 21497890, 22333897, 23516378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ORC40MeierGorlin"	"2023-11-30"
"GENCC_000106-HGNC_17151-OMIM_613803-HP_0000007-GENCC_100002"	"HGNC:17151"	"ORC6"	"MONDO:0013430"	"Meier-Gorlin syndrome 3"	"OMIM:613803"	"Meier-Gorlin syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17151"	"ORC6"	"OMIM:613803"	"Meier-Gorlin syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 07:12:10"	""	""	"21358632, 22333897, 23516378, 24137536, 25691413"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ORC60MeierGorlin"	"2023-11-30"
"GENCC_000106-HGNC_15761-OMIM_616340-HP_0000006-GENCC_100002"	"HGNC:15761"	"OSBPL2"	"MONDO:0014594"	"autosomal dominant nonsyndromic hearing loss 67"	"OMIM:616340"	"Deafness, autosomal dominant 67"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15761"	"OSBPL2"	"OMIM:616340"	"autosomal dominant nonsyndromic hearing loss 67"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:22:02"	""	""	"25077649, 25759012"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OSBPL20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_18028-OMIM_617729-HP_0000007-GENCC_100002"	"HGNC:18028"	"OSGEP"	"MONDO:0033007"	"Galloway-Mowat syndrome 3"	"OMIM:617729"	"Galloway-Mowat syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18028"	"OSGEP"	"OMIM:617729"	"Galloway-Mowat syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-10 10:57:32"	""	""	"28272532, 28805828, 30558655, 30975089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OSGEP0Galloway"	"2023-11-30"
"GENCC_000106-HGNC_21652-OMIM_259720-HP_0000007-GENCC_100002"	"HGNC:21652"	"OSTM1"	"MONDO:0009817"	"autosomal recessive osteopetrosis 5"	"OMIM:259720"	"Osteopetrosis, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21652"	"OSTM1"	"OMIM:259720"	"autosomal recessive osteopetrosis 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-24 15:12:16"	""	""	"12627228, 15108279, 16813530, 17922613, 23685543, 36369659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OSTM10Osteopetrosis"	"2023-11-30"
"GENCC_000106-HGNC_24281-OMIM_617452-HP_0000007-GENCC_100002"	"HGNC:24281"	"OTUD6B"	"MONDO:0044319"	"intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"	"OMIM:617452"	"Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24281"	"OTUD6B"	"OMIM:617452"	"intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-20 14:42:57"	""	""	"28343629"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTUD6B0OTUD6Bsyndrome"	"2023-11-30"
"GENCC_000106-HGNC_15459-OMIM_608224-HP_0000006-GENCC_100002"	"HGNC:15459"	"P2RX2"	"MONDO:0011994"	"autosomal dominant nonsyndromic hearing loss 41"	"OMIM:608224"	"Deafness, autosomal dominant 41"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15459"	"P2RX2"	"OMIM:608224"	"autosomal dominant nonsyndromic hearing loss 41"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 15:03:19"	""	""	"221582, 23345450, 24211385, 29986705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"P2RX20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_19316-OMIM_610915-HP_0000007-GENCC_100002"	"HGNC:19316"	"P3H1"	"MONDO:0012581"	"osteogenesis imperfecta type 8"	"OMIM:610915"	"Osteogenesis imperfecta, type VIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19316"	"P3H1"	"OMIM:610915"	"osteogenesis imperfecta type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 18:57:51"	""	""	"17277775, 18566967, 19088120, 22281939, 24715559"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"P3H10OI"	"2023-11-30"
"GENCC_000106-HGNC_8592-OMIM_300558-HP_0001417-GENCC_100002"	"HGNC:8592"	"PAK3"	"MONDO:0010361"	"intellectual disability, X-linked 30"	"OMIM:300558"	"Intellectual developmental disorder, X-linked 30"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8592"	"PAK3"	"OMIM:300558"	"intellectual disability, X-linked 30"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:56:37"	""	""	"10946356, 12884430, 16014725, 17537723, 18523455, 21115725, 24556213, 9731525"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAK30XLID"	"2023-11-30"
"GENCC_000106-HGNC_29679-OMIM_613320-HP_0000007-GENCC_100002"	"HGNC:29679"	"PAM16"	"MONDO:0013223"	"autosomal recessive spondylometaphyseal dysplasia, Megarbane type"	"OMIM:613320"	"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29679"	"PAM16"	"OMIM:613320"	"autosomal recessive spondylometaphyseal dysplasia, Megarbane type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"24786642, 27354339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAM160Spondylo02"	"2023-11-30"
"GENCC_000106-HGNC_8604-OMIM_612847-HP_0000007-GENCC_100002"	"HGNC:8604"	"PAPSS2"	"MONDO:0019666"	"spondyloepimetaphyseal dysplasia, PAPSS2 type"	"OMIM:612847"	"Brachyolmia 4 with mild epiphyseal and metaphyseal changes"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8604"	"PAPSS2"	"OMIM:612847"	"spondyloepimetaphyseal dysplasia, PAPSS2 type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-01 13:41:56"	""	""	"19474428, 22791835, 23633440, 23824674, 9771708"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAPSS20Brachylomia"	"2023-11-30"
"GENCC_000106-HGNC_16369-OMIM_606324-HP_0000007-GENCC_100002"	"HGNC:16369"	"PARK7"	"MONDO:0011658"	"autosomal recessive early-onset Parkinson disease 7"	"OMIM:606324"	"Parkinson disease 7, autosomal recessive early-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16369"	"PARK7"	"OMIM:606324"	"autosomal recessive early-onset Parkinson disease 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-23 12:24:06"	""	""	"12446870, 12891685, 12953260, 14598065, 14638971, 15365989, 18785233, 19680261, 20506312, 20837857, 22173095, 22892098, 26972524"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PARK70Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_33630-OMIM_617743-HP_0000007-GENCC_100002"	"HGNC:33630"	"PATL2"	"MONDO:0021575"	"oocyte maturation defect 4"	"OMIM:617743"	"Oocyte/zygote/embryo maturation arrest 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33630"	"PATL2"	"OMIM:617743"	"oocyte maturation defect 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-25 10:50:24"	""	""	"28965849"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PATL20PATL2rel"	"2023-11-30"
"GENCC_000106-HGNC_8622-OMIM_218700-HP_0000006-GENCC_100002"	"HGNC:8622"	"PAX8"	"MONDO:0024264"	"hypothyroidism, congenital, nongoitrous, 2"	"OMIM:218700"	"Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8622"	"PAX8"	"OMIM:218700"	"hypothyroidism, congenital, nongoitrous, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-20 20:58:18"	""	""	"15863666, 20302910, 22898500, 23308388"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX80Hypothy"	"2023-11-30"
"GENCC_000106-HGNC_8623-OMIM_604625-HP_0000006-GENCC_100002"	"HGNC:8623"	"PAX9"	"MONDO:0011477"	"tooth agenesis, selective, 3"	"OMIM:604625"	"Tooth agenesis, selective, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8623"	"PAX9"	"OMIM:604625"	"tooth agenesis, selective, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 18:29:06"	""	""	"10615120, 11827258, 11941488, 12605438, 14571272, 14607846, 16236760, 16333316, 16479262, 19429910, 21098475, 21626677, 22058014, 23167694, 24028587, 28910570"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX90ToothAgen"	"2023-11-30"
"GENCC_000106-HGNC_8646-OMIM_264070-HP_0000007-GENCC_100002"	"HGNC:8646"	"PCBD1"	"MONDO:0009908"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"OMIM:264070"	"Hyperphenylalaninemia, BH4-deficient, D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8646"	"PCBD1"	"OMIM:264070"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"264070, 958615"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCBD10BiopDefHyperphe"	"2023-11-30"
"GENCC_000106-HGNC_16068-OMIM_210720-HP_0000007-GENCC_100002"	"HGNC:16068"	"PCNT"	"MONDO:0008872"	"microcephalic osteodysplastic primordial dwarfism type II"	"OMIM:210720"	"Microcephalic osteodysplastic primordial dwarfism, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16068"	"PCNT"	"OMIM:210720"	"microcephalic osteodysplastic primordial dwarfism type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-30 20:47:28"	""	""	"18157127, 18174396, 22821869, 28454995"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCNT0Seckel"	"2023-11-30"
"GENCC_000106-HGNC_8761-OMIM_603285-HP_0000006-GENCC_100002"	"HGNC:8761"	"PDCD10"	"MONDO:0011305"	"cerebral cavernous malformation 3"	"OMIM:603285"	"Cerebral cavernous malformations-3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8761"	"PDCD10"	"OMIM:603285"	"cerebral cavernous malformation 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"15543491, 17041941, 18300272, 20371769, 23801932, 24689081"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDCD100CerebCavern"	"2023-11-30"
"GENCC_000106-HGNC_8788-OMIM_615665-HP_0000007-GENCC_100002"	"HGNC:8788"	"PDE6D"	"MONDO:0014297"	"Joubert syndrome 22"	"OMIM:615665"	"Joubert syndrome 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8788"	"PDE6D"	"OMIM:615665"	"Joubert syndrome 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"17496142, 23150559, 24166846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE6D0Joubert"	"2023-11-30"
"GENCC_000106-HGNC_8789-OMIM_613582-HP_0000007-GENCC_100002"	"HGNC:8789"	"PDE6G"	"MONDO:0013315"	"retinitis pigmentosa 57"	"OMIM:613582"	"Retinitis pigmentosa 57"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8789"	"PDE6G"	"OMIM:613582"	"retinitis pigmentosa 57"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 09:50:27"	""	""	"20655036, 21920434, 25097241, 8638127"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE6G0RP"	"2023-11-30"
"GENCC_000106-HGNC_8808-OMIM_614111-HP_0000007-GENCC_100002"	"HGNC:8808"	"PDHB"	"MONDO:0013580"	"pyruvate dehydrogenase E1-beta deficiency"	"OMIM:614111"	"Pyruvate dehydrogenase E1-beta deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8808"	"PDHB"	"OMIM:614111"	"pyruvate dehydrogenase E1-beta deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"18164639, 19924563, 21914562, 25356417, 26014431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDHB0PDHC"	"2023-11-30"
"GENCC_000106-HGNC_21350-OMIM_245349-HP_0000007-GENCC_100002"	"HGNC:21350"	"PDHX"	"MONDO:0009503"	"pyruvate dehydrogenase E3-binding protein deficiency"	"OMIM:245349"	"Lacticacidemia due to PDX1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21350"	"PDHX"	"OMIM:245349"	"pyruvate dehydrogenase E3-binding protein deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-22 15:46:41"	""	""	"16904023, 21914562"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDHX0PDHC"	"2023-11-30"
"GENCC_000106-HGNC_8811-OMIM_300905-HP_0001417-GENCC_100002"	"HGNC:8811"	"PDK3"	"MONDO:0010479"	"Charcot-Marie-Tooth disease X-linked dominant 6"	"OMIM:300905"	"?Charcot-Marie-Tooth disease, X-linked dominant, 6"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8811"	"PDK3"	"OMIM:300905"	"Charcot-Marie-Tooth disease X-linked dominant 6"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 08:54:53"	""	""	"20849849, 23297365, 26801680, 27388934"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDK30CMT"	"2023-11-30"
"GENCC_000106-HGNC_8877-OMIM_232800-HP_0000007-GENCC_100002"	"HGNC:8877"	"PFKM"	"MONDO:0009295"	"glycogen storage disease VII"	"OMIM:232800"	"Glycogen storage disease VII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8877"	"PFKM"	"OMIM:232800"	"glycogen storage disease VII"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"22133655, 7825568, 8037209"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PFKM0GSD"	"2023-11-30"
"GENCC_000106-HGNC_8889-OMIM_261670-HP_0000007-GENCC_100002"	"HGNC:8889"	"PGAM2"	"MONDO:0009865"	"glycogen storage disease due to phosphoglycerate mutase deficiency"	"OMIM:261670"	"Glycogen storage disease X"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8889"	"PGAM2"	"OMIM:261670"	"glycogen storage disease due to phosphoglycerate mutase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"19273759, 19322572, 19783439, 8447317"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PGAM20GSD"	"2023-11-30"
"GENCC_000106-HGNC_8918-OMIM_307800-HP_0001417-GENCC_100002"	"HGNC:8918"	"PHEX"	"MONDO:0010619"	"X-linked dominant hypophosphatemic rickets"	"OMIM:307800"	"Hypophosphatemic rickets, X-linked dominant"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8918"	"PHEX"	"OMIM:307800"	"X-linked dominant hypophosphatemic rickets"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-01 15:15:50"	""	""	"18172553, 19219621, 9077527, 9097956, 9106524"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHEX0HypophosRicket"	"2023-11-30"
"GENCC_000106-HGNC_8925-OMIM_300559-HP_0001417-GENCC_100002"	"HGNC:8925"	"PHKA1"	"MONDO:0010362"	"glycogen storage disease IXd"	"OMIM:300559"	"Muscle glycogenosis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8925"	"PHKA1"	"OMIM:300559"	"glycogen storage disease IXd"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-16 17:18:41"	""	""	"15637709, 22238410, 24326380, 35710611, 7874115, 8298647, 9731190"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHKA10GSD"	"2023-11-30"
"GENCC_000106-HGNC_8926-OMIM_306000-HP_0001417-GENCC_100002"	"HGNC:8926"	"PHKA2"	"MONDO:0010598"	"glycogen storage disease IXa1"	"OMIM:306000"	"Glycogen storage disease, type IXa1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8926"	"PHKA2"	"OMIM:306000"	"glycogen storage disease IXa1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-02 13:39:14"	""	""	"10330341, 17689125, 21646031, 21911307, 2303074, 7711737, 7847371"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHKA20GSD"	"2023-11-30"
"GENCC_000106-HGNC_8927-OMIM_261750-HP_0000007-GENCC_100002"	"HGNC:8927"	"PHKB"	"MONDO:0009868"	"glycogen storage disease IXb"	"OMIM:261750"	"Phosphorylase kinase deficiency of liver and muscle, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8927"	"PHKB"	"OMIM:261750"	"glycogen storage disease IXb"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:00:58"	""	""	"25266922, 9215682, 9326319"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHKB0GSD"	"2023-11-30"
"GENCC_000106-HGNC_8940-OMIM_266500-HP_0000007-GENCC_100002"	"HGNC:8940"	"PHYH"	"MONDO:0009958"	"adult Refsum disease"	"OMIM:266500"	"Refsum disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8940"	"PHYH"	"OMIM:266500"	"adult Refsum disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:49"	""	""	"10767344, 14974078, 17956237, 23622381, 25604618, 9326940"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHYH0Refsum"	"2023-11-30"
"GENCC_000106-HGNC_8959-OMIM_618580-HP_0000007-GENCC_100002"	"HGNC:8959"	"PIGB"	"MONDO:0032822"	"developmental and epileptic encephalopathy, 80"	"OMIM:618580"	"Developmental and epileptic encephalopathy 80"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8959"	"PIGB"	"OMIM:618580"	"developmental and epileptic encephalopathy, 80"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-25 09:39:31"	""	""	"22228761, 28991257, 31256876, 34161862, 34400385"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGB0PIGBrel"	"2023-11-30"
"GENCC_000106-HGNC_8960-OMIM_617816-HP_0000007-GENCC_100002"	"HGNC:8960"	"PIGC"	"MONDO:0040500"	"glycosylphosphatidylinositol biosynthesis defect 16"	"OMIM:617816"	"Glycosylphosphatidylinositol biosynthesis defect 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8960"	"PIGC"	"OMIM:617816"	"glycosylphosphatidylinositol biosynthesis defect 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 15:12:56"	""	""	"26036949, 27694521, 32707268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGC0PIGCrel"	"2023-11-30"
"GENCC_000106-HGNC_23785-OMIM_121850-HP_0000006-GENCC_100002"	"HGNC:23785"	"PIKFYVE"	"MONDO:0007376"	"fleck corneal dystrophy"	"OMIM:121850"	"Corneal fleck dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23785"	"PIKFYVE"	"OMIM:121850"	"fleck corneal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:29:24"	""	""	"15902656, 23288988, 26396486"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIKFYVE0CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_8996-OMIM_611369-HP_0000007-GENCC_100002"	"HGNC:8996"	"PIP5K1C"	"MONDO:0012656"	"lethal congenital contracture syndrome 3"	"OMIM:611369"	"Lethal congenital contractural syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8996"	"PIP5K1C"	"OMIM:611369"	"lethal congenital contracture syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-19 11:21:08"	""	""	"17701898"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIP5K1C0LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_9035-OMIM_618372-HP_0000007-GENCC_100002"	"HGNC:9035"	"PLA2G4A"	"MONDO:0018794"	"cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	"OMIM:618372"	"Gastrointestinal ulceration, recurrent, with dysfunctional platelets"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9035"	"PLA2G4A"	"OMIM:618372"	"cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-04-27 18:18:16"	""	""	"18451993, 21247147, 23268370, 25102815"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLA2G4A0Phosphol"	"2023-11-30"
"GENCC_000106-HGNC_9043-OMIM_617527-HP_0000007-GENCC_100002"	"HGNC:9043"	"PLAA"	"MONDO:0060502"	"neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"	"OMIM:617527"	"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9043"	"PLAA"	"OMIM:617527"	"neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-13 15:18:46"	""	""	"28007986, 28413018, 30577886, 31322726"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLAA0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_17175-OMIM_610725-HP_0000007-GENCC_100002"	"HGNC:17175"	"PLCE1"	"MONDO:0012546"	"nephrotic syndrome, type 3"	"OMIM:610725"	"Nephrotic syndrome, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17175"	"PLCE1"	"OMIM:610725"	"nephrotic syndrome, type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"17086182, 18709391, 20591883, 24742477, 249224, 249402, 25635037, 27442391"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCE10NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_11397-OMIM_616171-HP_0000007-GENCC_100002"	"HGNC:11397"	"PLK4"	"MONDO:0014516"	"microcephaly and chorioretinopathy 2"	"OMIM:616171"	"Microcephaly and chorioretinopathy, autosomal recessive, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11397"	"PLK4"	"OMIM:616171"	"microcephaly and chorioretinopathy 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 07:21:43"	""	""	"11301255, 25320347, 25344692, 30842647"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLK40Seckel"	"2023-11-30"
"GENCC_000106-HGNC_9081-OMIM_225400-HP_0000007-GENCC_100002"	"HGNC:9081"	"PLOD1"	"MONDO:0016002"	"Ehlers-Danlos syndrome, kyphoscoliotic type 1"	"OMIM:225400"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9081"	"PLOD1"	"OMIM:225400"	"Ehlers-Danlos syndrome, kyphoscoliotic type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-07 21:24:13"	""	""	"10874315, 21699693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLOD10EhlersDanlos"	"2023-11-30"
"GENCC_000106-HGNC_9082-OMIM_609220-HP_0000007-GENCC_100002"	"HGNC:9082"	"PLOD2"	"MONDO:0012217"	"Bruck syndrome 2"	"OMIM:609220"	"Bruck syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9082"	"PLOD2"	"OMIM:609220"	"Bruck syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:12:29"	""	""	"12881513, 19762917, 22689593, 25238597, 28116328, 29177700, 29178448"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLOD20BruckSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_13635-OMIM_618183-HP_0000007-GENCC_100002"	"HGNC:13635"	"PLVAP"	"MONDO:0032586"	"diarrhea 10, protein-losing enteropathy type"	"OMIM:618183"	"Diarrhea 10, protein-losing enteropathy type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13635"	"PLVAP"	"OMIM:618183"	"diarrhea 10, protein-losing enteropathy type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"22782339, 26207260, 29661969, 31215290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLVAP0PLE"	"2023-11-30"
"GENCC_000106-HGNC_9117-OMIM_618279-HP_0000006-GENCC_100002"	"HGNC:9117"	"PMP2"	"MONDO:0033135"	"Charcot-Marie-Tooth disease, demyelinating, type 1G"	"OMIM:618279"	"Charcot-Marie-Tooth disease, demyelinating, type 1G"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9117"	"PMP2"	"OMIM:618279"	"Charcot-Marie-Tooth disease, demyelinating, type 1G"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:32"	""	""	"20301384, 24849898, 26257172, 26828946, 27009151, 30249361, 31412900, 32277537"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMP20CMT"	"2023-11-30"
"GENCC_000106-HGNC_9119-OMIM_617954-HP_0000007-GENCC_100002"	"HGNC:9119"	"PMPCB"	"MONDO:0054785"	"multiple mitochondrial dysfunctions syndrome 6"	"OMIM:617954"	"Multiple mitochondrial dysfunctions syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9119"	"PMPCB"	"OMIM:617954"	"multiple mitochondrial dysfunctions syndrome 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"1920328, 29576218"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMPCB0MMdys"	"2023-11-30"
"GENCC_000106-HGNC_21246-OMIM_615024-HP_0000007-GENCC_100002"	"HGNC:21246"	"PNPLA1"	"MONDO:0014011"	"autosomal recessive congenital ichthyosis 10"	"OMIM:615024"	"Ichthyosis, congenital, autosomal recessive 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21246"	"PNPLA1"	"OMIM:615024"	"autosomal recessive congenital ichthyosis 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 21:34:23"	""	""	"22246504, 24344921, 26691440, 27025581, 28093717"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNPLA10Ichthyos"	"2023-11-30"
"GENCC_000106-HGNC_30836-OMIM_615973-HP_0000007-GENCC_100002"	"HGNC:30836"	"POC1B"	"MONDO:0014427"	"cone-rod dystrophy 20"	"OMIM:615973"	"Cone-rod dystrophy 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30836"	"POC1B"	"OMIM:615973"	"cone-rod dystrophy 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-03 20:11:09"	""	""	"20008567, 24945461, 25018096, 25044745, 29220607"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POC1B0ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_14988-OMIM_615327-HP_0000006-GENCC_100002"	"HGNC:14988"	"POFUT1"	"MONDO:0014130"	"Dowling-Degos disease 2"	"OMIM:615327"	"Dowling-Degos disease 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14988"	"POFUT1"	"OMIM:615327"	"Dowling-Degos disease 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:33:20"	""	""	"23684010, 25229252, 25639155"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POFUT10DowlingDegos"	"2023-11-30"
"GENCC_000106-HGNC_20422-OMIM_613717-HP_0000006-GENCC_100002"	"HGNC:20422"	"POLR1D"	"MONDO:0013385"	"Treacher Collins syndrome 2"	"OMIM:613717"	"Treacher Collins syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20422"	"POLR1D"	"OMIM:613717"	"Treacher Collins syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"21131976, 24603435, 25790162"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR1D0TreacherCollins"	"2023-11-30"
"GENCC_000106-HGNC_30348-OMIM_614381-HP_0000007-GENCC_100002"	"HGNC:30348"	"POLR3B"	"MONDO:0013722"	"hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"	"OMIM:614381"	"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30348"	"POLR3B"	"OMIM:614381"	"hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 15:25:53"	""	""	"22036172, 25339210"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR3B0Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_9201-OMIM_609734-HP_0000007-GENCC_100002"	"HGNC:9201"	"POMC"	"MONDO:0012335"	"obesity due to pro-opiomelanocortin deficiency"	"OMIM:609734"	"Obesity, adrenal insufficiency, and red hair due to POMC deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9201"	"POMC"	"OMIM:609734"	"obesity due to pro-opiomelanocortin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 16:43:59"	""	""	"10470087, 10652501, 16936203, 18765507, 21860632, 22570972"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMC0POMCdef"	"2023-11-30"
"GENCC_000106-HGNC_30129-OMIM_617396-HP_0000007-GENCC_100002"	"HGNC:30129"	"POP1"	"MONDO:0054561"	"anauxetic dysplasia 2"	"OMIM:617396"	"Anauxetic dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30129"	"POP1"	"OMIM:617396"	"anauxetic dysplasia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-19 08:24:42"	""	""	"21455487, 27380734, 28067412, 282220, 282802"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POP10CHH0ADDspect"	"2023-11-30"
"GENCC_000106-HGNC_28883-OMIM_617222-HP_0000007-GENCC_100002"	"HGNC:28883"	"PPA2"	"MONDO:0014973"	"sudden cardiac failure, infantile"	"OMIM:617222"	"Sudden cardiac failure, infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28883"	"PPA2"	"OMIM:617222"	"sudden cardiac failure, infantile"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-30 04:47:15"	""	""	"242228, 27186301, 27523597, 27523598"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPA20Cardio - SCD"	"2023-11-30"
"GENCC_000106-HGNC_9255-OMIM_259440-HP_0000007-GENCC_100002"	"HGNC:9255"	"PPIB"	"MONDO:0009805"	"osteogenesis imperfecta type 9"	"OMIM:259440"	"Osteogenesis imperfecta, type IX"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9255"	"PPIB"	"OMIM:259440"	"osteogenesis imperfecta type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-17 13:13:15"	""	""	"19781681, 19997487, 20089953, 21239989, 21282188, 22718341, 24968150, 27509835, 28116328, 28242392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPIB0OI"	"2023-11-30"
"GENCC_000106-HGNC_32528-OMIM_610599-HP_0000007-GENCC_100002"	"HGNC:32528"	"PRCD"	"MONDO:0012523"	"retinitis pigmentosa 36"	"OMIM:610599"	"Retinitis pigmentosa 36"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32528"	"PRCD"	"OMIM:610599"	"retinitis pigmentosa 36"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-23 11:44:49"	""	""	"16938425, 20507925, 23661369, 23805042, 26497376, 28181551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRCD0RP"	"2023-11-30"
"GENCC_000106-HGNC_13997-OMIM_616488-HP_0000007-GENCC_100002"	"HGNC:13997"	"PRDM12"	"MONDO:0014662"	"congenital insensitivity to pain-hypohidrosis syndrome"	"OMIM:616488"	"Neuropathy, hereditary sensory and autonomic, type VIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13997"	"PRDM12"	"OMIM:616488"	"congenital insensitivity to pain-hypohidrosis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-23 15:19:14"	""	""	"25891934, 26005867, 28050684"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDM120HSAN"	"2023-11-30"
"GENCC_000106-HGNC_9402-OMIM_605361-HP_0000006-GENCC_100002"	"HGNC:9402"	"PRKCG"	"MONDO:0011540"	"spinocerebellar ataxia type 14"	"OMIM:605361"	"Spinocerebellar ataxia 14"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9402"	"PRKCG"	"OMIM:605361"	"spinocerebellar ataxia type 14"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 12:36:58"	""	""	"12644968, 15618281, 15964845, 16193476, 17024314, 18577575, 18986758, 20301573, 8269510, 8548809"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKCG0SCAR"	"2023-11-30"
"GENCC_000106-HGNC_9413-OMIM_615966-HP_0000007-GENCC_100002"	"HGNC:9413"	"PRKDC"	"MONDO:0014423"	"severe combined immunodeficiency due to DNA-PKcs deficiency"	"OMIM:615966"	"Immunodeficiency 26, with or without neurologic abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9413"	"PRKDC"	"OMIM:615966"	"severe combined immunodeficiency due to DNA-PKcs deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"19075392, 23722905, 25842288, 9122213"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKDC0SCID"	"2023-11-30"
"GENCC_000106-HGNC_9453-OMIM_239500-HP_0000007-GENCC_100002"	"HGNC:9453"	"PRODH"	"MONDO:0009400"	"hyperprolinemia type 1"	"OMIM:239500"	"Hyperprolinemia, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9453"	"PRODH"	"OMIM:239500"	"hyperprolinemia type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 09:22:30"	""	""	"10192398, 12217952, 12525555, 15662599, 19736351, 20524212, 23462603, 26978485, 28202261, 28851938, 5031477"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRODH0Hyperprolin"	"2023-11-30"
"GENCC_000106-HGNC_9455-OMIM_262600-HP_0000007-GENCC_100002"	"HGNC:9455"	"PROP1"	"MONDO:0009878"	"pituitary hormone deficiency, combined, 2"	"OMIM:262600"	"Pituitary hormone deficiency, combined, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9455"	"PROP1"	"OMIM:262600"	"pituitary hormone deficiency, combined, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 00:33:58"	""	""	"15472232, 15531542, 26147833, 9462723, 9462743, 9745452"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROP10PituitaryDef"	"2023-11-30"
"GENCC_000106-HGNC_17348-OMIM_601414-HP_0000006-GENCC_100002"	"HGNC:17348"	"PRPF3"	"MONDO:0011075"	"retinitis pigmentosa 18"	"OMIM:601414"	"Retinitis pigmentosa 18"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17348"	"PRPF3"	"OMIM:601414"	"retinitis pigmentosa 18"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:23"	""	""	"11773002, 15085354, 17932117, 18552388, 20309403, 21378395, 25111227, 32531858, 35138024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPF30RP"	"2023-11-30"
"GENCC_000106-HGNC_15446-OMIM_600138-HP_0000006-GENCC_100002"	"HGNC:15446"	"PRPF31"	"MONDO:0010828"	"retinitis pigmentosa 11"	"OMIM:600138"	"Retinitis pigmentosa 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15446"	"PRPF31"	"OMIM:600138"	"retinitis pigmentosa 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 16:03:04"	""	""	"11545739, 16799052, 18317597, 20939871, 22334370, 23950152, 24154662, 24265693, 30582903"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPF310RP"	"2023-11-30"
"GENCC_000106-HGNC_17349-OMIM_615922-HP_0000006-GENCC_100002"	"HGNC:17349"	"PRPF4"	"MONDO:0014400"	"retinitis pigmentosa 70"	"OMIM:615922"	"Retinitis pigmentosa 70"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17349"	"PRPF4"	"OMIM:615922"	"retinitis pigmentosa 70"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:23"	""	""	"24419317, 25383878"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPF40RP"	"2023-11-30"
"GENCC_000106-HGNC_39433-OMIM_613517-HP_0000007-GENCC_100002"	"HGNC:39433"	"PRSS56"	"MONDO:0013293"	"isolated microphthalmia 6"	"OMIM:613517"	"Microphthalmia, isolated 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:39433"	"PRSS56"	"OMIM:613517"	"isolated microphthalmia 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-03 21:06:41"	""	""	"153056, 21397065, 21850159, 22908982, 29529029, 31266062, 31992737, 32152063"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRSS560Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_9580-OMIM_604416-HP_0000006-GENCC_100002"	"HGNC:9580"	"PSTPIP1"	"MONDO:0011462"	"pyogenic arthritis-pyoderma gangrenosum-acne syndrome"	"OMIM:604416"	"Pyogenic sterile arthritis, pyoderma gangrenosum, and acne"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9580"	"PSTPIP1"	"OMIM:604416"	"pyogenic arthritis-pyoderma gangrenosum-acne syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-11 04:08:15"	""	""	"10729114, 11971877, 21532836, 22161697, 26025129, 27106250, 27184502, 28233293, 9212761"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSTPIP10PAPA"	"2023-11-30"
"GENCC_000106-HGNC_26392-OMIM_300830-HP_0001417-GENCC_100002"	"HGNC:26392"	"PTCHD1"	"MONDO:0010440"	"autism, susceptibility to, X-linked 4"	"OMIM:300830"	"{Autism, susceptibility to, X-linked 4}"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:26392"	"PTCHD1"	"OMIM:300830"	"autism, susceptibility to, X-linked 4"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-22 19:27:15"	""	""	"20844286, 21091464, 25131214, 25782667"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTCHD10ASD"	"2023-11-30"
"GENCC_000106-HGNC_9607-OMIM_613382-HP_0000006-GENCC_100002"	"HGNC:9607"	"PTHLH"	"MONDO:0013244"	"brachydactyly type E2"	"OMIM:613382"	"Brachydactyly, type E2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9607"	"PTHLH"	"OMIM:613382"	"brachydactyly type E2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:15:04"	""	""	"10449432, 11994406, 20170896, 26640227, 26763883, 8662546, 9751753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTHLH0Brachydactyly"	"2023-11-30"
"GENCC_000106-HGNC_9666-OMIM_608971-HP_0000007-GENCC_100002"	"HGNC:9666"	"PTPRC"	"MONDO:0012163"	"immunodeficiency 104"	"OMIM:608971"	"Immunodeficiency 104, severe combined"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9666"	"PTPRC"	"OMIM:608971"	"immunodeficiency 104"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 21:04:19"	""	""	"10700239, 11145714, 22689986, 8334701, 8666928, 9068311"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPRC0SCID"	"2023-11-30"
"GENCC_000106-HGNC_9670-OMIM_616001-HP_0000007-GENCC_100002"	"HGNC:9670"	"PTPRF"	"MONDO:0014450"	"breasts and/or nipples, aplasia or hypoplasia of, 2"	"OMIM:616001"	"?Breasts and/or nipples, aplasia or hypoplasia of, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9670"	"PTPRF"	"OMIM:616001"	"breasts and/or nipples, aplasia or hypoplasia of, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"23409019, 24781087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPRF0?Breasts"	"2023-11-30"
"GENCC_000106-HGNC_9725-OMIM_232700-HP_0000007-GENCC_100002"	"HGNC:9725"	"PYGL"	"MONDO:0009294"	"glycogen storage disease VI"	"OMIM:232700"	"Glycogen storage disease VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9725"	"PYGL"	"OMIM:232700"	"glycogen storage disease VI"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 07:42:48"	""	""	"21646031, 9529348, 9536091"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PYGL0GSD"	"2023-11-30"
"GENCC_000106-HGNC_9726-OMIM_232600-HP_0000007-GENCC_100002"	"HGNC:9726"	"PYGM"	"MONDO:0009293"	"glycogen storage disease V"	"OMIM:232600"	"McArdle disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9726"	"PYGM"	"OMIM:232600"	"glycogen storage disease V"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-23 22:29:17"	""	""	"11706962, 16786513, 22250184, 22730558, 8316268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PYGM0GSD"	"2023-11-30"
"GENCC_000106-HGNC_25326-OMIM_618341-HP_0000007-GENCC_100002"	"HGNC:25326"	"QRICH2"	"MONDO:0032686"	"spermatogenic failure 35"	"OMIM:618341"	"Spermatogenic failure 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25326"	"QRICH2"	"OMIM:618341"	"spermatogenic failure 35"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"30683861"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"QRICH20MMAF"	"2023-11-30"
"GENCC_000106-HGNC_21020-OMIM_618835-HP_0000007-GENCC_100002"	"HGNC:21020"	"QRSL1"	"MONDO:0030006"	"combined oxidative phosphorylation deficiency 40"	"OMIM:618835"	"Combined oxidative phosphorylation deficiency 40"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21020"	"QRSL1"	"OMIM:618835"	"combined oxidative phosphorylation deficiency 40"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:19:42"	""	""	"26741492, 29440775, 30283131, 35894854"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"QRSL10OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_14244-OMIM_614222-HP_0000007-GENCC_100002"	"HGNC:14244"	"RAB18"	"MONDO:0013638"	"Warburg micro syndrome 3"	"OMIM:614222"	"Warburg micro syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14244"	"RAB18"	"OMIM:614222"	"Warburg micro syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:54"	""	""	"21473985, 23420520"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB180WarburgMicro"	"2023-11-30"
"GENCC_000106-HGNC_9766-OMIM_607624-HP_0000007-GENCC_100002"	"HGNC:9766"	"RAB27A"	"MONDO:0011872"	"Griscelli syndrome type 2"	"OMIM:607624"	"Griscelli syndrome, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9766"	"RAB27A"	"OMIM:607624"	"Griscelli syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:10:11"	""	""	"10835631, 10859366, 18991284, 23160464"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB27A0Griscelli"	"2023-11-30"
"GENCC_000106-HGNC_9768-OMIM_615374-HP_0000007-GENCC_100002"	"HGNC:9768"	"RAB28"	"MONDO:0014153"	"cone-rod dystrophy 18"	"OMIM:615374"	"Cone-rod dystrophy 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9768"	"RAB28"	"OMIM:615374"	"cone-rod dystrophy 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23746546, 25356532, 27529348, 28388261"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB280ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_9788-OMIM_600882-HP_0000006-GENCC_100002"	"HGNC:9788"	"RAB7A"	"MONDO:0010949"	"Charcot-Marie-Tooth disease type 2B"	"OMIM:600882"	"Charcot-Marie-Tooth disease, type 2B"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9788"	"RAB7A"	"OMIM:600882"	"Charcot-Marie-Tooth disease type 2B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:34"	""	""	"105068, 10636124, 11094113, 12545426, 15455439, 19392663, 20028791, 23188822, 26791407, 7573046"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB7A0CMT"	"2023-11-30"
"GENCC_000106-HGNC_9848-OMIM_608033-HP_0000006-GENCC_100002"	"HGNC:9848"	"RANBP2"	"MONDO:0011953"	"familial acute necrotizing encephalopathy"	"OMIM:608033"	"{Encephalopathy, acute, infection-induced, 3, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9848"	"RANBP2"	"OMIM:608033"	"familial acute necrotizing encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 17:45:18"	""	""	"19118815, 19811512, 24321870, 25128471, 25522933, 36029610"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RANBP20Encephalopathy"	"2023-11-30"
"GENCC_000106-HGNC_21406-OMIM_611523-HP_0000007-GENCC_100002"	"HGNC:21406"	"RARS2"	"MONDO:0012683"	"pontocerebellar hypoplasia type 6"	"OMIM:611523"	"Pontocerebellar hypoplasia, type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21406"	"RARS2"	"OMIM:611523"	"pontocerebellar hypoplasia type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-26 16:46:23"	""	""	"17847012, 20635367, 20952379, 22569581, 26083569, 27683254"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RARS20PCH"	"2023-11-30"
"GENCC_000106-HGNC_9921-OMIM_615233-HP_0000007-GENCC_100002"	"HGNC:9921"	"RBP3"	"MONDO:0014093"	"retinitis pigmentosa 66"	"OMIM:615233"	"?Retinitis pigmentosa 66"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9921"	"RBP3"	"OMIM:615233"	"retinitis pigmentosa 66"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 10:07:02"	""	""	"19074801, 23105016, 23486466, 25766589, 26835369, 9614228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBP30RP"	"2023-11-30"
"GENCC_000106-HGNC_19689-OMIM_610612-HP_0000007-GENCC_100002"	"HGNC:19689"	"RD3"	"MONDO:0012525"	"Leber congenital amaurosis 12"	"OMIM:610612"	"Leber congenital amaurosis 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19689"	"RD3"	"OMIM:610612"	"Leber congenital amaurosis 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 17:24:09"	""	""	"22531706, 23308101, 30576320"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RD30Leber"	"2023-11-30"
"GENCC_000106-HGNC_30078-OMIM_617304-HP_0000007-GENCC_100002"	"HGNC:30078"	"REEP6"	"MONDO:0015013"	"retinitis pigmentosa 77"	"OMIM:617304"	"Retinitis pigmentosa 77"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30078"	"REEP6"	"OMIM:617304"	"retinitis pigmentosa 77"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-03 18:24:53"	""	""	"24691551, 27889058, 28369466, 28475715, 29120066"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REEP60RP"	"2023-11-30"
"GENCC_000106-HGNC_18750-OMIM_613075-HP_0000007-GENCC_100002"	"HGNC:18750"	"RIN2"	"MONDO:0013115"	"RIN2 syndrome"	"OMIM:613075"	"Macrocephaly, alopecia, cutis laxa, and scoliosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18750"	"RIN2"	"OMIM:613075"	"RIN2 syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-21 11:25:24"	""	""	"19631308, 20424861, 20954239, 24449201, 27277385"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RIN20Macrocep02"	"2023-11-30"
"GENCC_000106-HGNC_21390-OMIM_616566-HP_0000007-GENCC_100002"	"HGNC:21390"	"RIPPLY2"	"MONDO:0014694"	"spondylocostal dysostosis 6, autosomal recessive"	"OMIM:616566"	"?Spondylocostal dysostosis 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21390"	"RIPPLY2"	"OMIM:616566"	"spondylocostal dysostosis 6, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"INVITAE"	"GENCC:100002"	"STRONG"	"2019-12-20 00:00:00"	""	""	"26238661, 25343988, 30420309, 17360776"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/513"	"RIPPLY20Spondylocostal"	"2021-05-25"
"GENCC_000106-HGNC_18466-OMIM_616479-HP_0000007-GENCC_100002"	"HGNC:18466"	"RNASEH1"	"MONDO:0014656"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2"	"OMIM:616479"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18466"	"RNASEH1"	"OMIM:616479"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"12667461, 26094573"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNASEH10PEO"	"2023-11-30"
"GENCC_000106-HGNC_18518-OMIM_610333-HP_0000007-GENCC_100002"	"HGNC:18518"	"RNASEH2A"	"MONDO:0012472"	"Aicardi-Goutieres syndrome 4"	"OMIM:610333"	"Aicardi-Goutieres syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18518"	"RNASEH2A"	"OMIM:610333"	"Aicardi-Goutieres syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"16845400, 17846997, 21454563, 25274781, 25604658"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNASEH2A0AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_24116-OMIM_610329-HP_0000007-GENCC_100002"	"HGNC:24116"	"RNASEH2C"	"MONDO:0012471"	"Aicardi-Goutieres syndrome 3"	"OMIM:610329"	"Aicardi-Goutieres syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24116"	"RNASEH2C"	"OMIM:610329"	"Aicardi-Goutieres syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-24 18:28:48"	""	""	"16845400, 17846997, 19034401, 23322642, 51519581"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNASEH2C0AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_21686-OMIM_612951-HP_0000007-GENCC_100002"	"HGNC:21686"	"RNASET2"	"MONDO:0013058"	"cystic leukoencephalopathy without megalencephaly"	"OMIM:612951"	"Leukoencephalopathy, cystic, without megalencephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21686"	"RNASET2"	"OMIM:612951"	"cystic leukoencephalopathy without megalencephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"19525954, 25044680, 27091087, 29336640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNASET20CysticLeuk"	"2023-11-30"
"GENCC_000106-HGNC_29478-OMIM_226750-HP_0000007-GENCC_100002"	"HGNC:29478"	"ROGDI"	"MONDO:0009185"	"amelocerebrohypohidrotic syndrome"	"OMIM:226750"	"Kohlschutter-Tonz syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29478"	"ROGDI"	"OMIM:226750"	"amelocerebrohypohidrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 18:45:54"	""	""	"22424600, 23086778"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROGDI0Kohlschutter"	"2023-11-30"
"GENCC_000106-HGNC_10274-OMIM_312600-HP_0001417-GENCC_100002"	"HGNC:10274"	"RP2"	"MONDO:0010723"	"retinitis pigmentosa 2"	"OMIM:312600"	"Retinitis pigmentosa 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10274"	"RP2"	"OMIM:312600"	"retinitis pigmentosa 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 17:38:23"	""	""	"10937588, 11462235, 11992260, 20625056, 23745007"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RP20RP"	"2023-11-30"
"GENCC_000106-HGNC_10301-OMIM_612562-HP_0000006-GENCC_100002"	"HGNC:10301"	"RPL11"	"MONDO:0012938"	"Diamond-Blackfan anemia 7"	"OMIM:612562"	"Diamond-Blackfan anemia 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10301"	"RPL11"	"OMIM:612562"	"Diamond-Blackfan anemia 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-19 13:02:35"	""	""	"19061985, 19773262"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL110DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10306-OMIM_615550-HP_0000006-GENCC_100002"	"HGNC:10306"	"RPL15"	"MONDO:0014245"	"Diamond-Blackfan anemia 12"	"OMIM:615550"	"Diamond-Blackfan anemia 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10306"	"RPL15"	"OMIM:615550"	"Diamond-Blackfan anemia 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 14:55:04"	""	""	"23812780, 25042156, 29599205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL150DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10327-OMIM_614900-HP_0000006-GENCC_100002"	"HGNC:10327"	"RPL26"	"MONDO:0013964"	"Diamond-Blackfan anemia 11"	"OMIM:614900"	"?Diamond-Blackfan anemia 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10327"	"RPL26"	"OMIM:614900"	"Diamond-Blackfan anemia 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 14:54:28"	""	""	"22431104"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL260DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10345-OMIM_612528-HP_0000006-GENCC_100002"	"HGNC:10345"	"RPL35A"	"MONDO:0012925"	"Diamond-Blackfan anemia 5"	"OMIM:612528"	"Diamond-Blackfan anemia 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10345"	"RPL35A"	"OMIM:612528"	"Diamond-Blackfan anemia 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:25"	""	""	"18535205, 25946618"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL35A0DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10360-OMIM_612561-HP_0000006-GENCC_100002"	"HGNC:10360"	"RPL5"	"MONDO:0012937"	"Diamond-Blackfan anemia 6"	"OMIM:612561"	"Diamond-Blackfan anemia 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10360"	"RPL5"	"OMIM:612561"	"Diamond-Blackfan anemia 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-18 09:45:28"	""	""	"19061985, 19773262"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL50DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10414-OMIM_613309-HP_0000006-GENCC_100002"	"HGNC:10414"	"RPS26"	"MONDO:0013217"	"Diamond-Blackfan anemia 10"	"OMIM:613309"	"Diamond-Blackfan anemia 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10414"	"RPS26"	"OMIM:613309"	"Diamond-Blackfan anemia 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:25"	""	""	"20116044, 23718193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS260DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10440-OMIM_612563-HP_0000006-GENCC_100002"	"HGNC:10440"	"RPS7"	"MONDO:0012939"	"Diamond-Blackfan anemia 8"	"OMIM:612563"	"Diamond-Blackfan anemia 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10440"	"RPS7"	"OMIM:612563"	"Diamond-Blackfan anemia 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 13:53:22"	""	""	"23718193, 25424902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS70DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_12371-OMIM_615481-HP_0000007-GENCC_100002"	"HGNC:12371"	"RSPH1"	"MONDO:0014202"	"primary ciliary dyskinesia 24"	"OMIM:615481"	"Ciliary dyskinesia, primary, 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12371"	"RSPH1"	"OMIM:615481"	"primary ciliary dyskinesia 24"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23993197"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSPH10PCD"	"2023-11-30"
"GENCC_000106-HGNC_21054-OMIM_616481-HP_0000007-GENCC_100002"	"HGNC:21054"	"RSPH3"	"MONDO:0014657"	"primary ciliary dyskinesia 32"	"OMIM:616481"	"Ciliary dyskinesia, primary, 32"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21054"	"RSPH3"	"OMIM:616481"	"primary ciliary dyskinesia 32"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:54:57"	""	""	"26073779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSPH30PCD"	"2023-11-30"
"GENCC_000106-HGNC_21558-OMIM_612649-HP_0000007-GENCC_100002"	"HGNC:21558"	"RSPH4A"	"MONDO:0012978"	"primary ciliary dyskinesia 11"	"OMIM:612649"	"Ciliary dyskinesia, primary, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21558"	"RSPH4A"	"OMIM:612649"	"primary ciliary dyskinesia 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"19200523, 23993197"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSPH4A0PCD"	"2023-11-30"
"GENCC_000106-HGNC_21057-OMIM_612650-HP_0000007-GENCC_100002"	"HGNC:21057"	"RSPH9"	"MONDO:0012979"	"primary ciliary dyskinesia 12"	"OMIM:612650"	"Ciliary dyskinesia, primary, 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21057"	"RSPH9"	"OMIM:612650"	"primary ciliary dyskinesia 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-11-01 00:49:48"	""	""	"23993197, 25789548"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSPH90PCD"	"2023-11-30"
"GENCC_000106-HGNC_21679-OMIM_610644-HP_0000007-GENCC_100002"	"HGNC:21679"	"RSPO1"	"MONDO:0012530"	"palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"	"OMIM:610644"	"Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21679"	"RSPO1"	"OMIM:610644"	"palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"17041600, 18085567, 29575617"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSPO10Palmoplantar"	"2023-11-30"
"GENCC_000106-HGNC_29420-OMIM_616723-HP_0000007-GENCC_100002"	"HGNC:29420"	"RSPRY1"	"MONDO:0014748"	"progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"	"OMIM:616723"	"Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29420"	"RSPRY1"	"OMIM:616723"	"progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"26365341, 30063090, 57238691"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSPRY10SEMDys"	"2023-11-30"
"GENCC_000106-HGNC_10468-OMIM_604805-HP_0000006-GENCC_100002"	"HGNC:10468"	"RTN2"	"MONDO:0011489"	"hereditary spastic paraplegia 12"	"OMIM:604805"	"Spastic paraplegia 12, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10468"	"RTN2"	"OMIM:604805"	"hereditary spastic paraplegia 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-18 14:12:31"	""	""	"12427890, 22232211, 27165006"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RTN20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_18647-OMIM_616732-HP_0000007-GENCC_100002"	"HGNC:18647"	"RTN4IP1"	"MONDO:0020737"	"optic atrophy 10 with or without ataxia, intellectual disability, and seizures"	"OMIM:616732"	"Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18647"	"RTN4IP1"	"OMIM:616732"	"optic atrophy 10 with or without ataxia, intellectual disability, and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-19 12:00:45"	""	""	"121304, 26593267, 29181510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RTN4IP10OpticAtroph"	"2023-11-30"
"GENCC_000106-HGNC_23625-OMIM_617773-HP_0000007-GENCC_100002"	"HGNC:23625"	"RUSC2"	"MONDO:0030915"	"intellectual disability, autosomal recessive 61"	"OMIM:617773"	"Intellectual developmental disorder, autosomal recessive 61"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23625"	"RUSC2"	"OMIM:617773"	"intellectual disability, autosomal recessive 61"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:05"	""	""	"27612186"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RUSC20MRR"	"2023-11-30"
"GENCC_000106-HGNC_10603-OMIM_619048-HP_0000007-GENCC_100002"	"HGNC:10603"	"SCO1"	"MONDO:0033636"	"mitochondrial complex 4 deficiency, nuclear type 4"	"OMIM:619048"	"Mitochondrial complex IV deficiency, nuclear type 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10603"	"SCO1"	"OMIM:619048"	"mitochondrial complex 4 deficiency, nuclear type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-19 12:54:38"	""	""	"106362, 11013136, 19295170, 23878101, 25683716"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCO10MC4def"	"2023-11-30"
"GENCC_000106-HGNC_26034-OMIM_601650-HP_0000006-GENCC_100002"	"HGNC:26034"	"SDHAF2"	"MONDO:0011121"	"paragangliomas 2"	"OMIM:601650"	"Pheochromocytoma/paraganglioma syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26034"	"SDHAF2"	"OMIM:601650"	"paragangliomas 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:26"	""	""	"19628817, 20071235, 21224366, 21752896, 22241717, 24893135, 26096992, 28099933, 28384794, 30050099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHAF20PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_30972-OMIM_609698-HP_0000007-GENCC_100002"	"HGNC:30972"	"SECISBP2"	"MONDO:0800046"	"thyroid hormone metabolism, abnormal 1"	"OMIM:609698"	"Thyroid hormone metabolism, abnormal, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30972"	"SECISBP2"	"OMIM:609698"	"short stature-delayed bone age due to thyroid hormone metabolism deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-05 09:21:27"	""	""	"16228000, 19602558"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SECISBP20ThyroidHorm"	"2023-11-30"
"GENCC_000106-HGNC_30605-OMIM_613811-HP_0000007-GENCC_100002"	"HGNC:30605"	"SEPSECS"	"MONDO:0013438"	"pontocerebellar hypoplasia type 2D"	"OMIM:613811"	"Pontocerebellar hypoplasia type 2D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30605"	"SEPSECS"	"OMIM:613811"	"pontocerebellar hypoplasia type 2D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 04:39:43"	""	""	"20920667, 25558065, 25590979, 26115735, 26805434, 26888482"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEPSECS0PCH"	"2023-11-30"
"GENCC_000106-HGNC_8950-OMIM_613453-HP_0000007-GENCC_100002"	"HGNC:8950"	"SERPINB6"	"MONDO:0013269"	"autosomal recessive nonsyndromic hearing loss 91"	"OMIM:613453"	"?Deafness, autosomal recessive 91"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8950"	"SERPINB6"	"OMIM:613453"	"autosomal recessive nonsyndromic hearing loss 91"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"20451170, 21117948, 23669344, 25719458, 25817395"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINB60Deafness"	"2023-11-30"
"GENCC_000106-HGNC_8583-OMIM_613329-HP_0000007-GENCC_100002"	"HGNC:8583"	"SERPINE1"	"MONDO:0013227"	"congenital plasminogen activator inhibitor type 1 deficiency"	"OMIM:613329"	"Plasminogen activator inhibitor-1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8583"	"SERPINE1"	"OMIM:613329"	"congenital plasminogen activator inhibitor type 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-28 19:35:26"	""	""	"10754381, 1435917, 21486382, 28229167, 29152572, 9207454"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINE10Plasmino"	"2023-11-30"
"GENCC_000106-HGNC_8824-OMIM_613982-HP_0000007-GENCC_100002"	"HGNC:8824"	"SERPINF1"	"MONDO:0013515"	"osteogenesis imperfecta type 6"	"OMIM:613982"	"Osteogenesis imperfecta, type VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8824"	"SERPINF1"	"OMIM:613982"	"osteogenesis imperfecta type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-18 05:14:25"	""	""	"21353196, 21826736, 23054245, 23413146, 23499310, 23613367, 25450603, 28689307"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINF10OI"	"2023-11-30"
"GENCC_000106-HGNC_8943-OMIM_604218-HP_0000006-GENCC_100002"	"HGNC:8943"	"SERPINI1"	"MONDO:0011412"	"familial encephalopathy with neuroserpin inclusion bodies"	"OMIM:604218"	"Encephalopathy, familial, with neuroserpin inclusion bodies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8943"	"SERPINI1"	"OMIM:604218"	"familial encephalopathy with neuroserpin inclusion bodies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 22:20:53"	""	""	"12103288, 18940798, 19549782, 23814041, 25401298"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINI10Encephalopathy"	"2023-11-30"
"GENCC_000106-HGNC_10771-OMIM_154400-HP_0000006-GENCC_100002"	"HGNC:10771"	"SF3B4"	"MONDO:0007943"	"Nager acrofacial dysostosis"	"OMIM:154400"	"Acrofacial dysostosis 1, Nager type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10771"	"SF3B4"	"OMIM:154400"	"Nager acrofacial dysostosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 12:56:04"	""	""	"22541558, 23568615, 31502745, 3262786"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SF3B40AFD"	"2023-11-30"
"GENCC_000106-HGNC_10818-OMIM_252900-HP_0000007-GENCC_100002"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"OMIM:252900"	"Mucopolysaccharidosis type IIIA (Sanfilippo A)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10818"	"SGSH"	"OMIM:252900"	"mucopolysaccharidosis type 3A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:36:00"	""	""	"10601282, 11182930, 21204211, 22210669, 22976768, 25851924, 9158154, 9285796, 9554748"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SGSH0MPS0III"	"2023-11-30"
"GENCC_000106-HGNC_29427-OMIM_601596-HP_0000007-GENCC_100002"	"HGNC:29427"	"SH3TC2"	"MONDO:0011113"	"Charcot-Marie-Tooth disease type 4C"	"OMIM:601596"	"Charcot-Marie-Tooth disease, type 4C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29427"	"SH3TC2"	"OMIM:601596"	"Charcot-Marie-Tooth disease type 4C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-02 17:13:35"	""	""	"20220177, 20301514, 27068304, 8894708"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SH3TC20CMT"	"2023-11-30"
"GENCC_000106-HGNC_14295-OMIM_613436-HP_0000006-GENCC_100002"	"HGNC:14295"	"SHANK2"	"MONDO:0013265"	"autism, susceptibility to, 17"	"OMIM:613436"	"{Autism susceptibility 17}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14295"	"SHANK2"	"OMIM:613436"	"autism, susceptibility to, 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 08:43:34"	""	""	"20473310, 20531469, 21994763, 22346768, 22495306, 25188300, 25363768, 26350204, 27824329, 28554332, 32987185"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHANK20SHANK2-rel"	"2023-11-30"
"GENCC_000106-HGNC_10898-OMIM_614602-HP_0000007-GENCC_100002"	"HGNC:10898"	"SKIC2"	"MONDO:0013818"	"trichohepatoenteric syndrome 2"	"OMIM:614602"	"Trichohepatoenteric syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10898"	"SKIC2"	"OMIM:614602"	"trichohepatoenteric syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22444670, 23302111, 25714577"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SKIV2L0THE"	"2023-11-30"
"GENCC_000106-HGNC_23094-OMIM_612018-HP_0000006-GENCC_100002"	"HGNC:23094"	"SLC16A12"	"MONDO:0012786"	"juvenile cataract-microcornea-renal glucosuria syndrome"	"OMIM:612018"	"Cataract 47, juvenile, with microcornea"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23094"	"SLC16A12"	"OMIM:612018"	"juvenile cataract-microcornea-renal glucosuria syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:37"	""	""	"18304496, 20181839, 21778275, 23578822, 27307692, 27878435, 29088427"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC16A120Cataract"	"2023-11-30"
"GENCC_000106-HGNC_16266-OMIM_607483-HP_0000007-GENCC_100002"	"HGNC:16266"	"SLC19A3"	"MONDO:0011841"	"biotin-responsive basal ganglia disease"	"OMIM:607483"	"Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16266"	"SLC19A3"	"OMIM:607483"	"biotin-responsive basal ganglia disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-20 14:43:58"	""	""	"20065143, 23423671, 23482991, 24957181"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC19A30ThiamineMetab"	"2023-11-30"
"GENCC_000106-HGNC_17989-OMIM_220150-HP_0000007-GENCC_100002"	"HGNC:17989"	"SLC22A12"	"MONDO:0020728"	"hypouricemia, renal 1"	"OMIM:220150"	"Hypouricemia, renal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17989"	"SLC22A12"	"OMIM:220150"	"hypouricemia, renal 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 01:42:07"	""	""	"14694169, 16678460, 18492088"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC22A120Hypouric"	"2023-11-30"
"GENCC_000106-HGNC_10978-OMIM_615887-HP_0000007-GENCC_100002"	"HGNC:10978"	"SLC24A4"	"MONDO:0014385"	"amelogenesis imperfecta hypomaturation type 2A5"	"OMIM:615887"	"Amelogenesis imperfecta, type IIA5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10978"	"SLC24A4"	"OMIM:615887"	"amelogenesis imperfecta hypomaturation type 2A5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:53"	""	""	"23375655, 24532815, 24621671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC24A40AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_26054-OMIM_205950-HP_0000007-GENCC_100002"	"HGNC:26054"	"SLC25A38"	"MONDO:0008785"	"sideroblastic anemia 2"	"OMIM:205950"	"Anemia, sideroblastic, 2, pyridoxine-refractory"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26054"	"SLC25A38"	"OMIM:205950"	"sideroblastic anemia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-18 09:20:17"	""	""	"19412178, 21393332, 25985931"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A380SideroAnemPR"	"2023-11-30"
"GENCC_000106-HGNC_9359-OMIM_613865-HP_0000007-GENCC_100002"	"HGNC:9359"	"SLC26A5"	"MONDO:0013471"	"autosomal recessive nonsyndromic hearing loss 61"	"OMIM:613865"	"?Deafness, autosomal recessive 61"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9359"	"SLC26A5"	"OMIM:613865"	"autosomal recessive nonsyndromic hearing loss 61"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"103062016, 12239568, 12719379, 15207913, 15319415, 17786286, 21954035, 23212912, 24164807, 25262649, 26682723, 26824437, 27041369, 27232762"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC26A50Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11023-OMIM_615553-HP_0000007-GENCC_100002"	"HGNC:11023"	"SLC35A3"	"MONDO:0014248"	"autism spectrum disorder - epilepsy - arthrogryposis syndrome"	"OMIM:615553"	"Arthrogryposis, impaired intellectual development, and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11023"	"SLC35A3"	"OMIM:615553"	"autism spectrum disorder - epilepsy - arthrogryposis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"16344554, 24031089, 28328131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC35A30Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_32434-OMIM_609218-HP_0000007-GENCC_100002"	"HGNC:32434"	"SLC38A8"	"MONDO:0012216"	"foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"	"OMIM:609218"	"Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32434"	"SLC38A8"	"OMIM:609218"	"foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-29 09:09:21"	""	""	"24045842, 24290379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC38A80FovealHypo"	"2023-11-30"
"GENCC_000106-HGNC_20859-OMIM_612350-HP_0000007-GENCC_100002"	"HGNC:20859"	"SLC39A13"	"MONDO:0012873"	"Ehlers-Danlos syndrome, spondylocheirodysplastic type"	"OMIM:612350"	"Ehlers-Danlos syndrome, spondylodysplastic type, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20859"	"SLC39A13"	"OMIM:612350"	"Ehlers-Danlos syndrome, spondylocheirodysplastic type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-19 09:07:27"	""	""	"18513683, 18985159, 25007800, 251254, 29593477"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC39A130Spondylocheiro"	"2023-11-30"
"GENCC_000106-HGNC_10909-OMIM_606069-HP_0000006-GENCC_100002"	"HGNC:10909"	"SLC40A1"	"MONDO:0011631"	"hemochromatosis type 4"	"OMIM:606069"	"Hemochromatosis, type 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10909"	"SLC40A1"	"OMIM:606069"	"hemochromatosis type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-25 19:04:32"	""	""	"10471458, 11431687, 15692071, 15831700, 16440176, 18177470, 19709084, 20691492, 3662903"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC40A10HH"	"2023-11-30"
"GENCC_000106-HGNC_30521-OMIM_229050-HP_0000007-GENCC_100002"	"HGNC:30521"	"SLC46A1"	"MONDO:0009238"	"hereditary folate malabsorption"	"OMIM:229050"	"Folate malabsorption, hereditary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30521"	"SLC46A1"	"OMIM:229050"	"hereditary folate malabsorption"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-09 11:55:27"	""	""	"17446347, 20301716, 21333572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC46A10FolateMalabs"	"2023-11-30"
"GENCC_000106-HGNC_11040-OMIM_274400-HP_0000007-GENCC_100002"	"HGNC:11040"	"SLC5A5"	"MONDO:0020716"	"thyroid dyshormonogenesis 1"	"OMIM:274400"	"Thyroid dyshormonogenesis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11040"	"SLC5A5"	"OMIM:274400"	"familial thyroid dyshormonogenesis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-03 09:15:18"	""	""	"10902780, 21054210, 9388506, 9486973, 9745458, 9814502"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC5A50ThyroidDyshorm"	"2023-11-30"
"GENCC_000106-HGNC_11051-OMIM_614618-HP_0000007-GENCC_100002"	"HGNC:11051"	"SLC6A5"	"MONDO:0013827"	"hyperekplexia 3"	"OMIM:614618"	"Hyperekplexia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11051"	"SLC6A5"	"OMIM:614618"	"hyperekplexia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-23 15:08:35"	""	""	"14622583, 16751771, 16884688, 20301437, 21515498, 22700964"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC6A50Hyperekplexia"	"2023-11-30"
"GENCC_000106-HGNC_11056-OMIM_617301-HP_0000007-GENCC_100002"	"HGNC:11056"	"SLC6A9"	"MONDO:0015010"	"atypical glycine encephalopathy"	"OMIM:617301"	"Glycine encephalopathy with normal serum glycine"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11056"	"SLC6A9"	"OMIM:617301"	"atypical glycine encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-23 08:33:17"	""	""	"27481395, 27773429"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC6A90GlyEnceph"	"2023-11-30"
"GENCC_000106-HGNC_11073-OMIM_616868-HP_0000007-GENCC_100002"	"HGNC:11073"	"SLC9A3"	"MONDO:0014808"	"congenital secretory sodium diarrhea 8"	"OMIM:616868"	"Diarrhea 8, secretory sodium, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11073"	"SLC9A3"	"OMIM:616868"	"congenital secretory sodium diarrhea 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 18:22:06"	""	""	"26358773"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC9A30CongSodDiarrh"	"2023-11-30"
"GENCC_000106-HGNC_32689-OMIM_616913-HP_0000006-GENCC_100002"	"HGNC:32689"	"SLFN14"	"MONDO:0014830"	"platelet-type bleeding disorder 20"	"OMIM:616913"	"Bleeding disorder, platelet-type, 20"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:32689"	"SLFN14"	"OMIM:616913"	"platelet-type bleeding disorder 20"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-13 13:52:59"	""	""	"26280575, 26769223, 30431218, 31378119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLFN140Bleeding"	"2023-11-30"
"GENCC_000106-HGNC_18746-OMIM_248300-HP_0000007-GENCC_100002"	"HGNC:18746"	"SLURP1"	"MONDO:0009552"	"mal de Meleda"	"OMIM:248300"	"Meleda disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18746"	"SLURP1"	"OMIM:248300"	"mal de Meleda"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:07:15"	""	""	"11285253, 19692209"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLURP10MeledaDi"	"2023-11-30"
"GENCC_000106-HGNC_14974-OMIM_615085-HP_0000007-GENCC_100002"	"HGNC:14974"	"SNX10"	"MONDO:0014040"	"autosomal recessive osteopetrosis 8"	"OMIM:615085"	"Osteopetrosis, autosomal recessive 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14974"	"SNX10"	"OMIM:615085"	"autosomal recessive osteopetrosis 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-18 00:37:50"	""	""	"23123320, 23280965, 25811986"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNX100Osteopetrosis"	"2023-11-30"
"GENCC_000106-HGNC_11183-OMIM_617140-HP_0000006-GENCC_100002"	"HGNC:11183"	"SON"	"MONDO:0014936"	"ZTTK syndrome"	"OMIM:617140"	"ZTTK syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11183"	"SON"	"OMIM:617140"	"ZTTK syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-16 19:18:48"	""	""	"27545676, 27545680, 34331327, 34521999"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SON0ZTTKS"	"2023-11-30"
"GENCC_000106-HGNC_11188-OMIM_616559-HP_0000006-GENCC_100002"	"HGNC:11188"	"SOS2"	"MONDO:0014691"	"Noonan syndrome 9"	"OMIM:616559"	"Noonan syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11188"	"SOS2"	"OMIM:616559"	"Noonan syndrome 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-18 08:45:00"	""	""	"25795793, 26173643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOS20Noonan"	"2023-11-30"
"GENCC_000106-HGNC_11191-OMIM_615866-HP_0000006-GENCC_100002"	"HGNC:11191"	"SOX11"	"MONDO:0014376"	"intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"	"OMIM:615866"	"Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11191"	"SOX11"	"OMIM:615866"	"intellectual disability, autosomal dominant 27"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-14 18:33:46"	""	""	"24886874, 26543203, 33086258, 33785884, 35341651, 35938035, 36369738"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX110Coff"	"2023-11-30"
"GENCC_000106-HGNC_17321-OMIM_613849-HP_0000007-GENCC_100002"	"HGNC:17321"	"SP7"	"MONDO:0013460"	"osteogenesis imperfecta type 12"	"OMIM:613849"	"Osteogenesis imperfecta, type XII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17321"	"SP7"	"OMIM:613849"	"osteogenesis imperfecta type 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 12:52:43"	""	""	"11792318, 20579626, 29382611"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SP70OI"	"2023-11-30"
"GENCC_000106-HGNC_11212-OMIM_615505-HP_0000007-GENCC_100002"	"HGNC:11212"	"SPAG1"	"MONDO:0014216"	"primary ciliary dyskinesia 28"	"OMIM:615505"	"Ciliary dyskinesia, primary, 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11212"	"SPAG1"	"OMIM:615505"	"primary ciliary dyskinesia 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"24055112"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPAG10PCD"	"2023-11-30"
"GENCC_000106-HGNC_11233-OMIM_182601-HP_0000006-GENCC_100002"	"HGNC:11233"	"SPAST"	"MONDO:0008438"	"hereditary spastic paraplegia 4"	"OMIM:182601"	"Spastic paraplegia 4, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11233"	"SPAST"	"OMIM:182601"	"hereditary spastic paraplegia 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-25 21:02:46"	""	""	"10732810, 11809724, 16832076, 182601, 20932283, 7833913"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPAST0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_11278-OMIM_613640-HP_0000006-GENCC_100002"	"HGNC:11278"	"SPTLC2"	"MONDO:0013337"	"neuropathy, hereditary sensory and autonomic, type 1C"	"OMIM:613640"	"Neuropathy, hereditary sensory and autonomic, type IC"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11278"	"SPTLC2"	"OMIM:613640"	"neuropathy, hereditary sensory and autonomic, type 1C"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-11 00:26:26"	""	""	"20920666, 23658386, 24175284, 25567748, 26681808, 28902413, 30955194"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTLC20HSAN"	"2023-11-30"
"GENCC_000106-HGNC_11326-OMIM_300934-HP_0001417-GENCC_100002"	"HGNC:11326"	"SSR4"	"MONDO:0010490"	"SSR4-congenital disorder of glycosylation"	"OMIM:300934"	"Congenital disorder of glycosylation, type Iy"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11326"	"SSR4"	"OMIM:300934"	"SSR4-congenital disorder of glycosylation"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 16:42:21"	""	""	"24218363, 26264460"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SSR40CDG"	"2023-11-30"
"GENCC_000106-HGNC_11344-OMIM_602400-HP_0000007-GENCC_100002"	"HGNC:11344"	"ST14"	"MONDO:0011218"	"autosomal recessive congenital ichthyosis 11"	"OMIM:602400"	"Ichthyosis, congenital, autosomal recessive 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11344"	"ST14"	"OMIM:602400"	"autosomal recessive congenital ichthyosis 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:57:02"	""	""	"18843291, 25308318, 30982314"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ST140Ichthyos"	"2023-11-30"
"GENCC_000106-HGNC_10872-OMIM_609056-HP_0000007-GENCC_100002"	"HGNC:10872"	"ST3GAL5"	"MONDO:0018274"	"GM3 synthase deficiency"	"OMIM:609056"	"Salt and pepper developmental regression syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10872"	"ST3GAL5"	"OMIM:609056"	"Amish infantile epilepsy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-02 17:44:21"	""	""	"15502825, 17604219, 22990144, 23225753, 24026681, 27232954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ST3GAL50AIES0AmishEp"	"2023-11-30"
"GENCC_000106-HGNC_11359-OMIM_201710-HP_0000007-GENCC_100002"	"HGNC:11359"	"STAR"	"MONDO:0008725"	"congenital lipoid adrenal hyperplasia due to STAR deficency"	"OMIM:201710"	"Lipoid adrenal hyperplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11359"	"STAR"	"OMIM:201710"	"congenital lipoid adrenal hyperplasia due to STAR deficency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:39:37"	""	""	"1661294, 8948562"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STARCAH"	"2023-11-30"
"GENCC_000106-HGNC_10879-OMIM_612703-HP_0000007-GENCC_100002"	"HGNC:10879"	"STIL"	"MONDO:0012989"	"microcephaly 7, primary, autosomal recessive"	"OMIM:612703"	"Microcephaly 7, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10879"	"STIL"	"OMIM:612703"	"microcephaly 7, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-12 09:59:33"	""	""	"10385121, 19215732, 24485834, 24986681, 25218063, 26633542, 33132204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STIL0Seckel"	"2023-11-30"
"GENCC_000106-HGNC_30650-OMIM_601186-HP_0000007-GENCC_100002"	"HGNC:30650"	"STRA6"	"MONDO:0011010"	"Matthew-Wood syndrome"	"OMIM:601186"	"Microphthalmia, isolated, with coloboma 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30650"	"STRA6"	"OMIM:601186"	"Matthew-Wood syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-06 13:35:36"	""	""	"17273977, 19309693, 21901792, 25457163"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STRA60Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_30172-OMIM_611087-HP_0000007-GENCC_100002"	"HGNC:30172"	"STRADA"	"MONDO:0012611"	"polyhydramnios, megalencephaly, and symptomatic epilepsy"	"OMIM:611087"	"Polyhydramnios, megalencephaly, and symptomatic epilepsy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30172"	"STRADA"	"OMIM:611087"	"polyhydramnios, megalencephaly, and symptomatic epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-22 09:36:31"	""	""	"17522105, 27170158"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STRADA0Polyhydramnios"	"2023-11-30"
"GENCC_000106-HGNC_11425-OMIM_308100-HP_0001417-GENCC_100002"	"HGNC:11425"	"STS"	"MONDO:0010622"	"recessive X-linked ichthyosis"	"OMIM:308100"	"Ichthyosis, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11425"	"STS"	"OMIM:308100"	"recessive X-linked ichthyosis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 21:27:49"	""	""	"10844566, 21530180, 26762237, 9242515"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STS0Ichthyosis"	"2023-11-30"
"GENCC_000106-HGNC_11429-OMIM_603552-HP_0000007-GENCC_100002"	"HGNC:11429"	"STX11"	"MONDO:0011336"	"familial hemophagocytic lymphohistiocytosis 4"	"OMIM:603552"	"Hemophagocytic lymphohistiocytosis, familial, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11429"	"STX11"	"OMIM:603552"	"familial hemophagocytic lymphohistiocytosis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"15703195, 20486178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STX110HemophagLymph"	"2023-11-30"
"GENCC_000106-HGNC_18539-OMIM_616172-HP_0000006-GENCC_100002"	"HGNC:18539"	"STX1B"	"MONDO:0014517"	"generalized epilepsy with febrile seizures plus, type 9"	"OMIM:616172"	"Generalized epilepsy with febrile seizures plus, type 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18539"	"STX1B"	"OMIM:616172"	"generalized epilepsy with febrile seizures plus, type 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-11 10:32:32"	""	""	"25362483, 30737342"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STX1B0GEFSplus"	"2023-11-30"
"GENCC_000106-HGNC_11445-OMIM_613101-HP_0000007-GENCC_100002"	"HGNC:11445"	"STXBP2"	"MONDO:0013135"	"familial hemophagocytic lymphohistiocytosis 5"	"OMIM:613101"	"Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11445"	"STXBP2"	"OMIM:613101"	"familial hemophagocytic lymphohistiocytosis 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-10 15:31:45"	""	""	"19804848, 19884660, 21881043, 22451424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STXBP20HemophagLymph"	"2023-11-30"
"GENCC_000106-HGNC_11448-OMIM_612073-HP_0000007-GENCC_100002"	"HGNC:11448"	"SUCLA2"	"MONDO:0012791"	"mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"	"OMIM:612073"	"Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11448"	"SUCLA2"	"OMIM:612073"	"mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-18 09:37:38"	""	""	"15877282, 17301081, 26475597"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUCLA20MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_11449-OMIM_245400-HP_0000007-GENCC_100002"	"HGNC:11449"	"SUCLG1"	"MONDO:0009504"	"mitochondrial DNA depletion syndrome 9"	"OMIM:245400"	"Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11449"	"SUCLG1"	"OMIM:245400"	"mitochondrial DNA depletion syndrome 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 16:27:16"	""	""	"17668387, 20693550, 26475597"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUCLG10MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_16252-OMIM_617187-HP_0000007-GENCC_100002"	"HGNC:16252"	"SUN5"	"MONDO:0014961"	"spermatogenic failure 16"	"OMIM:617187"	"Spermatogenic failure 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16252"	"SUN5"	"OMIM:617187"	"spermatogenic failure 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 20:57:54"	""	""	"242362, 251278, 251404, 27640305, 282758"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUN50SpermFail"	"2023-11-30"
"GENCC_000106-HGNC_26703-OMIM_615540-HP_0000007-GENCC_100002"	"HGNC:26703"	"SYNE4"	"MONDO:0014237"	"autosomal recessive nonsyndromic hearing loss 76"	"OMIM:615540"	"Deafness, autosomal recessive 76"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26703"	"SYNE4"	"OMIM:615540"	"autosomal recessive nonsyndromic hearing loss 76"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-05 11:10:06"	""	""	"23348741, 238616, 28958982"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYNE40Deafness"	"2023-11-30"
"GENCC_000106-HGNC_24316-OMIM_619052-HP_0000007-GENCC_100002"	"HGNC:24316"	"TACO1"	"MONDO:0033638"	"mitochondrial complex 4 deficiency, nuclear type 8"	"OMIM:619052"	"Mitochondrial complex IV deficiency, nuclear type 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24316"	"TACO1"	"OMIM:619052"	"mitochondrial complex 4 deficiency, nuclear type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:00"	""	""	"19503089, 20727754, 25044680, 27319982"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TACO10MC4def"	"2023-11-30"
"GENCC_000106-HGNC_11530-OMIM_204870-HP_0000007-GENCC_100002"	"HGNC:11530"	"TACSTD2"	"MONDO:0008777"	"gelatinous drop-like corneal dystrophy"	"OMIM:204870"	"Corneal dystrophy, gelatinous drop-like"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11530"	"TACSTD2"	"OMIM:204870"	"gelatinous drop-like corneal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:45"	""	""	"10192395, 12107443, 12614764, 15295654, 17653040, 20651236, 2381600, 27081552"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TACSTD20CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_11538-OMIM_615841-HP_0000007-GENCC_100004"	"HGNC:11538"	"TAF4B"	"MONDO:0014365"	"spermatogenic failure 13"	"OMIM:615841"	"?Spermatogenic failure 13"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11538"	"TAF4B"	"OMIM:615841"	"spermatogenic failure 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"15774719, 24431330, 32502024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAF4B0Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_11571-OMIM_612069-HP_0000006-GENCC_100002"	"HGNC:11571"	"TARDBP"	"MONDO:0012790"	"amyotrophic lateral sclerosis type 10"	"OMIM:612069"	"Amyotrophic lateral sclerosis 10, with or without FTD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11571"	"TARDBP"	"OMIM:612069"	"amyotrophic lateral sclerosis type 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-31 06:27:31"	""	""	"18309045, 18372902, 18396105, 19224587, 19465477, 20600671, 23382207, 23827948, 24507191, 24616503, 25792726"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TARDBP0ALS"	"2023-11-30"
"GENCC_000106-HGNC_20122-OMIM_618110-HP_0000007-GENCC_100002"	"HGNC:20122"	"TDRD9"	"MONDO:0020851"	"spermatogenic failure 30"	"OMIM:618110"	"?Spermatogenic failure 30"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20122"	"TDRD9"	"OMIM:618110"	"spermatogenic failure 30"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"20059948, 28536242"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TDRD90Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_19957-OMIM_615031-HP_0000007-GENCC_100002"	"HGNC:19957"	"TECPR2"	"MONDO:0014016"	"hereditary spastic paraplegia 49"	"OMIM:615031"	"Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19957"	"TECPR2"	"OMIM:615031"	"hereditary spastic paraplegia 49"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 07:52:25"	""	""	"23176824, 25590979, 26542466, 27406698"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TECPR20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_29945-OMIM_616736-HP_0000006-GENCC_100002"	"HGNC:29945"	"TENM4"	"MONDO:0014756"	"tremor, hereditary essential, 5"	"OMIM:616736"	"Essential tremor, hereditary, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29945"	"TENM4"	"OMIM:616736"	"tremor, hereditary essential, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 19:00:52"	""	""	"22915103, 26188006, 36689009"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TENM40Tremor"	"2023-11-30"
"GENCC_000106-HGNC_11762-OMIM_604250-HP_0000007-GENCC_100002"	"HGNC:11762"	"TFR2"	"MONDO:0011417"	"hemochromatosis type 3"	"OMIM:604250"	"Hemochromatosis, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11762"	"TFR2"	"OMIM:604250"	"hemochromatosis type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"10802645, 20301523, 23600741, 26029709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFR20HH"	"2023-11-30"
"GENCC_000106-HGNC_11776-OMIM_142946-HP_0000006-GENCC_100002"	"HGNC:11776"	"TGIF1"	"MONDO:0007734"	"holoprosencephaly 4"	"OMIM:142946"	"Holoprosencephaly 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11776"	"TGIF1"	"OMIM:142946"	"holoprosencephaly 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:30"	""	""	"12522553, 15831469, 16962354, 20157829, 22125506"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGIF10Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_11781-OMIM_609796-HP_0000007-GENCC_100002"	"HGNC:11781"	"TGM5"	"MONDO:0012345"	"acral peeling skin syndrome"	"OMIM:609796"	"Peeling skin syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11781"	"TGM5"	"OMIM:609796"	"acral peeling skin syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"16380904, 20164844, 22622422, 25644735, 26707537"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGM50PeelingS02"	"2023-11-30"
"GENCC_000106-HGNC_16255-OMIM_613908-HP_0000006-GENCC_100002"	"HGNC:16255"	"TGM6"	"MONDO:0013485"	"spinocerebellar ataxia type 35"	"OMIM:613908"	"Spinocerebellar ataxia 35"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16255"	"TGM6"	"OMIM:613908"	"spinocerebellar ataxia type 35"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-24 15:54:45"	""	""	"21106500, 22554020, 23355175, 24123792, 25133958, 25253745, 25356970, 28214262, 28362824, 28927799"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGM60SCAR"	"2023-11-30"
"GENCC_000106-HGNC_20856-OMIM_602629-HP_0000006-GENCC_100002"	"HGNC:20856"	"THAP1"	"MONDO:0011264"	"torsion dystonia 6"	"OMIM:602629"	"Dystonia 6, torsion"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20856"	"THAP1"	"OMIM:602629"	"torsion dystonia 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-12 23:49:34"	""	""	"19182804, 19345147, 20211909, 20687193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THAP10Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_11796-OMIM_614450-HP_0000006-GENCC_100002"	"HGNC:11796"	"THRA"	"MONDO:0013757"	"congenital nongoitrous hypothyroidism 6"	"OMIM:614450"	"Hypothyroidism, congenital, nongoitrous, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11796"	"THRA"	"OMIM:614450"	"congenital nongoitrous hypothryoidism 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:40"	""	""	"11734632, 22168587, 22494134, 23633213, 23940126, 24969835, 25670821, 26037512, 26782358, 27144938, 28471274, 30753492, 30842990, 31589614, 32204686, 32349464, 33509032"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THRA0Hypothy"	"2023-11-30"
"GENCC_000106-HGNC_23656-OMIM_617698-HP_0000007-GENCC_100002"	"HGNC:23656"	"TIMM50"	"MONDO:0044724"	"3-methylglutaconic aciduria type 9"	"OMIM:617698"	"3-methylglutaconic aciduria, type IX"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23656"	"TIMM50"	"OMIM:617698"	"3-methylglutaconic aciduria type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-06-28 11:03:51"	""	""	"26795593, 27573165, 30190335"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIMM5003Methyl"	"2023-11-30"
"GENCC_000106-HGNC_20474-OMIM_618231-HP_0000007-GENCC_100002"	"HGNC:20474"	"TMC8"	"MONDO:0032614"	"epidermodysplasia verruciformis, susceptibility to, 2"	"OMIM:618231"	"{Epidermodysplasia verruciformis, susceptibility to, 2}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20474"	"TMC8"	"OMIM:618231"	"epidermodysplasia verruciformis, susceptibility to, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 17:28:31"	""	""	"12426567, 12938792, 22158547, 24643182"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMC80EpidermDysVerr"	"2023-11-30"
"GENCC_000106-HGNC_25382-OMIM_612989-HP_0000007-GENCC_100002"	"HGNC:25382"	"TMEM126A"	"MONDO:0013069"	"autosomal recessive optic atrophy, OPA7 type"	"OMIM:612989"	"Optic atrophy 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25382"	"TMEM126A"	"OMIM:612989"	"autosomal recessive optic atrophy, OPA7 type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"19327736, 20405026, 22815638, 30369941, 30961538"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM126A0OpticAtroph"	"2023-11-30"
"GENCC_000106-HGNC_26038-OMIM_171300-HP_0000006-GENCC_100002"	"HGNC:26038"	"TMEM127"	"MONDO:0008233"	"pheochromocytoma"	"OMIM:171300"	"{Pheochromocytoma, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26038"	"TMEM127"	"OMIM:171300"	"pheochromocytoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 20:51:00"	""	""	"20154675, 21156949, 22136840, 24334765, 24694336, 25800244, 26259135, 28384794, 28855235, 28973655, 31781416, 33051659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1270PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_25186-OMIM_607454-HP_0000006-GENCC_100002"	"HGNC:25186"	"TMEM240"	"MONDO:0011833"	"spinocerebellar ataxia type 21"	"OMIM:607454"	"Spinocerebellar ataxia 21"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25186"	"TMEM240"	"OMIM:607454"	"spinocerebellar ataxia type 21"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:47:06"	""	""	"25070513, 30522958"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM2400SCAR"	"2023-11-30"
"GENCC_000106-HGNC_25535-OMIM_615066-HP_0000007-GENCC_100002"	"HGNC:25535"	"TMEM38B"	"MONDO:0014029"	"osteogenesis imperfecta type 14"	"OMIM:615066"	"Osteogenesis imperfecta, type XIV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25535"	"TMEM38B"	"OMIM:615066"	"osteogenesis imperfecta type 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-04 13:53:01"	""	""	"17611541, 23054245, 23499310, 26911354"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM38B0OI"	"2023-11-30"
"GENCC_000106-HGNC_26050-OMIM_614052-HP_0000007-GENCC_100002"	"HGNC:26050"	"TMEM70"	"MONDO:0013546"	"mitochondrial complex V (ATP synthase) deficiency nuclear type 2"	"OMIM:614052"	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26050"	"TMEM70"	"OMIM:614052"	"mitochondrial complex V (ATP synthase) deficiency nuclear type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-13 17:44:03"	""	""	"18953340, 20335238, 21147908, 24485043, 25326274"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM700MC5def"	"2023-11-30"
"GENCC_000106-HGNC_16517-OMIM_206200-HP_0000007-GENCC_100002"	"HGNC:16517"	"TMPRSS6"	"MONDO:0008788"	"IRIDA syndrome"	"OMIM:206200"	"Iron-refractory iron deficiency anemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16517"	"TMPRSS6"	"OMIM:206200"	"IRIDA syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-18 21:24:21"	""	""	"20232450, 25156943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMPRSS60Iron-Ref"	"2023-11-30"
"GENCC_000106-HGNC_11909-OMIM_239000-HP_0000007-GENCC_100002"	"HGNC:11909"	"TNFRSF11B"	"MONDO:0009394"	"juvenile Paget disease"	"OMIM:239000"	"Paget disease of bone 5, juvenile-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11909"	"TNFRSF11B"	"OMIM:239000"	"juvenile Paget disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 15:56:34"	""	""	"14672344, 22638612, 23322328, 26762549, 27809640, 9647741"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF11B0Paget"	"2023-11-30"
"GENCC_000106-HGNC_11926-OMIM_259710-HP_0000007-GENCC_100002"	"HGNC:11926"	"TNFSF11"	"MONDO:0009816"	"autosomal recessive osteopetrosis 2"	"OMIM:259710"	"Osteopetrosis, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11926"	"TNFSF11"	"OMIM:259710"	"autosomal recessive osteopetrosis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-03 08:51:38"	""	""	"17632511, 23762088"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFSF110Osteopetrosis"	"2023-11-30"
"GENCC_000106-HGNC_11946-OMIM_601680-HP_0000006-GENCC_100002"	"HGNC:11946"	"TNNI2"	"MONDO:0020820"	"distal arthrogryposis type 2B1"	"OMIM:601680"	"Arthrogryposis, distal, type 2B1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11946"	"TNNI2"	"OMIM:601680"	"distal arthrogryposis type 2B1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-18 20:39:58"	""	""	"12592607, 16497570, 16802141, 16924011, 17101001, 17380469, 23401156, 23850728, 24343878, 26374086, 27790376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNI20Arthogryposis"	"2023-11-30"
"GENCC_000106-HGNC_17103-OMIM_608423-HP_0000006-GENCC_100002"	"HGNC:17103"	"TNPO3"	"MONDO:0012034"	"autosomal dominant limb-girdle muscular dystrophy type 1F"	"OMIM:608423"	"Muscular dystrophy, limb-girdle, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17103"	"TNPO3"	"OMIM:608423"	"autosomal dominant limb-girdle muscular dystrophy type 1F"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-26 13:52:53"	""	""	"23543484, 23667635, 30567601, 31192305, 31217819"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNPO30LGMD"	"2023-11-30"
"GENCC_000106-HGNC_21653-OMIM_609923-HP_0000006-GENCC_100002"	"HGNC:21653"	"TOPORS"	"MONDO:0012367"	"retinitis pigmentosa 31"	"OMIM:609923"	"Retinitis pigmentosa 31"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21653"	"TOPORS"	"OMIM:609923"	"retinitis pigmentosa 31"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 16:52:37"	""	""	"17924349, 18509552, 19183411, 22581970, 26155838, 28453362"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOPORS0RP"	"2023-11-30"
"GENCC_000106-HGNC_16197-OMIM_617730-HP_0000007-GENCC_100002"	"HGNC:16197"	"TP53RK"	"MONDO:0033008"	"Galloway-Mowat syndrome 4"	"OMIM:617730"	"Galloway-Mowat syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16197"	"TP53RK"	"OMIM:617730"	"Galloway-Mowat syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-26 13:37:47"	""	""	"124354, 126234, 28805828, 30053862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TP53RK0Galloway"	"2023-11-30"
"GENCC_000106-HGNC_12009-OMIM_615512-HP_0000007-GENCC_100002"	"HGNC:12009"	"TPI1"	"MONDO:0014221"	"triosephosphate isomerase deficiency"	"OMIM:615512"	"Hemolytic anemia due to triosephosphate isomerase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12009"	"TPI1"	"OMIM:615512"	"triosephosphate isomerase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:57"	""	""	"20374271, 7485100, 8807088, 9338582"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPI10Hemolyti"	"2023-11-30"
"GENCC_000106-HGNC_12015-OMIM_274500-HP_0000007-GENCC_100002"	"HGNC:12015"	"TPO"	"MONDO:0010133"	"thyroid dyshormonogenesis 2A"	"OMIM:274500"	"Thyroid dyshormonogenesis 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12015"	"TPO"	"OMIM:274500"	"thyroid dyshormonogenesis 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-11-01 09:08:46"	""	""	"11061528, 23236987, 25564141"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPO0ThyroidDyshorm"	"2023-11-30"
"GENCC_000106-HGNC_25751-OMIM_615356-HP_0000007-GENCC_100002"	"HGNC:25751"	"TRAPPC11"	"MONDO:0014144"	"autosomal recessive limb-girdle muscular dystrophy type R18"	"OMIM:615356"	"Muscular dystrophy, limb-girdle, autosomal recessive 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25751"	"TRAPPC11"	"OMIM:615356"	"autosomal recessive limb-girdle muscular dystrophy type R18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 20:19:16"	""	""	"23830518, 26322222, 27862579, 8090797"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAPPC110LGMD"	"2023-11-30"
"GENCC_000106-HGNC_23068-OMIM_313400-HP_0001417-GENCC_100002"	"HGNC:23068"	"TRAPPC2"	"MONDO:0010737"	"spondyloepiphyseal dysplasia tarda, X-linked"	"OMIM:313400"	"Spondyloepiphyseal dysplasia tarda"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:23068"	"TRAPPC2"	"OMIM:313400"	"spondyloepiphyseal dysplasia tarda, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 19:16:33"	""	""	"10431248, 11326333, 11349230"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAPPC20Spondylo"	"2023-11-30"
"GENCC_000106-HGNC_20286-OMIM_617873-HP_0000007-GENCC_100002"	"HGNC:20286"	"TRIT1"	"MONDO:0054742"	"combined oxidative phosphorylation deficiency 35"	"OMIM:617873"	"Combined oxidative phosphorylation deficiency 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20286"	"TRIT1"	"OMIM:617873"	"combined oxidative phosphorylation deficiency 35"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:48:26"	""	""	"1914216, 24901367, 28185376, 31140736"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIT10OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_28403-OMIM_616033-HP_0000007-GENCC_100002"	"HGNC:28403"	"TRMT10A"	"MONDO:0000208"	"microcephaly, short stature, and impaired glucose metabolism 1"	"OMIM:616033"	"Microcephaly, short stature, and impaired glucose metabolism 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28403"	"TRMT10A"	"OMIM:616033"	"microcephaly, short stature, and impaired glucose metabolism 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 19:21:55"	""	""	"24204302, 25053765, 26526202, 26535115, 30842647"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRMT10A0Seckel"	"2023-11-30"
"GENCC_000106-HGNC_12338-OMIM_603965-HP_0000006-GENCC_100002"	"HGNC:12338"	"TRPC6"	"MONDO:0011390"	"focal segmental glomerulosclerosis 2"	"OMIM:603965"	"Glomerulosclerosis, focal segmental, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12338"	"TRPC6"	"OMIM:603965"	"focal segmental glomerulosclerosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-20 17:39:50"	""	""	"15924139, 19129465, 19458060, 20798252, 21734084, 22187987, 23645677, 25349199, 30406062"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPC60FSGS"	"2023-11-30"
"GENCC_000106-HGNC_16791-OMIM_617026-HP_0000007-GENCC_100002"	"HGNC:16791"	"TSEN15"	"MONDO:0014874"	"pontocerebellar hypoplasia, type 2F"	"OMIM:617026"	"Pontocerebellar hypoplasia, type 2F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16791"	"TSEN15"	"OMIM:617026"	"pontocerebellar hypoplasia, type 2F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"25558065, 27392077"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSEN150PCH"	"2023-11-30"
"GENCC_000106-HGNC_12367-OMIM_610505-HP_0000007-GENCC_100002"	"HGNC:12367"	"TSFM"	"MONDO:0012512"	"fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"	"OMIM:610505"	"Combined oxidative phosphorylation deficiency 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12367"	"TSFM"	"OMIM:610505"	"fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 13:54:45"	""	""	"17033963, 20435138, 21119709, 22499341, 25037205, 25078778, 27677415, 30911037"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSFM0OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_12372-OMIM_275100-HP_0000007-GENCC_100002"	"HGNC:12372"	"TSHB"	"MONDO:0010139"	"isolated thyroid-stimulating hormone deficiency"	"OMIM:275100"	"Hypothyroidism, congenital, nongoitrous 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12372"	"TSHB"	"OMIM:275100"	"isolated thyroid-stimulating hormone deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"14646401, 15112912, 1971148, 26416826, 2792087, 31166470, 8636437"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSHB0Hypothy"	"2023-11-30"
"GENCC_000106-HGNC_21641-OMIM_613310-HP_0000006-GENCC_100002"	"HGNC:21641"	"TSPAN12"	"MONDO:0013218"	"exudative vitreoretinopathy 5"	"OMIM:613310"	"Exudative vitreoretinopathy 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21641"	"TSPAN12"	"OMIM:613310"	"exudative vitreoretinopathy 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-08 17:20:46"	""	""	"20159112, 20301326, 21334594, 22427576, 23834558, 25711638"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSPAN120ExudVitreoret"	"2023-11-30"
"GENCC_000106-HGNC_19141-OMIM_604432-HP_0000006-GENCC_100002"	"HGNC:19141"	"TTBK2"	"MONDO:0011464"	"spinocerebellar ataxia type 11"	"OMIM:604432"	"Spinocerebellar ataxia 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19141"	"TTBK2"	"OMIM:604432"	"spinocerebellar ataxia type 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:42"	""	""	"18037885, 20667868, 21548880, 2314154, 23141541, 27165044, 30532139, 31485862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTBK20SCAR"	"2023-11-30"
"GENCC_000106-HGNC_26006-OMIM_615157-HP_0000007-GENCC_100002"	"HGNC:26006"	"TTC19"	"MONDO:0014063"	"mitochondrial complex III deficiency nuclear type 2"	"OMIM:615157"	"Mitochondrial complex III deficiency, nuclear type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26006"	"TTC19"	"OMIM:615157"	"mitochondrial complex III deficiency nuclear type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:53"	""	""	"21278747, 212787747, 23532514, 24368687, 24397319, 25914718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC190MC3def"	"2023-11-30"
"GENCC_000106-HGNC_19963-OMIM_615860-HP_0000007-GENCC_100002"	"HGNC:19963"	"TTLL5"	"MONDO:0014372"	"cone-rod dystrophy 19"	"OMIM:615860"	"Cone-rod dystrophy 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19963"	"TTLL5"	"OMIM:615860"	"cone-rod dystrophy 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 09:57:52"	""	""	"24791901, 27162334, 28173158"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTLL50ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_12404-OMIM_277460-HP_0000007-GENCC_100002"	"HGNC:12404"	"TTPA"	"MONDO:0010188"	"familial isolated deficiency of vitamin E"	"OMIM:277460"	"Ataxia with isolated vitamin E deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12404"	"TTPA"	"OMIM:277460"	"familial isolated deficiency of vitamin E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:12:19"	""	""	"25066259, 26068213, 9463307"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTPA0AtaxiaVitE"	"2023-11-30"
"GENCC_000106-HGNC_12420-OMIM_610678-HP_0000007-GENCC_100002"	"HGNC:12420"	"TUFM"	"MONDO:0012534"	"combined oxidative phosphorylation defect type 4"	"OMIM:610678"	"Combined oxidative phosphorylation deficiency 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12420"	"TUFM"	"OMIM:610678"	"combined oxidative phosphorylation defect type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-28 14:03:30"	""	""	"17160893, 19524667, 20435138, 26741492"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUFM0OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_12469-OMIM_301830-HP_0001417-GENCC_100002"	"HGNC:12469"	"UBA1"	"MONDO:0010532"	"infantile-onset X-linked spinal muscular atrophy"	"OMIM:301830"	"Spinal muscular atrophy, X-linked 2, infantile"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12469"	"UBA1"	"OMIM:301830"	"infantile-onset X-linked spinal muscular atrophy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:32"	""	""	"18179898, 26028276"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBA10SMA"	"2023-11-30"
"GENCC_000106-HGNC_30791-OMIM_121800-HP_0000006-GENCC_100002"	"HGNC:30791"	"UBIAD1"	"MONDO:0007374"	"Schnyder corneal dystrophy"	"OMIM:121800"	"Corneal dystrophy, Schnyder type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30791"	"UBIAD1"	"OMIM:121800"	"Schnyder corneal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 19:26:41"	""	""	"17668063, 18176953, 23169578, 23328470"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBIAD10CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_12509-OMIM_300857-HP_0001417-GENCC_100002"	"HGNC:12509"	"UBQLN2"	"MONDO:0010459"	"amyotrophic lateral sclerosis type 15"	"OMIM:300857"	"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12509"	"UBQLN2"	"OMIM:300857"	"amyotrophic lateral sclerosis type 15"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-07 11:36:07"	""	""	"21857683, 22169395, 22560112, 22676852, 23312802, 23973441, 2477154, 24771548, 25388785, 32290710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBQLN20ALS"	"2023-11-30"
"GENCC_000106-HGNC_23147-OMIM_608898-HP_0000007-GENCC_100002"	"HGNC:23147"	"UNC13D"	"MONDO:0012146"	"familial hemophagocytic lymphohistiocytosis 3"	"OMIM:608898"	"Hemophagocytic lymphohistiocytosis, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23147"	"UNC13D"	"OMIM:608898"	"familial hemophagocytic lymphohistiocytosis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 15:37:52"	""	""	"14622600, 15632205, 15703195, 16825436"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UNC13D0HemophagLymph"	"2023-11-30"
"GENCC_000106-HGNC_13486-OMIM_300984-HP_0001417-GENCC_100002"	"HGNC:13486"	"USP27X"	"MONDO:0010510"	"intellectual disability, X-linked 105"	"OMIM:300984"	"Intellectual developmental disorder, X-linked 105"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:13486"	"USP27X"	"OMIM:300984"	"intellectual disability, X-linked 105"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-22 18:47:44"	""	""	"25644381, 31316545"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USP27X0XLID"	"2023-11-30"
"GENCC_000106-HGNC_18179-OMIM_617303-HP_0000007-GENCC_100002"	"HGNC:18179"	"VPS33A"	"MONDO:0015012"	"mucopolysaccharidosis-plus syndrome"	"OMIM:617303"	"Mucopolysaccharidosis-plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18179"	"VPS33A"	"OMIM:617303"	"mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-17 23:26:21"	""	""	"27547915, 28013294"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS33A0VPS33Arel"	"2023-11-30"
"GENCC_000106-HGNC_24502-OMIM_604317-HP_0000007-GENCC_100002"	"HGNC:24502"	"WDR62"	"MONDO:0011435"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"OMIM:604317"	"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24502"	"WDR62"	"OMIM:604317"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 03:02:25"	""	""	"20729831, 20890279, 21496009, 23065275, 25951892, 28272472, 30102701, 575757"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR620Seckel"	"2023-11-30"
"GENCC_000106-HGNC_12736-OMIM_614493-HP_0000007-GENCC_100002"	"HGNC:12736"	"WIPF1"	"MONDO:0013779"	"Wiskott-Aldrich syndrome 2"	"OMIM:614493"	"Wiskott-Aldrich syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12736"	"WIPF1"	"OMIM:614493"	"Wiskott-Aldrich syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22231303, 27742395"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WIPF10WiskottAldrich"	"2023-11-30"
"GENCC_000106-HGNC_12784-OMIM_180700-HP_0000006-GENCC_100002"	"HGNC:12784"	"WNT5A"	"MONDO:0024455"	"autosomal dominant Robinow syndrome 1"	"OMIM:180700"	"Robinow syndrome, autosomal dominant 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12784"	"WNT5A"	"OMIM:180700"	"autosomal dominant Robinow syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:33"	""	""	"12839624, 19918918, 24716670, 268648, 33237614, 34750320, 35047859, 35586607"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT5A0Robinow"	"2023-11-30"
"GENCC_000106-HGNC_12811-OMIM_300842-HP_0001417-GENCC_100002"	"HGNC:12811"	"XK"	"MONDO:0018945"	"McLeod neuroacanthocytosis syndrome"	"OMIM:300842"	"McLeod syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12811"	"XK"	"OMIM:300842"	"McLeod neuroacanthocytosis syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 20:32:23"	""	""	"11761473, 20301528"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XK0McleodSy"	"2023-11-30"
"GENCC_000106-HGNC_24249-OMIM_613561-HP_0000007-GENCC_100002"	"HGNC:24249"	"YARS2"	"MONDO:0013307"	"myopathy, lactic acidosis, and sideroblastic anemia 2"	"OMIM:613561"	"Myopathy, lactic acidosis, and sideroblastic anemia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24249"	"YARS2"	"OMIM:613561"	"myopathy, lactic acidosis, and sideroblastic anemia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 09:58:32"	""	""	"121040, 20598274, 23918765, 24344687, 25638461, 26647310, 26944241, 30026338"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YARS20MLASA"	"2023-11-30"
"GENCC_000106-HGNC_21143-OMIM_614069-HP_0000007-GENCC_100002"	"HGNC:21143"	"ZBTB24"	"MONDO:0013553"	"immunodeficiency-centromeric instability-facial anomalies syndrome 2"	"OMIM:614069"	"Immunodeficiency-centromeric instability-facial anomalies syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21143"	"ZBTB24"	"OMIM:614069"	"immunodeficiency-centromeric instability-facial anomalies syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:53:21"	""	""	"21596365, 21906047, 23739126, 26851945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZBTB240ImmCentInstFac"	"2023-11-30"
"GENCC_000106-HGNC_18791-OMIM_601410-HP_0000007-GENCC_100002"	"HGNC:18791"	"ZFP57"	"MONDO:0011073"	"diabetes mellitus, transient neonatal, 1"	"OMIM:601410"	"{Diabetes mellitus, transient neonatal 1}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18791"	"ZFP57"	"OMIM:601410"	"diabetes mellitus, transient neonatal, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 14:19:19"	""	""	"18622393, 23150280, 23335487, 23385738, 23499433, 25755231"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFP570TransNDM"	"2023-11-30"
"GENCC_000106-HGNC_20761-OMIM_270700-HP_0000007-GENCC_100002"	"HGNC:20761"	"ZFYVE26"	"MONDO:0010044"	"hereditary spastic paraplegia 15"	"OMIM:270700"	"Spastic paraplegia 15, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20761"	"ZFYVE26"	"OMIM:270700"	"hereditary spastic paraplegia 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-01 14:39:50"	""	""	"11342696, 17661097, 18394578, 19805727, 24284334, 24367272"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFYVE260SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_12873-OMIM_609637-HP_0000006-GENCC_100002"	"HGNC:12873"	"ZIC2"	"MONDO:0012322"	"holoprosencephaly 5"	"OMIM:609637"	"Holoprosencephaly 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12873"	"ZIC2"	"OMIM:609637"	"holoprosencephaly 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 11:44:44"	""	""	"10677508, 17274816, 19177455, 19955556, 20104608, 21940735, 29770992"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZIC20Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_19412-OMIM_615444-HP_0000007-GENCC_100002"	"HGNC:19412"	"ZMYND10"	"MONDO:0014192"	"primary ciliary dyskinesia 22"	"OMIM:615444"	"Ciliary dyskinesia, primary, 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19412"	"ZMYND10"	"OMIM:615444"	"primary ciliary dyskinesia 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:51"	""	""	"23891469, 23891471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZMYND100PCD"	"2023-11-30"
"GENCC_000106-HGNC_15807-OMIM_615095-HP_0000007-GENCC_100002"	"HGNC:15807"	"ZNF335"	"MONDO:0014043"	"microcephalic primordial dwarfism due to ZNF335 deficiency"	"OMIM:615095"	"Microcephaly 10, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15807"	"ZNF335"	"OMIM:615095"	"microcephalic primordial dwarfism due to ZNF335 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 21:47:58"	""	""	"23178126, 26795593, 27540107"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF3350Seckel"	"2023-11-30"
"GENCC_000106-HGNC_15992-OMIM_618282-HP_0000007-GENCC_100002"	"HGNC:15992"	"ZNF341"	"MONDO:0032654"	"hyper-IgE recurrent infection syndrome 3, autosomal recessive"	"OMIM:618282"	"Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15992"	"ZNF341"	"OMIM:618282"	"hyper-IgE recurrent infection syndrome 3, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:33"	""	""	"29907690, 29907691"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF3410HyperIgEinf"	"2023-11-30"
"GENCC_000106-HGNC_13128-OMIM_300803-HP_0001417-GENCC_100002"	"HGNC:13128"	"ZNF711"	"MONDO:0010430"	"intellectual disability, X-linked 97"	"OMIM:300803"	"Intellectual developmental disorder, X-linked 97"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:13128"	"ZNF711"	"OMIM:300803"	"intellectual disability, X-linked 97"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 13:29:46"	""	""	"19377476, 25644381, 25679214, 27993705, 28454995, 29453418"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF7110XLID"	"2023-11-30"
"GENCC_000106-HGNC_13189-OMIM_617712-HP_0000006-GENCC_100002"	"HGNC:13189"	"ZP3"	"MONDO:0021574"	"oocyte maturation defect 3"	"OMIM:617712"	"Oocyte/zygote/embryo maturation arrest 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13189"	"ZP3"	"OMIM:617712"	"oocyte maturation defect 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-05 20:03:24"	""	""	"28646452, 28886344, 28971300, 29094202"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZP30FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_53-OMIM_237500-HP_0000007-GENCC_100002"	"HGNC:53"	"ABCC2"	"MONDO:0009380"	"Dubin-Johnson syndrome"	"OMIM:237500"	"Dubin-Johnson syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:53"	"ABCC2"	"OMIM:237500"	"Dubin-Johnson syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 19:01:33"	""	""	"16549534, 16952291, 282742, 282880, 282892, 9185779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC20Dubin-Jo"	"2023-11-30"
"GENCC_000106-HGNC_124-OMIM_607944-HP_0000007-GENCC_100002"	"HGNC:124"	"ACP5"	"MONDO:0011939"	"Spondyloenchondrodysplasia with immune dysregulation"	"OMIM:607944"	"Spondyloenchondrodysplasia with immune dysregulation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:124"	"ACP5"	"OMIM:607944"	"Spondyloenchondrodysplasia with immune dysregulation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 16:04:28"	""	""	"21217752, 21217755"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACP50SED"	"2023-11-30"
"GENCC_000106-HGNC_257-OMIM_614300-HP_0000007-GENCC_100002"	"HGNC:257"	"ADK"	"MONDO:0100255"	"adenosine kinase deficiency"	"OMIM:614300"	"Hypermethioninemia due to adenosine kinase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:257"	"ADK"	"OMIM:614300"	"adenosine kinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-20 07:05:59"	""	""	"21963049, 26642971"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADK0Hypermet"	"2023-11-30"
"GENCC_000106-HGNC_403-OMIM_270200-HP_0000007-GENCC_100002"	"HGNC:403"	"ALDH3A2"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"OMIM:270200"	"Sjogren-Larsson syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:403"	"ALDH3A2"	"OMIM:270200"	"Sjogren-Larsson syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-07 14:26:21"	""	""	"10577908, 10854114, 27053112, 9829906"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH3A20SjogrenLarsson"	"2023-11-30"
"GENCC_000106-HGNC_408-OMIM_271980-HP_0000007-GENCC_100002"	"HGNC:408"	"ALDH5A1"	"MONDO:0010083"	"succinic semialdehyde dehydrogenase deficiency"	"OMIM:271980"	"Succinic semialdehyde dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:408"	"ALDH5A1"	"OMIM:271980"	"succinic semialdehyde dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-09 14:16:18"	""	""	"11544478, 14635103, 19172412, 20301374, 22437753, 25431891, 26268900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH5A10SSDD"	"2023-11-30"
"GENCC_000106-HGNC_7179-OMIM_614105-HP_0000007-GENCC_100002"	"HGNC:7179"	"ALDH6A1"	"MONDO:0013579"	"methylmalonate semialdehyde dehydrogenase deficiency"	"OMIM:614105"	"Methylmalonate semialdehyde dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7179"	"ALDH6A1"	"OMIM:614105"	"methylmalonate semialdehyde dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"10947204, 21863277, 23835272"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH6A10Methylma"	"2023-11-30"
"GENCC_000106-HGNC_25240-OMIM_262890-HP_0000007-GENCC_100002"	"HGNC:25240"	"ANO6"	"MONDO:0009885"	"Scott syndrome"	"OMIM:262890"	"Scott syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25240"	"ANO6"	"OMIM:262890"	"Scott syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:53"	""	""	"21107324, 21511967, 27879994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANO60ScottSyn"	"2023-11-30"
"GENCC_000106-HGNC_21732-OMIM_228600-HP_0000007-GENCC_100002"	"HGNC:21732"	"ANTXR2"	"MONDO:0009229"	"hyaline fibromatosis syndrome"	"OMIM:228600"	"Hyaline fibromatosis syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21732"	"ANTXR2"	"OMIM:228600"	"hyaline fibromatosis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:48:43"	""	""	"12973667, 14508707, 30176098"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANTXR20HyalineF"	"2023-11-30"
"GENCC_000106-HGNC_626-OMIM_614723-HP_0000007-GENCC_100002"	"HGNC:626"	"APRT"	"MONDO:0013869"	"adenine phosphoribosyltransferase deficiency"	"OMIM:614723"	"Adenine phosphoribosyltransferase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:626"	"APRT"	"OMIM:614723"	"adenine phosphoribosyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"20150536, 28717278, 3680503, 7685481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APRT0APRTDeficiency"	"2023-11-30"
"GENCC_000106-HGNC_25781-OMIM_615954-HP_0000006-GENCC_100002"	"HGNC:25781"	"ARMC5"	"MONDO:0014416"	"ACTH-independent macronodular adrenal hyperplasia 2"	"OMIM:615954"	"{ACTH-independent macronodular adrenal hyperplasia 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25781"	"ARMC5"	"OMIM:615954"	"ACTH-independent macronodular adrenal hyperplasia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-25 19:10:26"	""	""	"24601692, 24708098, 25853793"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARMC50Acth-Ind"	"2023-11-30"
"GENCC_000106-HGNC_18318-OMIM_605039-HP_0000006-GENCC_100002"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"OMIM:605039"	"Bohring-Opitz syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18318"	"ASXL1"	"OMIM:605039"	"Bohring-Opitz syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-19 15:14:51"	""	""	"21706002, 24218140, 25921057, 28497657"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASXL10BohringOpitz"	"2023-11-30"
"GENCC_000106-HGNC_811-OMIM_601003-HP_0000007-GENCC_100002"	"HGNC:811"	"ATP2A1"	"MONDO:0010977"	"Brody myopathy"	"OMIM:601003"	"Brody myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:811"	"ATP2A1"	"OMIM:601003"	"Brody myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-03-15 13:54:35"	""	""	"1000181, 10914677, 23911890, 8841193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2A10Brody"	"2023-11-30"
"GENCC_000106-HGNC_24154-OMIM_608022-HP_0000007-GENCC_100002"	"HGNC:24154"	"BMPER"	"MONDO:0011946"	"diaphanospondylodysostosis"	"OMIM:608022"	"Diaphanospondylodysostosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24154"	"BMPER"	"OMIM:608022"	"diaphanospondylodysostosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:29:28"	""	""	"20869035, 21990102"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMPER0Diaphano"	"2023-11-30"
"GENCC_000106-HGNC_29521-OMIM_218340-HP_0000007-GENCC_100002"	"HGNC:29521"	"C12orf57"	"MONDO:0009033"	"temtamy syndrome"	"OMIM:218340"	"Temtamy syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29521"	"C12orf57"	"OMIM:218340"	"temtamy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-18 20:50:36"	""	""	"23453665, 23453666, 24798461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C12orf570Temtamy"	"2023-11-30"
"GENCC_000106-HGNC_1583-OMIM_615938-HP_0000006-GENCC_100002"	"HGNC:1583"	"CCND2"	"MONDO:0014408"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	"OMIM:615938"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1583"	"CCND2"	"OMIM:615938"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:00"	""	""	"24705253"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCND20Megalenc"	"2023-11-30"
"GENCC_000106-HGNC_1974-OMIM_613630-HP_0000007-GENCC_100002"	"HGNC:1974"	"CHUK"	"MONDO:0013334"	"cocoon syndrome"	"OMIM:613630"	"?Cocoon syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1974"	"CHUK"	"OMIM:613630"	"cocoon syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"20961246, 25691407, 29523099, 34533979"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHUK0CocoonSy"	"2023-11-30"
"GENCC_000106-HGNC_26877-OMIM_272440-HP_0000007-GENCC_100002"	"HGNC:26877"	"CKAP2L"	"MONDO:0010092"	"Filippi syndrome"	"OMIM:272440"	"Filippi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26877"	"CKAP2L"	"OMIM:272440"	"Filippi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-06 14:45:49"	""	""	"24260314, 25439729"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CKAP2L0FilippiS"	"2023-11-30"
"GENCC_000106-HGNC_22986-OMIM_615155-HP_0000007-GENCC_100002"	"HGNC:22986"	"COL27A1"	"MONDO:0014061"	"Steel syndrome"	"OMIM:615155"	"Steel syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22986"	"COL27A1"	"OMIM:615155"	"Steel syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-10 13:10:47"	""	""	"22206015, 24986830, 28276056, 28322503"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL27A10SteelSyn"	"2023-11-30"
"GENCC_000106-HGNC_19041-OMIM_615573-HP_0000007-GENCC_100002"	"HGNC:19041"	"COQ8B"	"MONDO:0014257"	"nephrotic syndrome, type 9"	"OMIM:615573"	"Nephrotic syndrome, type 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19041"	"COQ8B"	"OMIM:615573"	"nephrotic syndrome, type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-08 08:55:07"	""	""	"24270420, 28204945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COQ8B0Nephroti02"	"2023-11-30"
"GENCC_000106-HGNC_2291-OMIM_300887-HP_0001417-GENCC_100002"	"HGNC:2291"	"COX7B"	"MONDO:0010474"	"linear skin defects with multiple congenital anomalies 2"	"OMIM:300887"	"Linear skin defects with multiple congenital anomalies 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2291"	"COX7B"	"OMIM:300887"	"linear skin defects with multiple congenital anomalies 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"23122588"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX7B0LinearSk"	"2023-11-30"
"GENCC_000106-HGNC_14312-OMIM_615789-HP_0000007-GENCC_100002"	"HGNC:14312"	"CRIPT"	"MONDO:0014347"	"Rothmund-Thomson syndrome, type 3"	"OMIM:615789"	"Rothmund-Thomson syndrome, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14312"	"CRIPT"	"OMIM:615789"	"short stature with microcephaly and distinctive facies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-10 20:49:00"	""	""	"24389050, 27250922"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRIPT0ShortSta"	"2023-11-30"
"GENCC_000106-HGNC_2457-OMIM_617062-HP_0000006-GENCC_100002"	"HGNC:2457"	"CSNK2A1"	"MONDO:0014893"	"Okur-Chung neurodevelopmental syndrome"	"OMIM:617062"	"Okur-Chung neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2457"	"CSNK2A1"	"OMIM:617062"	"Okur-Chung neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-31 13:45:00"	""	""	"27048600, 28725024, 29240241, 29568000, 30655572, 30660939"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSNK2A10Okur-Chu"	"2023-11-30"
"GENCC_000106-HGNC_9251-OMIM_256540-HP_0000007-GENCC_100002"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"galactosialidosis"	"OMIM:256540"	"Galactosialidosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9251"	"CTSA"	"OMIM:256540"	"galactosialidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-27 07:58:30"	""	""	"15110321, 23915561"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSA0Galactosialid"	"2023-11-30"
"GENCC_000106-HGNC_2536-OMIM_265800-HP_0000007-GENCC_100002"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"OMIM:265800"	"Pycnodysostosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2536"	"CTSK"	"OMIM:265800"	"pycnodysostosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 21:39:24"	""	""	"12125807, 21569238"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSK0Pycnodysostosis"	"2023-11-30"
"GENCC_000106-HGNC_2561-OMIM_193670-HP_0000006-GENCC_100002"	"HGNC:2561"	"CXCR4"	"MONDO:8000006"	"WHIM syndrome 1"	"OMIM:193670"	"Myelokathexis, isolated"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2561"	"CXCR4"	"OMIM:193670"	"WHIM syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 09:03:10"	""	""	"12692554, 15026312, 17087743, 19057201, 19956569, 2139496, 21506920, 23009155, 23794067, 27059040, 29057173"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CXCR40WHIM"	"2023-11-30"
"GENCC_000106-HGNC_19986-OMIM_612004-HP_0000006-GENCC_100002"	"HGNC:19986"	"CYCS"	"MONDO:0012775"	"thrombocytopenia 4"	"OMIM:612004"	"Thrombocytopenia 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19986"	"CYCS"	"OMIM:612004"	"thrombocytopenia 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:14"	""	""	"18345000, 21192676, 24099549, 24326104, 26123826, 27479822, 27861742, 29287084, 30051457"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYCS0Thromboc"	"2023-11-30"
"GENCC_000106-HGNC_2605-OMIM_213700-HP_0000007-GENCC_100002"	"HGNC:2605"	"CYP27A1"	"MONDO:0008948"	"cerebrotendinous xanthomatosis"	"OMIM:213700"	"Cerebrotendinous xanthomatosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2605"	"CYP27A1"	"OMIM:213700"	"cerebrotendinous xanthomatosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:33:44"	""	""	"10775536, 11001949, 12119285, 26937392, 9392430"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP27A10CerebrotenXanth"	"2023-11-30"
"GENCC_000106-HGNC_25784-OMIM_241080-HP_0000007-GENCC_100002"	"HGNC:25784"	"DCAF17"	"MONDO:0009419"	"Woodhouse-Sakati syndrome"	"OMIM:241080"	"Woodhouse-Sakati syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25784"	"DCAF17"	"OMIM:241080"	"Woodhouse-Sakati syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-04 13:56:33"	""	""	"19026396, 20507343, 26664771, 378974"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCAF170Woodhouse"	"2023-11-30"
"GENCC_000106-HGNC_29812-OMIM_616459-HP_0000007-GENCC_100002"	"HGNC:29812"	"DCPS"	"MONDO:0014648"	"Al-Raqad syndrome"	"OMIM:616459"	"Al-Raqad syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29812"	"DCPS"	"OMIM:616459"	"Al-Raqad syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-17 14:30:01"	""	""	"25701870, 25712129"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCPS0Al-Raqad"	"2023-11-30"
"GENCC_000106-HGNC_2719-OMIM_608643-HP_0000007-GENCC_100002"	"HGNC:2719"	"DDC"	"MONDO:0012084"	"aromatic L-amino acid decarboxylase deficiency"	"OMIM:608643"	"Aromatic L-amino acid decarboxylase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2719"	"DDC"	"OMIM:608643"	"aromatic L-amino acid decarboxylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:48"	""	""	"15079002, 20505134, 24054149, 24788355, 24865461, 25001633, 28973165"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDC0ALAADD"	"2023-11-30"
"GENCC_000106-HGNC_25360-OMIM_174300-HP_0000007-GENCC_100002"	"HGNC:25360"	"DDX59"	"MONDO:0008267"	"orofaciodigital syndrome V"	"OMIM:174300"	"Orofaciodigital syndrome V"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25360"	"DDX59"	"OMIM:174300"	"orofaciodigital syndrome V"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"202638, 23972372, 282862, 28289185, 28454995, 28711741, 29127725, 5620213"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDX590Orofacio"	"2023-11-30"
"GENCC_000106-HGNC_2859-OMIM_602398-HP_0000007-GENCC_100002"	"HGNC:2859"	"DHCR24"	"MONDO:0011217"	"desmosterolosis"	"OMIM:602398"	"Desmosterolosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2859"	"DHCR24"	"OMIM:602398"	"desmosterolosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 13:04:04"	""	""	"11519011, 15577914, 21559050, 21671375, 26275793, 28333917, 29175559, 29302074"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHCR240Desmosterolosis"	"2023-11-30"
"GENCC_000106-HGNC_2910-OMIM_616589-HP_0000006-GENCC_100002"	"HGNC:2910"	"DLL4"	"MONDO:0014703"	"Adams-Oliver syndrome 6"	"OMIM:616589"	"Adams-Oliver syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2910"	"DLL4"	"OMIM:616589"	"Adams-Oliver syndrome 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-05 10:15:28"	""	""	"15520367, 26299364, 262999364, 29924900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLL40Adams-Ol"	"2023-11-30"
"GENCC_000106-HGNC_3092-OMIM_615812-HP_0000006-GENCC_100002"	"HGNC:3092"	"DYRK1B"	"MONDO:0014352"	"abdominal obesity-metabolic syndrome 3"	"OMIM:615812"	"Abdominal obesity-metabolic syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3092"	"DYRK1B"	"OMIM:615812"	"abdominal obesity-metabolic syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 12:38:43"	""	""	"24827035"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYRK1B0Abdomina"	"2023-11-30"
"GENCC_000106-HGNC_3257-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3257"	"EIF2B1"	"MONDO:0020507"	"leukoencephalopathy with vanishing white matter 1"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3257"	"EIF2B1"	"OMIM:603896"	"leukoencephalopathy with vanishing white matter"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"11835386, 25843247, 26285592, 32865661, 33432707"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2B10LVWM"	"2023-11-30"
"GENCC_000106-HGNC_29331-OMIM_242840-HP_0000007-GENCC_100002"	"HGNC:29331"	"EPG5"	"MONDO:0009452"	"Vici syndrome"	"OMIM:242840"	"Vici syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29331"	"EPG5"	"OMIM:242840"	"Vici syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 13:02:58"	""	""	"21965116, 23222957, 23674064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPG50Vici"	"2023-11-30"
"GENCC_000106-HGNC_3527-OMIM_277590-HP_0000006-GENCC_100002"	"HGNC:3527"	"EZH2"	"MONDO:0010193"	"Weaver syndrome"	"OMIM:277590"	"Weaver syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3527"	"EZH2"	"OMIM:277590"	"Weaver syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:16"	""	""	"11390661, 12496962, 19011474, 20101679, 22177091, 22190405, 23239504, 23865096, 24097338, 24214728, 26694085, 26762561, 28229514, 28475857, 29244146"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EZH20Weaver"	"2023-11-30"
"GENCC_000106-HGNC_3606-OMIM_229700-HP_0000007-GENCC_100002"	"HGNC:3606"	"FBP1"	"MONDO:0009251"	"fructose-1,6-bisphosphatase deficiency"	"OMIM:229700"	"Fructose-1,6-bisphosphatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3606"	"FBP1"	"OMIM:229700"	"fructose-1,6-bisphosphatase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 20:32:19"	""	""	"19259699, 27101822, 9382095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBP10Fruc16BiPhos"	"2023-11-30"
"GENCC_000106-HGNC_3631-OMIM_616631-HP_0000006-GENCC_100002"	"HGNC:3631"	"FDPS"	"MONDO:0014713"	"porokeratosis 9, multiple types"	"OMIM:616631"	"Porokeratosis 9, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3631"	"FDPS"	"OMIM:616631"	"porokeratosis 9, multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-05 10:20:56"	""	""	"26202976"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FDPS0Porokera04"	"2023-11-30"
"GENCC_000106-HGNC_3801-OMIM_153400-HP_0000006-GENCC_100002"	"HGNC:3801"	"FOXC2"	"MONDO:0007922"	"lymphedema-distichiasis syndrome"	"OMIM:153400"	"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3801"	"FOXC2"	"OMIM:153400"	"lymphedema-distichiasis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-07 07:59:58"	""	""	"11078474, 11371511, 11499682, 11694548, 12114478, 12719382"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXC20LymphedDistich"	"2023-11-30"
"GENCC_000106-HGNC_4006-OMIM_230000-HP_0000007-GENCC_100002"	"HGNC:4006"	"FUCA1"	"MONDO:0009254"	"fucosidosis"	"OMIM:230000"	"Fucosidosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4006"	"FUCA1"	"OMIM:230000"	"fucosidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:25:20"	""	""	"10094192, 18651239, 2012122, 8401503, 9039984"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FUCA10Fucosidosis"	"2023-11-30"
"GENCC_000106-HGNC_4115-OMIM_245200-HP_0000007-GENCC_100002"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"OMIM:245200"	"Krabbe disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4115"	"GALC"	"OMIM:245200"	"Krabbe disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 07:37:52"	""	""	"10448809, 16607461, 7437911, 8786069, 9272171"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALC0Krabbe"	"2023-11-30"
"GENCC_000106-HGNC_4118-OMIM_230200-HP_0000007-GENCC_100002"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"galactokinase deficiency"	"OMIM:230200"	"Galactokinase deficiency with cataracts"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4118"	"GALK1"	"OMIM:230200"	"galactokinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"10790206, 230200, 7670469"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALK10Galactokinase"	"2023-11-30"
"GENCC_000106-HGNC_4313-OMIM_605899-HP_0000007-GENCC_100002"	"HGNC:4313"	"GLDC"	"MONDO:0011612"	"glycine encephalopathy"	"OMIM:605899"	"Glycine encephalopathy1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4313"	"GLDC"	"OMIM:605899"	"glycine encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"16601880, 605899"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLDC0GlyEnceph02"	"2023-11-30"
"GENCC_000106-HGNC_17493-OMIM_616835-HP_0000006-GENCC_100002"	"HGNC:17493"	"GMNN"	"MONDO:0014794"	"Meier-Gorlin syndrome 6"	"OMIM:616835"	"Meier-Gorlin syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17493"	"GMNN"	"OMIM:616835"	"Meier-Gorlin syndrome 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:20"	""	""	"26637980"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GMNN0Meier-Go"	"2023-11-30"
"GENCC_000106-HGNC_4415-OMIM_606664-HP_0000007-GENCC_100002"	"HGNC:4415"	"GNMT"	"MONDO:0011698"	"glycine N-methyltransferase deficiency"	"OMIM:606664"	"Glycine N-methyltransferase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4415"	"GNMT"	"OMIM:606664"	"glycine n-methyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"INVITAE"	"GENCC:100002"	"STRONG"	"2019-03-29 00:00:00"	""	""	"26990548, 27207470, 14739680, 11810299, 17937387"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/700"	"GNMT0GlyNMethyl"	"2021-05-25"
"GENCC_000106-HGNC_4623-OMIM_618660-HP_0000007-GENCC_100002"	"HGNC:4623"	"GSR"	"MONDO:0019531"	"hemolytic anemia due to glutathione reductase deficiency"	"OMIM:618660"	"Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4623"	"GSR"	"OMIM:618660"	"hemolytic anemia due to glutathione reductase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:53"	""	""	"17185460"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GSR0Hemolyti06"	"2023-11-30"
"GENCC_000106-HGNC_4651-OMIM_616943-HP_0000007-GENCC_100002"	"HGNC:4651"	"GTF2E2"	"MONDO:0014841"	"trichothiodystrophy 6, nonphotosensitive"	"OMIM:616943"	"Trichothiodystrophy 6, nonphotosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4651"	"GTF2E2"	"OMIM:616943"	"trichothiodystrophy 6, nonphotosensitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 22:16:57"	""	""	"26996949, 28973399"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GTF2E20Trichoth"	"2023-11-30"
"GENCC_000106-HGNC_4670-OMIM_617988-HP_0000007-GENCC_100002"	"HGNC:4670"	"GTPBP2"	"MONDO:0060711"	"Jaberi-Elahi syndrome"	"OMIM:617988"	"Jaberi-Elahi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4670"	"GTPBP2"	"OMIM:617988"	"Jaberi-Elahi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-22 07:53:40"	""	""	"26675814, 28454995, 29449720, 30790272"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GTPBP20JABELS"	"2023-11-30"
"GENCC_000106-HGNC_4803-OMIM_609015-HP_0000007-GENCC_100002"	"HGNC:4803"	"HADHB"	"MONDO:0012172"	"mitochondrial trifunctional protein deficiency"	"OMIM:609015"	"Mitochondrial trifunctional protein deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4803"	"HADHB"	"OMIM:609015"	"mitochondrial trifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 13:02:24"	""	""	"12754706, 609015, 9259266"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HADHB0MitoTriFunc"	"2023-11-30"
"GENCC_000106-HGNC_4867-OMIM_617011-HP_0000007-GENCC_100002"	"HGNC:4867"	"HERC1"	"MONDO:0014863"	"macrocephaly, dysmorphic facies, and psychomotor retardation"	"OMIM:617011"	"Macrocephaly, dysmorphic facies, and psychomotor retardation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4867"	"HERC1"	"OMIM:617011"	"macrocephaly, dysmorphic facies, and psychomotor retardation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-19 12:31:37"	""	""	"26138117, 26153217, 27108999, 28323226"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HERC10Macrocep"	"2023-11-30"
"GENCC_000106-HGNC_4879-OMIM_268800-HP_0000007-GENCC_100002"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"OMIM:268800"	"Sandhoff disease, infantile, juvenile, and adult forms"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4879"	"HEXB"	"OMIM:268800"	"Sandhoff disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-20 18:34:10"	""	""	"18758829, 268800, 7550345"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HEXB0Sandhoff02"	"2023-11-30"
"GENCC_000106-HGNC_4976-OMIM_253270-HP_0000007-GENCC_100002"	"HGNC:4976"	"HLCS"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"OMIM:253270"	"Holocarboxylase synthetase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4976"	"HLCS"	"OMIM:253270"	"holocarboxylase synthetase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-20 18:07:03"	""	""	"16134170, 253270"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HLCS0HLCSDef02"	"2023-11-30"
"GENCC_000106-HGNC_5017-OMIM_612109-HP_0000007-GENCC_100002"	"HGNC:5017"	"HMX1"	"MONDO:0012802"	"oculoauricular syndrome"	"OMIM:612109"	"Oculoauricular syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5017"	"HMX1"	"OMIM:612109"	"oculoauricular syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:46"	""	""	"18423520, 19379485, 25574057, 29140751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMX10Oculoauricular"	"2023-11-30"
"GENCC_000106-HGNC_5209-OMIM_218030-HP_0000007-GENCC_100002"	"HGNC:5209"	"HSD11B2"	"MONDO:0009025"	"apparent mineralocorticoid excess"	"OMIM:218030"	"Apparent mineralocorticoid excess"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5209"	"HSD11B2"	"OMIM:218030"	"apparent mineralocorticoid excess"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-04 14:14:13"	""	""	"12860834, 15134813, 17314322"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSD11B20Apparent"	"2023-11-30"
"GENCC_000106-HGNC_6080-OMIM_258480-HP_0000007-GENCC_100002"	"HGNC:6080"	"INPPL1"	"MONDO:0009785"	"opsismodysplasia"	"OMIM:258480"	"Opsismodysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6080"	"INPPL1"	"OMIM:258480"	"opsismodysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-08 13:53:26"	""	""	"15654325, 23273567, 23273569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INPPL10Opsismodys"	"2023-11-30"
"GENCC_000106-HGNC_14203-OMIM_606438-HP_0000006-GENCC_100002"	"HGNC:14203"	"JPH3"	"MONDO:0011671"	"Huntington disease-like 2"	"OMIM:606438"	"Huntington disease-like 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14203"	"JPH3"	"OMIM:606438"	"Huntington disease-like 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:14"	""	""	"11694876, 21555070, 22447335, 27288455"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JPH30Huntingt"	"2023-11-30"
"GENCC_000106-HGNC_6267-OMIM_614098-HP_0000006-GENCC_100002"	"HGNC:6267"	"KCNJ6"	"MONDO:0013572"	"Keppen-Lubinsky syndrome"	"OMIM:614098"	"Keppen-Lubinsky syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6267"	"KCNJ6"	"OMIM:614098"	"Keppen-Lubinsky syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-26 13:51:19"	""	""	"25620207, 29852244"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ60Keppen-L"	"2023-11-30"
"GENCC_000106-HGNC_6293-OMIM_616689-HP_0000006-GENCC_100002"	"HGNC:6293"	"KCNN4"	"MONDO:0014737"	"dehydrated hereditary stomatocytosis 2"	"OMIM:616689"	"Dehydrated hereditary stomatocytosis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6293"	"KCNN4"	"OMIM:616689"	"dehydrated hereditary stomatocytosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 19:49:39"	""	""	"26148990, 26178367, 26198474, 27443288"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNN40DehydratStom"	"2023-11-30"
"GENCC_000106-HGNC_18249-OMIM_181270-HP_0000006-GENCC_100002"	"HGNC:18249"	"KCTD1"	"MONDO:0008404"	"scalp-ear-nipple syndrome"	"OMIM:181270"	"Scalp-ear-nipple syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18249"	"KCTD1"	"OMIM:181270"	"scalp-ear-nipple syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-24 17:52:18"	""	""	"23541344, 31324836"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCTD10Scalp-Ea"	"2023-11-30"
"GENCC_000106-HGNC_33699-OMIM_614293-HP_0000007-GENCC_100002"	"HGNC:33699"	"KHDC3L"	"MONDO:0013671"	"hydatidiform mole, recurrent, 2"	"OMIM:614293"	"Hydatidiform mole, recurrent, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33699"	"KHDC3L"	"OMIM:614293"	"hydatidiform mole, recurrent, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 21:02:13"	""	""	"19246479, 19376971, 21885028, 23125094, 23232697, 27621838, 29606347, 30388401"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KHDC3L0Hydatidi"	"2023-11-30"
"GENCC_000106-HGNC_6388-OMIM_152950-HP_0000006-GENCC_100002"	"HGNC:6388"	"KIF11"	"MONDO:0007918"	"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	"OMIM:152950"	"Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6388"	"KIF11"	"OMIM:152950"	"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-27 23:22:54"	""	""	"17449012, 22284827, 24281367"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF110MLCRD"	"2023-11-30"
"GENCC_000106-HGNC_24054-OMIM_604321-HP_0000007-GENCC_100002"	"HGNC:24054"	"KNL1"	"MONDO:0011437"	"microcephaly 4, primary, autosomal recessive"	"OMIM:604321"	"Microcephaly 4, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24054"	"KNL1"	"OMIM:604321"	"microcephaly 4, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:49"	""	""	"22983954, 26621532, 26626498, 27149178, 27784895, 28454995, 31175295, 33084842"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KNL10Microcep05"	"2023-11-30"
"GENCC_000106-HGNC_20499-OMIM_236792-HP_0000007-GENCC_100002"	"HGNC:20499"	"L2HGDH"	"MONDO:0009370"	"L-2-hydroxyglutaric aciduria"	"OMIM:236792"	"L-2-hydroxyglutaric aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20499"	"L2HGDH"	"OMIM:236792"	"L-2-hydroxyglutaric aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:59:59"	""	""	"16134148, 17475916, 20052767, 22391998"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"L2HGDH0L2HydroxyGlut"	"2023-11-30"
"GENCC_000106-HGNC_14450-OMIM_609628-HP_0000007-GENCC_100002"	"HGNC:14450"	"LPIN2"	"MONDO:0012316"	"Majeed syndrome"	"OMIM:609628"	"Majeed syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14450"	"LPIN2"	"OMIM:609628"	"Majeed syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-23 19:17:07"	""	""	"15994876, 23087183"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LPIN20Majeed"	"2023-11-30"
"GENCC_000106-HGNC_6694-OMIM_222448-HP_0000007-GENCC_100002"	"HGNC:6694"	"LRP2"	"MONDO:0009104"	"Donnai-Barrow syndrome"	"OMIM:222448"	"Donnai-Barrow syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6694"	"LRP2"	"OMIM:222448"	"Donnai-Barrow syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-28 21:45:44"	""	""	"17632512, 25682901, 8710893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP20DBS"	"2023-11-30"
"GENCC_000106-HGNC_6701-OMIM_615431-HP_0000007-GENCC_100002"	"HGNC:6701"	"LRPAP1"	"MONDO:0014183"	"myopia 23, autosomal recessive"	"OMIM:615431"	"Myopia 23, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6701"	"LRPAP1"	"OMIM:615431"	"myopia 23, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23830514, 25525168"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRPAP10Myopia23"	"2023-11-30"
"GENCC_000106-HGNC_25897-OMIM_616486-HP_0000007-GENCC_100002"	"HGNC:25897"	"MFSD2A"	"MONDO:0014660"	"microcephaly 15, primary, autosomal recessive"	"OMIM:616486"	"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25897"	"MFSD2A"	"OMIM:616486"	"microcephaly 15, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-21 06:50:49"	""	""	"26005865, 26005868, 27457812, 29302074, 30043326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MFSD2A0Microcep03"	"2023-11-30"
"GENCC_000106-HGNC_7060-OMIM_245150-HP_0000007-GENCC_100002"	"HGNC:7060"	"MGP"	"MONDO:0009495"	"Keutel syndrome"	"OMIM:245150"	"Keutel syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7060"	"MGP"	"OMIM:245150"	"Keutel syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 08:49:31"	""	""	"15810001, 21435166, 24458983, 9052783, 9916809"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MGP0KTLS"	"2023-11-30"
"GENCC_000106-HGNC_31555-OMIM_614303-HP_0000006-GENCC_100002"	"HGNC:31555"	"MIR184"	"MONDO:0013678"	"EDICT syndrome"	"OMIM:614303"	"EDICT syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31555"	"MIR184"	"OMIM:614303"	"EDICT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:27"	""	""	"21996275, 22131394, 23833072, 24138095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIR1840EDICT"	"2023-11-30"
"GENCC_000106-HGNC_7114-OMIM_615346-HP_0000006-GENCC_100002"	"HGNC:7114"	"MKRN3"	"MONDO:0014137"	"precocious puberty, central, 2"	"OMIM:615346"	"Precocious puberty, central, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7114"	"MKRN3"	"OMIM:615346"	"precocious puberty, central, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-09 13:07:31"	""	""	"23738509, 2462854, 24628548"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MKRN30CPP"	"2023-11-30"
"GENCC_000106-HGNC_21606-OMIM_614741-HP_0000007-GENCC_100002"	"HGNC:21606"	"MPC1"	"MONDO:0013877"	"mitochondrial pyruvate carrier deficiency"	"OMIM:614741"	"Mitochondrial pyruvate carrier deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21606"	"MPC1"	"OMIM:614741"	"mitochondrial pyruvate carrier deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-03 09:07:26"	""	""	"22628558"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPC10MitoPyruvDef"	"2023-11-30"
"GENCC_000106-HGNC_1304-OMIM_607398-HP_0000007-GENCC_100002"	"HGNC:1304"	"MRAP"	"MONDO:0011826"	"glucocorticoid deficiency 2"	"OMIM:607398"	"Glucocorticoid deficiency 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1304"	"MRAP"	"OMIM:607398"	"glucocorticoid deficiency 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"15654338, 16868047, 17161331"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRAP0Glucocor02"	"2023-11-30"
"GENCC_000106-HGNC_7467-OMIM_200100-HP_0000007-GENCC_100002"	"HGNC:7467"	"MTTP"	"MONDO:0008692"	"abetalipoproteinemia"	"OMIM:200100"	"Abetalipoproteinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7467"	"MTTP"	"OMIM:200100"	"abetalipoproteinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 17:51:12"	""	""	"10679949, 18611256, 8533758, 9671739"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTTP0MTTPrel"	"2023-11-30"
"GENCC_000106-HGNC_951-OMIM_613330-HP_0000007-GENCC_100002"	"HGNC:951"	"NKX3-2"	"MONDO:0013228"	"spondylo-megaepiphyseal-metaphyseal dysplasia"	"OMIM:613330"	"Spondylo-megaepiphyseal-metaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:951"	"NKX3-2"	"OMIM:613330"	"spondylo-megaepiphyseal-metaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:48"	""	""	"10449756, 10886375, 20004766, 29704686"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NKX3-20SMMD"	"2023-11-30"
"GENCC_000106-HGNC_7967-OMIM_617049-HP_0000007-GENCC_100002"	"HGNC:7967"	"NR1H4"	"MONDO:0014884"	"cholestasis, progressive familial intrahepatic, 5"	"OMIM:617049"	"Cholestasis, progressive familial intrahepatic, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7967"	"NR1H4"	"OMIM:617049"	"cholestasis, progressive familial intrahepatic, 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"11030617, 17681172, 21633855, 26888176, 30366773"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR1H40Cholesta"	"2023-11-30"
"GENCC_000106-HGNC_8565-OMIM_164300-HP_0000006-GENCC_100002"	"HGNC:8565"	"PABPN1"	"MONDO:0008116"	"oculopharyngeal muscular dystrophy"	"OMIM:164300"	"Oculopharyngeal muscular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8565"	"PABPN1"	"OMIM:164300"	"oculopharyngeal muscular dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 19:23:23"	""	""	"14645203, 16648376, 21742497, 9462747"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PABPN10OMD"	"2023-11-30"
"GENCC_000106-HGNC_15791-OMIM_618590-HP_0000007-GENCC_100002"	"HGNC:15791"	"PIGU"	"MONDO:0032824"	"glycosylphosphatidylinositol biosynthesis defect 21"	"OMIM:618590"	"Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15791"	"PIGU"	"OMIM:618590"	"glycosylphosphatidylinositol biosynthesis defect 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-23 12:01:36"	""	""	"29100095, 31353022"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGU0PIGUrel"	"2023-11-30"
"GENCC_000106-HGNC_9364-OMIM_208250-HP_0000007-GENCC_100002"	"HGNC:9364"	"PRG4"	"MONDO:0008828"	"camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"OMIM:208250"	"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9364"	"PRG4"	"OMIM:208250"	"camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-29 12:06:57"	""	""	"10545950, 15719068, 16429407, 31680123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRG40Camptoda"	"2023-11-30"
"GENCC_000106-HGNC_9587-OMIM_151050-HP_0000006-GENCC_100002"	"HGNC:9587"	"PTDSS1"	"MONDO:0007892"	"Lenz-Majewski hyperostotic dwarfism"	"OMIM:151050"	"Lenz-Majewski hyperostotic dwarfism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9587"	"PTDSS1"	"OMIM:151050"	"Lenz-Majewski hyperostotic dwarfism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-03 15:49:29"	""	""	"24241535, 26117586, 27044099, 29341480, 31403251, 35088901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTDSS10LMHD"	"2023-11-30"
"GENCC_000106-HGNC_16075-OMIM_615222-HP_0000007-GENCC_100002"	"HGNC:16075"	"RAB33B"	"MONDO:0014087"	"Smith-McCort dysplasia 2"	"OMIM:615222"	"Smith-McCort dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16075"	"RAB33B"	"OMIM:615222"	"Smith-McCort dysplasia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-20 11:55:42"	""	""	"22652534, 23042644, 28127940, 34000439, 34284742"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB33B0Smith-Mc"	"2023-11-30"
"GENCC_000106-HGNC_9896-OMIM_311900-HP_0001417-GENCC_100002"	"HGNC:9896"	"RBM10"	"MONDO:0010711"	"TARP syndrome"	"OMIM:311900"	"TARP syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9896"	"RBM10"	"OMIM:311900"	"TARP syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 13:47:39"	""	""	"20451169, 24259342"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBM100TarpSynd"	"2023-11-30"
"GENCC_000106-HGNC_26661-OMIM_611943-HP_0000007-GENCC_100002"	"HGNC:26661"	"RNF168"	"MONDO:0012764"	"RIDDLE syndrome"	"OMIM:611943"	"RIDDLE syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26661"	"RNF168"	"OMIM:611943"	"RIDDLE syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"19203578, 21394101, 29255463"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF1680RIDDLE"	"2023-11-30"
"GENCC_000106-HGNC_10535-OMIM_246700-HP_0000007-GENCC_100002"	"HGNC:10535"	"SAR1B"	"MONDO:0009528"	"chylomicron retention disease"	"OMIM:246700"	"Chylomicron retention disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10535"	"SAR1B"	"OMIM:246700"	"chylomicron retention disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"12692552, 17945526, 19846172, 21235735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAR1B0Chylomic"	"2023-11-30"
"GENCC_000106-HGNC_10547-OMIM_607330-HP_0000007-GENCC_100002"	"HGNC:10547"	"SC5D"	"MONDO:0011816"	"lathosterolosis"	"OMIM:607330"	"Lathosterolosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10547"	"SC5D"	"OMIM:607330"	"lathosterolosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 18:32:51"	""	""	"12189593, 12812989, 24142275, 30097991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SC5D0Lathoste"	"2023-11-30"
"GENCC_000106-HGNC_33867-OMIM_252011-HP_0000007-GENCC_100002"	"HGNC:33867"	"SDHAF1"	"MONDO:0100294"	"mitochondrial complex II deficiency, nuclear type 1"	"OMIM:252011"	"Mitochondrial complex II deficiency, nuclear type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33867"	"SDHAF1"	"OMIM:252011"	"mitochondrial complex II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-22 10:44:15"	""	""	"19465911, 22995659, 23322652, 26642834, 26749241"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHAF10ComplexIIDef"	"2023-11-30"
"GENCC_000106-HGNC_13902-OMIM_615598-HP_0000007-GENCC_100002"	"HGNC:13902"	"SERPINB7"	"MONDO:0014272"	"palmoplantar keratoderma, Nagashima type"	"OMIM:615598"	"Palmoplantar keratoderma, Nagashima type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13902"	"SERPINB7"	"OMIM:615598"	"palmoplantar keratoderma, Nagashima type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-12 21:27:02"	""	""	"24207119, 24514002, 24773080, 27569382, 28439958, 30256384"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINB70Palmopla04"	"2023-11-30"
"GENCC_000106-HGNC_10825-OMIM_118400-HP_0000006-GENCC_100002"	"HGNC:10825"	"SH3BP2"	"MONDO:0007315"	"cherubism"	"OMIM:118400"	"Cherubism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10825"	"SH3BP2"	"OMIM:118400"	"cherubism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:27"	""	""	"11381256, 12900899, 17147794, 17321449, 17368082, 19038533, 22153076, 22153077, 22640988, 24382142, 24916406, 26064398"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SH3BP20Cherubism"	"2023-11-30"
"GENCC_000106-HGNC_29242-OMIM_249420-HP_0000007-GENCC_100002"	"HGNC:29242"	"SH3PXD2B"	"MONDO:0009579"	"Frank-Ter Haar syndrome"	"OMIM:249420"	"Frank-ter Haar syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29242"	"SH3PXD2B"	"OMIM:249420"	"Frank-Ter Haar syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:51:35"	""	""	"20137777, 23140272, 24105366, 245714, 25186178, 28694206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SH3PXD2B0FTHS"	"2023-11-30"
"GENCC_000106-HGNC_24624-OMIM_248800-HP_0000007-GENCC_100002"	"HGNC:24624"	"SIL1"	"MONDO:0009567"	"Marinesco-Sjogren syndrome"	"OMIM:248800"	"Marinesco-Sjogren syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24624"	"SIL1"	"OMIM:248800"	"Marinesco-Sjogren syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"16282977, 16282978, 19440741, 24176978"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIL10Marinesco0Sjogren"	"2023-11-30"
"GENCC_000106-HGNC_10912-OMIM_263800-HP_0000007-GENCC_100002"	"HGNC:10912"	"SLC12A3"	"MONDO:0009904"	"Gitelman syndrome"	"OMIM:263800"	"Gitelman syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10912"	"SLC12A3"	"OMIM:263800"	"Gitelman syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-06 13:57:56"	""	""	"11408395, 20848653, 22009145, 22169961, 25841442, 25984200, 27798456, 8528245"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC12A30Gitelman"	"2023-11-30"
"GENCC_000106-HGNC_10998-OMIM_608649-HP_0000007-GENCC_100002"	"HGNC:10998"	"SLC27A4"	"MONDO:0012089"	"ichthyosis prematurity syndrome"	"OMIM:608649"	"Ichthyosis prematurity syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10998"	"SLC27A4"	"OMIM:608649"	"ichthyosis prematurity syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:58:18"	""	""	"19631310, 21450060"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC27A40Ichthyos017"	"2023-11-30"
"GENCC_000106-HGNC_11020-OMIM_265100-HP_0000007-GENCC_100002"	"HGNC:11020"	"SLC34A2"	"MONDO:0009928"	"pulmonary alveolar microlithiasis"	"OMIM:265100"	"Pulmonary alveolar microlithiasis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11020"	"SLC34A2"	"OMIM:265100"	"pulmonary alveolar microlithiasis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 15:46:17"	""	""	"16960801"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC34A20Pulmonar"	"2023-11-30"
"GENCC_000106-HGNC_20800-OMIM_269250-HP_0000007-GENCC_100002"	"HGNC:20800"	"SLC35D1"	"MONDO:0010013"	"schneckenbecken dysplasia"	"OMIM:269250"	"Schneckenbecken dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20800"	"SLC35D1"	"OMIM:269250"	"schneckenbecken dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 20:08:40"	""	""	"17952091, 19508970"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC35D10Schneckenbecken"	"2023-11-30"
"GENCC_000106-HGNC_25763-OMIM_616920-HP_0000007-GENCC_100002"	"HGNC:25763"	"SMG9"	"MONDO:0014833"	"heart and brain malformation syndrome"	"OMIM:616920"	"Heart and brain malformation syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25763"	"SMG9"	"OMIM:616920"	"heart and brain malformation syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-23 12:17:00"	""	""	"27018474"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMG90HeartAnd"	"2023-11-30"
"GENCC_000106-HGNC_11201-OMIM_616803-HP_0000006-GENCC_100002"	"HGNC:11201"	"SOX5"	"MONDO:0014778"	"Lamb-Shaffer syndrome"	"OMIM:616803"	"Lamb-Shaffer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11201"	"SOX5"	"OMIM:616803"	"Lamb-Shaffer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-18 16:15:08"	""	""	"22290657, 26111154, 31578471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX50Lamb-Sha"	"2023-11-30"
"GENCC_000106-HGNC_16950-OMIM_614261-HP_0000007-GENCC_100002"	"HGNC:16950"	"STAMBP"	"MONDO:0013659"	"microcephaly-capillary malformation syndrome"	"OMIM:614261"	"Microcephaly-capillary malformation syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16950"	"STAMBP"	"OMIM:614261"	"microcephaly-capillary malformation syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-14 15:43:52"	""	""	"23542699, 249812, 25266620, 25692795, 282894"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAMBP0MCM"	"2023-11-30"
"GENCC_000106-HGNC_11559-OMIM_606003-HP_0000007-GENCC_100002"	"HGNC:11559"	"TALDO1"	"MONDO:0011624"	"transaldolase deficiency"	"OMIM:606003"	"Transaldolase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11559"	"TALDO1"	"OMIM:606003"	"transaldolase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-13 21:32:52"	""	""	"11283793, 17003133, 21119539, 23315216, 25388407, 26238251, 30740741"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TALDO10TALDeficiency"	"2023-11-30"
"GENCC_000106-HGNC_21066-OMIM_248000-HP_0000007-GENCC_100002"	"HGNC:21066"	"TBC1D7"	"MONDO:0009544"	"macrocephaly/megalencephaly syndrome, autosomal recessive"	"OMIM:248000"	"Macrocephaly/megalencephaly syndrome, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21066"	"TBC1D7"	"OMIM:248000"	"macrocephaly/megalencephaly syndrome, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"23687350, 24515783"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBC1D70Macrocep03"	"2023-11-30"
"GENCC_000106-HGNC_11602-OMIM_181450-HP_0000006-GENCC_100002"	"HGNC:11602"	"TBX3"	"MONDO:0008411"	"ulnar-mammary syndrome"	"OMIM:181450"	"Ulnar-mammary syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11602"	"TBX3"	"OMIM:181450"	"ulnar-mammary syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-09 13:59:39"	""	""	"10330342, 12116211, 12668170, 16896345, 19938096, 25328580, 28145909, 9207801"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX30UlnarMamm"	"2023-11-30"
"GENCC_000106-HGNC_11653-OMIM_275350-HP_0000007-GENCC_100002"	"HGNC:11653"	"TCN2"	"MONDO:0010149"	"transcobalamin II deficiency"	"OMIM:275350"	"Transcobalamin II deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11653"	"TCN2"	"OMIM:275350"	"transcobalamin II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-10 21:52:24"	""	""	"20352340, 25914105, 7980584"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCN20TCB2"	"2023-11-30"
"GENCC_000106-HGNC_20324-OMIM_616145-HP_0000007-GENCC_100002"	"HGNC:20324"	"TGDS"	"MONDO:0014507"	"Catel-Manzke syndrome"	"OMIM:616145"	"Catel-Manzke syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20324"	"TGDS"	"OMIM:616145"	"Catel-Manzke syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-03 12:26:29"	""	""	"25480037, 26366375, 28422407"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGDS0Catel-Ma"	"2023-11-30"
"GENCC_000106-HGNC_7523-OMIM_253250-HP_0000007-GENCC_100002"	"HGNC:7523"	"TRIM37"	"MONDO:0009664"	"mulibrey nanism"	"OMIM:253250"	"Mulibrey nanism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7523"	"TRIM37"	"OMIM:253250"	"mulibrey nanism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-18 19:53:08"	""	""	"10888877, 14757854, 15108285, 17551331, 23385855, 251418, 251454, 251466, 27044324"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIM370MulibreyNanism"	"2023-11-30"
"GENCC_000106-HGNC_16808-OMIM_243800-HP_0000007-GENCC_100002"	"HGNC:16808"	"UBR1"	"MONDO:0009479"	"Johanson-Blizzard syndrome"	"OMIM:243800"	"Johanson-Blizzard syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16808"	"UBR1"	"OMIM:243800"	"Johanson-Blizzard syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 12:59:03"	""	""	"24599544"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBR10Johanson"	"2023-11-30"
"GENCC_000106-HGNC_12563-OMIM_258900-HP_0000007-GENCC_100002"	"HGNC:12563"	"UMPS"	"MONDO:0009797"	"orotic aciduria"	"OMIM:258900"	"Orotic aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12563"	"UMPS"	"OMIM:258900"	"orotic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"714281, 28205048, 8486364, 9042911"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UMPS0OroticAdic"	"2023-11-30"
"GENCC_000106-HGNC_29304-OMIM_614640-HP_0000007-GENCC_100002"	"HGNC:29304"	"UVSSA"	"MONDO:0013834"	"UV-sensitive syndrome 3"	"OMIM:614640"	"UV-sensitive syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29304"	"UVSSA"	"OMIM:614640"	"UV-sensitive syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22466610"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UVSSA0Uv-Sensi"	"2023-11-30"
"GENCC_000106-HGNC_28052-OMIM_613159-HP_0000007-GENCC_100002"	"HGNC:28052"	"XPNPEP3"	"MONDO:0013163"	"nephronophthisis-like nephropathy 1"	"OMIM:613159"	"Nephronophthisis-like nephropathy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28052"	"XPNPEP3"	"OMIM:613159"	"nephronophthisis-like nephropathy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"20179356"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XPNPEP30NLN1"	"2023-11-30"
"GENCC_000106-HGNC_12831-OMIM_616541-HP_0000007-GENCC_100002"	"HGNC:12831"	"XRCC4"	"MONDO:0014686"	"short stature, microcephaly, and endocrine dysfunction"	"OMIM:616541"	"Short stature, microcephaly, and endocrine dysfunction"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12831"	"XRCC4"	"OMIM:616541"	"short stature, microcephaly, and endocrine dysfunction"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"25728776, 25839420, 9875844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XRCC40ShortSta04"	"2023-11-30"
"GENCC_000106-HGNC_30935-OMIM_602531-HP_0000007-GENCC_100002"	"HGNC:30935"	"YY1AP1"	"MONDO:0011243"	"grange syndrome"	"OMIM:602531"	"Grange syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30935"	"YY1AP1"	"OMIM:602531"	"grange syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-13 19:17:50"	""	""	"27939641, 30556293, 31270375, 37698238"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YY1AP10GrangeSyn"	"2023-11-30"
"GENCC_000106-HGNC_23-OMIM_613163-HP_0000007-GENCC_100002"	"HGNC:23"	"ABAT"	"MONDO:0013166"	"GABA aminotransaminase deficiency"	"OMIM:613163"	"GABA-transaminase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23"	"ABAT"	"OMIM:613163"	"GABA aminotransaminase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"10407778, 20052547, 25738457, 28411234, 9746906"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABAT0GABAtransamDef"	"2023-11-30"
"GENCC_000106-HGNC_21396-OMIM_275630-HP_0000007-GENCC_100002"	"HGNC:21396"	"ABHD5"	"MONDO:0010155"	"Dorfman-Chanarin disease"	"OMIM:275630"	"Chanarin-Dorfman syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21396"	"ABHD5"	"OMIM:275630"	"Dorfman-Chanarin disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 11:17:17"	""	""	"11590543, 15967942, 20023287, 26701953"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABHD50Chanarin"	"2023-11-30"
"GENCC_000106-HGNC_17109-OMIM_613195-HP_0000007-GENCC_100002"	"HGNC:17109"	"ADAMTS17"	"MONDO:0013176"	"Weill-Marchesani 4 syndrome, recessive"	"OMIM:613195"	"Weill-Marchesani 4 syndrome, recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17109"	"ADAMTS17"	"OMIM:613195"	"Weill-Marchesani 4 syndrome, recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-17 13:34:37"	""	""	"19836009, 24940034"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTS170Weill-Ma"	"2023-11-30"
"GENCC_000106-HGNC_17869-OMIM_616368-HP_0000006-GENCC_100002"	"HGNC:17869"	"AFF4"	"MONDO:0014609"	"cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome"	"OMIM:616368"	"CHOPS syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17869"	"AFF4"	"OMIM:616368"	"cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:56"	""	""	"15459319, 25730767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AFF40CHOPS"	"2023-11-30"
"GENCC_000106-HGNC_25230-OMIM_615829-HP_0000006-GENCC_100002"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"OMIM:615829"	"Xia-Gibbs syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25230"	"AHDC1"	"OMIM:615829"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:10:57"	""	""	"24791903, 27148574, 29696776, 30152016, 34950897, 36054313"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AHDC10Xia-Gibb"	"2023-11-30"
"GENCC_000106-HGNC_388-OMIM_235555-HP_0000007-GENCC_100002"	"HGNC:388"	"AKR1D1"	"MONDO:0009339"	"congenital bile acid synthesis defect 2"	"OMIM:235555"	"Bile acid synthesis defect, congenital, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:388"	"AKR1D1"	"OMIM:235555"	"congenital bile acid synthesis defect 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 19:12:37"	""	""	"12970144, 15030995, 19175828, 20522910, 21185810, 23323017, 23679950"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKR1D10BileAcid02"	"2023-11-30"
"GENCC_000106-HGNC_395-OMIM_612740-HP_0000007-GENCC_100002"	"HGNC:395"	"ALAD"	"MONDO:0013000"	"porphyria due to ALA dehydratase deficiency"	"OMIM:612740"	"{Lead poisoning, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:395"	"ALAD"	"OMIM:612740"	"porphyria due to ALA dehydratase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"10519994, 10706561, 11071662, 1569184, 16343966, 2063868"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALAD0Porphyri"	"2023-11-30"
"GENCC_000106-HGNC_565-OMIM_600740-HP_0000006-GENCC_100002"	"HGNC:565"	"AP2S1"	"MONDO:0010926"	"familial hypocalciuric hypercalcemia 3"	"OMIM:600740"	"Hypocalciuric hypercalcemia, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:565"	"AP2S1"	"OMIM:600740"	"familial hypocalciuric hypercalcemia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:57"	""	""	"23222959, 24731014, 26082470, 26963950, 28176280, 29325022"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP2S10Hypocalc03"	"2023-11-30"
"GENCC_000106-HGNC_15984-OMIM_208920-HP_0000007-GENCC_100002"	"HGNC:15984"	"APTX"	"MONDO:0008842"	"ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"	"OMIM:208920"	"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15984"	"APTX"	"OMIM:208920"	"ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:34:34"	""	""	"15596775, 15719174, 15852392, 21465257, 23183622, 26285866"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APTX0EAOH"	"2023-11-30"
"GENCC_000106-HGNC_713-OMIM_250100-HP_0000007-GENCC_100002"	"HGNC:713"	"ARSA"	"MONDO:0009591"	"metachromatic leukodystrophy, juvenile form"	"OMIM:250100"	"Metachromatic leukodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:713"	"ARSA"	"OMIM:250100"	"metachromatic leukodystrophy, juvenile form"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:59:57"	""	""	"10477432, 18693274, 8962139"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARSA0MetachromLeuk"	"2023-11-30"
"GENCC_000106-HGNC_29561-OMIM_617020-HP_0000007-GENCC_100002"	"HGNC:29561"	"ARV1"	"MONDO:0014868"	"developmental and epileptic encephalopathy, 38"	"OMIM:617020"	"Developmental and epileptic encephalopathy 38"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29561"	"ARV1"	"OMIM:617020"	"developmental and epileptic encephalopathy, 38"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-15 13:55:47"	""	""	"25558065, 27270415, 27513193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARV10Epilepti"	"2023-11-30"
"GENCC_000106-HGNC_29357-OMIM_615485-HP_0000006-GENCC_100002"	"HGNC:29357"	"ASXL3"	"MONDO:0014205"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"OMIM:615485"	"Bainbridge-Ropers syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29357"	"ASXL3"	"OMIM:615485"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-11 19:38:31"	""	""	"23383720, 25131622, 25590979, 26647312, 28100473"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASXL30Bainbridge"	"2023-11-30"
"GENCC_000106-HGNC_20207-OMIM_261540-HP_0000007-GENCC_100002"	"HGNC:20207"	"B3GLCT"	"MONDO:0009856"	"Peters plus syndrome"	"OMIM:261540"	"Peters-plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20207"	"B3GLCT"	"OMIM:261540"	"Peters plus syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 12:22:25"	""	""	"16909395, 18199743, 18798333, 23889335"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B3GLCT0PetersPlus"	"2023-11-30"
"GENCC_000106-HGNC_932-OMIM_607748-HP_0000007-GENCC_100002"	"HGNC:932"	"BAAT"	"MONDO:0031446"	"hypercholanemia, familial 1"	"OMIM:607748"	"Hypercholanemia, familial 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:932"	"BAAT"	"OMIM:607748"	"familial hypercholanemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-19 08:21:36"	""	""	"12704386, 22089923, 23415802, 27124789"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BAAT0Hypercho"	"2023-11-30"
"GENCC_000106-HGNC_11551-OMIM_616202-HP_0000007-GENCC_100002"	"HGNC:11551"	"BRF1"	"MONDO:0014529"	"cerebellar-facial-dental syndrome"	"OMIM:616202"	"Cerebellofaciodental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11551"	"BRF1"	"OMIM:616202"	"cerebellar-facial-dental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-22 14:09:53"	""	""	"25561519, 27748960, 33645901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRF10Cerebell04"	"2023-11-30"
"GENCC_000106-HGNC_23752-OMIM_615023-HP_0000007-GENCC_100002"	"HGNC:23752"	"CERS3"	"MONDO:0014010"	"autosomal recessive congenital ichthyosis 9"	"OMIM:615023"	"Ichthyosis, congenital, autosomal recessive 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23752"	"CERS3"	"OMIM:615023"	"autosomal recessive congenital ichthyosis 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:04"	""	""	"23549421, 23754960, 2681008, 28875980, 30578701"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CERS30Ichthyos05"	"2023-11-30"
"GENCC_000106-HGNC_2032-OMIM_607626-HP_0000007-GENCC_100002"	"HGNC:2032"	"CLDN1"	"MONDO:0011874"	"neonatal ichthyosis-sclerosing cholangitis syndrome"	"OMIM:607626"	"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2032"	"CLDN1"	"OMIM:607626"	"neonatal ichthyosis-sclerosing cholangitis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 02:41:36"	""	""	"11889141, 15521008, 16619213, 28154377"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLDN10Ichthyos09"	"2023-11-30"
"GENCC_000106-HGNC_2185-OMIM_156500-HP_0000006-GENCC_100002"	"HGNC:2185"	"COL10A1"	"MONDO:0007983"	"Schmid metaphyseal chondrodysplasia"	"OMIM:156500"	"Metaphyseal chondrodysplasia, Schmid type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2185"	"COL10A1"	"OMIM:156500"	"Schmid metaphyseal chondrodysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-17 21:53:42"	""	""	"10811836, 116441956, 16088909, 17403716, 20872587, 2427218, 25542771, 31348255, 31856751, 33764685, 35250876, 36400164, 7842010, 7876225, 9067753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL10A10MetaphasealDys"	"2023-11-30"
"GENCC_000106-HGNC_2498-OMIM_604168-HP_0000007-GENCC_100002"	"HGNC:2498"	"CTDP1"	"MONDO:0011402"	"congenital cataracts-facial dysmorphism-neuropathy syndrome"	"OMIM:604168"	"Congenital cataracts, facial dysmorphism, and neuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2498"	"CTDP1"	"OMIM:604168"	"congenital cataracts-facial dysmorphism-neuropathy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 14:56:37"	""	""	"14517542, 20301787, 23408394, 24690360, 29174527"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTDP10CCFDN"	"2023-11-30"
"GENCC_000106-HGNC_3003-OMIM_616901-HP_0000007-GENCC_100002"	"HGNC:3003"	"DPH1"	"MONDO:0800438"	"developmental delay with short stature, dysmorphic facial features, and sparse hair 1"	"OMIM:616901"	"Developmental delay with short stature, dysmorphic facial features, and sparse hair"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3003"	"DPH1"	"OMIM:616901"	"craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-04-27 18:33:35"	""	""	"14744934, 24895408, 25558065, 26220823, 27457812, 29362492, 29410513"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPH10Developm"	"2023-11-30"
"GENCC_000106-HGNC_30578-OMIM_615028-HP_0000007-GENCC_100002"	"HGNC:30578"	"EXPH5"	"MONDO:0014014"	"epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"OMIM:615028"	"Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30578"	"EXPH5"	"OMIM:615028"	"epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-20 10:28:11"	""	""	"23176819, 24005056, 24443915, 26211931, 27730671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXPH50Epidermo07"	"2023-11-30"
"GENCC_000106-HGNC_24200-OMIM_615704-HP_0000006-GENCC_100002"	"HGNC:24200"	"FAM111B"	"MONDO:0014310"	"hereditary sclerosing poikiloderma with tendon and pulmonary involvement"	"OMIM:615704"	"Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24200"	"FAM111B"	"OMIM:615704"	"hereditary sclerosing poikiloderma with tendon and pulmonary involvement"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 16:16:59"	""	""	"24268661, 26471370"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM111B0Poikilod"	"2023-11-30"
"GENCC_000106-HGNC_22140-OMIM_259775-HP_0000007-GENCC_100002"	"HGNC:22140"	"FAM20C"	"MONDO:0009821"	"lethal osteosclerotic bone dysplasia"	"OMIM:259775"	"Raine syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22140"	"FAM20C"	"OMIM:259775"	"lethal osteosclerotic bone dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-19 08:15:07"	""	""	"17924334, 19250384, 20453638, 22615579, 22732358, 23325605, 24039075, 25019372, 25026495, 25928877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM20C0RaineSyn"	"2023-11-30"
"GENCC_000106-HGNC_26222-OMIM_616154-HP_0000007-GENCC_100002"	"HGNC:26222"	"FAR1"	"MONDO:0014510"	"fatty acyl-CoA reductase 1 deficiency"	"OMIM:616154"	"Peroxisomal fatty acyl-CoA reductase 1 disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26222"	"FAR1"	"OMIM:616154"	"fatty acyl-CoA reductase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"25439727, 28097321, 28454995, 33586168"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAR10Peroxiso"	"2023-11-30"
"GENCC_000106-HGNC_18625-OMIM_614557-HP_0000007-GENCC_100002"	"HGNC:18625"	"FKBP14"	"MONDO:0013800"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"OMIM:614557"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18625"	"FKBP14"	"OMIM:614557"	"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-21 21:24:53"	""	""	"22265013, 24677762"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FKBP140EDSKMH"	"2023-11-30"
"GENCC_000106-HGNC_3974-OMIM_229100-HP_0000007-GENCC_100002"	"HGNC:3974"	"FTCD"	"MONDO:0009240"	"formiminoglutamic aciduria"	"OMIM:229100"	"Glutamate formiminotransferase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3974"	"FTCD"	"OMIM:229100"	"formiminoglutamic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:50"	""	""	"12815595, 229100, 29178637, 29869163"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FTCD0FTCDDef02"	"2023-11-30"
"GENCC_000106-HGNC_4289-OMIM_307030-HP_0001417-GENCC_100002"	"HGNC:4289"	"GK"	"MONDO:0010613"	"inborn glycerol kinase deficiency"	"OMIM:307030"	"Glycerol kinase deficiency"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4289"	"GK"	"OMIM:307030"	"inborn glycerol kinase deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"11032329, 11479736, 2429928, 9302256"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GK0Glycerol"	"2023-11-30"
"GENCC_000106-HGNC_23026-OMIM_252605-HP_0000007-GENCC_100002"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"OMIM:252605"	"Mucolipidosis III gamma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23026"	"GNPTG"	"OMIM:252605"	"GNPTG-mucolipidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-16 14:39:16"	""	""	"118514, 120342, 15060128, 19370764, 20301784, 250780, 26935170, 280912, 29170090, 30882951"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNPTG0Mucolipidosis3"	"2023-11-30"
"GENCC_000106-HGNC_25676-OMIM_231070-HP_0000007-GENCC_100002"	"HGNC:25676"	"GORAB"	"MONDO:0009271"	"geroderma osteodysplastica"	"OMIM:231070"	"Geroderma osteodysplasticum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25676"	"GORAB"	"OMIM:231070"	"geroderma osteodysplastica"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-16 14:36:45"	""	""	"18997784, 19681135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GORAB0GerodermOsteo"	"2023-11-30"
"GENCC_000106-HGNC_26938-OMIM_616881-HP_0000007-GENCC_100002"	"HGNC:26938"	"HIKESHI"	"MONDO:0014813"	"hypomyelinating leukodystrophy 13"	"OMIM:616881"	"Leukodystrophy, hypomyelinating, 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26938"	"HIKESHI"	"OMIM:616881"	"hypomyelinating leukodystrophy 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-15 10:51:35"	""	""	"26545878, 28000699"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HIKESHI0Leukodys02"	"2023-11-30"
"GENCC_000106-HGNC_5042-OMIM_300986-HP_0001417-GENCC_100002"	"HGNC:5042"	"HNRNPH2"	"MONDO:0010512"	"intellectual disability, X-linked, syndromic, Bain type"	"OMIM:300986"	"Intellectual developmental disorder, X-linked syndromic, Bain type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:5042"	"HNRNPH2"	"OMIM:300986"	"intellectual disability, X-linked, syndromic, Bain type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:50:56"	""	""	"27545675, 30887513, 31236915, 31316545, 31670473, 31943778, 34907471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPH20MentalRe045"	"2023-11-30"
"GENCC_000106-HGNC_5044-OMIM_616580-HP_0000006-GENCC_100002"	"HGNC:5044"	"HNRNPK"	"MONDO:0014700"	"Au-Kline syndrome"	"OMIM:616580"	"Au-Kline syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5044"	"HNRNPK"	"OMIM:616580"	"neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-03 00:20:20"	""	""	"26173930, 26954065, 28374925, 29904177, 32588992, 34930662, 34958143, 35422839"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPK0Au-Kline"	"2023-11-30"
"GENCC_000106-HGNC_5948-OMIM_300888-HP_0001417-GENCC_100002"	"HGNC:5948"	"IGSF1"	"MONDO:0010475"	"X-linked central congenital hypothyroidism with late-onset testicular enlargement"	"OMIM:300888"	"Hypothyroidism, central, and testicular enlargement"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:5948"	"IGSF1"	"OMIM:300888"	"X-linked central congenital hypothyroidism with late-onset testicular enlargement"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 15:36:43"	""	""	"23143598, 26840047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGSF10Hypothyr"	"2023-11-30"
"GENCC_000106-HGNC_14361-OMIM_611174-HP_0000007-GENCC_100002"	"HGNC:14361"	"IRX5"	"MONDO:0012634"	"craniofacial dysplasia - osteopenia syndrome"	"OMIM:611174"	"Hamamy syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14361"	"IRX5"	"OMIM:611174"	"craniofacial dysplasia - osteopenia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"102846, 16239150, 22581230, 22992950, 24726282, 27453922, 28940097"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRX50Hamamy"	"2023-11-30"
"GENCC_000106-HGNC_6139-OMIM_614748-HP_0000007-GENCC_100002"	"HGNC:6139"	"ITGA3"	"MONDO:0013881"	"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"OMIM:614748"	"Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6139"	"ITGA3"	"OMIM:614748"	"pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-05 18:50:12"	""	""	"22512483, 25349199, 27717396, 9151677"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGA30Intersti"	"2023-11-30"
"GENCC_000106-HGNC_6142-OMIM_226730-HP_0000007-GENCC_100002"	"HGNC:6142"	"ITGA6"	"MONDO:0009183"	"junctional epidermolysis bullosa with pyloric atresia"	"OMIM:226730"	"Epidermolysis bullosa, junctional 5B, with pyloric atresia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6142"	"ITGA6"	"OMIM:226730"	"junctional epidermolysis bullosa with pyloric atresia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 07:17:03"	""	""	"27607025, 9158140, 9185503, 9804362"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGA60Epidermo02"	"2023-11-30"
"GENCC_000106-HGNC_6155-OMIM_116920-HP_0000007-GENCC_100002"	"HGNC:6155"	"ITGB2"	"MONDO:0007293"	"leukocyte adhesion deficiency 1"	"OMIM:116920"	"Leukocyte adhesion deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6155"	"ITGB2"	"OMIM:116920"	"leukocyte adhesion deficiency 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 12:55:19"	""	""	"22134107, 25703682, 3078709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGB20LeukocyteAdhes"	"2023-11-30"
"GENCC_000106-HGNC_24565-OMIM_610443-HP_0000006-GENCC_100002"	"HGNC:24565"	"KANSL1"	"MONDO:0012496"	"Koolen-de Vries syndrome"	"OMIM:610443"	"Koolen-De Vries syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24565"	"KANSL1"	"OMIM:610443"	"Koolen-de Vries syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-28 12:14:57"	""	""	"22544363, 22544367"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KANSL10KoolenDeVries"	"2023-11-30"
"GENCC_000106-HGNC_6283-OMIM_612292-HP_0000006-GENCC_100002"	"HGNC:6283"	"KCNK9"	"MONDO:0012856"	"Birk-Barel syndrome"	"OMIM:612292"	"Birk-Barel syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6283"	"KCNK9"	"OMIM:612292"	"Birk-Barel syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-23 23:10:39"	""	""	"18678320, 24342771, 27151206, 31980599, 35698242"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNK90Birk-Bar"	"2023-11-30"
"GENCC_000106-HGNC_29079-OMIM_616728-HP_0000006-GENCC_100002"	"HGNC:29079"	"KDM1A"	"MONDO:0014751"	"palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"	"OMIM:616728"	"Cleft palate, psychomotor retardation, and distinctive facial features"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29079"	"KDM1A"	"OMIM:616728"	"palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-09 10:20:20"	""	""	"24838796, 26656649, 27094131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDM1A0CleftPal03"	"2023-11-30"
"GENCC_000106-HGNC_6481-OMIM_615960-HP_0000007-GENCC_100002"	"HGNC:6481"	"LAMA1"	"MONDO:0014419"	"ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"	"OMIM:615960"	"Poretti-Boltshauser syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6481"	"LAMA1"	"OMIM:615960"	"ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 18:59:08"	""	""	"25105227, 26932191"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMA10Poretti-"	"2023-11-30"
"GENCC_000106-HGNC_24912-OMIM_615071-HP_0000007-GENCC_100002"	"HGNC:24912"	"LARP7"	"MONDO:0014031"	"microcephalic primordial dwarfism, Alazami type"	"OMIM:615071"	"Alazami syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24912"	"LARP7"	"OMIM:615071"	"microcephalic primordial dwarfism, Alazami type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 10:03:58"	""	""	"21937992, 22865833, 26374271, 26539891, 26607181"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LARP70AlazamiS"	"2023-11-30"
"GENCC_000106-HGNC_6553-OMIM_614962-HP_0000007-GENCC_100002"	"HGNC:6553"	"LEP"	"MONDO:0013991"	"obesity due to congenital leptin deficiency"	"OMIM:614962"	"Obesity, morbid, due to leptin deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6553"	"LEP"	"OMIM:614962"	"obesity due to congenital leptin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 16:20:00"	""	""	"12393845, 15472169, 20307995, 24304187, 26186301, 28007844, 29040067, 7984236, 9202122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LEP0Obesity,"	"2023-11-30"
"GENCC_000106-HGNC_6554-OMIM_614963-HP_0000007-GENCC_100002"	"HGNC:6554"	"LEPR"	"MONDO:0013992"	"obesity due to leptin receptor gene deficiency"	"OMIM:614963"	"Obesity, morbid, due to leptin receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6554"	"LEPR"	"OMIM:614963"	"obesity due to leptin receptor gene deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 18:01:49"	""	""	"23616257, 24319006, 25751111"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LEPR0Obesity,08"	"2023-11-30"
"GENCC_000106-HGNC_30922-OMIM_614340-HP_0000007-GENCC_100002"	"HGNC:30922"	"LINS1"	"MONDO:0013702"	"intellectual disability, autosomal recessive 27"	"OMIM:614340"	"Intellectual developmental disorder, autosomal recessive 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30922"	"LINS1"	"OMIM:614340"	"intellectual disability, autosomal recessive 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 19:55:33"	""	""	"21937992, 23773660, 25356970"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LINS10MentalRe029"	"2023-11-30"
"GENCC_000106-HGNC_6814-OMIM_615547-HP_0000006-GENCC_100002"	"HGNC:6814"	"MAGEL2"	"MONDO:0014243"	"Schaaf-Yang syndrome"	"OMIM:615547"	"Schaaf-Yang syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6814"	"MAGEL2"	"OMIM:615547"	"Schaaf-Yang syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 21:54:30"	""	""	"17728320, 19066619, 192088, 23867773, 23886982, 23889992, 24076603, 24661356, 25473036, 27195816, 29588991, 29599419, 30302899, 31685878, 34645491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAGEL20SchaafYang"	"2023-11-30"
"GENCC_000106-HGNC_13356-OMIM_252650-HP_0000007-GENCC_100002"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"mucolipidosis type IV"	"OMIM:252650"	"Mucolipidosis IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13356"	"MCOLN1"	"OMIM:252650"	"mucolipidosis type IV"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:10:18"	""	""	"11030752, 11317355, 12182165, 17924347, 21763169, 9448310"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCOLN10Mucolipidosis4"	"2023-11-30"
"GENCC_000106-HGNC_1530-OMIM_615673-HP_0000007-GENCC_100002"	"HGNC:1530"	"MICU1"	"MONDO:0014300"	"proximal myopathy with extrapyramidal signs"	"OMIM:615673"	"Myopathy with extrapyramidal signs"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1530"	"MICU1"	"OMIM:615673"	"proximal myopathy with extrapyramidal signs"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:50"	""	""	"24336167, 27159402"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MICU10Myopathy04"	"2023-11-30"
"GENCC_000106-HGNC_3942-OMIM_616638-HP_0000006-GENCC_100002"	"HGNC:3942"	"MTOR"	"MONDO:0014716"	"macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"	"OMIM:616638"	"Smith-Kingsmore syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3942"	"MTOR"	"OMIM:616638"	"macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-01 19:20:28"	""	""	"25851998, 26542245, 27159400, 27753196, 28892148, 33325571, 34170046, 34197453"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTOR0SKS"	"2023-11-30"
"GENCC_000106-HGNC_13806-OMIM_610370-HP_0000007-GENCC_100002"	"HGNC:13806"	"NEUROG3"	"MONDO:0012479"	"congenital malabsorptive diarrhea 4"	"OMIM:610370"	"Diarrhea 4, malabsorptive, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13806"	"NEUROG3"	"OMIM:610370"	"congenital malabsorptive diarrhea 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-28 21:09:14"	""	""	"10677506, 2137817, 21490072, 27533310, 28940958"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEUROG30Diarrhea05"	"2023-11-30"
"GENCC_000106-HGNC_7975-OMIM_615722-HP_0000006-GENCC_100002"	"HGNC:7975"	"NR2F1"	"MONDO:0014320"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"OMIM:615722"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7975"	"NR2F1"	"OMIM:615722"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 11:40:10"	""	""	"14738874, 24462372, 26986877, 28777376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR2F10Bosch"	"2023-11-30"
"GENCC_000106-HGNC_8021-OMIM_211800-HP_0000007-GENCC_100002"	"HGNC:8021"	"NT5E"	"MONDO:0008895"	"hereditary arterial and articular multiple calcification syndrome"	"OMIM:211800"	"Calcification of joints and arteries"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8021"	"NT5E"	"OMIM:211800"	"hereditary arterial and articular multiple calcification syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-17 17:08:27"	""	""	"21288095, 26010187, 26178434"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NT5E0Calcific"	"2023-11-30"
"GENCC_000106-HGNC_8149-OMIM_260005-HP_0000007-GENCC_100002"	"HGNC:8149"	"OPLAH"	"MONDO:0009825"	"5-oxoprolinase deficiency"	"OMIM:260005"	"5-oxoprolinase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8149"	"OPLAH"	"OMIM:260005"	"5-oxoprolinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"21651516, 27477828, 6790862, 8127060"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPLAH05Oxopro"	"2023-11-30"
"GENCC_000106-HGNC_25118-OMIM_617099-HP_0000007-GENCC_100002"	"HGNC:25118"	"OTULIN"	"MONDO:0014912"	"autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive"	"OMIM:617099"	"Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25118"	"OTULIN"	"OMIM:617099"	"infantile-onset periodic fever-panniculitis-dermatosis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:11:17"	""	""	"27523608, 27559085, 30796585"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTULIN0Autoinfl"	"2023-11-30"
"GENCC_000106-HGNC_8527-OMIM_245050-HP_0000007-GENCC_100002"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"OMIM:245050"	"Succinyl CoA:3-oxoacid CoA transferase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8527"	"OXCT1"	"OMIM:245050"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"15669687, 21296660, 28695376, 8751852"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OXCT10SuccCoA3"	"2023-11-30"
"GENCC_000106-HGNC_8636-OMIM_266150-HP_0000007-GENCC_100002"	"HGNC:8636"	"PC"	"MONDO:0009949"	"pyruvate carboxylase deficiency disease"	"OMIM:266150"	"Pyruvate carboxylase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8636"	"PC"	"OMIM:266150"	"pyruvate carboxylase deficiency disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-26 13:07:15"	""	""	"12112657, 19306334, 23430542"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PC0PyruvateCarbox"	"2023-11-30"
"GENCC_000106-HGNC_8743-OMIM_600955-HP_0000007-GENCC_100002"	"HGNC:8743"	"PCSK1"	"MONDO:0010961"	"obesity due to prohormone convertase I deficiency"	"OMIM:600955"	"Endocrinopathy due to proprotein convertase 1/3 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8743"	"PCSK1"	"OMIM:600955"	"obesity due to prohormone convertase I deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:54:35"	""	""	"23562752, 23800642, 24280991, 27391121"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCSK10ObesityW"	"2023-11-30"
"GENCC_000106-HGNC_8896-OMIM_300653-HP_0001417-GENCC_100002"	"HGNC:8896"	"PGK1"	"MONDO:0010392"	"glycogen storage disease due to phosphoglycerate kinase 1 deficiency"	"OMIM:300653"	"Phosphoglycerate kinase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8896"	"PGK1"	"OMIM:300653"	"glycogen storage disease due to phosphoglycerate kinase 1 deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:51"	""	""	"16740138, 21223252, 22348148, 30111548, 7577653, 8043870, 8122886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PGK10PGKdef"	"2023-11-30"
"GENCC_000106-HGNC_9023-OMIM_604536-HP_0000007-GENCC_100002"	"HGNC:9023"	"PKP1"	"MONDO:0011472"	"epidermolysis bullosa simplex due to plakophilin deficiency"	"OMIM:604536"	"Ectodermal dysplasia/skin fragility syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9023"	"PKP1"	"OMIM:604536"	"epidermolysis bullosa simplex due to plakophilin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"15140237, 19016709, 25565931, 9326952"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKP10Ectoderm03"	"2023-11-30"
"GENCC_000106-HGNC_29515-OMIM_616763-HP_0000007-GENCC_100002"	"HGNC:29515"	"PLEKHG2"	"MONDO:0014766"	"leukodystrophy and acquired microcephaly with or without dystonia;"	"OMIM:616763"	"Leukodystrophy and acquired microcephaly with or without dystonia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29515"	"PLEKHG2"	"OMIM:616763"	"leukodystrophy and acquired microcephaly with or without dystonia;"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"25363768, 26539891, 26573021"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLEKHG20Leukodys"	"2023-11-30"
"GENCC_000106-HGNC_9280-OMIM_176200-HP_0000006-GENCC_100002"	"HGNC:9280"	"PPOX"	"MONDO:0008297"	"variegate porphyria"	"OMIM:176200"	"Variegate porphyria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9280"	"PPOX"	"OMIM:176200"	"variegate porphyria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:36:28"	""	""	"10486317"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPOX0Porphyri02"	"2023-11-30"
"GENCC_000106-HGNC_9577-OMIM_614023-HP_0000007-GENCC_100002"	"HGNC:9577"	"PSPH"	"MONDO:0013531"	"PSPH deficiency"	"OMIM:614023"	"Phosphoserine phosphatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9577"	"PSPH"	"OMIM:614023"	"PSPH deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-31 08:13:56"	""	""	"14673469, 25080166, 25152457, 26589312, 26633543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSPH0PhosphoserPhos"	"2023-11-30"
"GENCC_000106-HGNC_17042-OMIM_615583-HP_0000006-GENCC_100002"	"HGNC:17042"	"PUF60"	"MONDO:0014263"	"8q24.3 microdeletion syndrome"	"OMIM:615583"	"Verheij syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17042"	"PUF60"	"OMIM:615583"	"8q24.3 microdeletion syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:39:55"	""	""	"27804958, 28327570"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PUF600VerheijS"	"2023-11-30"
"GENCC_000106-HGNC_13429-OMIM_300978-HP_0001417-GENCC_100002"	"HGNC:13429"	"RLIM"	"MONDO:0010506"	"intellectual disability, X-linked 61"	"OMIM:300978"	"Tonne-Kalscheuer syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:13429"	"RLIM"	"OMIM:300978"	"intellectual disability, X-linked 61"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-10 07:55:37"	""	""	"25644381, 25735484, 29728705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RLIM0MentalRe022"	"2023-11-30"
"GENCC_000106-HGNC_21698-OMIM_212840-HP_0000007-GENCC_100002"	"HGNC:21698"	"RNF216"	"MONDO:0008935"	"cerebellar ataxia-hypogonadism syndrome"	"OMIM:212840"	"Cerebellar ataxia and hypogonadotropic hypogonadism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21698"	"RNF216"	"OMIM:212840"	"cerebellar ataxia-hypogonadism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-11 01:51:50"	""	""	"23656588, 24108619, 25841028"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF2160Cerebell02"	"2023-11-30"
"GENCC_000106-HGNC_21637-OMIM_612313-HP_0000006-GENCC_100002"	"HGNC:21637"	"SATB2"	"MONDO:0012864"	"chromosome 2q32-q33 deletion syndrome"	"OMIM:612313"	"Glass syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21637"	"SATB2"	"OMIM:612313"	"chromosome 2q32-q33 deletion syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:13:20"	""	""	"17377962, 23925499, 24301056, 24896178, 25885067, 31021519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SATB20Glass"	"2023-11-30"
"GENCC_000106-HGNC_14372-OMIM_616719-HP_0000007-GENCC_100002"	"HGNC:14372"	"SCYL1"	"MONDO:0014744"	"acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"	"OMIM:616719"	"Spinocerebellar ataxia, autosomal recessive 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14372"	"SCYL1"	"OMIM:616719"	"acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-28 19:37:18"	""	""	"23175812, 25984793, 26581903"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCYL10Spinocer05"	"2023-11-30"
"GENCC_000106-HGNC_10799-OMIM_178500-HP_0000006-GENCC_100002"	"HGNC:10799"	"SFTPA2"	"MONDO:0800029"	"interstitial lung disease 2"	"OMIM:178500"	"{Pulmonary fibrosis, idiopathic, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10799"	"SFTPA2"	"OMIM:178500"	"idiopathic pulmonary fibrosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:37"	""	""	"19100526, 25553246, 26568241"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SFTPA20Pulmonar03"	"2023-11-30"
"GENCC_000106-HGNC_10856-OMIM_222900-HP_0000007-GENCC_100002"	"HGNC:10856"	"SI"	"MONDO:0009114"	"congenital sucrase-isomaltase deficiency"	"OMIM:222900"	"Sucrase-isomaltase deficiency, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10856"	"SI"	"OMIM:222900"	"congenital sucrase-isomaltase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"16329100, 23103650, 25452324"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SI0Sucrase-"	"2023-11-30"
"GENCC_000106-HGNC_19353-OMIM_613406-HP_0000006-GENCC_100002"	"HGNC:19353"	"SIN3A"	"MONDO:0013256"	"chromosome 15q24 deletion syndrome"	"OMIM:613406"	"Witteveen-Kolk syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19353"	"SIN3A"	"OMIM:613406"	"chromosome 15q24 deletion syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 14:56:19"	""	""	"22216833, 26034137, 27399968, 27513193, 27824329"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIN3A0Wittevee"	"2023-11-30"
"GENCC_000106-HGNC_10892-OMIM_212550-HP_0000007-GENCC_100002"	"HGNC:10892"	"SIX6"	"MONDO:0008927"	"colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"	"OMIM:212550"	"Optic disc anomalies with retinal and/or macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10892"	"SIX6"	"OMIM:212550"	"colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 10:46:30"	""	""	"21228153, 23167593, 24702266, 28505344, 29405792, 31681265, 35693420"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIX60OpticDisc"	"2023-11-30"
"GENCC_000106-HGNC_10942-OMIM_616657-HP_0000007-GENCC_100002"	"HGNC:10942"	"SLC1A4"	"MONDO:0014725"	"spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"	"OMIM:616657"	"Spastic tetraplegia, thin corpus callosum, and progressive microcephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10942"	"SLC1A4"	"OMIM:616657"	"spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-23 14:56:39"	""	""	"25256405, 25930971, 26041762, 27193218, 27848944, 30125339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC1A40SpasticT"	"2023-11-30"
"GENCC_000106-HGNC_10989-OMIM_610773-HP_0000007-GENCC_100002"	"HGNC:10989"	"SLC25A3"	"MONDO:0012557"	"cardiomyopathy-hypotonia-lactic acidosis syndrome"	"OMIM:610773"	"Mitochondrial phosphate carrier deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10989"	"SLC25A3"	"OMIM:610773"	"cardiomyopathy-hypotonia-lactic acidosis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"17273968, 21763135, 25681081"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A30MitoPhos"	"2023-11-30"
"GENCC_000106-HGNC_11036-OMIM_606824-HP_0000007-GENCC_100002"	"HGNC:11036"	"SLC5A1"	"MONDO:0011731"	"glucose-galactose malabsorption"	"OMIM:606824"	"Glucose/galactose malabsorption"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11036"	"SLC5A1"	"OMIM:606824"	"glucose-galactose malabsorption"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-01 14:06:24"	""	""	"10036327, 12139397, 14673631, 20486940, 22124465, 8563765"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC5A10GluGalMalabs"	"2023-11-30"
"GENCC_000106-HGNC_11102-OMIM_242900-HP_0000007-GENCC_100002"	"HGNC:11102"	"SMARCAL1"	"MONDO:0009458"	"Schimke immuno-osseous dysplasia"	"OMIM:242900"	"Schimke immunoosseous dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11102"	"SMARCAL1"	"OMIM:242900"	"Schimke immuno-osseous dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-24 17:41:30"	""	""	"11799392, 120490, 120668, 121412, 17089404, 20301550, 250088, 251190, 251484"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCAL10SchimkeImmun"	"2023-11-30"
"GENCC_000106-HGNC_11431-OMIM_603233-HP_0000006-GENCC_100002"	"HGNC:11431"	"STX16"	"MONDO:0011301"	"pseudohypoparathyroidism type 1B"	"OMIM:603233"	"Pseudohypoparathyroidism Ib"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11431"	"STX16"	"OMIM:603233"	"pseudohypoparathyroidism type 1B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-06 11:27:16"	""	""	"15537666, 17651445, 21062889, 23087324, 24438374, 25843330"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STX160Pseudohy"	"2023-11-30"
"GENCC_000106-HGNC_16001-OMIM_231690-HP_0000007-GENCC_100002"	"HGNC:16001"	"SUGCT"	"MONDO:0009283"	"glutaric acidemia type 3"	"OMIM:231690"	"Glutaric aciduria III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16001"	"SUGCT"	"OMIM:231690"	"glutaric acidemia type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"18926513, 23893049"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUGCT0Glutaric"	"2023-11-30"
"GENCC_000106-HGNC_20376-OMIM_272200-HP_0000007-GENCC_100002"	"HGNC:20376"	"SUMF1"	"MONDO:0010088"	"mucosulfatidosis"	"OMIM:272200"	"Multiple sulfatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20376"	"SUMF1"	"OMIM:272200"	"mucosulfatidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-28 13:35:25"	""	""	"12757705, 12757706, 16125993, 17360554, 21224894, 23321616, 25516103, 25885655"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUMF10MultSulfDef"	"2023-11-30"
"GENCC_000106-HGNC_28261-OMIM_616900-HP_0000007-GENCC_100002"	"HGNC:28261"	"TBCK"	"MONDO:0014823"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	"OMIM:616900"	"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28261"	"TBCK"	"OMIM:616900"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-11-01 00:30:01"	""	""	"27040692, 30103036"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBCK0Hypotoni03"	"2023-11-30"
"GENCC_000106-HGNC_11594-OMIM_260660-HP_0000007-GENCC_100002"	"HGNC:11594"	"TBX15"	"MONDO:0009845"	"pelviscapular dysplasia"	"OMIM:260660"	"Cousin syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11594"	"TBX15"	"OMIM:260660"	"pelviscapular dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"19068278, 24039145, 7103674"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX150CousinSynd"	"2023-11-30"
"GENCC_000106-HGNC_17768-OMIM_616949-HP_0000007-GENCC_100002"	"HGNC:17768"	"TDP2"	"MONDO:0014846"	"spinocerebellar ataxia, autosomal recessive 23"	"OMIM:616949"	"Spinocerebellar ataxia, autosomal recessive 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17768"	"TDP2"	"OMIM:616949"	"spinocerebellar ataxia, autosomal recessive 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-07 09:10:38"	""	""	"24658003, 26284228, 28397838"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TDP20Spinocer"	"2023-11-30"
"GENCC_000106-HGNC_19073-OMIM_300957-HP_0001417-GENCC_100002"	"HGNC:19073"	"THOC2"	"MONDO:0010496"	"X-linked intellectual disability-short stature-overweight syndrome"	"OMIM:300957"	"Intellectual developmental disorder, X-linked syndromic, Kumar type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:19073"	"THOC2"	"OMIM:300957"	"X-linked intellectual disability-short stature-overweight syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:30"	""	""	"23749989, 26166480, 29851191"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THOC20MentalRe06"	"2023-11-30"
"GENCC_000106-HGNC_28369-OMIM_613680-HP_0000007-GENCC_100002"	"HGNC:28369"	"THOC6"	"MONDO:0013362"	"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	"OMIM:613680"	"Beaulieu-Boycott-Innes syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28369"	"THOC6"	"OMIM:613680"	"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-09 10:11:29"	""	""	"23621916, 26739162, 27102954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THOC60Beaulieu"	"2023-11-30"
"GENCC_000106-HGNC_11822-OMIM_136900-HP_0000006-GENCC_100002"	"HGNC:11822"	"TIMP3"	"MONDO:0007640"	"Sorsby fundus dystrophy"	"OMIM:136900"	"Sorsby fundus dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11822"	"TIMP3"	"OMIM:136900"	"Sorsby fundus dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:40"	""	""	"10854443, 15322543, 23023527, 26493035, 27601084, 28559085, 28847738, 9642234"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIMP30SFD"	"2023-11-30"
"GENCC_000106-HGNC_9490-OMIM_226200-HP_0000007-GENCC_100002"	"HGNC:9490"	"TMPRSS15"	"MONDO:0009173"	"congenital enteropathy due to enteropeptidase deficiency"	"OMIM:226200"	"Enterokinase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9490"	"TMPRSS15"	"OMIM:226200"	"congenital enteropathy due to enteropeptidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"11719902, 1197523, 33061943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMPRSS150Enteroki"	"2023-11-30"
"GENCC_000106-HGNC_11896-OMIM_616744-HP_0000006-GENCC_100002"	"HGNC:11896"	"TNFAIP3"	"MONDO:0800045"	"autoinflammatory syndrome, familial, Behcet-like 1"	"OMIM:616744"	"Autoinflammatory syndrome, familial, Behcet-like 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11896"	"TNFAIP3"	"OMIM:616744"	"hereditary pediatric Behçet-like disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-25 17:24:39"	""	""	"26642243"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFAIP30Autoinfl02"	"2023-11-30"
"GENCC_000106-HGNC_19750-OMIM_243150-HP_0000007-GENCC_100002"	"HGNC:19750"	"TTC7A"	"MONDO:0800030"	"gastrointestinal defects and immunodeficiency syndrome 1"	"OMIM:243150"	"Gastrointestinal defects and immunodeficiency syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19750"	"TTC7A"	"OMIM:243150"	"multiple intestinal atresia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-21 15:21:19"	""	""	"23830146, 24292712, 25174867"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC7A0GDIS"	"2023-11-30"
"GENCC_000106-HGNC_12417-OMIM_615412-HP_0000006-GENCC_100002"	"HGNC:12417"	"TUBG1"	"MONDO:0014171"	"complex cortical dysplasia with other brain malformations 4"	"OMIM:615412"	"Cortical dysplasia, complex, with other brain malformations 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12417"	"TUBG1"	"OMIM:615412"	"complex cortical dysplasia with other brain malformations 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:42"	""	""	"15893303, 23603762"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBG10Cortical02"	"2023-11-30"
"GENCC_000106-HGNC_16691-OMIM_616335-HP_0000007-GENCC_100002"	"HGNC:16691"	"TUBGCP4"	"MONDO:0014592"	"microcephaly and chorioretinopathy 3"	"OMIM:616335"	"Microcephaly and chorioretinopathy, autosomal recessive, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16691"	"TUBGCP4"	"OMIM:616335"	"microcephaly and chorioretinopathy 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"25817018"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBGCP40Microcep07"	"2023-11-30"
"GENCC_000106-HGNC_25009-OMIM_616435-HP_0000007-GENCC_100002"	"HGNC:25009"	"UBE2T"	"MONDO:0014638"	"Fanconi anemia complementation group T"	"OMIM:616435"	"Fanconi anemia, complementation group T"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25009"	"UBE2T"	"OMIM:616435"	"Fanconi anemia complementation group T"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"26046368, 26085575, 26119737"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBE2T0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_13478-OMIM_244450-HP_0000007-GENCC_100002"	"HGNC:13478"	"UBE3B"	"MONDO:0009485"	"oculocerebrofacial syndrome, Kaufman type"	"OMIM:244450"	"Kaufman oculocerebrofacial syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13478"	"UBE3B"	"OMIM:244450"	"oculocerebrofacial syndrome, Kaufman type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"23200864, 23687348, 24615390, 251204, 251340, 251364, 251482"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBE3B0Kaufman"	"2023-11-30"
"GENCC_000106-HGNC_12592-OMIM_263700-HP_0000007-GENCC_100002"	"HGNC:12592"	"UROS"	"MONDO:0009902"	"cutaneous porphyria"	"OMIM:263700"	"Porphyria, congenital erythropoietic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12592"	"UROS"	"OMIM:263700"	"cutaneous porphyria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:16:45"	""	""	"12060141, 1733834, 22816431, 7860775"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UROS0Porphyri03"	"2023-11-30"
"GENCC_000106-HGNC_12616-OMIM_617397-HP_0000007-GENCC_100002"	"HGNC:12616"	"USP18"	"MONDO:0018828"	"pseudo-TORCH syndrome 2"	"OMIM:617397"	"Pseudo-TORCH syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12616"	"USP18"	"OMIM:617397"	"pseudo-TORCH syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"12208842, 12600939, 25896511, 26240016, 27325888"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USP180PTORCH2"	"2023-11-30"
"GENCC_000106-HGNC_17327-OMIM_616708-HP_0000006-GENCC_100002"	"HGNC:17327"	"WAC"	"MONDO:0014741"	"DeSanto-Shinawi syndrome due to WAC point mutation"	"OMIM:616708"	"Desanto-Shinawi syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17327"	"WAC"	"OMIM:616708"	"DeSanto-Shinawi syndrome due to WAC point mutation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:03:36"	""	""	"26264232, 26757981"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WAC0Desanto-"	"2023-11-30"
"GENCC_000106-HGNC_12856-OMIM_617557-HP_0000006-GENCC_100002"	"HGNC:12856"	"YY1"	"MONDO:0044738"	"Gabriele de Vries syndrome"	"OMIM:617557"	"Gabriele-de Vries syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12856"	"YY1"	"OMIM:617557"	"Gabriele de Vries syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-04 01:35:48"	""	""	"10490658, 17218270, 21076407, 28575647"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YY10GADEVS"	"2023-11-30"
"GENCC_000106-HGNC_13503-OMIM_259050-HP_0000006-GENCC_100002"	"HGNC:13503"	"ZBTB20"	"MONDO:0009798"	"Primrose syndrome"	"OMIM:259050"	"Primrose syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13503"	"ZBTB20"	"OMIM:259050"	"Primrose syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:06:52"	""	""	"25017102, 27061120, 28327206, 28462983, 30637921, 32071410, 32266967"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZBTB200Primrose"	"2023-11-30"
"GENCC_000106-HGNC_17258-OMIM_618276-HP_0000007-GENCC_100002"	"HGNC:17258"	"AGTPBP1"	"MONDO:0032650"	"neurodegeneration, childhood-onset, with cerebellar atrophy"	"OMIM:618276"	"Neurodegeneration, childhood-onset, with cerebellar atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17258"	"AGTPBP1"	"OMIM:618276"	"neurodegeneration, childhood-onset, with cerebellar atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-30 11:59:38"	""	""	"11884758, 28600779, 30420557"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGTPBP10AGTPBP1rel"	"2023-11-30"
"GENCC_000106-HGNC_25189-OMIM_618504-HP_0000007-GENCC_100002"	"HGNC:25189"	"ALKBH8"	"MONDO:0032789"	"intellectual developmental disorder, autosomal recessive 71"	"OMIM:618504"	"Intellectual developmental disorder, autosomal recessive 71"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25189"	"ALKBH8"	"OMIM:618504"	"intellectual developmental disorder, autosomal recessive 71"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-17 16:10:36"	""	""	"29391579, 31079898"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALKBH80ALKBH8rel"	"2023-11-30"
"GENCC_000106-HGNC_26837-OMIM_300373-HP_0001417-GENCC_100002"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"OMIM:300373"	"Osteopathia striata with cranial sclerosis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:26837"	"AMER1"	"OMIM:300373"	"osteopathia striata with cranial sclerosis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-10 17:11:00"	""	""	"19079258, 20209645, 21571217"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMER10Hyperostosis"	"2023-11-30"
"GENCC_000106-HGNC_19988-OMIM_618625-HP_0000007-GENCC_100002"	"HGNC:19988"	"ANAPC1"	"MONDO:0016368"	"Rothmund-Thomson syndrome type 1"	"OMIM:618625"	"Rothmund-Thomson syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19988"	"ANAPC1"	"OMIM:618625"	"Rothmund-Thomson syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:57"	""	""	"24807792, 31303264"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANAPC10ANAPC1rel"	"2023-11-30"
"GENCC_000106-HGNC_649-OMIM_617164-HP_0000006-GENCC_100002"	"HGNC:649"	"ARCN1"	"MONDO:0014948"	"short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay"	"OMIM:617164"	"Short stature-micrognathia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:649"	"ARCN1"	"OMIM:617164"	"short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 20:03:52"	""	""	"27476655"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARCN10ARCN1rel"	"2023-11-30"
"GENCC_000106-HGNC_23805-OMIM_617190-HP_0000006-GENCC_100002"	"HGNC:23805"	"ASXL2"	"MONDO:0014963"	"Shashi-Pena syndrome"	"OMIM:617190"	"Shashi-Pena syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23805"	"ASXL2"	"OMIM:617190"	"Shashi-Pena syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 14:53:36"	""	""	"27693232"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASXL20ASXL2rel"	"2023-11-30"
"GENCC_000106-HGNC_28636-OMIM_614175-HP_0000007-GENCC_100002"	"HGNC:28636"	"B9D2"	"MONDO:0013609"	"Meckel syndrome, type 10"	"OMIM:614175"	"Joubert syndrome 34"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28636"	"B9D2"	"OMIM:614175"	"Meckel syndrome, type 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 14:06:00"	""	""	"21763481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B9D20Joubert"	"2023-11-30"
"GENCC_000106-HGNC_3581-OMIM_617755-HP_0000006-GENCC_100002"	"HGNC:3581"	"BPTF"	"MONDO:0060596"	"neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"	"OMIM:617755"	"Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3581"	"BPTF"	"OMIM:617755"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-30 10:22:54"	""	""	"27513193, 28942966"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BPTF0BPTFrel"	"2023-11-30"
"GENCC_000106-HGNC_14255-OMIM_617333-HP_0000006-GENCC_100002"	"HGNC:14255"	"BRPF1"	"MONDO:0015022"	"intellectual developmental disorder with dysmorphic facies and ptosis"	"OMIM:617333"	"Intellectual developmental disorder with dysmorphic facies and ptosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14255"	"BRPF1"	"OMIM:617333"	"intellectual developmental disorder with dysmorphic facies and ptosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:14:20"	""	""	"27939639, 27939640, 37190896"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRPF10BRPF1rel"	"2023-11-30"
"GENCC_000106-HGNC_1733-OMIM_617360-HP_0000006-GENCC_100002"	"HGNC:1733"	"CDK13"	"MONDO:0044302"	"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	"OMIM:617360"	"Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1733"	"CDK13"	"OMIM:617360"	"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-26 15:12:26"	""	""	"27479907, 28554332, 29021403, 29393965, 31238879, 35063350"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDK130CDK13rel"	"2023-11-30"
"GENCC_000106-HGNC_1161-OMIM_236500-HP_0000007-GENCC_100002"	"HGNC:1161"	"CEP55"	"MONDO:0009359"	"multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"	"OMIM:236500"	"Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1161"	"CEP55"	"OMIM:236500"	"multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 13:28:53"	""	""	"249088, 251382, 28264986, 282750, 28295209, 30622327, 32100459"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP550Joubert"	"2023-11-30"
"GENCC_000106-HGNC_1918-OMIM_618205-HP_0000006-GENCC_100002"	"HGNC:1918"	"CHD3"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"OMIM:618205"	"Snijders Blok-Campeau syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1918"	"CHD3"	"OMIM:618205"	"Snijders Blok-Campeau syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-12 20:53:22"	""	""	"22495309, 27824329, 28191890, 29463886, 30397230, 32483341"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD30CHD3rel"	"2023-11-30"
"GENCC_000106-HGNC_2033-OMIM_617671-HP_0000007-GENCC_100002"	"HGNC:2033"	"CLDN10"	"MONDO:0060564"	"HELIX syndrome"	"OMIM:617671"	"HELIX syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2033"	"CLDN10"	"OMIM:617671"	"HELIX syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-26 13:25:56"	""	""	"28674042, 28686597, 29129401"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLDN100CLDN10rel"	"2023-11-30"
"GENCC_000106-HGNC_19701-OMIM_301008-HP_0001417-GENCC_100002"	"HGNC:19701"	"CNKSR2"	"MONDO:0030909"	"intellectual disability, X-linked, syndromic, Houge type"	"OMIM:301008"	"Intellectual developmental disorder, X-linked syndromic, Houge type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:19701"	"CNKSR2"	"OMIM:301008"	"intellectual disability, X-linked, syndromic, Houge type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-05 09:48:51"	""	""	"22511892, 25223753, 25754917, 28098945, 31414730, 31487502, 32245427"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNKSR20CNKSR2rel"	"2023-11-30"
"GENCC_000106-HGNC_25716-OMIM_618387-HP_0000007-GENCC_100002"	"HGNC:25716"	"COA7"	"MONDO:0020770"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"	"OMIM:618387"	"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25716"	"COA7"	"OMIM:618387"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-28 14:22:19"	""	""	"27683825, 29718187, 37750949"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COA70COA7rel"	"2023-11-30"
"GENCC_000106-HGNC_6546-OMIM_617395-HP_0000007-GENCC_100002"	"HGNC:6546"	"COG2"	"MONDO:0054559"	"congenital disorder of glycosylation, type IIq"	"OMIM:617395"	"?Congenital disorder of glycosylation, type IIq"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6546"	"COG2"	"OMIM:617395"	"congenital disorder of glycosylation, type IIq"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"24784932, 29878199"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COG20COG2rel"	"2023-11-30"
"GENCC_000106-HGNC_23228-OMIM_617319-HP_0000007-GENCC_100002"	"HGNC:23228"	"CPAMD8"	"MONDO:0015017"	"anterior segment dysgenesis 8"	"OMIM:617319"	"Anterior segment dysgenesis 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23228"	"CPAMD8"	"OMIM:617319"	"anterior segment dysgenesis 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-08 09:13:58"	""	""	"443236, 27839872, 29556725"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPAMD80CPAMD8rel"	"2023-11-30"
"GENCC_000106-HGNC_2324-OMIM_618827-HP_0000006-GENCC_100002"	"HGNC:2324"	"CPSF1"	"MONDO:0032941"	"myopia 27"	"OMIM:618827"	"Myopia 27"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2324"	"CPSF1"	"OMIM:618827"	"myopia 27"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:39:32"	""	""	"30689892"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPSF10CPSF1rel"	"2023-11-30"
"GENCC_000106-HGNC_28005-OMIM_618142-HP_0000007-GENCC_100002"	"HGNC:28005"	"CTU2"	"MONDO:0020647"	"microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome"	"OMIM:618142"	"Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28005"	"CTU2"	"OMIM:618142"	"microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"25081361, 26633546, 27480277, 30143558, 31301155, 4419518"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTU20CTU2rel"	"2023-11-30"
"GENCC_000106-HGNC_2557-OMIM_618330-HP_0000006-GENCC_100002"	"HGNC:2557"	"CUX1"	"MONDO:0032680"	"global developmental delay with or without impaired intellectual development"	"OMIM:618330"	"Global developmental delay with or without impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2557"	"CUX1"	"OMIM:618330"	"global developmental delay with or without impaired intellectual development"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 05:47:06"	""	""	"27667684, 29216221, 30014507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CUX10CUX1rel"	"2023-11-30"
"GENCC_000106-HGNC_19347-OMIM_618141-HP_0000006-GENCC_100002"	"HGNC:19347"	"CUX2"	"MONDO:0029138"	"developmental and epileptic encephalopathy, 67"	"OMIM:618141"	"Developmental and epileptic encephalopathy 67"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19347"	"CUX2"	"OMIM:618141"	"developmental and epileptic encephalopathy, 67"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-24 18:35:23"	""	""	"23020937, 28628100, 29630738"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CUX20CUX2rel"	"2023-11-30"
"GENCC_000106-HGNC_2867-OMIM_263750-HP_0000007-GENCC_100002"	"HGNC:2867"	"DHODH"	"MONDO:0009903"	"postaxial acrofacial dysostosis"	"OMIM:263750"	"Miller syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2867"	"DHODH"	"OMIM:263750"	"postaxial acrofacial dysostosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 15:16:32"	""	""	"19190124, 19915526, 21346561, 21430780, 21851494, 22692683, 22967083, 27219052, 27370710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHODH0MillerSyn"	"2023-11-30"
"GENCC_000106-HGNC_16716-OMIM_617804-HP_0000006-GENCC_100002"	"HGNC:16716"	"DHX30"	"MONDO:0060622"	"neurodevelopmental disorder with severe motor impairment and absent language"	"OMIM:617804"	"Neurodevelopmental disorder with variable motor and speech impairment"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16716"	"DHX30"	"OMIM:617804"	"neurodevelopmental disorder with severe motor impairment and absent language"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:12:32"	""	""	"29100085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHX300DHX30rel"	"2023-11-30"
"GENCC_000106-HGNC_27030-OMIM_617052-HP_0000007-GENCC_100002"	"HGNC:27030"	"DNAJC21"	"MONDO:0014887"	"bone marrow failure syndrome 3"	"OMIM:617052"	"Bone marrow failure syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27030"	"DNAJC21"	"OMIM:617052"	"bone marrow failure syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-19 16:51:16"	""	""	"27346687, 28062395"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJC210SDS"	"2023-11-30"
"GENCC_000106-HGNC_2989-OMIM_618292-HP_0000007-GENCC_100002"	"HGNC:2989"	"DOCK3"	"MONDO:0032661"	"neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia"	"OMIM:618292"	"Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2989"	"DOCK3"	"OMIM:618292"	"neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-23 12:08:13"	""	""	"28195318, 29130632"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DOCK30DOCK3rel"	"2023-11-30"
"GENCC_000106-HGNC_18683-OMIM_268305-HP_0000007-GENCC_100002"	"HGNC:18683"	"EIF4A3"	"MONDO:0009998"	"Richieri Costa-Pereira syndrome"	"OMIM:268305"	"Robin sequence with cleft mandible and limb anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18683"	"EIF4A3"	"OMIM:268305"	"Richieri Costa-Pereira syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:05"	""	""	"24360810, 28334780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF4A30RobinSeq"	"2023-11-30"
"GENCC_000106-HGNC_17097-OMIM_617763-HP_0000007-GENCC_100002"	"HGNC:17097"	"EXOSC2"	"MONDO:0044634"	"retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"	"OMIM:617763"	"Short stature, hearing loss, retinitis pigmentosa, and distinctive facies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17097"	"EXOSC2"	"OMIM:617763"	"retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-05 15:25:09"	""	""	"26843489, 29302074, 30315573, 30950035, 31964843, 33333712, 36069504"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOSC20EXOSC2rel"	"2023-11-30"
"GENCC_000106-HGNC_13590-OMIM_618089-HP_0000006-GENCC_100002"	"HGNC:13590"	"FBXO11"	"MONDO:0060760"	"intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"OMIM:618089"	"Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13590"	"FBXO11"	"OMIM:618089"	"intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:11:58"	""	""	"27620904, 28097321, 28628100, 29796876, 30057029, 30679813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXO110FBXO11rel"	"2023-11-30"
"GENCC_000106-HGNC_16135-OMIM_618635-HP_0000007-GENCC_100002"	"HGNC:16135"	"FITM2"	"MONDO:0032842"	"Siddiqi syndrome"	"OMIM:618635"	"Siddiqi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16135"	"FITM2"	"OMIM:618635"	"Siddiqi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:08"	""	""	"28067622, 30214770, 30288795"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FITM20FITM2rel"	"2023-11-30"
"GENCC_000106-HGNC_24682-OMIM_609033-HP_0000007-GENCC_100002"	"HGNC:24682"	"FLVCR1"	"MONDO:0012177"	"posterior column ataxia-retinitis pigmentosa syndrome"	"OMIM:609033"	"Retinopathy-sensory neuropathy syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24682"	"FLVCR1"	"OMIM:609033"	"posterior column ataxia-retinitis pigmentosa syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 18:21:00"	""	""	"21070897, 21267618, 22279524, 22483575, 23591405, 27353947, 27923065"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLVCR10FLVCR1rel"	"2023-11-30"
"GENCC_000106-HGNC_3816-OMIM_618699-HP_0000006-GENCC_100002"	"HGNC:3816"	"FOXJ1"	"MONDO:0032874"	"ciliary dyskinesia, primary, 43"	"OMIM:618699"	"Ciliary dyskinesia, primary, 43"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3816"	"FOXJ1"	"OMIM:618699"	"ciliary dyskinesia, primary, 43"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-24 22:27:55"	""	""	"31630787, 37158461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXJ10FOXJ1rel"	"2023-11-30"
"GENCC_000106-HGNC_4122-OMIM_253000-HP_0000007-GENCC_100002"	"HGNC:4122"	"GALNS"	"MONDO:0009659"	"mucopolysaccharidosis type 4A"	"OMIM:253000"	"Mucopolysaccharidosis IVA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4122"	"GALNS"	"OMIM:253000"	"mucopolysaccharidosis type 4A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-31 13:45:48"	""	""	"12442278, 148668, 1522213, 15235041, 17347914, 18710657, 24726177, 26147980"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALNS0MPS0IV"	"2023-11-30"
"GENCC_000106-HGNC_4433-OMIM_618721-HP_0000007-GENCC_100002"	"HGNC:4433"	"GOT2"	"MONDO:0032880"	"developmental and epileptic encephalopathy, 82"	"OMIM:618721"	"Developmental and epileptic encephalopathy 82"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4433"	"GOT2"	"OMIM:618721"	"developmental and epileptic encephalopathy, 82"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-20 10:09:11"	""	""	"28720665, 31422819"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GOT20GOT2rel"	"2023-11-30"
"GENCC_000106-HGNC_4462-OMIM_617920-HP_0000007-GENCC_100002"	"HGNC:4462"	"GPNMB"	"MONDO:0054765"	"amyloidosis, primary localized cutaneous, 3"	"OMIM:617920"	"Amyloidosis, primary localized cutaneous, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4462"	"GPNMB"	"OMIM:617920"	"amyloidosis, primary localized cutaneous, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 14:53:17"	""	""	"29336782"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPNMB0ACD"	"2023-11-30"
"GENCC_000106-HGNC_5440-OMIM_614889-HP_0000007-GENCC_100002"	"HGNC:5440"	"IFNGR2"	"MONDO:0013953"	"immunodeficiency 28"	"OMIM:614889"	"Immunodeficiency 28, mycobacteriosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5440"	"IFNGR2"	"OMIM:614889"	"immunodeficiency 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-13 12:28:45"	""	""	"23161749, 25135595"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFNGR20MSMD"	"2023-11-30"
"GENCC_000106-HGNC_5970-OMIM_614890-HP_0000007-GENCC_100002"	"HGNC:5970"	"IL12B"	"MONDO:0013954"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"	"OMIM:614890"	"Immunodeficiency 29, mycobacteriosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5970"	"IL12B"	"OMIM:614890"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"11753820, 23429356"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL12B0MSMD"	"2023-11-30"
"GENCC_000106-HGNC_5971-OMIM_614891-HP_0000007-GENCC_100002"	"HGNC:5971"	"IL12RB1"	"MONDO:0013955"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"	"OMIM:614891"	"Immunodeficiency 30"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5971"	"IL12RB1"	"OMIM:614891"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-18 20:43:03"	""	""	"12591909, 9603733"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL12RB10MSMD"	"2023-11-30"
"GENCC_000106-HGNC_5985-OMIM_613953-HP_0000007-GENCC_100002"	"HGNC:5985"	"IL17RA"	"MONDO:0013500"	"immunodeficiency 51"	"OMIM:613953"	"Immunodeficiency 51"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5985"	"IL17RA"	"OMIM:613953"	"immunodeficiency 51"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"21350122, 26607704, 27930337, 28090315"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL17RA0Candidiasis"	"2023-11-30"
"GENCC_000106-HGNC_4053-OMIM_616126-HP_0000007-GENCC_100002"	"HGNC:4053"	"ISG15"	"MONDO:0014502"	"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"	"OMIM:616126"	"Immunodeficiency 38"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4053"	"ISG15"	"OMIM:616126"	"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-18 19:06:48"	""	""	"22859821, 25307056"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ISG150MSMD"	"2023-11-30"
"GENCC_000106-HGNC_6176-OMIM_616647-HP_0000007-GENCC_100002"	"HGNC:6176"	"ITPA"	"MONDO:0014719"	"developmental and epileptic encephalopathy, 35"	"OMIM:616647"	"Developmental and epileptic encephalopathy 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6176"	"ITPA"	"OMIM:616647"	"developmental and epileptic encephalopathy, 35"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-19 15:14:20"	""	""	"17304144, 19498443, 26224535, 30816001"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITPA0InosineTridef"	"2023-11-30"
"GENCC_000106-HGNC_13013-OMIM_616268-HP_0000006-GENCC_100002"	"HGNC:13013"	"KAT6A"	"MONDO:0014558"	"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"OMIM:616268"	"Arboleda-Tham syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13013"	"KAT6A"	"OMIM:616268"	"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 16:28:48"	""	""	"25728775, 25728777, 27133397"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KAT6A0KAT6Arel"	"2023-11-30"
"GENCC_000106-HGNC_6279-OMIM_618381-HP_0000006-GENCC_100002"	"HGNC:6279"	"KCNK4"	"MONDO:0032714"	"facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"	"OMIM:618381"	"Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6279"	"KCNK4"	"OMIM:618381"	"facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-28 03:17:21"	""	""	"30290154, 37750049"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNK40EIEE"	"2023-11-30"
"GENCC_000106-HGNC_6299-OMIM_617601-HP_0000006-GENCC_100002"	"HGNC:6299"	"KCNQ5"	"MONDO:0030911"	"intellectual disability, autosomal dominant 46"	"OMIM:617601"	"Intellectual developmental disorder, autosomal dominant 46"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6299"	"KCNQ5"	"OMIM:617601"	"intellectual disability, autosomal dominant 46"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-26 13:19:23"	""	""	"28669405, 30525188, 31164858, 32938993, 35377796, 35583973, 36088682"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ50EIEE"	"2023-11-30"
"GENCC_000106-HGNC_1337-OMIM_618846-HP_0000006-GENCC_100002"	"HGNC:1337"	"KDM3B"	"MONDO:0030012"	"Diets-Jongmans syndrome"	"OMIM:618846"	"Diets-Jongmans syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1337"	"KDM3B"	"OMIM:618846"	"Diets-Jongmans syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-13 19:59:18"	""	""	"25420024, 30929739"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDM3B0KDM3Brel"	"2023-11-30"
"GENCC_000106-HGNC_26953-OMIM_617822-HP_0000007-GENCC_100002"	"HGNC:26953"	"BLTP1"	"MONDO:0060631"	"Alkuraya-Kucinskas syndrome"	"OMIM:617822"	"Alkuraya-Kucinskas syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26953"	"BLTP1"	"OMIM:617822"	"Alkuraya-Kucinskas syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-15 15:37:28"	""	""	"25558065, 29290337"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA11090KIAA1109rel"	"2023-11-30"
"GENCC_000106-HGNC_24283-OMIM_617788-HP_0000006-GENCC_100002"	"HGNC:24283"	"KMT5B"	"MONDO:0030917"	"intellectual disability, autosomal dominant 51"	"OMIM:617788"	"Intellectual developmental disorder, autosomal dominant 51"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24283"	"KMT5B"	"OMIM:617788"	"intellectual disability, autosomal dominant 51"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-23 15:17:55"	""	""	"22495306, 22542183, 23665959, 27824329, 28191889, 28263302, 28554332, 28808027, 29276005"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KMT5B0KMT5Brel"	"2023-11-30"
"GENCC_000106-HGNC_14154-OMIM_246650-HP_0000007-GENCC_100002"	"HGNC:14154"	"LMF1"	"MONDO:0009527"	"lipase deficiency, combined"	"OMIM:246650"	"Lipase deficiency, combined"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14154"	"LMF1"	"OMIM:246650"	"lipase deficiency, combined"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-06 16:18:31"	""	""	"17994020, 19820022, 22135386, 22239554, 27108409, 27578109, 28391895, 36689289"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMF10Chylomicronemia"	"2023-11-30"
"GENCC_000106-HGNC_6884-OMIM_618443-HP_0000006-GENCC_100002"	"HGNC:6884"	"MAPK8IP3"	"MONDO:0032755"	"neurodevelopmental disorder with or without variable brain abnormalities; NEDBA"	"OMIM:618443"	"Neurodevelopmental disorder with or without variable brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6884"	"MAPK8IP3"	"OMIM:618443"	"neurodevelopmental disorder with or without variable brain abnormalities; NEDBA"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:17"	""	""	"25363768, 28191890, 28213671, 30612693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPK8IP30MAPK8IP3rel"	"2023-11-30"
"GENCC_000106-HGNC_15505-OMIM_617188-HP_0000007-GENCC_100002"	"HGNC:15505"	"MBOAT7"	"MONDO:0014962"	"intellectual disability, autosomal recessive 57"	"OMIM:617188"	"Intellectual developmental disorder, autosomal recessive 57"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15505"	"MBOAT7"	"OMIM:617188"	"intellectual disability, autosomal recessive 57"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-28 16:00:10"	""	""	"27616480, 30701556"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MBOAT70MBOAT7rel"	"2023-11-30"
"GENCC_000106-HGNC_6996-OMIM_613443-HP_0000006-GENCC_100002"	"HGNC:6996"	"MEF2C"	"MONDO:0013266"	"intellectual disability, autosomal dominant 20"	"OMIM:613443"	"Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6996"	"MEF2C"	"OMIM:613443"	"intellectual disability, autosomal dominant 20"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-10 14:29:28"	""	""	"20513142, 23001426, 27255693, 28794905, 30922778"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MEF2C0MEF2Crelated"	"2023-11-30"
"GENCC_000106-HGNC_24858-OMIM_617086-HP_0000007-GENCC_100002"	"HGNC:24858"	"MFF"	"MONDO:0014905"	"encephalopathy due to defective mitochondrial and peroxisomal fission 2"	"OMIM:617086"	"Encephalopathy due to defective mitochondrial and peroxisomal fission 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24858"	"MFF"	"OMIM:617086"	"encephalopathy due to defective mitochondrial and peroxisomal fission 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-19 18:03:05"	""	""	"22499341, 26783368, 30581454"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MFF0MFFrel"	"2023-11-30"
"GENCC_000106-HGNC_7104-OMIM_617228-HP_0000007-GENCC_100002"	"HGNC:7104"	"MIPEP"	"MONDO:0014976"	"lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"	"OMIM:617228"	"Combined oxidative phosphorylation deficiency 31"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7104"	"MIPEP"	"OMIM:617228"	"lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 10:06:10"	""	""	"27799064, 34620555"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIPEP0OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_31527-OMIM_618618-HP_0000006-GENCC_100002"	"HGNC:31527"	"MIR140"	"MONDO:0032835"	"spondyloepiphyseal dysplasia, nishimura type"	"OMIM:618618"	"Spondyloepiphyseal dysplasia, Nishimura type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31527"	"MIR140"	"OMIM:618618"	"spondyloepiphyseal dysplasia, nishimura type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-10-15 07:40:03"	""	""	"30804514"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIR1400MIR140rel"	"2023-11-30"
"GENCC_000106-HGNC_7370-OMIM_301032-HP_0001417-GENCC_100002"	"HGNC:7370"	"MSL3"	"MONDO:0026730"	"Basilicata-Akhtar syndrome"	"OMIM:301032"	"Basilicata-Akhtar syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7370"	"MSL3"	"OMIM:301032"	"Basilicata-Akhtar syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:18"	""	""	"11600773, 11633731, 11797224, 12249902, 30224647"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSL30MSL3rel"	"2023-11-30"
"GENCC_000106-HGNC_20967-OMIM_617393-HP_0000006-GENCC_100002"	"HGNC:20967"	"NACC1"	"MONDO:0044306"	"neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"	"OMIM:617393"	"Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20967"	"NACC1"	"OMIM:617393"	"neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-19 15:20:01"	""	""	"24896178, 28132692, 30842647, 31036916, 31231135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NACC10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_29866-OMIM_618356-HP_0000007-GENCC_100002"	"HGNC:29866"	"NFASC"	"MONDO:0032698"	"neurodevelopmental disorder with central and peripheral motor dysfunction"	"OMIM:618356"	"Neurodevelopmental disorder with central and peripheral motor dysfunction"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29866"	"NFASC"	"OMIM:618356"	"neurodevelopmental disorder with central and peripheral motor dysfunction"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:19"	""	""	"16337912, 19185024, 27513193, 28940097, 30124836, 31501903, 31608123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFASC0NFASCrel"	"2023-11-30"
"GENCC_000106-HGNC_7784-OMIM_613735-HP_0000006-GENCC_100002"	"HGNC:7784"	"NFIA"	"MONDO:0100478"	"brain malformations with or without urinary tract defects"	"OMIM:613735"	"Brain malformations with or without urinary tract defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7784"	"NFIA"	"OMIM:613735"	"chromosome 1p32-p31 deletion syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-02 18:07:48"	""	""	"10518556, 22031302, 27081522, 28941020, 31730271"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFIA0NFIArel"	"2023-11-30"
"GENCC_000106-HGNC_14287-OMIM_300495-HP_0001417-GENCC_100002"	"HGNC:14287"	"NLGN4X"	"MONDO:0010341"	"autism, susceptibility to, X-linked 2"	"OMIM:300495"	"{Autism susceptibility, X-linked 2}"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:14287"	"NLGN4X"	"OMIM:300495"	"autism, susceptibility to, X-linked 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-04 09:31:44"	""	""	"12669065, 14963808, 15622415, 18227507, 18231125, 19726642, 21642956, 23183221, 23352163, 27725662, 28263302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLGN4X0NLGN4Xrel"	"2023-11-30"
"GENCC_000106-HGNC_18017-OMIM_618178-HP_0000007-GENCC_100002"	"HGNC:18017"	"NUP160"	"MONDO:0032582"	"nephrotic syndrome, type 19"	"OMIM:618178"	"?Nephrotic syndrome, type 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18017"	"NUP160"	"OMIM:618178"	"nephrotic syndrome, type 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-28 13:11:16"	""	""	"30179222, 30910934"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1600NUP160rel"	"2023-11-30"
"GENCC_000106-HGNC_8756-OMIM_618770-HP_0000007-GENCC_100002"	"HGNC:8756"	"PCYT2"	"MONDO:0032906"	"spastic paraplegia 82, autosomal recessive"	"OMIM:618770"	"Spastic paraplegia 82, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8756"	"PCYT2"	"OMIM:618770"	"spastic paraplegia 82, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:59:25"	""	""	"31637422, 32889549, 33230519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCYT20PCYT2rel"	"2023-11-30"
"GENCC_000106-HGNC_17893-OMIM_614207-HP_0000007-GENCC_100002"	"HGNC:17893"	"PGAP2"	"MONDO:0013628"	"hyperphosphatasia with intellectual disability syndrome 3"	"OMIM:614207"	"Hyperphosphatasia with impaired intellectual development syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17893"	"PGAP2"	"OMIM:614207"	"hyperphosphatasia with intellectual disability syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-06 22:24:37"	""	""	"107271, 125240, 21629298, 23561847, 26879448, 29119105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PGAP20Hyperpho02"	"2023-11-30"
"GENCC_000106-HGNC_23719-OMIM_615716-HP_0000007-GENCC_100002"	"HGNC:23719"	"PGAP3"	"MONDO:0014318"	"hyperphosphatasia with intellectual disability syndrome 4"	"OMIM:615716"	"Hyperphosphatasia with impaired intellectual development syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23719"	"PGAP3"	"OMIM:615716"	"hyperphosphatasia with intellectual disability syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-04 01:24:04"	""	""	"2443911, 24439110, 27120253"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PGAP30Hyperpho"	"2023-11-30"
"GENCC_000106-HGNC_24156-OMIM_618725-HP_0000006-GENCC_100002"	"HGNC:24156"	"PHF21A"	"MONDO:0032883"	"intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures"	"OMIM:618725"	"Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24156"	"PHF21A"	"OMIM:618725"	"intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-29 14:30:58"	""	""	"22770980, 30487643, 31649809, 36158052, 36555772"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHF21A0PHF21Arel"	"2023-11-30"
"GENCC_000106-HGNC_23352-OMIM_617767-HP_0000007-GENCC_100002"	"HGNC:23352"	"PIBF1"	"MONDO:0033311"	"Joubert syndrome 33"	"OMIM:617767"	"Joubert syndrome 33"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23352"	"PIBF1"	"OMIM:617767"	"Joubert syndrome 33"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"222572, 2351638, 244206, 249850, 26167768, 26297806, 273344, 282554, 28688840, 31474318, 33004012"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIBF10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_25985-OMIM_616917-HP_0000007-GENCC_100002"	"HGNC:25985"	"PIGG"	"MONDO:0014832"	"intellectual disability, autosomal recessive 53"	"OMIM:616917"	"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25985"	"PIGG"	"OMIM:616917"	"intellectual disability, autosomal recessive 53"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-14 08:49:55"	""	""	"26996948, 28581210, 28771251"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGG0CDG"	"2023-11-30"
"GENCC_000106-HGNC_18053-OMIM_617205-HP_0000007-GENCC_100002"	"HGNC:18053"	"PKD1L1"	"MONDO:0014967"	"heterotaxy, visceral, 8, autosomal"	"OMIM:617205"	"Heterotaxy, visceral, 8, autosomal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18053"	"PKD1L1"	"OMIM:617205"	"heterotaxy, visceral, 8, autosomal"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 13:26:41"	""	""	"20080492, 27272319, 27616478, 28472652, 28991257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKD1L10PKD1L1rel"	"2023-11-30"
"GENCC_000106-HGNC_9312-OMIM_616355-HP_0000006-GENCC_100002"	"HGNC:9312"	"PPP2R5D"	"MONDO:0014602"	"Hogue-Janssens syndrome 1"	"OMIM:616355"	"Houge-Janssens syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9312"	"PPP2R5D"	"OMIM:616355"	"intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 14:06:56"	""	""	"26576547, 28867141, 34448180, 36216457, 36403339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP2R5D0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_13420-OMIM_617481-HP_0000007-GENCC_100002"	"HGNC:13420"	"PRUNE1"	"MONDO:0060490"	"neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"	"OMIM:617481"	"Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13420"	"PRUNE1"	"OMIM:617481"	"neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:23:04"	""	""	"26539891, 28334956, 29797509"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRUNE10PRUNE1rel"	"2023-11-30"
"GENCC_000106-HGNC_9557-OMIM_617516-HP_0000006-GENCC_100002"	"HGNC:9557"	"PSMD12"	"MONDO:0054591"	"Stankiewicz-Isidor syndrome"	"OMIM:617516"	"Stankiewicz-Isidor syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9557"	"PSMD12"	"OMIM:617516"	"Stankiewicz-Isidor syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 09:28:19"	""	""	"28132691, 34429528, 35080150"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSMD120PSMD12rel"	"2023-11-30"
"GENCC_000106-HGNC_14966-OMIM_269400-HP_0000007-GENCC_100002"	"HGNC:14966"	"PXDN"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"OMIM:269400"	"Anterior segment dysgenesis 7, with sclerocornea"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14966"	"PXDN"	"OMIM:269400"	"anterior segment dysgenesis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:24:30"	""	""	"21907015, 24939590"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PXDN0CorenealOpac"	"2023-11-30"
"GENCC_000106-HGNC_9761-OMIM_617807-HP_0000006-GENCC_100002"	"HGNC:9761"	"RAB11B"	"MONDO:0060624"	"neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"OMIM:617807"	"Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9761"	"RAB11B"	"OMIM:617807"	"neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 15:54:10"	""	""	"29106825, 31674007, 33644862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB11B0RAB11Brel"	"2023-11-30"
"GENCC_000106-HGNC_9803-OMIM_618577-HP_0000006-GENCC_100002"	"HGNC:9803"	"RAC3"	"MONDO:0032820"	"neurodevelopmental disorder with structural brain anomalies and dysmorphic facies"	"OMIM:618577"	"Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9803"	"RAC3"	"OMIM:618577"	"neurodevelopmental disorder with structural brain anomalies and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 14:43:36"	""	""	"29276006, 30293988"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAC30RAC3rel"	"2023-11-30"
"GENCC_000106-HGNC_9965-OMIM_616975-HP_0000006-GENCC_100002"	"HGNC:9965"	"RERE"	"MONDO:0014857"	"neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"	"OMIM:616975"	"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9965"	"RERE"	"OMIM:616975"	"neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 16:16:59"	""	""	"27087320, 29330883"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RERE0RERErel"	"2023-11-30"
"GENCC_000106-HGNC_18756-OMIM_618004-HP_0000006-GENCC_100002"	"HGNC:18756"	"RHOBTB2"	"MONDO:0033373"	"developmental and epileptic encephalopathy, 64"	"OMIM:618004"	"Developmental and epileptic encephalopathy 64"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18756"	"RHOBTB2"	"OMIM:618004"	"developmental and epileptic encephalopathy, 64"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 17:42:58"	""	""	"26740508, 28856709, 29276004, 29768694, 31780880, 31957018, 33619735, 34489640, 35231114, 35586607, 36672771"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHOBTB20RettSyn"	"2023-11-30"
"GENCC_000106-HGNC_686-OMIM_618307-HP_0000007-GENCC_100002"	"HGNC:686"	"RHOH"	"MONDO:0032666"	"epidermodysplasia verruciformis, susceptibility to, 4"	"OMIM:618307"	"Immunodeficiency 129"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:686"	"RHOH"	"OMIM:618307"	"epidermodysplasia verruciformis, susceptibility to, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-05 10:19:46"	""	""	"22850876"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHOH0RHOHrel"	"2023-11-30"
"GENCC_000106-HGNC_16175-OMIM_206800-HP_0000007-GENCC_100002"	"HGNC:16175"	"RSPO4"	"MONDO:0008798"	"nonsyndromic congenital nail disorder 4"	"OMIM:206800"	"Anonychia congenita"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16175"	"RSPO4"	"OMIM:206800"	"nonsyndromic congenital nail disorder 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-11 12:19:54"	""	""	"17041604, 17186469, 17914448, 22300369"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSPO40Anonychi"	"2023-11-30"
"GENCC_000106-HGNC_18654-OMIM_614833-HP_0000007-GENCC_100002"	"HGNC:18654"	"RTTN"	"MONDO:0018764"	"microcephalic primordial dwarfism due to RTTN deficiency"	"OMIM:614833"	"Microcephaly, short stature, and polymicrogyria with seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18654"	"RTTN"	"OMIM:614833"	"bilateral generalized polymicrogyria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-28 09:31:03"	""	""	"11900971, 22541559, 22939636, 26608764, 26608784, 26846091, 26940245, 29356416, 30879067"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RTTN0RTTNrel"	"2023-11-30"
"GENCC_000106-HGNC_8941-OMIM_613490-HP_0000007-GENCC_100002"	"HGNC:8941"	"SERPINA1"	"MONDO:0013282"	"alpha 1-antitrypsin deficiency"	"OMIM:613490"	"Emphysema-cirrhosis, due to AAT deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8941"	"SERPINA1"	"OMIM:613490"	"alpha 1-antitrypsin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-09 11:53:30"	""	""	"20301692, 21248733, 25425243"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINA10SERPINA1rel"	"2023-11-30"
"GENCC_000106-HGNC_28395-OMIM_126550-HP_0000006-GENCC_100002"	"HGNC:28395"	"SGMS2"	"MONDO:0007470"	"calvarial doughnut lesions-bone fragility syndrome"	"OMIM:126550"	"Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28395"	"SGMS2"	"OMIM:126550"	"calvarial doughnut lesions-bone fragility syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:37"	""	""	"30779713, 32028018"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SGMS20SGMS2rel"	"2023-11-30"
"GENCC_000106-HGNC_28380-OMIM_618416-HP_0000007-GENCC_100002"	"HGNC:28380"	"SLC25A42"	"MONDO:0032736"	"metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression"	"OMIM:618416"	"Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28380"	"SLC25A42"	"OMIM:618416"	"metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-06-03 14:00:34"	""	""	"26541337, 29327420, 29923093, 30237576, 34258143"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A420MitoMyopathy"	"2023-11-30"
"GENCC_000106-HGNC_11041-OMIM_618973-HP_0000007-GENCC_100002"	"HGNC:11041"	"SLC5A6"	"MONDO:0033546"	"neurodegeneration, infantile-onset, biotin-responsive"	"OMIM:618973"	"Sodium-dependent multivitamin transporter deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11041"	"SLC5A6"	"OMIM:618973"	"neurodegeneration, infantile-onset, biotin-responsive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:15:28"	""	""	"27904971, 28135719, 31392107, 31754459, 37391029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC5A60SLC5A6rel"	"2023-11-30"
"GENCC_000106-HGNC_17123-OMIM_301024-HP_0001417-GENCC_100002"	"HGNC:17123"	"SLC9A7"	"MONDO:0026723"	"intellectual developmental disorder, X-linked 108"	"OMIM:301024"	"Intellectual developmental disorder, X-linked 108"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:17123"	"SLC9A7"	"OMIM:301024"	"x-linked intellectual developmental disorder 108"	"HP:0001417"	"X-linked"	"GENCC:000106"	"INVITAE"	"GENCC:100002"	"STRONG"	"2020-06-24 00:00:00"	""	""	"30335141"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/946"	"SLC9A70SLC9A7rel"	"2021-05-25"
"GENCC_000106-HGNC_20373-OMIM_248900-HP_0000007-GENCC_100002"	"HGNC:20373"	"SPG21"	"MONDO:0009568"	"mast syndrome"	"OMIM:248900"	"Mast syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20373"	"SPG21"	"OMIM:248900"	"mast syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-07 15:29:57"	""	""	"11113139, 14564668, 19184135, 20631613"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPG210SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_11274-OMIM_616649-HP_0000006-GENCC_100002"	"HGNC:11274"	"SPTB"	"MONDO:0000913"	"hereditary spherocytosis type 2"	"OMIM:616649"	"Spherocytosis, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11274"	"SPTB"	"OMIM:616649"	"hereditary spherocytosis type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-16 02:42:14"	""	""	"26830532, 27292444, 8844207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTB0SPTBrel"	"2023-11-30"
"GENCC_000106-HGNC_14896-OMIM_617519-HP_0000007-GENCC_100002"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"OMIM:617519"	"Neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14896"	"SPTBN4"	"OMIM:617519"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-28 09:21:30"	""	""	"11528393, 28540413, 28582869, 28940097, 29861105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTBN40SPTBN4rel"	"2023-11-30"
"GENCC_000106-HGNC_11285-OMIM_264600-HP_0000007-GENCC_100002"	"HGNC:11285"	"SRD5A2"	"MONDO:0009923"	"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency"	"OMIM:264600"	"Pseudovaginal perineoscrotal hypospadias"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11285"	"SRD5A2"	"OMIM:264600"	"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-17 13:44:16"	""	""	"1406794, 1944596, 20736251, 22453073, 28663096, 7554313, 8768837"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRD5A20S5AR"	"2023-11-30"
"GENCC_000106-HGNC_11354-OMIM_617635-HP_0000006-GENCC_100002"	"HGNC:11354"	"STAG1"	"MONDO:0030912"	"intellectual disability, autosomal dominant 47"	"OMIM:617635"	"Intellectual developmental disorder, autosomal dominant 47"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11354"	"STAG1"	"OMIM:617635"	"intellectual disability, autosomal dominant 47"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:52:51"	""	""	"28119487, 30158690, 34440290, 34914139"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAG10STAG1rel"	"2023-11-30"
"GENCC_000106-HGNC_17101-OMIM_618786-HP_0000006-GENCC_100002"	"HGNC:17101"	"SUZ12"	"MONDO:0032916"	"Imagawa-Matsumoto syndrome"	"OMIM:618786"	"Imagawa-Matsumoto syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17101"	"SUZ12"	"OMIM:618786"	"Imagawa-Matsumoto syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-21 20:52:19"	""	""	"28213670, 28229514, 28776093, 29130599, 30019515, 31736240, 36919607"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUZ120IMMAS"	"2023-11-30"
"GENCC_000106-HGNC_25439-OMIM_616878-HP_0000007-GENCC_100002"	"HGNC:25439"	"TANGO2"	"MONDO:0018820"	"recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"	"OMIM:616878"	"Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25439"	"TANGO2"	"OMIM:616878"	"metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-21 19:00:31"	""	""	"26805781, 26805782"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TANGO20MECRCN"	"2023-11-30"
"GENCC_000106-HGNC_11581-OMIM_617193-HP_0000007-GENCC_100002"	"HGNC:11581"	"TBCD"	"MONDO:0044646"	"early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"	"OMIM:617193"	"Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11581"	"TBCD"	"OMIM:617193"	"early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-23 18:24:28"	""	""	"27666370, 27666374, 27807845, 31395954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBCD0TBCDrel"	"2023-11-30"
"GENCC_000106-HGNC_11596-OMIM_201400-HP_0000007-GENCC_100002"	"HGNC:11596"	"TBX19"	"MONDO:0008720"	"congenital isolated adrenocorticotropic hormone deficiency"	"OMIM:201400"	"Adrenocorticotropic hormone deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11596"	"TBX19"	"OMIM:201400"	"congenital isolated adrenocorticotropic hormone deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 19:40:02"	""	""	"11290323, 15613420, 22170728, 27535729, 28458651, 29858850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX190IAD"	"2023-11-30"
"GENCC_000106-HGNC_20185-OMIM_617478-HP_0000007-GENCC_100002"	"HGNC:20185"	"TMEM260"	"MONDO:0044321"	"structural heart defects and renal anomalies syndrome"	"OMIM:617478"	"Structural heart defects and renal anomalies syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20185"	"TMEM260"	"OMIM:617478"	"structural heart defects and renal anomalies syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-19 18:23:48"	""	""	"28318500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM2600TMEM260syndrome"	"2023-11-30"
"GENCC_000106-HGNC_29118-OMIM_618688-HP_0000006-GENCC_100002"	"HGNC:29118"	"TMEM63A"	"MONDO:0032871"	"leukodystrophy, hypomyelinating, 19, transient infantile"	"OMIM:618688"	"Leukodystrophy, hypomyelinating, 19, transient infantile"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29118"	"TMEM63A"	"OMIM:618688"	"leukodystrophy, hypomyelinating, 19, transient infantile"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 10:36:25"	""	""	"23999434, 31587869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM63A0TMEM63Arel"	"2023-11-30"
"GENCC_000106-HGNC_24284-OMIM_617669-HP_0000007-GENCC_100002"	"HGNC:24284"	"TRAPPC12"	"MONDO:0044696"	"early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"	"OMIM:617669"	"Encephalopathy, progressive, early-onset, with brain atrophy and spasticity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24284"	"TRAPPC12"	"OMIM:617669"	"early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-03 09:06:38"	""	""	"28777934"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAPPC120TRAPPC12rel"	"2023-11-30"
"GENCC_000106-HGNC_12299-OMIM_618573-HP_0000007-GENCC_100002"	"HGNC:12299"	"TRHR"	"MONDO:0032819"	"hypothyroidism, congenital, nongoitrous, 7"	"OMIM:618573"	"Hypothyroidism, congenital, nongoitrous, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12299"	"TRHR"	"OMIM:618573"	"hypothyroidism, congenital, nongoitrous, 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:31"	""	""	"19213691, 19213692, 26735259, 28419241, 9141550"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRHR0Thyrotro"	"2023-11-30"
"GENCC_000106-HGNC_12306-OMIM_617752-HP_0000006-GENCC_100002"	"HGNC:12306"	"TRIP12"	"MONDO:0030914"	"Clark-Baraitser syndrome"	"OMIM:617752"	"Intellectual developmental disorder, autosomal dominant 49"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12306"	"TRIP12"	"OMIM:617752"	"Clark-Baraitser syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-10 01:18:47"	""	""	"22028794, 22542183, 25418537, 27848077, 28251352, 30315573, 32371413, 32424948, 32581362, 34015165, 34697084, 35231114, 36747006"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIP120TRIP12rel"	"2023-11-30"
"GENCC_000106-HGNC_26262-OMIM_615541-HP_0000007-GENCC_100002"	"HGNC:26262"	"TTI2"	"MONDO:0014238"	"severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"	"OMIM:615541"	"Intellectual developmental disorder, autosomal recessive 39"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26262"	"TTI2"	"OMIM:615541"	"severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 19:56:12"	""	""	"17120046, 21937992, 23956177, 31290144, 31737043"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTI20TTI2rel"	"2023-11-30"
"GENCC_000106-HGNC_12440-OMIM_611521-HP_0000007-GENCC_100002"	"HGNC:12440"	"TYK2"	"MONDO:0012682"	"immunodeficiency 35"	"OMIM:611521"	"Immunodeficiency 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12440"	"TYK2"	"OMIM:611521"	"immunodeficiency 35"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-22 21:58:03"	""	""	"11070173, 11070174, 17088085, 22402565, 26304966"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TYK20MSMD"	"2023-11-30"
"GENCC_000106-HGNC_12511-OMIM_617672-HP_0000006-GENCC_100002"	"HGNC:12511"	"UBTF"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"OMIM:617672"	"Neurodegeneration, childhood-onset, with brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12511"	"UBTF"	"OMIM:617672"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 19:00:28"	""	""	"28777933, 29300972"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBTF0UBTFrel"	"2023-11-30"
"GENCC_000106-HGNC_26941-OMIM_618076-HP_0000007-GENCC_100002"	"HGNC:26941"	"UFC1"	"MONDO:0060752"	"neurodevelopmental disorder with spasticity and poor growth"	"OMIM:618076"	"Neurodevelopmental disorder with spasticity and poor growth"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26941"	"UFC1"	"OMIM:618076"	"neurodevelopmental disorder with spasticity and poor growth"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"27431290, 29868776, 30552426"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UFC10EIEE PM RE"	"2023-11-30"
"GENCC_000106-HGNC_12682-OMIM_615907-HP_0000006-GENCC_100002"	"HGNC:12682"	"VEGFC"	"MONDO:0014393"	"lymphatic malformation 4"	"OMIM:615907"	"Lymphatic malformation 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12682"	"VEGFC"	"OMIM:615907"	"lymphatic malformation 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:10:21"	""	""	"14634646, 23410910, 24744435, 25260786"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VEGFC0HerLymph1"	"2023-11-30"
"GENCC_000106-HGNC_21208-OMIM_617616-HP_0000006-GENCC_100002"	"HGNC:21208"	"WDR26"	"MONDO:0054636"	"Skraban-Deardorff syndrome"	"OMIM:617616"	"Skraban-Deardorff syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21208"	"WDR26"	"OMIM:617616"	"Skraban-Deardorff syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 13:29:50"	""	""	"28686853"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR260WDR26rel"	"2023-11-30"
"GENCC_000106-HGNC_16740-OMIM_618383-HP_0000007-GENCC_100002"	"HGNC:16740"	"ZBTB11"	"MONDO:0032715"	"intellectual developmental disorder, autosomal recessive 69"	"OMIM:618383"	"Intellectual developmental disorder, autosomal recessive 69"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16740"	"ZBTB11"	"OMIM:618383"	"intellectual developmental disorder, autosomal recessive 69"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-10 15:40:27"	""	""	"29893856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZBTB110ZBTB11rel"	"2023-11-30"
"GENCC_000106-HGNC_13030-OMIM_612337-HP_0000006-GENCC_100002"	"HGNC:13030"	"ZBTB18"	"MONDO:0012869"	"intellectual disability, autosomal dominant 22"	"OMIM:612337"	"Intellectual developmental disorder, autosomal dominant 22"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13030"	"ZBTB18"	"OMIM:612337"	"intellectual disability, autosomal dominant 22"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-04 21:30:36"	""	""	"19409883, 22095278, 23494996, 24193349, 27598823, 28283832, 29158550, 29573576"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZBTB180ZBTB18-rel"	"2023-11-30"
"GENCC_000106-HGNC_12927-OMIM_618425-HP_0000007-GENCC_100002"	"HGNC:12927"	"ZNF142"	"MONDO:0032741"	"neurodevelopmental disorder with impaired speech and hyperkinetic movements"	"OMIM:618425"	"Neurodevelopmental disorder with impaired speech and hyperkinetic movements"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12927"	"ZNF142"	"OMIM:618425"	"neurodevelopmental disorder with impaired speech and hyperkinetic movements"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 19:23:55"	""	""	"31036918, 35616059"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF1420ZNF142rel"	"2023-11-30"
"GENCC_000107-HGNC_25662-OMIM_148600-HP_0000006-GENCC_100002"	"HGNC:25662"	"AAGAB"	"MONDO:0007858"	"palmoplantar keratoderma, punctate type 1A"	"OMIM:148600"	"Keratoderma, palmoplantar, punctate type IA"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:25662"	"AAGAB"	"OMIM:148600"	"Keratoderma, palmoplantar, punctate type IA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-19 13:37:06"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC1"	"2021-04-01"
"GENCC_000107-HGNC_21022-OMIM_615889-HP_0000007-GENCC_100001"	"HGNC:21022"	"AARS2"	"MONDO:0014387"	"leukoencephalopathy, progressive, with ovarian failure"	"OMIM:615889"	"Leukoencephalopathy, progressive, with ovarian failure"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:21022"	"AARS2"	"OMIM:615889"	"Leukoencephalopathy, progressive, with ovarian failure"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-14 13:37:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC2"	"2021-04-01"
"GENCC_000107-HGNC_34-OMIM_248200-HP_0000007-GENCC_100001"	"HGNC:34"	"ABCA4"	"MONDO:0009549"	"severe early-childhood-onset retinal dystrophy"	"OMIM:248200"	"Stargardt disease 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:34"	"ABCA4"	"OMIM:248200"	"Stargardt disease 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC3"	"2021-04-01"
"GENCC_000107-HGNC_57-OMIM_264800-HP_0000007-GENCC_100001"	"HGNC:57"	"ABCC6"	"MONDO:0009925"	"autosomal recessive inherited pseudoxanthoma elasticum"	"OMIM:264800"	"{Pseudoxanthoma elasticum, modifier of severity of}"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:57"	"ABCC6"	"OMIM:264800"	"Pseudoxanthoma elasticum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC4"	"2021-04-01"
"GENCC_000107-HGNC_61-OMIM_300100-HP_0001417-GENCC_100001"	"HGNC:61"	"ABCD1"	"MONDO:0010247"	"X-linked cerebral adrenoleukodystrophy"	"OMIM:300100"	"Adrenomyeloneuropathy, adult"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:61"	"ABCD1"	"OMIM:300100"	"Adrenoleukodystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC5"	"2021-04-01"
"GENCC_000107-HGNC_13886-OMIM_210250-HP_0000007-GENCC_100001"	"HGNC:13886"	"ABCG5"	"MONDO:0020747"	"sitosterolemia 1"	"OMIM:210250"	"Sitosterolemia 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:13886"	"ABCG5"	"OMIM:210250"	"Sitosterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-25 13:37:08"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC6"	"2021-04-01"
"GENCC_000107-HGNC_164-MONDO_0000591-HP_0000006-GENCC_100003"	"HGNC:164"	"ACTN2"	"MONDO:0000591"	"intrinsic cardiomyopathy"	"MONDO:0000591"	"intrinsic cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:164"	"ACTN2"	"MONDO:0000591"	"Intrinsic cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-03-24 13:37:08"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC7"	"2021-04-01"
"GENCC_000107-HGNC_19706-OMIM_225200-HP_0000007-GENCC_100002"	"HGNC:19706"	"ADAMTSL4"	"MONDO:0009153"	"ectopia lentis et pupillae"	"OMIM:225200"	"Ectopia lentis et pupillae"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:19706"	"ADAMTSL4"	"OMIM:225200"	"Ectopia lentis et pupillae"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-26 13:37:09"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC9"	"2021-04-01"
"GENCC_000107-HGNC_321-OMIM_232400-HP_0000007-GENCC_100001"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"OMIM:232400"	"Glycogen storage disease IIIb"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:321"	"AGL"	"OMIM:232400"	"Glycogen storage disease IIIa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-25 13:37:09"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC10"	"2021-04-01"
"GENCC_000107-HGNC_327-OMIM_600121-HP_0000007-GENCC_100001"	"HGNC:327"	"AGPS"	"MONDO:0010823"	"rhizomelic chondrodysplasia punctata type 3"	"OMIM:600121"	"Rhizomelic chondrodysplasia punctata, type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:327"	"AGPS"	"OMIM:600121"	"Rhizomelic chondrodysplasia punctata, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-20 13:37:09"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC11"	"2021-04-01"
"GENCC_000107-HGNC_21575-OMIM_608629-HP_0000007-GENCC_100001"	"HGNC:21575"	"AHI1"	"MONDO:0012078"	"Joubert syndrome 3"	"OMIM:608629"	"Joubert syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:21575"	"AHI1"	"OMIM:608629"	"Joubert syndrome-3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-07-13 13:37:09"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC12"	"2021-04-01"
"GENCC_000107-HGNC_438-OMIM_241510-HP_0000007-GENCC_100001"	"HGNC:438"	"ALPL"	"MONDO:0009428"	"childhood hypophosphatasia"	"OMIM:241510"	"Hypophosphatasia, childhood"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:438"	"ALPL"	"OMIM:241510"	"Hypophosphatasia, childhood"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:37:10"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC14"	"2021-04-01"
"GENCC_000107-HGNC_465-OMIM_261550-HP_0000007-GENCC_100001"	"HGNC:465"	"AMHR2"	"MONDO:0009857"	"persistent Mullerian duct syndrome"	"OMIM:261550"	"Persistent Mullerian duct syndrome, type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:465"	"AMHR2"	"OMIM:261550"	"Persistent Mullerian duct syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:10"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC15"	"2021-04-01"
"GENCC_000107-HGNC_492-OMIM_182900-HP_0000006-GENCC_100002"	"HGNC:492"	"ANK1"	"MONDO:0008447"	"hereditary spherocytosis type 1"	"OMIM:182900"	"Spherocytosis, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:492"	"ANK1"	"OMIM:182900"	"Spherocytosis, type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-16 13:37:10"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC16"	"2021-04-01"
"GENCC_000107-HGNC_644-OMIM_300068-HP_0001417-GENCC_100002"	"HGNC:644"	"AR"	"MONDO:0019154"	"androgen insensitivity syndrome"	"OMIM:300068"	"Androgen insensitivity"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:644"	"AR"	"OMIM:300068"	"Androgen insensitivity"	"HP:0001417"	"X-linked inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:10"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC17"	"2021-04-01"
"GENCC_000107-HGNC_18318-OMIM_605039-HP_0000006-GENCC_100002"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"OMIM:605039"	"Bohring-Opitz syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18318"	"ASXL1"	"OMIM:605039"	"Bohring-Opitz syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-07-03 13:37:11"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC20"	"2021-04-01"
"GENCC_000107-HGNC_795-OMIM_208900-HP_0000007-GENCC_100001"	"HGNC:795"	"ATM"	"MONDO:0008840"	"ataxia telangiectasia"	"OMIM:208900"	"Ataxia-telangiectasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:795"	"ATM"	"OMIM:208900"	"Ataxia-telangiectasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:11"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC21"	"2021-04-01"
"GENCC_000107-HGNC_3706-OMIM_211600-HP_0000007-GENCC_100001"	"HGNC:3706"	"ATP8B1"	"MONDO:0008892"	"progressive familial intrahepatic cholestasis type 1"	"OMIM:211600"	"Cholestasis, progressive familial intrahepatic 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3706"	"ATP8B1"	"OMIM:211600"	"Cholestasis, progressive familial intrahepatic 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:12"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC23"	"2021-04-01"
"GENCC_000107-HGNC_7106-OMIM_109150-HP_0000006-GENCC_100001"	"HGNC:7106"	"ATXN3"	"MONDO:0007182"	"Machado-Joseph disease"	"OMIM:109150"	"Machado-Joseph disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7106"	"ATXN3"	"OMIM:109150"	"Machado-Joseph disease, spinocerebellar ataxia type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:12"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC24"	"2021-04-01"
"GENCC_000107-HGNC_11391-MONDO_0009461-HP_0000007-GENCC_100002"	"HGNC:11391"	"AURKC"	"MONDO:0009461"	"spermatogenic failure 5"	"MONDO:0009461"	"spermatogenic failure 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11391"	"AURKC"	"MONDO:0009461"	"Male infertility due to macrozoospermia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-04 13:37:12"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC25"	"2021-04-01"
"GENCC_000107-HGNC_932-OMIM_607748-HP_0000005-GENCC_100004"	"HGNC:932"	"BAAT"	"MONDO:0011905"	"familial hypercholanemia"	"OMIM:607748"	"Hypercholanemia, familial 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:932"	"BAAT"	"OMIM:607748"	"Hypercholanemia, familial"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-28 13:37:12"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC26"	"2021-04-01"
"GENCC_000107-HGNC_970-OMIM_615983-HP_0000007-GENCC_100002"	"HGNC:970"	"BBS5"	"MONDO:0014434"	"Bardet-Biedl syndrome 5"	"OMIM:615983"	"Bardet-Biedl syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:970"	"BBS5"	"OMIM:615983"	"Bardet-Biedl syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-07 13:37:12"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC27"	"2021-04-01"
"GENCC_000107-HGNC_983-MONDO_0015270-HP_0000007-GENCC_100001"	"HGNC:983"	"BCHE"	"MONDO:0015270"	"butyrylcholinesterase deficiency"	"MONDO:0015270"	"butyrylcholinesterase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:983"	"BCHE"	"MONDO:0015270"	"Butyrylcholinesterase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-07-03 13:37:12"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC28"	"2021-04-01"
"GENCC_000107-HGNC_1057-OMIM_613375-HP_0000005-GENCC_100004"	"HGNC:1057"	"BLK"	"MONDO:0013242"	"maturity-onset diabetes of the young type 11"	"OMIM:613375"	"Maturity-onset diabetes of the young, type 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1057"	"BLK"	"OMIM:613375"	"Maturity-onset diabetes of the young, type 11"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-16 13:37:13"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC29"	"2021-04-01"
"GENCC_000107-HGNC_1058-MONDO_0008876-HP_0000007-GENCC_100001"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"MONDO:0008876"	"Bloom syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-28 13:37:13"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC30"	"2021-04-01"
"GENCC_000107-HGNC_1071-OMIM_607932-HP_0000006-GENCC_100003"	"HGNC:1071"	"BMP4"	"MONDO:0011936"	"microphthalmia with brain and digit anomalies"	"OMIM:607932"	"Microphthalmia, syndromic 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1071"	"BMP4"	"OMIM:607932"	"Microphthalmia, syndromic 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-04-21 13:37:13"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC31"	"2021-04-01"
"GENCC_000107-HGNC_1078-OMIM_178600-HP_0000006-GENCC_100001"	"HGNC:1078"	"BMPR2"	"MONDO:0024533"	"pulmonary hypertension, primary, 1"	"OMIM:178600"	"Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1078"	"BMPR2"	"OMIM:178600"	"Pulmonary hypertension, familial primary, 1, with or without HHT"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:37:13"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC32"	"2021-04-01"
"GENCC_000107-HGNC_1318-OMIM_613779-HP_0000007-GENCC_100001"	"HGNC:1318"	"C3"	"MONDO:0013417"	"complement component 3 deficiency"	"OMIM:613779"	"C3 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1318"	"C3"	"OMIM:613779"	"C3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:14"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC33"	"2021-04-01"
"GENCC_000107-HGNC_1358-OMIM_613825-HP_0000005-GENCC_100003"	"HGNC:1358"	"C9"	"MONDO:0013445"	"complement component 9 deficiency"	"OMIM:613825"	"C9 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1358"	"C9"	"OMIM:613825"	"C9 deficiency"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-05-15 13:37:14"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC34"	"2021-04-01"
"GENCC_000107-HGNC_20202-OMIM_610478-HP_0000007-GENCC_100003"	"HGNC:20202"	"CACNA2D4"	"MONDO:0012507"	"retinal cone dystrophy 4"	"OMIM:610478"	"Retinal cone dystrophy 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:20202"	"CACNA2D4"	"OMIM:610478"	"Retinal cone dystrophy 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-04-14 13:37:15"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC35"	"2021-04-01"
"GENCC_000107-HGNC_1402-OMIM_611876-HP_0000006-GENCC_100004"	"HGNC:1402"	"CACNB2"	"MONDO:0012743"	"Brugada syndrome 4"	"OMIM:611876"	"Brugada syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1402"	"CACNB2"	"OMIM:611876"	"Brugada syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-22 13:37:15"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC36"	"2021-04-01"
"GENCC_000107-HGNC_25695-OMIM_616672-HP_0000007-GENCC_100003"	"HGNC:25695"	"CARS2"	"MONDO:0014728"	"combined oxidative phosphorylation defect type 27"	"OMIM:616672"	"Combined oxidative phosphorylation deficiency 27"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:25695"	"CARS2"	"OMIM:616672"	"Combined oxidative phosphorylation deficiency 27"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-01 13:37:15"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC37"	"2021-04-01"
"GENCC_000107-HGNC_28178-OMIM_616828-HP_0000007-GENCC_100002"	"HGNC:28178"	"VMA22"	"MONDO:0014789"	"CCDC115-CDG"	"OMIM:616828"	"Congenital disorder of glycosylation, type IIo"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:28178"	"CCDC115"	"OMIM:616828"	"Congenital disorder of glycosylation, type Iio"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:16"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC38"	"2021-04-01"
"GENCC_000107-HGNC_26090-OMIM_613808-HP_0000007-GENCC_100002"	"HGNC:26090"	"CCDC40"	"MONDO:0013435"	"primary ciliary dyskinesia 15"	"OMIM:613808"	"Ciliary dyskinesia, primary, 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:26090"	"CCDC40"	"OMIM:613808"	"Ciliary dyskinesia, primary, 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-19 13:37:16"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC39"	"2021-04-01"
"GENCC_000107-HGNC_16692-OMIM_613646-HP_0000005-GENCC_100004"	"HGNC:16692"	"CD320"	"MONDO:0013341"	"methylmalonic acidemia due to transcobalamin receptor defect"	"OMIM:613646"	"Methylmalonic aciduria, transient, due to transcobalamin receptor defect"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:16692"	"CD320"	"OMIM:613646"	"Methylmalonic aciduria due to transcobalamin receptor defect"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-06-01 13:37:16"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC40"	"2021-04-01"
"GENCC_000107-HGNC_1663-OMIM_608404-HP_0000007-GENCC_100002"	"HGNC:1663"	"CD36"	"MONDO:0012031"	"platelet-type bleeding disorder 10"	"OMIM:608404"	"Platelet glycoprotein IV deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1663"	"CD36"	"OMIM:608404"	"Platelet glycoprotein IV deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-15 13:37:16"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC41"	"2021-04-01"
"GENCC_000107-HGNC_6953-OMIM_612922-HP_0000006-GENCC_100002"	"HGNC:6953"	"CD46"	"MONDO:0013040"	"atypical hemolytic-uremic syndrome with MCP/CD46 anomaly"	"OMIM:612922"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6953"	"CD46"	"OMIM:612922"	"Hemolytic uremic syndrome, atypical, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-07 13:37:16"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC42"	"2021-04-01"
"GENCC_000107-HGNC_1848-OMIM_609812-HP_0000006-GENCC_100003"	"HGNC:1848"	"CEL"	"MONDO:0012348"	"maturity-onset diabetes of the young type 8"	"OMIM:609812"	"Maturity-onset diabetes of the young, type VIII"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1848"	"CEL"	"OMIM:609812"	"Maturity-onset diabetes of the young, type VIII"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-04-22 13:37:16"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC43"	"2021-04-01"
"GENCC_000107-HGNC_29182-OMIM_614845-HP_0000007-GENCC_100002"	"HGNC:29182"	"CEP164"	"MONDO:0013917"	"nephronophthisis 15"	"OMIM:614845"	"Nephronophthisis 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:29182"	"CEP164"	"OMIM:614845"	"Nephronophthisis 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:37:17"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC44"	"2021-04-01"
"GENCC_000107-HGNC_1884-OMIM_219700-HP_0000007-GENCC_100001"	"HGNC:1884"	"CFTR"	"MONDO:0009061"	"cystic fibrosis"	"OMIM:219700"	"{Cystic fibrosis lung disease, modifier of}"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1884"	"CFTR"	"OMIM:219700"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-15 13:37:17"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC45"	"2021-04-01"
"GENCC_000107-HGNC_1987-OMIM_614433-HP_0000006-GENCC_100003"	"HGNC:1987"	"CITED2"	"MONDO:0013750"	"atrial septal defect 8"	"OMIM:614433"	"Atrial septal defect 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1987"	"CITED2"	"OMIM:614433"	"Atrial septal defect 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-01 13:37:18"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC48"	"2021-04-01"
"GENCC_000107-HGNC_2077-OMIM_601780-HP_0000007-GENCC_100001"	"HGNC:2077"	"CLN6"	"MONDO:0011144"	"ceroid lipofuscinosis, neuronal, 6A"	"OMIM:601780"	"Ceroid lipofuscinosis, neuronal, 6A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2077"	"CLN6"	"OMIM:601780"	"Ceroid lipofuscinosis, neuronal"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:37:18"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC49"	"2021-04-01"
"GENCC_000107-HGNC_14857-OMIM_613612-HP_0000007-GENCC_100002"	"HGNC:14857"	"COG5"	"MONDO:0013325"	"COG5-congenital disorder of glycosylation"	"OMIM:613612"	"Congenital disorder of glycosylation, type IIi"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:14857"	"COG5"	"OMIM:613612"	"Congenital disorder of glycosylation, type Iii"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-22 13:37:18"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC50"	"2021-04-01"
"GENCC_000107-HGNC_2195-OMIM_267750-HP_0000007-GENCC_100002"	"HGNC:2195"	"COL18A1"	"MONDO:0009977"	"Knobloch syndrome"	"OMIM:267750"	"Knobloch syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2195"	"COL18A1"	"OMIM:267750"	"Knobloch syndrome, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-04 13:37:18"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC51"	"2021-04-01"
"GENCC_000107-HGNC_2201-OMIM_130050-HP_0000006-GENCC_100001"	"HGNC:2201"	"COL3A1"	"MONDO:0007524"	"autosomal dominant Ehlers-Danlos syndrome, vascular type"	"OMIM:130050"	"Ehlers-Danlos syndrome, vascular type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2201"	"COL3A1"	"OMIM:130050"	"Ehlers-Danlos syndrome, type IV"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:18"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC52"	"2021-04-01"
"GENCC_000107-HGNC_2204-OMIM_203780-HP_0000007-GENCC_100002"	"HGNC:2204"	"COL4A3"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"OMIM:203780"	"Alport syndrome 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2204"	"COL4A3"	"OMIM:203780"	"Alport syndrome, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-15 13:37:18"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC53"	"2021-04-01"
"GENCC_000107-HGNC_25801-OMIM_614615-HP_0000007-GENCC_100001"	"HGNC:25801"	"CPLANE1"	"MONDO:0013824"	"Joubert syndrome 17"	"OMIM:614615"	"Joubert syndrome 17"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:25801"	"CPLANE1"	"OMIM:614615"	"Joubert syndrome 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-07-07 13:37:19"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC54"	"2021-04-01"
"GENCC_000107-HGNC_2343-OMIM_613835-HP_0000007-GENCC_100002"	"HGNC:2343"	"CRB1"	"MONDO:0013453"	"Leber congenital amaurosis 8"	"OMIM:613835"	"Leber congenital amaurosis 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2343"	"CRB1"	"OMIM:613835"	"Leber congenital amaurosis 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:19"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC55"	"2021-04-01"
"GENCC_000107-HGNC_2398-OMIM_601547-HP_0000006-GENCC_100002"	"HGNC:2398"	"CRYBB2"	"MONDO:0011104"	"cataract 3 multiple types"	"OMIM:601547"	"Cataract 3, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2398"	"CRYBB2"	"OMIM:601547"	"Cataract 3, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-22 13:37:19"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC56"	"2021-04-01"
"GENCC_000107-HGNC_2548-OMIM_261100-HP_0000007-GENCC_100001"	"HGNC:2548"	"CUBN"	"MONDO:0100156"	"Imerslund-Grasbeck syndrome type 1"	"OMIM:261100"	"Imerslund-Grasbeck syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2548"	"CUBN"	"OMIM:261100"	"Imerslund-Grasbeck syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:37:19"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC57"	"2021-04-01"
"GENCC_000107-HGNC_2597-OMIM_231300-HP_0000007-GENCC_100001"	"HGNC:2597"	"CYP1B1"	"MONDO:0009277"	"glaucoma 3A"	"OMIM:231300"	"Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2597"	"CYP1B1"	"OMIM:231300"	"Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-15 13:37:19"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC59"	"2021-04-01"
"GENCC_000107-HGNC_2600-OMIM_201910-HP_0000007-GENCC_100001"	"HGNC:2600"	"CYP21A2"	"MONDO:0008728"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"	"OMIM:201910"	"Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2600"	"CYP21A2"	"OMIM:201910"	"Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:19"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC60"	"2021-04-01"
"GENCC_000107-HGNC_2602-OMIM_143880-HP_0000007-GENCC_100002"	"HGNC:2602"	"CYP24A1"	"MONDO:0020739"	"hypercalcemia, infantile, 1"	"OMIM:143880"	"Hypercalcemia, infantile, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2602"	"CYP24A1"	"OMIM:143880"	"Hypercalcemia, infantile"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-22 13:37:20"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC61"	"2021-04-01"
"GENCC_000107-HGNC_23198-OMIM_210370-HP_0000007-GENCC_100002"	"HGNC:23198"	"CYP4V2"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"OMIM:210370"	"Bietti crystalline corneoretinal dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:23198"	"CYP4V2"	"OMIM:210370"	"Bietti crystalline corneoretinal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-14 13:37:21"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC62"	"2021-04-01"
"GENCC_000107-HGNC_18423-OMIM_604364-HP_0000006-GENCC_100001"	"HGNC:18423"	"DEPDC5"	"MONDO:0024556"	"epilepsy, familial focal, with variable foci 1"	"OMIM:604364"	"Epilepsy, familial focal, with variable foci 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18423"	"DEPDC5"	"OMIM:604364"	"Epilepsy, familial focal, with variable foci"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:21"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC64"	"2021-04-01"
"GENCC_000107-HGNC_2860-OMIM_270400-HP_0000007-GENCC_100001"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"OMIM:270400"	"Smith-Lemli-Opitz syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2860"	"DHCR7"	"OMIM:270400"	"Smith-Lemli-Opitz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:37:21"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC66"	"2021-04-01"
"GENCC_000107-HGNC_2908-OMIM_618709-HP_0000006-GENCC_100003"	"HGNC:2908"	"DLL1"	"MONDO:0032877"	"neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"OMIM:618709"	"Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2908"	"DLL1"	"OMIM:618709"	"Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-04-15 13:37:21"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC67"	"2021-04-01"
"GENCC_000107-HGNC_2938-OMIM_617605-HP_0000006-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0033258"	"hearing loss, autosomal dominant 71"	"OMIM:617605"	"?Deafness, autosomal dominant 71"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2938"	"DMXL2"	"OMIM:617605"	"Deafness, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-19 13:37:21"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC68"	"2021-04-01"
"GENCC_000107-HGNC_2938-OMIM_618663-HP_0000007-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0032858"	"developmental and epileptic encephalopathy, 81"	"OMIM:618663"	"Developmental and epileptic encephalopathy 81"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2938"	"DMXL2"	"OMIM:618663"	"Developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-19 13:37:21"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC69"	"2021-04-01"
"GENCC_000107-HGNC_2942-OMIM_611884-HP_0000007-GENCC_100001"	"HGNC:2942"	"DNAH11"	"MONDO:0012748"	"primary ciliary dyskinesia 7"	"OMIM:611884"	"Ciliary dyskinesia, primary, 7, with or without situs inversus"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2942"	"DNAH11"	"OMIM:611884"	"Ciliary dyskinesia, primary, 7, with or without situs inversus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:22"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC70"	"2021-04-01"
"GENCC_000107-HGNC_3048-OMIM_615508-HP_0000006-GENCC_100001"	"HGNC:3048"	"DSG1"	"MONDO:0014218"	"severe dermatitis-multiple allergies-metabolic wasting syndrome"	"OMIM:615508"	"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3048"	"DSG1"	"OMIM:615508"	"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:22"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC71"	"2021-04-01"
"GENCC_000107-HGNC_13273-OMIM_607200-HP_0000007-GENCC_100001"	"HGNC:13273"	"DUOX2"	"MONDO:0011792"	"thyroid dyshormonogenesis 6"	"OMIM:607200"	"Thyroid dyshormonogenesis 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:13273"	"DUOX2"	"OMIM:607200"	"Thryoid dyshormonogenesis 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:22"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC72"	"2021-04-01"
"GENCC_000107-HGNC_21862-OMIM_615503-HP_0000007-GENCC_100002"	"HGNC:21862"	"DYNC2I1"	"MONDO:0014214"	"short-rib thoracic dysplasia 8 with or without polydactyly"	"OMIM:615503"	"Short-rib thoracic dysplasia 8 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:21862"	"DYNC2I1"	"OMIM:615503"	"Short-rib thoracic dysplasia 8 with or without polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-28 13:37:22"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC73"	"2021-04-01"
"GENCC_000107-HGNC_28296-OMIM_615633-HP_0000007-GENCC_100003"	"HGNC:28296"	"DYNC2I2"	"MONDO:0014287"	"short-rib thoracic dysplasia 11 with or without polydactyly"	"OMIM:615633"	"Short-rib thoracic dysplasia 11 with or without polydactyly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:28296"	"DYNC2I2"	"OMIM:615633"	"Short-rib thoracic dysplasia 11 with or without polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-15 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC74"	"2021-04-01"
"GENCC_000107-HGNC_3153-OMIM_247100-HP_0000007-GENCC_100002"	"HGNC:3153"	"ECM1"	"MONDO:0009530"	"lipoid proteinosis"	"OMIM:247100"	"Urbach-Wiethe disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3153"	"ECM1"	"OMIM:247100"	"Urbach-Wiethe disease, 247100 (3)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-07 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC75"	"2021-04-01"
"GENCC_000107-HGNC_3374-OMIM_611783-HP_0000006-GENCC_100003"	"HGNC:3374"	"EPAS1"	"MONDO:0012729"	"erythrocytosis, familial, 4"	"OMIM:611783"	"Erythrocytosis, familial, 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3374"	"EPAS1"	"OMIM:611783"	"Erythrocytosis, familial, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-05-14 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC76"	"2021-04-01"
"GENCC_000107-HGNC_3434-OMIM_278730-HP_0000007-GENCC_100001"	"HGNC:3434"	"ERCC2"	"MONDO:0010212"	"xeroderma pigmentosum group D"	"OMIM:278730"	"Xeroderma pigmentosum, group D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3434"	"ERCC2"	"OMIM:278730"	"Xeroderma pigmentosum, group D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC77"	"2021-04-01"
"GENCC_000107-HGNC_3439-OMIM_216400-HP_0000007-GENCC_100001"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"OMIM:216400"	"Cockayne syndrome, type A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3439"	"ERCC8"	"OMIM:216400"	"Cockayne syndrome, type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-07-03 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC78"	"2021-04-01"
"GENCC_000107-HGNC_19747-OMIM_225500-HP_0000007-GENCC_100001"	"HGNC:19747"	"EVC2"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"OMIM:225500"	"Ellis-van Creveld syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:19747"	"EVC2"	"OMIM:225500"	"Ellis-van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-15 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC79"	"2021-04-01"
"GENCC_000107-HGNC_21555-OMIM_602772-HP_0000007-GENCC_100001"	"HGNC:21555"	"EYS"	"MONDO:0011272"	"retinitis pigmentosa 25"	"OMIM:602772"	"Retinitis pigmentosa 25"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:21555"	"EYS"	"OMIM:602772"	"Retinitis pigmentosa 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-25 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC80"	"2021-04-01"
"GENCC_000107-HGNC_3531-OMIM_613225-HP_0000007-GENCC_100001"	"HGNC:3531"	"F13A1"	"MONDO:0013187"	"factor XIII, A subunit, deficiency of"	"OMIM:613225"	"Factor XIIIA deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3531"	"F13A1"	"OMIM:613225"	"Factor XIIIA deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC81"	"2021-04-01"
"GENCC_000107-HGNC_3535-OMIM_613679-HP_0000007-GENCC_100002"	"HGNC:3535"	"F2"	"MONDO:0013361"	"congenital prothrombin deficiency"	"OMIM:613679"	"Dysprothrombinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3535"	"F2"	"OMIM:613679"	"Dysprothrombinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:37:23"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC82"	"2021-04-01"
"GENCC_000107-HGNC_3544-OMIM_227500-HP_0000007-GENCC_100001"	"HGNC:3544"	"F7"	"MONDO:0009211"	"congenital factor VII deficiency"	"OMIM:227500"	"Factor VII deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3544"	"F7"	"OMIM:227500"	"Factor VII deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-25 13:37:24"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC83"	"2021-04-01"
"GENCC_000107-HGNC_3579-OMIM_276700-HP_0000007-GENCC_100001"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"tyrosinemia type I"	"OMIM:276700"	"Tyrosinemia, type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3579"	"FAH"	"OMIM:276700"	"Tyrosinemia, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-21 13:37:24"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC84"	"2021-04-01"
"GENCC_000107-HGNC_24725-OMIM_127000-HP_0000006-GENCC_100003"	"HGNC:24725"	"FAM111A"	"MONDO:0007478"	"autosomal dominant Kenny-Caffey syndrome"	"OMIM:127000"	"Kenny-Caffey syndrome, type 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:24725"	"FAM111A"	"OMIM:127000"	"Kenny-Caffey syndrome, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-03-24 13:37:24"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC85"	"2021-04-01"
"GENCC_000107-HGNC_3582-OMIM_227650-HP_0000007-GENCC_100002"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"OMIM:227650"	"Fanconi anemia, complementation group A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3582"	"FANCA"	"OMIM:227650"	"Fanconi anemia, complementation group A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-19 13:37:24"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC86"	"2021-04-01"
"GENCC_000107-HGNC_20748-OMIM_614083-HP_0000007-GENCC_100002"	"HGNC:20748"	"FANCL"	"MONDO:0013566"	"Fanconi anemia complementation group L"	"OMIM:614083"	"Fanconi anemia, complementation group L"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:20748"	"FANCL"	"OMIM:614083"	"Fanconi anemia, complementation group L"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-15 13:37:24"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC87"	"2021-04-01"
"GENCC_000107-HGNC_3647-OMIM_177000-HP_0000007-GENCC_100001"	"HGNC:3647"	"FECH"	"MONDO:0008319"	"protoporphyria, erythropoietic, 1"	"OMIM:177000"	"Protoporphyria, erythropoietic, 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3647"	"FECH"	"OMIM:177000"	"Protoporphyria, erythropoietic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:25"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC89"	"2021-04-01"
"GENCC_000107-HGNC_16873-OMIM_611228-HP_0000007-GENCC_100001"	"HGNC:16873"	"FIG4"	"MONDO:0012640"	"Charcot-Marie-Tooth disease type 4J"	"OMIM:611228"	"Charcot-Marie-Tooth disease, type 4J"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:16873"	"FIG4"	"OMIM:611228"	"Charcot-Marie-Tooth disease, type 4J"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-04 13:37:25"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC90"	"2021-04-01"
"GENCC_000107-HGNC_18169-OMIM_610968-HP_0000007-GENCC_100002"	"HGNC:18169"	"FKBP10"	"MONDO:0012592"	"osteogenesis imperfecta type 11"	"OMIM:610968"	"Osteogenesis imperfecta, type XI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18169"	"FKBP10"	"OMIM:610968"	"Osteogenesis imperfecta, type XI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-22 13:37:25"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC91"	"2021-04-01"
"GENCC_000107-HGNC_17997-OMIM_607155-HP_0000007-GENCC_100001"	"HGNC:17997"	"FKRP"	"MONDO:0011787"	"autosomal recessive limb-girdle muscular dystrophy type 2I"	"OMIM:607155"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:17997"	"FKRP"	"OMIM:607155"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-19 13:37:25"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC92"	"2021-04-01"
"GENCC_000107-HGNC_3748-OMIM_146700-HP_0032113-GENCC_100001"	"HGNC:3748"	"FLG"	"MONDO:0007810"	"autosomal dominant ichthyosis vulgaris"	"OMIM:146700"	"Ichthyosis vulgaris"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3748"	"FLG"	"OMIM:146700"	"Ichthyosis vulgaris"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:25"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC93"	"2021-04-01"
"GENCC_000107-HGNC_20105-OMIM_225790-HP_0000007-GENCC_100002"	"HGNC:20105"	"FLVCR2"	"MONDO:0009168"	"Fowler syndrome"	"OMIM:225790"	"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:20105"	"FLVCR2"	"OMIM:225790"	"Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:37:25"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC94"	"2021-04-01"
"GENCC_000107-HGNC_3791-OMIM_613068-HP_0000007-GENCC_100001"	"HGNC:3791"	"FOLR1"	"MONDO:0013110"	"neurodegenerative syndrome due to cerebral folate transport deficiency"	"OMIM:613068"	"Neurodegeneration due to cerebral folate transport deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3791"	"FOLR1"	"OMIM:613068"	"Neurodegeneration due to cerebral folate transport deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-03-24 13:37:25"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC95"	"2021-04-01"
"GENCC_000107-HGNC_3806-OMIM_241850-HP_0000007-GENCC_100004"	"HGNC:3806"	"FOXE1"	"MONDO:0009437"	"Bamforth-Lazarus syndrome"	"OMIM:241850"	"Bamforth-Lazarus syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3806"	"FOXE1"	"OMIM:241850"	"Bamforth-Lazarus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-22 13:37:26"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC96"	"2021-04-01"
"GENCC_000107-HGNC_3814-MONDO_0019512-HP_0000005-GENCC_100004"	"HGNC:3814"	"FOXH1"	"MONDO:0019512"	"congenital heart malformation"	"MONDO:0019512"	"congenital heart malformation"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3814"	"FOXH1"	"MONDO:0019512"	"Congenital heart malformation"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-16 13:37:26"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC97"	"2021-04-01"
"GENCC_000107-HGNC_26927-OMIM_256000-HP_0000007-GENCC_100003"	"HGNC:26927"	"FOXRED1"	"MONDO:0009723"	"Leigh syndrome"	"OMIM:256000"	"OMIM:256000"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:26927"	"FOXRED1"	"OMIM:256000"	"Leigh syndrome due to mitochondrial complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-23 13:37:26"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC98"	"2021-04-01"
"GENCC_000107-HGNC_3974-OMIM_229100-HP_0000007-GENCC_100003"	"HGNC:3974"	"FTCD"	"MONDO:0009240"	"formiminoglutamic aciduria"	"OMIM:229100"	"Glutamate formiminotransferase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:3974"	"FTCD"	"OMIM:229100"	"Glutamate formiminotransferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-02 13:37:26"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC99"	"2021-04-01"
"GENCC_000107-HGNC_4065-OMIM_232300-HP_0000007-GENCC_100001"	"HGNC:4065"	"GAA"	"MONDO:0009290"	"glycogen storage disease II"	"OMIM:232300"	"Glycogen storage disease II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4065"	"GAA"	"OMIM:232300"	"Glycogen storage disease II, Pompe disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:26"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC101"	"2021-04-01"
"GENCC_000107-HGNC_4115-OMIM_245200-HP_0000007-GENCC_100001"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"OMIM:245200"	"Krabbe disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4115"	"GALC"	"OMIM:245200"	"Krabbe disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-23 13:37:26"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC102"	"2021-04-01"
"GENCC_000107-HGNC_4162-OMIM_600794-HP_0000006-GENCC_100001"	"HGNC:4162"	"GARS1"	"MONDO:0015353"	"neuronopathy, distal hereditary motor, type 5A"	"OMIM:600794"	"Neuronopathy, distal hereditary motor, autosomal dominant 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4162"	"GARS1"	"OMIM:600794"	"Neuronopathy, distal hereditary motor, type VA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:37:27"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC103"	"2021-04-01"
"GENCC_000107-HGNC_4177-OMIM_608013-HP_0000007-GENCC_100001"	"HGNC:4177"	"GBA1"	"MONDO:0011945"	"Gaucher disease perinatal lethal"	"OMIM:608013"	"Gaucher disease, perinatal lethal"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4177"	"GBA"	"OMIM:608013"	"Gaucher disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:27"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC104"	"2021-04-01"
"GENCC_000107-HGNC_4180-OMIM_232500-HP_0000007-GENCC_100001"	"HGNC:4180"	"GBE1"	"MONDO:0009292"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"OMIM:232500"	"Glycogen storage disease IV"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4180"	"GBE1"	"OMIM:232500"	"Glycogen storage disease IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:27"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC105"	"2021-04-01"
"GENCC_000107-HGNC_4266-OMIM_612781-HP_0000007-GENCC_100001"	"HGNC:4266"	"GHRHR"	"MONDO:0013006"	"isolated growth hormone deficiency type IB"	"OMIM:612781"	"Growth hormone deficiency, isolated, type IB"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4266"	"GHRHR"	"OMIM:612781"	"Growth hormone deficiency, isolated, type IB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:37:28"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC107"	"2021-04-01"
"GENCC_000107-HGNC_4284-OMIM_220290-HP_0000007-GENCC_100001"	"HGNC:4284"	"GJB2"	"MONDO:0009076"	"autosomal recessive nonsyndromic hearing loss 1A"	"OMIM:220290"	"Deafness, digenic GJB2/GJB6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4284"	"GJB2"	"OMIM:220290"	"Deafness, autosomal recessive 1A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:28"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC108"	"2021-04-01"
"GENCC_000107-HGNC_4319-OMIM_175700-HP_0000006-GENCC_100001"	"HGNC:4319"	"GLI3"	"MONDO:0008287"	"Greig cephalopolysyndactyly syndrome"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4319"	"GLI3"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-23 13:37:28"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC109"	"2021-04-01"
"GENCC_000107-HGNC_4319-OMIM_146510-HP_0000006-GENCC_100001"	"HGNC:4319"	"GLI3"	"MONDO:0007804"	"Pallister-Hall syndrome"	"OMIM:146510"	"Pallister-Hall syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4319"	"GLI3"	"OMIM:146510"	"Pallister-Hall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-14 13:37:28"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC110"	"2021-04-01"
"GENCC_000107-HGNC_4400-OMIM_617024-HP_0000007-GENCC_100004"	"HGNC:4400"	"GNB3"	"MONDO:0014872"	"congenital stationary night blindness 1H"	"OMIM:617024"	"Night blindness, congenital stationary, type 1H"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4400"	"GNB3"	"OMIM:617024"	"Night blindness, congenital stationary, type 1H"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-07 13:37:28"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC111"	"2021-04-01"
"GENCC_000107-HGNC_4598-OMIM_257270-HP_0000007-GENCC_100002"	"HGNC:4598"	"GRM6"	"MONDO:0009758"	"congenital stationary night blindness 1B"	"OMIM:257270"	"Night blindness, congenital stationary (complete), 1B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4598"	"GRM6"	"OMIM:257270"	"Night blindness, congenital stationary (complete), 1B, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:37:29"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC113"	"2021-04-01"
"GENCC_000107-HGNC_4688-OMIM_614616-HP_0000007-GENCC_100004"	"HGNC:4688"	"GUCY2C"	"MONDO:0013825"	"congenital diarrhea 6"	"OMIM:614616"	"Diarrhea 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4688"	"GUCY2C"	"OMIM:614616"	"Diarrhea 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-06-23 13:37:29"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC115"	"2021-04-01"
"GENCC_000107-HGNC_4886-OMIM_235200-HP_0000007-GENCC_100001"	"HGNC:4886"	"HFE"	"MONDO:0021001"	"hemochromatosis type 1"	"OMIM:235200"	"{HFE hemochromatosis, modifier of}"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:4886"	"HFE"	"OMIM:235200"	"Hemochromatosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-19 13:37:29"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC116"	"2021-04-01"
"GENCC_000107-HGNC_19194-OMIM_603075-HP_0000006-GENCC_100004"	"HGNC:19194"	"HMCN1"	"MONDO:0011285"	"age related macular degeneration 1"	"OMIM:603075"	"{?Macular degeneration, age-related}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:19194"	"HMCN1"	"OMIM:603075"	"Macular degeneration, age-related, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-03-24 13:37:30"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC117"	"2021-04-01"
"GENCC_000107-HGNC_11621-OMIM_612520-HP_0000006-GENCC_100001"	"HGNC:11621"	"HNF1A"	"MONDO:0012919"	"type 1 diabetes mellitus 20"	"OMIM:612520"	"Diabetes mellitus, insulin-dependent, 20"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11621"	"HNF1A"	"OMIM:612520"	"Diabetes mellitus, insulin-dependent, 20"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-21 13:37:30"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC118"	"2021-04-01"
"GENCC_000107-HGNC_5103-OMIM_612290-HP_0000006-GENCC_100003"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"?Microtia, hearing impairment, and cleft palate (AR)"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"Microtia with or without hearing impairment"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-01 13:37:30"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC119"	"2021-04-01"
"GENCC_000107-HGNC_5136-OMIM_610713-HP_0000006-GENCC_100002"	"HGNC:5136"	"HOXD13"	"MONDO:0012544"	"brachydactyly-syndactyly syndrome"	"OMIM:610713"	"?Brachydactyly-syndactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:5136"	"HOXD13"	"OMIM:610713"	"Brachydactyly-syndactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:30"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC120"	"2021-04-01"
"GENCC_000107-HGNC_5201-OMIM_614880-HP_0000005-GENCC_100004"	"HGNC:5201"	"HS6ST1"	"MONDO:0013946"	"hypogonadotropic hypogonadism 15 with or without anosmia"	"OMIM:614880"	"{Hypogonadotropic hypogonadism 15 with or without anosmia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:5201"	"HS6ST1"	"OMIM:614880"	"Hypogonadotropic hypogonadism 15 with or without anosmia"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-14 13:37:30"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC121"	"2021-04-01"
"GENCC_000107-HGNC_5542-OMIM_616155-HP_0000007-GENCC_100001"	"HGNC:5542"	"IGHMBP2"	"MONDO:0014511"	"Charcot-Marie-Tooth disease axonal type 2S"	"OMIM:616155"	"Charcot-Marie-Tooth disease, axonal, type 2S"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:5542"	"IGHMBP2"	"OMIM:616155"	"Charcot-Marie-Tooth disease, axonal, type 2S"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:30"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC122"	"2021-04-01"
"GENCC_000107-HGNC_6055-OMIM_616151-HP_0000006-GENCC_100003"	"HGNC:6055"	"IMPG1"	"MONDO:0014508"	"vitelliform macular dystrophy 4"	"OMIM:616151"	"Macular dystrophy, vitelliform, 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6055"	"IMPG1"	"OMIM:616151"	"Macular dystrophy, vitelliform, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-16 13:37:31"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC123"	"2021-04-01"
"GENCC_000107-HGNC_29171-OMIM_617642-HP_0000007-GENCC_100004"	"HGNC:29171"	"IQCE"	"MONDO:0060550"	"polydactyly, postaxial, type a7"	"OMIM:617642"	"Polydactyly, postaxial, type A7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:29171"	"IQCE"	"OMIM:617642"	"Polydactyly, postaxial, type A7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-03-24 13:37:31"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC124"	"2021-04-01"
"GENCC_000107-HGNC_5358-OMIM_226990-HP_0000007-GENCC_100003"	"HGNC:5358"	"IRF8"	"MONDO:0009194"	"immunodeficiency 32B"	"OMIM:226990"	"Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:5358"	"IRF8"	"OMIM:226990"	"Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-01 13:37:32"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC125"	"2021-04-01"
"GENCC_000107-HGNC_6155-OMIM_116920-HP_0000007-GENCC_100002"	"HGNC:6155"	"ITGB2"	"MONDO:0007293"	"leukocyte adhesion deficiency 1"	"OMIM:116920"	"Leukocyte adhesion deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6155"	"ITGB2"	"OMIM:116920"	"Leukocyte adhesion deficiency, 116920 (3)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:32"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC126"	"2021-04-01"
"GENCC_000107-HGNC_6193-OMIM_600802-HP_0000007-GENCC_100001"	"HGNC:6193"	"JAK3"	"MONDO:0010938"	"T-B+ severe combined immunodeficiency due to JAK3 deficiency"	"OMIM:600802"	"Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6193"	"JAK3"	"OMIM:600802"	"SCID, autosomal recessive, T-negative/B-positive type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:37:32"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC127"	"2021-04-01"
"GENCC_000107-HGNC_6243-OMIM_613119-HP_0000005-GENCC_100005"	"HGNC:6243"	"KCNE3"	"MONDO:0013145"	"Brugada syndrome 6"	"OMIM:613119"	"?Brugada syndrome 6"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6243"	"KCNE3"	"OMIM:613119"	"Brugada syndrome 6"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100005"	"Disputed Evidence"	"2020-06-01 13:37:32"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC128"	"2021-04-01"
"GENCC_000107-HGNC_19439-OMIM_613656-HP_0000005-GENCC_100004"	"HGNC:19439"	"KCNK18"	"MONDO:0013344"	"migraine, with or without aura, susceptibility to, 13"	"OMIM:613656"	"{Migraine, with or without aura, susceptibility to, 13}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:19439"	"KCNK18"	"OMIM:613656"	"Migraine, with or without aura, susceptibility to, 13"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-14 13:37:32"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC129"	"2021-04-01"
"GENCC_000107-HGNC_19349-OMIM_135700-HP_0000006-GENCC_100002"	"HGNC:19349"	"KIF21A"	"MONDO:0021083"	"congenital fibrosis of extraocular muscles type 1"	"OMIM:135700"	"Fibrosis of extraocular muscles, congenital, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:19349"	"KIF21A"	"OMIM:135700"	"Fibrosis of extraocular muscles, congenital, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-15 13:37:32"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC131"	"2021-04-01"
"GENCC_000107-HGNC_7133-OMIM_147920-HP_0000006-GENCC_100001"	"HGNC:7133"	"KMT2D"	"MONDO:0007843"	"Kabuki syndrome 1"	"OMIM:147920"	"Kabuki syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7133"	"KMT2D"	"OMIM:147920"	"Kabuki syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:37:32"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC132"	"2021-04-01"
"GENCC_000107-HGNC_6446-OMIM_215600-HP_0000005-GENCC_100004"	"HGNC:6446"	"KRT8"	"MONDO:0007329"	"cirrhosis, familial"	"OMIM:215600"	"{Cirrhosis, noncryptogenic, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6446"	"KRT8"	"OMIM:215600"	"Cirrhosis, cryptogenic"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-22 13:37:33"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC133"	"2021-04-01"
"GENCC_000107-HGNC_6463-OMIM_158000-HP_0000006-GENCC_100003"	"HGNC:6463"	"KRT86"	"MONDO:0008009"	"monilethrix"	"OMIM:158000"	"Monilethrix"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6463"	"KRT86"	"OMIM:158000"	"Monilethrix"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-23 13:37:33"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC134"	"2021-04-01"
"GENCC_000107-HGNC_6469-OMIM_617661-HP_0000007-GENCC_100004"	"HGNC:6469"	"KYNU"	"MONDO:0060555"	"vertebral, cardiac, renal, and limb defects syndrome 2"	"OMIM:617661"	"Vertebral, cardiac, renal, and limb defects syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6469"	"KYNU"	"OMIM:617661"	"Vertebral, cardiac, renal, and limb defects syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-28 13:37:33"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC135"	"2021-04-01"
"GENCC_000107-HGNC_6490-OMIM_226700-HP_0000007-GENCC_100001"	"HGNC:6490"	"LAMB3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6490"	"LAMB3"	"OMIM:226700"	"Epidermolysis bullosa, junctional, Herlitz type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-25 13:37:33"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC136"	"2021-04-01"
"GENCC_000107-HGNC_6547-OMIM_143890-HP_0000006-GENCC_100001"	"HGNC:6547"	"LDLR"	"MONDO:0007750"	"hypercholesterolemia, familial, 1"	"OMIM:143890"	"Hypercholesterolemia, familial, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6547"	"LDLR"	"OMIM:143890"	"Hypercholesterolemia, familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:33"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC137"	"2021-04-01"
"GENCC_000107-HGNC_6619-OMIM_614025-HP_0000007-GENCC_100002"	"HGNC:6619"	"LIPC"	"MONDO:0013533"	"hyperlipidemia due to hepatic triglyceride lipase deficiency"	"OMIM:614025"	"Hepatic lipase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6619"	"LIPC"	"OMIM:614025"	"Hepatic lipase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-23 13:37:34"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC138"	"2021-04-01"
"GENCC_000107-HGNC_13345-OMIM_268200-HP_0000007-GENCC_100001"	"HGNC:13345"	"LPIN1"	"MONDO:0009992"	"myoglobinuria, acute recurrent, autosomal recessive"	"OMIM:268200"	"Myoglobinuria, acute recurrent, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:13345"	"LPIN1"	"OMIM:268200"	"Myoglobinuria, acute recurrent, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-22 13:37:34"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC139"	"2021-04-01"
"GENCC_000107-HGNC_6677-OMIM_238600-HP_0000007-GENCC_100001"	"HGNC:6677"	"LPL"	"MONDO:0009387"	"familial lipoprotein lipase deficiency"	"OMIM:238600"	"[High density lipoprotein cholesterol level QTL 11]"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6677"	"LPL"	"OMIM:238600"	"Lipoprotein lipase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-22 13:37:34"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC140"	"2021-04-01"
"GENCC_000107-HGNC_6697-OMIM_601813-HP_0000005-GENCC_100002"	"HGNC:6697"	"LRP5"	"MONDO:0011151"	"exudative vitreoretinopathy 4"	"OMIM:601813"	"Exudative vitreoretinopathy 4"	"GENCC:100002"	"Strong"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6697"	"LRP5"	"OMIM:601813"	"Exudative vitreoretinopathy 4"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-16 13:37:34"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC141"	"2021-04-01"
"GENCC_000107-HGNC_18618-OMIM_607060-HP_0000006-GENCC_100001"	"HGNC:18618"	"LRRK2"	"MONDO:0011764"	"autosomal dominant Parkinson disease 8"	"OMIM:607060"	"{Parkinson disease 8}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18618"	"LRRK2"	"OMIM:607060"	"Parkinson disease 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:34"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC142"	"2021-04-01"
"GENCC_000107-HGNC_6826-OMIM_248500-HP_0000007-GENCC_100002"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"alpha-mannosidosis"	"OMIM:248500"	"Mannosidosis, alpha-, types I and II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6826"	"MAN2B1"	"OMIM:248500"	"Mannosidosis, alpha-, types I and II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-19 13:37:34"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC143"	"2021-04-01"
"GENCC_000107-HGNC_6858-OMIM_613659-HP_0000005-GENCC_100004"	"HGNC:6858"	"MAP3K6"	"MONDO:0001056"	"gastric cancer"	"OMIM:613659"	"Gastric cancer, somatic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6858"	"MAP3K6"	"OMIM:613659"	"Gastric cancer"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-22 13:37:35"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC144"	"2021-04-01"
"GENCC_000107-HGNC_6902-OMIM_613791-HP_0000007-GENCC_100002"	"HGNC:6902"	"MASP2"	"MONDO:0013423"	"immunodeficiency due to MASP-2 deficiency"	"OMIM:613791"	"MASP2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6902"	"MASP2"	"OMIM:613791"	"MASP2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-20 13:37:35"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC145"	"2021-04-01"
"GENCC_000107-HGNC_15505-OMIM_617188-HP_0000007-GENCC_100002"	"HGNC:15505"	"MBOAT7"	"MONDO:0014962"	"intellectual disability, autosomal recessive 57"	"OMIM:617188"	"Intellectual developmental disorder, autosomal recessive 57"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:15505"	"MBOAT7"	"OMIM:617188"	"Intellectual disability, autosomal recessive 57"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:35"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC146"	"2021-04-01"
"GENCC_000107-HGNC_6932-OMIM_601665-HP_0000006-GENCC_100002"	"HGNC:6932"	"MC4R"	"MONDO:0019182"	"inherited obesity"	"OMIM:601665"	"{Obesity, late-onset}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:6932"	"MC4R"	"OMIM:601665"	"Obesity, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-14 13:37:36"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC148"	"2021-04-01"
"GENCC_000107-HGNC_1530-OMIM_615673-HP_0000007-GENCC_100002"	"HGNC:1530"	"MICU1"	"MONDO:0014300"	"proximal myopathy with extrapyramidal signs"	"OMIM:615673"	"Myopathy with extrapyramidal signs"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:1530"	"MICU1"	"OMIM:615673"	"Myopathy with extrapyramidal signs"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-16 13:37:36"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC149"	"2021-04-01"
"GENCC_000107-HGNC_7128-OMIM_614385-HP_0000006-GENCC_100003"	"HGNC:7128"	"MLH3"	"MONDO:0013725"	"colorectal cancer, hereditary nonpolyposis, type 7"	"OMIM:614385"	"Colorectal cancer, hereditary nonpolyposis, type 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7128"	"MLH3"	"OMIM:614385"	"Colorectal cancer, hereditary nonpolyposis, type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-05-28 13:37:37"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC151"	"2021-04-01"
"GENCC_000107-HGNC_7165-OMIM_611543-HP_0000005-GENCC_100004"	"HGNC:7165"	"MMP19"	"MONDO:0012687"	"familial cavitary optic disk anomaly"	"OMIM:611543"	"Cavitary optic disc anomalies"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7165"	"MMP19"	"OMIM:611543"	"Cavitary optic disc anomalies"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-03-24 13:37:37"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC152"	"2021-04-01"
"GENCC_000107-HGNC_7208-OMIM_615219-HP_0000007-GENCC_100003"	"HGNC:7208"	"MPDZ"	"MONDO:0014085"	"hydrocephalus, nonsyndromic, autosomal recessive 2"	"OMIM:615219"	"Hydrocephalus, congenital, 2, with or without brain or eye anomalies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7208"	"MPDZ"	"OMIM:615219"	"Hydrocephalus, nonsyndromic, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-02 13:37:37"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC153"	"2021-04-01"
"GENCC_000107-HGNC_7225-OMIM_118200-HP_0000006-GENCC_100001"	"HGNC:7225"	"MPZ"	"MONDO:0007307"	"Charcot-Marie-Tooth disease type 1B"	"OMIM:118200"	"Charcot-Marie-Tooth disease, type 1B"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7225"	"MPZ"	"OMIM:118200"	"Charcot-Marie-Tooth disease, type 1B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:37:38"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC154"	"2021-04-01"
"GENCC_000107-HGNC_7329-OMIM_614350-HP_0000006-GENCC_100001"	"HGNC:7329"	"MSH6"	"MONDO:0013710"	"Lynch syndrome 5"	"OMIM:614350"	"Lynch syndrome 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7329"	"MSH6"	"OMIM:614350"	"Colorectal cancer, hereditary nonpolyposis, type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:37:38"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC156"	"2021-04-01"
"GENCC_000107-HGNC_7329-OMIM_619097-HP_0000007-GENCC_100001"	"HGNC:7329"	"MSH6"	"MONDO:0030841"	"mismatch repair cancer syndrome 3"	"OMIM:619097"	"Mismatch repair cancer syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7329"	"MSH6"	"OMIM:619097"	"Mismatch repair cancer syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:37:38"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC157"	"2021-04-01"
"GENCC_000107-HGNC_7376-OMIM_614266-HP_0000005-GENCC_100004"	"HGNC:7376"	"MSR1"	"MONDO:0013662"	"Barrett esophagus"	"OMIM:614266"	"Barrett esophagus/esophageal adenocarcinoma"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7376"	"MSR1"	"OMIM:614266"	"Barrett esophagus/esophageal adenocarcinoma"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-06-01 13:37:39"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC158"	"2021-04-01"
"GENCC_000107-HGNC_30434-MONDO_0016333-HP_0000005-GENCC_100004"	"HGNC:30434"	"MYBPHL"	"MONDO:0016333"	"familial dilated cardiomyopathy"	"MONDO:0016333"	"familial dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:30434"	"MYBPHL"	"MONDO:0016333"	"Familial dilated cardiomyopathy"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-08 13:37:41"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC163"	"2021-04-01"
"GENCC_000107-HGNC_7559-OMIM_164280-HP_0000006-GENCC_100002"	"HGNC:7559"	"MYCN"	"MONDO:0008115"	"Feingold syndrome type 1"	"OMIM:164280"	"Feingold syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7559"	"MYCN"	"OMIM:164280"	"Feingold syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:37:41"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC164"	"2021-04-01"
"GENCC_000107-HGNC_7572-OMIM_605637-HP_0000007-GENCC_100002"	"HGNC:7572"	"MYH2"	"MONDO:0011577"	"myopathy, proximal, and ophthalmoplegia"	"OMIM:605637"	"Congenital myopathy 6 with ophthalmoplegia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7572"	"MYH2"	"OMIM:605637"	"Proximal myopathy and ophthalmoplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:41"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC166"	"2021-04-01"
"GENCC_000107-HGNC_7576-OMIM_613251-HP_0000006-GENCC_100004"	"HGNC:7576"	"MYH6"	"MONDO:0013197"	"hypertrophic cardiomyopathy 14"	"OMIM:613251"	"Cardiomyopathy, hypertrophic, 14"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7576"	"MYH6"	"OMIM:613251"	"Cardiomyopathy, hypertrophic, 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-06-01 13:37:42"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC167"	"2021-04-01"
"GENCC_000107-HGNC_7608-OMIM_618198-HP_0000007-GENCC_100004"	"HGNC:7608"	"MYO9A"	"MONDO:0032597"	"myasthenic syndrome, congenital, 24, presynaptic"	"OMIM:618198"	"Myasthenic syndrome, congenital, 24, presynaptic"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7608"	"MYO9A"	"OMIM:618198"	"Myasthenic syndrome, congenital, 24, presynaptic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-06-01 13:37:42"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC168"	"2021-04-01"
"GENCC_000107-HGNC_17619-OMIM_614019-HP_0000007-GENCC_100002"	"HGNC:17619"	"NDE1"	"MONDO:0013527"	"lissencephaly 4"	"OMIM:614019"	"Lissencephaly 4 (with microcephaly)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:17619"	"NDE1"	"OMIM:614019"	"Lissencephaly 4 (with microcephaly)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-02 13:37:42"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC169"	"2021-04-01"
"GENCC_000107-HGNC_2488-OMIM_108900-HP_0000006-GENCC_100002"	"HGNC:2488"	"NKX2-5"	"MONDO:0007173"	"atrial septal defect 7"	"OMIM:108900"	"Atrial septal defect 7, with or without AV conduction defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2488"	"NKX2-5"	"OMIM:108900"	"Atrial septal defect 7, with or without AV conduction defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-14 13:37:42"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC171"	"2021-04-01"
"GENCC_000107-HGNC_22938-OMIM_611762-HP_0000006-GENCC_100002"	"HGNC:22938"	"NLRP12"	"MONDO:0012724"	"familial cold autoinflammatory syndrome 2"	"OMIM:611762"	"Familial cold autoinflammatory syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:22938"	"NLRP12"	"OMIM:611762"	"Familial cold autoinflammatory syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-20 13:37:42"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC172"	"2021-04-01"
"GENCC_000107-HGNC_7881-OMIM_616028-HP_0000006-GENCC_100001"	"HGNC:7881"	"NOTCH1"	"MONDO:0014459"	"Adams-Oliver syndrome 5"	"OMIM:616028"	"Adams-Oliver syndrome 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7881"	"NOTCH1"	"OMIM:616028"	"Adams-Oliver syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:42"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC173"	"2021-04-01"
"GENCC_000107-HGNC_7883-OMIM_125310-HP_0000006-GENCC_100001"	"HGNC:7883"	"NOTCH3"	"MONDO:0000914"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"	"OMIM:125310"	"Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7883"	"NOTCH3"	"OMIM:125310"	"Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:42"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC174"	"2021-04-01"
"GENCC_000107-HGNC_7897-OMIM_257220-HP_0000007-GENCC_100001"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"OMIM:257220"	"Niemann-Pick disease, type D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7897"	"NPC1"	"OMIM:257220"	"Niemann-Pick disease, type C1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:43"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC175"	"2021-04-01"
"GENCC_000107-HGNC_14537-OMIM_607625-HP_0000007-GENCC_100001"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"OMIM:607625"	"Niemann-pick disease, type C2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:14537"	"NPC2"	"OMIM:607625"	"Niemann-pick disease, type C2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-18 13:37:43"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC176"	"2021-04-01"
"GENCC_000107-HGNC_7974-OMIM_268100-HP_0000007-GENCC_100002"	"HGNC:7974"	"NR2E3"	"MONDO:0100288"	"enhanced S-cone syndrome"	"OMIM:268100"	"Enhanced S-cone syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7974"	"NR2E3"	"OMIM:268100"	"Enhanced S-cone syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-07-16 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC178"	"2021-04-01"
"GENCC_000107-HGNC_7978-OMIM_615962-HP_0000006-GENCC_100002"	"HGNC:7978"	"NR3C1"	"MONDO:0014421"	"glucocorticoid resistance"	"OMIM:615962"	"Glucocorticoid resistance"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:7978"	"NR3C1"	"OMIM:615962"	"Glucocorticoid resistance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-22 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC179"	"2021-04-01"
"GENCC_000107-HGNC_8022-OMIM_613162-HP_0000007-GENCC_100003"	"HGNC:8022"	"NT5C2"	"MONDO:0013165"	"hereditary spastic paraplegia 45"	"OMIM:613162"	"Spastic paraplegia 45, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8022"	"NT5C2"	"OMIM:613162"	"Spastic paraplegia 45, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-23 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC180"	"2021-04-01"
"GENCC_000107-HGNC_28958-OMIM_616892-HP_0000007-GENCC_100002"	"HGNC:28958"	"NUP93"	"MONDO:0014817"	"nephrotic syndrome, type 12"	"OMIM:616892"	"Nephrotic syndrome, type 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:28958"	"NUP93"	"OMIM:616892"	"Nephrotic syndrome, type 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC181"	"2021-04-01"
"GENCC_000107-HGNC_25179-MONDO_0018998-HP_0000005-GENCC_100004"	"HGNC:25179"	"NXNL1"	"MONDO:0018998"	"Leber congenital amaurosis"	"MONDO:0018998"	"Leber congenital amaurosis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:25179"	"NXNL1"	"MONDO:0018998"	"Leber congenital amaurosis"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-22 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC182"	"2021-04-01"
"GENCC_000107-HGNC_8108-OMIM_300555-HP_0001417-GENCC_100002"	"HGNC:8108"	"OCRL"	"MONDO:0010359"	"Dent disease type 2"	"OMIM:300555"	"Dent disease 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8108"	"OCRL"	"OMIM:300555"	"Dent disease 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-15 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC183"	"2021-04-01"
"GENCC_000107-HGNC_8108-OMIM_309000-HP_0001417-GENCC_100001"	"HGNC:8108"	"OCRL"	"MONDO:0010645"	"oculocerebrorenal syndrome"	"OMIM:309000"	"Lowe syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8108"	"OCRL"	"OMIM:309000"	"Lowe syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-15 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC184"	"2021-04-01"
"GENCC_000107-HGNC_17142-OMIM_613435-HP_0000007-GENCC_100002"	"HGNC:17142"	"OPTN"	"MONDO:0013264"	"amyotrophic lateral sclerosis type 12"	"OMIM:613435"	"Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:17142"	"OPTN"	"OMIM:613435"	"Amyotrophic lateral sclerosis 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-15 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC185"	"2021-04-01"
"GENCC_000107-HGNC_8512-OMIM_311250-HP_0001417-GENCC_100001"	"HGNC:8512"	"OTC"	"MONDO:0010703"	"ornithine carbamoyltransferase deficiency"	"OMIM:311250"	"Ornithine transcarbamylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8512"	"OTC"	"OMIM:311250"	"Ornithine transcarbamylase deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-15 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC186"	"2021-04-01"
"GENCC_000107-HGNC_16378-OMIM_607039-HP_0000007-GENCC_100001"	"HGNC:16378"	"OTOA"	"MONDO:0011762"	"autosomal recessive nonsyndromic hearing loss 22"	"OMIM:607039"	"Deafness, autosomal recessive 22"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:16378"	"OTOA"	"OMIM:607039"	"Deafness, autosomal recessive 22"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC187"	"2021-04-01"
"GENCC_000107-HGNC_8516-OMIM_614945-HP_0000007-GENCC_100001"	"HGNC:8516"	"OTOG"	"MONDO:0013985"	"autosomal recessive nonsyndromic hearing loss 18B"	"OMIM:614945"	"Deafness, autosomal recessive 18B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8516"	"OTOG"	"OMIM:614945"	"Deafness, autosomal recessive 18B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:44"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC188"	"2021-04-01"
"GENCC_000107-HGNC_26901-OMIM_614944-HP_0000007-GENCC_100001"	"HGNC:26901"	"OTOGL"	"MONDO:0013984"	"autosomal recessive nonsyndromic hearing loss 84B"	"OMIM:614944"	"Deafness, autosomal recessive 84B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:26901"	"OTOGL"	"OMIM:614944"	"Deafness, autosomal recessive 84B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-25 13:37:45"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC189"	"2021-04-01"
"GENCC_000107-HGNC_18337-OMIM_191480-HP_0000007-GENCC_100002"	"HGNC:18337"	"PADI3"	"MONDO:0020736"	"uncombable hair syndrome 1"	"OMIM:191480"	"Uncombable hair syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18337"	"PADI3"	"OMIM:191480"	"Uncombable hair syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:37:45"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC190"	"2021-04-01"
"GENCC_000107-HGNC_8654-OMIM_606054-HP_0000007-GENCC_100001"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"propionic acidemia"	"OMIM:606054"	"Propionicacidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8654"	"PCCB"	"OMIM:606054"	"Propionicacidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:37:45"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC191"	"2021-04-01"
"GENCC_000107-HGNC_14674-OMIM_609533-HP_0000007-GENCC_100001"	"HGNC:14674"	"PCDH15"	"MONDO:0012293"	"autosomal recessive nonsyndromic hearing loss 23"	"OMIM:609533"	"Deafness, autosomal recessive 23"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:14674"	"PCDH15"	"OMIM:609533"	"Deafness, autosomal recessive 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-23 13:37:45"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC192"	"2021-04-01"
"GENCC_000107-HGNC_8773-OMIM_610475-HP_0000006-GENCC_100004"	"HGNC:8773"	"PDE11A"	"MONDO:0012505"	"pigmented nodular adrenocortical disease, primary, 2"	"OMIM:610475"	"Pigmented nodular adrenocortical disease, primary, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8773"	"PDE11A"	"OMIM:610475"	"Pigmented nodular adrenocortical disease, primary, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-06-01 13:37:45"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC193"	"2021-04-01"
"GENCC_000107-HGNC_8786-OMIM_613801-HP_0000007-GENCC_100001"	"HGNC:8786"	"PDE6B"	"MONDO:0013429"	"retinitis pigmentosa 40"	"OMIM:613801"	"Retinitis pigmentosa-40"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8786"	"PDE6B"	"OMIM:613801"	"Retinitis pigmentosa-40"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:37:45"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC194"	"2021-04-01"
"GENCC_000107-HGNC_8940-OMIM_266500-HP_0000007-GENCC_100001"	"HGNC:8940"	"PHYH"	"MONDO:0009958"	"adult Refsum disease"	"OMIM:266500"	"Refsum disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8940"	"PHYH"	"OMIM:266500"	"Refsum disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-16 13:37:45"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC195"	"2021-04-01"
"GENCC_000107-HGNC_28993-OMIM_194380-HP_0000006-GENCC_100002"	"HGNC:28993"	"PIEZO1"	"MONDO:0008689"	"dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"OMIM:194380"	"Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:28993"	"PIEZO1"	"OMIM:194380"	"Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-25 13:37:46"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC196"	"2021-04-01"
"GENCC_000107-HGNC_28993-OMIM_616843-HP_0000007-GENCC_100002"	"HGNC:28993"	"PIEZO1"	"MONDO:0014797"	"lymphatic malformation 6"	"OMIM:616843"	"Lymphatic malformation 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:28993"	"PIEZO1"	"OMIM:616843"	"Lymphatic malformation 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-25 13:37:46"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC197"	"2021-04-01"
"GENCC_000107-HGNC_9008-OMIM_173900-HP_0000006-GENCC_100001"	"HGNC:9008"	"PKD1"	"MONDO:0008263"	"polycystic kidney disease 1"	"OMIM:173900"	"Polycystic kidney disease 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9008"	"PKD1"	"OMIM:173900"	"Polycystic kidney disease 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:37:46"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC198"	"2021-04-01"
"GENCC_000107-HGNC_9016-OMIM_263200-HP_0000007-GENCC_100001"	"HGNC:9016"	"PKHD1"	"MONDO:0033004"	"polycystic kidney disease 4"	"OMIM:263200"	"Polycystic kidney disease 4, with or without hepatic disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9016"	"PKHD1"	"OMIM:263200"	"Polycystic kidney disease 4, with or without hepatic disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:46"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC199"	"2021-04-01"
"GENCC_000107-HGNC_9020-OMIM_266200-HP_0000007-GENCC_100001"	"HGNC:9020"	"PKLR"	"MONDO:0009950"	"pyruvate kinase deficiency of red cells"	"OMIM:266200"	"Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9020"	"PKLR"	"OMIM:266200"	"Pyruvate kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-15 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC200"	"2021-04-01"
"GENCC_000107-HGNC_9118-OMIM_118220-HP_0000006-GENCC_100001"	"HGNC:9118"	"PMP22"	"MONDO:0007309"	"Charcot-Marie-Tooth disease type 1A"	"OMIM:118220"	"Charcot-Marie-Tooth disease, type 1A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9118"	"PMP22"	"OMIM:118220"	"Charcot-Marie-Tooth disease, type 1A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-25 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC201"	"2021-04-01"
"GENCC_000107-HGNC_9154-OMIM_616267-HP_0000007-GENCC_100001"	"HGNC:9154"	"PNKP"	"MONDO:0014557"	"ataxia - oculomotor apraxia type 4"	"OMIM:616267"	"Ataxia-oculomotor apraxia 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9154"	"PNKP"	"OMIM:616267"	"Ataxia-oculomotor apraxia 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-24 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC202"	"2021-04-01"
"GENCC_000107-HGNC_9179-OMIM_203700-HP_0000007-GENCC_100002"	"HGNC:9179"	"POLG"	"MONDO:0008758"	"mitochondrial DNA depletion syndrome 4a"	"OMIM:203700"	"Mitochondrial DNA depletion syndrome 4A (Alpers type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9179"	"POLG"	"OMIM:203700"	"Mitochondrial DNA depletion syndrome 4A (Alpers type)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-04 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC203"	"2021-04-01"
"GENCC_000107-HGNC_9202-OMIM_236670-HP_0000007-GENCC_100002"	"HGNC:9202"	"POMT1"	"MONDO:0009364"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1"	"OMIM:236670"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9202"	"POMT1"	"OMIM:236670"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-25 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC204"	"2021-04-01"
"GENCC_000107-HGNC_28883-OMIM_617222-HP_0000007-GENCC_100002"	"HGNC:28883"	"PPA2"	"MONDO:0014973"	"sudden cardiac failure, infantile"	"OMIM:617222"	"Sudden cardiac failure, infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:28883"	"PPA2"	"OMIM:617222"	"Sudden cardiac failure, infantile"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"1930-06-27 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC205"	"2021-04-01"
"GENCC_000107-HGNC_8607-OMIM_600116-HP_0000007-GENCC_100001"	"HGNC:8607"	"PRKN"	"MONDO:0010820"	"autosomal recessive juvenile Parkinson disease 2"	"OMIM:600116"	"Parkinson disease, juvenile, type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8607"	"PRKN"	"OMIM:600116"	"Parkinson disease, juvenile, type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-23 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC206"	"2021-04-01"
"GENCC_000107-HGNC_9438-OMIM_612067-HP_0000007-GENCC_100003"	"HGNC:9438"	"PRKRA"	"MONDO:0012789"	"dystonia 16"	"OMIM:612067"	"Dystonia 16"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9438"	"PRKRA"	"OMIM:612067"	"Dystonia 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-01 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC207"	"2021-04-01"
"GENCC_000107-HGNC_9453-OMIM_239500-HP_0000007-GENCC_100001"	"HGNC:9453"	"PRODH"	"MONDO:0009400"	"hyperprolinemia type 1"	"OMIM:239500"	"Hyperprolinemia, type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9453"	"PRODH"	"OMIM:239500"	"Hyperprolinemia, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-20 13:37:47"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC208"	"2021-04-01"
"GENCC_000107-HGNC_15836-OMIM_244200-HP_0000006-GENCC_100002"	"HGNC:15836"	"PROKR2"	"MONDO:0009482"	"hypogonadotropic hypogonadism 3 with or without anosmia"	"OMIM:244200"	"Hypogonadotropic hypogonadism 3 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:15836"	"PROKR2"	"OMIM:244200"	"Hypogonadotropic hypogonadism 3 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:37:48"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC209"	"2021-04-01"
"GENCC_000107-HGNC_26392-OMIM_300830-HP_0001417-GENCC_100001"	"HGNC:26392"	"PTCHD1"	"MONDO:0010440"	"autism, susceptibility to, X-linked 4"	"OMIM:300830"	"{Autism, susceptibility to, X-linked 4}"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:26392"	"PTCHD1"	"OMIM:300830"	"Autism, susceptibility to, X-linked 4"	"HP:0001417"	"X-linked inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-15 13:37:48"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC210"	"2021-04-01"
"GENCC_000107-HGNC_9652-OMIM_222100-HP_0000007-GENCC_100004"	"HGNC:9652"	"PTPN22"	"MONDO:0009100"	"type 1 diabetes mellitus 1"	"OMIM:222100"	"{Diabetes mellitus, insulin-dependent}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9652"	"PTPN22"	"OMIM:222100"	"Diabetes, type 1, susceptibility to"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-03-24 13:37:48"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC211"	"2021-04-01"
"GENCC_000107-HGNC_9652-OMIM_180300-HP_0000005-GENCC_100004"	"HGNC:9652"	"PTPN22"	"MONDO:0008383"	"rheumatoid arthritis"	"OMIM:180300"	"{Rheumatoid arthritis, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9652"	"PTPN22"	"OMIM:180300"	"Rheumatoid arthritis, susceptibility to"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-03-24 13:37:49"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC212"	"2021-04-01"
"GENCC_000107-HGNC_9870-OMIM_616140-HP_0000007-GENCC_100003"	"HGNC:9870"	"RARS1"	"MONDO:0014506"	"hypomyelinating leukodystrophy 9"	"OMIM:616140"	"Leukodystrophy, hypomyelinating, 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9870"	"RARS1"	"OMIM:616140"	"Leukodystrophy, hypomyelinating, 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-05-28 13:37:49"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC213"	"2021-04-01"
"GENCC_000107-HGNC_21406-OMIM_611523-HP_0000007-GENCC_100002"	"HGNC:21406"	"RARS2"	"MONDO:0012683"	"pontocerebellar hypoplasia type 6"	"OMIM:611523"	"Pontocerebellar hypoplasia, type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:21406"	"RARS2"	"OMIM:611523"	"Pontocerebellar hypoplasia, type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-23 13:37:49"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC214"	"2021-04-01"
"GENCC_000107-HGNC_18222-OMIM_209850-HP_0000005-GENCC_100004"	"HGNC:18222"	"RBFOX1"	"MONDO:0020643"	"autism susceptibility 1"	"OMIM:209850"	"{Autism susceptibility 1}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18222"	"RBFOX1"	"OMIM:209850"	"Autism"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-21 13:37:50"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC216"	"2021-04-01"
"GENCC_000107-HGNC_9905-OMIM_274000-HP_0000007-GENCC_100001"	"HGNC:9905"	"RBM8A"	"MONDO:0010121"	"thrombocytopenia-absent radius syndrome"	"OMIM:274000"	"Thrombocytopenia-absent radius syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9905"	"RBM8A"	"OMIM:274000"	"Thrombocytopenia-absent radius syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:50"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC217"	"2021-04-01"
"GENCC_000107-HGNC_18243-OMIM_617175-HP_0000007-GENCC_100004"	"HGNC:18243"	"RCBTB1"	"MONDO:0014955"	"RCBTB1-related retinopathy"	"OMIM:617175"	"Retinal dystrophy with or without extraocular anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18243"	"RCBTB1"	"OMIM:617175"	"Retinal dystrophy with or without extraocular anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-18 13:37:50"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC218"	"2021-04-01"
"GENCC_000107-HGNC_9968-OMIM_157900-HP_0000005-GENCC_100004"	"HGNC:9968"	"REV3L"	"MONDO:0008006"	"Mobius syndrome"	"OMIM:157900"	"?Moebius syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9968"	"REV3L"	"OMIM:157900"	"Moebius syndrome"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-28 13:37:51"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC219"	"2021-04-01"
"GENCC_000107-HGNC_9987-OMIM_209920-HP_0000007-GENCC_100002"	"HGNC:9987"	"RFXANK"	"MONDO:0008855"	"MHC class II deficiency"	"OMIM:209920"	"MHC class II deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:9987"	"RFXANK"	"OMIM:209920"	"Bare lymphocyte syndrome, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:37:51"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC220"	"2021-04-01"
"GENCC_000107-HGNC_15946-OMIM_613587-HP_0000006-GENCC_100002"	"HGNC:15946"	"RP1L1"	"MONDO:0013316"	"occult macular dystrophy"	"OMIM:613587"	"Occult macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:15946"	"RP1L1"	"OMIM:613587"	"Occult macular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-15 13:37:52"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC221"	"2021-04-01"
"GENCC_000107-HGNC_10411-OMIM_610629-HP_0000006-GENCC_100001"	"HGNC:10411"	"RPS24"	"MONDO:0012529"	"Diamond-Blackfan anemia 3"	"OMIM:610629"	"Diamond-blackfan anemia 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10411"	"RPS24"	"OMIM:610629"	"Diamond-blackfan anemia 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:52"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC222"	"2021-04-01"
"GENCC_000107-HGNC_10484-OMIM_600996-HP_0000006-GENCC_100001"	"HGNC:10484"	"RYR2"	"MONDO:0010975"	"arrhythmogenic right ventricular dysplasia 2"	"OMIM:600996"	"OMIM:600996"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10484"	"RYR2"	"OMIM:600996"	"Arrhythmogenic right ventricular dysplasia "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:37:52"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC223"	"2021-04-01"
"GENCC_000107-HGNC_10519-OMIM_270550-HP_0000007-GENCC_100001"	"HGNC:10519"	"SACS"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"OMIM:270550"	"Spastic ataxia, Charlevoix-Saguenay type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10519"	"SACS"	"OMIM:270550"	"Spastic ataxia, Charlevoix-Saguenay type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:52"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC224"	"2021-04-01"
"GENCC_000107-HGNC_10585-OMIM_607208-HP_0000006-GENCC_100001"	"HGNC:10585"	"SCN1A"	"MONDO:0100079"	"developmental and epileptic encephalopathy, 6"	"OMIM:607208"	"Dravet syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10585"	"SCN1A"	"OMIM:607208"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-22 13:37:52"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC225"	"2021-04-01"
"GENCC_000107-HGNC_10591-OMIM_168300-HP_0000006-GENCC_100001"	"HGNC:10591"	"SCN4A"	"MONDO:0008195"	"paramyotonia congenita of Von Eulenburg"	"OMIM:168300"	"Paramyotonia congenita"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10591"	"SCN4A"	"OMIM:168300"	"Paramyotonia congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-22 13:37:52"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC226"	"2021-04-01"
"GENCC_000107-HGNC_10592-OMIM_611819-HP_0000005-GENCC_100004"	"HGNC:10592"	"SCN4B"	"MONDO:0012737"	"long QT syndrome 10"	"OMIM:611819"	"Long QT syndrome 10"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10592"	"SCN4B"	"OMIM:611819"	"Long QT syndrome 10"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-15 13:37:52"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC227"	"2021-04-01"
"GENCC_000107-HGNC_10593-OMIM_601144-HP_0000006-GENCC_100001"	"HGNC:10593"	"SCN5A"	"MONDO:0011001"	"Brugada syndrome 1"	"OMIM:601144"	"Brugada syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10593"	"SCN5A"	"OMIM:601144"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-15 13:37:53"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC228"	"2021-04-01"
"GENCC_000107-HGNC_10597-OMIM_243000-HP_0000007-GENCC_100002"	"HGNC:10597"	"SCN9A"	"MONDO:0009459"	"channelopathy-associated congenital insensitivity to pain, autosomal recessive"	"OMIM:243000"	"Neuropathy, hereditary sensory and autonomic, type IID"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10597"	"SCN9A"	"OMIM:243000"	"Insensitivity to pain, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-22 13:37:53"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC229"	"2021-04-01"
"GENCC_000107-HGNC_10599-OMIM_264350-HP_0000007-GENCC_100002"	"HGNC:10599"	"SCNN1A"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"OMIM:264350"	"Pseudohypoaldosteronism, type IB1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10599"	"SCNN1A"	"OMIM:264350"	"Pseudohypoaldosteronism, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-15 13:37:53"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC230"	"2021-04-01"
"GENCC_000107-HGNC_10602-OMIM_618114-HP_0000006-GENCC_100002"	"HGNC:10602"	"SCNN1G"	"MONDO:0020854"	"Liddle syndrome 2"	"OMIM:618114"	"Liddle syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10602"	"SCNN1G"	"OMIM:618114"	"Liddle syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-03-24 13:37:54"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC231"	"2021-04-01"
"GENCC_000107-HGNC_10702-OMIM_224100-HP_0000007-GENCC_100002"	"HGNC:10702"	"SEC23B"	"MONDO:0009134"	"congenital dyserythropoietic anemia type 2"	"OMIM:224100"	"Dyserythropoietic anemia, congenital, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10702"	"SEC23B"	"OMIM:224100"	"Dyserythropoietic anemia, congenital, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:37:54"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC232"	"2021-04-01"
"GENCC_000107-HGNC_8824-OMIM_613982-HP_0000007-GENCC_100002"	"HGNC:8824"	"SERPINF1"	"MONDO:0013515"	"osteogenesis imperfecta type 6"	"OMIM:613982"	"Osteogenesis imperfecta, type VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:8824"	"SERPINF1"	"OMIM:613982"	"Osteogenesis imperfecta, type VI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-23 13:37:54"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC234"	"2021-04-01"
"GENCC_000107-HGNC_15573-OMIM_269150-HP_0000006-GENCC_100002"	"HGNC:15573"	"SETBP1"	"MONDO:0010010"	"Schinzel-Giedion syndrome"	"OMIM:269150"	"Schinzel-Giedion midface retraction syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:15573"	"SETBP1"	"OMIM:269150"	"Schinzel-Giedion midface retraction syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-19 13:37:54"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC235"	"2021-04-01"
"GENCC_000107-HGNC_26116-OMIM_114500-HP_0000005-GENCC_100004"	"HGNC:26116"	"SETD6"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:26116"	"SETD6"	"OMIM:114500"	"Colorectal cancer"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-19 13:37:55"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC236"	"2021-04-01"
"GENCC_000107-HGNC_10799-OMIM_178500-HP_0000005-GENCC_100004"	"HGNC:10799"	"SFTPA2"	"MONDO:0008345"	"idiopathic pulmonary fibrosis"	"OMIM:178500"	"{Pulmonary fibrosis, idiopathic, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10799"	"SFTPA2"	"OMIM:178500"	"Pulmonary fibrosis, idiopathic"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-22 13:37:55"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC237"	"2021-04-01"
"GENCC_000107-HGNC_10802-OMIM_610913-HP_0000006-GENCC_100001"	"HGNC:10802"	"SFTPC"	"MONDO:0024465"	"surfactant metabolism dysfunction, pulmonary, 2"	"OMIM:610913"	"Surfactant metabolism dysfunction, pulmonary, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10802"	"SFTPC"	"OMIM:610913"	"Surfactant metabolism dysfunction, pulmonary, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-23 13:37:55"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC238"	"2021-04-01"
"GENCC_000107-HGNC_10805-OMIM_608099-HP_0000007-GENCC_100001"	"HGNC:10805"	"SGCA"	"MONDO:0011968"	"autosomal recessive limb-girdle muscular dystrophy type 2D"	"OMIM:608099"	"Muscular dystrophy, limb-girdle, autosomal recessive 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10805"	"SGCA"	"OMIM:608099"	"Muscular dystrophy, limb-girdle, type 2D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:37:55"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC239"	"2021-04-01"
"GENCC_000107-HGNC_14294-OMIM_606232-HP_0000006-GENCC_100002"	"HGNC:14294"	"SHANK3"	"MONDO:0011652"	"Phelan-McDermid syndrome"	"OMIM:606232"	"Phelan-McDermid syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:14294"	"SHANK3"	"OMIM:606232"	"Phelan-McDermid syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-23 13:37:55"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC241"	"2021-04-01"
"GENCC_000107-HGNC_10856-OMIM_222900-HP_0000007-GENCC_100002"	"HGNC:10856"	"SI"	"MONDO:0009114"	"congenital sucrase-isomaltase deficiency"	"OMIM:222900"	"Sucrase-isomaltase deficiency, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10856"	"SI"	"OMIM:222900"	"Sucrase-isomaltase deficiency, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-14 13:37:55"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC242"	"2021-04-01"
"GENCC_000107-HGNC_18187-OMIM_613551-HP_0000005-GENCC_100004"	"HGNC:18187"	"SIAE"	"MONDO:0013303"	"autoimmune disease, susceptibility to, 6"	"OMIM:613551"	"{Autoimmune disease, susceptibility to, 6}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18187"	"SIAE"	"OMIM:613551"	"Autoimmune disease, susceptibility to"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-18 13:37:56"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC243"	"2021-04-01"
"GENCC_000107-HGNC_10889-OMIM_157170-HP_0000006-GENCC_100002"	"HGNC:10889"	"SIX3"	"MONDO:0007999"	"holoprosencephaly 2"	"OMIM:157170"	"Holoprosencephaly 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10889"	"SIX3"	"OMIM:157170"	"Holoprosencephaly-2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-07 13:37:57"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC245"	"2021-04-01"
"GENCC_000107-HGNC_23094-OMIM_612018-HP_0000005-GENCC_100004"	"HGNC:23094"	"SLC16A12"	"MONDO:0012786"	"juvenile cataract-microcornea-renal glucosuria syndrome"	"OMIM:612018"	"Cataract 47, juvenile, with microcornea"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:23094"	"SLC16A12"	"OMIM:612018"	"Cataract 47, juvenile, with microcornea"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-28 13:37:57"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC246"	"2021-04-01"
"GENCC_000107-HGNC_10941-OMIM_612656-HP_0000005-GENCC_100004"	"HGNC:10941"	"SLC1A3"	"MONDO:0012982"	"episodic ataxia type 6"	"OMIM:612656"	"Episodic ataxia, type 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:10941"	"SLC1A3"	"OMIM:612656"	"Episodic ataxia, type 6"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-06-01 13:37:57"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC247"	"2021-04-01"
"GENCC_000107-HGNC_29683-OMIM_616839-HP_0000005-GENCC_100004"	"HGNC:29683"	"SLC25A32"	"MONDO:0014795"	"exercise intolerance, riboflavin-responsive"	"OMIM:616839"	"?Exercise intolerance, riboflavin-responsive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:29683"	"SLC25A32"	"OMIM:616839"	"Exercise intolerance, riboflavin-responsive"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-16 13:37:58"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC248"	"2021-04-01"
"GENCC_000107-HGNC_11067-OMIM_220100-HP_0000007-GENCC_100001"	"HGNC:11067"	"SLC7A9"	"MONDO:0009067"	"cystinuria"	"OMIM:220100"	"Cystinuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11067"	"SLC7A9"	"OMIM:220100"	"Cystinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-01 13:37:58"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC251"	"2021-04-01"
"GENCC_000107-HGNC_11075-OMIM_612287-HP_0000005-GENCC_100004"	"HGNC:11075"	"NHERF1"	"MONDO:0012851"	"hypophosphatemic nephrolithiasis/osteoporosis 2"	"OMIM:612287"	"Nephrolithiasis/osteoporosis, hypophosphatemic, 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11075"	"SLC9A3R1"	"OMIM:612287"	"Nephrolithiasis/osteoporosis, hypophosphatemic, 2"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-23 13:37:59"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC252"	"2021-04-01"
"GENCC_000107-HGNC_32952-OMIM_614561-HP_0000007-GENCC_100003"	"HGNC:32952"	"SNORD118"	"MONDO:0013803"	"leukoencephalopathy with calcifications and cysts"	"OMIM:614561"	"Leukoencephalopathy, brain calcifications, and cysts"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:32952"	"SNORD118"	"OMIM:614561"	"Leukoencephalopathy, brain calcifications, and cysts"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-05-19 13:37:59"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC253"	"2021-04-01"
"GENCC_000107-HGNC_11190-OMIM_613266-HP_0000006-GENCC_100001"	"HGNC:11190"	"SOX10"	"MONDO:0013202"	"Waardenburg syndrome type 4C"	"OMIM:613266"	"Waardenburg syndrome, type 4C"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11190"	"SOX10"	"OMIM:613266"	"Waardenburg syndrome, type 4C"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:37:59"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC254"	"2021-04-01"
"GENCC_000107-HGNC_11237-OMIM_607259-HP_0000007-GENCC_100001"	"HGNC:11237"	"SPG7"	"MONDO:0011803"	"hereditary spastic paraplegia 7"	"OMIM:607259"	"Spastic paraplegia 7, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11237"	"SPG7"	"OMIM:607259"	"Spastic paraplegia 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-26 13:37:59"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC255"	"2021-04-01"
"GENCC_000107-HGNC_11272-OMIM_270970-HP_0000007-GENCC_100001"	"HGNC:11272"	"SPTA1"	"MONDO:0010053"	"hereditary spherocytosis type 3"	"OMIM:270970"	"Spherocytosis, type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11272"	"SPTA1"	"OMIM:270970"	"Spherocytosis, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-19 13:38:00"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC256"	"2021-04-01"
"GENCC_000107-HGNC_11272-OMIM_130600-HP_0000006-GENCC_100002"	"HGNC:11272"	"SPTA1"	"MONDO:0007533"	"elliptocytosis 2"	"OMIM:130600"	"Elliptocytosis-2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11272"	"SPTA1"	"OMIM:130600"	"Elliptocytosis-2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-08 13:38:00"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC257"	"2021-04-01"
"GENCC_000107-HGNC_11273-OMIM_613477-HP_0000006-GENCC_100001"	"HGNC:11273"	"SPTAN1"	"MONDO:0013277"	"developmental and epileptic encephalopathy, 5"	"OMIM:613477"	"Developmental and epileptic encephalopathy 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11273"	"SPTAN1"	"OMIM:613477"	"Epileptic encephalopathy, early infantile, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-28 13:38:00"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC258"	"2021-04-01"
"GENCC_000107-HGNC_11494-OMIM_300491-HP_0001417-GENCC_100003"	"HGNC:11494"	"SYN1"	"MONDO:0010339"	"epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	"OMIM:300491"	"Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11494"	"SYN1"	"OMIM:300491"	"Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)"	"HP:0001417"	"X-linked inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-06-22 13:38:01"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC262"	"2021-04-01"
"GENCC_000107-HGNC_17089-OMIM_610743-HP_0000007-GENCC_100002"	"HGNC:17089"	"SYNE1"	"MONDO:0012549"	"autosomal recessive ataxia, Beauce type"	"OMIM:610743"	"Spinocerebellar ataxia, autosomal recessive 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:17089"	"SYNE1"	"OMIM:610743"	"Spinocerebellar ataxia, autosomal recessive 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-22 13:38:01"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC263"	"2021-04-01"
"GENCC_000107-HGNC_17075-OMIM_614980-HP_0000006-GENCC_100002"	"HGNC:17075"	"TAB2"	"MONDO:0014000"	"congenital heart defects, multiple types, 2"	"OMIM:614980"	"Congenital heart defects, nonsyndromic, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:17075"	"TAB2"	"OMIM:614980"	"Congenital heart defects, nonsyndromic, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2021-03-31 13:38:02"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC264"	"2021-04-01"
"GENCC_000107-HGNC_11588-OMIM_607136-HP_0000006-GENCC_100001"	"HGNC:11588"	"TBP"	"MONDO:0011781"	"spinocerebellar ataxia type 17"	"OMIM:607136"	"Spinocerebellar ataxia 17"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11588"	"TBP"	"OMIM:607136"	"Spinocerebellar ataxia 17"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-14 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC266"	"2021-04-01"
"GENCC_000107-HGNC_24519-OMIM_258860-HP_0000007-GENCC_100002"	"HGNC:24519"	"TCTN3"	"MONDO:0009794"	"orofaciodigital syndrome IV"	"OMIM:258860"	"Orofaciodigital syndrome IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:24519"	"TCTN3"	"OMIM:258860"	"Orofaciodigital syndrome IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC268"	"2021-04-01"
"GENCC_000107-HGNC_29945-OMIM_616736-HP_0000006-GENCC_100003"	"HGNC:29945"	"TENM4"	"MONDO:0014756"	"tremor, hereditary essential, 5"	"OMIM:616736"	"Essential tremor, hereditary, 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:29945"	"TENM4"	"OMIM:616736"	"Tremor, hereditary essential, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-04-22 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC269"	"2021-04-01"
"GENCC_000107-HGNC_11730-OMIM_613989-HP_0000005-GENCC_100001"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100001"	"Definitive"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11730"	"TERT"	"OMIM:613989"	"Dyskeratosis congenita"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC270"	"2021-04-01"
"GENCC_000107-HGNC_11776-OMIM_142946-HP_0000006-GENCC_100002"	"HGNC:11776"	"TGIF1"	"MONDO:0007734"	"holoprosencephaly 4"	"OMIM:142946"	"Holoprosencephaly 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11776"	"TGIF1"	"OMIM:142946"	"Holoprosencephaly 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-07 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC271"	"2021-04-01"
"GENCC_000107-HGNC_20856-OMIM_602629-HP_0000006-GENCC_100002"	"HGNC:20856"	"THAP1"	"MONDO:0011264"	"torsion dystonia 6"	"OMIM:602629"	"Dystonia 6, torsion"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:20856"	"THAP1"	"OMIM:602629"	"Dystonia 6, torsion"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-01 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC272"	"2021-04-01"
"GENCC_000107-HGNC_18188-OMIM_213980-HP_0000007-GENCC_100002"	"HGNC:18188"	"TMCO1"	"MONDO:0008952"	"cerebrofaciothoracic dysplasia"	"OMIM:213980"	"Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18188"	"TMCO1"	"OMIM:213980"	"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-04 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC273"	"2021-04-01"
"GENCC_000107-HGNC_18153-OMIM_240500-HP_0000007-GENCC_100002"	"HGNC:18153"	"TNFRSF13B"	"MONDO:0009413"	"immunodeficiency, common variable, 2"	"OMIM:240500"	"Immunodeficiency, common variable, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:18153"	"TNFRSF13B"	"OMIM:240500"	"Immunodeficiency, common variable, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-16 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC275"	"2021-04-01"
"GENCC_000107-HGNC_11916-OMIM_142680-HP_0000006-GENCC_100002"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"OMIM:142680"	"Periodic fever, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:11916"	"TNFRSF1A"	"OMIM:142680"	"Periodic fever, familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-14 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC276"	"2021-04-01"
"GENCC_000107-HGNC_25751-OMIM_615356-HP_0000007-GENCC_100002"	"HGNC:25751"	"TRAPPC11"	"MONDO:0014144"	"autosomal recessive limb-girdle muscular dystrophy type R18"	"OMIM:615356"	"Muscular dystrophy, limb-girdle, autosomal recessive 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:25751"	"TRAPPC11"	"OMIM:615356"	"Muscular dystrophy, limb-girdle, type 2S"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-14 13:38:03"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC277"	"2021-04-01"
"GENCC_000107-HGNC_17009-OMIM_609823-HP_0000007-GENCC_100001"	"HGNC:17009"	"TRIOBP"	"MONDO:0012355"	"autosomal recessive nonsyndromic hearing loss 28"	"OMIM:609823"	"Deafness, autosomal recessive 28"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:17009"	"TRIOBP"	"OMIM:609823"	"Deafness, autosomal recessive 28"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-20 13:38:04"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC279"	"2021-04-01"
"GENCC_000107-HGNC_12305-OMIM_200600-HP_0000007-GENCC_100002"	"HGNC:12305"	"TRIP11"	"MONDO:0008701"	"achondrogenesis type IA"	"OMIM:200600"	"Achondrogenesis, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12305"	"TRIP11"	"OMIM:200600"	"Achondrogenesis, type IA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-25 13:38:04"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC280"	"2021-04-01"
"GENCC_000107-HGNC_17341-OMIM_616084-HP_0000007-GENCC_100002"	"HGNC:17341"	"TRNT1"	"MONDO:0014487"	"congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	"OMIM:616084"	"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:17341"	"TRNT1"	"OMIM:616084"	"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-04-07 13:38:05"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC281"	"2021-04-01"
"GENCC_000107-HGNC_17993-OMIM_604559-HP_0000006-GENCC_100003"	"HGNC:17993"	"TRPM4"	"MONDO:0011474"	"progressive familial heart block type IB"	"OMIM:604559"	"Progressive familial heart block, type IB"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:17993"	"TRPM4"	"OMIM:604559"	"Progressive familial heart block, type IB"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100003"	"Moderate"	"2020-04-23 13:38:05"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC282"	"2021-04-01"
"GENCC_000107-HGNC_12363-OMIM_613254-HP_0000006-GENCC_100001"	"HGNC:12363"	"TSC2"	"MONDO:0013199"	"tuberous sclerosis 2"	"OMIM:613254"	"Tuberous sclerosis-2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12363"	"TSC2"	"OMIM:613254"	"Tuberous sclerosis-2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-23 13:38:05"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC283"	"2021-04-01"
"GENCC_000107-HGNC_12428-OMIM_101400-HP_0000006-GENCC_100001"	"HGNC:12428"	"TWIST1"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"OMIM:101400"	"Saethre-Chotzen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12428"	"TWIST1"	"OMIM:101400"	"Saethre-Chotzen syndrome with or without eyelid anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-23 13:38:05"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC284"	"2021-04-01"
"GENCC_000107-HGNC_12442-OMIM_203100-HP_0000007-GENCC_100001"	"HGNC:12442"	"TYR"	"MONDO:0008745"	"oculocutaneous albinism type 1A"	"OMIM:203100"	"Albinism, oculocutaneous, type IA"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12442"	"TYR"	"OMIM:203100"	"Albinism, oculocutaneous, type IA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-05-18 13:38:05"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC286"	"2021-04-01"
"GENCC_000107-HGNC_12530-OMIM_218800-HP_0000007-GENCC_100001"	"HGNC:12530"	"UGT1A1"	"MONDO:0021020"	"Crigler-Najjar syndrome type 1"	"OMIM:218800"	"Crigler-Najjar syndrome, type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12530"	"UGT1A1"	"OMIM:218800"	"Crigler-Najjar syndrome, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-04 13:38:05"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC287"	"2021-04-01"
"GENCC_000107-HGNC_12559-OMIM_609886-HP_0000006-GENCC_100001"	"HGNC:12559"	"UMOD"	"MONDO:0012356"	"glomerulocystic kidney disease with hyperuricemia and isosthenuria"	"OMIM:609886"	"OMIM:609886"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12559"	"UMOD"	"OMIM:609886"	"Glomerulocystic kidney disease with hyperuricemia and isosthenuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-23 13:38:06"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC288"	"2021-04-01"
"GENCC_000107-HGNC_23147-OMIM_608898-HP_0000007-GENCC_100002"	"HGNC:23147"	"UNC13D"	"MONDO:0012146"	"familial hemophagocytic lymphohistiocytosis 3"	"OMIM:608898"	"Hemophagocytic lymphohistiocytosis, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:23147"	"UNC13D"	"OMIM:608898"	"Hemophagocytic lymphohistiocytosis, familial, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-05-19 13:38:06"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC289"	"2021-04-01"
"GENCC_000107-HGNC_16297-OMIM_613161-HP_0000007-GENCC_100002"	"HGNC:16297"	"UPB1"	"MONDO:0013164"	"beta-ureidopropionase deficiency"	"OMIM:613161"	"Beta-ureidopropionase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:16297"	"UPB1"	"OMIM:613161"	"Beta-ureidopropionase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-02 13:38:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC290"	"2021-04-01"
"GENCC_000107-HGNC_12597-OMIM_276904-HP_0000007-GENCC_100001"	"HGNC:12597"	"USH1C"	"MONDO:0010171"	"Usher syndrome type 1C"	"OMIM:276904"	"Usher syndrome, type 1C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12597"	"USH1C"	"OMIM:276904"	"Usher syndrome, type 1C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-22 13:38:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC291"	"2021-04-01"
"GENCC_000107-HGNC_16356-OMIM_606943-HP_0000007-GENCC_100001"	"HGNC:16356"	"USH1G"	"MONDO:0011748"	"Usher syndrome type 1G"	"OMIM:606943"	"Usher syndrome, type 1G"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:16356"	"USH1G"	"OMIM:606943"	"Usher syndrome, type 1G"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-04-07 13:38:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC292"	"2021-04-01"
"GENCC_000107-HGNC_15511-OMIM_182940-HP_0000006-GENCC_100004"	"HGNC:15511"	"VANGL2"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"{Neural tube defects, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:15511"	"VANGL2"	"OMIM:182940"	"Neural tube defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-05-08 13:38:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC293"	"2021-04-01"
"GENCC_000107-HGNC_2183-OMIM_216550-HP_0000007-GENCC_100001"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"OMIM:216550"	"Cohen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:2183"	"VPS13B"	"OMIM:216550"	"Cohen syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-06-01 13:38:07"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC295"	"2021-04-01"
"GENCC_000107-HGNC_12723-OMIM_148300-HP_0000006-GENCC_100004"	"HGNC:12723"	"VSX1"	"MONDO:0007851"	"keratoconus 1"	"OMIM:148300"	"Keratoconus 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12723"	"VSX1"	"OMIM:148300"	"Keratoconus 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-14 13:38:08"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC296"	"2021-04-01"
"GENCC_000107-HGNC_12726-OMIM_613554-HP_0000006-GENCC_100001"	"HGNC:12726"	"VWF"	"MONDO:0013304"	"von Willebrand disease 2"	"OMIM:613554"	"von Willebrand disease, types 2A, 2B, 2M, and 2N"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12726"	"VWF"	"OMIM:613554"	"von Willebrand disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100001"	"Definitive"	"2020-07-03 13:38:08"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC298"	"2021-04-01"
"GENCC_000107-HGNC_24502-OMIM_604317-HP_0000007-GENCC_100002"	"HGNC:24502"	"WDR62"	"MONDO:0011435"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"OMIM:604317"	"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:24502"	"WDR62"	"OMIM:604317"	"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-02 13:38:08"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC299"	"2021-04-01"
"GENCC_000107-HGNC_12831-OMIM_616541-HP_0000007-GENCC_100002"	"HGNC:12831"	"XRCC4"	"MONDO:0014686"	"short stature, microcephaly, and endocrine dysfunction"	"OMIM:616541"	"Short stature, microcephaly, and endocrine dysfunction"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:12831"	"XRCC4"	"OMIM:616541"	"Short stature, microcephaly, and endocrine dysfunction"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100002"	"Strong"	"2020-06-27 13:38:09"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC300"	"2021-04-01"
"GENCC_000107-HGNC_16762-OMIM_614844-HP_0000005-GENCC_100004"	"HGNC:16762"	"ZNF423"	"MONDO:0013916"	"nephronophthisis 14"	"OMIM:614844"	"Joubert syndrome 19"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:16762"	"ZNF423"	"OMIM:614844"	"Nephronophthisis 14"	"HP:0000005"	"Unknown inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-06-01 13:38:09"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC301"	"2021-04-01"
"GENCC_000107-HGNC_29222-OMIM_614167-HP_0000006-GENCC_100004"	"HGNC:29222"	"ZNF644"	"MONDO:0013604"	"myopia 21, autosomal dominant"	"OMIM:614167"	"Myopia 21, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"HGNC:29222"	"ZNF644"	"OMIM:614167"	"Myopia 21, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000107"	"Laboratory for Molecular Medicine"	"GENCC:100004"	"Limited"	"2020-04-22 13:38:09"	""	"This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results."	""	"https://search.thegencc.org/submitters/GENCC_000107"	"LMMGENCC302"	"2021-04-01"
"GENCC_000111-HGNC_24036-OMIM_618677-HP_0000007-GENCC_100002"	"HGNC:24036"	"APC2"	"MONDO:0032866"	"cortical dysplasia, complex, with other brain malformations 10"	"OMIM:618677"	"Cortical dysplasia, complex, with other brain malformations 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:24036"	"APC2"	"OMIM:618677"	"Cortical dysplasia, complex, with other brain malformations 10, MIM#618677"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:10"	"https://panelapp.agha.umccr.org/panels/15/"	""	"31585108"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.24036"	"2021-03-09"
"GENCC_000111-HGNC_1774-OMIM_616342-HP_0000007-GENCC_100004"	"HGNC:1774"	"CDK5"	"MONDO:0014596"	"lissencephaly 7 with cerebellar hypoplasia"	"OMIM:616342"	"?Lissencephaly 7 with cerebellar hypoplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1774"	"CDK5"	"OMIM:616342"	"Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-01-18 13:38:10"	"https://panelapp.agha.umccr.org/panels/15/"	""	"25560765"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.1774"	"2021-03-09"
"GENCC_000111-HGNC_21638-OMIM_618873-HP_0000006-GENCC_100002"	"HGNC:21638"	"CEP85L"	"MONDO:0030031"	"lissencephaly 10"	"OMIM:618873"	"Lissencephaly 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21638"	"CEP85L"	"OMIM:618873"	"Lissencephaly 10, OMIM#	618873"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:10"	"https://panelapp.agha.umccr.org/panels/15/"	""	"32097630"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.21638"	"2021-03-09"
"GENCC_000111-HGNC_2340-OMIM_614499-HP_0000007-GENCC_100002"	"HGNC:2340"	"CRADD"	"MONDO:0013785"	"intellectual disability, autosomal recessive 34"	"OMIM:614499"	"Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2340"	"CRADD"	"OMIM:614499"	"Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:10"	"https://panelapp.agha.umccr.org/panels/15/"	""	"27773430"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.2340"	"2021-03-09"
"GENCC_000111-HGNC_2457-OMIM_617062-HP_0000006-GENCC_100003"	"HGNC:2457"	"CSNK2A1"	"MONDO:0014893"	"Okur-Chung neurodevelopmental syndrome"	"OMIM:617062"	"Okur-Chung neurodevelopmental syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2457"	"CSNK2A1"	"OMIM:617062"	"Okur-Chung neurodevelopmental syndrome (MIM#617062)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-01-18 13:38:10"	"https://panelapp.agha.umccr.org/panels/15/"	""	"27048600, 29240241"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.2457"	"2021-03-09"
"GENCC_000111-HGNC_2510-OMIM_618174-HP_0000007-GENCC_100002"	"HGNC:2510"	"CTNNA2"	"MONDO:0032578"	"cortical dysplasia, complex, with other brain malformations 9"	"OMIM:618174"	"Cortical dysplasia, complex, with other brain malformations 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2510"	"CTNNA2"	"OMIM:618174"	"Cortical dysplasia, complex, with other brain malformations 9, MIM#618174"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:11"	"https://panelapp.agha.umccr.org/panels/15/"	""	"30013181"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.2510"	"2021-03-09"
"GENCC_000111-HGNC_13681-OMIM_601390-HP_0000007-GENCC_100002"	"HGNC:13681"	"DCHS1"	"MONDO:0011070"	"van Maldergem syndrome 1"	"OMIM:601390"	"Van Maldergem syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13681"	"DCHS1"	"OMIM:601390"	"Van Maldergem syndrome 1 (MIM#601390)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:11"	"https://panelapp.agha.umccr.org/panels/15/"	""	"27262615, 22473091"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.13681"	"2021-03-09"
"GENCC_000111-HGNC_2961-OMIM_614563-HP_0000006-GENCC_100002"	"HGNC:2961"	"DYNC1H1"	"MONDO:0013805"	"intellectual disability, autosomal dominant 13"	"OMIM:614563"	"Cortical dysplasia, complex, with other brain malformations 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2961"	"DYNC1H1"	"OMIM:614563"	"Mental retardation, autosomal dominant 13, MIM# 614563"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"23603762, 29671837, 32570172, 27331017"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.2961"	"2021-03-09"
"GENCC_000111-HGNC_3330-OMIM_600348-HP_0000007-GENCC_100002"	"HGNC:3330"	"EML1"	"MONDO:0010873"	"band heterotopia of brain"	"OMIM:600348"	"Band heterotopia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3330"	"EML1"	"OMIM:600348"	"Band heterotopia (MIM# 600348)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"31710781"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.3330"	"2021-03-09"
"GENCC_000111-HGNC_6217-OMIM_616212-HP_0000007-GENCC_100002"	"HGNC:6217"	"KATNB1"	"MONDO:0014534"	"lissencephaly 6 with microcephaly"	"OMIM:616212"	"Lissencephaly 6, with microcephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6217"	"KATNB1"	"OMIM:616212"	"Lissencephaly 6, with microcephaly, MIM# 616212"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"25521378, 25521379, 26640080"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.6217"	"2021-03-09"
"GENCC_000111-HGNC_6318-OMIM_615411-HP_0000006-GENCC_100002"	"HGNC:6318"	"KIF2A"	"MONDO:0014170"	"complex cortical dysplasia with other brain malformations 3"	"OMIM:615411"	"Cortical dysplasia, complex, with other brain malformations 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6318"	"KIF2A"	"OMIM:615411"	"Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"23603762, 27896282, 27747449, 29077851, 31919497"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.6318"	"2021-03-09"
"GENCC_000111-HGNC_6325-OMIM_615282-HP_0000006-GENCC_100002"	"HGNC:6325"	"KIF5C"	"MONDO:0014116"	"complex cortical dysplasia with other brain malformations 2"	"OMIM:615282"	"Cortical dysplasia, complex, with other brain malformations 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6325"	"KIF5C"	"OMIM:615282"	"Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"23603762, 23033978, 32562872"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.6325"	"2021-03-09"
"GENCC_000111-HGNC_6486-OMIM_615191-HP_0000007-GENCC_100002"	"HGNC:6486"	"LAMB1"	"MONDO:0014077"	"cobblestone lissencephaly without muscular or ocular involvement"	"OMIM:615191"	"Lissencephaly 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6486"	"LAMB1"	"OMIM:615191"	"Lissencephaly 5, MIM# 615191"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"23472759, 25925986, 29888467"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.6486"	"2021-03-09"
"GENCC_000111-HGNC_13664-OMIM_618325-HP_0000006-GENCC_100002"	"HGNC:13664"	"MACF1"	"MONDO:0032677"	"lissencephaly 9 with complex brainstem malformation"	"OMIM:618325"	"Lissencephaly 9 with complex brainstem malformation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13664"	"MACF1"	"OMIM:618325"	"Lissencephaly 9 with complex brainstem malformation, MIM# 618325"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"30471716"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.13664"	"2021-03-09"
"GENCC_000111-HGNC_17619-OMIM_614019-HP_0000007-GENCC_100002"	"HGNC:17619"	"NDE1"	"MONDO:0013527"	"lissencephaly 4"	"OMIM:614019"	"Lissencephaly 4 (with microcephaly)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17619"	"NDE1"	"OMIM:614019"	"Lissencephaly 4 (with microcephaly) 614019"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"30637988"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.17619"	"2021-03-09"
"GENCC_000111-HGNC_18028-OMIM_617729-HP_0000007-GENCC_100002"	"HGNC:18028"	"OSGEP"	"MONDO:0033007"	"Galloway-Mowat syndrome 3"	"OMIM:617729"	"Galloway-Mowat syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18028"	"OSGEP"	"OMIM:617729"	"Galloway-Mowat syndrome 3, MIM#617729"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:12"	"https://panelapp.agha.umccr.org/panels/15/"	""	"30558655"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.18028"	"2021-03-09"
"GENCC_000111-HGNC_8574-OMIM_607432-HP_0000006-GENCC_100002"	"HGNC:8574"	"PAFAH1B1"	"MONDO:0011830"	"lissencephaly due to LIS1 mutation"	"OMIM:607432"	"Lissencephaly 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8574"	"PAFAH1B1"	"OMIM:607432"	"Subcortical laminar heterotopia, MIM# 607432"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:13"	"https://panelapp.agha.umccr.org/panels/15/"	""	"11754098, 18285425"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.8574.2"	"2021-03-09"
"GENCC_000111-HGNC_9957-OMIM_257320-HP_0000007-GENCC_100002"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Norman-Roberts syndrome"	"OMIM:257320"	"Lissencephaly 2 (Norman-Roberts type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9957"	"RELN"	"OMIM:257320"	"Lissencephaly 2 (Norman-Roberts type), MIM# 257320"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:13"	"https://panelapp.agha.umccr.org/panels/15/"	""	"10973257, 29671837, 31805691"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.9957"	"2021-03-09"
"GENCC_000111-HGNC_11133-OMIM_609528-HP_0000007-GENCC_100002"	"HGNC:11133"	"SNAP29"	"MONDO:0012290"	"CEDNIK syndrome"	"OMIM:609528"	"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11133"	"SNAP29"	"OMIM:609528"	"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:18"	"https://panelapp.agha.umccr.org/panels/124/"	""	"15968592, 21073448"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.11133"	"2021-03-09"
"GENCC_000111-HGNC_30739-OMIM_618730-HP_0000007-GENCC_100003"	"HGNC:30739"	"TMX2"	"MONDO:0032887"	"neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"	"OMIM:618730"	"Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30739"	"TMX2"	"OMIM:618730"	"Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-01-18 13:38:13"	"https://panelapp.agha.umccr.org/panels/15/"	""	"31735293, 31586943"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.30739"	"2021-03-09"
"GENCC_000111-HGNC_20766-OMIM_611603-HP_0000006-GENCC_100002"	"HGNC:20766"	"TUBA1A"	"MONDO:0012703"	"lissencephaly due to TUBA1A mutation"	"OMIM:611603"	"Lissencephaly 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20766"	"TUBA1A"	"OMIM:611603"	"Lissencephaly 3, MIM#611603"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:13"	"https://panelapp.agha.umccr.org/panels/15/"	""	"30517687, 20466733"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.20766"	"2021-03-09"
"GENCC_000111-HGNC_18599-OMIM_257320-HP_0000007-GENCC_100002"	"HGNC:18599"	"TUBGCP2"	"MONDO:0009760"	"Norman-Roberts syndrome"	"OMIM:257320"	"Lissencephaly 2 (Norman-Roberts type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18599"	"TUBGCP2"	"OMIM:257320"	"Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, MIM#618737"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:13"	"https://panelapp.agha.umccr.org/panels/15/"	""	"31630790"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.15.18599"	"2021-03-09"
"GENCC_000111-HGNC_14637-OMIM_601277-HP_0000007-GENCC_100002"	"HGNC:14637"	"ABCA12"	"MONDO:0011026"	"autosomal recessive congenital ichthyosis 4A"	"OMIM:601277"	"Ichthyosis, congenital, autosomal recessive 4A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14637"	"ABCA12"	"OMIM:601277"	"Ichthyosis, congenital, autosomal recessive 4A (MIM#601277)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:14"	"https://panelapp.agha.umccr.org/panels/124/"	""	"31168818, 19664001, 31489029"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.14637.1"	"2021-03-09"
"GENCC_000111-HGNC_14637-OMIM_242500-HP_0000007-GENCC_100002"	"HGNC:14637"	"ABCA12"	"MONDO:0009443"	"autosomal recessive congenital ichthyosis 4B"	"OMIM:242500"	"Ichthyosis, congenital, autosomal recessive 4B (harlequin)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14637"	"ABCA12"	"OMIM:242500"	"Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:14"	"https://panelapp.agha.umccr.org/panels/124/"	""	"31168818, 19664001, 31489029"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.14637.2"	"2021-03-09"
"GENCC_000111-HGNC_21396-OMIM_275630-HP_0000007-GENCC_100002"	"HGNC:21396"	"ABHD5"	"MONDO:0010155"	"Dorfman-Chanarin disease"	"OMIM:275630"	"Chanarin-Dorfman syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21396"	"ABHD5"	"OMIM:275630"	"Chanarin-Dorfman syndrome, MIM#275630"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:14"	"https://panelapp.agha.umccr.org/panels/124/"	""	"30795549"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.21396"	"2021-03-09"
"GENCC_000111-HGNC_403-OMIM_270200-HP_0000007-GENCC_100002"	"HGNC:403"	"ALDH3A2"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"OMIM:270200"	"Sjogren-Larsson syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:403"	"ALDH3A2"	"OMIM:270200"	"Sjogren-Larsson syndrome MIM#270200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:14"	"https://panelapp.agha.umccr.org/panels/124/"	""	"31273323"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.403"	"2021-03-09"
"GENCC_000111-HGNC_430-OMIM_242100-HP_0000007-GENCC_100002"	"HGNC:430"	"ALOX12B"	"MONDO:0009439"	"autosomal recessive congenital ichthyosis 2"	"OMIM:242100"	"Ichthyosis, congenital, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:430"	"ALOX12B"	"OMIM:242100"	"Ichthyosis, congenital, autosomal recessive 2, MIM# 242100"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:14"	"https://panelapp.agha.umccr.org/panels/124/"	""	"16116617, 11773004"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.430"	"2021-03-09"
"GENCC_000111-HGNC_13743-OMIM_606545-HP_0000007-GENCC_100002"	"HGNC:13743"	"ALOXE3"	"MONDO:0011680"	"autosomal recessive congenital ichthyosis 3"	"OMIM:606545"	"Ichthyosis, congenital, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13743"	"ALOXE3"	"OMIM:606545"	"Ichthyosis, congenital, autosomal recessive 3, MIM#606545"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:14"	"https://panelapp.agha.umccr.org/panels/124/"	""	"16116617, 31046801, 26370990"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.13743"	"2021-03-09"
"GENCC_000111-HGNC_559-OMIM_609313-HP_0000007-GENCC_100002"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"OMIM:609313"	"MEDNIK syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:559"	"AP1S1"	"OMIM:609313"	"MEDNIK syndrome (MIM#609313)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:14"	"https://panelapp.agha.umccr.org/panels/124/"	""	"19057675, 23423674, 30244301"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.559"	"2021-03-09"
"GENCC_000111-HGNC_26321-OMIM_146750-HP_0000006-GENCC_100002"	"HGNC:26321"	"ASPRV1"	"MONDO:0007812"	"ichthyosis, lamellar, autosomal dominant"	"OMIM:146750"	"Ichthyosis, lamellar, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26321"	"ASPRV1"	"OMIM:146750"	"Ichthyosis, lamellar, autosomal dominant, MIM# 146750"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:15"	"https://panelapp.agha.umccr.org/panels/124/"	""	"32516568"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.26321"	"2021-03-09"
"GENCC_000111-HGNC_1502-OMIM_617320-HP_0000007-GENCC_100003"	"HGNC:1502"	"CASP14"	"MONDO:0015018"	"ichthyosis, congenital, autosomal recessive 12"	"OMIM:617320"	"Ichthyosis, congenital, autosomal recessive 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1502"	"CASP14"	"OMIM:617320"	"Ichthyosis, congenital, autosomal recessive 12 MIM#617320"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-01-20 13:38:15"	"https://panelapp.agha.umccr.org/panels/124/"	""	"27494380, 23014340, 17515931"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.1502"	"2021-03-09"
"GENCC_000111-HGNC_1802-OMIM_270300-HP_0000007-GENCC_100002"	"HGNC:1802"	"CDSN"	"MONDO:0024548"	"peeling skin syndrome 1"	"OMIM:270300"	"Peeling skin syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1802"	"CDSN"	"OMIM:270300"	"Peeling skin syndrome 1 (MIM#270300)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"23957618, 20691404, 21191406, 25473393"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.1802"	"2021-03-09"
"GENCC_000111-HGNC_23752-OMIM_615023-HP_0000007-GENCC_100002"	"HGNC:23752"	"CERS3"	"MONDO:0014010"	"autosomal recessive congenital ichthyosis 9"	"OMIM:615023"	"Ichthyosis, congenital, autosomal recessive 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23752"	"CERS3"	"OMIM:615023"	"Ichthyosis, congenital, autosomal recessive 9, MIM# 615023"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:15"	"https://panelapp.agha.umccr.org/panels/124/"	""	"23754960, 23549421, 31168818, 30578701"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.23752"	"2021-03-09"
"GENCC_000111-HGNC_2032-OMIM_607626-HP_0000007-GENCC_100002"	"HGNC:2032"	"CLDN1"	"MONDO:0011874"	"neonatal ichthyosis-sclerosing cholangitis syndrome"	"OMIM:607626"	"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2032"	"CLDN1"	"OMIM:607626"	"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:15"	"https://panelapp.agha.umccr.org/panels/124/"	""	"12164927, 11889141, 29146216"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.2032"	"2021-03-09"
"GENCC_000111-HGNC_2033-OMIM_617671-HP_0000007-GENCC_100002"	"HGNC:2033"	"CLDN10"	"MONDO:0060564"	"HELIX syndrome"	"OMIM:617671"	"HELIX syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2033"	"CLDN10"	"OMIM:617671"	"HELIX syndrome MIM#617671"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:15"	"https://panelapp.agha.umccr.org/panels/124/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.2033"	"2021-03-09"
"GENCC_000111-HGNC_2481-OMIM_607936-HP_0000007-GENCC_100002"	"HGNC:2481"	"CSTA"	"MONDO:0011937"	"peeling skin syndrome 4"	"OMIM:607936"	"Peeling skin syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2481"	"CSTA"	"OMIM:607936"	"Peeling skin syndrome 4 (MIM#607936)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:26"	"https://panelapp.agha.umccr.org/panels/101/"	""	"23534700, 25400170, 21944047"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.2481"	"2021-03-09"
"GENCC_000111-HGNC_26820-OMIM_604777-HP_0000007-GENCC_100002"	"HGNC:26820"	"CYP4F22"	"MONDO:0011485"	"autosomal recessive congenital ichthyosis 5"	"OMIM:604777"	"Ichthyosis, congenital, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26820"	"CYP4F22"	"OMIM:604777"	"Ichthyosis, congenital, autosomal recessive 5, MIM# 604777"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:16"	"https://panelapp.agha.umccr.org/panels/124/"	""	"16436457"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.26820"	"2021-03-09"
"GENCC_000111-HGNC_14418-OMIM_618527-HP_0000006-GENCC_100002"	"HGNC:14418"	"ELOVL1"	"MONDO:0032798"	"ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features"	"OMIM:618527"	"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14418"	"ELOVL1"	"OMIM:618527"	"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:16"	"https://panelapp.agha.umccr.org/panels/124/"	""	"30487246, 29496980, 23689133"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.14418"	"2021-03-09"
"GENCC_000111-HGNC_14415-OMIM_614457-HP_0000007-GENCC_100002"	"HGNC:14415"	"ELOVL4"	"MONDO:0013760"	"congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"	"OMIM:614457"	"Ichthyosis, spastic quadriplegia, and impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14415"	"ELOVL4"	"OMIM:614457"	"Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:16"	"https://panelapp.agha.umccr.org/panels/124/"	""	"22100072, 24571530"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.14415"	"2021-03-09"
"GENCC_000111-HGNC_33276-OMIM_618084-HP_0000007-GENCC_100002"	"HGNC:33276"	"FLG2"	"MONDO:0054852"	"peeling skin syndrome 6"	"OMIM:618084"	"Peeling skin syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:33276"	"FLG2"	"OMIM:618084"	"Peeling skin syndrome 6, MIM# 618084"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:16"	"https://panelapp.agha.umccr.org/panels/124/"	""	"29758285, 28884927, 29505760"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.33276"	"2021-03-09"
"GENCC_000111-HGNC_21157-OMIM_616395-HP_0000007-GENCC_100003"	"HGNC:21157"	"GTF2H5"	"MONDO:0014619"	"trichothiodystrophy 3, photosensitive"	"OMIM:616395"	"Trichothiodystrophy 3, photosensitive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21157"	"GTF2H5"	"OMIM:616395"	"Trichothiodystrophy 3, photosensitive MIM#616395"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-01-20 13:38:16"	"https://panelapp.agha.umccr.org/panels/124/"	""	"30359777, 24986372"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.21157"	"2021-03-09"
"GENCC_000111-HGNC_6412-OMIM_607602-HP_0000006-GENCC_100002"	"HGNC:6412"	"KRT1"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"OMIM:607602"	"Ichthyosis, annular epidermolytic 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6412"	"KRT1"	"OMIM:607602"	"Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:16"	"https://panelapp.agha.umccr.org/panels/124/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.6412.1"	"2021-03-09"
"GENCC_000111-HGNC_6412-OMIM_146590-HP_0000006-GENCC_100002"	"HGNC:6412"	"KRT1"	"MONDO:0007808"	"ichthyosis hystrix of Curth-Macklin"	"OMIM:146590"	"Ichthyosis histrix, Curth-Macklin type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6412"	"KRT1"	"OMIM:146590"	"Ichthyosis histrix, Curth-Macklin type, MIM# 146590"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:17"	"https://panelapp.agha.umccr.org/panels/124/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.6412.2"	"2021-03-09"
"GENCC_000111-HGNC_6413-OMIM_607602-HP_0000006-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"OMIM:607602"	"Ichthyosis, annular epidermolytic 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6413"	"KRT10"	"OMIM:607602"	"Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:17"	"https://panelapp.agha.umccr.org/panels/124/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.6413.1"	"2021-03-09"
"GENCC_000111-HGNC_6413-OMIM_609165-HP_0000006-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0012208"	"congenital reticular ichthyosiform erythroderma"	"OMIM:609165"	"Ichthyosis with confetti"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6413"	"KRT10"	"OMIM:609165"	"Ichthyosis with confetti, MIM# 609165"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:17"	"https://panelapp.agha.umccr.org/panels/124/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.6413.2"	"2021-03-09"
"GENCC_000111-HGNC_6439-OMIM_146800-HP_0000006-GENCC_100002"	"HGNC:6439"	"KRT2"	"MONDO:0007813"	"superficial epidermolytic ichthyosis"	"OMIM:146800"	"Ichthyosis bullosa of Siemens"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6439"	"KRT2"	"OMIM:146800"	"Superficial epidermolytic ichthyosis (SEI) (MIM#146800)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"26581228, 22612346"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6439"	"2021-03-09"
"GENCC_000111-HGNC_23452-OMIM_613943-HP_0000007-GENCC_100004"	"HGNC:23452"	"LIPN"	"MONDO:0013495"	"autosomal recessive congenital ichthyosis 8"	"OMIM:613943"	"Ichthyosis, congenital, autosomal recessive 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23452"	"LIPN"	"OMIM:613943"	"Ichthyosis, congenital, autosomal recessive 8, MIM# 613943"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-01-20 13:38:17"	"https://panelapp.agha.umccr.org/panels/124/"	""	"21439540"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.23452"	"2021-03-09"
"GENCC_000111-HGNC_28018-OMIM_612281-HP_0000007-GENCC_100002"	"HGNC:28018"	"NIPAL4"	"MONDO:0012847"	"autosomal recessive congenital ichthyosis 6"	"OMIM:612281"	"Ichthyosis, congenital, autosomal recessive 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:28018"	"NIPAL4"	"OMIM:612281"	"Ichthyosis, congenital, autosomal recessive 6, MIM# 612281"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:17"	"https://panelapp.agha.umccr.org/panels/124/"	""	"17557927"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.28018"	"2021-03-09"
"GENCC_000111-HGNC_21246-OMIM_615024-HP_0000007-GENCC_100002"	"HGNC:21246"	"PNPLA1"	"MONDO:0014011"	"autosomal recessive congenital ichthyosis 10"	"OMIM:615024"	"Ichthyosis, congenital, autosomal recessive 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21246"	"PNPLA1"	"OMIM:615024"	"Ichthyosis, congenital, autosomal recessive 10, MIM# 615024"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:18"	"https://panelapp.agha.umccr.org/panels/124/"	""	"22246504, 24344921, 26691440"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.21246"	"2021-03-09"
"GENCC_000111-HGNC_20330-OMIM_601952-HP_0000007-GENCC_100002"	"HGNC:20330"	"POMP"	"MONDO:0011169"	"keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"	"OMIM:601952"	"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20330"	"POMP"	"OMIM:601952"	"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:18"	"https://panelapp.agha.umccr.org/panels/124/"	""	"20226437, 27503413"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.20330"	"2021-03-09"
"GENCC_000111-HGNC_29958-OMIM_617574-HP_0000007-GENCC_100002"	"HGNC:29958"	"SDR9C7"	"MONDO:0033092"	"ichthyosis, congenital, autosomal recessive 13"	"OMIM:617574"	"Ichthyosis, congenital, autosomal recessive 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29958"	"SDR9C7"	"OMIM:617574"	"Ichthyosis, congenital, autosomal recessive 13 MIM#617574"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:18"	"https://panelapp.agha.umccr.org/panels/124/"	""	"28173123, 28369735"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.29958"	"2021-03-09"
"GENCC_000111-HGNC_8952-OMIM_617115-HP_0000007-GENCC_100003"	"HGNC:8952"	"SERPINB8"	"MONDO:0014923"	"peeling skin syndrome 5"	"OMIM:617115"	"Peeling skin syndrome 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8952"	"SERPINB8"	"OMIM:617115"	"Peeling skin syndrome 5 (MIM#617115)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-02-13 13:38:29"	"https://panelapp.agha.umccr.org/panels/101/"	""	"27476651"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.8952"	"2021-03-09"
"GENCC_000111-HGNC_10998-OMIM_608649-HP_0000007-GENCC_100002"	"HGNC:10998"	"SLC27A4"	"MONDO:0012089"	"ichthyosis prematurity syndrome"	"OMIM:608649"	"Ichthyosis prematurity syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10998"	"SLC27A4"	"OMIM:608649"	"Ichthyosis prematurity syndrome MIM#608649"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:18"	"https://panelapp.agha.umccr.org/panels/124/"	""	"12697906, 19631310, 31168818"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.10998"	"2021-03-09"
"GENCC_000111-HGNC_15464-OMIM_256500-HP_0000007-GENCC_100002"	"HGNC:15464"	"SPINK5"	"MONDO:0009735"	"Netherton syndrome"	"OMIM:256500"	"Netherton syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15464"	"SPINK5"	"OMIM:256500"	"Netherton syndrome MIM#256500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:18"	"https://panelapp.agha.umccr.org/panels/124/"	""	"10712206, 15590704, 31977080"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.15464"	"2021-03-09"
"GENCC_000111-HGNC_11289-OMIM_619016-HP_0000006-GENCC_100002"	"HGNC:11289"	"SREBF1"	"MONDO:0100221"	"IFAP syndrome 2"	"OMIM:619016"	"Ichthyosis, follicular, with atrichia and photophobia syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11289"	"SREBF1"	"OMIM:619016"	"IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:19"	"https://panelapp.agha.umccr.org/panels/124/"	""	"32497488, 31790666, 32902915"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.11289.1"	"2021-03-09"
"GENCC_000111-HGNC_11289-OMIM_158310-HP_0000006-GENCC_100002"	"HGNC:11289"	"SREBF1"	"MONDO:0008017"	"hereditary mucoepithelial dysplasia"	"OMIM:158310"	"Mucoepithelial dysplasia, hereditary"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11289"	"SREBF1"	"OMIM:158310"	"Mucoepithelial dysplasia, hereditary, MIM#158310"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:19"	"https://panelapp.agha.umccr.org/panels/124/"	""	"32497488, 31790666, 32902915"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.11289.2"	"2021-03-09"
"GENCC_000111-HGNC_11344-OMIM_602400-HP_0000007-GENCC_100002"	"HGNC:11344"	"ST14"	"MONDO:0011218"	"autosomal recessive congenital ichthyosis 11"	"OMIM:602400"	"Ichthyosis, congenital, autosomal recessive 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11344"	"ST14"	"OMIM:602400"	"Ichthyosis, congenital, autosomal recessive 11 MIM#602400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:19"	"https://panelapp.agha.umccr.org/panels/124/"	""	"17273967, 18843291, 18445049, 30982314"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.11344"	"2021-03-09"
"GENCC_000111-HGNC_11459-OMIM_617571-HP_0000007-GENCC_100002"	"HGNC:11459"	"SULT2B1"	"MONDO:0033091"	"ichthyosis, congenital, autosomal recessive 14"	"OMIM:617571"	"Ichthyosis, congenital, autosomal recessive 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11459"	"SULT2B1"	"OMIM:617571"	"Ichthyosis, congenital, autosomal recessive 14 MIM#617571"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:19"	"https://panelapp.agha.umccr.org/panels/124/"	""	"28575648"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.11459"	"2021-03-09"
"GENCC_000111-HGNC_20376-OMIM_272200-HP_0000007-GENCC_100002"	"HGNC:20376"	"SUMF1"	"MONDO:0010088"	"mucosulfatidosis"	"OMIM:272200"	"Multiple sulfatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:20376"	"SUMF1"	"OMIM:272200"	"Multiple sulfatase deficiency MIM#272200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:20"	"https://panelapp.agha.umccr.org/panels/124/"	""	"30124108, 28566233, 25222778, 24339620"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.20376"	"2021-03-09"
"GENCC_000111-HGNC_11777-OMIM_242300-HP_0000007-GENCC_100002"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"OMIM:242300"	"Ichthyosis, congenital, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11777"	"TGM1"	"OMIM:242300"	"Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-20 13:38:20"	"https://panelapp.agha.umccr.org/panels/124/"	""	"19890349, 24261627, 30302839"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.124.11777"	"2021-03-09"
"GENCC_000111-HGNC_321-OMIM_232400-HP_0000007-GENCC_100002"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"OMIM:232400"	"Glycogen storage disease IIIb"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:321"	"AGL"	"OMIM:232400"	"Glycogen storage disease IIIa and IIIb, MIM# 232400"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:20"	"https://panelapp.agha.umccr.org/panels/106/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.321"	"2021-03-09"
"GENCC_000111-HGNC_414-OMIM_611881-HP_0000007-GENCC_100002"	"HGNC:414"	"ALDOA"	"MONDO:0012747"	"glycogen storage disease due to aldolase A deficiency"	"OMIM:611881"	"Glycogen storage disease XII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:414"	"ALDOA"	"OMIM:611881"	"Glycogen storage disease XII , MIM#611881"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"7331996, 8598869, 25392908"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.414"	"2021-03-09"
"GENCC_000111-HGNC_3354-OMIM_612932-HP_0000007-GENCC_100002"	"HGNC:3354"	"ENO3"	"MONDO:0013046"	"glycogen storage disease due to muscle beta-enolase deficiency"	"OMIM:612932"	"Glycogen storage disease XIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3354"	"ENO3"	"OMIM:612932"	"Glycogen storage disease XIII, MIM#612932"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"31741825, 11506403, 18070103, 25267339"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.3354"	"2021-03-09"
"GENCC_000111-HGNC_3413-OMIM_254780-HP_0000007-GENCC_100002"	"HGNC:3413"	"EPM2A"	"MONDO:0009697"	"Lafora disease"	"OMIM:254780"	"Myoclonic epilepsy of Lafora 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3413"	"EPM2A"	"OMIM:254780"	"Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"9771710"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.3413"	"2021-03-09"
"GENCC_000111-HGNC_3606-OMIM_229700-HP_0000007-GENCC_100002"	"HGNC:3606"	"FBP1"	"MONDO:0009251"	"fructose-1,6-bisphosphatase deficiency"	"OMIM:229700"	"Fructose-1,6-bisphosphatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3606"	"FBP1"	"OMIM:229700"	"Fructose-1,6-bisphosphatase deficiency, MIM# 229700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"9382095"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.3606"	"2021-03-09"
"GENCC_000111-HGNC_4056-OMIM_232200-HP_0000007-GENCC_100002"	"HGNC:4056"	"G6PC1"	"MONDO:0009287"	"glycogen storage disease due to glucose-6-phosphatase deficiency type IA"	"OMIM:232200"	"Glycogen storage disease Ia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4056"	"G6PC"	"OMIM:232200"	"Glycogen storage disease Ia, MIM# 232200"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"8733042"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4056"	"2021-03-09"
"GENCC_000111-HGNC_4065-OMIM_232300-HP_0000007-GENCC_100002"	"HGNC:4065"	"GAA"	"MONDO:0009290"	"glycogen storage disease II"	"OMIM:232300"	"Glycogen storage disease II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4065"	"GAA"	"OMIM:232300"	"Glycogen storage disease II (MIM#232300)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"25103075, 27365701"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4065"	"2021-03-09"
"GENCC_000111-HGNC_4180-OMIM_232500-HP_0000007-GENCC_100002"	"HGNC:4180"	"GBE1"	"MONDO:0009292"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"OMIM:232500"	"Glycogen storage disease IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4180"	"GBE1"	"OMIM:232500"	"Glycogen storage disease IV, MIM# 232500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"8613547"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4180"	"2021-03-09"
"GENCC_000111-HGNC_4699-OMIM_613507-HP_0000007-GENCC_100002"	"HGNC:4699"	"GYG1"	"MONDO:0013291"	"glycogen storage disease XV"	"OMIM:613507"	"?Glycogen storage disease XV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4699"	"GYG1"	"OMIM:613507"	"Glycogen storage disease XV, MIM# 613507"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"31791869, 20357282, 27718144"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4699.1"	"2021-03-09"
"GENCC_000111-HGNC_4699-OMIM_616199-HP_0000007-GENCC_100002"	"HGNC:4699"	"GYG1"	"MONDO:0014526"	"polyglucosan body myopathy type 2"	"OMIM:616199"	"Polyglucosan body myopathy 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4699"	"GYG1"	"OMIM:616199"	"Polyglucosan body myopathy 2, MIM# 616199"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"31791869, 20357282, 27718144"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4699.2"	"2021-03-09"
"GENCC_000111-HGNC_4706-OMIM_611556-HP_0000007-GENCC_100002"	"HGNC:4706"	"GYS1"	"MONDO:0012693"	"glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"OMIM:611556"	"Glycogen storage disease 0, muscle"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4706"	"GYS1"	"OMIM:611556"	"Glycogen storage disease 0, muscle, MIM# 611556"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"17928598, 19699667, 21958591"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4706"	"2021-03-09"
"GENCC_000111-HGNC_4707-OMIM_240600-HP_0000007-GENCC_100002"	"HGNC:4707"	"GYS2"	"MONDO:0009414"	"glycogen storage disorder due to hepatic glycogen synthase deficiency"	"OMIM:240600"	"Glycogen storage disease 0, liver"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4707"	"GYS2"	"OMIM:240600"	"Glycogen storage disease 0, liver (MIM#240600)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:21"	"https://panelapp.agha.umccr.org/panels/106/"	""	"32395408, 28245189"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4707"	"2021-03-09"
"GENCC_000111-HGNC_6535-OMIM_612933-HP_0000007-GENCC_100002"	"HGNC:6535"	"LDHA"	"MONDO:0013047"	"glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"	"OMIM:612933"	"Glycogen storage disease XI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6535"	"LDHA"	"OMIM:612933"	"Glycogen storage disease XI, MIM# 612933"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:22"	"https://panelapp.agha.umccr.org/panels/106/"	""	"2334430, 1959923, 8327147"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.6535"	"2021-03-09"
"GENCC_000111-HGNC_21576-OMIM_254780-HP_0000007-GENCC_100002"	"HGNC:21576"	"NHLRC1"	"MONDO:0009697"	"Lafora disease"	"OMIM:254780"	"Myoclonic epilepsy of Lafora 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21576"	"NHLRC1"	"OMIM:254780"	"Epilepsy, progressive myoclonic 2B (Lafora) 254780"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:22"	"https://panelapp.agha.umccr.org/panels/106/"	""	"21505799, 12958597"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.21576"	"2021-03-09"
"GENCC_000111-HGNC_8877-OMIM_232800-HP_0000007-GENCC_100002"	"HGNC:8877"	"PFKM"	"MONDO:0009295"	"glycogen storage disease VII"	"OMIM:232800"	"Glycogen storage disease VII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8877"	"PFKM"	"OMIM:232800"	"Glycogen storage disease VII (MIM#232800)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:22"	"https://panelapp.agha.umccr.org/panels/106/"	""	"24427140, 27066546, 30792690"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.8877"	"2021-03-09"
"GENCC_000111-HGNC_8889-OMIM_261670-HP_0000007-GENCC_100002"	"HGNC:8889"	"PGAM2"	"MONDO:0009865"	"glycogen storage disease due to phosphoglycerate mutase deficiency"	"OMIM:261670"	"Glycogen storage disease X"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8889"	"PGAM2"	"OMIM:261670"	"Glycogen storage disease X, MIM# 261670"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:22"	"https://panelapp.agha.umccr.org/panels/106/"	""	"8447317"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.8889"	"2021-03-09"
"GENCC_000111-HGNC_8931-OMIM_613027-HP_0000007-GENCC_100002"	"HGNC:8931"	"PHKG2"	"MONDO:0013091"	"glycogen storage disease IXc"	"OMIM:613027"	"Glycogen storage disease IXc"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8931"	"PHKG2"	"OMIM:613027"	"Glycogen storage disease IXc, MIM# 613027"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:22"	"https://panelapp.agha.umccr.org/panels/106/"	""	"8896567, 9384616, 10905889"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.8931"	"2021-03-09"
"GENCC_000111-HGNC_9386-OMIM_261740-HP_0000006-GENCC_100002"	"HGNC:9386"	"PRKAG2"	"MONDO:0009867"	"lethal congenital glycogen storage disease of heart"	"OMIM:261740"	"Glycogen storage disease of heart, lethal congenital"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9386"	"PRKAG2"	"OMIM:261740"	"Glycogen storage disease of heart, lethal congenital, MIM# 261740"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:22"	"https://panelapp.agha.umccr.org/panels/106/"	""	"15877279, 17667862, 32646569"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.9386"	"2021-03-09"
"GENCC_000111-HGNC_9725-OMIM_232700-HP_0000007-GENCC_100002"	"HGNC:9725"	"PYGL"	"MONDO:0009294"	"glycogen storage disease VI"	"OMIM:232700"	"Glycogen storage disease VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9725"	"PYGL"	"OMIM:232700"	"Glycogen storage disease VI, MIM# 232700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:22"	"https://panelapp.agha.umccr.org/panels/106/"	""	"9529348, 9536091, 33505429, 32961316, 32892177"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.9725"	"2021-03-09"
"GENCC_000111-HGNC_9726-OMIM_232600-HP_0000007-GENCC_100002"	"HGNC:9726"	"PYGM"	"MONDO:0009293"	"glycogen storage disease V"	"OMIM:232600"	"McArdle disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9726"	"PYGM"	"OMIM:232600"	"McArdle disease, MIM# 232600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:23"	"https://panelapp.agha.umccr.org/panels/106/"	""	"32386344"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.9726.2"	"2021-03-09"
"GENCC_000111-HGNC_15864-OMIM_615895-HP_0000007-GENCC_100002"	"HGNC:15864"	"RBCK1"	"MONDO:0014389"	"polyglucosan body myopathy 1 with or without immunodeficiency"	"OMIM:615895"	"Polyglucosan body myopathy 1 with or without immunodeficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15864"	"RBCK1"	"OMIM:615895"	"Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:23"	"https://panelapp.agha.umccr.org/panels/106/"	""	"23798481, 23104095"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.15864"	"2021-03-09"
"GENCC_000111-HGNC_4061-OMIM_232220-HP_0000007-GENCC_100002"	"HGNC:4061"	"SLC37A4"	"MONDO:0009288"	"glycogen storage disease Ib"	"OMIM:232220"	"Glycogen storage disease Ib"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4061"	"SLC37A4"	"OMIM:232220"	"Glycogen storage disease Ib (MIM#232220)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:23"	"https://panelapp.agha.umccr.org/panels/106/"	""	"28224773, 31508908, 32005221"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4061"	"2021-03-09"
"GENCC_000111-HGNC_4061-OMIM_232240-HP_0000007-GENCC_100002"	"HGNC:4061"	"SLC37A4"	"MONDO:0009288"	"glycogen storage disease Ib"	"OMIM:232240"	"Glycogen storage disease Ic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:4061"	"SLC37A4"	"OMIM:232240"	"Glycogen storage disease Ic (MIM#232240)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:23"	"https://panelapp.agha.umccr.org/panels/106/"	""	"28224773, 31508908, 32005221"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.106.4061"	"2021-03-09"
"GENCC_000111-HGNC_1494-OMIM_613456-HP_0000007-GENCC_100002"	"HGNC:1494"	"ALX1"	"MONDO:0013271"	"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	"OMIM:613456"	"Frontonasal dysplasia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1494"	"ALX1"	"OMIM:613456"	"Frontonasal dysplasia 3, MIM#613456"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:24"	"https://panelapp.agha.umccr.org/panels/104/"	""	"27324866, 20451171, 23059813"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.104.1494"	"2021-03-09"
"GENCC_000111-HGNC_449-OMIM_136760-HP_0000007-GENCC_100002"	"HGNC:449"	"ALX3"	"MONDO:0007636"	"frontorhiny"	"OMIM:136760"	"Frontonasal dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:449"	"ALX3"	"OMIM:136760"	"Frontonasal dysplasia 1, MIM# 136760"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:24"	"https://panelapp.agha.umccr.org/panels/104/"	""	"19409524"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.104.449"	"2021-03-09"
"GENCC_000111-HGNC_29316-OMIM_603671-HP_0000006-GENCC_100002"	"HGNC:29316"	"ZSWIM6"	"MONDO:0011359"	"acromelic frontonasal dysostosis"	"OMIM:603671"	"Acromelic frontonasal dysostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29316"	"ZSWIM6"	"OMIM:603671"	"Acromelic frontonasal dysostosis, MIM# 603671"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-01-18 13:38:24"	"https://panelapp.agha.umccr.org/panels/104/"	""	"25105228, 26706854"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.104.29316"	"2021-03-09"
"GENCC_000111-HGNC_812-OMIM_124200-HP_0000006-GENCC_100002"	"HGNC:812"	"ATP2A2"	"MONDO:0007417"	"Darier disease"	"OMIM:124200"	"Darier disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:812"	"ATP2A2"	"OMIM:124200"	"Darier disease (MIM#124200)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"10441324, 17635506"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.812"	"2021-03-09"
"GENCC_000111-HGNC_13211-OMIM_169600-HP_0000006-GENCC_100002"	"HGNC:13211"	"ATP2C1"	"MONDO:0008218"	"Hailey-Hailey disease"	"OMIM:169600"	"Hailey-Hailey disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13211"	"ATP2C1"	"OMIM:169600"	"Hailey-Hailey disease (MIM# 169600)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"28551824"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.13211"	"2021-03-09"
"GENCC_000111-HGNC_1515-OMIM_616295-HP_0000007-GENCC_100002"	"HGNC:1515"	"CAST"	"MONDO:0014574"	"peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	"OMIM:616295"	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1515"	"CAST"	"OMIM:616295"	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"25683118"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.1515"	"2021-03-09"
"GENCC_000111-HGNC_2194-OMIM_122400-HP_0000006-GENCC_100002"	"HGNC:2194"	"COL17A1"	"MONDO:0007381"	"epithelial recurrent erosion dystrophy"	"OMIM:122400"	"Epithelial recurrent erosion dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2194"	"COL17A1"	"OMIM:122400"	"Epithelial recurrent erosion dystrophy, MIM# 122400"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.2194"	"2021-03-09"
"GENCC_000111-HGNC_2194-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:2194"	"COL17A1"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2194"	"COL17A1"	"OMIM:226650"	"Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.2194.2"	"2021-03-09"
"GENCC_000111-HGNC_2214-OMIM_132000-HP_0000006-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007557"	"epidermolysis bullosa with congenital localized absence of skin and deformity of nails"	"OMIM:132000"	"Epidermolysis bullosa dystrophica, Bart type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2214"	"COL7A1"	"OMIM:132000"	"EBD, Bart type MIM# 132000"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.2214"	"2021-03-09"
"GENCC_000111-HGNC_2214-OMIM_226600-HP_0000007-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"OMIM:226600"	"Epidermolysis bullosa dystrophica, localisata variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2214"	"COL7A1"	"OMIM:226600"	"Epidermolysis bullosa dystrophica, 226600"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.2214"	"2021-03-09"
"GENCC_000111-HGNC_2214-OMIM_131750-HP_0000006-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007549"	"generalized dominant dystrophic epidermolysis bullosa"	"OMIM:131750"	"Epidermolysis bullosa dystrophica, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2214"	"COL7A1"	"OMIM:131750"	"Epidermolysis bullosa dystrophica, MIM# 131750"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:25"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.2214"	"2021-03-09"
"GENCC_000111-HGNC_2482-OMIM_148370-HP_0000006-GENCC_100003"	"HGNC:2482"	"CSTB"	"MONDO:0007854"	"keratolytic winter erythema"	"OMIM:148370"	"Keratolytic winter erythema"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:2482"	"CSTB"	"OMIM:148370"	"Keratolytic winter erythema (MIM#148370)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-02-13 13:38:26"	"https://panelapp.agha.umccr.org/panels/101/"	""	"28457472"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.2482"	"2021-03-09"
"GENCC_000111-HGNC_3037-OMIM_613102-HP_0000007-GENCC_100003"	"HGNC:3037"	"DSC3"	"MONDO:0013136"	"hereditary hypotrichosis with recurrent skin vesicles"	"OMIM:613102"	"Hypotrichosis and recurrent skin vesicles"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3037"	"DSC3"	"OMIM:613102"	"Hypotrichosis and recurrent skin vesicles (MIM#  613102)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-02-13 13:38:26"	"https://panelapp.agha.umccr.org/panels/101/"	""	"19765682, 20159115, 24690439, 31790667"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.3037"	"2021-03-09"
"GENCC_000111-HGNC_3048-OMIM_148700-HP_0000006-GENCC_100003"	"HGNC:3048"	"DSG1"	"MONDO:0007859"	"palmoplantar keratoderma i, striate, focal, or diffuse"	"OMIM:148700"	"Keratosis palmoplantaris striata I, AD"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3048"	"DSG1"	"OMIM:148700"	"Keratosis palmoplantaris striata I, AD (MIM# 148700)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-02-13 13:38:26"	"https://panelapp.agha.umccr.org/panels/101/"	""	"19558595, 23974871"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.3048"	"2021-03-09"
"GENCC_000111-HGNC_3048-OMIM_615508-HP_0000007-GENCC_100003"	"HGNC:3048"	"DSG1"	"MONDO:0014218"	"severe dermatitis-multiple allergies-metabolic wasting syndrome"	"OMIM:615508"	"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3048"	"DSG1"	"OMIM:615508"	"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-02-13 13:38:26"	"https://panelapp.agha.umccr.org/panels/101/"	""	"19558595, 23974871"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.3048"	"2021-03-09"
"GENCC_000111-HGNC_3052-OMIM_609638-HP_0000007-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0012323"	"lethal acantholytic epidermolysis bullosa"	"OMIM:609638"	"Epidermolysis bullosa, lethal acantholytic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:3052"	"DSP"	"OMIM:609638"	"Epidermolysis bullosa, lethal acantholytic, MIM# 609638"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:27"	"https://panelapp.agha.umccr.org/panels/101/"	""	"16175511, 20302578, 20302578, 28442525, 20613772, 20302578"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.3052"	"2021-03-09"
"GENCC_000111-HGNC_1090-OMIM_615425-HP_0000007-GENCC_100002"	"HGNC:1090"	"DST"	"MONDO:0014180"	"epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"	"OMIM:615425"	"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1090"	"DST"	"OMIM:615425"	"Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:27"	"https://panelapp.agha.umccr.org/panels/101/"	""	"20164846, 22113475, 33471381"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.1090"	"2021-03-09"
"GENCC_000111-HGNC_30578-OMIM_615028-HP_0000007-GENCC_100002"	"HGNC:30578"	"EXPH5"	"MONDO:0014014"	"epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"OMIM:615028"	"Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30578"	"EXPH5"	"OMIM:615028"	"Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:27"	"https://panelapp.agha.umccr.org/panels/101/"	""	"23176819, 32176379, 27730671, 27384765"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.30578"	"2021-03-09"
"GENCC_000111-HGNC_15889-OMIM_173650-HP_0000007-GENCC_100002"	"HGNC:15889"	"FERMT1"	"MONDO:0008260"	"Kindler syndrome"	"OMIM:173650"	"Kindler syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15889"	"FERMT1"	"OMIM:173650"	"Kindler syndrome, MIM# 173650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:27"	"https://panelapp.agha.umccr.org/panels/101/"	""	"12789646"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.15889"	"2021-03-09"
"GENCC_000111-HGNC_6139-OMIM_614748-HP_0000007-GENCC_100002"	"HGNC:6139"	"ITGA3"	"MONDO:0013881"	"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"OMIM:614748"	"Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6139"	"ITGA3"	"OMIM:614748"	"Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:27"	"https://panelapp.agha.umccr.org/panels/101/"	""	"22512483, 25810266, 27717396, 32198874, 26854491"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6139"	"2021-03-09"
"GENCC_000111-HGNC_6142-OMIM_226730-HP_0000007-GENCC_100002"	"HGNC:6142"	"ITGA6"	"MONDO:0009183"	"junctional epidermolysis bullosa with pyloric atresia"	"OMIM:226730"	"Epidermolysis bullosa, junctional 5B, with pyloric atresia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6142"	"ITGA6"	"OMIM:226730"	"Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:27"	"https://panelapp.agha.umccr.org/panels/101/"	""	"31502654, 27607025, 9158140"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6142"	"2021-03-09"
"GENCC_000111-HGNC_6207-OMIM_601214-HP_0000007-GENCC_100003"	"HGNC:6207"	"JUP"	"MONDO:0011017"	"Naxos disease"	"OMIM:601214"	"Naxos disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6207"	"JUP"	"OMIM:601214"	"Naxos disease MIM#601214"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-02-13 13:38:27"	"https://panelapp.agha.umccr.org/panels/101/"	""	"21320868, 29173316"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6207"	"2021-03-09"
"GENCC_000111-HGNC_25947-OMIM_617294-HP_0000006-GENCC_100002"	"HGNC:25947"	"KLHL24"	"MONDO:0015006"	"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"	"OMIM:617294"	"Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25947"	"KLHL24"	"OMIM:617294"	"Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"27889062, 27798626"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.25947"	"2021-03-09"
"GENCC_000111-HGNC_6412-OMIM_113800-HP_0000006-GENCC_100002"	"HGNC:6412"	"KRT1"	"MONDO:0007239"	"epidermolytic ichthyosis"	"OMIM:113800"	"Epidermolytic hyperkeratosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6412"	"KRT1"	"OMIM:113800"	"Epidermolytic hyperkeratosis MIM#113800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"7511022, 21271994"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6412"	"2021-03-09"
"GENCC_000111-HGNC_6413-OMIM_113800-HP_0000006-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0007239"	"epidermolytic ichthyosis"	"OMIM:113800"	"Epidermolytic hyperkeratosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6413"	"KRT10"	"OMIM:113800"	"Epidermolytic hyperkeratosis MIM#113800"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"1380725, 1381287, 7508181, 20798280, 16505000, 18219278, 19474805"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6413"	"2021-03-09"
"GENCC_000111-HGNC_6413-OMIM_113800-HP_0000007-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0007239"	"epidermolytic ichthyosis"	"OMIM:113800"	"Epidermolytic hyperkeratosis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6413"	"KRT10"	"OMIM:113800"	"Epidermolytic hyperkeratosis (MIM#113800)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"1380725, 1381287, 7508181, 20798280, 16505000, 18219278, 19474805"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6413"	"2021-03-09"
"GENCC_000111-HGNC_6442-OMIM_131960-HP_0000006-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0007556"	"epidermolysis bullosa simplex 2F, with mottled pigmentation"	"OMIM:131960"	"Epidermolysis bullosa simplex 2F, with mottled pigmentation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6442"	"KRT5"	"OMIM:131960"	"Epidermolysis bullosa simplex-MP 131960"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6442"	"2021-03-09"
"GENCC_000111-HGNC_6442-OMIM_601001-HP_0000007-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0010976"	"epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	"OMIM:601001"	"Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6442"	"KRT5"	"OMIM:601001"	"Epidermolysis bullosa simplex, recessive 1, MIM# 601001"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6442"	"2021-03-09"
"GENCC_000111-HGNC_6483-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:6483"	"LAMA3"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6483"	"LAMA3"	"OMIM:226650"	"Epidermolysis bullosa, generalized atrophic benign, MIM# 226650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"7633458, 8530087, 11810295, 10366601"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6483.1"	"2021-03-09"
"GENCC_000111-HGNC_6483-OMIM_226700-HP_0000007-GENCC_100002"	"HGNC:6483"	"LAMA3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6483"	"LAMA3"	"OMIM:226700"	"Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"7633458, 8530087, 11810295, 10366601"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6483.2"	"2021-03-09"
"GENCC_000111-HGNC_6490-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:6490"	"LAMB3"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6490"	"LAMB3"	"OMIM:226650"	"Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"11023379, 7706760"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6490"	"2021-03-09"
"GENCC_000111-HGNC_6493-OMIM_226700-HP_0000007-GENCC_100002"	"HGNC:6493"	"LAMC2"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6493"	"LAMC2"	"OMIM:226700"	"Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:28"	"https://panelapp.agha.umccr.org/panels/101/"	""	"11810295, 25888738, 24533970"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6493.1"	"2021-03-09"
"GENCC_000111-HGNC_6493-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:6493"	"LAMC2"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6493"	"LAMC2"	"OMIM:226650"	"Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:29"	"https://panelapp.agha.umccr.org/panels/101/"	""	"11810295, 25888738, 24533970"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.6493.2"	"2021-03-09"
"GENCC_000111-HGNC_9023-OMIM_604536-HP_0000007-GENCC_100002"	"HGNC:9023"	"PKP1"	"MONDO:0011472"	"epidermolysis bullosa simplex due to plakophilin deficiency"	"OMIM:604536"	"Ectodermal dysplasia/skin fragility syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9023"	"PKP1"	"OMIM:604536"	"Ectodermal dysplasia/skin fragility syndrome, MIM# 604536"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:29"	"https://panelapp.agha.umccr.org/panels/101/"	""	"24073657, 16781314, 11994137, 10951270, 32346906"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.9023"	"2021-03-09"
"GENCC_000111-HGNC_9069-OMIM_131950-HP_0000006-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0007555"	"epidermolysis bullosa simplex 5A, Ogna type"	"OMIM:131950"	"Epidermolysis bullosa simplex 5A, Ogna type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9069"	"PLEC"	"OMIM:131950"	"Epidermolysis bullosa simplex, Ogna type, MIM# 131950"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:29"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.9069"	"2021-03-09"
"GENCC_000111-HGNC_9069-OMIM_616487-HP_0000007-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0014661"	"epidermolysis bullosa simplex with nail dystrophy"	"OMIM:616487"	"?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9069"	"PLEC"	"OMIM:616487"	"Epidermolysis bullosa simplex with nail dystrophy 616487 "	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:29"	"https://panelapp.agha.umccr.org/panels/101/"	""	"0"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.9069"	"2021-03-09"
"GENCC_000111-HGNC_11781-OMIM_609796-HP_0000007-GENCC_100002"	"HGNC:11781"	"TGM5"	"MONDO:0012345"	"acral peeling skin syndrome"	"OMIM:609796"	"Peeling skin syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11781"	"TGM5"	"OMIM:609796"	"Peeling skin syndrome 2, MIM# 609796"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-02-13 13:38:29"	"https://panelapp.agha.umccr.org/panels/101/"	""	"16380904"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.101.11781"	"2021-03-09"
"GENCC_000111-HGNC_10306-OMIM_615550-HP_0000006-GENCC_100002"	"HGNC:10306"	"RPL15"	"MONDO:0014245"	"Diamond-Blackfan anemia 12"	"OMIM:615550"	"Diamond-Blackfan anemia 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10306"	"RPL15"	"OMIM:615550"	"Diamond-Blackfan anemia 12, MIM# 615550"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:30"	"https://panelapp.agha.umccr.org/panels/98/"	""	"23812780, 29599205"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10306"	"2021-03-09"
"GENCC_000111-HGNC_10310-OMIM_618310-HP_0000006-GENCC_100003"	"HGNC:10310"	"RPL18"	"MONDO:0032668"	"Diamond-Blackfan anemia 18"	"OMIM:618310"	"?Diamond-Blackfan anemia 18"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10310"	"RPL18"	"OMIM:618310"	"Diamond-Blackfan anemia 18, MIM# 618310"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-06 13:38:31"	"https://panelapp.agha.umccr.org/panels/98/"	""	"28280134, 32075953"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10310"	"2021-03-09"
"GENCC_000111-HGNC_10327-OMIM_614900-HP_0000006-GENCC_100004"	"HGNC:10327"	"RPL26"	"MONDO:0013964"	"Diamond-Blackfan anemia 11"	"OMIM:614900"	"?Diamond-Blackfan anemia 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10327"	"RPL26"	"OMIM:614900"	"Diamond-Blackfan anemia 11, MIM# 614900"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-03-06 13:38:31"	"https://panelapp.agha.umccr.org/panels/98/"	""	"22431104"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10327"	"2021-03-09"
"GENCC_000111-HGNC_10328-OMIM_617408-HP_0000006-GENCC_100004"	"HGNC:10328"	"RPL27"	"MONDO:0044309"	"Diamond-Blackfan anemia 16"	"OMIM:617408"	"?Diamond-Blackfan anemia 16"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10328"	"RPL27"	"OMIM:617408"	"Diamond-Blackfan anemia 16, MIM# 617408"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-03-06 13:38:31"	"https://panelapp.agha.umccr.org/panels/98/"	""	"25424902"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10328"	"2021-03-09"
"GENCC_000111-HGNC_10344-OMIM_618312-HP_0000006-GENCC_100004"	"HGNC:10344"	"RPL35"	"MONDO:0032669"	"Diamond-Blackfan anemia 19"	"OMIM:618312"	"?Diamond-Blackfan anemia 19"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10344"	"RPL35"	"OMIM:618312"	"Diamond-Blackfan anemia 19, MIM# 618312"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-03-06 13:38:32"	"https://panelapp.agha.umccr.org/panels/98/"	""	"28280134"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10344"	"2021-03-09"
"GENCC_000111-HGNC_10345-OMIM_612528-HP_0000006-GENCC_100002"	"HGNC:10345"	"RPL35A"	"MONDO:0012925"	"Diamond-Blackfan anemia 5"	"OMIM:612528"	"Diamond-Blackfan anemia 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10345"	"RPL35A"	"OMIM:612528"	"Diamond-Blackfan anemia 5, MIM# 612528"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:32"	"https://panelapp.agha.umccr.org/panels/98/"	""	"18535205, 32241839"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10345"	"2021-03-09"
"GENCC_000111-HGNC_10383-OMIM_613308-HP_0000006-GENCC_100002"	"HGNC:10383"	"RPS10"	"MONDO:0013216"	"Diamond-Blackfan anemia 9"	"OMIM:613308"	"Diamond-Blackfan anemia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10383"	"RPS10"	"OMIM:613308"	"Diamond-Blackfan anemia 9, MIM# 613308"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:33"	"https://panelapp.agha.umccr.org/panels/98/"	""	"20116044, 23718193, 25946618"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10383"	"2021-03-09"
"GENCC_000111-HGNC_10389-OMIM_618313-HP_0000006-GENCC_100004"	"HGNC:10389"	"RPS15A"	"MONDO:0032670"	"Diamond-Blackfan anemia 20"	"OMIM:618313"	"?Diamond-Blackfan anemia 20"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10389"	"RPS15A"	"OMIM:618313"	"Diamond-Blackfan anemia 20, MIM# 618313"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-03-06 13:38:34"	"https://panelapp.agha.umccr.org/panels/98/"	""	"27909223"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10389"	"2021-03-09"
"GENCC_000111-HGNC_10397-OMIM_612527-HP_0000006-GENCC_100002"	"HGNC:10397"	"RPS17"	"MONDO:0012924"	"Diamond-Blackfan anemia 4"	"OMIM:612527"	"Diamond-Blackfan anemia 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10397"	"RPS17"	"OMIM:612527"	"Diamond-Blackfan anemia 4, MIM# 612527"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-06 13:38:34"	"https://panelapp.agha.umccr.org/panels/98/"	""	"17647292, 19061985, 23812780, 23718193"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10397"	"2021-03-09"
"GENCC_000111-HGNC_10416-OMIM_617409-HP_0000006-GENCC_100004"	"HGNC:10416"	"RPS27"	"MONDO:0044310"	"Diamond-Blackfan anemia 17"	"OMIM:617409"	"?Diamond-Blackfan anemia 17"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10416"	"RPS27"	"OMIM:617409"	"Diamond-Blackfan anemia 17, MIM# 617409"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-03-06 13:38:36"	"https://panelapp.agha.umccr.org/panels/98/"	""	"25424902"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10416"	"2021-03-09"
"GENCC_000111-HGNC_10418-OMIM_606164-HP_0000006-GENCC_100003"	"HGNC:10418"	"RPS28"	"MONDO:0011639"	"Diamond-Blackfan anemia 15 with mandibulofacial dysostosis"	"OMIM:606164"	"Diamond Blackfan anemia 15 with mandibulofacial dysostosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10418"	"RPS28"	"OMIM:606164"	"Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-06 13:38:36"	"https://panelapp.agha.umccr.org/panels/98/"	""	"24942156"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10418"	"2021-03-09"
"GENCC_000111-HGNC_10419-OMIM_615909-HP_0000006-GENCC_100003"	"HGNC:10419"	"RPS29"	"MONDO:0014394"	"Diamond-Blackfan anemia 13"	"OMIM:615909"	"Diamond-Blackfan anemia 13"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:10419"	"RPS29"	"OMIM:615909"	"Diamond-Blackfan anemia 13, MIM# 615909"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-06 13:38:36"	"https://panelapp.agha.umccr.org/panels/98/"	""	"24829207"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.98.10419"	"2021-03-09"
"GENCC_000111-HGNC_469-OMIM_615809-HP_0000007-GENCC_100002"	"HGNC:469"	"AMPD2"	"MONDO:0014351"	"pontocerebellar hypoplasia type 9"	"OMIM:615809"	"Pontocerebellar hypoplasia, type 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:469"	"AMPD2"	"OMIM:615809"	"Pontocerebellar hypoplasia, type 9, MIM# 615809"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:37"	"https://panelapp.agha.umccr.org/panels/72/"	""	"23911318, 27066553"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.469"	"2021-03-09"
"GENCC_000111-HGNC_25567-OMIM_618810-HP_0000007-GENCC_100002"	"HGNC:25567"	"ATAD3A"	"MONDO:0032931"	"pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"OMIM:618810"	"Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25567"	"ATAD3A"	"OMIM:618810"	"Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:38"	"https://panelapp.agha.umccr.org/panels/72/"	""	"28549128"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.25567"	"2021-03-09"
"GENCC_000111-HGNC_13221-OMIM_617101-HP_0000006-GENCC_100002"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"Dias-Logan syndrome"	"OMIM:617101"	"Dias-Logan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:13221"	"BCL11A"	"OMIM:617101"	"Dias-Logan syndrome, MIM# 617101"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:38"	"https://panelapp.agha.umccr.org/panels/72/"	""	"27453576, 25979662"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.13221"	"2021-03-09"
"GENCC_000111-HGNC_11551-OMIM_616202-HP_0000007-GENCC_100002"	"HGNC:11551"	"BRF1"	"MONDO:0014529"	"cerebellar-facial-dental syndrome"	"OMIM:616202"	"Cerebellofaciodental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11551"	"BRF1"	"OMIM:616202"	"Cerebellofaciodental syndrome, MIM# 616202"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:38"	"https://panelapp.agha.umccr.org/panels/72/"	""	"25561519, 25561519, 27748960"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.11551"	"2021-03-09"
"GENCC_000111-HGNC_1382-OMIM_613227-HP_0000007-GENCC_100002"	"HGNC:1382"	"CA8"	"MONDO:0013188"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3"	"OMIM:613227"	"Spinocerebellar ataxia, autosomal recessive 34"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1382"	"CA8"	"OMIM:613227"	"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:38"	"https://panelapp.agha.umccr.org/panels/72/"	""	"31693170, 19461874, 23087022"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.1382"	"2021-03-09"
"GENCC_000111-HGNC_1394-OMIM_618087-HP_0000006-GENCC_100002"	"HGNC:1394"	"CACNA1G"	"MONDO:0060758"	"spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	"OMIM:618087"	"Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1394"	"CACNA1G"	"OMIM:618087"	"Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits  618087"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:38"	"https://panelapp.agha.umccr.org/panels/72/"	""	"29878067, 31217264, 26456284"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.1394"	"2021-03-09"
"GENCC_000111-HGNC_1161-OMIM_236500-HP_0000007-GENCC_100003"	"HGNC:1161"	"CEP55"	"MONDO:0009359"	"multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"	"OMIM:236500"	"Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1161"	"CEP55"	"OMIM:236500"	"Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-01 13:38:39"	"https://panelapp.agha.umccr.org/panels/72/"	""	"28264986, 32100459, 28295209"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.1161"	"2021-03-09"
"GENCC_000111-HGNC_8740-OMIM_614961-HP_0000007-GENCC_100002"	"HGNC:8740"	"CHMP1A"	"MONDO:0013990"	"pontocerebellar hypoplasia type 8"	"OMIM:614961"	"Pontocerebellar hypoplasia, type 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8740"	"CHMP1A"	"OMIM:614961"	"Pontocerebellar hypoplasia, type 8, MIM# 614961"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:39"	"https://panelapp.agha.umccr.org/panels/72/"	""	"23023333"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.8740"	"2021-03-09"
"GENCC_000111-HGNC_16999-OMIM_615803-HP_0000007-GENCC_100002"	"HGNC:16999"	"CLP1"	"MONDO:0014349"	"pontocerebellar hypoplasia type 10"	"OMIM:615803"	"Pontocerebellar hypoplasia, type 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16999"	"CLP1"	"OMIM:615803"	"Pontocerebellar hypoplasia, type 10, MIM# 615803"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:39"	"https://panelapp.agha.umccr.org/panels/72/"	""	"24766809, 29307788"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.16999"	"2021-03-09"
"GENCC_000111-HGNC_29932-OMIM_618266-HP_0000007-GENCC_100003"	"HGNC:29932"	"COASY"	"MONDO:0032643"	"pontocerebellar hypoplasia, type 12"	"OMIM:618266"	"Pontocerebellar hypoplasia, type 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:29932"	"COASY"	"OMIM:618266"	"Pontocerebellar hypoplasia, type 12, MIM#618266"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-01 13:38:40"	"https://panelapp.agha.umccr.org/panels/72/"	""	"30089828, 27021474, 24360804"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.29932"	"2021-03-09"
"GENCC_000111-HGNC_17944-OMIM_614678-HP_0000007-GENCC_100002"	"HGNC:17944"	"EXOSC3"	"MONDO:0013853"	"pontocerebellar hypoplasia type 1B"	"OMIM:614678"	"Pontocerebellar hypoplasia, type 1B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17944"	"EXOSC3"	"OMIM:614678"	"Pontocerebellar hypoplasia, type 1B, MIM# 614678"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:40"	"https://panelapp.agha.umccr.org/panels/72/"	""	"22544365, 23284067, 24524299"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.17944"	"2021-03-09"
"GENCC_000111-HGNC_17035-OMIM_616081-HP_0000007-GENCC_100002"	"HGNC:17035"	"EXOSC8"	"MONDO:0014485"	"pontocerebellar hypoplasia, type 1C"	"OMIM:616081"	"Pontocerebellar hypoplasia, type 1C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:17035"	"EXOSC8"	"OMIM:616081"	"Pontocerebellar hypoplasia, type 1C, MIM# 616081"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:41"	"https://panelapp.agha.umccr.org/panels/72/"	""	"24989451"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.17035"	"2021-03-09"
"GENCC_000111-HGNC_9137-OMIM_618065-HP_0000007-GENCC_100003"	"HGNC:9137"	"EXOSC9"	"MONDO:0054844"	"pontocerebellar hypoplasia, type 1D"	"OMIM:618065"	"Pontocerebellar hypoplasia, type 1D"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9137"	"EXOSC9"	"OMIM:618065"	"Pontocerebellar hypoplasia, type 1D 618065"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-01 13:38:41"	"https://panelapp.agha.umccr.org/panels/72/"	""	"29727687, 30690203"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.9137"	"2021-03-09"
"GENCC_000111-HGNC_18270-OMIM_600092-HP_0000007-GENCC_100003"	"HGNC:18270"	"HHAT"	"MONDO:0010814"	"chondrodysplasia-pseudohermaphroditism syndrome"	"OMIM:600092"	"Nivelon-Nivelon-Mabille syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:18270"	"HHAT"	"OMIM:600092"	"Nivelon-Nivelon-Mabille syndrome 600092"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-01 13:38:41"	"https://panelapp.agha.umccr.org/panels/72/"	""	"24784881, 30912300"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.18270"	"2021-03-09"
"GENCC_000111-HGNC_26048-OMIM_618572-HP_0000007-GENCC_100004"	"HGNC:26048"	"INTS8"	"MONDO:0032818"	"neurodevelopmental disorder with cerebellar hypoplasia and spasticity"	"OMIM:618572"	"?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26048"	"INTS8"	"OMIM:618572"	"Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-03-01 13:38:42"	"https://panelapp.agha.umccr.org/panels/72/"	""	"28542170"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.26048"	"2021-03-09"
"GENCC_000111-HGNC_6235-OMIM_605259-HP_0000006-GENCC_100003"	"HGNC:6235"	"KCNC3"	"MONDO:0011529"	"spinocerebellar ataxia type 13"	"OMIM:605259"	"Spinocerebellar ataxia 13"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6235"	"KCNC3"	"OMIM:605259"	"Spinocerebellar ataxia 13, MIM# 605259"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-01 13:38:42"	"https://panelapp.agha.umccr.org/panels/72/"	""	"16501573, 25497598, 25981959"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.6235"	"2021-03-09"
"GENCC_000111-HGNC_26953-OMIM_617822-HP_0000007-GENCC_100002"	"HGNC:26953"	"BLTP1"	"MONDO:0060631"	"Alkuraya-Kucinskas syndrome"	"OMIM:617822"	"Alkuraya-Kucinskas syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26953"	"KIAA1109"	"OMIM:617822"	"Alkuraya-Kucinskas syndrome, MIM# 617822"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:42"	"https://panelapp.agha.umccr.org/panels/72/"	""	"29290337, 30906834"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.26953"	"2021-03-09"
"GENCC_000111-HGNC_6757-OMIM_618479-HP_0000007-GENCC_100002"	"HGNC:6757"	"MAB21L1"	"MONDO:0032774"	"cerebellar, ocular, craniofacial, and genital syndrome"	"OMIM:618479"	"Cerebellar, ocular, craniofacial, and genital syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:6757"	"MAB21L1"	"OMIM:618479"	"Cerebellar, ocular, craniofacial, and genital syndrome 618479"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:42"	"https://panelapp.agha.umccr.org/panels/72/"	""	"30487245"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.6757"	"2021-03-09"
"GENCC_000111-HGNC_19034-OMIM_618273-HP_0000006-GENCC_100002"	"HGNC:19034"	"MAST1"	"MONDO:0032648"	"mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"	"OMIM:618273"	"Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:19034"	"MAST1"	"OMIM:618273"	"Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:42"	"https://panelapp.agha.umccr.org/panels/72/"	""	"30449657"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.19034"	"2021-03-09"
"GENCC_000111-HGNC_15822-OMIM_213000-HP_0000007-GENCC_100002"	"HGNC:15822"	"OXR1"	"MONDO:0008939"	"isolated cerebellar hypoplasia/agenesis"	"OMIM:213000"	"Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15822"	"OXR1"	"OMIM:213000"	"Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:43"	"https://panelapp.agha.umccr.org/panels/72/"	""	"31785787"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.15822"	"2021-03-09"
"GENCC_000111-HGNC_8983-OMIM_616531-HP_0000007-GENCC_100003"	"HGNC:8983"	"PI4KA"	"MONDO:0014679"	"polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"	"OMIM:616531"	"Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:8983"	"PI4KA"	"OMIM:616531"	"Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-01 13:38:44"	"https://panelapp.agha.umccr.org/panels/72/"	""	"25855803"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.8983"	"2021-03-09"
"GENCC_000111-HGNC_23734-OMIM_609069-HP_0000007-GENCC_100002"	"HGNC:23734"	"PTF1A"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"OMIM:609069"	"Pancreatic and cerebellar agenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:23734"	"PTF1A"	"OMIM:609069"	"Pancreatic and cerebellar agenesis, MIM# 609069"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:44"	"https://panelapp.agha.umccr.org/panels/72/"	""	"21749365, 10507728, 15543146, 19650412"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.23734"	"2021-03-09"
"GENCC_000111-HGNC_9761-OMIM_617807-HP_0000006-GENCC_100003"	"HGNC:9761"	"RAB11B"	"MONDO:0060624"	"neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"OMIM:617807"	"Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000111"	"PanelApp Australia"	"HGNC:9761"	"RAB11B"	"OMIM:617807"	"Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-01 13:38:44"	"https://panelapp.agha.umccr.org/panels/72/"	""	"29106825"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.9761"	"2021-03-09"
"GENCC_000111-HGNC_21406-OMIM_611523-HP_0000007-GENCC_100002"	"HGNC:21406"	"RARS2"	"MONDO:0012683"	"pontocerebellar hypoplasia type 6"	"OMIM:611523"	"Pontocerebellar hypoplasia, type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:21406"	"RARS2"	"OMIM:611523"	"Pontocerebellar hypoplasia, type 6, MIM# 611523"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:45"	"https://panelapp.agha.umccr.org/panels/72/"	""	"17847012, 20635367, 25809939"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.21406"	"2021-03-09"
"GENCC_000111-HGNC_30605-OMIM_613811-HP_0000007-GENCC_100002"	"HGNC:30605"	"SEPSECS"	"MONDO:0013438"	"pontocerebellar hypoplasia type 2D"	"OMIM:613811"	"Pontocerebellar hypoplasia type 2D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:30605"	"SEPSECS"	"OMIM:613811"	"Pontocerebellar hypoplasia type 2D, MIM# 613811"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:45"	"https://panelapp.agha.umccr.org/panels/72/"	""	"20920667, 25044680, 31748115, 29464431"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.30605"	"2021-03-09"
"GENCC_000111-HGNC_14977-OMIM_616354-HP_0000007-GENCC_100002"	"HGNC:14977"	"SNX14"	"MONDO:0014601"	"autosomal recessive spinocerebellar ataxia 20"	"OMIM:616354"	"Spinocerebellar ataxia, autosomal recessive 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:14977"	"SNX14"	"OMIM:616354"	"Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:45"	"https://panelapp.agha.umccr.org/panels/72/"	""	"25439728, 24501761, 25848753"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.14977"	"2021-03-09"
"GENCC_000111-HGNC_11276-OMIM_615386-HP_0000007-GENCC_100002"	"HGNC:11276"	"SPTBN2"	"MONDO:0014159"	"autosomal recessive spinocerebellar ataxia 14"	"OMIM:615386"	"Spinocerebellar ataxia, autosomal recessive 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:11276"	"SPTBN2"	"OMIM:615386"	"Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:46"	"https://panelapp.agha.umccr.org/panels/72/"	""	"23236289, 23838597, 22781464, 33318253"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.11276"	"2021-03-09"
"GENCC_000111-HGNC_25622-OMIM_617695-HP_0000007-GENCC_100002"	"HGNC:25622"	"TBC1D23"	"MONDO:0054669"	"pontocerebellar hypoplasia, type 11"	"OMIM:617695"	"Pontocerebellar hypoplasia, type 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25622"	"TBC1D23"	"OMIM:617695"	"Pontocerebellar hypoplasia, type 11, MIM# 617695"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:46"	"https://panelapp.agha.umccr.org/panels/72/"	""	"28823707, 28823706"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.25622"	"2021-03-09"
"GENCC_000111-HGNC_15954-OMIM_614969-HP_0000007-GENCC_100002"	"HGNC:15954"	"TOE1"	"MONDO:0013993"	"pontocerebellar hypoplasia type 7"	"OMIM:614969"	"Pontocerebellar hypoplasia, type 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15954"	"TOE1"	"OMIM:614969"	"Pontocerebellar hypoplasia, type 7, MIM# 614969"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:46"	"https://panelapp.agha.umccr.org/panels/72/"	""	"28092684"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.15954"	"2021-03-09"
"GENCC_000111-HGNC_16791-OMIM_617026-HP_0000007-GENCC_100002"	"HGNC:16791"	"TSEN15"	"MONDO:0014874"	"pontocerebellar hypoplasia, type 2F"	"OMIM:617026"	"Pontocerebellar hypoplasia, type 2F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:16791"	"TSEN15"	"OMIM:617026"	"Pontocerebellar hypoplasia, type 2F, MIM# 617026"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:46"	"https://panelapp.agha.umccr.org/panels/72/"	""	"25558065, 27392077"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.16791"	"2021-03-09"
"GENCC_000111-HGNC_28422-OMIM_612389-HP_0000007-GENCC_100002"	"HGNC:28422"	"TSEN2"	"MONDO:0012890"	"pontocerebellar hypoplasia type 2B"	"OMIM:612389"	"Pontocerebellar hypoplasia type 2B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:28422"	"TSEN2"	"OMIM:612389"	"Pontocerebellar hypoplasia type 2B, MIM# 612389"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:47"	"https://panelapp.agha.umccr.org/panels/72/"	""	"23562994, 20952379"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.28422"	"2021-03-09"
"GENCC_000111-HGNC_15506-OMIM_612390-HP_0000007-GENCC_100004"	"HGNC:15506"	"TSEN34"	"MONDO:0012891"	"pontocerebellar hypoplasia type 2C"	"OMIM:612390"	"?Pontocerebellar hypoplasia type 2C"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:15506"	"TSEN34"	"OMIM:612390"	"Pontocerebellar hypoplasia type 2C, MIM# 612390"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100004"	"Limited"	"2021-03-01 13:38:47"	"https://panelapp.agha.umccr.org/panels/72/"	""	"18711368"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.15506"	"2021-03-09"
"GENCC_000111-HGNC_27561-OMIM_277470-HP_0000007-GENCC_100002"	"HGNC:27561"	"TSEN54"	"MONDO:0010190"	"pontocerebellar hypoplasia type 2A"	"OMIM:277470"	"Pontocerebellar hypoplasia type 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:27561"	"TSEN54"	"OMIM:277470"	"Pontocerebellar hypoplasia type 2A, MIM# 277470"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:48"	"https://panelapp.agha.umccr.org/panels/72/"	""	"18711368, 20956791, 20952379"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.27561.1"	"2021-03-09"
"GENCC_000111-HGNC_27561-OMIM_225753-HP_0000007-GENCC_100002"	"HGNC:27561"	"TSEN54"	"MONDO:0009166"	"pontocerebellar hypoplasia type 4"	"OMIM:225753"	"Pontocerebellar hypoplasia type 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:27561"	"TSEN54"	"OMIM:225753"	"Pontocerebellar hypoplasia type 4, MIM# 225753"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:48"	"https://panelapp.agha.umccr.org/panels/72/"	""	"18711368, 20956791, 20952379"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.27561.2"	"2021-03-09"
"GENCC_000111-HGNC_12698-OMIM_224050-HP_0000007-GENCC_100002"	"HGNC:12698"	"VLDLR"	"MONDO:0024542"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"	"OMIM:224050"	"Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12698"	"VLDLR"	"OMIM:224050"	"Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:48"	"https://panelapp.agha.umccr.org/panels/72/"	""	"16080122, 18326629"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.12698"	"2021-03-09"
"GENCC_000111-HGNC_1172-OMIM_618606-HP_0000007-GENCC_100003"	"HGNC:1172"	"VPS51"	"MONDO:0032831"	"pontocerebellar hypoplasia, type 13"	"OMIM:618606"	"Pontocerebellar hypoplasia, type 13"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:1172"	"VPS51"	"OMIM:618606"	"Pontocerebellar hypoplasia, type 13, MIM# 618606"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100003"	"Moderate"	"2021-03-01 13:38:49"	"https://panelapp.agha.umccr.org/panels/72/"	""	"30624672, 31207318"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.1172"	"2021-03-09"
"GENCC_000111-HGNC_25608-OMIM_615851-HP_0000007-GENCC_100002"	"HGNC:25608"	"VPS53"	"MONDO:0014370"	"pontocerebellar hypoplasia type 2E"	"OMIM:615851"	"Pontocerebellar hypoplasia, type 2E"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:25608"	"VPS53"	"OMIM:615851"	"Pontocerebellar hypoplasia, type 2E, MIM# 615851"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:49"	"https://panelapp.agha.umccr.org/panels/72/"	""	"24577744, 30100179"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.25608"	"2021-03-09"
"GENCC_000111-HGNC_12718-OMIM_607596-HP_0000007-GENCC_100002"	"HGNC:12718"	"VRK1"	"MONDO:0011866"	"pontocerebellar hypoplasia type 1A"	"OMIM:607596"	"Pontocerebellar hypoplasia type 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:12718"	"VRK1"	"OMIM:607596"	"Pontocerebellar hypoplasia type 1A, MIM# 607596"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:50"	"https://panelapp.agha.umccr.org/panels/72/"	""	"19646678, 21937992, 25609612"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.12718"	"2021-03-09"
"GENCC_000111-HGNC_26600-OMIM_610185-HP_0000007-GENCC_100002"	"HGNC:26600"	"WDR81"	"MONDO:0012430"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2"	"OMIM:610185"	"Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000111"	"PanelApp Australia"	"HGNC:26600"	"WDR81"	"OMIM:610185"	"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000111"	"PanelApp Australia"	"GENCC:100002"	"Strong"	"2021-03-01 13:38:50"	"https://panelapp.agha.umccr.org/panels/72/"	""	"25558065, 21885617"	"https://panelapp.agha.umccr.org/#!Guidelines"	"000111.72.26600"	"2021-03-09"
"GENCC_000114-HGNC_379-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:379"	"AKAP9"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:379"	"AKAP9"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:04"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). The gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 23608191)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1619"	"2021-03-06"
"GENCC_000114-HGNC_29296-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:29296"	"CCDC146"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:29296"	"CCDC146"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:04"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). The gene is scored according to ClinGen classification. Moderate with total score of 8. Single variant segregation (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID:24309898)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1698"	"2021-03-06"
"GENCC_000114-HGNC_29511-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:29511"	"CEP131"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:29511"	"CEP131"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). The gene is scored according to ClinGen classification. Moderate with total score of 8. Single variant segregation (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 24415959)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1823"	"2021-03-06"
"GENCC_000114-HGNC_1859-MONDO_0018393-HP_0000007-GENCC_100005"	"HGNC:1859"	"CEP250"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:1859"	"CEP250"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100005"	"Disputed Evidence"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Convincing evidence disputing a role for this gene is this disease has arisen since the initial report identifying a gene for Cone-rod dystrophy and hearing loss 2.  OMIM listing of CEP250- related retinal dystrophy with hearing loss is based on a few families with missense or compound missense and truncating variants, and the one family with a homozygous nonsense variant was also homozygous for a nonsense variant in an established retinal dystrophy-related gene C2orf71. Alhathal et al., 2020 (PMID: 32719396) four different homozygous missense or truncating variants with no evidence of retinal dystrophy or hearing loss, which is consistent with the male infertility phenotype observed in Cep250−/−mice (https://www.mousephenotype.org/data/ genes/MGI:108084)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1673"	"2021-03-06"
"GENCC_000114-HGNC_1350-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:1350"	"ASZ1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:1350"	"ASZ1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). The gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 19730684)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1640"	"2021-03-06"
"GENCC_000114-HGNC_2473-MONDO_0018393-HP_0000007-GENCC_100004"	"HGNC:2473"	"CST1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:2473"	"CST1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=285 infertile man and case–control fertile man) and also the gene is scored according to ClinGen classification. Limited with total score of 3. Single-variant analysis (3 points)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1881"	"2021-03-06"
"GENCC_000114-HGNC_2685-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:2685"	"DAZL"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:2685"	"DAZL"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 9288969)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1715"	"2021-03-06"
"GENCC_000114-HGNC_18698-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:18698"	"DDX25"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:18698"	"DDX25"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 32478068;PMID: 15096601)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1853"	"2021-03-06"
"GENCC_000114-HGNC_20083-MONDO_0018393-HP_0001417-GENCC_100004"	"HGNC:20083"	"DDX53"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:20083"	"DDX53"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0001417"	"X-linked inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 3. Single-variant analysis (3 points)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1872*"	"2021-03-06"
"GENCC_000114-HGNC_13908-MONDO_0018393-HP_0000007-GENCC_100004"	"HGNC:13908"	"DMRTA2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:13908"	"DMRTA2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 23175770)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1774"	"2021-03-06"
"GENCC_000114-HGNC_2951-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:2951"	"DNAH6"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:2951"	"DNAH6"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate based on, reported in male infertility (PMID: 32051257)/ Expression (PMID: 10231032)/ (>1 independent study with several unrelated probands with pathogenic variants, supporting experimental data and no contradictory evidence)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1799"	"2021-03-06"
"GENCC_000114-HGNC_18661-MONDO_0018393-HP_0000007-GENCC_100004"	"HGNC:18661"	"DNAH7"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:18661"	"DNAH7"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:05"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 27965440)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1787"	"2021-03-06"
"GENCC_000114-HGNC_16286-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:16286"	"ELMO1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:16286"	"ELMO1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) (PMID: 20844538) and testicular expression (1 points) (PMID: 20958313)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1707"	"2021-03-06"
"GENCC_000114-HGNC_3468-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:3468"	"ESR2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:3468"	"ESR2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) (PMID: 32703416; PMID: 18268329) and testicular expression (1 points) (PMID: 33163677 )."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1824"	"2021-03-06"
"GENCC_000114-HGNC_25301-MONDO_0018393-HP_0001417-GENCC_100003"	"HGNC:25301"	"FAM47C"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:25301"	"FAM47C"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0001417"	"X-linked inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate based on, reported in male infertility (PMID: 30922974)/ Expression (PMID: 18454149)/ (>1 independent study with several unrelated probands with pathogenic variants, supporting experimental data and no contradictory evidences)."	"32719396, 30922974"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1718"	"2021-03-06"
"GENCC_000114-HGNC_20193-MONDO_0018393-HP_0000007-GENCC_100005"	"HGNC:20193"	"HFM1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:20193"	"HFM1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100005"	"Disputed Evidence"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Convincing evidence disputing a role for this gene is this disease has arisen since the initial report identifying an association between the gene and disease. Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=285 infertile man and case–control fertile man)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1700"	"2021-03-06"
"GENCC_000114-HGNC_19007-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:19007"	"HIPK4"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:19007"	"HIPK4"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 32163033)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1629"	"2021-03-06"
"GENCC_000114-HGNC_25245-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:25245"	"HORMAD1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:25245"	"HORMAD1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 21478856; PMID: 21079677)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1776"	"2021-03-06"
"GENCC_000114-HGNC_24935-MONDO_0018393-HP_0001417-GENCC_100003"	"HGNC:24935"	"MAGEE2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:24935"	"MAGEE2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0001417"	"X-linked inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported two LOF variants in two independent families with male infertility from a large cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 7. Aggregate-variant analysis (6 points), experimental evidence: testicular expression (1 points) PMID: 27852984. "	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1751"	"2021-03-06"
"GENCC_000114-HGNC_7178-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:7178"	"MMRN1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:7178"	"MMRN1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 21478856; PMID: 21079677)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1684"	"2021-03-06"
"GENCC_000114-HGNC_28381-MONDO_0018393-HP_0001417-GENCC_100004"	"HGNC:28381"	"MOSPD2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:28381"	"MOSPD2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0001417"	"X-linked inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 27965440)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1765"	"2021-03-06"
"GENCC_000114-HGNC_15529-MONDO_0018393-HP_0001450-GENCC_100004"	"HGNC:15529"	"NLGN4Y"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0001450"	"Y-linked inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:15529"	"NLGN4Y"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0001450"	"Y-linked inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 27965440)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1870"	"2021-03-06"
"GENCC_000114-HGNC_19056-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:19056"	"ODF4"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:19056"	"ODF4"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:06"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a nonsense variant (LOF) in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) (http://www.informatics.jax.org/marker/phenotypes/MGI:2182079) and testicular expression (1 points) (PMID: 23096689;PMID: 12728016)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1752"	"2021-03-06"
"GENCC_000114-HGNC_8898-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:8898"	"PGK2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:8898"	"PGK2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 19759366)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1786"	"2021-03-06"
"GENCC_000114-HGNC_17644-MONDO_0018393-HP_0000007-GENCC_100002"	"HGNC:17644"	"PIWIL2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:17644"	"PIWIL2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100002"	"Strong"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant and a indel in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Strong with total score of 11. Aggregate-variant analysis (6 points), experimental evidence: Animal model (4 points). Testicular expression (1 points) (PMID: 14736746). "	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1665"	"2021-03-06"
"GENCC_000114-HGNC_20097-MONDO_0018393-HP_0000007-GENCC_100004"	"HGNC:20097"	"PPP1R36"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:20097"	"PPP1R36"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 27965440)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1617"	"2021-03-06"
"GENCC_000114-HGNC_18999-MONDO_0018393-HP_0000007-GENCC_100004"	"HGNC:18999"	"RIOK2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:18999"	"RIOK2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 27965440)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1781"	"2021-03-06"
"GENCC_000114-HGNC_10261-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:10261"	"ROS1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:10261"	"ROS1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single-variant analysis (3 points), experimental evidence: Animal model (4 points) (PMID: 24971615) and testicular expression (1 points) (PMID: 1718742)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1763"	"2021-03-06"
"GENCC_000114-HGNC_26620-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:26620"	"SPAG17"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:26620"	"SPAG17"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate based on, reported in male infertility (PMID: 28548327). Animal model (Spag17tm1b(KOMP)Wtsi). Expression (PMID:15827353)/ (>1 independent study with several unrelated probands with pathogenic variants, supporting experimental data and no contradictory evidences)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1722"	"2021-03-06"
"GENCC_000114-HGNC_17884-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:17884"	"SPATA3"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:17884"	"SPATA3"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 9. Single variant segregation (3 points), Animal model (4 points) (PMID: 33669425), testicular expression (1 points) (PMID: 18551385). Experimental evidence:Protein interaction (1 points), SPATA3interacts with KLHL10 (10.1093/biolreprod/83.s1.177), a known gene for infertility in humans (PMID: 20218307)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1730"	"2021-03-06"
"GENCC_000114-HGNC_28971-MONDO_0018393-HP_0000007-GENCC_100005"	"HGNC:28971"	"SPIDR"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:28971"	"SPIDR"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100005"	"Disputed Evidence"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Convincing evidence disputing a role for this gene is this disease has arisen since the initial report identifying an association between the gene and disease. Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=285 infertile man and case–control fertile man)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1822"	"2021-03-06"
"GENCC_000114-HGNC_30653-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:30653"	"STRA8"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:30653"	"STRA8"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single variant segregation (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 33400349)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1689"	"2021-03-06"
"GENCC_000114-HGNC_25546-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:25546"	"TBCCD1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:25546"	"TBCCD1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single variant segregation (3 points), experimental evidence: Animal model (4 points) (Tbccd1tm1b(EUCOMM)Hmgu) and testicular expression (1 points) (PMID: 20168327)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1775"	"2021-03-06"
"GENCC_000114-HGNC_28277-MONDO_0018393-HP_0001417-GENCC_100004"	"HGNC:28277"	"TCEANC"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:28277"	"TCEANC"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0001417"	"X-linked inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:07"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 3. Single variant segregation (3 points)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1784"	"2021-03-06"
"GENCC_000114-HGNC_18884-MONDO_0018393-HP_0000007-GENCC_100005"	"HGNC:18884"	"TDP1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:18884"	"TDP1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100005"	"Disputed Evidence"	"2021-03-06 13:39:08"	"https://www.nature.com/articles/s41436-020-0916-0"	"Convincing evidence disputing a role for this gene is this disease has arisen since the initial report identifying a gene for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (PMID:12244316). Alhathal et al., 2020 (PMID: 32719396) reported two unique variants (including nonesense and missense) in male infertility cohort and none of them having brain involvement (PMID: 32719396)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG0220"	"2021-03-06"
"GENCC_000114-HGNC_21339-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:21339"	"TDRD6"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:21339"	"TDRD6"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:08"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate based on, reported in male infertility (PMID: 19345099). Animal model (PMID:17215373). (>1 independent study with several unrelated probands with pathogenic variants, supporting experimental data and no contradictory evidences)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1696"	"2021-03-06"
"GENCC_000114-HGNC_16118-MONDO_0018393-HP_0000007-GENCC_100003"	"HGNC:16118"	"TTLL9"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:16118"	"TTLL9"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100003"	"Moderate"	"2021-03-06 13:39:08"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single variant segregation (3 points), experimental evidence: Animal model (4 points) and testicular expression (1 points) (PMID: 27257088)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1804"	"2021-03-06"
"GENCC_000114-HGNC_25294-MONDO_0018393-HP_0000007-GENCC_100004"	"HGNC:25294"	"ZNF541"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:25294"	"ZNF541"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:08"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 27965440)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1848"	"2021-03-06"
"GENCC_000114-HGNC_26993-MONDO_0018393-HP_0000007-GENCC_100002"	"HGNC:26993"	"ZSWIM7"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:26993"	"ZSWIM7"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100002"	"Strong"	"2021-03-06 13:39:08"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported two LOF variants in two independent families with male infertility from a large cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Strong with total score of 12. Aggregate-variant analysis (6 points), experimental evidence: Animal model (4 points) (PMID: 30305635) /Protein interaction (1 point) with XRCC2. A known male infertility gene in the humans (PMID: 30042186; PubMed: 16710300) and testicular expression (1 points) (MGI:1916997). "	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1770"	"2021-03-06"
"GENCC_000114-HGNC_15757-MONDO_0018393-HP_0000007-GENCC_100004"	"HGNC:15757"	"SIRPG"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:15757"	"SIRPG"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100004"	"Limited"	"2021-03-06 13:39:08"	"https://www.nature.com/articles/s41436-020-0916-0"	"Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Limited with total score of 4. Single variant segregation (3 points), experimental evidence: testicular expression (1 points) (PMID: 27965440)."	"32719396"	"https://www.nature.com/articles/s41436-020-0916-0"	"19DG1706"	"2021-03-06"
"GENCC_000114-HGNC_21495-MONDO_0001751-HP_0000007-GENCC_100001"	"HGNC:21495"	"KIF12"	"MONDO:0001751"	"cholestasis"	"MONDO:0001751"	"cholestasis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:21495"	"KIF12"	"MONDO:0001751"	"cholestasis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100001"	"Definitive"	"2021-03-24 13:39:09"	""	"KIF12 was first reported in relation to autosomal recessive cholestasis in 2019 (Maddirevula S, et al., 2019, PMID: 30250217). At least 5 unique variants (e.g. missense and nonsense) have been reported in humans. Variants in this gene have been reported in at least 9 probands in 4 publications (PMID: 30250217; PMID: 30976738; PMID: 33456446; PMID: 31130284).  Mice model of Kif12 modulates biliary phenotype severity, including cholangitis, and cystic kidney disease (PMID: 15728779).  Kif12 expression in the liver tissues (PMID: 15728779) (No convincing contradictory evidence has emerged. Two publications with convincing evidence and no convincing contradictory evidence classified KIF12 as definitive. Gene is scored according to ClinGen classification.
"	" 30250217, 30250217, 30976738,33456446, 31130284"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure-version-8/"	"17DG0404"	"2021-03-24"
"GENCC_000114-HGNC_17754-MONDO_0009369-HP_0000007-GENCC_100001"	"HGNC:17754"	"THSD1"	"MONDO:0009369"	"non-immune hydrops fetalis"	"MONDO:0009369"	"non-immune hydrops fetalis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:17754"	"THSD1"	"MONDO:0009369"	"non-immune hydrops fetalis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100001"	"Definitive"	"2021-03-24 13:39:10"	""	"THSD1 was first reported in relation to autosomal recessive form of Non-immune hydrops fetalis (Shamseldin et al., 2015, PMID:26036949). At least 6 unique variants (e.g. missense, frameshift and nonsense) have been reported in humans. Variants in this gene have been reported in at least 8 probands in 5 publications (PMID:26036949; PMID:31130284;PMID:28600779; PMID:30055085; PMID: 33569873). Two publications with convincing evidence and no convincing contradictory evidence classified THSD1 as definitive. Gene is scored according to ClinGen classification."	"26036949, 31130284, 28600779, 30055085, 33569873"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure-version-8/"	"13DG0806"	"2021-03-24"
"GENCC_000110-HGNC_18145-Orphanet_127-HP_0001417-GENCC_100009"	"HGNC:18145"	"PHF6"	"MONDO:0010537"	"Borjeson-Forssman-Lehmann syndrome"	"Orphanet:127"	"Orphanet:127"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18145"	"PHF6"	"Orphanet:127"	"Borjeson-Forssman-Lehmann syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12415272[PMID]_23229552[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15044"	"2021-09-14"
"GENCC_000110-HGNC_13666-Orphanet_869-HP_0000007-GENCC_100009"	"HGNC:13666"	"AAAS"	"MONDO:0009279"	"triple-A syndrome"	"Orphanet:869"	"Orphanet:869"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13666"	"AAAS"	"Orphanet:869"	"Triple A syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11159947[PMID]_20674935[PMID]_11815731[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15046"	"2021-09-14"
"GENCC_000110-HGNC_23-Orphanet_2066-HP_0000007-GENCC_100009"	"HGNC:23"	"ABAT"	"MONDO:0013166"	"GABA aminotransaminase deficiency"	"Orphanet:2066"	"Orphanet:2066"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23"	"ABAT"	"Orphanet:2066"	"Gamma-aminobutyric acid transaminase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9746906[PMID]_10407778[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15048"	"2021-09-14"
"GENCC_000110-HGNC_14637-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:14637"	"ABCA12"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14637"	"ABCA12"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22739337[PMID]_20301593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15049"	"2021-09-14"
"GENCC_000110-HGNC_14637-Orphanet_457-HP_0000007-GENCC_100009"	"HGNC:14637"	"ABCA12"	"MONDO:0009443"	"autosomal recessive congenital ichthyosis 4B"	"Orphanet:457"	"Orphanet:457"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14637"	"ABCA12"	"Orphanet:457"	"Harlequin ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301593[PMID]_19179616[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15049"	"2021-09-14"
"GENCC_000110-HGNC_14637-Orphanet_79394-HP_0000007-GENCC_100009"	"HGNC:14637"	"ABCA12"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"Orphanet:79394"	"Orphanet:79394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14637"	"ABCA12"	"Orphanet:79394"	"Congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18284401[PMID]_19262603[PMID]_22257947[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15049"	"2021-09-14"
"GENCC_000110-HGNC_34-Orphanet_827-HP_0000006-GENCC_100009"	"HGNC:34"	"ABCA4"	"MONDO:0019353"	"Stargardt disease"	"Orphanet:827"	"Orphanet:827"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:34"	"ABCA4"	"Orphanet:827"	"Stargardt disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20633576[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15050"	"2021-09-14"
"GENCC_000110-HGNC_34-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:34"	"ABCA4"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:34"	"ABCA4"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15050"	"2021-09-14"
"GENCC_000110-HGNC_34-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:34"	"ABCA4"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:34"	"ABCA4"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10958761[PMID]_23776498[PMID]_26992781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15050"	"2021-09-14"
"GENCC_000110-HGNC_42-Orphanet_79304-HP_0000007-GENCC_100009"	"HGNC:42"	"ABCB11"	"MONDO:0011156"	"progressive familial intrahepatic cholestasis type 2"	"Orphanet:79304"	"Orphanet:79304"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:42"	"ABCB11"	"Orphanet:79304"	"Progressive familial intrahepatic cholestasis type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9806540[PMID]_15791618[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15051"	"2021-09-14"
"GENCC_000110-HGNC_45-Orphanet_69663-HP_0000006-GENCC_100009"	"HGNC:45"	"ABCB4"	"MONDO:0010939"	"low phospholipid associated cholelithiasis"	"Orphanet:69663"	"Orphanet:69663"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:45"	"ABCB4"	"Orphanet:69663"	"Low phospholipid-associated cholelithiasis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17562004[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15052"	"2021-09-14"
"GENCC_000110-HGNC_45-Orphanet_79305-HP_0000007-GENCC_100009"	"HGNC:45"	"ABCB4"	"MONDO:0011214"	"progressive familial intrahepatic cholestasis type 3"	"Orphanet:79305"	"Orphanet:79305"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:45"	"ABCB4"	"Orphanet:79305"	"Progressive familial intrahepatic cholestasis type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17726488[PMID]_21119540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15052"	"2021-09-14"
"GENCC_000110-HGNC_48-Orphanet_2802-HP_0001417-GENCC_100009"	"HGNC:48"	"ABCB7"	"MONDO:0010524"	"X-linked sideroblastic anemia with ataxia"	"Orphanet:2802"	"Orphanet:2802"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:48"	"ABCB7"	"Orphanet:2802"	"X-linked sideroblastic anemia and spinocerebellar ataxia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301496[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15053"	"2021-09-14"
"GENCC_000110-HGNC_53-Orphanet_234-HP_0000007-GENCC_100009"	"HGNC:53"	"ABCC2"	"MONDO:0009380"	"Dubin-Johnson syndrome"	"Orphanet:234"	"Orphanet:234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:53"	"ABCC2"	"Orphanet:234"	"Dubin-Johnson syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15054"	"2021-09-14"
"GENCC_000110-HGNC_57-Orphanet_758-HP_0000007-GENCC_100009"	"HGNC:57"	"ABCC6"	"MONDO:0009925"	"autosomal recessive inherited pseudoxanthoma elasticum"	"Orphanet:758"	"Orphanet:758"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:57"	"ABCC6"	"Orphanet:758"	"Pseudoxanthoma elasticum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20032990[PMID]_20301292[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15055"	"2021-09-14"
"GENCC_000110-HGNC_57-Orphanet_51608-HP_0000006-GENCC_100009"	"HGNC:57"	"ABCC6"	"MONDO:0018870"	"arterial calcification of infancy"	"Orphanet:51608"	"Orphanet:51608"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:57"	"ABCC6"	"Orphanet:51608"	"Generalized arterial calcification of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25392903[PMID]_22209248[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15055"	"2021-09-14"
"GENCC_000110-HGNC_59-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:59"	"ABCC8"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:59"	"ABCC8"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21989597[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15056"	"2021-09-14"
"GENCC_000110-HGNC_59-Orphanet_79134-HP_0000006-GENCC_100009"	"HGNC:59"	"ABCC8"	"MONDO:0019207"	"DEND syndrome"	"Orphanet:79134"	"Orphanet:79134"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:59"	"ABCC8"	"Orphanet:79134"	"DEND syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22498247[PMID]_21109997[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15056"	"2021-09-14"
"GENCC_000110-HGNC_59-Orphanet_79643-HP_0000007-GENCC_100009"	"HGNC:59"	"ABCC8"	"MONDO:0019333"	"autosomal recessive hyperinsulinism due to SUR1 deficiency"	"Orphanet:79643"	"Orphanet:79643"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:59"	"ABCC8"	"Orphanet:79643"	"Autosomal recessive hyperinsulinism due to SUR1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15562009[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15056"	"2021-09-14"
"GENCC_000110-HGNC_59-Orphanet_99885-HP_0000006-GENCC_100009"	"HGNC:59"	"ABCC8"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"Orphanet:99885"	"Orphanet:99885"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:59"	"ABCC8"	"Orphanet:99885"	"Isolated permanent neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]_20301620[PMID]_24843665[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15056"	"2021-09-14"
"GENCC_000110-HGNC_59-Orphanet_99886-HP_0000006-GENCC_100009"	"HGNC:59"	"ABCC8"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"Orphanet:99886"	"Orphanet:99886"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:59"	"ABCC8"	"Orphanet:99886"	"Transient neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]_21738553[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15056"	"2021-09-14"
"GENCC_000110-HGNC_59-Orphanet_276575-HP_0000006-GENCC_100009"	"HGNC:59"	"ABCC8"	"MONDO:0017184"	"autosomal dominant hyperinsulinism due to SUR1 deficiency"	"Orphanet:276575"	"Orphanet:276575"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:59"	"ABCC8"	"Orphanet:276575"	"Autosomal dominant hyperinsulinism due to SUR1 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11018078[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15056"	"2021-09-14"
"GENCC_000110-HGNC_59-Orphanet_276598-HP_0000006-GENCC_100009"	"HGNC:59"	"ABCC8"	"MONDO:0017187"	"diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"	"Orphanet:276598"	"Orphanet:276598"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:59"	"ABCC8"	"Orphanet:276598"	"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21967988[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15056"	"2021-09-14"
"GENCC_000110-HGNC_60-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:60"	"ABCC9"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:60"	"ABCC9"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15034580[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15057"	"2021-09-14"
"GENCC_000110-HGNC_60-Orphanet_965-HP_0000006-GENCC_100009"	"HGNC:60"	"ABCC9"	"MONDO:0007051"	"acromegaloid facial appearance syndrome"	"Orphanet:965"	"Orphanet:965"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:60"	"ABCC9"	"Orphanet:965"	"Acromegaloid facial appearance syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23307537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15057"	"2021-09-14"
"GENCC_000110-HGNC_60-Orphanet_966-HP_0000006-GENCC_100009"	"HGNC:60"	"ABCC9"	"MONDO:0019940"	"hypertrichosis-acromegaloid facial appearance syndrome"	"Orphanet:966"	"Orphanet:966"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:60"	"ABCC9"	"Orphanet:966"	"Hypertrichosis-acromegaloid facial appearance syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23307537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15057"	"2021-09-14"
"GENCC_000110-HGNC_60-Orphanet_1517-HP_0000006-GENCC_100009"	"HGNC:60"	"ABCC9"	"MONDO:0009406"	"hypertrichotic osteochondrodysplasia Cantu type"	"Orphanet:1517"	"Orphanet:1517"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:60"	"ABCC9"	"Orphanet:1517"	"Hypertrichotic osteochondrodysplasia, Cantu type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22608503[PMID]_22610116[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15057"	"2021-09-14"
"GENCC_000110-HGNC_61-Orphanet_388-HP_0000006-GENCC_100009"	"HGNC:61"	"ABCD1"	"MONDO:0018309"	"Hirschsprung disease"	"Orphanet:388"	"Orphanet:388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:61"	"ABCD1"	"Orphanet:388"	"Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33151932[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15058"	"2021-09-14"
"GENCC_000110-HGNC_61-Orphanet_139396-HP_0001417-GENCC_100009"	"HGNC:61"	"ABCD1"	"MONDO:0010247"	"X-linked cerebral adrenoleukodystrophy"	"Orphanet:139396"	"Orphanet:139396"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:61"	"ABCD1"	"Orphanet:139396"	"X-linked cerebral adrenoleukodystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301491[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15058"	"2021-09-14"
"GENCC_000110-HGNC_61-Orphanet_139399-HP_0001417-GENCC_100009"	"HGNC:61"	"ABCD1"	"MONDO:0015339"	"adrenomyeloneuropathy"	"Orphanet:139399"	"Orphanet:139399"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:61"	"ABCD1"	"Orphanet:139399"	"Adrenomyeloneuropathy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301491[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15058"	"2021-09-14"
"GENCC_000110-HGNC_13886-Orphanet_2882-HP_0000007-GENCC_100009"	"HGNC:13886"	"ABCG5"	"MONDO:0008863"	"sitosterolemia"	"Orphanet:2882"	"Orphanet:2882"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13886"	"ABCG5"	"Orphanet:2882"	"Sitosterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11138003[PMID]_23556150[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15059"	"2021-09-14"
"GENCC_000110-HGNC_13887-Orphanet_2882-HP_0000007-GENCC_100009"	"HGNC:13887"	"ABCG8"	"MONDO:0008863"	"sitosterolemia"	"Orphanet:2882"	"Orphanet:2882"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13887"	"ABCG8"	"Orphanet:2882"	"Sitosterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11099417[PMID]_23556150[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15060"	"2021-09-14"
"GENCC_000110-HGNC_21396-Orphanet_98907-HP_0000007-GENCC_100009"	"HGNC:21396"	"ABHD5"	"MONDO:0010155"	"Dorfman-Chanarin disease"	"Orphanet:98907"	"Orphanet:98907"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21396"	"ABHD5"	"Orphanet:98907"	"Neutral lipid storage disease with ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18606822[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15061"	"2021-09-14"
"GENCC_000110-HGNC_89-Orphanet_42-HP_0000007-GENCC_100009"	"HGNC:89"	"ACADM"	"MONDO:0008721"	"medium chain acyl-CoA dehydrogenase deficiency"	"Orphanet:42"	"Orphanet:42"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:89"	"ACADM"	"Orphanet:42"	"Medium chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301597[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15064"	"2021-09-14"
"GENCC_000110-HGNC_90-Orphanet_26792-HP_0000007-GENCC_100009"	"HGNC:90"	"ACADS"	"MONDO:0008722"	"short chain acyl-CoA dehydrogenase deficiency"	"Orphanet:26792"	"Orphanet:26792"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:90"	"ACADS"	"Orphanet:26792"	"Short chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21938826[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15065"	"2021-09-14"
"GENCC_000110-HGNC_91-Orphanet_79157-HP_0000007-GENCC_100009"	"HGNC:91"	"ACADSB"	"MONDO:0012392"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"Orphanet:79157"	"Orphanet:79157"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:91"	"ACADSB"	"Orphanet:79157"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20547083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15066"	"2021-09-14"
"GENCC_000110-HGNC_92-Orphanet_26793-HP_0000007-GENCC_100009"	"HGNC:92"	"ACADVL"	"MONDO:0008723"	"very long chain acyl-CoA dehydrogenase deficiency"	"Orphanet:26793"	"Orphanet:26793"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:92"	"ACADVL"	"Orphanet:26793"	"Very long chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301763[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15067"	"2021-09-14"
"GENCC_000110-HGNC_319-Orphanet_93283-HP_0000006-GENCC_100009"	"HGNC:319"	"ACAN"	"MONDO:0012019"	"spondyloepiphyseal dysplasia, Kimberley type"	"Orphanet:93283"	"Orphanet:93283"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:319"	"ACAN"	"Orphanet:93283"	"Spondyloepiphyseal dysplasia, Kimberley type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16080123[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15068"	"2021-09-14"
"GENCC_000110-HGNC_319-Orphanet_171866-HP_0000007-GENCC_100009"	"HGNC:319"	"ACAN"	"MONDO:0013014"	"spondyloepimetaphyseal dysplasia, aggrecan type"	"Orphanet:171866"	"Orphanet:171866"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:319"	"ACAN"	"Orphanet:171866"	"Spondyloepimetaphyseal dysplasia, aggrecan type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19110214[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15068"	"2021-09-14"
"GENCC_000110-HGNC_319-Orphanet_251262-HP_0000006-GENCC_100009"	"HGNC:319"	"ACAN"	"MONDO:0017178"	"osteochondritis dissecans"	"Orphanet:251262"	"Orphanet:251262"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:319"	"ACAN"	"Orphanet:251262"	"Familial osteochondritis dissecans"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20137779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15068"	"2021-09-14"
"GENCC_000110-HGNC_319-Orphanet_435804-HP_0000006-GENCC_100009"	"HGNC:319"	"ACAN"	"MONDO:0018566"	"short stature-advanced bone age-early-onset osteoarthritis syndrome"	"Orphanet:435804"	"Orphanet:435804"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:319"	"ACAN"	"Orphanet:435804"	"Short stature-advanced bone age-early-onset osteoarthritis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24762113[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15068"	"2021-09-14"
"GENCC_000110-HGNC_93-Orphanet_134-HP_0000007-GENCC_100009"	"HGNC:93"	"ACAT1"	"MONDO:0008760"	"beta-ketothiolase deficiency"	"Orphanet:134"	"Orphanet:134"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:93"	"ACAT1"	"Orphanet:134"	"Beta-ketothiolase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23430882[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15069"	"2021-09-14"
"GENCC_000110-HGNC_2707-Orphanet_97369-HP_0000007-GENCC_100009"	"HGNC:2707"	"ACE"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"Orphanet:97369"	"Orphanet:97369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2707"	"ACE"	"Orphanet:97369"	"Renal tubular dysgenesis of genetic origin"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16116425[PMID]_22095942[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15070"	"2021-09-14"
"GENCC_000110-HGNC_119-Orphanet_2971-HP_0000007-GENCC_100009"	"HGNC:119"	"ACOX1"	"MONDO:0009919"	"peroxisomal acyl-CoA oxidase deficiency"	"Orphanet:2971"	"Orphanet:2971"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:119"	"ACOX1"	"Orphanet:2971"	"Peroxisomal acyl-CoA oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22508517[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15072"	"2021-09-14"
"GENCC_000110-HGNC_3571-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:3571"	"ACSL4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3571"	"ACSL4"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11889465[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15074"	"2021-09-14"
"GENCC_000110-HGNC_129-Orphanet_2020-HP_0000006-GENCC_100009"	"HGNC:129"	"ACTA1"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"Orphanet:2020"	"Orphanet:2020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:129"	"ACTA1"	"Orphanet:2020"	"Congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15075"	"2021-09-14"
"GENCC_000110-HGNC_129-Orphanet_97240-HP_0000005-GENCC_100009"	"HGNC:129"	"ACTA1"	"MONDO:0019949"	"zebra body myopathy"	"Orphanet:97240"	"Orphanet:97240"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:129"	"ACTA1"	"Orphanet:97240"	"Zebra body myopathy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25747004[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15075"	"2021-09-14"
"GENCC_000110-HGNC_129-Orphanet_97244-HP_0000007-GENCC_100009"	"HGNC:129"	"ACTA1"	"MONDO:0019951"	"rigid spine syndrome"	"Orphanet:97244"	"Orphanet:97244"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:129"	"ACTA1"	"Orphanet:97244"	"Rigid spine syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25182138[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15075"	"2021-09-14"
"GENCC_000110-HGNC_129-Orphanet_171430-HP_0000007-GENCC_100009"	"HGNC:129"	"ACTA1"	"MONDO:0015735"	"severe congenital nemaline myopathy"	"Orphanet:171430"	"Orphanet:171430"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:129"	"ACTA1"	"Orphanet:171430"	"Severe congenital nemaline myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15075"	"2021-09-14"
"GENCC_000110-HGNC_129-Orphanet_171433-HP_0000006-GENCC_100009"	"HGNC:129"	"ACTA1"	"MONDO:0015736"	"intermediate nemaline myopathy"	"Orphanet:171433"	"Orphanet:171433"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:129"	"ACTA1"	"Orphanet:171433"	"Intermediate nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15075"	"2021-09-14"
"GENCC_000110-HGNC_129-Orphanet_171436-HP_0000006-GENCC_100009"	"HGNC:129"	"ACTA1"	"MONDO:0015737"	"typical nemaline myopathy"	"Orphanet:171436"	"Orphanet:171436"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:129"	"ACTA1"	"Orphanet:171436"	"Typical nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15075"	"2021-09-14"
"GENCC_000110-HGNC_129-Orphanet_171439-HP_0000006-GENCC_100009"	"HGNC:129"	"ACTA1"	"MONDO:0015738"	"childhood-onset nemaline myopathy"	"Orphanet:171439"	"Orphanet:171439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:129"	"ACTA1"	"Orphanet:171439"	"Childhood-onset nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15075"	"2021-09-14"
"GENCC_000110-HGNC_129-Orphanet_447977-HP_0000006-GENCC_100009"	"HGNC:129"	"ACTA1"	"MONDO:0014800"	"progressive scapulohumeroperoneal distal myopathy"	"Orphanet:447977"	"Orphanet:447977"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:129"	"ACTA1"	"Orphanet:447977"	"Progressive scapulohumeroperoneal distal myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25938801[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15075"	"2021-09-14"
"GENCC_000110-HGNC_143-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:143"	"ACTC1"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:143"	"ACTC1"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9563954[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15076"	"2021-09-14"
"GENCC_000110-HGNC_166-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:166"	"ACTN4"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:166"	"ACTN4"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10700177[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15077"	"2021-09-14"
"GENCC_000110-HGNC_171-Orphanet_337-HP_0000006-GENCC_100009"	"HGNC:171"	"ACVR1"	"MONDO:0007606"	"fibrodysplasia ossificans progressiva"	"Orphanet:337"	"Orphanet:337"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:171"	"ACVR1"	"Orphanet:337"	"Fibrodysplasia ossificans progressiva"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23011467[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15078"	"2021-09-14"
"GENCC_000110-HGNC_175-Orphanet_774-HP_0000006-GENCC_100009"	"HGNC:175"	"ACVRL1"	"MONDO:0019180"	"hereditary hemorrhagic telangiectasia"	"Orphanet:774"	"Orphanet:774"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:175"	"ACVRL1"	"Orphanet:774"	"Hereditary hemorrhagic telangiectasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301525[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15079"	"2021-09-14"
"GENCC_000110-HGNC_186-Orphanet_277-HP_0000007-GENCC_100009"	"HGNC:186"	"ADA"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"Orphanet:277"	"Orphanet:277"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:186"	"ADA"	"Orphanet:277"	"Severe combined immunodeficiency due to adenosine deaminase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15080"	"2021-09-14"
"GENCC_000110-HGNC_186-Orphanet_39041-HP_0000007-GENCC_100009"	"HGNC:186"	"ADA"	"MONDO:0011338"	"Omenn syndrome"	"Orphanet:39041"	"Orphanet:39041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:186"	"ADA"	"Orphanet:39041"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15080"	"2021-09-14"
"GENCC_000110-HGNC_13201-Orphanet_3449-HP_0000006-GENCC_100009"	"HGNC:13201"	"ADAMTS10"	"MONDO:0018096"	"Weill-Marchesani syndrome"	"Orphanet:3449"	"Orphanet:3449"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13201"	"ADAMTS10"	"Orphanet:3449"	"Weill-Marchesani syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301293[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15081"	"2021-09-14"
"GENCC_000110-HGNC_1366-Orphanet_93583-HP_0000007-GENCC_100009"	"HGNC:1366"	"ADAMTS13"	"MONDO:0010122"	"congenital thrombotic thrombocytopenic purpura"	"Orphanet:93583"	"Orphanet:93583"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1366"	"ADAMTS13"	"Orphanet:93583"	"Congenital thrombotic thrombocytopenic purpura"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25587650[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15082"	"2021-09-14"
"GENCC_000110-HGNC_218-Orphanet_1901-HP_0000007-GENCC_100009"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"Orphanet:1901"	"Orphanet:1901"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:218"	"ADAMTS2"	"Orphanet:1901"	"Dermatosparaxis Ehlers-Danlos syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10417273[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15083"	"2021-09-14"
"GENCC_000110-HGNC_8923-Orphanet_2671-HP_0000007-GENCC_100009"	"HGNC:8923"	"PHGDH"	"MONDO:0000179"	"Neu-Laxova syndrome"	"Orphanet:2671"	"Orphanet:2671"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8923"	"PHGDH"	"Orphanet:2671"	"Neu-Laxova syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24836451[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15084"	"2021-09-14"
"GENCC_000110-HGNC_8923-Orphanet_79351-HP_0000007-GENCC_100009"	"HGNC:8923"	"PHGDH"	"MONDO:0011152"	"PHGDH deficiency"	"Orphanet:79351"	"Orphanet:79351"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8923"	"PHGDH"	"Orphanet:79351"	"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11055895[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15084"	"2021-09-14"
"GENCC_000110-HGNC_8925-Orphanet_715-HP_0000007-GENCC_100009"	"HGNC:8925"	"PHKA1"	"MONDO:0010362"	"glycogen storage disease IXd"	"Orphanet:715"	"Orphanet:715"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8925"	"PHKA1"	"Orphanet:715"	"Glycogen storage disease due to muscle phosphorylase kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15085"	"2021-09-14"
"GENCC_000110-HGNC_8926-Orphanet_264580-HP_0000007-GENCC_100009"	"HGNC:8926"	"PHKA2"	"MONDO:0020693"	"glycogen storage disease due to liver phosphorylase kinase deficiency"	"Orphanet:264580"	"Orphanet:264580"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8926"	"PHKA2"	"Orphanet:264580"	"Glycogen storage disease due to liver phosphorylase kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15086"	"2021-09-14"
"GENCC_000110-HGNC_8927-Orphanet_79240-HP_0000007-GENCC_100009"	"HGNC:8927"	"PHKB"	"MONDO:0009868"	"glycogen storage disease IXb"	"Orphanet:79240"	"Orphanet:79240"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8927"	"PHKB"	"Orphanet:79240"	"Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15087"	"2021-09-14"
"GENCC_000110-HGNC_691-Orphanet_45358-HP_0000006-GENCC_100009"	"HGNC:691"	"PHOX2A"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"Orphanet:45358"	"Orphanet:45358"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:691"	"PHOX2A"	"Orphanet:45358"	"Congenital fibrosis of extraocular muscles"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301522[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15088"	"2021-09-14"
"GENCC_000110-HGNC_9143-Orphanet_661-HP_0000006-GENCC_100009"	"HGNC:9143"	"PHOX2B"	"MONDO:0008852"	"congenital central hypoventilation syndrome"	"Orphanet:661"	"Orphanet:661"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9143"	"PHOX2B"	"Orphanet:661"	"Ondine syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301600[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15089"	"2021-09-14"
"GENCC_000110-HGNC_9143-Orphanet_99803-HP_0000006-GENCC_100009"	"HGNC:9143"	"PHOX2B"	"MONDO:0020493"	"Haddad syndrome"	"Orphanet:99803"	"Orphanet:99803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9143"	"PHOX2B"	"Orphanet:99803"	"Haddad syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15089"	"2021-09-14"
"GENCC_000110-HGNC_8940-Orphanet_773-HP_0000007-GENCC_100009"	"HGNC:8940"	"PHYH"	"MONDO:0009958"	"adult Refsum disease"	"Orphanet:773"	"Orphanet:773"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8940"	"PHYH"	"Orphanet:773"	"Refsum disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301527[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15090"	"2021-09-14"
"GENCC_000110-HGNC_18858-Orphanet_83639-HP_0000007-GENCC_100009"	"HGNC:18858"	"PIGM"	"MONDO:0012465"	"hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	"Orphanet:83639"	"Orphanet:83639"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18858"	"PIGM"	"Orphanet:83639"	"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16767100[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15092"	"2021-09-14"
"GENCC_000110-HGNC_8975-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:8975"	"PIK3CA"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8975"	"PIK3CA"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23246288[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15093"	"2021-09-14"
"GENCC_000110-HGNC_14581-Orphanet_2828-HP_0000007-GENCC_100009"	"HGNC:14581"	"PINK1"	"MONDO:0017279"	"young-onset Parkinson disease"	"Orphanet:2828"	"Orphanet:2828"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14581"	"PINK1"	"Orphanet:2828"	"Young-onset Parkinson disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22166458[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15094"	"2021-09-14"
"GENCC_000110-HGNC_23785-Orphanet_98970-HP_0000006-GENCC_100009"	"HGNC:23785"	"PIKFYVE"	"MONDO:0007376"	"fleck corneal dystrophy"	"Orphanet:98970"	"Orphanet:98970"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23785"	"PIKFYVE"	"Orphanet:98970"	"Fleck corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22065932[PMID]_26396486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15095"	"2021-09-14"
"GENCC_000110-HGNC_9005-Orphanet_782-HP_0000006-GENCC_100009"	"HGNC:9005"	"PITX2"	"MONDO:0019187"	"Axenfeld-Rieger syndrome"	"Orphanet:782"	"Orphanet:782"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9005"	"PITX2"	"Orphanet:782"	"Axenfeld-Rieger syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19513095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15096"	"2021-09-14"
"GENCC_000110-HGNC_9005-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:9005"	"PITX2"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9005"	"PITX2"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24333117[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15096"	"2021-09-14"
"GENCC_000110-HGNC_9005-Orphanet_91481-HP_0000006-GENCC_100009"	"HGNC:9005"	"PITX2"	"MONDO:0008387"	"ring dermoid of cornea"	"Orphanet:91481"	"Orphanet:91481"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9005"	"PITX2"	"Orphanet:91481"	"Ring dermoid of cornea"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15591271[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15096"	"2021-09-14"
"GENCC_000110-HGNC_9005-Orphanet_91483-HP_0000006-GENCC_100009"	"HGNC:9005"	"PITX2"	"MONDO:0019628"	"Rieger anomaly"	"Orphanet:91483"	"Orphanet:91483"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9005"	"PITX2"	"Orphanet:91483"	"Rieger anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19513095[PMID]_24433355[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15096"	"2021-09-14"
"GENCC_000110-HGNC_9005-Orphanet_98978-HP_0000006-GENCC_100009"	"HGNC:9005"	"PITX2"	"MONDO:0020368"	"Axenfeld anomaly"	"Orphanet:98978"	"Orphanet:98978"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9005"	"PITX2"	"Orphanet:98978"	"Axenfeld anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19513095[PMID]_24433355[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15096"	"2021-09-14"
"GENCC_000110-HGNC_9006-Orphanet_162-HP_0000006-GENCC_100009"	"HGNC:9006"	"PITX3"	"MONDO:0015567"	"cataract-glaucoma syndrome"	"Orphanet:162"	"Orphanet:162"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9006"	"PITX3"	"Orphanet:162"	"Cataract-glaucoma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9620774[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15097"	"2021-09-14"
"GENCC_000110-HGNC_9006-Orphanet_98993-HP_0000006-GENCC_100009"	"HGNC:9006"	"PITX3"	"MONDO:0020378"	"early-onset posterior polar cataract"	"Orphanet:98993"	"Orphanet:98993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9006"	"PITX3"	"Orphanet:98993"	"Early-onset posterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16636655[PMID]_21633712[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15097"	"2021-09-14"
"GENCC_000110-HGNC_9008-Orphanet_730-HP_0000006-GENCC_100009"	"HGNC:9008"	"PKD1"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"Orphanet:730"	"Orphanet:730"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9008"	"PKD1"	"Orphanet:730"	"Autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301424[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15098"	"2021-09-14"
"GENCC_000110-HGNC_9009-Orphanet_730-HP_0000006-GENCC_100009"	"HGNC:9009"	"PKD2"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"Orphanet:730"	"Orphanet:730"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9009"	"PKD2"	"Orphanet:730"	"Autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301424[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15099"	"2021-09-14"
"GENCC_000110-HGNC_9016-Orphanet_731-HP_0000007-GENCC_100009"	"HGNC:9016"	"PKHD1"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"Orphanet:731"	"Orphanet:731"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9016"	"PKHD1"	"Orphanet:731"	"Autosomal recessive polycystic kidney disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301501[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15100"	"2021-09-14"
"GENCC_000110-HGNC_9016-Orphanet_53035-HP_0000007-GENCC_100009"	"HGNC:9016"	"PKHD1"	"MONDO:0010913"	"Caroli disease"	"Orphanet:53035"	"Orphanet:53035"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9016"	"PKHD1"	"Orphanet:53035"	"Caroli disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24710345[PMID]_26385851[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15100"	"2021-09-14"
"GENCC_000110-HGNC_9020-Orphanet_766-HP_0000007-GENCC_100009"	"HGNC:9020"	"PKLR"	"MONDO:0009950"	"pyruvate kinase deficiency of red cells"	"Orphanet:766"	"Orphanet:766"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9020"	"PKLR"	"Orphanet:766"	"Hemolytic anemia due to red cell pyruvate kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15953013[PMID]_16704447[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15101"	"2021-09-14"
"GENCC_000110-HGNC_9023-Orphanet_158668-HP_0000007-GENCC_100009"	"HGNC:9023"	"PKP1"	"MONDO:0011472"	"epidermolysis bullosa simplex due to plakophilin deficiency"	"Orphanet:158668"	"Orphanet:158668"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9023"	"PKP1"	"Orphanet:158668"	"Ectodermal dysplasia-skin fragility syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19945625[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15103"	"2021-09-14"
"GENCC_000110-HGNC_9024-Orphanet_54260-HP_0000006-GENCC_100009"	"HGNC:9024"	"PKP2"	"MONDO:0018901"	"left ventricular noncompaction"	"Orphanet:54260"	"Orphanet:54260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9024"	"PKP2"	"Orphanet:54260"	"Left ventricular noncompaction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27030002[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15104"	"2021-09-14"
"GENCC_000110-HGNC_9039-Orphanet_35069-HP_0000007-GENCC_100009"	"HGNC:9039"	"PLA2G6"	"MONDO:0024457"	"neurodegeneration with brain iron accumulation 2A"	"Orphanet:35069"	"Orphanet:35069"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9039"	"PLA2G6"	"Orphanet:35069"	"Infantile neuroaxonal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15105"	"2021-09-14"
"GENCC_000110-HGNC_9039-Orphanet_199351-HP_0000007-GENCC_100009"	"HGNC:9039"	"PLA2G6"	"MONDO:0013060"	"autosomal recessive Parkinson disease 14"	"Orphanet:199351"	"Orphanet:199351"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9039"	"PLA2G6"	"Orphanet:199351"	"Adult-onset dystonia-parkinsonism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15105"	"2021-09-14"
"GENCC_000110-HGNC_9069-Orphanet_1114-HP_0000006-GENCC_100009"	"HGNC:9069"	"PLEC"	"MONDO:0007145"	"aplasia cutis congenita"	"Orphanet:1114"	"Orphanet:1114"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9069"	"PLEC"	"Orphanet:1114"	"Aplasia cutis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31184804[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15106"	"2021-09-14"
"GENCC_000110-HGNC_9069-Orphanet_257-HP_0000007-GENCC_100009"	"HGNC:9069"	"PLEC"	"MONDO:0009181"	"epidermolysis bullosa simplex 5B, with muscular dystrophy"	"Orphanet:257"	"Orphanet:257"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9069"	"PLEC"	"Orphanet:257"	"Epidermolysis bullosa simplex with muscular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20052759[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15106"	"2021-09-14"
"GENCC_000110-HGNC_9069-Orphanet_79401-HP_0000006-GENCC_100009"	"HGNC:9069"	"PLEC"	"MONDO:0007555"	"epidermolysis bullosa simplex 5A, Ogna type"	"Orphanet:79401"	"Orphanet:79401"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9069"	"PLEC"	"Orphanet:79401"	"PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11851880[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15106"	"2021-09-14"
"GENCC_000110-HGNC_9069-Orphanet_158684-HP_0000007-GENCC_100009"	"HGNC:9069"	"PLEC"	"MONDO:0012807"	"epidermolysis bullosa simplex 5C, with pyloric atresia"	"Orphanet:158684"	"Orphanet:158684"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9069"	"PLEC"	"Orphanet:158684"	"Epidermolysis bullosa simplex with pyloric atresia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20052759[PMID]_20301336[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15106"	"2021-09-14"
"GENCC_000110-HGNC_9069-Orphanet_254361-HP_0000007-GENCC_100009"	"HGNC:9069"	"PLEC"	"MONDO:0013390"	"autosomal recessive limb-girdle muscular dystrophy type 2Q"	"Orphanet:254361"	"Orphanet:254361"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9069"	"PLEC"	"Orphanet:254361"	"Plectin-related limb-girdle muscular dystrophy R17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15106"	"2021-09-14"
"GENCC_000110-HGNC_9071-Orphanet_722-HP_0000007-GENCC_100009"	"HGNC:9071"	"PLG"	"MONDO:0009009"	"hypoplasminogenemia"	"Orphanet:722"	"Orphanet:722"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9071"	"PLG"	"Orphanet:722"	"Hypoplasminogenemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16849641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15108"	"2021-09-14"
"GENCC_000110-HGNC_9081-Orphanet_1900-HP_0000007-GENCC_100009"	"HGNC:9081"	"PLOD1"	"MONDO:0016002"	"Ehlers-Danlos syndrome, kyphoscoliotic type 1"	"Orphanet:1900"	"Orphanet:1900"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9081"	"PLOD1"	"Orphanet:1900"	"Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15979919[PMID]_20301635[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15109"	"2021-09-14"
"GENCC_000110-HGNC_9082-Orphanet_2771-HP_0000007-GENCC_100009"	"HGNC:9082"	"PLOD2"	"MONDO:0017195"	"Bruck syndrome"	"Orphanet:2771"	"Orphanet:2771"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9082"	"PLOD2"	"Orphanet:2771"	"Bruck syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15523624[PMID]_22689593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15110"	"2021-09-14"
"GENCC_000110-HGNC_9086-Orphanet_99015-HP_0001417-GENCC_100009"	"HGNC:9086"	"PLP1"	"MONDO:0010733"	"hereditary spastic paraplegia 2"	"Orphanet:99015"	"Orphanet:99015"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9086"	"PLP1"	"Orphanet:99015"	"Spastic paraplegia type 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301361[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15111"	"2021-09-14"
"GENCC_000110-HGNC_9086-Orphanet_280210-HP_0001417-GENCC_100009"	"HGNC:9086"	"PLP1"	"MONDO:0017221"	"Pelizaeus-Merzbacher disease, connatal form"	"Orphanet:280210"	"Orphanet:280210"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9086"	"PLP1"	"Orphanet:280210"	"Pelizaeus-Merzbacher disease, connatal form"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301361[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15111"	"2021-09-14"
"GENCC_000110-HGNC_9086-Orphanet_280219-HP_0001417-GENCC_100009"	"HGNC:9086"	"PLP1"	"MONDO:0017222"	"Pelizaeus-Merzbacher disease, classic form"	"Orphanet:280219"	"Orphanet:280219"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9086"	"PLP1"	"Orphanet:280219"	"Pelizaeus-Merzbacher disease, classic form"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301361[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15111"	"2021-09-14"
"GENCC_000110-HGNC_9086-Orphanet_280224-HP_0001417-GENCC_100009"	"HGNC:9086"	"PLP1"	"MONDO:0017223"	"Pelizaeus-Merzbacher disease, transitional form"	"Orphanet:280224"	"Orphanet:280224"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9086"	"PLP1"	"Orphanet:280224"	"Pelizaeus-Merzbacher disease, transitional form"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301361[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15111"	"2021-09-14"
"GENCC_000110-HGNC_9086-Orphanet_280229-HP_0001417-GENCC_100009"	"HGNC:9086"	"PLP1"	"MONDO:0017224"	"Pelizaeus-Merzbacher disease in female carriers"	"Orphanet:280229"	"Orphanet:280229"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9086"	"PLP1"	"Orphanet:280229"	"Pelizaeus-Merzbacher disease in female carriers"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301361[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15111"	"2021-09-14"
"GENCC_000110-HGNC_9086-Orphanet_280234-HP_0001417-GENCC_100009"	"HGNC:9086"	"PLP1"	"MONDO:0017225"	"null syndrome"	"Orphanet:280234"	"Orphanet:280234"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9086"	"PLP1"	"Orphanet:280234"	"Null syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301361[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15111"	"2021-09-14"
"GENCC_000110-HGNC_9115-Orphanet_79318-HP_0000007-GENCC_100009"	"HGNC:9115"	"PMM2"	"MONDO:0008907"	"PMM2-congenital disorder of glycosylation"	"Orphanet:79318"	"Orphanet:79318"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9115"	"PMM2"	"Orphanet:79318"	"PMM2-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301289[PMID]_20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15113"	"2021-09-14"
"GENCC_000110-HGNC_9118-Orphanet_640-HP_0000006-GENCC_100009"	"HGNC:9118"	"PMP22"	"MONDO:0008087"	"hereditary neuropathy with liability to pressure palsies"	"Orphanet:640"	"Orphanet:640"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9118"	"PMP22"	"Orphanet:640"	"Hereditary neuropathy with liability to pressure palsies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15114"	"2021-09-14"
"GENCC_000110-HGNC_9118-Orphanet_64748-HP_0000006-GENCC_100009"	"HGNC:9118"	"PMP22"	"MONDO:0007790"	"Charcot-Marie-Tooth disease type 3"	"Orphanet:64748"	"Orphanet:64748"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9118"	"PMP22"	"Orphanet:64748"	"Dejerine-Sottas syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18698610[PMID]_12090401[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15114"	"2021-09-14"
"GENCC_000110-HGNC_9118-Orphanet_90658-HP_0000006-GENCC_100009"	"HGNC:9118"	"PMP22"	"MONDO:0007311"	"Charcot-Marie-Tooth disease type 1E"	"Orphanet:90658"	"Orphanet:90658"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9118"	"PMP22"	"Orphanet:90658"	"Charcot-Marie-Tooth disease type 1E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15114"	"2021-09-14"
"GENCC_000110-HGNC_9118-Orphanet_101081-HP_0000006-GENCC_100009"	"HGNC:9118"	"PMP22"	"MONDO:0007309"	"Charcot-Marie-Tooth disease type 1A"	"Orphanet:101081"	"Orphanet:101081"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9118"	"PMP22"	"Orphanet:101081"	"Charcot-Marie-Tooth disease type 1A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15114"	"2021-09-14"
"GENCC_000110-HGNC_9122-Orphanet_144-HP_0000006-GENCC_100009"	"HGNC:9122"	"PMS2"	"MONDO:0005835"	"Lynch syndrome"	"Orphanet:144"	"Orphanet:144"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9122"	"PMS2"	"Orphanet:144"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18602922[PMID]_20301390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15116"	"2021-09-14"
"GENCC_000110-HGNC_9122-Orphanet_252202-HP_0000007-GENCC_100009"	"HGNC:9122"	"PMS2"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"Orphanet:252202"	"Orphanet:252202"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9122"	"PMS2"	"Orphanet:252202"	"Constitutional mismatch repair deficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20442441[PMID]_23483711[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15116"	"2021-09-14"
"GENCC_000110-HGNC_9179-Orphanet_726-HP_0000007-GENCC_100009"	"HGNC:9179"	"POLG"	"MONDO:0008758"	"mitochondrial DNA depletion syndrome 4a"	"Orphanet:726"	"Orphanet:726"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9179"	"POLG"	"Orphanet:726"	"Alpers-Huttenlocher syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22237560[PMID]_22000311[PMID]_23545419[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15118"	"2021-09-14"
"GENCC_000110-HGNC_9179-Orphanet_298-HP_0000007-GENCC_100009"	"HGNC:9179"	"POLG"	"MONDO:0017575"	"mitochondrial neurogastrointestinal encephalomyopathy"	"Orphanet:298"	"Orphanet:298"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9179"	"POLG"	"Orphanet:298"	"Mitochondrial neurogastrointestinal encephalomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12825077[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15118"	"2021-09-14"
"GENCC_000110-HGNC_9179-Orphanet_70595-HP_0000007-GENCC_100009"	"HGNC:9179"	"POLG"	"MONDO:0011835"	"sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"	"Orphanet:70595"	"Orphanet:70595"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9179"	"POLG"	"Orphanet:70595"	"Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12565911[PMID]_16919951[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15118"	"2021-09-14"
"GENCC_000110-HGNC_9179-Orphanet_94125-HP_0000007-GENCC_100009"	"HGNC:9179"	"POLG"	"MONDO:0019791"	"recessive mitochondrial ataxia syndrome"	"Orphanet:94125"	"Orphanet:94125"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9179"	"POLG"	"Orphanet:94125"	"Recessive mitochondrial ataxia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15824347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15118"	"2021-09-14"
"GENCC_000110-HGNC_9179-Orphanet_254881-HP_0000007-GENCC_100009"	"HGNC:9179"	"POLG"	"MONDO:0016809"	"spinocerebellar ataxia with epilepsy"	"Orphanet:254881"	"Orphanet:254881"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9179"	"POLG"	"Orphanet:254881"	"Spinocerebellar ataxia with epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15824347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15118"	"2021-09-14"
"GENCC_000110-HGNC_9179-Orphanet_254886-HP_0000007-GENCC_100009"	"HGNC:9179"	"POLG"	"MONDO:0016810"	"autosomal recessive progressive external ophthalmoplegia"	"Orphanet:254886"	"Orphanet:254886"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9179"	"POLG"	"Orphanet:254886"	"Autosomal recessive progressive external ophthalmoplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11431686[PMID]_20301791[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15118"	"2021-09-14"
"GENCC_000110-HGNC_9179-Orphanet_254892-HP_0000006-GENCC_100009"	"HGNC:9179"	"POLG"	"MONDO:0008003"	"autosomal dominant progressive external ophthalmoplegia"	"Orphanet:254892"	"Orphanet:254892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9179"	"POLG"	"Orphanet:254892"	"Autosomal dominant progressive external ophthalmoplegia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11431686[PMID]_20301791[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15118"	"2021-09-14"
"GENCC_000110-HGNC_9180-Orphanet_254892-HP_0000006-GENCC_100009"	"HGNC:9180"	"POLG2"	"MONDO:0008003"	"autosomal dominant progressive external ophthalmoplegia"	"Orphanet:254892"	"Orphanet:254892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9180"	"POLG2"	"Orphanet:254892"	"Autosomal dominant progressive external ophthalmoplegia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21555342[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15119"	"2021-09-14"
"GENCC_000110-HGNC_9181-Orphanet_90342-HP_0000007-GENCC_100009"	"HGNC:9181"	"POLH"	"MONDO:0010214"	"xeroderma pigmentosum variant type"	"Orphanet:90342"	"Orphanet:90342"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9181"	"POLH"	"Orphanet:90342"	"Xeroderma pigmentosum variant"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24130121[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15120"	"2021-09-14"
"GENCC_000110-HGNC_19139-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:19139"	"POMGNT1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19139"	"POMGNT1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26908613[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15121"	"2021-09-14"
"GENCC_000110-HGNC_19139-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:19139"	"POMGNT1"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19139"	"POMGNT1"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19299310[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15121"	"2021-09-14"
"GENCC_000110-HGNC_19139-Orphanet_588-HP_0000007-GENCC_100009"	"HGNC:19139"	"POMGNT1"	"MONDO:0018939"	"muscle-eye-brain disease"	"Orphanet:588"	"Orphanet:588"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19139"	"POMGNT1"	"Orphanet:588"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12788071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15121"	"2021-09-14"
"GENCC_000110-HGNC_19139-Orphanet_206564-HP_0000007-GENCC_100009"	"HGNC:19139"	"POMGNT1"	"MONDO:0013161"	"autosomal recessive limb-girdle muscular dystrophy type 2O"	"Orphanet:206564"	"Orphanet:206564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19139"	"POMGNT1"	"Orphanet:206564"	"POMGNT1-related limb-girdle muscular dystrophy R15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]_18195152[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15121"	"2021-09-14"
"GENCC_000110-HGNC_19139-Orphanet_370959-HP_0000007-GENCC_100009"	"HGNC:19139"	"POMGNT1"	"MONDO:0018277"	"congenital muscular dystrophy with cerebellar involvement"	"Orphanet:370959"	"Orphanet:370959"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19139"	"POMGNT1"	"Orphanet:370959"	"Congenital muscular dystrophy with cerebellar involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15121"	"2021-09-14"
"GENCC_000110-HGNC_9202-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:9202"	"POMT1"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9202"	"POMT1"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19880378[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15122"	"2021-09-14"
"GENCC_000110-HGNC_9202-Orphanet_588-HP_0000007-GENCC_100009"	"HGNC:9202"	"POMT1"	"MONDO:0018939"	"muscle-eye-brain disease"	"Orphanet:588"	"Orphanet:588"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9202"	"POMT1"	"Orphanet:588"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19299310[PMID]_17878207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15122"	"2021-09-14"
"GENCC_000110-HGNC_9202-Orphanet_86812-HP_0000007-GENCC_100009"	"HGNC:9202"	"POMT1"	"MONDO:0012248"	"autosomal recessive limb-girdle muscular dystrophy type 2K"	"Orphanet:86812"	"Orphanet:86812"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9202"	"POMT1"	"Orphanet:86812"	"POMT1-related limb-girdle muscular dystrophy R11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15122"	"2021-09-14"
"GENCC_000110-HGNC_9202-Orphanet_370959-HP_0000007-GENCC_100009"	"HGNC:9202"	"POMT1"	"MONDO:0018277"	"congenital muscular dystrophy with cerebellar involvement"	"Orphanet:370959"	"Orphanet:370959"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9202"	"POMT1"	"Orphanet:370959"	"Congenital muscular dystrophy with cerebellar involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15122"	"2021-09-14"
"GENCC_000110-HGNC_9202-Orphanet_370968-HP_0000007-GENCC_100009"	"HGNC:9202"	"POMT1"	"MONDO:0018278"	"congenital muscular dystrophy with intellectual disability"	"Orphanet:370968"	"Orphanet:370968"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9202"	"POMT1"	"Orphanet:370968"	"Congenital muscular dystrophy with intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15122"	"2021-09-14"
"GENCC_000110-HGNC_9202-Orphanet_370980-HP_0000007-GENCC_100009"	"HGNC:9202"	"POMT1"	"MONDO:0018279"	"congenital muscular dystrophy without intellectual disability"	"Orphanet:370980"	"Orphanet:370980"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9202"	"POMT1"	"Orphanet:370980"	"Congenital muscular dystrophy without intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15122"	"2021-09-14"
"GENCC_000110-HGNC_19743-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:19743"	"POMT2"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19743"	"POMT2"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19880378[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15123"	"2021-09-14"
"GENCC_000110-HGNC_19743-Orphanet_588-HP_0000007-GENCC_100009"	"HGNC:19743"	"POMT2"	"MONDO:0018939"	"muscle-eye-brain disease"	"Orphanet:588"	"Orphanet:588"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19743"	"POMT2"	"Orphanet:588"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19299310[PMID]_17878207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15123"	"2021-09-14"
"GENCC_000110-HGNC_19743-Orphanet_206559-HP_0000007-GENCC_100009"	"HGNC:19743"	"POMT2"	"MONDO:0013162"	"autosomal recessive limb-girdle muscular dystrophy type 2N"	"Orphanet:206559"	"Orphanet:206559"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19743"	"POMT2"	"Orphanet:206559"	"POMT2-related limb-girdle muscular dystrophy R14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15123"	"2021-09-14"
"GENCC_000110-HGNC_19743-Orphanet_370959-HP_0000007-GENCC_100009"	"HGNC:19743"	"POMT2"	"MONDO:0018277"	"congenital muscular dystrophy with cerebellar involvement"	"Orphanet:370959"	"Orphanet:370959"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19743"	"POMT2"	"Orphanet:370959"	"Congenital muscular dystrophy with cerebellar involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15123"	"2021-09-14"
"GENCC_000110-HGNC_19743-Orphanet_370968-HP_0000007-GENCC_100009"	"HGNC:19743"	"POMT2"	"MONDO:0018278"	"congenital muscular dystrophy with intellectual disability"	"Orphanet:370968"	"Orphanet:370968"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19743"	"POMT2"	"Orphanet:370968"	"Congenital muscular dystrophy with intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15123"	"2021-09-14"
"GENCC_000110-HGNC_9208-Orphanet_83-HP_0000006-GENCC_100009"	"HGNC:9208"	"POR"	"MONDO:0008803"	"Antley-Bixler syndrome"	"Orphanet:83"	"Orphanet:83"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9208"	"POR"	"Orphanet:83"	"Antley-Bixler syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15483095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15124"	"2021-09-14"
"GENCC_000110-HGNC_9208-Orphanet_95699-HP_0000007-GENCC_100009"	"HGNC:9208"	"POR"	"MONDO:0013310"	"congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"	"Orphanet:95699"	"Orphanet:95699"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9208"	"POR"	"Orphanet:95699"	"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15124"	"2021-09-14"
"GENCC_000110-HGNC_9210-Orphanet_95494-HP_0000006-GENCC_100009"	"HGNC:9210"	"POU1F1"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"Orphanet:95494"	"Orphanet:95494"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9210"	"POU1F1"	"Orphanet:95494"	"Combined pituitary hormone deficiencies, genetic forms"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15670191[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15125"	"2021-09-14"
"GENCC_000110-HGNC_9210-Orphanet_226307-HP_0000006-GENCC_100009"	"HGNC:9210"	"POU1F1"	"MONDO:0016411"	"hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"Orphanet:226307"	"Orphanet:226307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9210"	"POU1F1"	"Orphanet:226307"	"Hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_22851492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15125"	"2021-09-14"
"GENCC_000110-HGNC_9210-Orphanet_231679-HP_0000006-GENCC_100009"	"HGNC:9210"	"POU1F1"	"MONDO:0008250"	"isolated growth hormone deficiency type II"	"Orphanet:231679"	"Orphanet:231679"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9210"	"POU1F1"	"Orphanet:231679"	"Isolated growth hormone deficiency type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26612202[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15125"	"2021-09-14"
"GENCC_000110-HGNC_9217-Orphanet_1435-HP_0001417-GENCC_100009"	"HGNC:9217"	"POU3F4"	"MONDO:0010558"	"choroideremia-deafness-obesity syndrome"	"Orphanet:1435"	"Orphanet:1435"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9217"	"POU3F4"	"Orphanet:1435"	"Xq21 microdeletion syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17935254[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15126"	"2021-09-14"
"GENCC_000110-HGNC_9217-Orphanet_90641-HP_0001427-GENCC_100009"	"HGNC:9217"	"POU3F4"	"MONDO:0010779"	"mitochondrial non-syndromic sensorineural hearing loss"	"Orphanet:90641"	"Orphanet:90641"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:9217"	"POU3F4"	"Orphanet:90641"	"Mitochondrial non-syndromic sensorineural deafness"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19930154[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15126"	"2021-09-14"
"GENCC_000110-HGNC_9220-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:9220"	"POU4F3"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9220"	"POU4F3"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15127"	"2021-09-14"
"GENCC_000110-HGNC_9236-Orphanet_528-HP_0000007-GENCC_100009"	"HGNC:9236"	"PPARG"	"MONDO:0018883"	"Berardinelli-Seip congenital lipodystrophy"	"Orphanet:528"	"Orphanet:528"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9236"	"PPARG"	"Orphanet:528"	"Congenital generalized lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24980513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15129"	"2021-09-14"
"GENCC_000110-HGNC_9236-Orphanet_79083-HP_0000006-GENCC_100009"	"HGNC:9236"	"PPARG"	"MONDO:0011448"	"PPARG-related familial partial lipodystrophy"	"Orphanet:79083"	"Orphanet:79083"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9236"	"PPARG"	"Orphanet:79083"	"PPARG-related familial partial lipodystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12453919[PMID]_11788685[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15129"	"2021-09-14"
"GENCC_000110-HGNC_9280-Orphanet_79473-HP_0000006-GENCC_100009"	"HGNC:9280"	"PPOX"	"MONDO:0008297"	"variegate porphyria"	"Orphanet:79473"	"Orphanet:79473"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9280"	"PPOX"	"Orphanet:79473"	"Porphyria variegata"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23409300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15130"	"2021-09-14"
"GENCC_000110-HGNC_9305-Orphanet_98762-HP_0000006-GENCC_100009"	"HGNC:9305"	"PPP2R2B"	"MONDO:0011439"	"spinocerebellar ataxia type 12"	"Orphanet:98762"	"Orphanet:98762"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9305"	"PPP2R2B"	"Orphanet:98762"	"Spinocerebellar ataxia type 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15131"	"2021-09-14"
"GENCC_000110-HGNC_9325-Orphanet_228329-HP_0000007-GENCC_100009"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"Orphanet:228329"	"Orphanet:228329"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9325"	"PPT1"	"Orphanet:228329"	"CLN1 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15132"	"2021-09-14"
"GENCC_000110-HGNC_9330-Orphanet_93945-HP_0001417-GENCC_100009"	"HGNC:9330"	"PQBP1"	"MONDO:0019766"	"X-linked intellectual disability, Porteous type"	"Orphanet:93945"	"Orphanet:93945"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9330"	"PQBP1"	"Orphanet:93945"	"X-linked intellectual disability, Porteous type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15133"	"2021-09-14"
"GENCC_000110-HGNC_9330-Orphanet_93946-HP_0001417-GENCC_100009"	"HGNC:9330"	"PQBP1"	"MONDO:0019767"	"hamel cerebro-palato-cardiac syndrome"	"Orphanet:93946"	"Orphanet:93946"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9330"	"PQBP1"	"Orphanet:93946"	"Hamel cerebro-palato-cardiac syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15133"	"2021-09-14"
"GENCC_000110-HGNC_9330-Orphanet_93947-HP_0001417-GENCC_100009"	"HGNC:9330"	"PQBP1"	"MONDO:0019768"	"X-linked intellectual disability, Golabi-Ito-hall type"	"Orphanet:93947"	"Orphanet:93947"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9330"	"PQBP1"	"Orphanet:93947"	"X-linked intellectual disability, Golabi-Ito-Hall type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15133"	"2021-09-14"
"GENCC_000110-HGNC_9330-Orphanet_93950-HP_0001417-GENCC_100009"	"HGNC:9330"	"PQBP1"	"MONDO:0019769"	"X-linked intellectual disability, Sutherland-Haan type"	"Orphanet:93950"	"Orphanet:93950"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9330"	"PQBP1"	"Orphanet:93950"	"X-linked intellectual disability, Sutherland-Haan type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15133"	"2021-09-14"
"GENCC_000110-HGNC_32528-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:32528"	"PRCD"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:32528"	"PRCD"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15135"	"2021-09-14"
"GENCC_000110-HGNC_9360-Orphanet_540-HP_0000007-GENCC_100009"	"HGNC:9360"	"PRF1"	"MONDO:0015541"	"hereditary hemophagocytic lymphohistiocytosis"	"Orphanet:540"	"Orphanet:540"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9360"	"PRF1"	"Orphanet:540"	"Familial hemophagocytic lymphohistiocytosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11179007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15136"	"2021-09-14"
"GENCC_000110-HGNC_9360-Orphanet_391343-HP_0000007-GENCC_100009"	"HGNC:9360"	"PRF1"	"MONDO:0018316"	"fatal post-viral neurodegenerative disorder"	"Orphanet:391343"	"Orphanet:391343"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9360"	"PRF1"	"Orphanet:391343"	"Fatal post-viral neurodegenerative disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23443029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15136"	"2021-09-14"
"GENCC_000110-HGNC_9388-Orphanet_950-HP_0000006-GENCC_100009"	"HGNC:9388"	"PRKAR1A"	"MONDO:0019797"	"acrodysostosis"	"Orphanet:950"	"Orphanet:950"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9388"	"PRKAR1A"	"Orphanet:950"	"Acrodysostosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21651393[PMID]_22464250[PMID]_22464252[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15139"	"2021-09-14"
"GENCC_000110-HGNC_9388-Orphanet_1359-HP_0000006-GENCC_100009"	"HGNC:9388"	"PRKAR1A"	"MONDO:0015285"	"Carney complex"	"Orphanet:1359"	"Orphanet:1359"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9388"	"PRKAR1A"	"Orphanet:1359"	"Carney complex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301463[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15139"	"2021-09-14"
"GENCC_000110-HGNC_9388-Orphanet_615-HP_0000006-GENCC_100009"	"HGNC:9388"	"PRKAR1A"	"MONDO:0009719"	"familial atrial myxoma"	"Orphanet:615"	"Orphanet:615"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9388"	"PRKAR1A"	"Orphanet:615"	"Familial atrial myxoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10973256[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15139"	"2021-09-14"
"GENCC_000110-HGNC_9388-Orphanet_189439-HP_0000006-GENCC_100009"	"HGNC:9388"	"PRKAR1A"	"MONDO:0015999"	"primary pigmented nodular adrenocortical disease"	"Orphanet:189439"	"Orphanet:189439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9388"	"PRKAR1A"	"Orphanet:189439"	"Primary pigmented nodular adrenocortical disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24805858[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15139"	"2021-09-14"
"GENCC_000110-HGNC_9388-Orphanet_280651-HP_0000006-GENCC_100009"	"HGNC:9388"	"PRKAR1A"	"MONDO:0017240"	"acrodysostosis with multiple hormone resistance"	"Orphanet:280651"	"Orphanet:280651"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9388"	"PRKAR1A"	"Orphanet:280651"	"Acrodysostosis with multiple hormone resistance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21651393[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15139"	"2021-09-14"
"GENCC_000110-HGNC_9402-Orphanet_98763-HP_0000006-GENCC_100009"	"HGNC:9402"	"PRKCG"	"MONDO:0011540"	"spinocerebellar ataxia type 14"	"Orphanet:98763"	"Orphanet:98763"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9402"	"PRKCG"	"Orphanet:98763"	"Spinocerebellar ataxia type 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15140"	"2021-09-14"
"GENCC_000110-HGNC_9411-Orphanet_2924-HP_0000006-GENCC_100009"	"HGNC:9411"	"PRKCSH"	"MONDO:0008265"	"polycystic liver disease 1"	"Orphanet:2924"	"Orphanet:2924"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9411"	"PRKCSH"	"Orphanet:2924"	"Isolated polycystic liver disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24886261[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15141"	"2021-09-14"
"GENCC_000110-HGNC_9449-Orphanet_356-HP_0000006-GENCC_100009"	"HGNC:9449"	"PRNP"	"MONDO:0007656"	"Gerstmann-Straussler-Scheinker syndrome"	"Orphanet:356"	"Orphanet:356"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9449"	"PRNP"	"Orphanet:356"	"Gerstmann-Straussler-Scheinker syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301407[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15142"	"2021-09-14"
"GENCC_000110-HGNC_9449-Orphanet_466-HP_0000006-GENCC_100009"	"HGNC:9449"	"PRNP"	"MONDO:0010808"	"fatal familial insomnia"	"Orphanet:466"	"Orphanet:466"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9449"	"PRNP"	"Orphanet:466"	"Fatal familial insomnia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301407[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15142"	"2021-09-14"
"GENCC_000110-HGNC_9449-Orphanet_157941-HP_0000006-GENCC_100009"	"HGNC:9449"	"PRNP"	"MONDO:0011299"	"Huntington disease-like 1"	"Orphanet:157941"	"Orphanet:157941"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9449"	"PRNP"	"Orphanet:157941"	"Huntington disease-like 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11593450[PMID]_24275071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15142"	"2021-09-14"
"GENCC_000110-HGNC_9449-Orphanet_280397-HP_0000006-GENCC_100009"	"HGNC:9449"	"PRNP"	"MONDO:0017233"	"familial Alzheimer-like prion disease"	"Orphanet:280397"	"Orphanet:280397"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9449"	"PRNP"	"Orphanet:280397"	"Familial Alzheimer-like prion disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21416485[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15142"	"2021-09-14"
"GENCC_000110-HGNC_9449-Orphanet_282166-HP_0000006-GENCC_100009"	"HGNC:9449"	"PRNP"	"MONDO:0007403"	"inherited Creutzfeldt-Jakob disease"	"Orphanet:282166"	"Orphanet:282166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9449"	"PRNP"	"Orphanet:282166"	"Inherited Creutzfeldt-Jakob disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10790216[PMID]_20301407[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15142"	"2021-09-14"
"GENCC_000110-HGNC_9449-Orphanet_397606-HP_0000006-GENCC_100009"	"HGNC:9449"	"PRNP"	"MONDO:0018339"	"PrP systemic amyloidosis"	"Orphanet:397606"	"Orphanet:397606"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9449"	"PRNP"	"Orphanet:397606"	"PrP systemic amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24224623[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15142"	"2021-09-14"
"GENCC_000110-HGNC_9451-Orphanet_745-HP_0000006-GENCC_100009"	"HGNC:9451"	"PROC"	"MONDO:0019145"	"hereditary thrombophilia due to congenital protein C deficiency"	"Orphanet:745"	"Orphanet:745"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9451"	"PROC"	"Orphanet:745"	"Severe hereditary thrombophilia due to congenital protein C deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23521084[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15143"	"2021-09-14"
"GENCC_000110-HGNC_9453-Orphanet_419-HP_0000007-GENCC_100009"	"HGNC:9453"	"PRODH"	"MONDO:0009400"	"hyperprolinemia type 1"	"Orphanet:419"	"Orphanet:419"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9453"	"PRODH"	"Orphanet:419"	"Hyperprolinemia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20524212[PMID]_23462603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15144"	"2021-09-14"
"GENCC_000110-HGNC_18455-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:18455"	"PROK2"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18455"	"PROK2"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18682503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15145"	"2021-09-14"
"GENCC_000110-HGNC_18455-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:18455"	"PROK2"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18455"	"PROK2"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17959774[PMID]_18682503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15145"	"2021-09-14"
"GENCC_000110-HGNC_15836-Orphanet_3157-HP_0000006-GENCC_100009"	"HGNC:15836"	"PROKR2"	"MONDO:0008428"	"septooptic dysplasia"	"Orphanet:3157"	"Orphanet:3157"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15836"	"PROKR2"	"Orphanet:3157"	"Septo-optic dysplasia spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22319038[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15146"	"2021-09-14"
"GENCC_000110-HGNC_15836-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:15836"	"PROKR2"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15836"	"PROKR2"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18682503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15146"	"2021-09-14"
"GENCC_000110-HGNC_15836-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:15836"	"PROKR2"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15836"	"PROKR2"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18682503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15146"	"2021-09-14"
"GENCC_000110-HGNC_9455-Orphanet_90695-HP_0000007-GENCC_100009"	"HGNC:9455"	"PROP1"	"MONDO:0019591"	"panhypopituitarism"	"Orphanet:90695"	"Orphanet:90695"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9455"	"PROP1"	"Orphanet:90695"	"Non-acquired panhypopituitarism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15147"	"2021-09-14"
"GENCC_000110-HGNC_9455-Orphanet_95494-HP_0000006-GENCC_100009"	"HGNC:9455"	"PROP1"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"Orphanet:95494"	"Orphanet:95494"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9455"	"PROP1"	"Orphanet:95494"	"Combined pituitary hormone deficiencies, genetic forms"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9462743[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15147"	"2021-09-14"
"GENCC_000110-HGNC_9455-Orphanet_226307-HP_0000006-GENCC_100009"	"HGNC:9455"	"PROP1"	"MONDO:0016411"	"hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"Orphanet:226307"	"Orphanet:226307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9455"	"PROP1"	"Orphanet:226307"	"Hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_22851492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15147"	"2021-09-14"
"GENCC_000110-HGNC_9456-Orphanet_743-HP_0000007-GENCC_100009"	"HGNC:9456"	"PROS1"	"MONDO:0019144"	"hereditary thrombophilia due to congenital protein S deficiency"	"Orphanet:743"	"Orphanet:743"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9456"	"PROS1"	"Orphanet:743"	"Severe hereditary thrombophilia due to congenital protein S deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17849042[PMID]_19466456[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15148"	"2021-09-14"
"GENCC_000110-HGNC_17348-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:17348"	"PRPF3"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17348"	"PRPF3"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15149"	"2021-09-14"
"GENCC_000110-HGNC_15446-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:15446"	"PRPF31"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15446"	"PRPF31"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15150"	"2021-09-14"
"GENCC_000110-HGNC_17340-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:17340"	"PRPF8"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17340"	"PRPF8"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15151"	"2021-09-14"
"GENCC_000110-HGNC_9942-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:9942"	"PRPH2"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9942"	"PRPH2"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15152"	"2021-09-14"
"GENCC_000110-HGNC_9942-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:9942"	"PRPH2"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9942"	"PRPH2"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9279751[PMID]_23563732[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15152"	"2021-09-14"
"GENCC_000110-HGNC_9942-Orphanet_52427-HP_0000006-GENCC_100009"	"HGNC:9942"	"PRPH2"	"MONDO:0018877"	"retinitis punctata albescens"	"Orphanet:52427"	"Orphanet:52427"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9942"	"PRPH2"	"Orphanet:52427"	"Retinitis punctata albescens"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8485575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15152"	"2021-09-14"
"GENCC_000110-HGNC_9942-Orphanet_75377-HP_0000006-GENCC_100009"	"HGNC:9942"	"PRPH2"	"MONDO:0008982"	"central areolar choroidal dystrophy"	"Orphanet:75377"	"Orphanet:75377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9942"	"PRPH2"	"Orphanet:75377"	"Central areolar choroidal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14557183[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15152"	"2021-09-14"
"GENCC_000110-HGNC_9942-Orphanet_99000-HP_0000006-GENCC_100009"	"HGNC:9942"	"PRPH2"	"MONDO:0011979"	"adult-onset foveomacular vitelliform dystrophy"	"Orphanet:99000"	"Orphanet:99000"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9942"	"PRPH2"	"Orphanet:99000"	"Adult-onset foveomacular vitelliform dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9338584[PMID]_10854112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15152"	"2021-09-14"
"GENCC_000110-HGNC_9942-Orphanet_99001-HP_0000006-GENCC_100009"	"HGNC:9942"	"PRPH2"	"MONDO:0020381"	"patterned macular dystrophy"	"Orphanet:99001"	"Orphanet:99001"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9942"	"PRPH2"	"Orphanet:99001"	"Butterfly-shaped pigment dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8485574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15152"	"2021-09-14"
"GENCC_000110-HGNC_9942-Orphanet_99003-HP_0000006-GENCC_100009"	"HGNC:9942"	"PRPH2"	"MONDO:0020382"	"multifocal pattern dystrophy simulating fundus flavimaculatus"	"Orphanet:99003"	"Orphanet:99003"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9942"	"PRPH2"	"Orphanet:99003"	"Multifocal pattern dystrophy simulating fundus flavimaculatus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17504850[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15152"	"2021-09-14"
"GENCC_000110-HGNC_9462-Orphanet_1187-HP_0001417-GENCC_100009"	"HGNC:9462"	"PRPS1"	"MONDO:0010533"	"Arts syndrome"	"Orphanet:1187"	"Orphanet:1187"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9462"	"PRPS1"	"Orphanet:1187"	"Lethal ataxia with deafness and optic atrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301738[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15153"	"2021-09-14"
"GENCC_000110-HGNC_9462-Orphanet_90625-HP_0001417-GENCC_100009"	"HGNC:9462"	"PRPS1"	"MONDO:0019586"	"X-linked nonsyndromic hearing loss"	"Orphanet:90625"	"Orphanet:90625"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9462"	"PRPS1"	"Orphanet:90625"	"X-linked non-syndromic sensorineural deafness type DFN"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15153"	"2021-09-14"
"GENCC_000110-HGNC_9462-Orphanet_99014-HP_0001417-GENCC_100009"	"HGNC:9462"	"PRPS1"	"MONDO:0010699"	"Charcot-Marie-Tooth disease X-linked recessive 5"	"Orphanet:99014"	"Orphanet:99014"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9462"	"PRPS1"	"Orphanet:99014"	"X-linked Charcot-Marie-Tooth disease type 5"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301731[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15153"	"2021-09-14"
"GENCC_000110-HGNC_9462-Orphanet_411536-HP_0001417-GENCC_100009"	"HGNC:9462"	"PRPS1"	"MONDO:0018463"	"mild phosphoribosylpyrophosphate synthetase superactivity"	"Orphanet:411536"	"Orphanet:411536"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9462"	"PRPS1"	"Orphanet:411536"	"Mild phosphoribosylpyrophosphate synthetase superactivity"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301734PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15153"	"2021-09-14"
"GENCC_000110-HGNC_9462-Orphanet_411543-HP_0001417-GENCC_100009"	"HGNC:9462"	"PRPS1"	"MONDO:0018464"	"severe phosphoribosylpyrophosphate synthetase superactivity"	"Orphanet:411543"	"Orphanet:411543"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9462"	"PRPS1"	"Orphanet:411543"	"Severe phosphoribosylpyrophosphate synthetase superactivity"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301734[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15153"	"2021-09-14"
"GENCC_000110-HGNC_9462-Orphanet_423479-HP_0001417-GENCC_100009"	"HGNC:9462"	"PRPS1"	"MONDO:0018495"	"X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome"	"Orphanet:423479"	"Orphanet:423479"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9462"	"PRPS1"	"Orphanet:423479"	"X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24961627[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15153"	"2021-09-14"
"GENCC_000110-HGNC_9475-Orphanet_676-HP_0000006-GENCC_100009"	"HGNC:9475"	"PRSS1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"Orphanet:676"	"Orphanet:676"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9475"	"PRSS1"	"Orphanet:676"	"Hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23864476[PMID]_22379635[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15155"	"2021-09-14"
"GENCC_000110-HGNC_9477-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:9477"	"PRSS12"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9477"	"PRSS12"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12459588[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15156"	"2021-09-14"
"GENCC_000110-HGNC_13797-Orphanet_64748-HP_0000006-GENCC_100009"	"HGNC:13797"	"PRX"	"MONDO:0007790"	"Charcot-Marie-Tooth disease type 3"	"Orphanet:64748"	"Orphanet:64748"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13797"	"PRX"	"Orphanet:64748"	"Dejerine-Sottas syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11133365[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15158"	"2021-09-14"
"GENCC_000110-HGNC_13797-Orphanet_99952-HP_0000007-GENCC_100009"	"HGNC:13797"	"PRX"	"MONDO:0013959"	"Charcot-Marie-Tooth disease type 4F"	"Orphanet:99952"	"Orphanet:99952"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13797"	"PRX"	"Orphanet:99952"	"Charcot-Marie-Tooth disease type 4F"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15158"	"2021-09-14"
"GENCC_000110-HGNC_9498-Orphanet_139406-HP_0000007-GENCC_100009"	"HGNC:9498"	"PSAP"	"MONDO:0012719"	"combined PSAP deficiency"	"Orphanet:139406"	"Orphanet:139406"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9498"	"PSAP"	"Orphanet:139406"	"Encephalopathy due to prosaposin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1371116[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15159"	"2021-09-14"
"GENCC_000110-HGNC_9508-Orphanet_1020-HP_0000006-GENCC_100009"	"HGNC:9508"	"PSEN1"	"MONDO:0015140"	"early-onset autosomal dominant Alzheimer disease"	"Orphanet:1020"	"Orphanet:1020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9508"	"PSEN1"	"Orphanet:1020"	"Early-onset autosomal dominant Alzheimer disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301414[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15160"	"2021-09-14"
"GENCC_000110-HGNC_9508-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:9508"	"PSEN1"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9508"	"PSEN1"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17186461[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15160"	"2021-09-14"
"GENCC_000110-HGNC_9508-Orphanet_275864-HP_0000006-GENCC_100009"	"HGNC:9508"	"PSEN1"	"MONDO:0017160"	"behavioral variant of frontotemporal dementia"	"Orphanet:275864"	"Orphanet:275864"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9508"	"PSEN1"	"Orphanet:275864"	"Behavioral variant of frontotemporal dementia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11094121[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15160"	"2021-09-14"
"GENCC_000110-HGNC_9509-Orphanet_1020-HP_0000006-GENCC_100009"	"HGNC:9509"	"PSEN2"	"MONDO:0015140"	"early-onset autosomal dominant Alzheimer disease"	"Orphanet:1020"	"Orphanet:1020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9509"	"PSEN2"	"Orphanet:1020"	"Early-onset autosomal dominant Alzheimer disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301414[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15161"	"2021-09-14"
"GENCC_000110-HGNC_9509-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:9509"	"PSEN2"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9509"	"PSEN2"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17186461[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15161"	"2021-09-14"
"GENCC_000110-HGNC_9577-Orphanet_79350-HP_0000007-GENCC_100009"	"HGNC:9577"	"PSPH"	"MONDO:0013531"	"PSPH deficiency"	"Orphanet:79350"	"Orphanet:79350"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9577"	"PSPH"	"Orphanet:79350"	"3-phosphoserine phosphatase deficiency, infantile/juvenile form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14673469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15162"	"2021-09-14"
"GENCC_000110-HGNC_9580-Orphanet_69126-HP_0000006-GENCC_100009"	"HGNC:9580"	"PSTPIP1"	"MONDO:0011462"	"pyogenic arthritis-pyoderma gangrenosum-acne syndrome"	"Orphanet:69126"	"Orphanet:69126"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9580"	"PSTPIP1"	"Orphanet:69126"	"Pyogenic arthritis-pyoderma gangrenosum-acne syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15163"	"2021-09-14"
"GENCC_000110-HGNC_9580-Orphanet_251523-HP_0000005-GENCC_100009"	"HGNC:9580"	"PSTPIP1"	"MONDO:0016676"	"recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome"	"Orphanet:251523"	"Orphanet:251523"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:9580"	"PSTPIP1"	"Orphanet:251523"	"Hyperzincemia and hypercalprotectinemia"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26025129[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15163"	"2021-09-14"
"GENCC_000110-HGNC_9585-Orphanet_377-HP_0000006-GENCC_100009"	"HGNC:9585"	"PTCH1"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"Orphanet:377"	"Orphanet:377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9585"	"PTCH1"	"Orphanet:377"	"Gorlin syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301330[PMID]_19032739[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15164"	"2021-09-14"
"GENCC_000110-HGNC_9586-Orphanet_377-HP_0000006-GENCC_100009"	"HGNC:9586"	"PTCH2"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"Orphanet:377"	"Orphanet:377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9586"	"PTCH2"	"Orphanet:377"	"Gorlin syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18285427[PMID]_23479190[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15165"	"2021-09-14"
"GENCC_000110-HGNC_9586-Orphanet_141276-HP_0000006-GENCC_100009"	"HGNC:9586"	"PTCH2"	"MONDO:0013300"	"commissural facial cleft"	"Orphanet:141276"	"Orphanet:141276"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9586"	"PTCH2"	"Orphanet:141276"	"Tessier number 7 facial cleft"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19208383[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15165"	"2021-09-14"
"GENCC_000110-HGNC_9588-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:9588"	"PTEN"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9588"	"PTEN"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15166"	"2021-09-14"
"GENCC_000110-HGNC_9588-Orphanet_109-HP_0000006-GENCC_100009"	"HGNC:9588"	"PTEN"	"MONDO:0007924"	"Bannayan-Riley-Ruvalcaba syndrome"	"Orphanet:109"	"Orphanet:109"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9588"	"PTEN"	"Orphanet:109"	"Bannayan-Riley-Ruvalcaba syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301661[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15166"	"2021-09-14"
"GENCC_000110-HGNC_9588-Orphanet_2969-HP_0000006-GENCC_100009"	"HGNC:9588"	"PTEN"	"MONDO:0017571"	"Proteus-like syndrome"	"Orphanet:2969"	"Orphanet:2969"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9588"	"PTEN"	"Orphanet:2969"	"Proteus-like syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10749983[PMID]_20301661[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15166"	"2021-09-14"
"GENCC_000110-HGNC_9588-Orphanet_65285-HP_0000006-GENCC_100009"	"HGNC:9588"	"PTEN"	"MONDO:0019002"	"Lhermitte-Duclos disease"	"Orphanet:65285"	"Orphanet:65285"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9588"	"PTEN"	"Orphanet:65285"	"Lhermitte-Duclos disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14566704[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15166"	"2021-09-14"
"GENCC_000110-HGNC_9588-Orphanet_210548-HP_0000006-GENCC_100009"	"HGNC:9588"	"PTEN"	"MONDO:0011537"	"macrocephaly-autism syndrome"	"Orphanet:210548"	"Orphanet:210548"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9588"	"PTEN"	"Orphanet:210548"	"Macrocephaly-intellectual disability-autism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15805158[PMID]_17286265[PMID]_19265751[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15166"	"2021-09-14"
"GENCC_000110-HGNC_9588-Orphanet_397596-HP_0000006-GENCC_100009"	"HGNC:9588"	"PTEN"	"MONDO:0018338"	"activated PI3K-delta syndrome"	"Orphanet:397596"	"Orphanet:397596"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9588"	"PTEN"	"Orphanet:397596"	"Activated PI3K-delta syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27426521[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15166"	"2021-09-14"
"GENCC_000110-HGNC_23734-Orphanet_2805-HP_0000007-GENCC_100009"	"HGNC:23734"	"PTF1A"	"MONDO:0009832"	"pancreatic agenesis"	"Orphanet:2805"	"Orphanet:2805"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23734"	"PTF1A"	"Orphanet:2805"	"Partial pancreatic agenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24212882[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15167"	"2021-09-14"
"GENCC_000110-HGNC_23734-Orphanet_65288-HP_0000007-GENCC_100009"	"HGNC:23734"	"PTF1A"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"Orphanet:65288"	"Orphanet:65288"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23734"	"PTF1A"	"Orphanet:65288"	"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15543146[PMID]_20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15167"	"2021-09-14"
"GENCC_000110-HGNC_9606-Orphanet_189466-HP_0000006-GENCC_100009"	"HGNC:9606"	"PTH"	"MONDO:0016000"	"familial isolated hypoparathyroidism due to impaired PTH secretion"	"Orphanet:189466"	"Orphanet:189466"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9606"	"PTH"	"Orphanet:189466"	"Familial isolated hypoparathyroidism due to impaired PTH secretion"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"2212001[PMID]_10523031[PMID]_22722080[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15168"	"2021-09-14"
"GENCC_000110-HGNC_9608-Orphanet_33067-HP_0000006-GENCC_100009"	"HGNC:9608"	"PTH1R"	"MONDO:0007982"	"metaphyseal chondrodysplasia, Jansen type"	"Orphanet:33067"	"Orphanet:33067"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9608"	"PTH1R"	"Orphanet:33067"	"Metaphyseal chondrodysplasia, Jansen type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7701349[PMID]_8703170[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15169"	"2021-09-14"
"GENCC_000110-HGNC_9608-Orphanet_50945-HP_0000007-GENCC_100009"	"HGNC:9608"	"PTH1R"	"MONDO:0008970"	"chondrodysplasia Blomstrand type"	"Orphanet:50945"	"Orphanet:50945"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9608"	"PTH1R"	"Orphanet:50945"	"Blomstrand lethal chondrodysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9832466[PMID]_9745456[PMID]_9649554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15169"	"2021-09-14"
"GENCC_000110-HGNC_9608-Orphanet_79106-HP_0000007-GENCC_100009"	"HGNC:9608"	"PTH1R"	"MONDO:0010803"	"Eiken syndrome"	"Orphanet:79106"	"Orphanet:79106"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9608"	"PTH1R"	"Orphanet:79106"	"Eiken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15525660[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15169"	"2021-09-14"
"GENCC_000110-HGNC_9608-Orphanet_412206-HP_0000006-GENCC_100009"	"HGNC:9608"	"PTH1R"	"MONDO:0007434"	"primary failure of tooth eruption"	"Orphanet:412206"	"Orphanet:412206"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9608"	"PTH1R"	"Orphanet:412206"	"Primary failure of tooth eruption"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19061984[PMID]_23910200[PMID]_20830195[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15169"	"2021-09-14"
"GENCC_000110-HGNC_9644-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:9644"	"PTPN11"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9644"	"PTPN11"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19760651[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15170"	"2021-09-14"
"GENCC_000110-HGNC_9644-Orphanet_500-HP_0000006-GENCC_100009"	"HGNC:9644"	"PTPN11"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"Orphanet:500"	"Orphanet:500"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9644"	"PTPN11"	"Orphanet:500"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301557[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15170"	"2021-09-14"
"GENCC_000110-HGNC_9644-Orphanet_2499-HP_0000006-GENCC_100009"	"HGNC:9644"	"PTPN11"	"MONDO:0007979"	"metachondromatosis"	"Orphanet:2499"	"Orphanet:2499"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9644"	"PTPN11"	"Orphanet:2499"	"Metachondromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21533187[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15170"	"2021-09-14"
"GENCC_000110-HGNC_9666-Orphanet_169157-HP_0000007-GENCC_100009"	"HGNC:9666"	"PTPRC"	"MONDO:0015702"	"T-B+ severe combined immunodeficiency due to CD45 deficiency"	"Orphanet:169157"	"Orphanet:169157"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9666"	"PTPRC"	"Orphanet:169157"	"T-B+ severe combined immunodeficiency due to CD45 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11145714[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15171"	"2021-09-14"
"GENCC_000110-HGNC_9689-Orphanet_13-HP_0000007-GENCC_100009"	"HGNC:9689"	"PTS"	"MONDO:0009863"	"BH4-deficient hyperphenylalaninemia A"	"Orphanet:13"	"Orphanet:13"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9689"	"PTS"	"Orphanet:13"	"6-pyruvoyl-tetrahydropterin synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15172"	"2021-09-14"
"GENCC_000110-HGNC_15508-Orphanet_2598-HP_0000007-GENCC_100009"	"HGNC:15508"	"PUS1"	"MONDO:0000863"	"myopathy, lactic acidosis, and sideroblastic anemia"	"Orphanet:2598"	"Orphanet:2598"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15508"	"PUS1"	"Orphanet:2598"	"Mitochondrial myopathy and sideroblastic anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21686963[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15173"	"2021-09-14"
"GENCC_000110-HGNC_9706-Orphanet_3253-HP_0000007-GENCC_100009"	"HGNC:9706"	"NECTIN1"	"MONDO:0009151"	"cleft lip/palate-ectodermal dysplasia syndrome"	"Orphanet:3253"	"Orphanet:3253"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9706"	"NECTIN1"	"Orphanet:3253"	"Cleft lip/palate-ectodermal dysplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10932188[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15174"	"2021-09-14"
"GENCC_000110-HGNC_9717-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:9717"	"PEX2"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9717"	"PEX2"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15175"	"2021-09-14"
"GENCC_000110-HGNC_9725-Orphanet_369-HP_0000007-GENCC_100009"	"HGNC:9725"	"PYGL"	"MONDO:0009294"	"glycogen storage disease VI"	"Orphanet:369"	"Orphanet:369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9725"	"PYGL"	"Orphanet:369"	"Glycogen storage disease due to liver glycogen phosphorylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15176"	"2021-09-14"
"GENCC_000110-HGNC_9726-Orphanet_368-HP_0000007-GENCC_100009"	"HGNC:9726"	"PYGM"	"MONDO:0009293"	"glycogen storage disease V"	"Orphanet:368"	"Orphanet:368"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9726"	"PYGM"	"Orphanet:368"	"Glycogen storage disease due to muscle glycogen phosphorylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15177"	"2021-09-14"
"GENCC_000110-HGNC_9752-Orphanet_226-HP_0000007-GENCC_100009"	"HGNC:9752"	"QDPR"	"MONDO:0009862"	"dihydropteridine reductase deficiency"	"Orphanet:226"	"Orphanet:226"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9752"	"QDPR"	"Orphanet:226"	"Dihydropteridine reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9744478[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15178"	"2021-09-14"
"GENCC_000110-HGNC_9766-Orphanet_79477-HP_0000007-GENCC_100009"	"HGNC:9766"	"RAB27A"	"MONDO:0011872"	"Griscelli syndrome type 2"	"Orphanet:79477"	"Orphanet:79477"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9766"	"RAB27A"	"Orphanet:79477"	"Griscelli syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15179"	"2021-09-14"
"GENCC_000110-HGNC_17063-Orphanet_1387-HP_0000007-GENCC_100009"	"HGNC:17063"	"RAB3GAP1"	"MONDO:0008929"	"cataract-intellectual disability-hypogonadism syndrome"	"Orphanet:1387"	"Orphanet:1387"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17063"	"RAB3GAP1"	"Orphanet:1387"	"Cataract-intellectual disability-hypogonadism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23420520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15180"	"2021-09-14"
"GENCC_000110-HGNC_17063-Orphanet_2510-HP_0000007-GENCC_100009"	"HGNC:17063"	"RAB3GAP1"	"MONDO:0016649"	"Warburg micro syndrome"	"Orphanet:2510"	"Orphanet:2510"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17063"	"RAB3GAP1"	"Orphanet:2510"	"Micro syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23420520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15180"	"2021-09-14"
"GENCC_000110-HGNC_17168-Orphanet_1387-HP_0000007-GENCC_100009"	"HGNC:17168"	"RAB3GAP2"	"MONDO:0008929"	"cataract-intellectual disability-hypogonadism syndrome"	"Orphanet:1387"	"Orphanet:1387"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17168"	"RAB3GAP2"	"Orphanet:1387"	"Cataract-intellectual disability-hypogonadism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23420520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15181"	"2021-09-14"
"GENCC_000110-HGNC_17168-Orphanet_2510-HP_0000007-GENCC_100009"	"HGNC:17168"	"RAB3GAP2"	"MONDO:0016649"	"Warburg micro syndrome"	"Orphanet:2510"	"Orphanet:2510"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17168"	"RAB3GAP2"	"Orphanet:2510"	"Micro syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23420520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15181"	"2021-09-14"
"GENCC_000110-HGNC_17168-Orphanet_401830-HP_0000007-GENCC_100009"	"HGNC:17168"	"RAB3GAP2"	"MONDO:0018421"	"autosomal recessive spastic paraplegia type 69"	"Orphanet:401830"	"Orphanet:401830"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17168"	"RAB3GAP2"	"Orphanet:401830"	"Autosomal recessive spastic paraplegia type 69"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15181"	"2021-09-14"
"GENCC_000110-HGNC_9788-Orphanet_99936-HP_0000006-GENCC_100009"	"HGNC:9788"	"RAB7A"	"MONDO:0010949"	"Charcot-Marie-Tooth disease type 2B"	"Orphanet:99936"	"Orphanet:99936"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9788"	"RAB7A"	"Orphanet:99936"	"Autosomal dominant Charcot-Marie-Tooth disease type 2B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15182"	"2021-09-14"
"GENCC_000110-HGNC_9817-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:9817"	"RAD51"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9817"	"RAD51"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26681308[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15183"	"2021-09-14"
"GENCC_000110-HGNC_9817-Orphanet_238722-HP_0000006-GENCC_100009"	"HGNC:9817"	"RAD51"	"MONDO:0016558"	"familial congenital mirror movements"	"Orphanet:238722"	"Orphanet:238722"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9817"	"RAD51"	"Orphanet:238722"	"Familial congenital mirror movements"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22305526[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15183"	"2021-09-14"
"GENCC_000110-HGNC_9831-Orphanet_39041-HP_0000007-GENCC_100009"	"HGNC:9831"	"RAG1"	"MONDO:0011338"	"Omenn syndrome"	"Orphanet:39041"	"Orphanet:39041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9831"	"RAG1"	"Orphanet:39041"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15184"	"2021-09-14"
"GENCC_000110-HGNC_9831-Orphanet_231154-HP_0000007-GENCC_100009"	"HGNC:9831"	"RAG1"	"MONDO:0012359"	"combined immunodeficiency due to partial RAG1 deficiency"	"Orphanet:231154"	"Orphanet:231154"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9831"	"RAG1"	"Orphanet:231154"	"Combined immunodeficiency due to partial RAG1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15184"	"2021-09-14"
"GENCC_000110-HGNC_9831-Orphanet_331206-HP_0000007-GENCC_100009"	"HGNC:9831"	"RAG1"	"MONDO:0011086"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"	"Orphanet:331206"	"Orphanet:331206"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9831"	"RAG1"	"Orphanet:331206"	"Severe combined immunodeficiency due to complete RAG1/2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8810255[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15184"	"2021-09-14"
"GENCC_000110-HGNC_9832-Orphanet_39041-HP_0000007-GENCC_100009"	"HGNC:9832"	"RAG2"	"MONDO:0011338"	"Omenn syndrome"	"Orphanet:39041"	"Orphanet:39041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9832"	"RAG2"	"Orphanet:39041"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15185"	"2021-09-14"
"GENCC_000110-HGNC_9832-Orphanet_331206-HP_0000007-GENCC_100009"	"HGNC:9832"	"RAG2"	"MONDO:0011086"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"	"Orphanet:331206"	"Orphanet:331206"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9832"	"RAG2"	"Orphanet:331206"	"Severe combined immunodeficiency due to complete RAG1/2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8810255[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15185"	"2021-09-14"
"GENCC_000110-HGNC_9834-Orphanet_819-HP_0000006-GENCC_100009"	"HGNC:9834"	"RAI1"	"MONDO:0008434"	"Smith-Magenis syndrome"	"Orphanet:819"	"Orphanet:819"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9834"	"RAI1"	"Orphanet:819"	"Smith-Magenis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301487[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15186"	"2021-09-14"
"GENCC_000110-HGNC_9863-Orphanet_994-HP_0000007-GENCC_100009"	"HGNC:9863"	"RAPSN"	"MONDO:0100101"	"fetal akinesia deformation sequence 1"	"Orphanet:994"	"Orphanet:994"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9863"	"RAPSN"	"Orphanet:994"	"Fetal akinesia deformation sequence"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18179903[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15187"	"2021-09-14"
"GENCC_000110-HGNC_9863-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:9863"	"RAPSN"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9863"	"RAPSN"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15187"	"2021-09-14"
"GENCC_000110-HGNC_9871-Orphanet_90307-HP_0000006-GENCC_100009"	"HGNC:9871"	"RASA1"	"MONDO:0012017"	"Parkes Weber syndrome"	"Orphanet:90307"	"Orphanet:90307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9871"	"RASA1"	"Orphanet:90307"	"Parkes Weber syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18446851[PMID]_21348050[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15189"	"2021-09-14"
"GENCC_000110-HGNC_9871-Orphanet_137667-HP_0000006-GENCC_100009"	"HGNC:9871"	"RASA1"	"MONDO:0012016"	"capillary malformation-arteriovenous malformation syndrome"	"Orphanet:137667"	"Orphanet:137667"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9871"	"RASA1"	"Orphanet:137667"	"Capillary malformation-arteriovenous malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14639529[PMID]_21348050[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15189"	"2021-09-14"
"GENCC_000110-HGNC_9884-Orphanet_357027-HP_0000006-GENCC_100009"	"HGNC:9884"	"RB1"	"MONDO:0018160"	"hereditary retinoblastoma"	"Orphanet:357027"	"Orphanet:357027"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9884"	"RB1"	"Orphanet:357027"	"Hereditary retinoblastoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301625[PMID]_23498719[PMID]_23498780[PMID]_16934146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15191"	"2021-09-14"
"GENCC_000110-HGNC_19689-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:19689"	"RD3"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19689"	"RD3"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17186464[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15193"	"2021-09-14"
"GENCC_000110-HGNC_19977-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:19977"	"RDH12"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19977"	"RDH12"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15194"	"2021-09-14"
"GENCC_000110-HGNC_19977-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:19977"	"RDH12"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19977"	"RDH12"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15322982[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15194"	"2021-09-14"
"GENCC_000110-HGNC_9940-Orphanet_227796-HP_0000006-GENCC_100009"	"HGNC:9940"	"RDH5"	"MONDO:0007639"	"fundus albipunctatus"	"Orphanet:227796"	"Orphanet:227796"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9940"	"RDH5"	"Orphanet:227796"	"Fundus albipunctatus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22736946[PMID]_25820994[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15195"	"2021-09-14"
"GENCC_000110-HGNC_9949-Orphanet_1225-HP_0000007-GENCC_100009"	"HGNC:9949"	"RECQL4"	"MONDO:0009039"	"Baller-Gerold syndrome"	"Orphanet:1225"	"Orphanet:1225"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9949"	"RECQL4"	"Orphanet:1225"	"Baller-Gerold syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301383[PMID]_15964893[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15196"	"2021-09-14"
"GENCC_000110-HGNC_9949-Orphanet_3021-HP_0000007-GENCC_100009"	"HGNC:9949"	"RECQL4"	"MONDO:0009955"	"rapadilino syndrome"	"Orphanet:3021"	"Orphanet:3021"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9949"	"RECQL4"	"Orphanet:3021"	"RAPADILINO syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12952869[PMID]_18716613[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15196"	"2021-09-14"
"GENCC_000110-HGNC_9949-Orphanet_221016-HP_0000007-GENCC_100009"	"HGNC:9949"	"RECQL4"	"MONDO:0016369"	"Rothmund-Thomson syndrome type 2"	"Orphanet:221016"	"Orphanet:221016"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9949"	"RECQL4"	"Orphanet:221016"	"Rothmund-Thomson syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20503338[PMID]_20301415[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15196"	"2021-09-14"
"GENCC_000110-HGNC_25786-Orphanet_101011-HP_0000006-GENCC_100009"	"HGNC:25786"	"REEP1"	"MONDO:0012453"	"hereditary spastic paraplegia 31"	"Orphanet:101011"	"Orphanet:101011"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25786"	"REEP1"	"Orphanet:101011"	"Autosomal dominant spastic paraplegia type 31"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22703882[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15197"	"2021-09-14"
"GENCC_000110-HGNC_25786-Orphanet_139536-HP_0000006-GENCC_100009"	"HGNC:25786"	"REEP1"	"MONDO:0015353"	"neuronopathy, distal hereditary motor, type 5A"	"Orphanet:139536"	"Orphanet:139536"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25786"	"REEP1"	"Orphanet:139536"	"Distal hereditary motor neuropathy type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22703882[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15197"	"2021-09-14"
"GENCC_000110-HGNC_9957-Orphanet_89844-HP_0000007-GENCC_100009"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Norman-Roberts syndrome"	"Orphanet:89844"	"Orphanet:89844"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9957"	"RELN"	"Orphanet:89844"	"Lissencephaly syndrome, Norman-Roberts type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10973257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15199"	"2021-09-14"
"GENCC_000110-HGNC_9957-Orphanet_101046-HP_0000006-GENCC_100009"	"HGNC:9957"	"RELN"	"MONDO:0010898"	"autosomal dominant epilepsy with auditory features"	"Orphanet:101046"	"Orphanet:101046"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9957"	"RELN"	"Orphanet:101046"	"Autosomal dominant epilepsy with auditory features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26046367[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15199"	"2021-09-14"
"GENCC_000110-HGNC_9967-Orphanet_388-HP_0000006-GENCC_100009"	"HGNC:9967"	"RET"	"MONDO:0018309"	"Hirschsprung disease"	"Orphanet:388"	"Orphanet:388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9967"	"RET"	"Orphanet:388"	"Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31609069[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15200"	"2021-09-14"
"GENCC_000110-HGNC_9967-Orphanet_1848-HP_0000007-GENCC_100009"	"HGNC:9967"	"RET"	"MONDO:0015986"	"bilateral renal agenesis"	"Orphanet:1848"	"Orphanet:1848"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9967"	"RET"	"Orphanet:1848"	"Renal agenesis, bilateral"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18252215[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15200"	"2021-09-14"
"GENCC_000110-HGNC_9967-Orphanet_93100-HP_0000006-GENCC_100009"	"HGNC:9967"	"RET"	"MONDO:0019636"	"renal agenesis, unilateral"	"Orphanet:93100"	"Orphanet:93100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9967"	"RET"	"Orphanet:93100"	"Renal agenesis, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21900877[PMID]_24429398[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15200"	"2021-09-14"
"GENCC_000110-HGNC_9967-Orphanet_99361-HP_0000006-GENCC_100009"	"HGNC:9967"	"RET"	"MONDO:0007958"	"familial medullary thyroid carcinoma"	"Orphanet:99361"	"Orphanet:99361"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9967"	"RET"	"Orphanet:99361"	"Familial medullary thyroid carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10443680[PMID]_20833330[PMID]_20301434[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15200"	"2021-09-14"
"GENCC_000110-HGNC_9967-Orphanet_99803-HP_0000006-GENCC_100009"	"HGNC:9967"	"RET"	"MONDO:0020493"	"Haddad syndrome"	"Orphanet:99803"	"Orphanet:99803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9967"	"RET"	"Orphanet:99803"	"Haddad syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9565426[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15200"	"2021-09-14"
"GENCC_000110-HGNC_9967-Orphanet_247698-HP_0000006-GENCC_100009"	"HGNC:9967"	"RET"	"MONDO:0008234"	"multiple endocrine neoplasia type 2A"	"Orphanet:247698"	"Orphanet:247698"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9967"	"RET"	"Orphanet:247698"	"Multiple endocrine neoplasia type 2A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20833330[PMID]_20301434[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15200"	"2021-09-14"
"GENCC_000110-HGNC_9967-Orphanet_247709-HP_0000006-GENCC_100009"	"HGNC:9967"	"RET"	"MONDO:0008082"	"multiple endocrine neoplasia type 2B"	"Orphanet:247709"	"Orphanet:247709"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9967"	"RET"	"Orphanet:247709"	"Multiple endocrine neoplasia type 2B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20833330[PMID]_20301434[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15200"	"2021-09-14"
"GENCC_000110-HGNC_9986-Orphanet_572-HP_0000007-GENCC_100009"	"HGNC:9986"	"RFX5"	"MONDO:0008855"	"MHC class II deficiency"	"Orphanet:572"	"Orphanet:572"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9986"	"RFX5"	"Orphanet:572"	"Immunodeficiency by defective expression of MHC class II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15202"	"2021-09-14"
"GENCC_000110-HGNC_9987-Orphanet_572-HP_0000007-GENCC_100009"	"HGNC:9987"	"RFXANK"	"MONDO:0008855"	"MHC class II deficiency"	"Orphanet:572"	"Orphanet:572"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9987"	"RFXANK"	"Orphanet:572"	"Immunodeficiency by defective expression of MHC class II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15203"	"2021-09-14"
"GENCC_000110-HGNC_9988-Orphanet_572-HP_0000007-GENCC_100009"	"HGNC:9988"	"RFXAP"	"MONDO:0008855"	"MHC class II deficiency"	"Orphanet:572"	"Orphanet:572"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9988"	"RFXAP"	"Orphanet:572"	"Immunodeficiency by defective expression of MHC class II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15204"	"2021-09-14"
"GENCC_000110-HGNC_9990-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:9990"	"RGR"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9990"	"RGR"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15205"	"2021-09-14"
"GENCC_000110-HGNC_10004-Orphanet_75374-HP_0000007-GENCC_100009"	"HGNC:10004"	"RGS9"	"MONDO:0012033"	"bradyopsia"	"Orphanet:75374"	"Orphanet:75374"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10004"	"RGS9"	"Orphanet:75374"	"Bradyopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14702087[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15207"	"2021-09-14"
"GENCC_000110-HGNC_30304-Orphanet_75374-HP_0000007-GENCC_100009"	"HGNC:30304"	"RGS9BP"	"MONDO:0012033"	"bradyopsia"	"Orphanet:75374"	"Orphanet:75374"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30304"	"RGS9BP"	"Orphanet:75374"	"Bradyopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14702087[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15208"	"2021-09-14"
"GENCC_000110-HGNC_10006-Orphanet_3203-HP_0000006-GENCC_100009"	"HGNC:10006"	"RHAG"	"MONDO:0008493"	"overhydrated hereditary stomatocytosis"	"Orphanet:3203"	"Orphanet:3203"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10006"	"RHAG"	"Orphanet:3203"	"Overhydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15209"	"2021-09-14"
"GENCC_000110-HGNC_10006-Orphanet_71275-HP_0000007-GENCC_100009"	"HGNC:10006"	"RHAG"	"MONDO:0019107"	"Rh deficiency syndrome"	"Orphanet:71275"	"Orphanet:71275"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10006"	"RHAG"	"Orphanet:71275"	"Rh deficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8563755[PMID]_9716608[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15209"	"2021-09-14"
"GENCC_000110-HGNC_10008-Orphanet_71275-HP_0000007-GENCC_100009"	"HGNC:10008"	"RHCE"	"MONDO:0019107"	"Rh deficiency syndrome"	"Orphanet:71275"	"Orphanet:71275"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10008"	"RHCE"	"Orphanet:71275"	"Rh deficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9657766[PMID]_9657769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15210"	"2021-09-14"
"GENCC_000110-HGNC_10012-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10012"	"RHO"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10012"	"RHO"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15211"	"2021-09-14"
"GENCC_000110-HGNC_10012-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:10012"	"RHO"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10012"	"RHO"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9888392[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15211"	"2021-09-14"
"GENCC_000110-HGNC_17282-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:17282"	"RIMS1"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17282"	"RIMS1"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12659814[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15212"	"2021-09-14"
"GENCC_000110-HGNC_10024-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10024"	"RLBP1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10024"	"RLBP1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15213"	"2021-09-14"
"GENCC_000110-HGNC_10024-Orphanet_52427-HP_0000006-GENCC_100009"	"HGNC:10024"	"RLBP1"	"MONDO:0018877"	"retinitis punctata albescens"	"Orphanet:52427"	"Orphanet:52427"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10024"	"RLBP1"	"Orphanet:52427"	"Retinitis punctata albescens"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10102299[PMID]_15234312[PMID]_15953459[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15213"	"2021-09-14"
"GENCC_000110-HGNC_10024-Orphanet_85128-HP_0000007-GENCC_100009"	"HGNC:10024"	"RLBP1"	"MONDO:0011838"	"Bothnia retinal dystrophy"	"Orphanet:85128"	"Orphanet:85128"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10024"	"RLBP1"	"Orphanet:85128"	"Bothnia retinal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10102298[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15213"	"2021-09-14"
"GENCC_000110-HGNC_10024-Orphanet_227796-HP_0000006-GENCC_100009"	"HGNC:10024"	"RLBP1"	"MONDO:0007639"	"fundus albipunctatus"	"Orphanet:227796"	"Orphanet:227796"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10024"	"RLBP1"	"Orphanet:227796"	"Fundus albipunctatus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21447491[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15213"	"2021-09-14"
"GENCC_000110-HGNC_18518-Orphanet_51-HP_0000006-GENCC_100009"	"HGNC:18518"	"RNASEH2A"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"Orphanet:51"	"Orphanet:51"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18518"	"RNASEH2A"	"Orphanet:51"	"Aicardi-GoutiÞres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301648[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15214"	"2021-09-14"
"GENCC_000110-HGNC_25671-Orphanet_51-HP_0000006-GENCC_100009"	"HGNC:25671"	"RNASEH2B"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"Orphanet:51"	"Orphanet:51"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25671"	"RNASEH2B"	"Orphanet:51"	"Aicardi-GoutiÞres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301648[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15215"	"2021-09-14"
"GENCC_000110-HGNC_24116-Orphanet_51-HP_0000006-GENCC_100009"	"HGNC:24116"	"RNASEH2C"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"Orphanet:51"	"Orphanet:51"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24116"	"RNASEH2C"	"Orphanet:51"	"Aicardi-GoutiÞres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301648[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15216"	"2021-09-14"
"GENCC_000110-HGNC_10254-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10254"	"ROM1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10254"	"ROM1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15220"	"2021-09-14"
"GENCC_000110-HGNC_10257-Orphanet_1507-HP_0000007-GENCC_100009"	"HGNC:10257"	"ROR2"	"MONDO:0009999"	"autosomal recessive Robinow syndrome"	"Orphanet:1507"	"Orphanet:1507"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10257"	"ROR2"	"Orphanet:1507"	"Autosomal recessive Robinow syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301418[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15221"	"2021-09-14"
"GENCC_000110-HGNC_10263-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10263"	"RP1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10263"	"RP1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15222"	"2021-09-14"
"GENCC_000110-HGNC_10274-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10274"	"RP2"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10274"	"RP2"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15223"	"2021-09-14"
"GENCC_000110-HGNC_10288-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10288"	"RP9"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10288"	"RP9"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15224"	"2021-09-14"
"GENCC_000110-HGNC_10294-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10294"	"RPE65"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10294"	"RPE65"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15225"	"2021-09-14"
"GENCC_000110-HGNC_10294-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:10294"	"RPE65"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10294"	"RPE65"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25495949[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15225"	"2021-09-14"
"GENCC_000110-HGNC_10294-Orphanet_364055-HP_0000007-GENCC_100009"	"HGNC:10294"	"RPE65"	"MONDO:0009549"	"severe early-childhood-onset retinal dystrophy"	"Orphanet:364055"	"Orphanet:364055"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10294"	"RPE65"	"Orphanet:364055"	"Severe early-childhood-onset retinal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15225"	"2021-09-14"
"GENCC_000110-HGNC_10295-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10295"	"RPGR"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10295"	"RPGR"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15226"	"2021-09-14"
"GENCC_000110-HGNC_10295-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:10295"	"RPGR"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10295"	"RPGR"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15226"	"2021-09-14"
"GENCC_000110-HGNC_10295-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:10295"	"RPGR"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10295"	"RPGR"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11857109[PMID]_23776498[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15226"	"2021-09-14"
"GENCC_000110-HGNC_10295-Orphanet_247522-HP_0001417-GENCC_100009"	"HGNC:10295"	"RPGR"	"MONDO:0010330"	"primary ciliary dyskinesia-retinitis pigmentosa syndrome"	"Orphanet:247522"	"Orphanet:247522"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:10295"	"RPGR"	"Orphanet:247522"	"Primary ciliary dyskinesia-retinitis pigmentosa syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12920075[PMID]_16055928[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15226"	"2021-09-14"
"GENCC_000110-HGNC_13436-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:13436"	"RPGRIP1"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13436"	"RPGRIP1"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12920076[PMID]_26992781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15227"	"2021-09-14"
"GENCC_000110-HGNC_13436-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:13436"	"RPGRIP1"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13436"	"RPGRIP1"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11528500[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15227"	"2021-09-14"
"GENCC_000110-HGNC_10298-Orphanet_435938-HP_0001417-GENCC_100009"	"HGNC:10298"	"RPL10"	"MONDO:0018569"	"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"	"Orphanet:435938"	"Orphanet:435938"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:10298"	"RPL10"	"Orphanet:435938"	"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25316788[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15228"	"2021-09-14"
"GENCC_000110-HGNC_10298-Orphanet_459070-HP_0001417-GENCC_100009"	"HGNC:10298"	"RPL10"	"MONDO:0018724"	"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"	"Orphanet:459070"	"Orphanet:459070"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:10298"	"RPL10"	"Orphanet:459070"	"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26290468[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15228"	"2021-09-14"
"GENCC_000110-HGNC_10402-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10402"	"RPS19"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10402"	"RPS19"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15229"	"2021-09-14"
"GENCC_000110-HGNC_10411-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10411"	"RPS24"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10411"	"RPS24"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15230"	"2021-09-14"
"GENCC_000110-HGNC_10432-Orphanet_192-HP_0001417-GENCC_100009"	"HGNC:10432"	"RPS6KA3"	"MONDO:0010561"	"Coffin-Lowry syndrome"	"Orphanet:192"	"Orphanet:192"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:10432"	"RPS6KA3"	"Orphanet:192"	"Coffin-Lowry syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15231"	"2021-09-14"
"GENCC_000110-HGNC_10432-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:10432"	"RPS6KA3"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:10432"	"RPS6KA3"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17100996[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15231"	"2021-09-14"
"GENCC_000110-HGNC_10432-Orphanet_276630-HP_0000006-GENCC_100009"	"HGNC:10432"	"RPS6KA3"	"MONDO:0017193"	"symptomatic form of Coffin-Lowry syndrome in female carriers"	"Orphanet:276630"	"Orphanet:276630"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10432"	"RPS6KA3"	"Orphanet:276630"	"Symptomatic form of Coffin-Lowry syndrome in female carriers"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15231"	"2021-09-14"
"GENCC_000110-HGNC_10457-Orphanet_792-HP_0001417-GENCC_100009"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked retinoschisis"	"Orphanet:792"	"Orphanet:792"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:10457"	"RS1"	"Orphanet:792"	"X-linked retinoschisis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15232"	"2021-09-14"
"GENCC_000110-HGNC_21679-Orphanet_85112-HP_0000007-GENCC_100009"	"HGNC:21679"	"RSPO1"	"MONDO:0012530"	"palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"	"Orphanet:85112"	"Orphanet:85112"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21679"	"RSPO1"	"Orphanet:85112"	"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17041600[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15233"	"2021-09-14"
"GENCC_000110-HGNC_16175-Orphanet_94150-HP_0000007-GENCC_100009"	"HGNC:16175"	"RSPO4"	"MONDO:0008798"	"nonsyndromic congenital nail disorder 4"	"Orphanet:94150"	"Orphanet:94150"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16175"	"RSPO4"	"Orphanet:94150"	"Anonychia congenita totalis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17914448[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15234"	"2021-09-14"
"GENCC_000110-HGNC_10471-Orphanet_71290-HP_0000006-GENCC_100009"	"HGNC:10471"	"RUNX1"	"MONDO:0011071"	"hereditary thrombocytopenia and hematologic cancer predisposition syndrome"	"Orphanet:71290"	"Orphanet:71290"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10471"	"RUNX1"	"Orphanet:71290"	"Familial platelet disorder with associated myeloid malignancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30600763[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15235"	"2021-09-14"
"GENCC_000110-HGNC_10472-Orphanet_1452-HP_0000006-GENCC_100009"	"HGNC:10472"	"RUNX2"	"MONDO:0007340"	"cleidocranial dysplasia 1"	"Orphanet:1452"	"Orphanet:1452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10472"	"RUNX2"	"Orphanet:1452"	"Cleidocranial dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15236"	"2021-09-14"
"GENCC_000110-HGNC_10472-Orphanet_2504-HP_0000006-GENCC_100009"	"HGNC:10472"	"RUNX2"	"MONDO:0007984"	"metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"	"Orphanet:2504"	"Orphanet:2504"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10472"	"RUNX2"	"Orphanet:2504"	"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23290074[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15236"	"2021-09-14"
"GENCC_000110-HGNC_10483-Orphanet_597-HP_0000006-GENCC_100009"	"HGNC:10483"	"RYR1"	"MONDO:0007294"	"central core myopathy"	"Orphanet:597"	"Orphanet:597"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10483"	"RYR1"	"Orphanet:597"	"Central core disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301565[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15237"	"2021-09-14"
"GENCC_000110-HGNC_10483-Orphanet_423-HP_0000006-GENCC_100009"	"HGNC:10483"	"RYR1"	"MONDO:0018493"	"malignant hyperthermia of anesthesia"	"Orphanet:423"	"Orphanet:423"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10483"	"RYR1"	"Orphanet:423"	"Malignant hyperthermia of anesthesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301325[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15237"	"2021-09-14"
"GENCC_000110-HGNC_10483-Orphanet_33108-HP_0000007-GENCC_100009"	"HGNC:10483"	"RYR1"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"Orphanet:33108"	"Orphanet:33108"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10483"	"RYR1"	"Orphanet:33108"	"Lethal multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26932181[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15237"	"2021-09-14"
"GENCC_000110-HGNC_10483-Orphanet_99741-HP_0000006-GENCC_100009"	"HGNC:10483"	"RYR1"	"MONDO:0020485"	"King-Denborough syndrome"	"Orphanet:99741"	"Orphanet:99741"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10483"	"RYR1"	"Orphanet:99741"	"King-Denborough syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21514828[PMID]_18765655[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15237"	"2021-09-14"
"GENCC_000110-HGNC_10483-Orphanet_169186-HP_0000007-GENCC_100009"	"HGNC:10483"	"RYR1"	"MONDO:0015705"	"autosomal recessive centronuclear myopathy"	"Orphanet:169186"	"Orphanet:169186"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10483"	"RYR1"	"Orphanet:169186"	"Autosomal recessive centronuclear myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20839240[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15237"	"2021-09-14"
"GENCC_000110-HGNC_10483-Orphanet_324581-HP_0000007-GENCC_100009"	"HGNC:10483"	"RYR1"	"MONDO:0017936"	"benign Samaritan congenital myopathy"	"Orphanet:324581"	"Orphanet:324581"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10483"	"RYR1"	"Orphanet:324581"	"Benign Samaritan congenital myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22752422[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15237"	"2021-09-14"
"GENCC_000110-HGNC_10483-Orphanet_424107-HP_0000007-GENCC_100009"	"HGNC:10483"	"RYR1"	"MONDO:0018528"	"congenital myopathy with myasthenic-like onset"	"Orphanet:424107"	"Orphanet:424107"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10483"	"RYR1"	"Orphanet:424107"	"Congenital myopathy with myasthenic-like onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24951453[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15237"	"2021-09-14"
"GENCC_000110-HGNC_10484-Orphanet_3286-HP_0000006-GENCC_100009"	"HGNC:10484"	"RYR2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"Orphanet:3286"	"Orphanet:3286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10484"	"RYR2"	"Orphanet:3286"	"Catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301466[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15238"	"2021-09-14"
"GENCC_000110-HGNC_10519-Orphanet_98-HP_0000007-GENCC_100009"	"HGNC:10519"	"SACS"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"Orphanet:98"	"Orphanet:98"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10519"	"SACS"	"Orphanet:98"	"Autosomal recessive spastic ataxia of Charlevoix-Saguenay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301432[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15239"	"2021-09-14"
"GENCC_000110-HGNC_10521-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10521"	"SAG"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10521"	"SAG"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15240"	"2021-09-14"
"GENCC_000110-HGNC_10521-Orphanet_75382-HP_0000007-GENCC_100009"	"HGNC:10521"	"SAG"	"MONDO:0019152"	"Oguchi disease"	"Orphanet:75382"	"Orphanet:75382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10521"	"SAG"	"Orphanet:75382"	"Oguchi disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15295660[PMID]_22419846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15240"	"2021-09-14"
"GENCC_000110-HGNC_10524-Orphanet_857-HP_0000006-GENCC_100009"	"HGNC:10524"	"SALL1"	"MONDO:0007142"	"Townes-Brocks syndrome"	"Orphanet:857"	"Orphanet:857"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10524"	"SALL1"	"Orphanet:857"	"Townes-Brocks syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301618[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15241"	"2021-09-14"
"GENCC_000110-HGNC_15924-Orphanet_233-HP_0000006-GENCC_100009"	"HGNC:15924"	"SALL4"	"MONDO:0007473"	"Duane retraction syndrome"	"Orphanet:233"	"Orphanet:233"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15924"	"SALL4"	"Orphanet:233"	"Duane retraction syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23687435[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15242"	"2021-09-14"
"GENCC_000110-HGNC_15924-Orphanet_2307-HP_0000006-GENCC_100009"	"HGNC:15924"	"SALL4"	"MONDO:0007836"	"IVIC syndrome"	"Orphanet:2307"	"Orphanet:2307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15924"	"SALL4"	"Orphanet:2307"	"IVIC syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17256792[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15242"	"2021-09-14"
"GENCC_000110-HGNC_1348-Orphanet_306658-HP_0000007-GENCC_100009"	"HGNC:1348"	"SAMD9"	"MONDO:0012502"	"normophosphatemic familial tumoral calcinosis"	"Orphanet:306658"	"Orphanet:306658"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1348"	"SAMD9"	"Orphanet:306658"	"Familial normophosphatemic tumoral calcinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16960814[PMID]_18094730[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15243"	"2021-09-14"
"GENCC_000110-HGNC_1348-Orphanet_494433-HP_0000006-GENCC_100009"	"HGNC:1348"	"SAMD9"	"MONDO:0014888"	"MIRAGE syndrome"	"Orphanet:494433"	"Orphanet:494433"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1348"	"SAMD9"	"Orphanet:494433"	"MIRAGE syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27182967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15243"	"2021-09-14"
"GENCC_000110-HGNC_10535-Orphanet_71-HP_0000007-GENCC_100009"	"HGNC:10535"	"SAR1B"	"MONDO:0009528"	"chylomicron retention disease"	"Orphanet:71"	"Orphanet:71"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10535"	"SAR1B"	"Orphanet:71"	"Chylomicron retention disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21235735[PMID]_18786134[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15244"	"2021-09-14"
"GENCC_000110-HGNC_10536-Orphanet_3129-HP_0000007-GENCC_100009"	"HGNC:10536"	"SARDH"	"MONDO:0010008"	"sarcosinemia"	"Orphanet:3129"	"Orphanet:3129"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10536"	"SARDH"	"Orphanet:3129"	"Sarcosinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22825317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15245"	"2021-09-14"
"GENCC_000110-HGNC_19440-Orphanet_811-HP_0000007-GENCC_100009"	"HGNC:19440"	"SBDS"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"Orphanet:811"	"Orphanet:811"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19440"	"SBDS"	"Orphanet:811"	"Shwachman-Diamond syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301722[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15247"	"2021-09-14"
"GENCC_000110-HGNC_2135-Orphanet_99956-HP_0000007-GENCC_100009"	"HGNC:2135"	"SBF2"	"MONDO:0011475"	"Charcot-Marie-Tooth disease type 4B2"	"Orphanet:99956"	"Orphanet:99956"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2135"	"SBF2"	"Orphanet:99956"	"Charcot-Marie-Tooth disease type 4B2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15248"	"2021-09-14"
"GENCC_000110-HGNC_10547-Orphanet_46059-HP_0000007-GENCC_100009"	"HGNC:10547"	"SC5D"	"MONDO:0011816"	"lathosterolosis"	"Orphanet:46059"	"Orphanet:46059"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10547"	"SC5D"	"Orphanet:46059"	"Lathosterolosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12812989[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15249"	"2021-09-14"
"GENCC_000110-HGNC_10585-Orphanet_2382-HP_0000006-GENCC_100009"	"HGNC:10585"	"SCN1A"	"MONDO:0016532"	"Lennox-Gastaut syndrome"	"Orphanet:2382"	"Orphanet:2382"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10585"	"SCN1A"	"Orphanet:2382"	"Lennox-Gastaut syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17347258[PMID]_20301494[PMID]_19782004[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15250"	"2021-09-14"
"GENCC_000110-HGNC_10585-Orphanet_1942-HP_0000005-GENCC_100009"	"HGNC:10585"	"SCN1A"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"Orphanet:1942"	"Orphanet:1942"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:10585"	"SCN1A"	"Orphanet:1942"	"Myoclonic-astatic epilepsy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21396429[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15250"	"2021-09-14"
"GENCC_000110-HGNC_10585-Orphanet_569-HP_0000006-GENCC_100009"	"HGNC:10585"	"SCN1A"	"MONDO:0018925"	"familial or sporadic hemiplegic migraine"	"Orphanet:569"	"Orphanet:569"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10585"	"SCN1A"	"Orphanet:569"	"Familial or sporadic hemiplegic migraine"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301562[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15250"	"2021-09-14"
"GENCC_000110-HGNC_10585-Orphanet_33069-HP_0000006-GENCC_100009"	"HGNC:10585"	"SCN1A"	"MONDO:0011794"	"Dravet syndrome"	"Orphanet:33069"	"Orphanet:33069"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10585"	"SCN1A"	"Orphanet:33069"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301494[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]_11359211[PMID]_12754708[PMID]_16458823[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15250"	"2021-09-14"
"GENCC_000110-HGNC_10585-Orphanet_36387-HP_0000006-GENCC_100009"	"HGNC:10585"	"SCN1A"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"Orphanet:36387"	"Orphanet:36387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10585"	"SCN1A"	"Orphanet:36387"	"Generalized epilepsy with febrile seizures-plus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301494[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15250"	"2021-09-14"
"GENCC_000110-HGNC_10585-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:10585"	"SCN1A"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10585"	"SCN1A"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21555645[PMID]_20301494[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15250"	"2021-09-14"
"GENCC_000110-HGNC_10586-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:10586"	"SCN1B"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10586"	"SCN1B"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28218389[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15251"	"2021-09-14"
"GENCC_000110-HGNC_10586-Orphanet_871-HP_0000006-GENCC_100009"	"HGNC:10586"	"SCN1B"	"MONDO:0019490"	"progressive familial heart block"	"Orphanet:871"	"Orphanet:871"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10586"	"SCN1B"	"Orphanet:871"	"Familial progressive cardiac conduction defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18464934[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15251"	"2021-09-14"
"GENCC_000110-HGNC_10586-Orphanet_33069-HP_0000006-GENCC_100009"	"HGNC:10586"	"SCN1B"	"MONDO:0011794"	"Dravet syndrome"	"Orphanet:33069"	"Orphanet:33069"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10586"	"SCN1B"	"Orphanet:33069"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19710327[PMID]_23148524[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15251"	"2021-09-14"
"GENCC_000110-HGNC_10586-Orphanet_36387-HP_0000006-GENCC_100009"	"HGNC:10586"	"SCN1B"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"Orphanet:36387"	"Orphanet:36387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10586"	"SCN1B"	"Orphanet:36387"	"Generalized epilepsy with febrile seizures-plus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15251"	"2021-09-14"
"GENCC_000110-HGNC_10588-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:10588"	"SCN2A"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10588"	"SCN2A"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23550958[PMID]_23935176[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15252"	"2021-09-14"
"GENCC_000110-HGNC_10588-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:10588"	"SCN2A"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10588"	"SCN2A"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23935176[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15252"	"2021-09-14"
"GENCC_000110-HGNC_10588-Orphanet_306-HP_0000006-GENCC_100009"	"HGNC:10588"	"SCN2A"	"MONDO:0017615"	"benign familial infantile epilepsy"	"Orphanet:306"	"Orphanet:306"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10588"	"SCN2A"	"Orphanet:306"	"Benign familial infantile epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23360469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15252"	"2021-09-14"
"GENCC_000110-HGNC_10588-Orphanet_33069-HP_0000006-GENCC_100009"	"HGNC:10588"	"SCN2A"	"MONDO:0011794"	"Dravet syndrome"	"Orphanet:33069"	"Orphanet:33069"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10588"	"SCN2A"	"Orphanet:33069"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19783390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15252"	"2021-09-14"
"GENCC_000110-HGNC_10588-Orphanet_140927-HP_0000006-GENCC_100009"	"HGNC:10588"	"SCN2A"	"MONDO:0011140"	"benign familial neonatal-infantile seizures"	"Orphanet:140927"	"Orphanet:140927"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10588"	"SCN2A"	"Orphanet:140927"	"Benign familial neonatal-infantile seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12243921[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15252"	"2021-09-14"
"GENCC_000110-HGNC_10588-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:10588"	"SCN2A"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10588"	"SCN2A"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31618474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15252"	"2021-09-14"
"GENCC_000110-HGNC_10591-Orphanet_684-HP_0000006-GENCC_100009"	"HGNC:10591"	"SCN4A"	"MONDO:0008195"	"paramyotonia congenita of Von Eulenburg"	"Orphanet:684"	"Orphanet:684"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10591"	"SCN4A"	"Orphanet:684"	"Paramyotonia congenita of Von Eulenburg"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10369308[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15253"	"2021-09-14"
"GENCC_000110-HGNC_10591-Orphanet_681-HP_0000006-GENCC_100009"	"HGNC:10591"	"SCN4A"	"MONDO:0008223"	"hypokalemic periodic paralysis"	"Orphanet:681"	"Orphanet:681"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10591"	"SCN4A"	"Orphanet:681"	"Hypokalemic periodic paralysis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301512[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15253"	"2021-09-14"
"GENCC_000110-HGNC_10591-Orphanet_682-HP_0000006-GENCC_100009"	"HGNC:10591"	"SCN4A"	"MONDO:0008224"	"hyperkalemic periodic paralysis"	"Orphanet:682"	"Orphanet:682"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10591"	"SCN4A"	"Orphanet:682"	"Hyperkalemic periodic paralysis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301669[PMID]_17395131[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15253"	"2021-09-14"
"GENCC_000110-HGNC_10591-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:10591"	"SCN4A"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10591"	"SCN4A"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15253"	"2021-09-14"
"GENCC_000110-HGNC_10591-Orphanet_99734-HP_0000006-GENCC_100009"	"HGNC:10591"	"SCN4A"	"MONDO:0020481"	"myotonia fluctuans"	"Orphanet:99734"	"Orphanet:99734"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10591"	"SCN4A"	"Orphanet:99734"	"Myotonia fluctuans"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7980103[PMID]_8308722[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15253"	"2021-09-14"
"GENCC_000110-HGNC_10591-Orphanet_99735-HP_0000006-GENCC_100009"	"HGNC:10591"	"SCN4A"	"MONDO:0020482"	"myotonia permanens"	"Orphanet:99735"	"Orphanet:99735"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10591"	"SCN4A"	"Orphanet:99735"	"Myotonia permanens"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8308722[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15253"	"2021-09-14"
"GENCC_000110-HGNC_10591-Orphanet_99736-HP_0000006-GENCC_100009"	"HGNC:10591"	"SCN4A"	"MONDO:0020483"	"acetazolamide-responsive myotonia"	"Orphanet:99736"	"Orphanet:99736"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10591"	"SCN4A"	"Orphanet:99736"	"Acetazolamide-responsive myotonia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8058156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15253"	"2021-09-14"
"GENCC_000110-HGNC_10593-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:10593"	"SCN5A"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10593"	"SCN5A"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15466643[PMID]_22766342[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15254"	"2021-09-14"
"GENCC_000110-HGNC_10593-Orphanet_871-HP_0000006-GENCC_100009"	"HGNC:10593"	"SCN5A"	"MONDO:0019490"	"progressive familial heart block"	"Orphanet:871"	"Orphanet:871"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10593"	"SCN5A"	"Orphanet:871"	"Familial progressive cardiac conduction defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12598077[PMID]_19251209[PMID]_22717692[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15254"	"2021-09-14"
"GENCC_000110-HGNC_10593-Orphanet_1344-HP_0000006-GENCC_100009"	"HGNC:10593"	"SCN5A"	"MONDO:0015281"	"atrial standstill"	"Orphanet:1344"	"Orphanet:1344"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10593"	"SCN5A"	"Orphanet:1344"	"Atrial standstill"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12522116[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15254"	"2021-09-14"
"GENCC_000110-HGNC_10593-Orphanet_130-HP_0000006-GENCC_100009"	"HGNC:10593"	"SCN5A"	"MONDO:0015263"	"Brugada syndrome"	"Orphanet:130"	"Orphanet:130"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10593"	"SCN5A"	"Orphanet:130"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301690[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15254"	"2021-09-14"
"GENCC_000110-HGNC_10593-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:10593"	"SCN5A"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10593"	"SCN5A"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18929244[PMID]_18378609[PMID]_24582607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15254"	"2021-09-14"
"GENCC_000110-HGNC_10593-Orphanet_166282-HP_0000006-GENCC_100009"	"HGNC:10593"	"SCN5A"	"MONDO:0012061"	"familial sick sinus syndrome"	"Orphanet:166282"	"Orphanet:166282"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10593"	"SCN5A"	"Orphanet:166282"	"Familial sick sinus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15254"	"2021-09-14"
"GENCC_000110-HGNC_10593-Orphanet_228140-HP_0000006-GENCC_100009"	"HGNC:10593"	"SCN5A"	"MONDO:0100234"	"paroxysmal familial ventricular fibrillation"	"Orphanet:228140"	"Orphanet:228140"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10593"	"SCN5A"	"Orphanet:228140"	"Idiopathic ventricular fibrillation, non Brugada type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10940383[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15254"	"2021-09-14"
"GENCC_000110-HGNC_10597-Orphanet_970-HP_0000007-GENCC_100009"	"HGNC:10597"	"SCN9A"	"MONDO:0019941"	"hereditary sensory and autonomic neuropathy type 2"	"Orphanet:970"	"Orphanet:970"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10597"	"SCN9A"	"Orphanet:970"	"Hereditary sensory and autonomic neuropathy type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23596073[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15255"	"2021-09-14"
"GENCC_000110-HGNC_10597-Orphanet_46348-HP_0000006-GENCC_100009"	"HGNC:10597"	"SCN9A"	"MONDO:0008179"	"paroxysmal extreme pain disorder"	"Orphanet:46348"	"Orphanet:46348"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10597"	"SCN9A"	"Orphanet:46348"	"Paroxysmal extreme pain disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17145499[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15255"	"2021-09-14"
"GENCC_000110-HGNC_10597-Orphanet_88642-HP_0000006-GENCC_100009"	"HGNC:10597"	"SCN9A"	"MONDO:0009459"	"channelopathy-associated congenital insensitivity to pain, autosomal recessive"	"Orphanet:88642"	"Orphanet:88642"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10597"	"SCN9A"	"Orphanet:88642"	"Channelopathy-associated congenital insensitivity to pain"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20529343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15255"	"2021-09-14"
"GENCC_000110-HGNC_10597-Orphanet_90026-HP_0000006-GENCC_100009"	"HGNC:10597"	"SCN9A"	"MONDO:0007571"	"primary erythermalgia"	"Orphanet:90026"	"Orphanet:90026"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10597"	"SCN9A"	"Orphanet:90026"	"Primary erythromelalgia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15958509[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15255"	"2021-09-14"
"GENCC_000110-HGNC_10597-Orphanet_306577-HP_0000006-GENCC_100009"	"HGNC:10597"	"SCN9A"	"MONDO:0017629"	"sodium channelopathy-related small fiber neuropathy"	"Orphanet:306577"	"Orphanet:306577"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10597"	"SCN9A"	"Orphanet:306577"	"Sodium channelopathy-related small fiber neuropathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21698661[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15255"	"2021-09-14"
"GENCC_000110-HGNC_10599-Orphanet_526-HP_0000006-GENCC_100009"	"HGNC:10599"	"SCNN1A"	"MONDO:0008323"	"Liddle syndrome"	"Orphanet:526"	"Orphanet:526"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10599"	"SCNN1A"	"Orphanet:526"	"Liddle syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28710092[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15256"	"2021-09-14"
"GENCC_000110-HGNC_10599-Orphanet_130-HP_0000006-GENCC_100009"	"HGNC:10599"	"SCNN1A"	"MONDO:0015263"	"Brugada syndrome"	"Orphanet:130"	"Orphanet:130"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10599"	"SCNN1A"	"Orphanet:130"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30821013[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15256"	"2021-09-14"
"GENCC_000110-HGNC_10599-Orphanet_171876-HP_0000007-GENCC_100009"	"HGNC:10599"	"SCNN1A"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"Orphanet:171876"	"Orphanet:171876"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10599"	"SCNN1A"	"Orphanet:171876"	"Generalized pseudohypoaldosteronism type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19571553[PMID]_23416952[PMID]_23762408[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15256"	"2021-09-14"
"GENCC_000110-HGNC_10600-Orphanet_526-HP_0000006-GENCC_100009"	"HGNC:10600"	"SCNN1B"	"MONDO:0008323"	"Liddle syndrome"	"Orphanet:526"	"Orphanet:526"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10600"	"SCNN1B"	"Orphanet:526"	"Liddle syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15257"	"2021-09-14"
"GENCC_000110-HGNC_10600-Orphanet_171876-HP_0000007-GENCC_100009"	"HGNC:10600"	"SCNN1B"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"Orphanet:171876"	"Orphanet:171876"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10600"	"SCNN1B"	"Orphanet:171876"	"Generalized pseudohypoaldosteronism type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19571553[PMID]_23426840[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15257"	"2021-09-14"
"GENCC_000110-HGNC_10602-Orphanet_526-HP_0000006-GENCC_100009"	"HGNC:10602"	"SCNN1G"	"MONDO:0008323"	"Liddle syndrome"	"Orphanet:526"	"Orphanet:526"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10602"	"SCNN1G"	"Orphanet:526"	"Liddle syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15258"	"2021-09-14"
"GENCC_000110-HGNC_10602-Orphanet_171876-HP_0000007-GENCC_100009"	"HGNC:10602"	"SCNN1G"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"Orphanet:171876"	"Orphanet:171876"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10602"	"SCNN1G"	"Orphanet:171876"	"Generalized pseudohypoaldosteronism type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11231969[PMID]_19571553[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15258"	"2021-09-14"
"GENCC_000110-HGNC_10604-Orphanet_521411-HP_0000007-GENCC_100009"	"HGNC:10604"	"SCO2"	"MONDO:0033850"	"autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect"	"Orphanet:521411"	"Orphanet:521411"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10604"	"SCO2"	"Orphanet:521411"	"Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29351582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15260"	"2021-09-14"
"GENCC_000110-HGNC_10680-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:10680"	"SDHA"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10680"	"SDHA"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20551992[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15261"	"2021-09-14"
"GENCC_000110-HGNC_10680-Orphanet_3208-HP_0000007-GENCC_100009"	"HGNC:10680"	"SDHA"	"MONDO:0009641"	"mitochondrial complex II deficiency"	"Orphanet:3208"	"Orphanet:3208"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10680"	"SDHA"	"Orphanet:3208"	"Isolated succinate-CoQ reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22972948[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15261"	"2021-09-14"
"GENCC_000110-HGNC_10680-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:10680"	"SDHA"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10680"	"SDHA"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301715[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15261"	"2021-09-14"
"GENCC_000110-HGNC_10680-Orphanet_44890-HP_0000006-GENCC_100009"	"HGNC:10680"	"SDHA"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"Orphanet:44890"	"Orphanet:44890"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10680"	"SDHA"	"Orphanet:44890"	"Gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23730622[PMID]_23282968[PMID]_21505157[PMID]_21997697[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15261"	"2021-09-14"
"GENCC_000110-HGNC_10680-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:10680"	"SDHA"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10680"	"SDHA"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16361598[PMID]_24781757[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15261"	"2021-09-14"
"GENCC_000110-HGNC_10681-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:10681"	"SDHB"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10681"	"SDHB"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15262"	"2021-09-14"
"GENCC_000110-HGNC_10681-Orphanet_3208-HP_0000007-GENCC_100009"	"HGNC:10681"	"SDHB"	"MONDO:0009641"	"mitochondrial complex II deficiency"	"Orphanet:3208"	"Orphanet:3208"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10681"	"SDHB"	"Orphanet:3208"	"Isolated succinate-CoQ reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22972948[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15262"	"2021-09-14"
"GENCC_000110-HGNC_10681-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:10681"	"SDHB"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10681"	"SDHB"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301715[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15262"	"2021-09-14"
"GENCC_000110-HGNC_10681-Orphanet_97286-HP_0000006-GENCC_100009"	"HGNC:10681"	"SDHB"	"MONDO:0011740"	"Carney-Stratakis syndrome"	"Orphanet:97286"	"Orphanet:97286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10681"	"SDHB"	"Orphanet:97286"	"Carney-Stratakis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17667967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15262"	"2021-09-14"
"GENCC_000110-HGNC_10682-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:10682"	"SDHC"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10682"	"SDHC"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21979946[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15263"	"2021-09-14"
"GENCC_000110-HGNC_10682-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:10682"	"SDHC"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10682"	"SDHC"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301715[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15263"	"2021-09-14"
"GENCC_000110-HGNC_10682-Orphanet_97286-HP_0000006-GENCC_100009"	"HGNC:10682"	"SDHC"	"MONDO:0011740"	"Carney-Stratakis syndrome"	"Orphanet:97286"	"Orphanet:97286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10682"	"SDHC"	"Orphanet:97286"	"Carney-Stratakis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17667967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15263"	"2021-09-14"
"GENCC_000110-HGNC_10683-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:10683"	"SDHD"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10683"	"SDHD"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15264"	"2021-09-14"
"GENCC_000110-HGNC_10683-Orphanet_3208-HP_0000007-GENCC_100009"	"HGNC:10683"	"SDHD"	"MONDO:0009641"	"mitochondrial complex II deficiency"	"Orphanet:3208"	"Orphanet:3208"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10683"	"SDHD"	"Orphanet:3208"	"Isolated succinate-CoQ reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24367056[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15264"	"2021-09-14"
"GENCC_000110-HGNC_10683-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:10683"	"SDHD"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10683"	"SDHD"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301715[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15264"	"2021-09-14"
"GENCC_000110-HGNC_10683-Orphanet_97286-HP_0000006-GENCC_100009"	"HGNC:10683"	"SDHD"	"MONDO:0011740"	"Carney-Stratakis syndrome"	"Orphanet:97286"	"Orphanet:97286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10683"	"SDHD"	"Orphanet:97286"	"Carney-Stratakis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17667967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15264"	"2021-09-14"
"GENCC_000110-HGNC_10701-Orphanet_50814-HP_0000007-GENCC_100009"	"HGNC:10701"	"SEC23A"	"MONDO:0011911"	"craniolenticulosutural dysplasia"	"Orphanet:50814"	"Orphanet:50814"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10701"	"SEC23A"	"Orphanet:50814"	"Craniolenticulosutural dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16980979[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15265"	"2021-09-14"
"GENCC_000110-HGNC_21082-Orphanet_2924-HP_0000006-GENCC_100009"	"HGNC:21082"	"SEC63"	"MONDO:0008265"	"polycystic liver disease 1"	"Orphanet:2924"	"Orphanet:2924"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21082"	"SEC63"	"Orphanet:2924"	"Isolated polycystic liver disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24886261[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15266"	"2021-09-14"
"GENCC_000110-HGNC_15999-Orphanet_2020-HP_0000006-GENCC_100009"	"HGNC:15999"	"SELENON"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"Orphanet:2020"	"Orphanet:2020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15999"	"SELENON"	"Orphanet:2020"	"Congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15270"	"2021-09-14"
"GENCC_000110-HGNC_15999-Orphanet_84132-HP_0000007-GENCC_100009"	"HGNC:15999"	"SELENON"	"MONDO:0019398"	"desmin-related myopathy with Mallory body-like inclusions"	"Orphanet:84132"	"Orphanet:84132"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15999"	"SELENON"	"Orphanet:84132"	"Desmin-related myopathy with Mallory body-like inclusions"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15122708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15270"	"2021-09-14"
"GENCC_000110-HGNC_15999-Orphanet_97244-HP_0000007-GENCC_100009"	"HGNC:15999"	"SELENON"	"MONDO:0019951"	"rigid spine syndrome"	"Orphanet:97244"	"Orphanet:97244"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15999"	"SELENON"	"Orphanet:97244"	"Rigid spine syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301468[PMID]_11528383[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15270"	"2021-09-14"
"GENCC_000110-HGNC_8941-Orphanet_60-HP_0000007-GENCC_100009"	"HGNC:8941"	"SERPINA1"	"MONDO:0013282"	"alpha 1-antitrypsin deficiency"	"Orphanet:60"	"Orphanet:60"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8941"	"SERPINA1"	"Orphanet:60"	"Alpha-1-antitrypsin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301692[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15271"	"2021-09-14"
"GENCC_000110-HGNC_8941-Orphanet_178396-HP_0000006-GENCC_100009"	"HGNC:8941"	"SERPINA1"	"MONDO:0015801"	"hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"	"Orphanet:178396"	"Orphanet:178396"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8941"	"SERPINA1"	"Orphanet:178396"	"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19483159[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15271"	"2021-09-14"
"GENCC_000110-HGNC_775-Orphanet_82-HP_0000006-GENCC_100009"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"Orphanet:82"	"Orphanet:82"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:775"	"SERPINC1"	"Orphanet:82"	"Hereditary thrombophilia due to congenital antithrombin deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24684277[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15272"	"2021-09-14"
"GENCC_000110-HGNC_8583-Orphanet_465-HP_0000007-GENCC_100009"	"HGNC:8583"	"SERPINE1"	"MONDO:0013227"	"congenital plasminogen activator inhibitor type 1 deficiency"	"Orphanet:465"	"Orphanet:465"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8583"	"SERPINE1"	"Orphanet:465"	"Congenital plasminogen activator inhibitor type 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9207454[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15273"	"2021-09-14"
"GENCC_000110-HGNC_1228-Orphanet_100050-HP_0000006-GENCC_100009"	"HGNC:1228"	"SERPING1"	"MONDO:0015053"	"hereditary angioedema type 1"	"Orphanet:100050"	"Orphanet:100050"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1228"	"SERPING1"	"Orphanet:100050"	"Hereditary angioedema type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24456027[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15274"	"2021-09-14"
"GENCC_000110-HGNC_1228-Orphanet_100051-HP_0000006-GENCC_100009"	"HGNC:1228"	"SERPING1"	"MONDO:0015054"	"hereditary angioedema type 2"	"Orphanet:100051"	"Orphanet:100051"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1228"	"SERPING1"	"Orphanet:100051"	"Hereditary angioedema type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24456027[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15274"	"2021-09-14"
"GENCC_000110-HGNC_1228-Orphanet_459353-HP_0000006-GENCC_100009"	"HGNC:1228"	"SERPING1"	"MONDO:0007361"	"C1 inhibitor deficiency"	"Orphanet:459353"	"Orphanet:459353"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1228"	"SERPING1"	"Orphanet:459353"	"C1 inhibitor deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7883978[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15274"	"2021-09-14"
"GENCC_000110-HGNC_8943-Orphanet_85110-HP_0000006-GENCC_100009"	"HGNC:8943"	"SERPINI1"	"MONDO:0011412"	"familial encephalopathy with neuroserpin inclusion bodies"	"Orphanet:85110"	"Orphanet:85110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8943"	"SERPINI1"	"Orphanet:85110"	"Familial encephalopathy with neuroserpin inclusion bodies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12103288[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15275"	"2021-09-14"
"GENCC_000110-HGNC_445-Orphanet_64753-HP_0000007-GENCC_100009"	"HGNC:445"	"SETX"	"MONDO:0018996"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	"Orphanet:64753"	"Orphanet:64753"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:445"	"SETX"	"Orphanet:64753"	"Spinocerebellar ataxia with axonal neuropathy type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301333[PMID]_14770181[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15276"	"2021-09-14"
"GENCC_000110-HGNC_445-Orphanet_357043-HP_0000006-GENCC_100009"	"HGNC:445"	"SETX"	"MONDO:0011223"	"amyotrophic lateral sclerosis type 4"	"Orphanet:357043"	"Orphanet:357043"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:445"	"SETX"	"Orphanet:357043"	"Amyotrophic lateral sclerosis type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15106121[PMID]_15478096[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15276"	"2021-09-14"
"GENCC_000110-HGNC_10801-Orphanet_217563-HP_0000007-GENCC_100009"	"HGNC:10801"	"SFTPB"	"MONDO:0009929"	"surfactant metabolism dysfunction, pulmonary, 1"	"Orphanet:217563"	"Orphanet:217563"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10801"	"SFTPB"	"Orphanet:217563"	"Neonatal acute respiratory distress due to SP-B deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23330012[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15278"	"2021-09-14"
"GENCC_000110-HGNC_10802-Orphanet_217566-HP_0000006-GENCC_100009"	"HGNC:10802"	"SFTPC"	"MONDO:0016323"	"chronic respiratory distress with surfactant metabolism deficiency"	"Orphanet:217566"	"Orphanet:217566"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10802"	"SFTPC"	"Orphanet:217566"	"Chronic respiratory distress with surfactant metabolism deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22018035[PMID]_20403820[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15279"	"2021-09-14"
"GENCC_000110-HGNC_10802-Orphanet_440392-HP_0000006-GENCC_100009"	"HGNC:10802"	"SFTPC"	"MONDO:0018603"	"SFTPC- related interstitial lung disease"	"Orphanet:440392"	"Orphanet:440392"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10802"	"SFTPC"	"Orphanet:440392"	"Interstitial lung disease due to SP-C deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25782673[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15279"	"2021-09-14"
"GENCC_000110-HGNC_10805-Orphanet_62-HP_0000007-GENCC_100009"	"HGNC:10805"	"SGCA"	"MONDO:0011968"	"autosomal recessive limb-girdle muscular dystrophy type 2D"	"Orphanet:62"	"Orphanet:62"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10805"	"SGCA"	"Orphanet:62"	"Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19798725[PMID]_21856579[PMID]_20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15280"	"2021-09-14"
"GENCC_000110-HGNC_10806-Orphanet_119-HP_0000007-GENCC_100009"	"HGNC:10806"	"SGCB"	"MONDO:0011423"	"autosomal recessive limb-girdle muscular dystrophy type 2E"	"Orphanet:119"	"Orphanet:119"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10806"	"SGCB"	"Orphanet:119"	"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15281"	"2021-09-14"
"GENCC_000110-HGNC_10807-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:10807"	"SGCD"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10807"	"SGCD"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10974018[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15282"	"2021-09-14"
"GENCC_000110-HGNC_10807-Orphanet_219-HP_0000007-GENCC_100009"	"HGNC:10807"	"SGCD"	"MONDO:0011028"	"autosomal recessive limb-girdle muscular dystrophy type 2F"	"Orphanet:219"	"Orphanet:219"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10807"	"SGCD"	"Orphanet:219"	"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15282"	"2021-09-14"
"GENCC_000110-HGNC_10808-Orphanet_36899-HP_0000006-GENCC_100009"	"HGNC:10808"	"SGCE"	"MONDO:0000903"	"myoclonus-dystonia syndrome"	"Orphanet:36899"	"Orphanet:36899"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10808"	"SGCE"	"Orphanet:36899"	"Myoclonus-dystonia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15283"	"2021-09-14"
"GENCC_000110-HGNC_10809-Orphanet_353-HP_0000007-GENCC_100009"	"HGNC:10809"	"SGCG"	"MONDO:0009677"	"autosomal recessive limb-girdle muscular dystrophy type 2C"	"Orphanet:353"	"Orphanet:353"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10809"	"SGCG"	"Orphanet:353"	"Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15284"	"2021-09-14"
"GENCC_000110-HGNC_10818-Orphanet_79269-HP_0000007-GENCC_100009"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"Orphanet:79269"	"Orphanet:79269"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10818"	"SGSH"	"Orphanet:79269"	"Sanfilippo syndrome type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15146460[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15285"	"2021-09-14"
"GENCC_000110-HGNC_10820-Orphanet_538931-HP_0001417-GENCC_100009"	"HGNC:10820"	"SH2D1A"	"MONDO:0024551"	"X-linked lymphoproliferative disease due to SH2D1A deficiency"	"Orphanet:538931"	"Orphanet:538931"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:10820"	"SH2D1A"	"Orphanet:538931"	"X-linked lymphoproliferative disease due to SH2D1A deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301580[PMID]_28196537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15286"	"2021-09-14"
"GENCC_000110-HGNC_10825-Orphanet_184-HP_0000006-GENCC_100009"	"HGNC:10825"	"SH3BP2"	"MONDO:0007315"	"cherubism"	"Orphanet:184"	"Orphanet:184"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10825"	"SH3BP2"	"Orphanet:184"	"Cherubism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15287"	"2021-09-14"
"GENCC_000110-HGNC_29427-Orphanet_99949-HP_0000007-GENCC_100009"	"HGNC:29427"	"SH3TC2"	"MONDO:0011113"	"Charcot-Marie-Tooth disease type 4C"	"Orphanet:99949"	"Orphanet:99949"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29427"	"SH3TC2"	"Orphanet:99949"	"Charcot-Marie-Tooth disease type 4C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301514[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15288"	"2021-09-14"
"GENCC_000110-HGNC_10848-Orphanet_2162-HP_0000007-GENCC_100009"	"HGNC:10848"	"SHH"	"MONDO:0016296"	"holoprosencephaly"	"Orphanet:2162"	"Orphanet:2162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10848"	"SHH"	"Orphanet:2162"	"Holoprosencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29785796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15290"	"2021-09-14"
"GENCC_000110-HGNC_10848-Orphanet_2950-HP_0000006-GENCC_100009"	"HGNC:10848"	"SHH"	"MONDO:0017454"	"triphalangeal thumb-polysyndactyly syndrome"	"Orphanet:2950"	"Orphanet:2950"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10848"	"SHH"	"Orphanet:2950"	"Triphalangeal thumb-polysyndactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18178630[PMID]_19847792[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15290"	"2021-09-14"
"GENCC_000110-HGNC_10848-Orphanet_3332-HP_0000006-GENCC_100009"	"HGNC:10848"	"SHH"	"MONDO:0018052"	"hypoplastic tibiae-postaxial polydactyly syndrome"	"Orphanet:3332"	"Orphanet:3332"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10848"	"SHH"	"Orphanet:3332"	"Hypoplastic tibiae-postaxial polydactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19847792[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15290"	"2021-09-14"
"GENCC_000110-HGNC_10848-Orphanet_93336-HP_0000006-GENCC_100009"	"HGNC:10848"	"SHH"	"MONDO:0008270"	"polydactyly of a triphalangeal thumb"	"Orphanet:93336"	"Orphanet:93336"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10848"	"SHH"	"Orphanet:93336"	"Polydactyly of a triphalangeal thumb"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26394607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15290"	"2021-09-14"
"GENCC_000110-HGNC_10848-Orphanet_93405-HP_0000006-GENCC_100009"	"HGNC:10848"	"SHH"	"MONDO:0008515"	"syndactyly type 4"	"Orphanet:93405"	"Orphanet:93405"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10848"	"SHH"	"Orphanet:93405"	"Syndactyly type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15290"	"2021-09-14"
"GENCC_000110-HGNC_10848-Orphanet_98938-HP_0000006-GENCC_100009"	"HGNC:10848"	"SHH"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10848"	"SHH"	"Orphanet:98938"	"Colobomatous microphthalmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12503095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15290"	"2021-09-14"
"GENCC_000110-HGNC_10848-Orphanet_476119-HP_0000006-GENCC_100009"	"HGNC:10848"	"SHH"	"MONDO:0018777"	"autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"	"Orphanet:476119"	"Orphanet:476119"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10848"	"SHH"	"Orphanet:476119"	"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25782671[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15290"	"2021-09-14"
"GENCC_000110-HGNC_10853-Orphanet_240-HP_0000006-GENCC_100009"	"HGNC:10853"	"SHOX"	"MONDO:0007481"	"Leri-Weill dyschondrosteosis"	"Orphanet:240"	"Orphanet:240"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10853"	"SHOX"	"Orphanet:240"	"LÚri-Weill dyschondrosteosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301394[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15291"	"2021-09-14"
"GENCC_000110-HGNC_10853-Orphanet_2632-HP_0000007-GENCC_100009"	"HGNC:10853"	"SHOX"	"MONDO:0009588"	"Langer mesomelic dysplasia"	"Orphanet:2632"	"Orphanet:2632"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10853"	"SHOX"	"Orphanet:2632"	"Langer mesomelic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12116254[PMID]_20301394[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15291"	"2021-09-14"
"GENCC_000110-HGNC_10853-Orphanet_314795-HP_0000006-GENCC_100009"	"HGNC:10853"	"SHOX"	"MONDO:0010367"	"SHOX-related short stature"	"Orphanet:314795"	"Orphanet:314795"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10853"	"SHOX"	"Orphanet:314795"	"SHOX-related short stature"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15291"	"2021-09-14"
"GENCC_000110-HGNC_29215-Orphanet_85288-HP_0001417-GENCC_100009"	"HGNC:29215"	"SHROOM4"	"MONDO:0010325"	"X-linked intellectual disability, Stocco dos Santos type"	"Orphanet:85288"	"Orphanet:85288"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:29215"	"SHROOM4"	"Orphanet:85288"	"X-linked intellectual disability, Stocco Dos Santos type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16249884[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15292"	"2021-09-14"
"GENCC_000110-HGNC_10856-Orphanet_35122-HP_0000007-GENCC_100009"	"HGNC:10856"	"SI"	"MONDO:0009114"	"congenital sucrase-isomaltase deficiency"	"Orphanet:35122"	"Orphanet:35122"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10856"	"SI"	"Orphanet:35122"	"Congenital sucrase-isomaltase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15293"	"2021-09-14"
"GENCC_000110-HGNC_24624-Orphanet_559-HP_0000007-GENCC_100009"	"HGNC:24624"	"SIL1"	"MONDO:0009567"	"Marinesco-Sjogren syndrome"	"Orphanet:559"	"Orphanet:559"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24624"	"SIL1"	"Orphanet:559"	"Marinesco-Sj÷gren syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301371[PMID]_16650075[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15294"	"2021-09-14"
"GENCC_000110-HGNC_10887-Orphanet_107-HP_0000006-GENCC_100009"	"HGNC:10887"	"SIX1"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"Orphanet:107"	"Orphanet:107"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10887"	"SIX1"	"Orphanet:107"	"BOR syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15295"	"2021-09-14"
"GENCC_000110-HGNC_10887-Orphanet_52429-HP_0000006-GENCC_100009"	"HGNC:10887"	"SIX1"	"MONDO:0018878"	"branchiootic syndrome"	"Orphanet:52429"	"Orphanet:52429"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10887"	"SIX1"	"Orphanet:52429"	"Branchiootic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15141091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15295"	"2021-09-14"
"GENCC_000110-HGNC_10887-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:10887"	"SIX1"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10887"	"SIX1"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15295"	"2021-09-14"
"GENCC_000110-HGNC_10889-Orphanet_2162-HP_0000007-GENCC_100009"	"HGNC:10889"	"SIX3"	"MONDO:0016296"	"holoprosencephaly"	"Orphanet:2162"	"Orphanet:2162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10889"	"SIX3"	"Orphanet:2162"	"Holoprosencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29785796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15296"	"2021-09-14"
"GENCC_000110-HGNC_10892-Orphanet_435930-HP_0000007-GENCC_100009"	"HGNC:10892"	"SIX6"	"MONDO:0008927"	"colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"	"Orphanet:435930"	"Orphanet:435930"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10892"	"SIX6"	"Orphanet:435930"	"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24702266[PMID]_23167593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15297"	"2021-09-14"
"GENCC_000110-HGNC_10908-Orphanet_83642-HP_0000007-GENCC_100009"	"HGNC:10908"	"SLC11A2"	"MONDO:0008787"	"microcytic anemia with liver iron overload"	"Orphanet:83642"	"Orphanet:83642"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10908"	"SLC11A2"	"Orphanet:83642"	"Microcytic anemia with liver iron overload"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16160008[PMID]_16439678[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15298"	"2021-09-14"
"GENCC_000110-HGNC_10910-Orphanet_93604-HP_0000007-GENCC_100009"	"HGNC:10910"	"SLC12A1"	"MONDO:0100343"	"antenatal Bartter syndrome"	"Orphanet:93604"	"Orphanet:93604"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10910"	"SLC12A1"	"Orphanet:93604"	"Antenatal Bartter syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9585600[PMID]_17998760[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15299"	"2021-09-14"
"GENCC_000110-HGNC_10912-Orphanet_358-HP_0000007-GENCC_100009"	"HGNC:10912"	"SLC12A3"	"MONDO:0009904"	"Gitelman syndrome"	"Orphanet:358"	"Orphanet:358"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10912"	"SLC12A3"	"Orphanet:358"	"Gitelman syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22169961[PMID]_22990302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15300"	"2021-09-14"
"GENCC_000110-HGNC_10914-Orphanet_1496-HP_0000007-GENCC_100009"	"HGNC:10914"	"SLC12A6"	"MONDO:0000902"	"agenesis of the corpus callosum with peripheral neuropathy"	"Orphanet:1496"	"Orphanet:1496"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10914"	"SLC12A6"	"Orphanet:1496"	"Corpus callosum agenesis-neuronopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301546[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15301"	"2021-09-14"
"GENCC_000110-HGNC_10923-Orphanet_59-HP_0001417-GENCC_100009"	"HGNC:10923"	"SLC16A2"	"MONDO:0010354"	"Allan-Herndon-Dudley syndrome"	"Orphanet:59"	"Orphanet:59"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:10923"	"SLC16A2"	"Orphanet:59"	"Allan-Herndon-Dudley syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301789[PMID]_18398436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15302"	"2021-09-14"
"GENCC_000110-HGNC_10933-Orphanet_309324-HP_0000007-GENCC_100009"	"HGNC:10933"	"SLC17A5"	"MONDO:0010027"	"free sialic acid storage disease, infantile form"	"Orphanet:309324"	"Orphanet:309324"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10933"	"SLC17A5"	"Orphanet:309324"	"Free sialic acid storage disease, infantile form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301643[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15303"	"2021-09-14"
"GENCC_000110-HGNC_10933-Orphanet_309331-HP_0000007-GENCC_100009"	"HGNC:10933"	"SLC17A5"	"MONDO:0017737"	"intermediate severe Salla disease"	"Orphanet:309331"	"Orphanet:309331"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10933"	"SLC17A5"	"Orphanet:309331"	"Intermediate severe Salla disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301643[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15303"	"2021-09-14"
"GENCC_000110-HGNC_10933-Orphanet_309334-HP_0000007-GENCC_100009"	"HGNC:10933"	"SLC17A5"	"MONDO:0011449"	"Salla disease"	"Orphanet:309334"	"Orphanet:309334"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10933"	"SLC17A5"	"Orphanet:309334"	"Salla disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301643[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15303"	"2021-09-14"
"GENCC_000110-HGNC_10938-Orphanet_49827-HP_0000007-GENCC_100009"	"HGNC:10938"	"SLC19A2"	"MONDO:0009575"	"thiamine-responsive megaloblastic anemia syndrome"	"Orphanet:49827"	"Orphanet:49827"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10938"	"SLC19A2"	"Orphanet:49827"	"Thiamine-responsive megaloblastic anemia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15304"	"2021-09-14"
"GENCC_000110-HGNC_16266-Orphanet_65284-HP_0000007-GENCC_100009"	"HGNC:16266"	"SLC19A3"	"MONDO:0011841"	"biotin-responsive basal ganglia disease"	"Orphanet:65284"	"Orphanet:65284"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16266"	"SLC19A3"	"Orphanet:65284"	"Biotin-thiamine-responsive basal ganglia disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24260777[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15305"	"2021-09-14"
"GENCC_000110-HGNC_16266-Orphanet_199348-HP_0000007-GENCC_100009"	"HGNC:16266"	"SLC19A3"	"MONDO:0016050"	"thiamine-responsive encephalopathy"	"Orphanet:199348"	"Orphanet:199348"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16266"	"SLC19A3"	"Orphanet:199348"	"Thiamine-responsive encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19387023[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15305"	"2021-09-14"
"GENCC_000110-HGNC_16266-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:16266"	"SLC19A3"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16266"	"SLC19A3"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23423671[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15305"	"2021-09-14"
"GENCC_000110-HGNC_16266-Orphanet_263410-HP_0000007-GENCC_100009"	"HGNC:16266"	"SLC19A3"	"MONDO:0016981"	"infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"	"Orphanet:263410"	"Orphanet:263410"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16266"	"SLC19A3"	"Orphanet:263410"	"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21176162[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15305"	"2021-09-14"
"GENCC_000110-HGNC_10969-Orphanet_158-HP_0000007-GENCC_100009"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"Orphanet:158"	"Orphanet:158"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10969"	"SLC22A5"	"Orphanet:158"	"Systemic primary carnitine deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22989098[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15308"	"2021-09-14"
"GENCC_000110-HGNC_10983-Orphanet_247585-HP_0000007-GENCC_100009"	"HGNC:10983"	"SLC25A13"	"MONDO:0016603"	"citrullinemia type II"	"Orphanet:247585"	"Orphanet:247585"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10983"	"SLC25A13"	"Orphanet:247585"	"Citrullinemia type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301360[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15309"	"2021-09-14"
"GENCC_000110-HGNC_10983-Orphanet_247598-HP_0000007-GENCC_100009"	"HGNC:10983"	"SLC25A13"	"MONDO:0011601"	"neonatal intrahepatic cholestasis due to citrin deficiency"	"Orphanet:247598"	"Orphanet:247598"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10983"	"SLC25A13"	"Orphanet:247598"	"Neonatal intrahepatic cholestasis due to citrin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301360[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15309"	"2021-09-14"
"GENCC_000110-HGNC_10985-Orphanet_415-HP_0000007-GENCC_100009"	"HGNC:10985"	"SLC25A15"	"MONDO:0009393"	"ornithine translocase deficiency"	"Orphanet:415"	"Orphanet:415"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10985"	"SLC25A15"	"Orphanet:415"	"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22649802[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15310"	"2021-09-14"
"GENCC_000110-HGNC_14409-Orphanet_99742-HP_0000007-GENCC_100009"	"HGNC:14409"	"SLC25A19"	"MONDO:0011790"	"Amish lethal microcephaly"	"Orphanet:99742"	"Orphanet:99742"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14409"	"SLC25A19"	"Orphanet:99742"	"Amish lethal microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301539[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15311"	"2021-09-14"
"GENCC_000110-HGNC_14409-Orphanet_217396-HP_0000007-GENCC_100009"	"HGNC:14409"	"SLC25A19"	"MONDO:0013382"	"progressive demyelinating neuropathy with bilateral striatal necrosis"	"Orphanet:217396"	"Orphanet:217396"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14409"	"SLC25A19"	"Orphanet:217396"	"Progressive polyneuropathy with bilateral striatal necrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19798730[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15311"	"2021-09-14"
"GENCC_000110-HGNC_1421-Orphanet_159-HP_0000007-GENCC_100009"	"HGNC:1421"	"SLC25A20"	"MONDO:0008918"	"carnitine-acylcarnitine translocase deficiency"	"Orphanet:159"	"Orphanet:159"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1421"	"SLC25A20"	"Orphanet:159"	"Carnitine-acylcarnitine translocase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15312"	"2021-09-14"
"GENCC_000110-HGNC_19954-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:19954"	"SLC25A22"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19954"	"SLC25A22"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19780765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15313"	"2021-09-14"
"GENCC_000110-HGNC_19954-Orphanet_1935-HP_0000006-GENCC_100009"	"HGNC:19954"	"SLC25A22"	"MONDO:0016022"	"early myoclonic encephalopathy"	"Orphanet:1935"	"Orphanet:1935"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19954"	"SLC25A22"	"Orphanet:1935"	"Early myoclonic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15592994[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15313"	"2021-09-14"
"GENCC_000110-HGNC_19954-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:19954"	"SLC25A22"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19954"	"SLC25A22"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24596948[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15313"	"2021-09-14"
"GENCC_000110-HGNC_10990-Orphanet_1369-HP_0000007-GENCC_100009"	"HGNC:10990"	"SLC25A4"	"MONDO:0008922"	"Sengers syndrome"	"Orphanet:1369"	"Orphanet:1369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10990"	"SLC25A4"	"Orphanet:1369"	"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22187496[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15314"	"2021-09-14"
"GENCC_000110-HGNC_10990-Orphanet_254892-HP_0000006-GENCC_100009"	"HGNC:10990"	"SLC25A4"	"MONDO:0008003"	"autosomal dominant progressive external ophthalmoplegia"	"Orphanet:254892"	"Orphanet:254892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10990"	"SLC25A4"	"Orphanet:254892"	"Autosomal dominant progressive external ophthalmoplegia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21519523[PMID]_10926541[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15314"	"2021-09-14"
"GENCC_000110-HGNC_10994-Orphanet_628-HP_0000007-GENCC_100009"	"HGNC:10994"	"SLC26A2"	"MONDO:0009107"	"diastrophic dysplasia"	"Orphanet:628"	"Orphanet:628"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10994"	"SLC26A2"	"Orphanet:628"	"Diastrophic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301524[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15315"	"2021-09-14"
"GENCC_000110-HGNC_10994-Orphanet_56304-HP_0000007-GENCC_100009"	"HGNC:10994"	"SLC26A2"	"MONDO:0009727"	"atelosteogenesis type II"	"Orphanet:56304"	"Orphanet:56304"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10994"	"SLC26A2"	"Orphanet:56304"	"Atelosteogenesis type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15315"	"2021-09-14"
"GENCC_000110-HGNC_10994-Orphanet_93298-HP_0000007-GENCC_100009"	"HGNC:10994"	"SLC26A2"	"MONDO:0010966"	"achondrogenesis type IB"	"Orphanet:93298"	"Orphanet:93298"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10994"	"SLC26A2"	"Orphanet:93298"	"Achondrogenesis type 1B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301689[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15315"	"2021-09-14"
"GENCC_000110-HGNC_10994-Orphanet_93307-HP_0000007-GENCC_100009"	"HGNC:10994"	"SLC26A2"	"MONDO:0009189"	"multiple epiphyseal dysplasia type 4"	"Orphanet:93307"	"Orphanet:93307"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10994"	"SLC26A2"	"Orphanet:93307"	"Multiple epiphyseal dysplasia type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301483[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15315"	"2021-09-14"
"GENCC_000110-HGNC_3018-Orphanet_53689-HP_0000007-GENCC_100009"	"HGNC:3018"	"SLC26A3"	"MONDO:0008964"	"congenital secretory chloride diarrhea 1"	"Orphanet:53689"	"Orphanet:53689"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3018"	"SLC26A3"	"Orphanet:53689"	"Congenital chloride diarrhea"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11524734[PMID]_21394828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15316"	"2021-09-14"
"GENCC_000110-HGNC_8818-Orphanet_705-HP_0000007-GENCC_100009"	"HGNC:8818"	"SLC26A4"	"MONDO:0010134"	"Pendred syndrome"	"Orphanet:705"	"Orphanet:705"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8818"	"SLC26A4"	"Orphanet:705"	"Pendred syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301640[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15317"	"2021-09-14"
"GENCC_000110-HGNC_8818-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:8818"	"SLC26A4"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8818"	"SLC26A4"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15317"	"2021-09-14"
"GENCC_000110-HGNC_8818-Orphanet_95713-HP_0000006-GENCC_100009"	"HGNC:8818"	"SLC26A4"	"MONDO:0019855"	"athyreosis"	"Orphanet:95713"	"Orphanet:95713"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8818"	"SLC26A4"	"Orphanet:95713"	"Athyreosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24248179[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15317"	"2021-09-14"
"GENCC_000110-HGNC_8818-Orphanet_95720-HP_0000006-GENCC_100009"	"HGNC:8818"	"SLC26A4"	"MONDO:0019861"	"thyroid hypoplasia"	"Orphanet:95720"	"Orphanet:95720"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8818"	"SLC26A4"	"Orphanet:95720"	"Thyroid hypoplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24248179[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15317"	"2021-09-14"
"GENCC_000110-HGNC_13444-Orphanet_3342-HP_0000007-GENCC_100009"	"HGNC:13444"	"SLC2A10"	"MONDO:0008818"	"arterial tortuosity syndrome"	"Orphanet:3342"	"Orphanet:3342"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13444"	"SLC2A10"	"Orphanet:3342"	"Arterial tortuosity syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16550171[PMID]_17935213[PMID]_20547159[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15318"	"2021-09-14"
"GENCC_000110-HGNC_11006-Orphanet_2088-HP_0000007-GENCC_100009"	"HGNC:11006"	"SLC2A2"	"MONDO:0009216"	"glycogen storage disease due to GLUT2 deficiency"	"Orphanet:2088"	"Orphanet:2088"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11006"	"SLC2A2"	"Orphanet:2088"	"Fanconi-Bickel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21327337[PMID]_22865906[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15319"	"2021-09-14"
"GENCC_000110-HGNC_11020-Orphanet_60025-HP_0000007-GENCC_100009"	"HGNC:11020"	"SLC34A2"	"MONDO:0009928"	"pulmonary alveolar microlithiasis"	"Orphanet:60025"	"Orphanet:60025"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11020"	"SLC34A2"	"Orphanet:60025"	"Pulmonary alveolar microlithiasis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20046000[PMID]_23164546[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15320"	"2021-09-14"
"GENCC_000110-HGNC_20305-Orphanet_157215-HP_0000007-GENCC_100009"	"HGNC:20305"	"SLC34A3"	"MONDO:0009431"	"hereditary hypophosphatemic rickets with hypercalciuria"	"Orphanet:157215"	"Orphanet:157215"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20305"	"SLC34A3"	"Orphanet:157215"	"Hereditary hypophosphatemic rickets with hypercalciuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16358215[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15321"	"2021-09-14"
"GENCC_000110-HGNC_20197-Orphanet_99843-HP_0000007-GENCC_100009"	"HGNC:20197"	"SLC35C1"	"MONDO:0009953"	"leukocyte adhesion deficiency type II"	"Orphanet:99843"	"Orphanet:99843"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20197"	"SLC35C1"	"Orphanet:99843"	"Leukocyte adhesion deficiency type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15322"	"2021-09-14"
"GENCC_000110-HGNC_811-Orphanet_53347-HP_0000006-GENCC_100009"	"HGNC:811"	"ATP2A1"	"MONDO:0010977"	"Brody myopathy"	"Orphanet:53347"	"Orphanet:53347"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:811"	"ATP2A1"	"Orphanet:53347"	"Brody myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10914677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15323"	"2021-09-14"
"GENCC_000110-HGNC_812-Orphanet_218-HP_0000006-GENCC_100009"	"HGNC:812"	"ATP2A2"	"MONDO:0007417"	"Darier disease"	"Orphanet:218"	"Orphanet:218"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:812"	"ATP2A2"	"Orphanet:218"	"Darier disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22909361[PMID]_23356892[PMID]_23621824[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15324"	"2021-09-14"
"GENCC_000110-HGNC_812-Orphanet_79151-HP_0000006-GENCC_100009"	"HGNC:812"	"ATP2A2"	"MONDO:0007048"	"acrokeratosis verruciformis"	"Orphanet:79151"	"Orphanet:79151"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:812"	"ATP2A2"	"Orphanet:79151"	"Acrokeratosis verruciformis of Hopf"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12542527[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15324"	"2021-09-14"
"GENCC_000110-HGNC_13211-Orphanet_2841-HP_0000006-GENCC_100009"	"HGNC:13211"	"ATP2C1"	"MONDO:0008218"	"Hailey-Hailey disease"	"Orphanet:2841"	"Orphanet:2841"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13211"	"ATP2C1"	"Orphanet:2841"	"Familial benign chronic pemphigus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10615129[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15325"	"2021-09-14"
"GENCC_000110-HGNC_18305-Orphanet_93952-HP_0001417-GENCC_100009"	"HGNC:18305"	"ATP6AP2"	"MONDO:0010319"	"syndromic X-linked intellectual disability Hedera type"	"Orphanet:93952"	"Orphanet:93952"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18305"	"ATP6AP2"	"Orphanet:93952"	"X-linked intellectual disability, Hedera type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15746149[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15326"	"2021-09-14"
"GENCC_000110-HGNC_18305-Orphanet_363654-HP_0001417-GENCC_100009"	"HGNC:18305"	"ATP6AP2"	"MONDO:0010482"	"X-linked parkinsonism-spasticity syndrome"	"Orphanet:363654"	"Orphanet:363654"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18305"	"ATP6AP2"	"Orphanet:363654"	"X-linked parkinsonism-spasticity syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23595882[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15326"	"2021-09-14"
"GENCC_000110-HGNC_866-Orphanet_402041-HP_0000007-GENCC_100009"	"HGNC:866"	"ATP6V0A4"	"MONDO:0018440"	"autosomal recessive distal renal tubular acidosis"	"Orphanet:402041"	"Orphanet:402041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:866"	"ATP6V0A4"	"Orphanet:402041"	"Autosomal recessive distal renal tubular acidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23729491[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15327"	"2021-09-14"
"GENCC_000110-HGNC_853-Orphanet_402041-HP_0000007-GENCC_100009"	"HGNC:853"	"ATP6V1B1"	"MONDO:0018440"	"autosomal recessive distal renal tubular acidosis"	"Orphanet:402041"	"Orphanet:402041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:853"	"ATP6V1B1"	"Orphanet:402041"	"Autosomal recessive distal renal tubular acidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23729491[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15328"	"2021-09-14"
"GENCC_000110-HGNC_869-Orphanet_565-HP_0001417-GENCC_100009"	"HGNC:869"	"ATP7A"	"MONDO:0010651"	"Menkes disease"	"Orphanet:565"	"Orphanet:565"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:869"	"ATP7A"	"Orphanet:565"	"Menkes disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301586[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15329"	"2021-09-14"
"GENCC_000110-HGNC_869-Orphanet_388-HP_0000006-GENCC_100009"	"HGNC:869"	"ATP7A"	"MONDO:0018309"	"Hirschsprung disease"	"Orphanet:388"	"Orphanet:388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:869"	"ATP7A"	"Orphanet:388"	"Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33151932[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15329"	"2021-09-14"
"GENCC_000110-HGNC_869-Orphanet_198-HP_0001417-GENCC_100009"	"HGNC:869"	"ATP7A"	"MONDO:0010572"	"occipital horn syndrome"	"Orphanet:198"	"Orphanet:198"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:869"	"ATP7A"	"Orphanet:198"	"Occipital horn syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301586[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15329"	"2021-09-14"
"GENCC_000110-HGNC_869-Orphanet_139557-HP_0001417-GENCC_100009"	"HGNC:869"	"ATP7A"	"MONDO:0010338"	"X-linked distal spinal muscular atrophy type 3"	"Orphanet:139557"	"Orphanet:139557"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:869"	"ATP7A"	"Orphanet:139557"	"X-linked distal spinal muscular atrophy type 3"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20170900[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15329"	"2021-09-14"
"GENCC_000110-HGNC_870-Orphanet_905-HP_0000007-GENCC_100009"	"HGNC:870"	"ATP7B"	"MONDO:0010200"	"Wilson disease"	"Orphanet:905"	"Orphanet:905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:870"	"ATP7B"	"Orphanet:905"	"Wilson disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23333878[PMID]_22240481[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15330"	"2021-09-14"
"GENCC_000110-HGNC_3706-Orphanet_79306-HP_0000007-GENCC_100009"	"HGNC:3706"	"ATP8B1"	"MONDO:0008892"	"progressive familial intrahepatic cholestasis type 1"	"Orphanet:79306"	"Orphanet:79306"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3706"	"ATP8B1"	"Orphanet:79306"	"Progressive familial intrahepatic cholestasis type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15331"	"2021-09-14"
"GENCC_000110-HGNC_18802-Orphanet_254913-HP_0000007-GENCC_100009"	"HGNC:18802"	"ATPAF2"	"MONDO:0014471"	"mitochondrial proton-transporting ATP synthase complex deficiency"	"Orphanet:254913"	"Orphanet:254913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18802"	"ATPAF2"	"Orphanet:254913"	"Isolated ATP synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14757859[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15332"	"2021-09-14"
"GENCC_000110-HGNC_882-Orphanet_808-HP_0000007-GENCC_100009"	"HGNC:882"	"ATR"	"MONDO:0019342"	"Seckel syndrome"	"Orphanet:808"	"Orphanet:808"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:882"	"ATR"	"Orphanet:808"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12640452[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15333"	"2021-09-14"
"GENCC_000110-HGNC_882-Orphanet_313846-HP_0000006-GENCC_100009"	"HGNC:882"	"ATR"	"MONDO:0013806"	"familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"	"Orphanet:313846"	"Orphanet:313846"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:882"	"ATR"	"Orphanet:313846"	"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22341969[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15333"	"2021-09-14"
"GENCC_000110-HGNC_886-Orphanet_847-HP_0001417-GENCC_100009"	"HGNC:886"	"ATRX"	"MONDO:0010519"	"alpha thalassemia-X-linked intellectual disability syndrome"	"Orphanet:847"	"Orphanet:847"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:886"	"ATRX"	"Orphanet:847"	"Alpha-thalassemia-X-linked intellectual disability syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301622[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15335"	"2021-09-14"
"GENCC_000110-HGNC_10548-Orphanet_98755-HP_0000006-GENCC_100009"	"HGNC:10548"	"ATXN1"	"MONDO:0008119"	"spinocerebellar ataxia type 1"	"Orphanet:98755"	"Orphanet:98755"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10548"	"ATXN1"	"Orphanet:98755"	"Spinocerebellar ataxia type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15336"	"2021-09-14"
"GENCC_000110-HGNC_10549-Orphanet_98761-HP_0000006-GENCC_100009"	"HGNC:10549"	"ATXN10"	"MONDO:0011330"	"spinocerebellar ataxia type 10"	"Orphanet:98761"	"Orphanet:98761"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10549"	"ATXN10"	"Orphanet:98761"	"Spinocerebellar ataxia type 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15337"	"2021-09-14"
"GENCC_000110-HGNC_10555-Orphanet_98756-HP_0000006-GENCC_100009"	"HGNC:10555"	"ATXN2"	"MONDO:0008458"	"spinocerebellar ataxia type 2"	"Orphanet:98756"	"Orphanet:98756"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10555"	"ATXN2"	"Orphanet:98756"	"Spinocerebellar ataxia type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15338"	"2021-09-14"
"GENCC_000110-HGNC_7106-Orphanet_276238-HP_0000006-GENCC_100009"	"HGNC:7106"	"ATXN3"	"MONDO:0017174"	"Machado-Joseph disease type 1"	"Orphanet:276238"	"Orphanet:276238"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7106"	"ATXN3"	"Orphanet:276238"	"Machado-Joseph disease type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15339"	"2021-09-14"
"GENCC_000110-HGNC_7106-Orphanet_276241-HP_0000006-GENCC_100009"	"HGNC:7106"	"ATXN3"	"MONDO:0017175"	"Machado-Joseph disease type 2"	"Orphanet:276241"	"Orphanet:276241"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7106"	"ATXN3"	"Orphanet:276241"	"Machado-Joseph disease type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15339"	"2021-09-14"
"GENCC_000110-HGNC_7106-Orphanet_276244-HP_0000006-GENCC_100009"	"HGNC:7106"	"ATXN3"	"MONDO:0017176"	"Machado-Joseph disease type 3"	"Orphanet:276244"	"Orphanet:276244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7106"	"ATXN3"	"Orphanet:276244"	"Machado-Joseph disease type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15339"	"2021-09-14"
"GENCC_000110-HGNC_10560-Orphanet_94147-HP_0000006-GENCC_100009"	"HGNC:10560"	"ATXN7"	"MONDO:0008120"	"spinocerebellar ataxia type 7"	"Orphanet:94147"	"Orphanet:94147"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10560"	"ATXN7"	"Orphanet:94147"	"Spinocerebellar ataxia type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15340"	"2021-09-14"
"GENCC_000110-HGNC_32925-Orphanet_98760-HP_0000006-GENCC_100009"	"HGNC:32925"	"ATXN8"	"MONDO:0012116"	"spinocerebellar ataxia type 8"	"Orphanet:98760"	"Orphanet:98760"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:32925"	"ATXN8"	"Orphanet:98760"	"Spinocerebellar ataxia type 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15341"	"2021-09-14"
"GENCC_000110-HGNC_890-Orphanet_67046-HP_0000007-GENCC_100009"	"HGNC:890"	"AUH"	"MONDO:0009610"	"3-methylglutaconic aciduria type 1"	"Orphanet:67046"	"Orphanet:67046"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:890"	"AUH"	"Orphanet:67046"	"3-methylglutaconic aciduria type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12434311[PMID]_12655555[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15342"	"2021-09-14"
"GENCC_000110-HGNC_894-Orphanet_30925-HP_0000006-GENCC_100009"	"HGNC:894"	"AVP"	"MONDO:0007450"	"neurohypophyseal diabetes insipidus"	"Orphanet:30925"	"Orphanet:30925"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:894"	"AVP"	"Orphanet:30925"	"Hereditary central diabetes insipidus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14673472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15343"	"2021-09-14"
"GENCC_000110-HGNC_897-Orphanet_223-HP_0000006-GENCC_100009"	"HGNC:897"	"AVPR2"	"MONDO:0016383"	"nephrogenic diabetes insipidus"	"Orphanet:223"	"Orphanet:223"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:897"	"AVPR2"	"Orphanet:223"	"Nephrogenic diabetes insipidus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301356[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15344"	"2021-09-14"
"GENCC_000110-HGNC_897-Orphanet_93606-HP_0001417-GENCC_100009"	"HGNC:897"	"AVPR2"	"MONDO:0010356"	"nephrogenic syndrome of inappropriate antidiuresis"	"Orphanet:93606"	"Orphanet:93606"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:897"	"AVPR2"	"Orphanet:93606"	"Nephrogenic syndrome of inappropriate antidiuresis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17229917[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15344"	"2021-09-14"
"GENCC_000110-HGNC_904-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:904"	"AXIN2"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:904"	"AXIN2"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15346"	"2021-09-14"
"GENCC_000110-HGNC_904-Orphanet_300576-HP_0000006-GENCC_100009"	"HGNC:904"	"AXIN2"	"MONDO:0012075"	"oligodontia-cancer predisposition syndrome"	"Orphanet:300576"	"Orphanet:300576"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:904"	"AXIN2"	"Orphanet:300576"	"Oligodontia-cancer predisposition syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15042511[PMID]_21416598[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15346"	"2021-09-14"
"GENCC_000110-HGNC_20207-Orphanet_709-HP_0000007-GENCC_100009"	"HGNC:20207"	"B3GLCT"	"MONDO:0009856"	"Peters plus syndrome"	"Orphanet:709"	"Orphanet:709"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20207"	"B3GLCT"	"Orphanet:709"	"Peters plus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301637[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15348"	"2021-09-14"
"GENCC_000110-HGNC_924-Orphanet_79332-HP_0000007-GENCC_100009"	"HGNC:924"	"B4GALT1"	"MONDO:0011772"	"B4GALT1-congenital disorder of glycosylation"	"Orphanet:79332"	"Orphanet:79332"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:924"	"B4GALT1"	"Orphanet:79332"	"B4GALT1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15349"	"2021-09-14"
"GENCC_000110-HGNC_930-Orphanet_75496-HP_0000007-GENCC_100009"	"HGNC:930"	"B4GALT7"	"MONDO:0007526"	"Ehlers-Danlos syndrome, spondylodysplastic type"	"Orphanet:75496"	"Orphanet:75496"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:930"	"B4GALT7"	"Orphanet:75496"	"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15211654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15350"	"2021-09-14"
"GENCC_000110-HGNC_966-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:966"	"BBS1"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:966"	"BBS1"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15352"	"2021-09-14"
"GENCC_000110-HGNC_26291-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:26291"	"BBS10"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26291"	"BBS10"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23219996[PMID]_23403234[PMID]_20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15353"	"2021-09-14"
"GENCC_000110-HGNC_967-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:967"	"BBS2"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:967"	"BBS2"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25541840[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15354"	"2021-09-14"
"GENCC_000110-HGNC_967-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:967"	"BBS2"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:967"	"BBS2"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15354"	"2021-09-14"
"GENCC_000110-HGNC_969-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:969"	"BBS4"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:969"	"BBS4"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15355"	"2021-09-14"
"GENCC_000110-HGNC_970-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:970"	"BBS5"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:970"	"BBS5"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15356"	"2021-09-14"
"GENCC_000110-HGNC_18758-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:18758"	"BBS7"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18758"	"BBS7"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15357"	"2021-09-14"
"GENCC_000110-HGNC_30000-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:30000"	"BBS9"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30000"	"BBS9"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15358"	"2021-09-14"
"GENCC_000110-HGNC_983-Orphanet_132-HP_0000007-GENCC_100009"	"HGNC:983"	"BCHE"	"MONDO:0015270"	"butyrylcholinesterase deficiency"	"Orphanet:132"	"Orphanet:132"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:983"	"BCHE"	"Orphanet:132"	"Butyrylcholinesterase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25054547[PMID]_25448037[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15359"	"2021-09-14"
"GENCC_000110-HGNC_986-Orphanet_268145-HP_0000007-GENCC_100009"	"HGNC:986"	"BCKDHA"	"MONDO:0017051"	"classic maple syrup urine disease"	"Orphanet:268145"	"Orphanet:268145"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:986"	"BCKDHA"	"Orphanet:268145"	"Classic maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15360"	"2021-09-14"
"GENCC_000110-HGNC_986-Orphanet_268162-HP_0000007-GENCC_100009"	"HGNC:986"	"BCKDHA"	"MONDO:0017052"	"intermediate maple syrup urine disease"	"Orphanet:268162"	"Orphanet:268162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:986"	"BCKDHA"	"Orphanet:268162"	"Intermediate maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15360"	"2021-09-14"
"GENCC_000110-HGNC_986-Orphanet_268173-HP_0000007-GENCC_100009"	"HGNC:986"	"BCKDHA"	"MONDO:0017053"	"intermittent maple syrup urine disease"	"Orphanet:268173"	"Orphanet:268173"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:986"	"BCKDHA"	"Orphanet:268173"	"Intermittent maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15360"	"2021-09-14"
"GENCC_000110-HGNC_986-Orphanet_268184-HP_0000007-GENCC_100009"	"HGNC:986"	"BCKDHA"	"MONDO:0017054"	"thiamine-responsive maple syrup urine disease"	"Orphanet:268184"	"Orphanet:268184"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:986"	"BCKDHA"	"Orphanet:268184"	"Thiamine-responsive maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15360"	"2021-09-14"
"GENCC_000110-HGNC_987-Orphanet_268145-HP_0000007-GENCC_100009"	"HGNC:987"	"BCKDHB"	"MONDO:0017051"	"classic maple syrup urine disease"	"Orphanet:268145"	"Orphanet:268145"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:987"	"BCKDHB"	"Orphanet:268145"	"Classic maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15361"	"2021-09-14"
"GENCC_000110-HGNC_987-Orphanet_268162-HP_0000007-GENCC_100009"	"HGNC:987"	"BCKDHB"	"MONDO:0017052"	"intermediate maple syrup urine disease"	"Orphanet:268162"	"Orphanet:268162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:987"	"BCKDHB"	"Orphanet:268162"	"Intermediate maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15361"	"2021-09-14"
"GENCC_000110-HGNC_987-Orphanet_268173-HP_0000007-GENCC_100009"	"HGNC:987"	"BCKDHB"	"MONDO:0017053"	"intermittent maple syrup urine disease"	"Orphanet:268173"	"Orphanet:268173"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:987"	"BCKDHB"	"Orphanet:268173"	"Intermittent maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15361"	"2021-09-14"
"GENCC_000110-HGNC_987-Orphanet_268184-HP_0000007-GENCC_100009"	"HGNC:987"	"BCKDHB"	"MONDO:0017054"	"thiamine-responsive maple syrup urine disease"	"Orphanet:268184"	"Orphanet:268184"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:987"	"BCKDHB"	"Orphanet:268184"	"Thiamine-responsive maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15361"	"2021-09-14"
"GENCC_000110-HGNC_20893-Orphanet_568-HP_0001417-GENCC_100009"	"HGNC:20893"	"BCOR"	"MONDO:0018924"	"microphthalmia, Lenz type"	"Orphanet:568"	"Orphanet:568"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:20893"	"BCOR"	"Orphanet:568"	"Microphthalmia, Lenz type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301694[PMID]_15004558[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15364"	"2021-09-14"
"GENCC_000110-HGNC_20893-Orphanet_2712-HP_0001417-GENCC_100009"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"Orphanet:2712"	"Orphanet:2712"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:20893"	"BCOR"	"Orphanet:2712"	"Oculofaciocardiodental syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22301464[PMID]_15004558[PMID]_15770227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15364"	"2021-09-14"
"GENCC_000110-HGNC_1020-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:1020"	"BCS1L"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1020"	"BCS1L"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17403714[PMID]_19162478[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15366"	"2021-09-14"
"GENCC_000110-HGNC_1020-Orphanet_123-HP_0000007-GENCC_100009"	"HGNC:1020"	"BCS1L"	"MONDO:0009872"	"Bjornstad syndrome"	"Orphanet:123"	"Orphanet:123"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1020"	"BCS1L"	"Orphanet:123"	"Bj÷rnstad syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17314340[PMID]_24172246[PMID]_24236502[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15366"	"2021-09-14"
"GENCC_000110-HGNC_1020-Orphanet_53693-HP_0000007-GENCC_100009"	"HGNC:1020"	"BCS1L"	"MONDO:0011308"	"GRACILE syndrome"	"Orphanet:53693"	"Orphanet:53693"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1020"	"BCS1L"	"Orphanet:53693"	"GRACILE syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12215968[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15366"	"2021-09-14"
"GENCC_000110-HGNC_1020-Orphanet_254902-HP_0000007-GENCC_100009"	"HGNC:1020"	"BCS1L"	"MONDO:0016811"	"renal tubulopathy-encephalopathy-liver failure syndrome"	"Orphanet:254902"	"Orphanet:254902"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1020"	"BCS1L"	"Orphanet:254902"	"Renal tubulopathy-encephalopathy-liver failure syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11528392[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15366"	"2021-09-14"
"GENCC_000110-HGNC_12703-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:12703"	"BEST1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12703"	"BEST1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15368"	"2021-09-14"
"GENCC_000110-HGNC_12703-Orphanet_3086-HP_0000006-GENCC_100009"	"HGNC:12703"	"BEST1"	"MONDO:0008662"	"autosomal dominant vitreoretinochoroidopathy"	"Orphanet:3086"	"Orphanet:3086"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12703"	"BEST1"	"Orphanet:3086"	"Autosomal dominant vitreoretinochoroidopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18611979[PMID]_21072067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15368"	"2021-09-14"
"GENCC_000110-HGNC_12703-Orphanet_1243-HP_0000006-GENCC_100009"	"HGNC:12703"	"BEST1"	"MONDO:0007931"	"vitelliform macular dystrophy 2"	"Orphanet:1243"	"Orphanet:1243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12703"	"BEST1"	"Orphanet:1243"	"Best vitelliform macular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301346[PMID]_16754206[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15368"	"2021-09-14"
"GENCC_000110-HGNC_12703-Orphanet_35612-HP_0000006-GENCC_100009"	"HGNC:12703"	"BEST1"	"MONDO:0005514"	"nanophthalmia"	"Orphanet:35612"	"Orphanet:35612"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12703"	"BEST1"	"Orphanet:35612"	"Nanophthalmos"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19375515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15368"	"2021-09-14"
"GENCC_000110-HGNC_12703-Orphanet_99000-HP_0000006-GENCC_100009"	"HGNC:12703"	"BEST1"	"MONDO:0011979"	"adult-onset foveomacular vitelliform dystrophy"	"Orphanet:99000"	"Orphanet:99000"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12703"	"BEST1"	"Orphanet:99000"	"Adult-onset foveomacular vitelliform dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10854112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15368"	"2021-09-14"
"GENCC_000110-HGNC_12703-Orphanet_139455-HP_0000007-GENCC_100009"	"HGNC:12703"	"BEST1"	"MONDO:0012733"	"autosomal recessive bestrophinopathy"	"Orphanet:139455"	"Orphanet:139455"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12703"	"BEST1"	"Orphanet:139455"	"Autosomal recessive bestrophinopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18179881[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15368"	"2021-09-14"
"GENCC_000110-HGNC_12703-Orphanet_263347-HP_0000006-GENCC_100009"	"HGNC:12703"	"BEST1"	"MONDO:0016979"	"MRCS syndrome"	"Orphanet:263347"	"Orphanet:263347"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12703"	"BEST1"	"Orphanet:263347"	"MRCS syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15452077[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15368"	"2021-09-14"
"GENCC_000110-HGNC_1041-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:1041"	"BFSP2"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1041"	"BFSP2"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24654948[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15369"	"2021-09-14"
"GENCC_000110-HGNC_1041-Orphanet_98985-HP_0000006-GENCC_100009"	"HGNC:1041"	"BFSP2"	"MONDO:0020372"	"early-onset sutural cataract"	"Orphanet:98985"	"Orphanet:98985"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1041"	"BFSP2"	"Orphanet:98985"	"Early-onset sutural cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17200662[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15369"	"2021-09-14"
"GENCC_000110-HGNC_1041-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:1041"	"BFSP2"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1041"	"BFSP2"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10729115[PMID]_18958306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15369"	"2021-09-14"
"GENCC_000110-HGNC_1076-Orphanet_157794-HP_0000006-GENCC_100009"	"HGNC:1076"	"BMPR1A"	"MONDO:0011023"	"hereditary mixed polyposis syndrome"	"Orphanet:157794"	"Orphanet:157794"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1076"	"BMPR1A"	"Orphanet:157794"	"Hereditary mixed polyposis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16525031[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15372"	"2021-09-14"
"GENCC_000110-HGNC_1076-Orphanet_329971-HP_0000006-GENCC_100009"	"HGNC:1076"	"BMPR1A"	"MONDO:0008276"	"generalized juvenile polyposis/juvenile polyposis coli"	"Orphanet:329971"	"Orphanet:329971"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1076"	"BMPR1A"	"Orphanet:329971"	"Generalized juvenile polyposis/juvenile polyposis coli"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18823382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15372"	"2021-09-14"
"GENCC_000110-HGNC_1077-Orphanet_2098-HP_0000007-GENCC_100009"	"HGNC:1077"	"BMPR1B"	"MONDO:0008703"	"acromesomelic dysplasia 2A"	"Orphanet:2098"	"Orphanet:2098"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1077"	"BMPR1B"	"Orphanet:2098"	"Acromesomelic dysplasia, Grebe type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24129431[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15373"	"2021-09-14"
"GENCC_000110-HGNC_1077-Orphanet_2639-HP_0000007-GENCC_100009"	"HGNC:1077"	"BMPR1B"	"MONDO:0009231"	"acromesomelic dysplasia 2B"	"Orphanet:2639"	"Orphanet:2639"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1077"	"BMPR1B"	"Orphanet:2639"	"Fibular aplasia-complex brachydactyly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26105076[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15373"	"2021-09-14"
"GENCC_000110-HGNC_1077-Orphanet_93388-HP_0000006-GENCC_100009"	"HGNC:1077"	"BMPR1B"	"MONDO:0007215"	"brachydactyly type A1"	"Orphanet:93388"	"Orphanet:93388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1077"	"BMPR1B"	"Orphanet:93388"	"Brachydactyly type A1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25758993[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15373"	"2021-09-14"
"GENCC_000110-HGNC_1077-Orphanet_93396-HP_0000006-GENCC_100009"	"HGNC:1077"	"BMPR1B"	"MONDO:0007216"	"brachydactyly type A2"	"Orphanet:93396"	"Orphanet:93396"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1077"	"BMPR1B"	"Orphanet:93396"	"Brachydactyly type A2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14523231[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15373"	"2021-09-14"
"GENCC_000110-HGNC_1078-Orphanet_275777-HP_0000006-GENCC_100009"	"HGNC:1078"	"BMPR2"	"MONDO:0017148"	"heritable pulmonary arterial hypertension"	"Orphanet:275777"	"Orphanet:275777"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1078"	"BMPR2"	"Orphanet:275777"	"Heritable pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19555857[PMID]_20301658[PMID]_24951767[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15374"	"2021-09-14"
"GENCC_000110-HGNC_1097-Orphanet_500-HP_0000006-GENCC_100009"	"HGNC:1097"	"BRAF"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"Orphanet:500"	"Orphanet:500"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1097"	"BRAF"	"Orphanet:500"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301557[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15376"	"2021-09-14"
"GENCC_000110-HGNC_1097-Orphanet_1340-HP_0000006-GENCC_100009"	"HGNC:1097"	"BRAF"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"Orphanet:1340"	"Orphanet:1340"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1097"	"BRAF"	"Orphanet:1340"	"Cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301365[PMID]_16825433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15376"	"2021-09-14"
"GENCC_000110-HGNC_1100-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:1100"	"BRCA1"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1100"	"BRCA1"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29133208[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15377"	"2021-09-14"
"GENCC_000110-HGNC_1100-Orphanet_145-HP_0000006-GENCC_100009"	"HGNC:1100"	"BRCA1"	"MONDO:0003582"	"hereditary breast ovarian cancer syndrome"	"Orphanet:145"	"Orphanet:145"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1100"	"BRCA1"	"Orphanet:145"	"Hereditary breast and ovarian cancer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16112002[PMID]_20301425[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15377"	"2021-09-14"
"GENCC_000110-HGNC_1101-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:1101"	"BRCA2"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1101"	"BRCA2"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15378"	"2021-09-14"
"GENCC_000110-HGNC_1101-Orphanet_145-HP_0000006-GENCC_100009"	"HGNC:1101"	"BRCA2"	"MONDO:0003582"	"hereditary breast ovarian cancer syndrome"	"Orphanet:145"	"Orphanet:145"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1101"	"BRCA2"	"Orphanet:145"	"Hereditary breast and ovarian cancer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16112002[PMID]_20301425[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15378"	"2021-09-14"
"GENCC_000110-HGNC_20473-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:20473"	"BRIP1"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20473"	"BRIP1"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15379"	"2021-09-14"
"GENCC_000110-HGNC_15832-Orphanet_528-HP_0000007-GENCC_100009"	"HGNC:15832"	"BSCL2"	"MONDO:0018883"	"Berardinelli-Seip congenital lipodystrophy"	"Orphanet:528"	"Orphanet:528"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15832"	"BSCL2"	"Orphanet:528"	"Congenital generalized lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301391[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15380"	"2021-09-14"
"GENCC_000110-HGNC_15832-Orphanet_100998-HP_0000006-GENCC_100009"	"HGNC:15832"	"BSCL2"	"MONDO:0010043"	"hereditary spastic paraplegia 17"	"Orphanet:100998"	"Orphanet:100998"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15832"	"BSCL2"	"Orphanet:100998"	"Autosomal dominant spastic paraplegia type 17"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14981520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15380"	"2021-09-14"
"GENCC_000110-HGNC_15832-Orphanet_139536-HP_0000006-GENCC_100009"	"HGNC:15832"	"BSCL2"	"MONDO:0015353"	"neuronopathy, distal hereditary motor, type 5A"	"Orphanet:139536"	"Orphanet:139536"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15832"	"BSCL2"	"Orphanet:139536"	"Distal hereditary motor neuropathy type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14981520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15380"	"2021-09-14"
"GENCC_000110-HGNC_15832-Orphanet_363400-HP_0000007-GENCC_100009"	"HGNC:15832"	"BSCL2"	"MONDO:0014402"	"severe neurodegenerative syndrome with lipodystrophy"	"Orphanet:363400"	"Orphanet:363400"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15832"	"BSCL2"	"Orphanet:363400"	"Severe neurodegenerative syndrome with lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23564749[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15380"	"2021-09-14"
"GENCC_000110-HGNC_16512-Orphanet_89938-HP_0000007-GENCC_100009"	"HGNC:16512"	"BSND"	"MONDO:0019524"	"Bartter syndrome type 4"	"Orphanet:89938"	"Orphanet:89938"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16512"	"BSND"	"Orphanet:89938"	"Infantile Bartter syndrome with sensorineural deafness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23110775[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15381"	"2021-09-14"
"GENCC_000110-HGNC_16512-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:16512"	"BSND"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16512"	"BSND"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15381"	"2021-09-14"
"GENCC_000110-HGNC_1122-Orphanet_79241-HP_0000007-GENCC_100009"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"biotinidase deficiency"	"Orphanet:79241"	"Orphanet:79241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1122"	"BTD"	"Orphanet:79241"	"Biotinidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301497[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15382"	"2021-09-14"
"GENCC_000110-HGNC_1133-Orphanet_47-HP_0001417-GENCC_100009"	"HGNC:1133"	"BTK"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"Orphanet:47"	"Orphanet:47"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:1133"	"BTK"	"Orphanet:47"	"X-linked agammaglobulinemia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15383"	"2021-09-14"
"GENCC_000110-HGNC_1133-Orphanet_632-HP_0001417-GENCC_100009"	"HGNC:1133"	"BTK"	"MONDO:0018967"	"short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"	"Orphanet:632"	"Orphanet:632"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:1133"	"BTK"	"Orphanet:632"	"Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8013627[PMID]_9554752[PMID]_22139958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15383"	"2021-09-14"
"GENCC_000110-HGNC_1149-Orphanet_1052-HP_0000006-GENCC_100009"	"HGNC:1149"	"BUB1B"	"MONDO:0000141"	"mosaic variegated aneuploidy syndrome"	"Orphanet:1052"	"Orphanet:1052"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1149"	"BUB1B"	"Orphanet:1052"	"Mosaic variegated aneuploidy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15475955[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15384"	"2021-09-14"
"GENCC_000110-HGNC_16002-Orphanet_33364-HP_0000007-GENCC_100009"	"HGNC:16002"	"MPLKIP"	"MONDO:0018053"	"trichothiodystrophy"	"Orphanet:33364"	"Orphanet:33364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16002"	"MPLKIP"	"Orphanet:33364"	"Trichothiodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15387"	"2021-09-14"
"GENCC_000110-HGNC_1373-Orphanet_2785-HP_0000007-GENCC_100009"	"HGNC:1373"	"CA2"	"MONDO:0009818"	"autosomal recessive osteopetrosis 3"	"Orphanet:2785"	"Orphanet:2785"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1373"	"CA2"	"Orphanet:2785"	"Osteopetrosis with renal tubular acidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15388"	"2021-09-14"
"GENCC_000110-HGNC_1375-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:1375"	"CA4"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1375"	"CA4"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15389"	"2021-09-14"
"GENCC_000110-HGNC_1386-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:1386"	"CABP4"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1386"	"CABP4"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16960802[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15390"	"2021-09-14"
"GENCC_000110-HGNC_1386-Orphanet_98784-HP_0000006-GENCC_100009"	"HGNC:1386"	"CABP4"	"MONDO:0020300"	"autosomal dominant nocturnal frontal lobe epilepsy"	"Orphanet:98784"	"Orphanet:98784"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1386"	"CABP4"	"Orphanet:98784"	"Autosomal dominant nocturnal frontal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29108277[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15390"	"2021-09-14"
"GENCC_000110-HGNC_1388-Orphanet_97-HP_0000006-GENCC_100009"	"HGNC:1388"	"CACNA1A"	"MONDO:0007163"	"episodic ataxia type 2"	"Orphanet:97"	"Orphanet:97"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1388"	"CACNA1A"	"Orphanet:97"	"Familial paroxysmal ataxia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301674[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15391"	"2021-09-14"
"GENCC_000110-HGNC_1388-Orphanet_2382-HP_0000006-GENCC_100009"	"HGNC:1388"	"CACNA1A"	"MONDO:0016532"	"Lennox-Gastaut syndrome"	"Orphanet:2382"	"Orphanet:2382"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1388"	"CACNA1A"	"Orphanet:2382"	"Lennox-Gastaut syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31468518[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15391"	"2021-09-14"
"GENCC_000110-HGNC_1388-Orphanet_569-HP_0000006-GENCC_100009"	"HGNC:1388"	"CACNA1A"	"MONDO:0018925"	"familial or sporadic hemiplegic migraine"	"Orphanet:569"	"Orphanet:569"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1388"	"CACNA1A"	"Orphanet:569"	"Familial or sporadic hemiplegic migraine"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301562[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15391"	"2021-09-14"
"GENCC_000110-HGNC_1388-Orphanet_71518-HP_0000006-GENCC_100009"	"HGNC:1388"	"CACNA1A"	"MONDO:0019113"	"benign paroxysmal torticollis of infancy"	"Orphanet:71518"	"Orphanet:71518"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1388"	"CACNA1A"	"Orphanet:71518"	"Benign paroxysmal torticollis of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12162387[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15391"	"2021-09-14"
"GENCC_000110-HGNC_1388-Orphanet_98758-HP_0000006-GENCC_100009"	"HGNC:1388"	"CACNA1A"	"MONDO:0008457"	"spinocerebellar ataxia type 6"	"Orphanet:98758"	"Orphanet:98758"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1388"	"CACNA1A"	"Orphanet:98758"	"Spinocerebellar ataxia type 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15391"	"2021-09-14"
"GENCC_000110-HGNC_1388-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:1388"	"CACNA1A"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1388"	"CACNA1A"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27476654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15391"	"2021-09-14"
"GENCC_000110-HGNC_1390-Orphanet_130-HP_0000006-GENCC_100009"	"HGNC:1390"	"CACNA1C"	"MONDO:0015263"	"Brugada syndrome"	"Orphanet:130"	"Orphanet:130"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1390"	"CACNA1C"	"Orphanet:130"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301690[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15392"	"2021-09-14"
"GENCC_000110-HGNC_1390-Orphanet_65283-HP_0000006-GENCC_100009"	"HGNC:1390"	"CACNA1C"	"MONDO:0010979"	"Timothy syndrome"	"Orphanet:65283"	"Orphanet:65283"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1390"	"CACNA1C"	"Orphanet:65283"	"Timothy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301577[PMID]_24093767[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15392"	"2021-09-14"
"GENCC_000110-HGNC_1393-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:1393"	"CACNA1F"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1393"	"CACNA1F"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15393"	"2021-09-14"
"GENCC_000110-HGNC_1393-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:1393"	"CACNA1F"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1393"	"CACNA1F"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16505158[PMID]_26992781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15393"	"2021-09-14"
"GENCC_000110-HGNC_1393-Orphanet_178333-HP_0001417-GENCC_100009"	"HGNC:1393"	"CACNA1F"	"MONDO:0010371"	"Aland island eye disease"	"Orphanet:178333"	"Orphanet:178333"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:1393"	"CACNA1F"	"Orphanet:178333"	"┼land Islands eye disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17525176[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15393"	"2021-09-14"
"GENCC_000110-HGNC_1397-Orphanet_681-HP_0000006-GENCC_100009"	"HGNC:1397"	"CACNA1S"	"MONDO:0008223"	"hypokalemic periodic paralysis"	"Orphanet:681"	"Orphanet:681"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1397"	"CACNA1S"	"Orphanet:681"	"Hypokalemic periodic paralysis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301512[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15394"	"2021-09-14"
"GENCC_000110-HGNC_1404-Orphanet_307-HP_0000006-GENCC_100009"	"HGNC:1404"	"CACNB4"	"MONDO:0009696"	"juvenile myoclonic epilepsy"	"Orphanet:307"	"Orphanet:307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1404"	"CACNB4"	"Orphanet:307"	"Juvenile myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23756480[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15396"	"2021-09-14"
"GENCC_000110-HGNC_1404-Orphanet_211067-HP_0000006-GENCC_100009"	"HGNC:1404"	"CACNB4"	"MONDO:0013464"	"episodic ataxia type 5"	"Orphanet:211067"	"Orphanet:211067"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1404"	"CACNB4"	"Orphanet:211067"	"Episodic ataxia type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10762541[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15396"	"2021-09-14"
"GENCC_000110-HGNC_1480-Orphanet_267-HP_0000007-GENCC_100009"	"HGNC:1480"	"CAPN3"	"MONDO:0009675"	"autosomal recessive limb-girdle muscular dystrophy type 2A"	"Orphanet:267"	"Orphanet:267"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1480"	"CAPN3"	"Orphanet:267"	"Calpain-3-related limb-girdle muscular dystrophy R1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15398"	"2021-09-14"
"GENCC_000110-HGNC_1500-Orphanet_3261-HP_0000006-GENCC_100009"	"HGNC:1500"	"CASP10"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"Orphanet:3261"	"Orphanet:3261"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1500"	"CASP10"	"Orphanet:3261"	"Autoimmune lymphoproliferative syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301287[PMID]_10412980[PMID]_17999750[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15399"	"2021-09-14"
"GENCC_000110-HGNC_1513-Orphanet_3286-HP_0000006-GENCC_100009"	"HGNC:1513"	"CASQ2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"Orphanet:3286"	"Orphanet:3286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1513"	"CASQ2"	"Orphanet:3286"	"Catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301466[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15400"	"2021-09-14"
"GENCC_000110-HGNC_1514-Orphanet_417-HP_0000007-GENCC_100009"	"HGNC:1514"	"CASR"	"MONDO:0009397"	"neonatal severe primary hyperparathyroidism"	"Orphanet:417"	"Orphanet:417"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1514"	"CASR"	"Orphanet:417"	"Neonatal severe primary hyperparathyroidism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15401"	"2021-09-14"
"GENCC_000110-HGNC_1514-Orphanet_428-HP_0000006-GENCC_100009"	"HGNC:1514"	"CASR"	"MONDO:0018543"	"autosomal dominant hypocalcemia"	"Orphanet:428"	"Orphanet:428"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1514"	"CASR"	"Orphanet:428"	"Autosomal dominant hypocalcemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9920108[PMID]_12733714[PMID]_22789683[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15401"	"2021-09-14"
"GENCC_000110-HGNC_1514-Orphanet_93372-HP_0000006-GENCC_100009"	"HGNC:1514"	"CASR"	"MONDO:0007791"	"familial hypocalciuric hypercalcemia 1"	"Orphanet:93372"	"Orphanet:93372"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1514"	"CASR"	"Orphanet:93372"	"Familial hypocalciuric hypercalcemia type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15401"	"2021-09-14"
"GENCC_000110-HGNC_1516-Orphanet_926-HP_0000007-GENCC_100009"	"HGNC:1516"	"CAT"	"MONDO:0013571"	"acatalasia"	"Orphanet:926"	"Orphanet:926"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1516"	"CAT"	"Orphanet:926"	"Acatalasemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11001624[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15402"	"2021-09-14"
"GENCC_000110-HGNC_1529-Orphanet_97238-HP_0000006-GENCC_100009"	"HGNC:1529"	"CAV3"	"MONDO:0020704"	"inherited rippling muscle disease"	"Orphanet:97238"	"Orphanet:97238"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1529"	"CAV3"	"Orphanet:97238"	"Rippling muscle disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12557291[PMID]_15668980[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15403"	"2021-09-14"
"GENCC_000110-HGNC_1529-Orphanet_488650-HP_0000006-GENCC_100009"	"HGNC:1529"	"CAV3"	"MONDO:0013686"	"distal myopathy, Tateyama type"	"Orphanet:488650"	"Orphanet:488650"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1529"	"CAV3"	"Orphanet:488650"	"Distal myopathy, Tateyama type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11805270[PMID]_18930476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15403"	"2021-09-14"
"GENCC_000110-HGNC_1550-Orphanet_394-HP_0000007-GENCC_100009"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"classic homocystinuria"	"Orphanet:394"	"Orphanet:394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1550"	"CBS"	"Orphanet:394"	"Classic homocystinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301697[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15404"	"2021-09-14"
"GENCC_000110-HGNC_30237-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:30237"	"CC2D1A"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30237"	"CC2D1A"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16033914[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15405"	"2021-09-14"
"GENCC_000110-HGNC_21708-Orphanet_221061-HP_0000006-GENCC_100009"	"HGNC:21708"	"CCM2"	"MONDO:0031037"	"famililal cerebral cavernous malformations"	"Orphanet:221061"	"Orphanet:221061"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21708"	"CCM2"	"Orphanet:221061"	"Familial cerebral cavernous malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301470[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15407"	"2021-09-14"
"GENCC_000110-HGNC_1618-Orphanet_139578-HP_0000007-GENCC_100009"	"HGNC:1618"	"CCT5"	"MONDO:0009748"	"hereditary sensory and autonomic neuropathy with spastic paraplegia"	"Orphanet:139578"	"Orphanet:139578"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1618"	"CCT5"	"Orphanet:139578"	"Mutilating hereditary sensory neuropathy with spastic paraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16399879[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15409"	"2021-09-14"
"GENCC_000110-HGNC_1633-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:1633"	"CD19"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1633"	"CD19"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15412"	"2021-09-14"
"GENCC_000110-HGNC_11935-Orphanet_101088-HP_0001417-GENCC_100009"	"HGNC:11935"	"CD40LG"	"MONDO:0010626"	"hyper-IgM syndrome type 1"	"Orphanet:101088"	"Orphanet:101088"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11935"	"CD40LG"	"Orphanet:101088"	"X-linked hyper-IgM syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15415"	"2021-09-14"
"GENCC_000110-HGNC_1713-Orphanet_98869-HP_0000007-GENCC_100009"	"HGNC:1713"	"CDAN1"	"MONDO:0020337"	"congenital dyserythropoietic anemia type 1"	"Orphanet:98869"	"Orphanet:98869"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1713"	"CDAN1"	"Orphanet:98869"	"Congenital dyserythropoietic anemia type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15417"	"2021-09-14"
"GENCC_000110-HGNC_16783-Orphanet_99879-HP_0000006-GENCC_100009"	"HGNC:16783"	"CDC73"	"MONDO:0015027"	"familial isolated hyperparathyroidism"	"Orphanet:99879"	"Orphanet:99879"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16783"	"CDC73"	"Orphanet:99879"	"Familial isolated hyperparathyroidism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301744[PMID]_15531515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15418"	"2021-09-14"
"GENCC_000110-HGNC_1748-Orphanet_1997-HP_0000006-GENCC_100009"	"HGNC:1748"	"CDH1"	"MONDO:0007339"	"blepharocheilodontic syndrome"	"Orphanet:1997"	"Orphanet:1997"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1748"	"CDH1"	"Orphanet:1997"	"Blepharo-cheilo-odontic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28301459[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15419"	"2021-09-14"
"GENCC_000110-HGNC_1748-Orphanet_26106-HP_0000006-GENCC_100009"	"HGNC:1748"	"CDH1"	"MONDO:0007648"	"hereditary diffuse gastric adenocarcinoma"	"Orphanet:26106"	"Orphanet:26106"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1748"	"CDH1"	"Orphanet:26106"	"Hereditary diffuse gastric cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19168852[PMID]_20301318[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15419"	"2021-09-14"
"GENCC_000110-HGNC_13733-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:13733"	"CDH23"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13733"	"CDH23"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15420"	"2021-09-14"
"GENCC_000110-HGNC_13733-Orphanet_231169-HP_0000007-GENCC_100009"	"HGNC:13733"	"CDH23"	"MONDO:0010168"	"Usher syndrome type 1"	"Orphanet:231169"	"Orphanet:231169"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13733"	"CDH23"	"Orphanet:231169"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15420"	"2021-09-14"
"GENCC_000110-HGNC_1762-Orphanet_1573-HP_0000007-GENCC_100009"	"HGNC:1762"	"CDH3"	"MONDO:0011107"	"congenital hypotrichosis with juvenile macular dystrophy"	"Orphanet:1573"	"Orphanet:1573"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1762"	"CDH3"	"Orphanet:1573"	"Hypotrichosis with juvenile macular degeneration"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11544476[PMID]_12445216[PMID]_22140374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15421"	"2021-09-14"
"GENCC_000110-HGNC_1762-Orphanet_1897-HP_0000007-GENCC_100009"	"HGNC:1762"	"CDH3"	"MONDO:0009155"	"EEM syndrome"	"Orphanet:1897"	"Orphanet:1897"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1762"	"CDH3"	"Orphanet:1897"	"EEM syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15805154[PMID]_22140374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15421"	"2021-09-14"
"GENCC_000110-HGNC_18672-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:18672"	"CDK5RAP2"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18672"	"CDK5RAP2"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15423"	"2021-09-14"
"GENCC_000110-HGNC_11411-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:11411"	"CDKL5"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11411"	"CDKL5"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22196487[PMID]_22787626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15424"	"2021-09-14"
"GENCC_000110-HGNC_11411-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:11411"	"CDKL5"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11411"	"CDKL5"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18564362[PMID]_22196487[PMID]_22787626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15424"	"2021-09-14"
"GENCC_000110-HGNC_11411-Orphanet_3095-HP_0000006-GENCC_100009"	"HGNC:11411"	"CDKL5"	"MONDO:0017746"	"atypical Rett syndrome"	"Orphanet:3095"	"Orphanet:3095"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11411"	"CDKL5"	"Orphanet:3095"	"Atypical Rett syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22196487[PMID]_22787626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15424"	"2021-09-14"
"GENCC_000110-HGNC_11411-Orphanet_505652-HP_0001417-GENCC_100009"	"HGNC:11411"	"CDKL5"	"MONDO:0010396"	"developmental and epileptic encephalopathy, 2"	"Orphanet:505652"	"Orphanet:505652"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11411"	"CDKL5"	"Orphanet:505652"	"CDKL5-deficiency disorder"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22872100[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15424"	"2021-09-14"
"GENCC_000110-HGNC_1786-Orphanet_85173-HP_0000006-GENCC_100009"	"HGNC:1786"	"CDKN1C"	"MONDO:0013873"	"IMAGe syndrome"	"Orphanet:85173"	"Orphanet:85173"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1786"	"CDKN1C"	"Orphanet:85173"	"IMAGe syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22634751[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15425"	"2021-09-14"
"GENCC_000110-HGNC_1786-Orphanet_231120-HP_0000006-GENCC_100009"	"HGNC:1786"	"CDKN1C"	"MONDO:0016476"	"Beckwith-Wiedemann syndrome due to CDKN1C mutation"	"Orphanet:231120"	"Orphanet:231120"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1786"	"CDKN1C"	"Orphanet:231120"	"Beckwith-Wiedemann syndrome due to CDKN1C mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26077438[PMID]_20803657[PMID]_20301568[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15425"	"2021-09-14"
"GENCC_000110-HGNC_1786-Orphanet_436144-HP_0000006-GENCC_100009"	"HGNC:1786"	"CDKN1C"	"MONDO:0018573"	"intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"	"Orphanet:436144"	"Orphanet:436144"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1786"	"CDKN1C"	"Orphanet:436144"	"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25057881[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15425"	"2021-09-14"
"GENCC_000110-HGNC_1787-Orphanet_404560-HP_0000006-GENCC_100009"	"HGNC:1787"	"CDKN2A"	"MONDO:0018453"	"familial atypical multiple mole melanoma syndrome"	"Orphanet:404560"	"Orphanet:404560"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1787"	"CDKN2A"	"Orphanet:404560"	"Familial atypical multiple mole melanoma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21249757[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15426"	"2021-09-14"
"GENCC_000110-HGNC_1802-Orphanet_90368-HP_0000006-GENCC_100009"	"HGNC:1802"	"CDSN"	"MONDO:0019575"	"hypotrichosis simplex of the scalp"	"Orphanet:90368"	"Orphanet:90368"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1802"	"CDSN"	"Orphanet:90368"	"Hypotrichosis simplex of the scalp"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12754508[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15428"	"2021-09-14"
"GENCC_000110-HGNC_1848-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:1848"	"CEL"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1848"	"CEL"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15431"	"2021-09-14"
"GENCC_000110-HGNC_17272-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:17272"	"CPAP"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17272"	"CENPJ"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15432"	"2021-09-14"
"GENCC_000110-HGNC_17272-Orphanet_808-HP_0000007-GENCC_100009"	"HGNC:17272"	"CPAP"	"MONDO:0019342"	"Seckel syndrome"	"Orphanet:808"	"Orphanet:808"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17272"	"CENPJ"	"Orphanet:808"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20522431[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15432"	"2021-09-14"
"GENCC_000110-HGNC_29021-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:29021"	"CEP290"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29021"	"CEP290"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21110233[PMID]_19466712[PMID]_17564974[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15433"	"2021-09-14"
"GENCC_000110-HGNC_29021-Orphanet_2318-HP_0000007-GENCC_100009"	"HGNC:29021"	"CEP290"	"MONDO:0009480"	"Joubert syndrome with oculorenal defect"	"Orphanet:2318"	"Orphanet:2318"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29021"	"CEP290"	"Orphanet:2318"	"Joubert syndrome with oculorenal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20615230[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15433"	"2021-09-14"
"GENCC_000110-HGNC_29021-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:29021"	"CEP290"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29021"	"CEP290"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22819833[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15433"	"2021-09-14"
"GENCC_000110-HGNC_29021-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:29021"	"CEP290"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29021"	"CEP290"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15433"	"2021-09-14"
"GENCC_000110-HGNC_29021-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:29021"	"CEP290"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29021"	"CEP290"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15433"	"2021-09-14"
"GENCC_000110-HGNC_21699-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:21699"	"CERKL"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21699"	"CERKL"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15434"	"2021-09-14"
"GENCC_000110-HGNC_1869-Orphanet_79506-HP_0000006-GENCC_100009"	"HGNC:1869"	"CETP"	"MONDO:0007744"	"cholesterol-ester transfer protein deficiency"	"Orphanet:79506"	"Orphanet:79506"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1869"	"CETP"	"Orphanet:79506"	"Cholesterol-ester transfer protein deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"2586614[PMID]_10998455[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15435"	"2021-09-14"
"GENCC_000110-HGNC_4883-Orphanet_75376-HP_0000006-GENCC_100009"	"HGNC:4883"	"CFH"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"Orphanet:75376"	"Orphanet:75376"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4883"	"CFH"	"Orphanet:75376"	"Familial drusen"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18252232[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15437"	"2021-09-14"
"GENCC_000110-HGNC_4883-Orphanet_93571-HP_0000007-GENCC_100009"	"HGNC:4883"	"CFH"	"MONDO:0019736"	"dense deposit disease"	"Orphanet:93571"	"Orphanet:93571"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4883"	"CFH"	"Orphanet:93571"	"Dense deposit disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22388616[PMID]_20301598[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15437"	"2021-09-14"
"GENCC_000110-HGNC_5394-Orphanet_75376-HP_0000006-GENCC_100009"	"HGNC:5394"	"CFI"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"Orphanet:75376"	"Orphanet:75376"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5394"	"CFI"	"Orphanet:75376"	"Familial drusen"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25986072[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15438"	"2021-09-14"
"GENCC_000110-HGNC_5394-Orphanet_200418-HP_0000007-GENCC_100009"	"HGNC:5394"	"CFI"	"MONDO:0012594"	"complement factor I deficiency"	"Orphanet:200418"	"Orphanet:200418"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5394"	"CFI"	"Orphanet:200418"	"Immunodeficiency with factor I anomaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15438"	"2021-09-14"
"GENCC_000110-HGNC_1875-Orphanet_171436-HP_0000006-GENCC_100009"	"HGNC:1875"	"CFL2"	"MONDO:0015737"	"typical nemaline myopathy"	"Orphanet:171436"	"Orphanet:171436"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1875"	"CFL2"	"Orphanet:171436"	"Typical nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17160903[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15439"	"2021-09-14"
"GENCC_000110-HGNC_8864-Orphanet_2966-HP_0001417-GENCC_100009"	"HGNC:8864"	"CFP"	"MONDO:0010713"	"properdin deficiency, X-linked"	"Orphanet:2966"	"Orphanet:2966"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8864"	"CFP"	"Orphanet:2966"	"Properdin deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8871668[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15440"	"2021-09-14"
"GENCC_000110-HGNC_1884-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:1884"	"CFTR"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1884"	"CFTR"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22214395[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15441"	"2021-09-14"
"GENCC_000110-HGNC_1884-Orphanet_48-HP_0000007-GENCC_100009"	"HGNC:1884"	"CFTR"	"MONDO:0018801"	"congenital bilateral absence of vas deferens"	"Orphanet:48"	"Orphanet:48"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1884"	"CFTR"	"Orphanet:48"	"Congenital bilateral absence of vas deferens"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7539342[PMID]_10651488[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15441"	"2021-09-14"
"GENCC_000110-HGNC_1912-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:1912"	"CHAT"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1912"	"CHAT"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15442"	"2021-09-14"
"GENCC_000110-HGNC_20626-Orphanet_138-HP_0000006-GENCC_100009"	"HGNC:20626"	"CHD7"	"MONDO:0008965"	"CHARGE syndrome"	"Orphanet:138"	"Orphanet:138"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20626"	"CHD7"	"Orphanet:138"	"CHARGE syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301296[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15443"	"2021-09-14"
"GENCC_000110-HGNC_20626-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:20626"	"CHD7"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20626"	"CHD7"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18834967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15443"	"2021-09-14"
"GENCC_000110-HGNC_20626-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:20626"	"CHD7"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20626"	"CHD7"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18834967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15443"	"2021-09-14"
"GENCC_000110-HGNC_20626-Orphanet_39041-HP_0000007-GENCC_100009"	"HGNC:20626"	"CHD7"	"MONDO:0011338"	"Omenn syndrome"	"Orphanet:39041"	"Orphanet:39041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20626"	"CHD7"	"Orphanet:39041"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15443"	"2021-09-14"
"GENCC_000110-HGNC_1940-Orphanet_180-HP_0001417-GENCC_100009"	"HGNC:1940"	"CHM"	"MONDO:0010557"	"choroideremia"	"Orphanet:180"	"Orphanet:180"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:1940"	"CHM"	"Orphanet:180"	"Choroideremia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15445"	"2021-09-14"
"GENCC_000110-HGNC_24537-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:24537"	"CHMP2B"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24537"	"CHMP2B"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20352044[PMID]_23155438[PMID]_16807408[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15446"	"2021-09-14"
"GENCC_000110-HGNC_1955-Orphanet_33108-HP_0000007-GENCC_100009"	"HGNC:1955"	"CHRNA1"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"Orphanet:33108"	"Orphanet:33108"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1955"	"CHRNA1"	"Orphanet:33108"	"Lethal multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18252226[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15447"	"2021-09-14"
"GENCC_000110-HGNC_1955-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:1955"	"CHRNA1"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1955"	"CHRNA1"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15447"	"2021-09-14"
"GENCC_000110-HGNC_1958-Orphanet_98784-HP_0000006-GENCC_100009"	"HGNC:1958"	"CHRNA4"	"MONDO:0020300"	"autosomal dominant nocturnal frontal lobe epilepsy"	"Orphanet:98784"	"Orphanet:98784"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1958"	"CHRNA4"	"Orphanet:98784"	"Autosomal dominant nocturnal frontal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7550350[PMID]_20301348[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15448"	"2021-09-14"
"GENCC_000110-HGNC_1961-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:1961"	"CHRNB1"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1961"	"CHRNB1"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15449"	"2021-09-14"
"GENCC_000110-HGNC_1965-Orphanet_33108-HP_0000007-GENCC_100009"	"HGNC:1965"	"CHRND"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"Orphanet:33108"	"Orphanet:33108"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1965"	"CHRND"	"Orphanet:33108"	"Lethal multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18252226[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15450"	"2021-09-14"
"GENCC_000110-HGNC_1965-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:1965"	"CHRND"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1965"	"CHRND"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15450"	"2021-09-14"
"GENCC_000110-HGNC_1966-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:1966"	"CHRNE"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1966"	"CHRNE"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15451"	"2021-09-14"
"GENCC_000110-HGNC_1967-Orphanet_2990-HP_0000007-GENCC_100009"	"HGNC:1967"	"CHRNG"	"MONDO:0009926"	"autosomal recessive multiple pterygium syndrome"	"Orphanet:2990"	"Orphanet:2990"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1967"	"CHRNG"	"Orphanet:2990"	"Autosomal recessive multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22167768[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15452"	"2021-09-14"
"GENCC_000110-HGNC_1967-Orphanet_33108-HP_0000007-GENCC_100009"	"HGNC:1967"	"CHRNG"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"Orphanet:33108"	"Orphanet:33108"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1967"	"CHRNG"	"Orphanet:33108"	"Lethal multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16826531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15452"	"2021-09-14"
"GENCC_000110-HGNC_1971-Orphanet_263463-HP_0000007-GENCC_100009"	"HGNC:1971"	"CHST3"	"MONDO:0007738"	"spondyloepiphyseal dysplasia with congenital joint dislocations"	"Orphanet:263463"	"Orphanet:263463"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1971"	"CHST3"	"Orphanet:263463"	"CHST3-related skeletal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20830804[PMID]_21882400[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15453"	"2021-09-14"
"GENCC_000110-HGNC_6938-Orphanet_98969-HP_0000007-GENCC_100009"	"HGNC:6938"	"CHST6"	"MONDO:0009020"	"macular corneal dystrophy"	"Orphanet:98969"	"Orphanet:98969"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6938"	"CHST6"	"Orphanet:98969"	"Macular corneal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11017086[PMID]_19365571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15454"	"2021-09-14"
"GENCC_000110-HGNC_7067-Orphanet_572-HP_0000007-GENCC_100009"	"HGNC:7067"	"CIITA"	"MONDO:0008855"	"MHC class II deficiency"	"Orphanet:572"	"Orphanet:572"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7067"	"CIITA"	"Orphanet:572"	"Immunodeficiency by defective expression of MHC class II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15456"	"2021-09-14"
"GENCC_000110-HGNC_2019-Orphanet_614-HP_0000006-GENCC_100009"	"HGNC:2019"	"CLCN1"	"MONDO:0009710"	"Thomsen and Becker disease"	"Orphanet:614"	"Orphanet:614"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2019"	"CLCN1"	"Orphanet:614"	"Thomsen and Becker disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301529[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15457"	"2021-09-14"
"GENCC_000110-HGNC_2023-Orphanet_93622-HP_0001417-GENCC_100009"	"HGNC:2023"	"CLCN5"	"MONDO:0010225"	"Dent disease type 1"	"Orphanet:93622"	"Orphanet:93622"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2023"	"CLCN5"	"Orphanet:93622"	"Dent disease type 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876375[PMID]_21305656[PMID]_18540256[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15459"	"2021-09-14"
"GENCC_000110-HGNC_2025-Orphanet_53-HP_0000006-GENCC_100009"	"HGNC:2025"	"CLCN7"	"MONDO:0008156"	"autosomal dominant osteopetrosis 2"	"Orphanet:53"	"Orphanet:53"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2025"	"CLCN7"	"Orphanet:53"	"Albers-Sch÷nberg osteopetrosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11741829[PMID]_20301306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15460"	"2021-09-14"
"GENCC_000110-HGNC_2025-Orphanet_667-HP_0000007-GENCC_100009"	"HGNC:2025"	"CLCN7"	"MONDO:0019026"	"autosomal recessive osteopetrosis"	"Orphanet:667"	"Orphanet:667"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2025"	"CLCN7"	"Orphanet:667"	"Autosomal recessive malignant osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22419446[PMID]_20424301[PMID]_20301306[PMID]_23877423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15460"	"2021-09-14"
"GENCC_000110-HGNC_2025-Orphanet_210110-HP_0000007-GENCC_100009"	"HGNC:2025"	"CLCN7"	"MONDO:0012679"	"autosomal recessive osteopetrosis 6"	"Orphanet:210110"	"Orphanet:210110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2025"	"CLCN7"	"Orphanet:210110"	"Intermediate osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12522560[PMID]_20301306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15460"	"2021-09-14"
"GENCC_000110-HGNC_2027-Orphanet_358-HP_0000007-GENCC_100009"	"HGNC:2027"	"CLCNKB"	"MONDO:0009904"	"Gitelman syndrome"	"Orphanet:358"	"Orphanet:358"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2027"	"CLCNKB"	"Orphanet:358"	"Gitelman syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20931281[PMID]_19265611[PMID]_18667063[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15461"	"2021-09-14"
"GENCC_000110-HGNC_2027-Orphanet_89938-HP_0000007-GENCC_100009"	"HGNC:2027"	"CLCNKB"	"MONDO:0019524"	"Bartter syndrome type 4"	"Orphanet:89938"	"Orphanet:89938"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2027"	"CLCNKB"	"Orphanet:89938"	"Infantile Bartter syndrome with sensorineural deafness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18310267[PMID]_18776122[PMID]_12920401[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15461"	"2021-09-14"
"GENCC_000110-HGNC_2027-Orphanet_93605-HP_0000007-GENCC_100009"	"HGNC:2027"	"CLCNKB"	"MONDO:0011822"	"Bartter disease type 3"	"Orphanet:93605"	"Orphanet:93605"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2027"	"CLCNKB"	"Orphanet:93605"	"Classic Bartter syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24058621[PMID]_17622951[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15461"	"2021-09-14"
"GENCC_000110-HGNC_2032-Orphanet_59303-HP_0000007-GENCC_100009"	"HGNC:2032"	"CLDN1"	"MONDO:0011874"	"neonatal ichthyosis-sclerosing cholangitis syndrome"	"Orphanet:59303"	"Orphanet:59303"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2032"	"CLDN1"	"Orphanet:59303"	"Neonatal ichthyosis-sclerosing cholangitis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15521008[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15462"	"2021-09-14"
"GENCC_000110-HGNC_17129-Orphanet_37-HP_0000007-GENCC_100009"	"HGNC:17129"	"SLC39A4"	"MONDO:0008713"	"acrodermatitis enteropathica"	"Orphanet:37"	"Orphanet:37"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17129"	"SLC39A4"	"Orphanet:37"	"Acrodermatitis enteropathica"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22166942[PMID]_22082465[PMID]_12787121[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15464"	"2021-09-14"
"GENCC_000110-HGNC_10909-Orphanet_139491-HP_0000006-GENCC_100009"	"HGNC:10909"	"SLC40A1"	"MONDO:0011631"	"hemochromatosis type 4"	"Orphanet:139491"	"Orphanet:139491"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10909"	"SLC40A1"	"Orphanet:139491"	"Hemochromatosis type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24714983[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15465"	"2021-09-14"
"GENCC_000110-HGNC_225-Orphanet_51-HP_0000006-GENCC_100009"	"HGNC:225"	"ADAR"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"Orphanet:51"	"Orphanet:51"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:225"	"ADAR"	"Orphanet:51"	"Aicardi-GoutiÞres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301648[PMID]_23001123[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15467"	"2021-09-14"
"GENCC_000110-HGNC_225-Orphanet_41-HP_0000006-GENCC_100009"	"HGNC:225"	"ADAR"	"MONDO:0007483"	"dyschromatosis symmetrica hereditaria"	"Orphanet:41"	"Orphanet:41"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:225"	"ADAR"	"Orphanet:41"	"Dyschromatosis symmetrica hereditaria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12916015[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15467"	"2021-09-14"
"GENCC_000110-HGNC_225-Orphanet_225154-HP_0000006-GENCC_100009"	"HGNC:225"	"ADAR"	"MONDO:0010080"	"familial infantile bilateral striatal necrosis"	"Orphanet:225154"	"Orphanet:225154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:225"	"ADAR"	"Orphanet:225154"	"Familial infantile bilateral striatal necrosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24262145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15467"	"2021-09-14"
"GENCC_000110-HGNC_291-Orphanet_46-HP_0000007-GENCC_100009"	"HGNC:291"	"ADSL"	"MONDO:0007068"	"adenylosuccinate lyase deficiency"	"Orphanet:46"	"Orphanet:46"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:291"	"ADSL"	"Orphanet:46"	"Adenylosuccinate lyase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18524658[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15468"	"2021-09-14"
"GENCC_000110-HGNC_3776-Orphanet_100973-HP_0001417-GENCC_100009"	"HGNC:3776"	"AFF2"	"MONDO:0010659"	"FRAXE intellectual disability"	"Orphanet:100973"	"Orphanet:100973"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3776"	"AFF2"	"Orphanet:100973"	"FRAXE intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21739600[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15469"	"2021-09-14"
"GENCC_000110-HGNC_318-Orphanet_93-HP_0000007-GENCC_100009"	"HGNC:318"	"AGA"	"MONDO:0008830"	"aspartylglucosaminuria"	"Orphanet:93"	"Orphanet:93"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:318"	"AGA"	"Orphanet:93"	"Aspartylglucosaminuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11309371[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15470"	"2021-09-14"
"GENCC_000110-HGNC_321-Orphanet_366-HP_0000007-GENCC_100009"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"Orphanet:366"	"Orphanet:366"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:321"	"AGL"	"Orphanet:366"	"Glycogen storage disease due to glycogen debranching enzyme deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10571954[PMID]_17908927[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15472"	"2021-09-14"
"GENCC_000110-HGNC_325-Orphanet_528-HP_0000007-GENCC_100009"	"HGNC:325"	"AGPAT2"	"MONDO:0018883"	"Berardinelli-Seip congenital lipodystrophy"	"Orphanet:528"	"Orphanet:528"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:325"	"AGPAT2"	"Orphanet:528"	"Congenital generalized lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301391[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15473"	"2021-09-14"
"GENCC_000110-HGNC_333-Orphanet_97369-HP_0000007-GENCC_100009"	"HGNC:333"	"AGT"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"Orphanet:97369"	"Orphanet:97369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:333"	"AGT"	"Orphanet:97369"	"Renal tubular dysgenesis of genetic origin"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16116425[PMID]_22095942[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15475"	"2021-09-14"
"GENCC_000110-HGNC_341-Orphanet_93598-HP_0000007-GENCC_100009"	"HGNC:341"	"AGXT"	"MONDO:0009823"	"primary hyperoxaluria type 1"	"Orphanet:93598"	"Orphanet:93598"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:341"	"AGXT"	"Orphanet:93598"	"Primary hyperoxaluria type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15476"	"2021-09-14"
"GENCC_000110-HGNC_343-Orphanet_88618-HP_0000007-GENCC_100009"	"HGNC:343"	"AHCY"	"MONDO:0013404"	"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"	"Orphanet:88618"	"Orphanet:88618"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:343"	"AHCY"	"Orphanet:88618"	"S-adenosylhomocysteine hydrolase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16435181[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15477"	"2021-09-14"
"GENCC_000110-HGNC_21575-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:21575"	"AHI1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21575"	"AHI1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28442540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15478"	"2021-09-14"
"GENCC_000110-HGNC_21575-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:21575"	"AHI1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21575"	"AHI1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22693042[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15478"	"2021-09-14"
"GENCC_000110-HGNC_21575-Orphanet_220493-HP_0000007-GENCC_100009"	"HGNC:21575"	"AHI1"	"MONDO:0016364"	"Joubert syndrome with ocular defect"	"Orphanet:220493"	"Orphanet:220493"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21575"	"AHI1"	"Orphanet:220493"	"Joubert syndrome with ocular defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20615230[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15478"	"2021-09-14"
"GENCC_000110-HGNC_359-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:359"	"AIPL1"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:359"	"AIPL1"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15480"	"2021-09-14"
"GENCC_000110-HGNC_360-Orphanet_3453-HP_0000007-GENCC_100009"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"Orphanet:3453"	"Orphanet:3453"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:360"	"AIRE"	"Orphanet:3453"	"Autoimmune polyendocrinopathy type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22460196[PMID]_23342054[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15481"	"2021-09-14"
"GENCC_000110-HGNC_360-Orphanet_189466-HP_0000006-GENCC_100009"	"HGNC:360"	"AIRE"	"MONDO:0016000"	"familial isolated hypoparathyroidism due to impaired PTH secretion"	"Orphanet:189466"	"Orphanet:189466"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:360"	"AIRE"	"Orphanet:189466"	"Familial isolated hypoparathyroidism due to impaired PTH secretion"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28323927[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15481"	"2021-09-14"
"GENCC_000110-HGNC_361-Orphanet_86817-HP_0000007-GENCC_100009"	"HGNC:361"	"AK1"	"MONDO:0012967"	"hemolytic anemia due to adenylate kinase deficiency"	"Orphanet:86817"	"Orphanet:86817"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:361"	"AK1"	"Orphanet:86817"	"Hemolytic anemia due to adenylate kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9432020[PMID]_10233365[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15482"	"2021-09-14"
"GENCC_000110-HGNC_395-Orphanet_100924-HP_0000007-GENCC_100009"	"HGNC:395"	"ALAD"	"MONDO:0013000"	"porphyria due to ALA dehydratase deficiency"	"Orphanet:100924"	"Orphanet:100924"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:395"	"ALAD"	"Orphanet:100924"	"Porphyria due to ALA dehydratase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"2063868[PMID]_16343966[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15483"	"2021-09-14"
"GENCC_000110-HGNC_397-Orphanet_75563-HP_0001417-GENCC_100009"	"HGNC:397"	"ALAS2"	"MONDO:0020721"	"X-linked sideroblastic anemia 1"	"Orphanet:75563"	"Orphanet:75563"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:397"	"ALAS2"	"Orphanet:75563"	"X-linked sideroblastic anemia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21309041[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15484"	"2021-09-14"
"GENCC_000110-HGNC_397-Orphanet_443197-HP_0001417-GENCC_100009"	"HGNC:397"	"ALAS2"	"MONDO:0010420"	"X-linked erythropoietic protoporphyria"	"Orphanet:443197"	"Orphanet:443197"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:397"	"ALAS2"	"Orphanet:443197"	"X-linked erythropoietic protoporphyria"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23409301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15484"	"2021-09-14"
"GENCC_000110-HGNC_399-Orphanet_86816-HP_0000007-GENCC_100009"	"HGNC:399"	"ALB"	"MONDO:0014449"	"congenital analbuminemia"	"Orphanet:86816"	"Orphanet:86816"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:399"	"ALB"	"Orphanet:86816"	"Congenital analbuminemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7937781[PMID]_15996651[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15485"	"2021-09-14"
"GENCC_000110-HGNC_9722-Orphanet_35664-HP_0000007-GENCC_100009"	"HGNC:9722"	"ALDH18A1"	"MONDO:0009053"	"ALDH18A1-related de Barsy syndrome"	"Orphanet:35664"	"Orphanet:35664"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9722"	"ALDH18A1"	"Orphanet:35664"	"ALDH18A1-related De Barsy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21739576[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15486"	"2021-09-14"
"GENCC_000110-HGNC_9722-Orphanet_90348-HP_0000006-GENCC_100009"	"HGNC:9722"	"ALDH18A1"	"MONDO:0019571"	"autosomal dominant cutis laxa"	"Orphanet:90348"	"Orphanet:90348"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9722"	"ALDH18A1"	"Orphanet:90348"	"Autosomal dominant cutis laxa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26320891[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15486"	"2021-09-14"
"GENCC_000110-HGNC_9722-Orphanet_447753-HP_0000006-GENCC_100009"	"HGNC:9722"	"ALDH18A1"	"MONDO:0011006"	"hereditary spastic paraplegia 9A"	"Orphanet:447753"	"Orphanet:447753"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9722"	"ALDH18A1"	"Orphanet:447753"	"Autosomal dominant spastic paraplegia type 9A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26026163[PMID]_26297558[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15486"	"2021-09-14"
"GENCC_000110-HGNC_9722-Orphanet_447757-HP_0000006-GENCC_100009"	"HGNC:9722"	"ALDH18A1"	"MONDO:0018644"	"autosomal dominant complex spastic paraplegia type 9B"	"Orphanet:447757"	"Orphanet:447757"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9722"	"ALDH18A1"	"Orphanet:447757"	"Autosomal dominant spastic paraplegia type 9B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26026163[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15486"	"2021-09-14"
"GENCC_000110-HGNC_9722-Orphanet_447760-HP_0000007-GENCC_100009"	"HGNC:9722"	"ALDH18A1"	"MONDO:0014702"	"autosomal recessive complex spastic paraplegia type 9B"	"Orphanet:447760"	"Orphanet:447760"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9722"	"ALDH18A1"	"Orphanet:447760"	"Autosomal recessive spastic paraplegia type 9B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26026163[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15486"	"2021-09-14"
"GENCC_000110-HGNC_403-Orphanet_816-HP_0000007-GENCC_100009"	"HGNC:403"	"ALDH3A2"	"MONDO:0010031"	"Sjogren-Larsson syndrome"	"Orphanet:816"	"Orphanet:816"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:403"	"ALDH3A2"	"Orphanet:816"	"Sj÷gren-Larsson syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15487"	"2021-09-14"
"GENCC_000110-HGNC_406-Orphanet_79101-HP_0000007-GENCC_100009"	"HGNC:406"	"ALDH4A1"	"MONDO:0009401"	"hyperprolinemia type 2"	"Orphanet:79101"	"Orphanet:79101"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:406"	"ALDH4A1"	"Orphanet:79101"	"Hyperprolinemia type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9700195[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15488"	"2021-09-14"
"GENCC_000110-HGNC_408-Orphanet_22-HP_0000007-GENCC_100009"	"HGNC:408"	"ALDH5A1"	"MONDO:0010083"	"succinic semialdehyde dehydrogenase deficiency"	"Orphanet:22"	"Orphanet:22"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:408"	"ALDH5A1"	"Orphanet:22"	"Succinic semialdehyde dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15489"	"2021-09-14"
"GENCC_000110-HGNC_877-Orphanet_3006-HP_0000007-GENCC_100009"	"HGNC:877"	"ALDH7A1"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"Orphanet:3006"	"Orphanet:3006"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:877"	"ALDH7A1"	"Orphanet:3006"	"Pyridoxine-dependent epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15490"	"2021-09-14"
"GENCC_000110-HGNC_414-Orphanet_57-HP_0000007-GENCC_100009"	"HGNC:414"	"ALDOA"	"MONDO:0012747"	"glycogen storage disease due to aldolase A deficiency"	"Orphanet:57"	"Orphanet:57"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:414"	"ALDOA"	"Orphanet:57"	"Glycogen storage disease due to aldolase A deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15491"	"2021-09-14"
"GENCC_000110-HGNC_417-Orphanet_469-HP_0000007-GENCC_100009"	"HGNC:417"	"ALDOB"	"MONDO:0009249"	"hereditary fructose intolerance"	"Orphanet:469"	"Orphanet:469"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:417"	"ALDOB"	"Orphanet:469"	"Hereditary fructose intolerance"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20848650[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15492"	"2021-09-14"
"GENCC_000110-HGNC_18294-Orphanet_79327-HP_0000007-GENCC_100009"	"HGNC:18294"	"ALG1"	"MONDO:0012052"	"ALG1-congenital disorder of glycosylation"	"Orphanet:79327"	"Orphanet:79327"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18294"	"ALG1"	"Orphanet:79327"	"ALG1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15493"	"2021-09-14"
"GENCC_000110-HGNC_19358-Orphanet_79324-HP_0000007-GENCC_100009"	"HGNC:19358"	"ALG12"	"MONDO:0011783"	"ALG12-congenital disorder of glycosylation"	"Orphanet:79324"	"Orphanet:79324"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19358"	"ALG12"	"Orphanet:79324"	"ALG12-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15495"	"2021-09-14"
"GENCC_000110-HGNC_23159-Orphanet_79326-HP_0000007-GENCC_100009"	"HGNC:23159"	"ALG2"	"MONDO:0011933"	"ALG2-congenital disorder of glycosylation"	"Orphanet:79326"	"Orphanet:79326"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23159"	"ALG2"	"Orphanet:79326"	"ALG2-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15496"	"2021-09-14"
"GENCC_000110-HGNC_23159-Orphanet_353327-HP_0000007-GENCC_100009"	"HGNC:23159"	"ALG2"	"MONDO:0018144"	"congenital myasthenic syndromes with glycosylation defect"	"Orphanet:353327"	"Orphanet:353327"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23159"	"ALG2"	"Orphanet:353327"	"Congenital myasthenic syndromes with glycosylation defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23404334[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15496"	"2021-09-14"
"GENCC_000110-HGNC_23056-Orphanet_79321-HP_0000007-GENCC_100009"	"HGNC:23056"	"ALG3"	"MONDO:0010998"	"ALG3-congenital disorder of glycosylation"	"Orphanet:79321"	"Orphanet:79321"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23056"	"ALG3"	"Orphanet:79321"	"ALG3-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15497"	"2021-09-14"
"GENCC_000110-HGNC_23157-Orphanet_79320-HP_0000007-GENCC_100009"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"Orphanet:79320"	"Orphanet:79320"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23157"	"ALG6"	"Orphanet:79320"	"ALG6-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15498"	"2021-09-14"
"GENCC_000110-HGNC_23161-Orphanet_79325-HP_0000007-GENCC_100009"	"HGNC:23161"	"ALG8"	"MONDO:0011969"	"ALG8-congenital disorder of glycosylation"	"Orphanet:79325"	"Orphanet:79325"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23161"	"ALG8"	"Orphanet:79325"	"ALG8-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15499"	"2021-09-14"
"GENCC_000110-HGNC_15672-Orphanet_730-HP_0000006-GENCC_100009"	"HGNC:15672"	"ALG9"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"Orphanet:730"	"Orphanet:730"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15672"	"ALG9"	"Orphanet:730"	"Autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31395617[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15500"	"2021-09-14"
"GENCC_000110-HGNC_15672-Orphanet_79328-HP_0000007-GENCC_100009"	"HGNC:15672"	"ALG9"	"MONDO:0012117"	"ALG9-congenital disorder of glycosylation"	"Orphanet:79328"	"Orphanet:79328"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15672"	"ALG9"	"Orphanet:79328"	"ALG9-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15500"	"2021-09-14"
"GENCC_000110-HGNC_428-Orphanet_64-HP_0000007-GENCC_100009"	"HGNC:428"	"ALMS1"	"MONDO:0008763"	"Alstrom syndrome"	"Orphanet:64"	"Orphanet:64"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:428"	"ALMS1"	"Orphanet:64"	"Alstr÷m syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301444[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15501"	"2021-09-14"
"GENCC_000110-HGNC_430-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:430"	"ALOX12B"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:430"	"ALOX12B"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22739337[PMID]_20301593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15502"	"2021-09-14"
"GENCC_000110-HGNC_430-Orphanet_79394-HP_0000007-GENCC_100009"	"HGNC:430"	"ALOX12B"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"Orphanet:79394"	"Orphanet:79394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:430"	"ALOX12B"	"Orphanet:79394"	"Congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16792775[PMID]_18347291[PMID]_12780701[PMID]_20301593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15502"	"2021-09-14"
"GENCC_000110-HGNC_430-Orphanet_281122-HP_0000007-GENCC_100009"	"HGNC:430"	"ALOX12B"	"MONDO:0017267"	"self-healing collodion baby"	"Orphanet:281122"	"Orphanet:281122"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:430"	"ALOX12B"	"Orphanet:281122"	"Self-improving collodion baby"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19890349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15502"	"2021-09-14"
"GENCC_000110-HGNC_13743-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:13743"	"ALOXE3"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13743"	"ALOXE3"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25423909[PMID]_21668430[PMID]_19131948[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15503"	"2021-09-14"
"GENCC_000110-HGNC_13743-Orphanet_79394-HP_0000007-GENCC_100009"	"HGNC:13743"	"ALOXE3"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"Orphanet:79394"	"Orphanet:79394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13743"	"ALOXE3"	"Orphanet:79394"	"Congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12780701[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15503"	"2021-09-14"
"GENCC_000110-HGNC_13743-Orphanet_281122-HP_0000007-GENCC_100009"	"HGNC:13743"	"ALOXE3"	"MONDO:0017267"	"self-healing collodion baby"	"Orphanet:281122"	"Orphanet:281122"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13743"	"ALOXE3"	"Orphanet:281122"	"Self-improving collodion baby"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19890349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15503"	"2021-09-14"
"GENCC_000110-HGNC_438-Orphanet_247623-HP_0000007-GENCC_100009"	"HGNC:438"	"ALPL"	"MONDO:0016605"	"perinatal lethal hypophosphatasia"	"Orphanet:247623"	"Orphanet:247623"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:438"	"ALPL"	"Orphanet:247623"	"Perinatal lethal hypophosphatasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10737975[PMID]_17916236[PMID]_20301329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15504"	"2021-09-14"
"GENCC_000110-HGNC_438-Orphanet_247651-HP_0000007-GENCC_100009"	"HGNC:438"	"ALPL"	"MONDO:0009427"	"infantile hypophosphatasia"	"Orphanet:247651"	"Orphanet:247651"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:438"	"ALPL"	"Orphanet:247651"	"Infantile hypophosphatasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10737975[PMID]_17916236[PMID]_20301329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15504"	"2021-09-14"
"GENCC_000110-HGNC_438-Orphanet_247667-HP_0000006-GENCC_100009"	"HGNC:438"	"ALPL"	"MONDO:0009428"	"childhood hypophosphatasia"	"Orphanet:247667"	"Orphanet:247667"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:438"	"ALPL"	"Orphanet:247667"	"Childhood-onset hypophosphatasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10737975[PMID]_17916236[PMID]_20301329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15504"	"2021-09-14"
"GENCC_000110-HGNC_438-Orphanet_247676-HP_0000006-GENCC_100009"	"HGNC:438"	"ALPL"	"MONDO:0007798"	"adult hypophosphatasia"	"Orphanet:247676"	"Orphanet:247676"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:438"	"ALPL"	"Orphanet:247676"	"Adult hypophosphatasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10737975[PMID]_17916236[PMID]_20301329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15504"	"2021-09-14"
"GENCC_000110-HGNC_438-Orphanet_247685-HP_0000006-GENCC_100009"	"HGNC:438"	"ALPL"	"MONDO:0016607"	"odontohypophosphatasia"	"Orphanet:247685"	"Orphanet:247685"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:438"	"ALPL"	"Orphanet:247685"	"Odontohypophosphatasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10737975[PMID]_17916236[PMID]_20301329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15504"	"2021-09-14"
"GENCC_000110-HGNC_443-Orphanet_247604-HP_0000007-GENCC_100009"	"HGNC:443"	"ALS2"	"MONDO:0011663"	"juvenile primary lateral sclerosis"	"Orphanet:247604"	"Orphanet:247604"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:443"	"ALS2"	"Orphanet:247604"	"Juvenile primary lateral sclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19122027[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15505"	"2021-09-14"
"GENCC_000110-HGNC_443-Orphanet_293168-HP_0000007-GENCC_100009"	"HGNC:443"	"ALS2"	"MONDO:0011797"	"infantile-onset ascending hereditary spastic paralysis"	"Orphanet:293168"	"Orphanet:293168"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:443"	"ALS2"	"Orphanet:293168"	"Infantile-onset ascending hereditary spastic paralysis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24315819[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15505"	"2021-09-14"
"GENCC_000110-HGNC_443-Orphanet_300605-HP_0000007-GENCC_100009"	"HGNC:443"	"ALS2"	"MONDO:0017593"	"juvenile amyotrophic lateral sclerosis"	"Orphanet:300605"	"Orphanet:300605"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:443"	"ALS2"	"Orphanet:300605"	"Juvenile amyotrophic lateral sclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23282280[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15505"	"2021-09-14"
"GENCC_000110-HGNC_450-Orphanet_60015-HP_0000006-GENCC_100009"	"HGNC:450"	"ALX4"	"MONDO:0018953"	"parietal foramina"	"Orphanet:60015"	"Orphanet:60015"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:450"	"ALX4"	"Orphanet:60015"	"Enlarged parietal foramina"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16319823[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15506"	"2021-09-14"
"GENCC_000110-HGNC_450-Orphanet_228390-HP_0000007-GENCC_100009"	"HGNC:450"	"ALX4"	"MONDO:0013268"	"frontonasal dysplasia with alopecia and genital anomaly"	"Orphanet:228390"	"Orphanet:228390"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:450"	"ALX4"	"Orphanet:228390"	"Frontonasal dysplasia-alopecia-genital anomalies syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15506"	"2021-09-14"
"GENCC_000110-HGNC_461-Orphanet_100033-HP_0000007-GENCC_100009"	"HGNC:461"	"AMELX"	"MONDO:0015048"	"amelogenesis imperfecta type 2"	"Orphanet:100033"	"Orphanet:100033"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:461"	"AMELX"	"Orphanet:100033"	"Hypomaturation amelogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23251683[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15507"	"2021-09-14"
"GENCC_000110-HGNC_464-Orphanet_2856-HP_0000007-GENCC_100009"	"HGNC:464"	"AMH"	"MONDO:0009857"	"persistent Mullerian duct syndrome"	"Orphanet:2856"	"Orphanet:2856"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:464"	"AMH"	"Orphanet:2856"	"Persistent M³llerian duct syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23295284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15508"	"2021-09-14"
"GENCC_000110-HGNC_465-Orphanet_2856-HP_0000007-GENCC_100009"	"HGNC:465"	"AMHR2"	"MONDO:0009857"	"persistent Mullerian duct syndrome"	"Orphanet:2856"	"Orphanet:2856"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:465"	"AMHR2"	"Orphanet:2856"	"Persistent M³llerian duct syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23295284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15509"	"2021-09-14"
"GENCC_000110-HGNC_467-Orphanet_86818-HP_0001417-GENCC_100009"	"HGNC:467"	"AMMECR1"	"MONDO:0010263"	"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"	"Orphanet:86818"	"Orphanet:86818"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:467"	"AMMECR1"	"Orphanet:86818"	"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27811305[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15510"	"2021-09-14"
"GENCC_000110-HGNC_16472-Orphanet_79435-HP_0000007-GENCC_100009"	"HGNC:16472"	"SLC45A2"	"MONDO:0011683"	"oculocutaneous albinism type 4"	"Orphanet:79435"	"Orphanet:79435"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16472"	"SLC45A2"	"Orphanet:79435"	"Oculocutaneous albinism type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15511"	"2021-09-14"
"GENCC_000110-HGNC_11027-Orphanet_822-HP_0000006-GENCC_100009"	"HGNC:11027"	"SLC4A1"	"MONDO:0019350"	"hereditary spherocytosis"	"Orphanet:822"	"Orphanet:822"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11027"	"SLC4A1"	"Orphanet:822"	"Hereditary spherocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15512"	"2021-09-14"
"GENCC_000110-HGNC_11027-Orphanet_3202-HP_0000006-GENCC_100009"	"HGNC:11027"	"SLC4A1"	"MONDO:0017910"	"dehydrated hereditary stomatocytosis"	"Orphanet:3202"	"Orphanet:3202"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11027"	"SLC4A1"	"Orphanet:3202"	"Dehydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16227998[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15512"	"2021-09-14"
"GENCC_000110-HGNC_11027-Orphanet_93608-HP_0000006-GENCC_100009"	"HGNC:11027"	"SLC4A1"	"MONDO:0008368"	"autosomal dominant distal renal tubular acidosis"	"Orphanet:93608"	"Orphanet:93608"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11027"	"SLC4A1"	"Orphanet:93608"	"Autosomal dominant distal renal tubular acidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15512"	"2021-09-14"
"GENCC_000110-HGNC_11027-Orphanet_93610-HP_0000006-GENCC_100009"	"HGNC:11027"	"SLC4A1"	"MONDO:0012700"	"renal tubular acidosis, distal, 4, with hemolytic anemia"	"Orphanet:93610"	"Orphanet:93610"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11027"	"SLC4A1"	"Orphanet:93610"	"Distal renal tubular acidosis with anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15512"	"2021-09-14"
"GENCC_000110-HGNC_11027-Orphanet_98868-HP_0000006-GENCC_100009"	"HGNC:11027"	"SLC4A1"	"MONDO:0008165"	"southeast Asian ovalocytosis"	"Orphanet:98868"	"Orphanet:98868"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11027"	"SLC4A1"	"Orphanet:98868"	"Southeast Asian ovalocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]_23339107[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15512"	"2021-09-14"
"GENCC_000110-HGNC_11027-Orphanet_398088-HP_0000006-GENCC_100009"	"HGNC:11027"	"SLC4A1"	"MONDO:0008494"	"cryohydrocytosis"	"Orphanet:398088"	"Orphanet:398088"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11027"	"SLC4A1"	"Orphanet:398088"	"Hereditary cryohydrocytosis with normal stomatin"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16227998[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15512"	"2021-09-14"
"GENCC_000110-HGNC_16438-Orphanet_1490-HP_0000007-GENCC_100009"	"HGNC:16438"	"SLC4A11"	"MONDO:0009015"	"corneal dystrophy-perceptive deafness syndrome"	"Orphanet:1490"	"Orphanet:1490"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16438"	"SLC4A11"	"Orphanet:1490"	"Corneal dystrophy-perceptive deafness syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17220209[PMID]_18922146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15513"	"2021-09-14"
"GENCC_000110-HGNC_16438-Orphanet_98974-HP_0000006-GENCC_100009"	"HGNC:16438"	"SLC4A11"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"Orphanet:98974"	"Orphanet:98974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16438"	"SLC4A11"	"Orphanet:98974"	"Fuchs endothelial corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20848555[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15513"	"2021-09-14"
"GENCC_000110-HGNC_16438-Orphanet_293603-HP_0000007-GENCC_100009"	"HGNC:16438"	"SLC4A11"	"MONDO:0009019"	"congenital hereditary endothelial dystrophy of cornea"	"Orphanet:293603"	"Orphanet:293603"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16438"	"SLC4A11"	"Orphanet:293603"	"Congenital hereditary endothelial dystrophy type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16767101[PMID]_24351571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15513"	"2021-09-14"
"GENCC_000110-HGNC_11030-Orphanet_93607-HP_0000007-GENCC_100009"	"HGNC:11030"	"SLC4A4"	"MONDO:0011422"	"autosomal recessive proximal renal tubular acidosis"	"Orphanet:93607"	"Orphanet:93607"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11030"	"SLC4A4"	"Orphanet:93607"	"Autosomal recessive proximal renal tubular acidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15514"	"2021-09-14"
"GENCC_000110-HGNC_11036-Orphanet_35710-HP_0000007-GENCC_100009"	"HGNC:11036"	"SLC5A1"	"MONDO:0011731"	"glucose-galactose malabsorption"	"Orphanet:35710"	"Orphanet:35710"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11036"	"SLC5A1"	"Orphanet:35710"	"Glucose-galactose malabsorption"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8563765[PMID]_12139397[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15515"	"2021-09-14"
"GENCC_000110-HGNC_11037-Orphanet_69076-HP_0000006-GENCC_100009"	"HGNC:11037"	"SLC5A2"	"MONDO:0009297"	"familial renal glucosuria"	"Orphanet:69076"	"Orphanet:69076"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11037"	"SLC5A2"	"Orphanet:69076"	"Familial renal glucosuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14614622[PMID]_21165652[PMID]_24255686[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15516"	"2021-09-14"
"GENCC_000110-HGNC_11040-Orphanet_95716-HP_0000007-GENCC_100009"	"HGNC:11040"	"SLC5A5"	"MONDO:0010132"	"familial thyroid dyshormonogenesis"	"Orphanet:95716"	"Orphanet:95716"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11040"	"SLC5A5"	"Orphanet:95716"	"Familial thyroid dyshormonogenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_21543982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15517"	"2021-09-14"
"GENCC_000110-HGNC_27960-Orphanet_2116-HP_0000007-GENCC_100009"	"HGNC:27960"	"SLC6A19"	"MONDO:0009324"	"Hartnup disease"	"Orphanet:2116"	"Orphanet:2116"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27960"	"SLC6A19"	"Orphanet:2116"	"Hartnup disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15286787[PMID]_15286788[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15518"	"2021-09-14"
"GENCC_000110-HGNC_11055-Orphanet_52503-HP_0001417-GENCC_100009"	"HGNC:11055"	"SLC6A8"	"MONDO:0010305"	"creatine transporter deficiency"	"Orphanet:52503"	"Orphanet:52503"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11055"	"SLC6A8"	"Orphanet:52503"	"X-linked creatine transporter deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301745[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15519"	"2021-09-14"
"GENCC_000110-HGNC_11065-Orphanet_470-HP_0000007-GENCC_100009"	"HGNC:11065"	"SLC7A7"	"MONDO:0009109"	"lysinuric protein intolerance"	"Orphanet:470"	"Orphanet:470"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11065"	"SLC7A7"	"Orphanet:470"	"Lysinuric protein intolerance"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301535[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15520"	"2021-09-14"
"GENCC_000110-HGNC_11067-Orphanet_93613-HP_0032113-GENCC_100009"	"HGNC:11067"	"SLC7A9"	"MONDO:0019746"	"cystinuria type B"	"Orphanet:93613"	"Orphanet:93613"	"GENCC:100009"	"Supportive"	"HP:0032113"	"Semidominant"	"GENCC:000110"	"Orphanet"	"HGNC:11067"	"SLC7A9"	"Orphanet:93613"	"Cystinuria type B"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21255007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15521"	"2021-09-14"
"GENCC_000110-HGNC_18746-Orphanet_86923-HP_0000007-GENCC_100009"	"HGNC:18746"	"SLURP1"	"MONDO:0009489"	"hereditary palmoplantar keratoderma, Gamborg-Nielsen type"	"Orphanet:86923"	"Orphanet:86923"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18746"	"SLURP1"	"Orphanet:86923"	"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24604124[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15523"	"2021-09-14"
"GENCC_000110-HGNC_18746-Orphanet_87503-HP_0000007-GENCC_100009"	"HGNC:18746"	"SLURP1"	"MONDO:0009552"	"mal de Meleda"	"Orphanet:87503"	"Orphanet:87503"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18746"	"SLURP1"	"Orphanet:87503"	"Mal de Meleda"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12483299[PMID]_20854438[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15523"	"2021-09-14"
"GENCC_000110-HGNC_6770-Orphanet_774-HP_0000006-GENCC_100009"	"HGNC:6770"	"SMAD4"	"MONDO:0019180"	"hereditary hemorrhagic telangiectasia"	"Orphanet:774"	"Orphanet:774"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6770"	"SMAD4"	"Orphanet:774"	"Hereditary hemorrhagic telangiectasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301525[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15524"	"2021-09-14"
"GENCC_000110-HGNC_6770-Orphanet_2588-HP_0000006-GENCC_100009"	"HGNC:6770"	"SMAD4"	"MONDO:0007688"	"Myhre syndrome"	"Orphanet:2588"	"Orphanet:2588"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6770"	"SMAD4"	"Orphanet:2588"	"Myhre syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22243968[PMID]_22158539[PMID]_24398790[PMID]_24715504[PMID]_24580733[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15524"	"2021-09-14"
"GENCC_000110-HGNC_6770-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:6770"	"SMAD4"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6770"	"SMAD4"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30809044[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15524"	"2021-09-14"
"GENCC_000110-HGNC_6770-Orphanet_329971-HP_0000006-GENCC_100009"	"HGNC:6770"	"SMAD4"	"MONDO:0008276"	"generalized juvenile polyposis/juvenile polyposis coli"	"Orphanet:329971"	"Orphanet:329971"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6770"	"SMAD4"	"Orphanet:329971"	"Generalized juvenile polyposis/juvenile polyposis coli"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18823382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15524"	"2021-09-14"
"GENCC_000110-HGNC_11102-Orphanet_1830-HP_0000007-GENCC_100009"	"HGNC:11102"	"SMARCAL1"	"MONDO:0009458"	"Schimke immuno-osseous dysplasia"	"Orphanet:1830"	"Orphanet:1830"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11102"	"SMARCAL1"	"Orphanet:1830"	"Schimke immuno-osseous dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301550[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15525"	"2021-09-14"
"GENCC_000110-HGNC_11103-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:11103"	"SMARCB1"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11103"	"SMARCB1"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23556151[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15526"	"2021-09-14"
"GENCC_000110-HGNC_11103-Orphanet_93921-HP_0000006-GENCC_100009"	"HGNC:11103"	"SMARCB1"	"MONDO:0008075"	"schwannomatosis"	"Orphanet:93921"	"Orphanet:93921"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11103"	"SMARCB1"	"Orphanet:93921"	"Schwannomatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17357086[PMID]_23401320[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15526"	"2021-09-14"
"GENCC_000110-HGNC_11103-Orphanet_231108-HP_0000006-GENCC_100009"	"HGNC:11103"	"SMARCB1"	"MONDO:0016473"	"familial rhabdoid tumor"	"Orphanet:231108"	"Orphanet:231108"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11103"	"SMARCB1"	"Orphanet:231108"	"Familial rhabdoid tumor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10521299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15526"	"2021-09-14"
"GENCC_000110-HGNC_11103-Orphanet_263662-HP_0000006-GENCC_100009"	"HGNC:11103"	"SMARCB1"	"MONDO:0016995"	"familial multiple meningioma"	"Orphanet:263662"	"Orphanet:263662"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11103"	"SMARCB1"	"Orphanet:263662"	"Familial multiple meningioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20930055[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15526"	"2021-09-14"
"GENCC_000110-HGNC_11111-Orphanet_199-HP_0000006-GENCC_100009"	"HGNC:11111"	"SMC1A"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"Orphanet:199"	"Orphanet:199"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11111"	"SMC1A"	"Orphanet:199"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15527"	"2021-09-14"
"GENCC_000110-HGNC_11111-Orphanet_3095-HP_0000006-GENCC_100009"	"HGNC:11111"	"SMC1A"	"MONDO:0017746"	"atypical Rett syndrome"	"Orphanet:3095"	"Orphanet:3095"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11111"	"SMC1A"	"Orphanet:3095"	"Atypical Rett syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32222533[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15527"	"2021-09-14"
"GENCC_000110-HGNC_11120-Orphanet_77292-HP_0000007-GENCC_100009"	"HGNC:11120"	"SMPD1"	"MONDO:0009756"	"Niemann-Pick disease type A"	"Orphanet:77292"	"Orphanet:77292"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11120"	"SMPD1"	"Orphanet:77292"	"Niemann-Pick disease type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19405096[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15529"	"2021-09-14"
"GENCC_000110-HGNC_11120-Orphanet_77293-HP_0000007-GENCC_100009"	"HGNC:11120"	"SMPD1"	"MONDO:0011871"	"Niemann-Pick disease type B"	"Orphanet:77293"	"Orphanet:77293"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11120"	"SMPD1"	"Orphanet:77293"	"Niemann-Pick disease type B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19405096[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15529"	"2021-09-14"
"GENCC_000110-HGNC_11094-Orphanet_895-HP_0000006-GENCC_100009"	"HGNC:11094"	"SNAI2"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"Orphanet:895"	"Orphanet:895"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11094"	"SNAI2"	"Orphanet:895"	"Waardenburg syndrome type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12444107[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15530"	"2021-09-14"
"GENCC_000110-HGNC_11094-Orphanet_2884-HP_0000006-GENCC_100009"	"HGNC:11094"	"SNAI2"	"MONDO:0008244"	"piebaldism"	"Orphanet:2884"	"Orphanet:2884"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11094"	"SNAI2"	"Orphanet:2884"	"Piebaldism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12955764[PMID]_24443330[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15530"	"2021-09-14"
"GENCC_000110-HGNC_11133-Orphanet_66631-HP_0000007-GENCC_100009"	"HGNC:11133"	"SNAP29"	"MONDO:0012290"	"CEDNIK syndrome"	"Orphanet:66631"	"Orphanet:66631"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11133"	"SNAP29"	"Orphanet:66631"	"CEDNIK syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15968592[PMID]_21073448[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15531"	"2021-09-14"
"GENCC_000110-HGNC_11138-Orphanet_171695-HP_0000007-GENCC_100009"	"HGNC:11138"	"SNCA"	"MONDO:0009830"	"parkinsonian-pyramidal syndrome"	"Orphanet:171695"	"Orphanet:171695"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11138"	"SNCA"	"Orphanet:171695"	"Parkinsonian-pyramidal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23526723[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15532"	"2021-09-14"
"GENCC_000110-HGNC_11138-Orphanet_411602-HP_0000006-GENCC_100009"	"HGNC:11138"	"SNCA"	"MONDO:0018466"	"hereditary late onset Parkinson disease"	"Orphanet:411602"	"Orphanet:411602"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11138"	"SNCA"	"Orphanet:411602"	"Hereditary late-onset Parkinson disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID]_17489854[PMID]_18704525[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15532"	"2021-09-14"
"GENCC_000110-HGNC_11179-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:11179"	"SOD1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11179"	"SOD1"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301623[PMID]_23941283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15536"	"2021-09-14"
"GENCC_000110-HGNC_11187-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:11187"	"SOS1"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11187"	"SOS1"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17143285[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15537"	"2021-09-14"
"GENCC_000110-HGNC_11187-Orphanet_2024-HP_0000006-GENCC_100009"	"HGNC:11187"	"SOS1"	"MONDO:0016070"	"hereditary gingival fibromatosis"	"Orphanet:2024"	"Orphanet:2024"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11187"	"SOS1"	"Orphanet:2024"	"Hereditary gingival fibromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11868160[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15537"	"2021-09-14"
"GENCC_000110-HGNC_11190-Orphanet_895-HP_0000006-GENCC_100009"	"HGNC:11190"	"SOX10"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"Orphanet:895"	"Orphanet:895"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11190"	"SOX10"	"Orphanet:895"	"Waardenburg syndrome type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21898658[PMID]_17999358[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15538"	"2021-09-14"
"GENCC_000110-HGNC_11190-Orphanet_897-HP_0000006-GENCC_100009"	"HGNC:11190"	"SOX10"	"MONDO:0019518"	"Waardenburg-Shah syndrome"	"Orphanet:897"	"Orphanet:897"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11190"	"SOX10"	"Orphanet:897"	"Waardenburg-Shah syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22378281[PMID]_24311220[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15538"	"2021-09-14"
"GENCC_000110-HGNC_11190-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:11190"	"SOX10"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11190"	"SOX10"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15538"	"2021-09-14"
"GENCC_000110-HGNC_11190-Orphanet_163746-HP_0000006-GENCC_100009"	"HGNC:11190"	"SOX10"	"MONDO:0012198"	"PCWH syndrome"	"Orphanet:163746"	"Orphanet:163746"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11190"	"SOX10"	"Orphanet:163746"	"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22963253[PMID]_24311220[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15538"	"2021-09-14"
"GENCC_000110-HGNC_11194-Orphanet_69735-HP_0000006-GENCC_100009"	"HGNC:11194"	"SOX18"	"MONDO:0007670"	"hypotrichosis-lymphedema-telangiectasia syndrome (grouping)"	"Orphanet:69735"	"Orphanet:69735"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11194"	"SOX18"	"Orphanet:69735"	"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24697860[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15539"	"2021-09-14"
"GENCC_000110-HGNC_11195-Orphanet_3157-HP_0000006-GENCC_100009"	"HGNC:11195"	"SOX2"	"MONDO:0008428"	"septooptic dysplasia"	"Orphanet:3157"	"Orphanet:3157"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11195"	"SOX2"	"Orphanet:3157"	"Septo-optic dysplasia spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15540"	"2021-09-14"
"GENCC_000110-HGNC_11195-Orphanet_2542-HP_0000006-GENCC_100009"	"HGNC:11195"	"SOX2"	"MONDO:0016764"	"isolated anophthalmia-microphthalmia syndrome"	"Orphanet:2542"	"Orphanet:2542"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11195"	"SOX2"	"Orphanet:2542"	"Isolated microphthalmia-anophthalmia-coloboma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24033328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15540"	"2021-09-14"
"GENCC_000110-HGNC_11195-Orphanet_77298-HP_0000006-GENCC_100009"	"HGNC:11195"	"SOX2"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"Orphanet:77298"	"Orphanet:77298"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11195"	"SOX2"	"Orphanet:77298"	"Anophthalmia/microphthalmia-esophageal atresia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24033328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15540"	"2021-09-14"
"GENCC_000110-HGNC_11204-Orphanet_718-HP_0000006-GENCC_100009"	"HGNC:11204"	"SOX9"	"MONDO:0009869"	"isolated Pierre-Robin syndrome"	"Orphanet:718"	"Orphanet:718"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11204"	"SOX9"	"Orphanet:718"	"Isolated Pierre Robin syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24934569[PMID]_19234473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15541"	"2021-09-14"
"GENCC_000110-HGNC_11204-Orphanet_140-HP_0000006-GENCC_100009"	"HGNC:11204"	"SOX9"	"MONDO:0007251"	"campomelic dysplasia"	"Orphanet:140"	"Orphanet:140"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11204"	"SOX9"	"Orphanet:140"	"Campomelic dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22051515[PMID]_20301724[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15541"	"2021-09-14"
"GENCC_000110-HGNC_11204-Orphanet_242-HP_0000006-GENCC_100009"	"HGNC:11204"	"SOX9"	"MONDO:0010765"	"46,XY complete gonadal dysgenesis"	"Orphanet:242"	"Orphanet:242"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11204"	"SOX9"	"Orphanet:242"	"46,XY complete gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22051515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15541"	"2021-09-14"
"GENCC_000110-HGNC_11204-Orphanet_2138-HP_0000006-GENCC_100009"	"HGNC:11204"	"SOX9"	"MONDO:0016281"	"46,XX ovotesticular disorder of sex development"	"Orphanet:2138"	"Orphanet:2138"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11204"	"SOX9"	"Orphanet:2138"	"46,XX ovotesticular disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22051515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15541"	"2021-09-14"
"GENCC_000110-HGNC_11204-Orphanet_393-HP_0000006-GENCC_100009"	"HGNC:11204"	"SOX9"	"MONDO:0010766"	"46,XX sex reversal 1"	"Orphanet:393"	"Orphanet:393"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11204"	"SOX9"	"Orphanet:393"	"46,XX testicular disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24140641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15541"	"2021-09-14"
"GENCC_000110-HGNC_11204-Orphanet_251510-HP_0000006-GENCC_100009"	"HGNC:11204"	"SOX9"	"MONDO:0016674"	"46,XY partial gonadal dysgenesis"	"Orphanet:251510"	"Orphanet:251510"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11204"	"SOX9"	"Orphanet:251510"	"46,XY partial gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22051515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15541"	"2021-09-14"
"GENCC_000110-HGNC_5401-Orphanet_79124-HP_0000007-GENCC_100009"	"HGNC:5401"	"SP110"	"MONDO:0009338"	"hepatic veno-occlusive disease-immunodeficiency syndrome"	"Orphanet:79124"	"Orphanet:79124"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5401"	"SP110"	"Orphanet:79124"	"Hepatic veno-occlusive disease-immunodeficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16648851[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15542"	"2021-09-14"
"GENCC_000110-HGNC_11233-Orphanet_100985-HP_0000006-GENCC_100009"	"HGNC:11233"	"SPAST"	"MONDO:0008438"	"hereditary spastic paraplegia 4"	"Orphanet:100985"	"Orphanet:100985"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11233"	"SPAST"	"Orphanet:100985"	"Autosomal dominant spastic paraplegia type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17895902[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15543"	"2021-09-14"
"GENCC_000110-HGNC_11226-Orphanet_2822-HP_0000007-GENCC_100009"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"Orphanet:2822"	"Orphanet:2822"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11226"	"SPG11"	"Orphanet:2822"	"Autosomal recessive spastic paraplegia type 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19105190[PMID]_17322883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15544"	"2021-09-14"
"GENCC_000110-HGNC_11226-Orphanet_300605-HP_0000007-GENCC_100009"	"HGNC:11226"	"SPG11"	"MONDO:0017593"	"juvenile amyotrophic lateral sclerosis"	"Orphanet:300605"	"Orphanet:300605"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11226"	"SPG11"	"Orphanet:300605"	"Juvenile amyotrophic lateral sclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085347[PMID]_22154821[PMID]_20110243[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15544"	"2021-09-14"
"GENCC_000110-HGNC_11226-Orphanet_466775-HP_0000007-GENCC_100009"	"HGNC:11226"	"SPG11"	"MONDO:0014726"	"Charcot-Marie-Tooth disease axonal type 2X"	"Orphanet:466775"	"Orphanet:466775"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11226"	"SPG11"	"Orphanet:466775"	"Autosomal recessive Charcot-Marie-Tooth disease type 2X"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26556829[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15544"	"2021-09-14"
"GENCC_000110-HGNC_18514-Orphanet_101000-HP_0000007-GENCC_100009"	"HGNC:18514"	"SPART"	"MONDO:0010156"	"Troyer syndrome"	"Orphanet:101000"	"Orphanet:101000"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18514"	"SPART"	"Orphanet:101000"	"Autosomal recessive spastic paraplegia type 20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12134148[PMID]_20437587[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15545"	"2021-09-14"
"GENCC_000110-HGNC_20373-Orphanet_101001-HP_0000007-GENCC_100009"	"HGNC:20373"	"SPG21"	"MONDO:0009568"	"mast syndrome"	"Orphanet:101001"	"Orphanet:101001"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20373"	"SPG21"	"Orphanet:101001"	"Autosomal recessive spastic paraplegia type 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15546"	"2021-09-14"
"GENCC_000110-HGNC_11231-Orphanet_36386-HP_0000006-GENCC_100009"	"HGNC:11231"	"ATL1"	"MONDO:0018213"	"hereditary sensory and autonomic neuropathy type 1"	"Orphanet:36386"	"Orphanet:36386"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11231"	"ATL1"	"Orphanet:36386"	"Hereditary sensory and autonomic neuropathy type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21194679[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15547"	"2021-09-14"
"GENCC_000110-HGNC_11231-Orphanet_100984-HP_0000006-GENCC_100009"	"HGNC:11231"	"ATL1"	"MONDO:0008437"	"hereditary spastic paraplegia 3A"	"Orphanet:100984"	"Orphanet:100984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11231"	"ATL1"	"Orphanet:100984"	"Autosomal dominant spastic paraplegia type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11685207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15547"	"2021-09-14"
"GENCC_000110-HGNC_11237-Orphanet_35689-HP_0000006-GENCC_100009"	"HGNC:11237"	"SPG7"	"MONDO:0018155"	"lateral sclerosis"	"Orphanet:35689"	"Orphanet:35689"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11237"	"SPG7"	"Orphanet:35689"	"Primary lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27123479[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15548"	"2021-09-14"
"GENCC_000110-HGNC_11237-Orphanet_99013-HP_0000006-GENCC_100009"	"HGNC:11237"	"SPG7"	"MONDO:0011803"	"hereditary spastic paraplegia 7"	"Orphanet:99013"	"Orphanet:99013"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11237"	"SPG7"	"Orphanet:99013"	"Spastic paraplegia type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17646629[PMID]_20301286[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15548"	"2021-09-14"
"GENCC_000110-HGNC_11244-Orphanet_676-HP_0000006-GENCC_100009"	"HGNC:11244"	"SPINK1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"Orphanet:676"	"Orphanet:676"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11244"	"SPINK1"	"Orphanet:676"	"Hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17274009[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15549"	"2021-09-14"
"GENCC_000110-HGNC_15464-Orphanet_634-HP_0000007-GENCC_100009"	"HGNC:15464"	"SPINK5"	"MONDO:0009735"	"Netherton syndrome"	"Orphanet:634"	"Orphanet:634"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15464"	"SPINK5"	"Orphanet:634"	"Netherton syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10835624[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15550"	"2021-09-14"
"GENCC_000110-HGNC_11257-Orphanet_70594-HP_0000007-GENCC_100009"	"HGNC:11257"	"SPR"	"MONDO:0012994"	"dopa-responsive dystonia due to sepiapterin reductase deficiency"	"Orphanet:70594"	"Orphanet:70594"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11257"	"SPR"	"Orphanet:70594"	"Dopa-responsive dystonia due to sepiapterin reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15551"	"2021-09-14"
"GENCC_000110-HGNC_11272-Orphanet_822-HP_0000006-GENCC_100009"	"HGNC:11272"	"SPTA1"	"MONDO:0019350"	"hereditary spherocytosis"	"Orphanet:822"	"Orphanet:822"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11272"	"SPTA1"	"Orphanet:822"	"Hereditary spherocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15552"	"2021-09-14"
"GENCC_000110-HGNC_11272-Orphanet_288-HP_0000006-GENCC_100009"	"HGNC:11272"	"SPTA1"	"MONDO:0017319"	"hereditary elliptocytosis"	"Orphanet:288"	"Orphanet:288"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11272"	"SPTA1"	"Orphanet:288"	"Hereditary elliptocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15552"	"2021-09-14"
"GENCC_000110-HGNC_11274-Orphanet_822-HP_0000006-GENCC_100009"	"HGNC:11274"	"SPTB"	"MONDO:0019350"	"hereditary spherocytosis"	"Orphanet:822"	"Orphanet:822"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11274"	"SPTB"	"Orphanet:822"	"Hereditary spherocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15553"	"2021-09-14"
"GENCC_000110-HGNC_11274-Orphanet_288-HP_0000006-GENCC_100009"	"HGNC:11274"	"SPTB"	"MONDO:0017319"	"hereditary elliptocytosis"	"Orphanet:288"	"Orphanet:288"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11274"	"SPTB"	"Orphanet:288"	"Hereditary elliptocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15553"	"2021-09-14"
"GENCC_000110-HGNC_11276-Orphanet_98766-HP_0000006-GENCC_100009"	"HGNC:11276"	"SPTBN2"	"MONDO:0010848"	"spinocerebellar ataxia type 5"	"Orphanet:98766"	"Orphanet:98766"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11276"	"SPTBN2"	"Orphanet:98766"	"Spinocerebellar ataxia type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15554"	"2021-09-14"
"GENCC_000110-HGNC_11276-Orphanet_352403-HP_0000007-GENCC_100009"	"HGNC:11276"	"SPTBN2"	"MONDO:0014159"	"autosomal recessive spinocerebellar ataxia 14"	"Orphanet:352403"	"Orphanet:352403"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11276"	"SPTBN2"	"Orphanet:352403"	"Spectrin-associated autosomal recessive cerebellar ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23236289[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15554"	"2021-09-14"
"GENCC_000110-HGNC_11277-Orphanet_36386-HP_0000006-GENCC_100009"	"HGNC:11277"	"SPTLC1"	"MONDO:0018213"	"hereditary sensory and autonomic neuropathy type 1"	"Orphanet:36386"	"Orphanet:36386"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11277"	"SPTLC1"	"Orphanet:36386"	"Hereditary sensory and autonomic neuropathy type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11242114[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15555"	"2021-09-14"
"GENCC_000110-HGNC_11285-Orphanet_753-HP_0000007-GENCC_100009"	"HGNC:11285"	"SRD5A2"	"MONDO:0009923"	"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency"	"Orphanet:753"	"Orphanet:753"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11285"	"SRD5A2"	"Orphanet:753"	"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8723114[PMID]_9497950[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15556"	"2021-09-14"
"GENCC_000110-HGNC_30668-Orphanet_163721-HP_0000006-GENCC_100009"	"HGNC:30668"	"SRPX2"	"MONDO:0015587"	"rolandic epilepsy-speech dyspraxia syndrome"	"Orphanet:163721"	"Orphanet:163721"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30668"	"SRPX2"	"Orphanet:163721"	"Rolandic epilepsy-speech dyspraxia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16497722[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15557"	"2021-09-14"
"GENCC_000110-HGNC_11311-Orphanet_242-HP_0000006-GENCC_100009"	"HGNC:11311"	"SRY"	"MONDO:0010765"	"46,XY complete gonadal dysgenesis"	"Orphanet:242"	"Orphanet:242"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11311"	"SRY"	"Orphanet:242"	"46,XY complete gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301714[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15558"	"2021-09-14"
"GENCC_000110-HGNC_11311-Orphanet_2138-HP_0000006-GENCC_100009"	"HGNC:11311"	"SRY"	"MONDO:0016281"	"46,XX ovotesticular disorder of sex development"	"Orphanet:2138"	"Orphanet:2138"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11311"	"SRY"	"Orphanet:2138"	"46,XX ovotesticular disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1740318[PMID]_11912443[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15558"	"2021-09-14"
"GENCC_000110-HGNC_11311-Orphanet_393-HP_0000006-GENCC_100009"	"HGNC:11311"	"SRY"	"MONDO:0010766"	"46,XX sex reversal 1"	"Orphanet:393"	"Orphanet:393"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11311"	"SRY"	"Orphanet:393"	"46,XX testicular disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301589[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15558"	"2021-09-14"
"GENCC_000110-HGNC_11311-Orphanet_251510-HP_0000006-GENCC_100009"	"HGNC:11311"	"SRY"	"MONDO:0016674"	"46,XY partial gonadal dysgenesis"	"Orphanet:251510"	"Orphanet:251510"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11311"	"SRY"	"Orphanet:251510"	"46,XY partial gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17493621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15558"	"2021-09-14"
"GENCC_000110-HGNC_11362-Orphanet_319595-HP_0000006-GENCC_100009"	"HGNC:11362"	"STAT1"	"MONDO:0013956"	"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"	"Orphanet:319595"	"Orphanet:319595"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11362"	"STAT1"	"Orphanet:319595"	"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15563"	"2021-09-14"
"GENCC_000110-HGNC_11362-Orphanet_391311-HP_0000007-GENCC_100009"	"HGNC:11362"	"STAT1"	"MONDO:0013427"	"immunodeficiency 31B"	"Orphanet:391311"	"Orphanet:391311"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11362"	"STAT1"	"Orphanet:391311"	"Susceptibility to viral and mycobacterial infections due to STAT1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23403048[PMID]_23534974[PMID]_23541320[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15563"	"2021-09-14"
"GENCC_000110-HGNC_11362-Orphanet_391487-HP_0000006-GENCC_100009"	"HGNC:11362"	"STAT1"	"MONDO:0013599"	"autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"	"Orphanet:391487"	"Orphanet:391487"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11362"	"STAT1"	"Orphanet:391487"	"Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23534974[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15563"	"2021-09-14"
"GENCC_000110-HGNC_11367-Orphanet_220465-HP_0000007-GENCC_100009"	"HGNC:11367"	"STAT5B"	"MONDO:0100211"	"growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	"Orphanet:220465"	"Orphanet:220465"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11367"	"STAT5B"	"Orphanet:220465"	"Laron syndrome with immunodeficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22419735[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15564"	"2021-09-14"
"GENCC_000110-HGNC_11389-Orphanet_2869-HP_0000006-GENCC_100009"	"HGNC:11389"	"STK11"	"MONDO:0008280"	"Peutz-Jeghers syndrome"	"Orphanet:2869"	"Orphanet:2869"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11389"	"STK11"	"Orphanet:2869"	"Peutz-Jeghers syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9837816[PMID]_20581245[PMID]_20301443[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15565"	"2021-09-14"
"GENCC_000110-HGNC_11425-Orphanet_461-HP_0001417-GENCC_100009"	"HGNC:11425"	"STS"	"MONDO:0010622"	"recessive X-linked ichthyosis"	"Orphanet:461"	"Orphanet:461"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11425"	"STS"	"Orphanet:461"	"Recessive X-linked ichthyosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10583107[PMID]_10692123[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15566"	"2021-09-14"
"GENCC_000110-HGNC_11429-Orphanet_540-HP_0000007-GENCC_100009"	"HGNC:11429"	"STX11"	"MONDO:0015541"	"hereditary hemophagocytic lymphohistiocytosis"	"Orphanet:540"	"Orphanet:540"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11429"	"STX11"	"Orphanet:540"	"Familial hemophagocytic lymphohistiocytosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11179007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15567"	"2021-09-14"
"GENCC_000110-HGNC_11448-Orphanet_1933-HP_0001427-GENCC_100009"	"HGNC:11448"	"SUCLA2"	"MONDO:0012791"	"mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"	"Orphanet:1933"	"Orphanet:1933"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:11448"	"SUCLA2"	"Orphanet:1933"	"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17287286[PMID]_20301762[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15568"	"2021-09-14"
"GENCC_000110-HGNC_16466-Orphanet_377-HP_0000006-GENCC_100009"	"HGNC:16466"	"SUFU"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"Orphanet:377"	"Orphanet:377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16466"	"SUFU"	"Orphanet:377"	"Gorlin syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25403219[PMID]_19533801[PMID]_22829011[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15569"	"2021-09-14"
"GENCC_000110-HGNC_16466-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:16466"	"SUFU"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16466"	"SUFU"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33024317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15569"	"2021-09-14"
"GENCC_000110-HGNC_20376-Orphanet_585-HP_0000007-GENCC_100009"	"HGNC:20376"	"SUMF1"	"MONDO:0010088"	"mucosulfatidosis"	"Orphanet:585"	"Orphanet:585"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20376"	"SUMF1"	"Orphanet:585"	"Multiple sulfatase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17657823[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15570"	"2021-09-14"
"GENCC_000110-HGNC_11474-Orphanet_70474-HP_0000007-GENCC_100009"	"HGNC:11474"	"SURF1"	"MONDO:0019083"	"Leigh syndrome with cardiomyopathy"	"Orphanet:70474"	"Orphanet:70474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11474"	"SURF1"	"Orphanet:70474"	"Leigh syndrome with cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23829769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15572"	"2021-09-14"
"GENCC_000110-HGNC_11474-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:11474"	"SURF1"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11474"	"SURF1"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23829769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15572"	"2021-09-14"
"GENCC_000110-HGNC_11474-Orphanet_391351-HP_0000007-GENCC_100009"	"HGNC:11474"	"SURF1"	"MONDO:0014733"	"Charcot-Marie-Tooth disease type 4K"	"Orphanet:391351"	"Orphanet:391351"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11474"	"SURF1"	"Orphanet:391351"	"SURF1-related Charcot-Marie-Tooth disease type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24027061[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15572"	"2021-09-14"
"GENCC_000110-HGNC_11494-Orphanet_85294-HP_0001417-GENCC_100009"	"HGNC:11494"	"SYN1"	"MONDO:0010339"	"epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	"Orphanet:85294"	"Orphanet:85294"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11494"	"SYN1"	"Orphanet:85294"	"X-linked epilepsy-learning disabilities-behavior disorders syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14985377[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15573"	"2021-09-14"
"GENCC_000110-HGNC_11515-Orphanet_397927-HP_0000007-GENCC_100009"	"HGNC:11515"	"TBXT"	"MONDO:0014314"	"sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"	"Orphanet:397927"	"Orphanet:397927"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11515"	"TBXT"	"Orphanet:397927"	"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24253444[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15574"	"2021-09-14"
"GENCC_000110-HGNC_11530-Orphanet_98957-HP_0000007-GENCC_100009"	"HGNC:11530"	"TACSTD2"	"MONDO:0008777"	"gelatinous drop-like corneal dystrophy"	"Orphanet:98957"	"Orphanet:98957"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11530"	"TACSTD2"	"Orphanet:98957"	"Gelatinous drop-like corneal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20454699[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15575"	"2021-09-14"
"GENCC_000110-HGNC_44-Orphanet_34592-HP_0000007-GENCC_100009"	"HGNC:44"	"TAP2"	"MONDO:0011476"	"MHC class I deficiency"	"Orphanet:34592"	"Orphanet:34592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:44"	"TAP2"	"Orphanet:34592"	"Immunodeficiency by defective expression of MHC class I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10560675[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15578"	"2021-09-14"
"GENCC_000110-HGNC_11573-Orphanet_28378-HP_0000007-GENCC_100009"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"tyrosinemia type II"	"Orphanet:28378"	"Orphanet:28378"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11573"	"TAT"	"Orphanet:28378"	"Tyrosinemia type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1357662[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15579"	"2021-09-14"
"GENCC_000110-HGNC_11582-Orphanet_2323-HP_0000007-GENCC_100009"	"HGNC:11582"	"TBCE"	"MONDO:0009426"	"hypoparathyroidism-retardation-dysmorphism syndrome"	"Orphanet:2323"	"Orphanet:2323"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11582"	"TBCE"	"Orphanet:2323"	"Sanjad-Sakati syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12389028[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15581"	"2021-09-14"
"GENCC_000110-HGNC_11582-Orphanet_93324-HP_0000007-GENCC_100009"	"HGNC:11582"	"TBCE"	"MONDO:0009486"	"autosomal recessive Kenny-Caffey syndrome"	"Orphanet:93324"	"Orphanet:93324"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11582"	"TBCE"	"Orphanet:93324"	"Autosomal recessive Kenny-Caffey syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12389028[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15581"	"2021-09-14"
"GENCC_000110-HGNC_11588-Orphanet_98759-HP_0000006-GENCC_100009"	"HGNC:11588"	"TBP"	"MONDO:0011781"	"spinocerebellar ataxia type 17"	"Orphanet:98759"	"Orphanet:98759"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11588"	"TBP"	"Orphanet:98759"	"Spinocerebellar ataxia type 17"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15583"	"2021-09-14"
"GENCC_000110-HGNC_11592-Orphanet_567-HP_0000006-GENCC_100009"	"HGNC:11592"	"TBX1"	"MONDO:0018923"	"22q11.2 deletion syndrome"	"Orphanet:567"	"Orphanet:567"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11592"	"TBX1"	"Orphanet:567"	"22q11.2 deletion syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14585638[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15584"	"2021-09-14"
"GENCC_000110-HGNC_11596-Orphanet_199296-HP_0000007-GENCC_100009"	"HGNC:11596"	"TBX19"	"MONDO:0008720"	"congenital isolated adrenocorticotropic hormone deficiency"	"Orphanet:199296"	"Orphanet:199296"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11596"	"TBX19"	"Orphanet:199296"	"Congenital isolated ACTH deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15476446[PMID]_15613420[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15585"	"2021-09-14"
"GENCC_000110-HGNC_11600-Orphanet_921-HP_0001417-GENCC_100009"	"HGNC:11600"	"TBX22"	"MONDO:0010554"	"Abruzzo-Erickson syndrome"	"Orphanet:921"	"Orphanet:921"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11600"	"TBX22"	"Orphanet:921"	"Abruzzo-Erickson syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22784330[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15586"	"2021-09-14"
"GENCC_000110-HGNC_11600-Orphanet_324601-HP_0001417-GENCC_100009"	"HGNC:11600"	"TBX22"	"MONDO:0010560"	"cleft palate with or without ankyloglossia, X-linked"	"Orphanet:324601"	"Orphanet:324601"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11600"	"TBX22"	"Orphanet:324601"	"X-linked cleft palate and ankyloglossia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11559848[PMID]_12374769[PMID]_14729838[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15586"	"2021-09-14"
"GENCC_000110-HGNC_11602-Orphanet_3138-HP_0000006-GENCC_100009"	"HGNC:11602"	"TBX3"	"MONDO:0008411"	"ulnar-mammary syndrome"	"Orphanet:3138"	"Orphanet:3138"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11602"	"TBX3"	"Orphanet:3138"	"Ulnar-mammary syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19938096[PMID]_10330342[PMID]_12668170[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15587"	"2021-09-14"
"GENCC_000110-HGNC_11603-Orphanet_1509-HP_0000006-GENCC_100009"	"HGNC:11603"	"TBX4"	"MONDO:0007841"	"coxopodopatellar syndrome"	"Orphanet:1509"	"Orphanet:1509"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11603"	"TBX4"	"Orphanet:1509"	"Coxopodopatellar syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15106123[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15588"	"2021-09-14"
"GENCC_000110-HGNC_11603-Orphanet_275777-HP_0000006-GENCC_100009"	"HGNC:11603"	"TBX4"	"MONDO:0017148"	"heritable pulmonary arterial hypertension"	"Orphanet:275777"	"Orphanet:275777"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11603"	"TBX4"	"Orphanet:275777"	"Heritable pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23502781[PMID]_23592887[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15588"	"2021-09-14"
"GENCC_000110-HGNC_11604-Orphanet_392-HP_0000006-GENCC_100009"	"HGNC:11604"	"TBX5"	"MONDO:0007732"	"Holt-Oram syndrome"	"Orphanet:392"	"Orphanet:392"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11604"	"TBX5"	"Orphanet:392"	"Holt-Oram syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301290[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15589"	"2021-09-14"
"GENCC_000110-HGNC_11610-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:11610"	"TCAP"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11610"	"TCAP"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15582318[PMID]_19412328[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15590"	"2021-09-14"
"GENCC_000110-HGNC_11610-Orphanet_34514-HP_0000007-GENCC_100009"	"HGNC:11610"	"TCAP"	"MONDO:0011170"	"autosomal recessive limb-girdle muscular dystrophy type 2G"	"Orphanet:34514"	"Orphanet:34514"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11610"	"TCAP"	"Orphanet:34514"	"Telethonin-related limb-girdle muscular dystrophy R7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15590"	"2021-09-14"
"GENCC_000110-HGNC_11647-Orphanet_486-HP_0000006-GENCC_100009"	"HGNC:11647"	"TCIRG1"	"MONDO:0008742"	"autosomal dominant severe congenital neutropenia"	"Orphanet:486"	"Orphanet:486"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11647"	"TCIRG1"	"Orphanet:486"	"Autosomal dominant severe congenital neutropenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24753205[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15593"	"2021-09-14"
"GENCC_000110-HGNC_11647-Orphanet_1782-HP_0000007-GENCC_100009"	"HGNC:11647"	"TCIRG1"	"MONDO:0009138"	"dysosteosclerosis"	"Orphanet:1782"	"Orphanet:1782"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11647"	"TCIRG1"	"Orphanet:1782"	"Dysosteosclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30537558[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15593"	"2021-09-14"
"GENCC_000110-HGNC_11647-Orphanet_667-HP_0000007-GENCC_100009"	"HGNC:11647"	"TCIRG1"	"MONDO:0019026"	"autosomal recessive osteopetrosis"	"Orphanet:667"	"Orphanet:667"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11647"	"TCIRG1"	"Orphanet:667"	"Autosomal recessive malignant osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20424301[PMID]_15300850[PMID]_21042819[PMID]_23877423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15593"	"2021-09-14"
"GENCC_000110-HGNC_11647-Orphanet_210110-HP_0000007-GENCC_100009"	"HGNC:11647"	"TCIRG1"	"MONDO:0012679"	"autosomal recessive osteopetrosis 6"	"Orphanet:210110"	"Orphanet:210110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11647"	"TCIRG1"	"Orphanet:210110"	"Intermediate osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24535816[PMID]_25829125[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15593"	"2021-09-14"
"GENCC_000110-HGNC_11653-Orphanet_859-HP_0000007-GENCC_100009"	"HGNC:11653"	"TCN2"	"MONDO:0010149"	"transcobalamin II deficiency"	"Orphanet:859"	"Orphanet:859"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11653"	"TCN2"	"Orphanet:859"	"Transcobalamin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20607612[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15594"	"2021-09-14"
"GENCC_000110-HGNC_11654-Orphanet_861-HP_0000006-GENCC_100009"	"HGNC:11654"	"TCOF1"	"MONDO:0002457"	"Treacher-Collins syndrome"	"Orphanet:861"	"Orphanet:861"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11654"	"TCOF1"	"Orphanet:861"	"Treacher-Collins syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301704[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15595"	"2021-09-14"
"GENCC_000110-HGNC_18884-Orphanet_94124-HP_0000007-GENCC_100009"	"HGNC:18884"	"TDP1"	"MONDO:0011801"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"	"Orphanet:94124"	"Orphanet:94124"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18884"	"TDP1"	"Orphanet:94124"	"Spinocerebellar ataxia with axonal neuropathy type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15596"	"2021-09-14"
"GENCC_000110-HGNC_11714-Orphanet_86813-HP_0000006-GENCC_100009"	"HGNC:11714"	"TEAD1"	"MONDO:0007176"	"helicoid peripapillary chorioretinal degeneration"	"Orphanet:86813"	"Orphanet:86813"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11714"	"TEAD1"	"Orphanet:86813"	"Helicoid peripapillary chorioretinal degeneration"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15016762[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15597"	"2021-09-14"
"GENCC_000110-HGNC_11720-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:11720"	"TECTA"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11720"	"TECTA"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15598"	"2021-09-14"
"GENCC_000110-HGNC_11720-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:11720"	"TECTA"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11720"	"TECTA"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15598"	"2021-09-14"
"GENCC_000110-HGNC_11724-Orphanet_2451-HP_0000006-GENCC_100009"	"HGNC:11724"	"TEK"	"MONDO:0010842"	"multiple cutaneous and mucosal venous malformations"	"Orphanet:2451"	"Orphanet:2451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11724"	"TEK"	"Orphanet:2451"	"Mucocutaneous venous malformations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301733[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15599"	"2021-09-14"
"GENCC_000110-HGNC_11724-Orphanet_98976-HP_0000006-GENCC_100009"	"HGNC:11724"	"TEK"	"MONDO:0020366"	"congenital glaucoma"	"Orphanet:98976"	"Orphanet:98976"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11724"	"TEK"	"Orphanet:98976"	"Congenital glaucoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27270174[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15599"	"2021-09-14"
"GENCC_000110-HGNC_11740-Orphanet_1195-HP_0000007-GENCC_100009"	"HGNC:11740"	"TF"	"MONDO:0008846"	"atransferrinemia"	"Orphanet:1195"	"Orphanet:1195"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11740"	"TF"	"Orphanet:1195"	"Congenital atransferrinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15600"	"2021-09-14"
"GENCC_000110-HGNC_11743-Orphanet_46627-HP_0000006-GENCC_100009"	"HGNC:11743"	"TFAP2B"	"MONDO:0008209"	"Char syndrome"	"Orphanet:46627"	"Orphanet:46627"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11743"	"TFAP2B"	"Orphanet:46627"	"Char syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301285[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15601"	"2021-09-14"
"GENCC_000110-HGNC_11743-Orphanet_466729-HP_0000006-GENCC_100009"	"HGNC:11743"	"TFAP2B"	"MONDO:0018758"	"familial patent arterial duct"	"Orphanet:466729"	"Orphanet:466729"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11743"	"TFAP2B"	"Orphanet:466729"	"Familial patent arterial duct"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21643846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15601"	"2021-09-14"
"GENCC_000110-HGNC_11758-Orphanet_90117-HP_0000006-GENCC_100009"	"HGNC:11758"	"TFG"	"MONDO:0011468"	"hereditary motor and sensory neuropathy, Okinawa type"	"Orphanet:90117"	"Orphanet:90117"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11758"	"TFG"	"Orphanet:90117"	"Hereditary motor and sensory neuropathy, Okinawa type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22883144[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15604"	"2021-09-14"
"GENCC_000110-HGNC_11758-Orphanet_431329-HP_0000007-GENCC_100009"	"HGNC:11758"	"TFG"	"MONDO:0014295"	"hereditary spastic paraplegia 57"	"Orphanet:431329"	"Orphanet:431329"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11758"	"TFG"	"Orphanet:431329"	"Autosomal recessive spastic paraplegia type 57"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23479643[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15604"	"2021-09-14"
"GENCC_000110-HGNC_11758-Orphanet_435819-HP_0000006-GENCC_100009"	"HGNC:11758"	"TFG"	"MONDO:0018567"	"autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"	"Orphanet:435819"	"Orphanet:435819"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11758"	"TFG"	"Orphanet:435819"	"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25098539[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15604"	"2021-09-14"
"GENCC_000110-HGNC_11762-Orphanet_225123-HP_0000007-GENCC_100009"	"HGNC:11762"	"TFR2"	"MONDO:0011417"	"hemochromatosis type 3"	"Orphanet:225123"	"Orphanet:225123"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11762"	"TFR2"	"Orphanet:225123"	"Hemochromatosis type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26029709[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15605"	"2021-09-14"
"GENCC_000110-HGNC_11766-Orphanet_1328-HP_0000006-GENCC_100009"	"HGNC:11766"	"TGFB1"	"MONDO:0007542"	"Camurati-Engelmann disease"	"Orphanet:1328"	"Orphanet:1328"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11766"	"TGFB1"	"Orphanet:1328"	"Camurati-Engelmann disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301335[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15606"	"2021-09-14"
"GENCC_000110-HGNC_11766-Orphanet_565788-HP_0000007-GENCC_100009"	"HGNC:11766"	"TGFB1"	"MONDO:0032601"	"inflammatory bowel disease, immunodeficiency, and encephalopathy"	"Orphanet:565788"	"Orphanet:565788"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11766"	"TGFB1"	"Orphanet:565788"	"Infantile inflammatory bowel disease with neurological involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29483653[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15606"	"2021-09-14"
"GENCC_000110-HGNC_11768-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:11768"	"TGFB2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11768"	"TGFB2"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22772371[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15607"	"2021-09-14"
"GENCC_000110-HGNC_11769-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:11769"	"TGFB3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11769"	"TGFB3"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23824657[PMID]_25835445[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15608"	"2021-09-14"
"GENCC_000110-HGNC_11771-Orphanet_98956-HP_0000006-GENCC_100009"	"HGNC:11771"	"TGFBI"	"MONDO:0007375"	"epithelial basement membrane dystrophy"	"Orphanet:98956"	"Orphanet:98956"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11771"	"TGFBI"	"Orphanet:98956"	"Epithelial basement membrane dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16652336[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15609"	"2021-09-14"
"GENCC_000110-HGNC_11771-Orphanet_98960-HP_0000006-GENCC_100009"	"HGNC:11771"	"TGFBI"	"MONDO:0011185"	"Thiel-Behnke corneal dystrophy"	"Orphanet:98960"	"Orphanet:98960"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11771"	"TGFBI"	"Orphanet:98960"	"Thiel-Behnke corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26464103[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15609"	"2021-09-14"
"GENCC_000110-HGNC_11771-Orphanet_98961-HP_0000006-GENCC_100009"	"HGNC:11771"	"TGFBI"	"MONDO:0012043"	"Reis-Bucklers corneal dystrophy"	"Orphanet:98961"	"Orphanet:98961"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11771"	"TGFBI"	"Orphanet:98961"	"Reis-B³cklers corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20360992[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15609"	"2021-09-14"
"GENCC_000110-HGNC_11771-Orphanet_98962-HP_0000006-GENCC_100009"	"HGNC:11771"	"TGFBI"	"MONDO:0007377"	"granular corneal dystrophy type I"	"Orphanet:98962"	"Orphanet:98962"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11771"	"TGFBI"	"Orphanet:98962"	"Granular corneal dystrophy type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21264234[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15609"	"2021-09-14"
"GENCC_000110-HGNC_11771-Orphanet_98963-HP_0000006-GENCC_100009"	"HGNC:11771"	"TGFBI"	"MONDO:0011855"	"granular corneal dystrophy type II"	"Orphanet:98963"	"Orphanet:98963"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11771"	"TGFBI"	"Orphanet:98963"	"Granular corneal dystrophy type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22815629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15609"	"2021-09-14"
"GENCC_000110-HGNC_11771-Orphanet_98964-HP_0000006-GENCC_100009"	"HGNC:11771"	"TGFBI"	"MONDO:0007380"	"lattice corneal dystrophy type I"	"Orphanet:98964"	"Orphanet:98964"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11771"	"TGFBI"	"Orphanet:98964"	"Lattice corneal dystrophy type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12770961[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15609"	"2021-09-14"
"GENCC_000110-HGNC_11772-Orphanet_60030-HP_0000006-GENCC_100009"	"HGNC:11772"	"TGFBR1"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"Orphanet:60030"	"Orphanet:60030"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11772"	"TGFBR1"	"Orphanet:60030"	"Loeys-Dietz syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15731757[PMID]_16928994[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15610"	"2021-09-14"
"GENCC_000110-HGNC_11772-Orphanet_65748-HP_0000006-GENCC_100009"	"HGNC:11772"	"TGFBR1"	"MONDO:0007566"	"multiple self-healing squamous epithelioma"	"Orphanet:65748"	"Orphanet:65748"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11772"	"TGFBR1"	"Orphanet:65748"	"Multiple self-healing squamous epithelioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21358634[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15610"	"2021-09-14"
"GENCC_000110-HGNC_11772-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:11772"	"TGFBR1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11772"	"TGFBR1"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15610"	"2021-09-14"
"GENCC_000110-HGNC_11773-Orphanet_60030-HP_0000006-GENCC_100009"	"HGNC:11773"	"TGFBR2"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"Orphanet:60030"	"Orphanet:60030"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11773"	"TGFBR2"	"Orphanet:60030"	"Loeys-Dietz syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15731757[PMID]_16928994[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15611"	"2021-09-14"
"GENCC_000110-HGNC_11773-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:11773"	"TGFBR2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11773"	"TGFBR2"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15611"	"2021-09-14"
"GENCC_000110-HGNC_11777-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:11777"	"TGM1"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11777"	"TGM1"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22739337[PMID]_20301593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15613"	"2021-09-14"
"GENCC_000110-HGNC_11777-Orphanet_79394-HP_0000007-GENCC_100009"	"HGNC:11777"	"TGM1"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"Orphanet:79394"	"Orphanet:79394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11777"	"TGM1"	"Orphanet:79394"	"Congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12780701[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15613"	"2021-09-14"
"GENCC_000110-HGNC_11777-Orphanet_100976-HP_0000007-GENCC_100009"	"HGNC:11777"	"TGM1"	"MONDO:0015085"	"bathing suit ichthyosis"	"Orphanet:100976"	"Orphanet:100976"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11777"	"TGM1"	"Orphanet:100976"	"Bathing suit ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16968736[PMID]_20301593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15613"	"2021-09-14"
"GENCC_000110-HGNC_11777-Orphanet_281122-HP_0000007-GENCC_100009"	"HGNC:11777"	"TGM1"	"MONDO:0017267"	"self-healing collodion baby"	"Orphanet:281122"	"Orphanet:281122"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11777"	"TGM1"	"Orphanet:281122"	"Self-improving collodion baby"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12542526[PMID]_19890349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15613"	"2021-09-14"
"GENCC_000110-HGNC_11777-Orphanet_281127-HP_0000007-GENCC_100009"	"HGNC:11777"	"TGM1"	"MONDO:0017268"	"acral self-healing collodion baby"	"Orphanet:281127"	"Orphanet:281127"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11777"	"TGM1"	"Orphanet:281127"	"Acral self-healing collodion baby"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19500103[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15613"	"2021-09-14"
"GENCC_000110-HGNC_11781-Orphanet_263534-HP_0000007-GENCC_100009"	"HGNC:11781"	"TGM5"	"MONDO:0012345"	"acral peeling skin syndrome"	"Orphanet:263534"	"Orphanet:263534"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11781"	"TGM5"	"Orphanet:263534"	"Acral peeling skin syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9767297[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15614"	"2021-09-14"
"GENCC_000110-HGNC_11782-Orphanet_101150-HP_0000007-GENCC_100009"	"HGNC:11782"	"TH"	"MONDO:0011551"	"TH-deficient dopa-responsive dystonia"	"Orphanet:101150"	"Orphanet:101150"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11782"	"TH"	"Orphanet:101150"	"Autosomal recessive dopa-responsive dystonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15615"	"2021-09-14"
"GENCC_000110-HGNC_11784-Orphanet_436169-HP_0000006-GENCC_100009"	"HGNC:11784"	"THBD"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"Orphanet:436169"	"Orphanet:436169"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11784"	"THBD"	"Orphanet:436169"	"Thrombomodulin-related bleeding disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25049278[PMID]_25564403[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15616"	"2021-09-14"
"GENCC_000110-HGNC_11795-Orphanet_3319-HP_0000007-GENCC_100009"	"HGNC:11795"	"THPO"	"MONDO:0011469"	"congenital amegakaryocytic thrombocytopenia"	"Orphanet:3319"	"Orphanet:3319"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11795"	"THPO"	"Orphanet:3319"	"Congenital amegakaryocytic thrombocytopenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29191945[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15617"	"2021-09-14"
"GENCC_000110-HGNC_11795-Orphanet_71493-HP_0000006-GENCC_100009"	"HGNC:11795"	"THPO"	"MONDO:0019111"	"familial thrombocytosis"	"Orphanet:71493"	"Orphanet:71493"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11795"	"THPO"	"Orphanet:71493"	"Familial thrombocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15617"	"2021-09-14"
"GENCC_000110-HGNC_11795-Orphanet_329319-HP_0000006-GENCC_100009"	"HGNC:11795"	"THPO"	"MONDO:0018000"	"hereditary thrombocytosis with transverse limb defect"	"Orphanet:329319"	"Orphanet:329319"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11795"	"THPO"	"Orphanet:329319"	"Thrombocythemia with distal limb defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19553636[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15617"	"2021-09-14"
"GENCC_000110-HGNC_11795-Orphanet_397692-HP_0000006-GENCC_100009"	"HGNC:11795"	"THPO"	"MONDO:0018340"	"hereditary isolated aplastic anemia"	"Orphanet:397692"	"Orphanet:397692"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11795"	"THPO"	"Orphanet:397692"	"Hereditary isolated aplastic anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085763[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15617"	"2021-09-14"
"GENCC_000110-HGNC_11799-Orphanet_566243-HP_0000007-GENCC_100009"	"HGNC:11799"	"THRB"	"MONDO:0034217"	"resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"	"Orphanet:566243"	"Orphanet:566243"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11799"	"THRB"	"Orphanet:566243"	"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30976996[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15619"	"2021-09-14"
"GENCC_000110-HGNC_11817-Orphanet_52368-HP_0001417-GENCC_100009"	"HGNC:11817"	"TIMM8A"	"MONDO:0010578"	"deafness dystonia syndrome"	"Orphanet:52368"	"Orphanet:52368"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11817"	"TIMM8A"	"Orphanet:52368"	"Mohr-Tranebjaerg syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301395[PMID]_11956200[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15620"	"2021-09-14"
"GENCC_000110-HGNC_11822-Orphanet_59181-HP_0000006-GENCC_100009"	"HGNC:11822"	"TIMP3"	"MONDO:0007640"	"Sorsby fundus dystrophy"	"Orphanet:59181"	"Orphanet:59181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11822"	"TIMP3"	"Orphanet:59181"	"Sorsby pseudoinflammatory fundus dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7894485[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15621"	"2021-09-14"
"GENCC_000110-HGNC_11831-Orphanet_254875-HP_0000007-GENCC_100009"	"HGNC:11831"	"TK2"	"MONDO:0012301"	"mitochondrial DNA depletion syndrome, myopathic form"	"Orphanet:254875"	"Orphanet:254875"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11831"	"TK2"	"Orphanet:254875"	"Mitochondrial DNA depletion syndrome, myopathic form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23230576[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15623"	"2021-09-14"
"GENCC_000110-HGNC_11831-Orphanet_254886-HP_0000007-GENCC_100009"	"HGNC:11831"	"TK2"	"MONDO:0016810"	"autosomal recessive progressive external ophthalmoplegia"	"Orphanet:254886"	"Orphanet:254886"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11831"	"TK2"	"Orphanet:254886"	"Autosomal recessive progressive external ophthalmoplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21937588[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15623"	"2021-09-14"
"GENCC_000110-HGNC_16513-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:16513"	"TMC1"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16513"	"TMC1"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15626"	"2021-09-14"
"GENCC_000110-HGNC_16513-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:16513"	"TMC1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16513"	"TMC1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15626"	"2021-09-14"
"GENCC_000110-HGNC_27337-Orphanet_53697-HP_0000006-GENCC_100009"	"HGNC:27337"	"ANO5"	"MONDO:0008151"	"gnathodiaphyseal dysplasia"	"Orphanet:53697"	"Orphanet:53697"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:27337"	"ANO5"	"Orphanet:53697"	"Gnathodiaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23047743[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15628"	"2021-09-14"
"GENCC_000110-HGNC_27337-Orphanet_206549-HP_0000007-GENCC_100009"	"HGNC:27337"	"ANO5"	"MONDO:0012652"	"autosomal recessive limb-girdle muscular dystrophy type 2L"	"Orphanet:206549"	"Orphanet:206549"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27337"	"ANO5"	"Orphanet:206549"	"Anoctamin-5-related limb-girdle muscular dystrophy R12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15628"	"2021-09-14"
"GENCC_000110-HGNC_28396-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:28396"	"TMEM67"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28396"	"TMEM67"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21110233[PMID]_19466712[PMID]_17389183[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15629"	"2021-09-14"
"GENCC_000110-HGNC_28396-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:28396"	"TMEM67"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28396"	"TMEM67"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17160906[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15629"	"2021-09-14"
"GENCC_000110-HGNC_28396-Orphanet_1454-HP_0000007-GENCC_100009"	"HGNC:28396"	"TMEM67"	"MONDO:0008996"	"COACH syndrome 1"	"Orphanet:1454"	"Orphanet:1454"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28396"	"TMEM67"	"Orphanet:1454"	"Joubert syndrome with hepatic defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19574260[PMID]_17160906[PMID]_20615230[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15629"	"2021-09-14"
"GENCC_000110-HGNC_28396-Orphanet_84081-HP_0000007-GENCC_100009"	"HGNC:28396"	"TMEM67"	"MONDO:0019394"	"Senior-Boichis syndrome"	"Orphanet:84081"	"Orphanet:84081"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28396"	"TMEM67"	"Orphanet:84081"	"Senior-Boichis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19508969[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15629"	"2021-09-14"
"GENCC_000110-HGNC_30800-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:30800"	"TMIE"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30800"	"TMIE"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15630"	"2021-09-14"
"GENCC_000110-HGNC_11877-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:11877"	"TMPRSS3"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11877"	"TMPRSS3"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15631"	"2021-09-14"
"GENCC_000110-HGNC_11908-Orphanet_1782-HP_0000007-GENCC_100009"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0009138"	"dysosteosclerosis"	"Orphanet:1782"	"Orphanet:1782"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11908"	"TNFRSF11A"	"Orphanet:1782"	"Dysosteosclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29568001[PMID]_31163101[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15633"	"2021-09-14"
"GENCC_000110-HGNC_11908-Orphanet_85195-HP_0000006-GENCC_100009"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0008275"	"familial expansile osteolysis"	"Orphanet:85195"	"Orphanet:85195"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11908"	"TNFRSF11A"	"Orphanet:85195"	"Familial expansile osteolysis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10615125[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15633"	"2021-09-14"
"GENCC_000110-HGNC_11908-Orphanet_178389-HP_0000007-GENCC_100009"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0012859"	"autosomal recessive osteopetrosis 7"	"Orphanet:178389"	"Orphanet:178389"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11908"	"TNFRSF11A"	"Orphanet:178389"	"Osteopetrosis-hypogammaglobulinemia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18606301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15633"	"2021-09-14"
"GENCC_000110-HGNC_11909-Orphanet_2801-HP_0000007-GENCC_100009"	"HGNC:11909"	"TNFRSF11B"	"MONDO:0009394"	"juvenile Paget disease"	"Orphanet:2801"	"Orphanet:2801"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11909"	"TNFRSF11B"	"Orphanet:2801"	"Juvenile Paget disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12124406[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15634"	"2021-09-14"
"GENCC_000110-HGNC_18153-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:18153"	"TNFRSF13B"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18153"	"TNFRSF13B"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16007086[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15635"	"2021-09-14"
"GENCC_000110-HGNC_11916-Orphanet_32960-HP_0000006-GENCC_100009"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"Orphanet:32960"	"Orphanet:32960"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11916"	"TNFRSF1A"	"Orphanet:32960"	"Tumor necrosis factor receptor 1 associated periodic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22059991[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15636"	"2021-09-14"
"GENCC_000110-HGNC_11946-Orphanet_1146-HP_0000006-GENCC_100009"	"HGNC:11946"	"TNNI2"	"MONDO:0015240"	"digitotalar dysmorphism"	"Orphanet:1146"	"Orphanet:1146"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11946"	"TNNI2"	"Orphanet:1146"	"Distal arthrogryposis type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15637"	"2021-09-14"
"GENCC_000110-HGNC_11946-Orphanet_1147-HP_0000006-GENCC_100009"	"HGNC:11946"	"TNNI2"	"MONDO:0011128"	"Sheldon-hall syndrome"	"Orphanet:1147"	"Orphanet:1147"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11946"	"TNNI2"	"Orphanet:1147"	"Sheldon-Hall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15637"	"2021-09-14"
"GENCC_000110-HGNC_11947-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:11947"	"TNNI3"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11947"	"TNNI3"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15070570[PMID]_19590045[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15638"	"2021-09-14"
"GENCC_000110-HGNC_11947-Orphanet_75249-HP_0000006-GENCC_100009"	"HGNC:11947"	"TNNI3"	"MONDO:0019150"	"familial isolated restrictive cardiomyopathy"	"Orphanet:75249"	"Orphanet:75249"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11947"	"TNNI3"	"Orphanet:75249"	"Familial isolated restrictive cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12531876[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15638"	"2021-09-14"
"GENCC_000110-HGNC_11948-Orphanet_98902-HP_0000007-GENCC_100009"	"HGNC:11948"	"TNNT1"	"MONDO:0011539"	"nemaline myopathy 5"	"Orphanet:98902"	"Orphanet:98902"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11948"	"TNNT1"	"Orphanet:98902"	"Amish nemaline myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10952871[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15639"	"2021-09-14"
"GENCC_000110-HGNC_11949-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:11949"	"TNNT2"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11949"	"TNNT2"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11684629[PMID]_15542288[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15640"	"2021-09-14"
"GENCC_000110-HGNC_11949-Orphanet_54260-HP_0000006-GENCC_100009"	"HGNC:11949"	"TNNT2"	"MONDO:0018901"	"left ventricular noncompaction"	"Orphanet:54260"	"Orphanet:54260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11949"	"TNNT2"	"Orphanet:54260"	"Left ventricular noncompaction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20083571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15640"	"2021-09-14"
"GENCC_000110-HGNC_11949-Orphanet_75249-HP_0000006-GENCC_100009"	"HGNC:11949"	"TNNT2"	"MONDO:0019150"	"familial isolated restrictive cardiomyopathy"	"Orphanet:75249"	"Orphanet:75249"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11949"	"TNNT2"	"Orphanet:75249"	"Familial isolated restrictive cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16651346[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15640"	"2021-09-14"
"GENCC_000110-HGNC_11950-Orphanet_1146-HP_0000006-GENCC_100009"	"HGNC:11950"	"TNNT3"	"MONDO:0015240"	"digitotalar dysmorphism"	"Orphanet:1146"	"Orphanet:1146"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11950"	"TNNT3"	"Orphanet:1146"	"Distal arthrogryposis type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15641"	"2021-09-14"
"GENCC_000110-HGNC_11950-Orphanet_1147-HP_0000006-GENCC_100009"	"HGNC:11950"	"TNNT3"	"MONDO:0011128"	"Sheldon-hall syndrome"	"Orphanet:1147"	"Orphanet:1147"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11950"	"TNNT3"	"Orphanet:1147"	"Sheldon-Hall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15641"	"2021-09-14"
"GENCC_000110-HGNC_11976-Orphanet_230839-HP_0000007-GENCC_100009"	"HGNC:11976"	"TNXB"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"Orphanet:230839"	"Orphanet:230839"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11976"	"TNXB"	"Orphanet:230839"	"Classical-like Ehlers-Danlos syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11642233[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15642"	"2021-09-14"
"GENCC_000110-HGNC_11976-Orphanet_289365-HP_0000006-GENCC_100009"	"HGNC:11976"	"TNXB"	"MONDO:0017329"	"familial vesicoureteral reflux"	"Orphanet:289365"	"Orphanet:289365"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11976"	"TNXB"	"Orphanet:289365"	"Familial vesicoureteral reflux"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23620400[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15642"	"2021-09-14"
"GENCC_000110-HGNC_3098-Orphanet_256-HP_0000006-GENCC_100009"	"HGNC:3098"	"TOR1A"	"MONDO:0007492"	"early-onset generalized limb-onset dystonia"	"Orphanet:256"	"Orphanet:256"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3098"	"TOR1A"	"Orphanet:256"	"Early-onset generalized limb-onset dystonia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301665[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15643"	"2021-09-14"
"GENCC_000110-HGNC_11998-Orphanet_524-HP_0000006-GENCC_100009"	"HGNC:11998"	"TP53"	"MONDO:0018875"	"Li-Fraumeni syndrome"	"Orphanet:524"	"Orphanet:524"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11998"	"TP53"	"Orphanet:524"	"Li-Fraumeni syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301488[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15644"	"2021-09-14"
"GENCC_000110-HGNC_11998-Orphanet_251899-HP_0000006-GENCC_100009"	"HGNC:11998"	"TP53"	"MONDO:0016718"	"choroid plexus carcinoma"	"Orphanet:251899"	"Orphanet:251899"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11998"	"TP53"	"Orphanet:251899"	"Choroid plexus carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21445348[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15644"	"2021-09-14"
"GENCC_000110-HGNC_15979-Orphanet_978-HP_0000006-GENCC_100009"	"HGNC:15979"	"TP63"	"MONDO:0007072"	"ADULT syndrome"	"Orphanet:978"	"Orphanet:978"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15979"	"TP63"	"Orphanet:978"	"ADULT syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17041931[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15645"	"2021-09-14"
"GENCC_000110-HGNC_15979-Orphanet_1071-HP_0000006-GENCC_100009"	"HGNC:15979"	"TP63"	"MONDO:0007124"	"ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"	"Orphanet:1071"	"Orphanet:1071"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15979"	"TP63"	"Orphanet:1071"	"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15645"	"2021-09-14"
"GENCC_000110-HGNC_15979-Orphanet_1896-HP_0000006-GENCC_100009"	"HGNC:15979"	"TP63"	"MONDO:0010004"	"EEC syndrome"	"Orphanet:1896"	"Orphanet:1896"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15979"	"TP63"	"Orphanet:1896"	"EEC syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21959367[PMID]_24734328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15645"	"2021-09-14"
"GENCC_000110-HGNC_15979-Orphanet_2440-HP_0000006-GENCC_100009"	"HGNC:15979"	"TP63"	"MONDO:0016576"	"split hand-foot malformation"	"Orphanet:2440"	"Orphanet:2440"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15979"	"TP63"	"Orphanet:2440"	"Isolated split hand-split foot malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10839977[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15645"	"2021-09-14"
"GENCC_000110-HGNC_15979-Orphanet_69085-HP_0000006-GENCC_100009"	"HGNC:15979"	"TP63"	"MONDO:0011334"	"limb-mammary syndrome"	"Orphanet:69085"	"Orphanet:69085"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15979"	"TP63"	"Orphanet:69085"	"Limb-mammary syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11462173[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15645"	"2021-09-14"
"GENCC_000110-HGNC_12009-Orphanet_868-HP_0000007-GENCC_100009"	"HGNC:12009"	"TPI1"	"MONDO:0014221"	"triosephosphate isomerase deficiency"	"Orphanet:868"	"Orphanet:868"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12009"	"TPI1"	"Orphanet:868"	"Triose phosphate-isomerase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15646"	"2021-09-14"
"GENCC_000110-HGNC_12010-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:12010"	"TPM1"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12010"	"TPM1"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11273725[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15647"	"2021-09-14"
"GENCC_000110-HGNC_12010-Orphanet_54260-HP_0000006-GENCC_100009"	"HGNC:12010"	"TPM1"	"MONDO:0018901"	"left ventricular noncompaction"	"Orphanet:54260"	"Orphanet:54260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12010"	"TPM1"	"Orphanet:54260"	"Left ventricular noncompaction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21551322[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15647"	"2021-09-14"
"GENCC_000110-HGNC_12011-Orphanet_1146-HP_0000006-GENCC_100009"	"HGNC:12011"	"TPM2"	"MONDO:0015240"	"digitotalar dysmorphism"	"Orphanet:1146"	"Orphanet:1146"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12011"	"TPM2"	"Orphanet:1146"	"Distal arthrogryposis type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15648"	"2021-09-14"
"GENCC_000110-HGNC_12011-Orphanet_1147-HP_0000006-GENCC_100009"	"HGNC:12011"	"TPM2"	"MONDO:0011128"	"Sheldon-hall syndrome"	"Orphanet:1147"	"Orphanet:1147"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12011"	"TPM2"	"Orphanet:1147"	"Sheldon-Hall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15648"	"2021-09-14"
"GENCC_000110-HGNC_12011-Orphanet_2020-HP_0000006-GENCC_100009"	"HGNC:12011"	"TPM2"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"Orphanet:2020"	"Orphanet:2020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12011"	"TPM2"	"Orphanet:2020"	"Congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22832343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15648"	"2021-09-14"
"GENCC_000110-HGNC_12011-Orphanet_171436-HP_0000006-GENCC_100009"	"HGNC:12011"	"TPM2"	"MONDO:0015737"	"typical nemaline myopathy"	"Orphanet:171436"	"Orphanet:171436"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12011"	"TPM2"	"Orphanet:171436"	"Typical nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15648"	"2021-09-14"
"GENCC_000110-HGNC_12011-Orphanet_171439-HP_0000006-GENCC_100009"	"HGNC:12011"	"TPM2"	"MONDO:0015738"	"childhood-onset nemaline myopathy"	"Orphanet:171439"	"Orphanet:171439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12011"	"TPM2"	"Orphanet:171439"	"Childhood-onset nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23378224[PMID]_23413262[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15648"	"2021-09-14"
"GENCC_000110-HGNC_12011-Orphanet_171881-HP_0000006-GENCC_100009"	"HGNC:12011"	"TPM2"	"MONDO:0015753"	"cap myopathy"	"Orphanet:171881"	"Orphanet:171881"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12011"	"TPM2"	"Orphanet:171881"	"Cap myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301465[PMID]_17846275[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15648"	"2021-09-14"
"GENCC_000110-HGNC_12012-Orphanet_2020-HP_0000006-GENCC_100009"	"HGNC:12012"	"TPM3"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"Orphanet:2020"	"Orphanet:2020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12012"	"TPM3"	"Orphanet:2020"	"Congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15649"	"2021-09-14"
"GENCC_000110-HGNC_12012-Orphanet_171433-HP_0000006-GENCC_100009"	"HGNC:12012"	"TPM3"	"MONDO:0015736"	"intermediate nemaline myopathy"	"Orphanet:171433"	"Orphanet:171433"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12012"	"TPM3"	"Orphanet:171433"	"Intermediate nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18382475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15649"	"2021-09-14"
"GENCC_000110-HGNC_12012-Orphanet_171439-HP_0000006-GENCC_100009"	"HGNC:12012"	"TPM3"	"MONDO:0015738"	"childhood-onset nemaline myopathy"	"Orphanet:171439"	"Orphanet:171439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12012"	"TPM3"	"Orphanet:171439"	"Childhood-onset nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7704029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15649"	"2021-09-14"
"GENCC_000110-HGNC_12012-Orphanet_171881-HP_0000006-GENCC_100009"	"HGNC:12012"	"TPM3"	"MONDO:0015753"	"cap myopathy"	"Orphanet:171881"	"Orphanet:171881"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12012"	"TPM3"	"Orphanet:171881"	"Cap myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20554445[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15649"	"2021-09-14"
"GENCC_000110-HGNC_12012-Orphanet_476406-HP_0000006-GENCC_100009"	"HGNC:12012"	"TPM3"	"MONDO:0018780"	"congenital generalized hypercontractile muscle stiffness syndrome"	"Orphanet:476406"	"Orphanet:476406"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12012"	"TPM3"	"Orphanet:476406"	"Congenital generalized hypercontractile muscle stiffness syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26418456[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15649"	"2021-09-14"
"GENCC_000110-HGNC_12015-Orphanet_95716-HP_0000007-GENCC_100009"	"HGNC:12015"	"TPO"	"MONDO:0010132"	"familial thyroid dyshormonogenesis"	"Orphanet:95716"	"Orphanet:95716"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12015"	"TPO"	"Orphanet:95716"	"Familial thyroid dyshormonogenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_21543982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15651"	"2021-09-14"
"GENCC_000110-HGNC_2073-Orphanet_228349-HP_0000007-GENCC_100009"	"HGNC:2073"	"TPP1"	"MONDO:0008769"	"neuronal ceroid lipofuscinosis 2"	"Orphanet:228349"	"Orphanet:228349"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2073"	"TPP1"	"Orphanet:228349"	"CLN2 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15652"	"2021-09-14"
"GENCC_000110-HGNC_2073-Orphanet_284324-HP_0000007-GENCC_100009"	"HGNC:2073"	"TPP1"	"MONDO:0012235"	"autosomal recessive spinocerebellar ataxia 7"	"Orphanet:284324"	"Orphanet:284324"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2073"	"TPP1"	"Orphanet:284324"	"Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23418007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15652"	"2021-09-14"
"GENCC_000110-HGNC_23068-Orphanet_93284-HP_0000006-GENCC_100009"	"HGNC:23068"	"TRAPPC2"	"MONDO:0019667"	"spondyloepiphyseal dysplasia tarda"	"Orphanet:93284"	"Orphanet:93284"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23068"	"TRAPPC2"	"Orphanet:93284"	"Spondyloepiphyseal dysplasia tarda"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301324[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15654"	"2021-09-14"
"GENCC_000110-HGNC_17761-Orphanet_2770-HP_0000007-GENCC_100009"	"HGNC:17761"	"TREM2"	"MONDO:0009092"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"	"Orphanet:2770"	"Orphanet:2770"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17761"	"TREM2"	"Orphanet:2770"	"Nasu-Hakola disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301376[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15655"	"2021-09-14"
"GENCC_000110-HGNC_12269-Orphanet_51-HP_0000006-GENCC_100009"	"HGNC:12269"	"TREX1"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"Orphanet:51"	"Orphanet:51"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12269"	"TREX1"	"Orphanet:51"	"Aicardi-GoutiÞres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301648[PMID]_16845398[PMID]_17357087[PMID]_20799324[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15656"	"2021-09-14"
"GENCC_000110-HGNC_12269-Orphanet_247691-HP_0000006-GENCC_100009"	"HGNC:12269"	"TREX1"	"MONDO:0008641"	"retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"	"Orphanet:247691"	"Orphanet:247691"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12269"	"TREX1"	"Orphanet:247691"	"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17660820[PMID]_18583934[PMID]_20876473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15656"	"2021-09-14"
"GENCC_000110-HGNC_12269-Orphanet_481662-HP_0000006-GENCC_100009"	"HGNC:12269"	"TREX1"	"MONDO:0018827"	"familial chilblain lupus"	"Orphanet:481662"	"Orphanet:481662"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12269"	"TREX1"	"Orphanet:481662"	"Familial Chilblain lupus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27566796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15656"	"2021-09-14"
"GENCC_000110-HGNC_12299-Orphanet_99832-HP_0000007-GENCC_100009"	"HGNC:12299"	"TRHR"	"MONDO:0020503"	"resistance to thyrotropin-releasing hormone syndrome"	"Orphanet:99832"	"Orphanet:99832"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12299"	"TRHR"	"Orphanet:99832"	"Resistance to thyrotropin-releasing hormone syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_22851492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15658"	"2021-09-14"
"GENCC_000110-HGNC_16380-Orphanet_1878-HP_0000007-GENCC_100009"	"HGNC:16380"	"TRIM32"	"MONDO:0009683"	"autosomal recessive limb-girdle muscular dystrophy type 2H"	"Orphanet:1878"	"Orphanet:1878"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16380"	"TRIM32"	"Orphanet:1878"	"TRIM32-related limb-girdle muscular dystrophy R8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15661"	"2021-09-14"
"GENCC_000110-HGNC_16380-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:16380"	"TRIM32"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16380"	"TRIM32"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15661"	"2021-09-14"
"GENCC_000110-HGNC_7523-Orphanet_2576-HP_0000007-GENCC_100009"	"HGNC:7523"	"TRIM37"	"MONDO:0009664"	"mulibrey nanism"	"Orphanet:2576"	"Orphanet:2576"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7523"	"TRIM37"	"Orphanet:2576"	"Mulibrey nanism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19347900[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15663"	"2021-09-14"
"GENCC_000110-HGNC_25481-Orphanet_217371-HP_0000007-GENCC_100009"	"HGNC:25481"	"TRMU"	"MONDO:0013111"	"acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"	"Orphanet:217371"	"Orphanet:217371"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25481"	"TRMU"	"Orphanet:217371"	"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19732863[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15664"	"2021-09-14"
"GENCC_000110-HGNC_25481-Orphanet_254864-HP_0001427-GENCC_100009"	"HGNC:25481"	"TRMU"	"MONDO:0010780"	"mitochondrial myopathy with reversible cytochrome C oxidase deficiency"	"Orphanet:254864"	"Orphanet:254864"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:25481"	"TRMU"	"Orphanet:254864"	"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21931168[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15664"	"2021-09-14"
"GENCC_000110-HGNC_12338-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:12338"	"TRPC6"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12338"	"TRPC6"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15879175[PMID]_15924139[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15665"	"2021-09-14"
"GENCC_000110-HGNC_17995-Orphanet_30924-HP_0000007-GENCC_100009"	"HGNC:17995"	"TRPM6"	"MONDO:0011176"	"intestinal hypomagnesemia 1"	"Orphanet:30924"	"Orphanet:30924"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17995"	"TRPM6"	"Orphanet:30924"	"Primary hypomagnesemia with secondary hypocalcemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12032570[PMID]_12032568[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15666"	"2021-09-14"
"GENCC_000110-HGNC_12340-Orphanet_77258-HP_0000006-GENCC_100009"	"HGNC:12340"	"TRPS1"	"MONDO:0019176"	"trichorhinophalangeal syndrome type I or III"	"Orphanet:77258"	"Orphanet:77258"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12340"	"TRPS1"	"Orphanet:77258"	"Trichorhinophalangeal syndrome type 1 and 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15667"	"2021-09-14"
"GENCC_000110-HGNC_12362-Orphanet_805-HP_0000006-GENCC_100009"	"HGNC:12362"	"TSC1"	"MONDO:0019341"	"tuberous sclerosis complex"	"Orphanet:805"	"Orphanet:805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12362"	"TSC1"	"Orphanet:805"	"Tuberous sclerosis complex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301399[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15668"	"2021-09-14"
"GENCC_000110-HGNC_12363-Orphanet_805-HP_0000006-GENCC_100009"	"HGNC:12363"	"TSC2"	"MONDO:0019341"	"tuberous sclerosis complex"	"Orphanet:805"	"Orphanet:805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12363"	"TSC2"	"Orphanet:805"	"Tuberous sclerosis complex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301399[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15669"	"2021-09-14"
"GENCC_000110-HGNC_12373-Orphanet_424-HP_0000006-GENCC_100009"	"HGNC:12373"	"TSHR"	"MONDO:0012203"	"familial hyperthyroidism due to mutations in TSH receptor"	"Orphanet:424"	"Orphanet:424"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12373"	"TSHR"	"Orphanet:424"	"Familial hyperthyroidism due to mutations in TSH receptor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24947036[PMID]_23295291[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15670"	"2021-09-14"
"GENCC_000110-HGNC_12373-Orphanet_90673-HP_0000006-GENCC_100009"	"HGNC:12373"	"TSHR"	"MONDO:0010142"	"hypothyroidism due to TSH receptor mutations"	"Orphanet:90673"	"Orphanet:90673"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12373"	"TSHR"	"Orphanet:90673"	"Hypothyroidism due to TSH receptor mutations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19158199[PMID]_20537182[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15670"	"2021-09-14"
"GENCC_000110-HGNC_12373-Orphanet_95713-HP_0000006-GENCC_100009"	"HGNC:12373"	"TSHR"	"MONDO:0019855"	"athyreosis"	"Orphanet:95713"	"Orphanet:95713"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12373"	"TSHR"	"Orphanet:95713"	"Athyreosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14725684[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15670"	"2021-09-14"
"GENCC_000110-HGNC_12373-Orphanet_95720-HP_0000006-GENCC_100009"	"HGNC:12373"	"TSHR"	"MONDO:0019861"	"thyroid hypoplasia"	"Orphanet:95720"	"Orphanet:95720"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12373"	"TSHR"	"Orphanet:95720"	"Thyroid hypoplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25153578[PMID]_25905381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15670"	"2021-09-14"
"GENCC_000110-HGNC_12373-Orphanet_99819-HP_0000006-GENCC_100009"	"HGNC:12373"	"TSHR"	"MONDO:0011309"	"familial gestational hyperthyroidism"	"Orphanet:99819"	"Orphanet:99819"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12373"	"TSHR"	"Orphanet:99819"	"Familial gestational hyperthyroidism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9854118[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15670"	"2021-09-14"
"GENCC_000110-HGNC_20087-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:20087"	"TTC8"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20087"	"TTC8"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15671"	"2021-09-14"
"GENCC_000110-HGNC_20087-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:20087"	"TTC8"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20087"	"TTC8"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15671"	"2021-09-14"
"GENCC_000110-HGNC_12403-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:12403"	"TTN"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12403"	"TTN"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11788824[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15672"	"2021-09-14"
"GENCC_000110-HGNC_12403-Orphanet_609-HP_0000006-GENCC_100009"	"HGNC:12403"	"TTN"	"MONDO:0010870"	"tibial muscular dystrophy"	"Orphanet:609"	"Orphanet:609"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12403"	"TTN"	"Orphanet:609"	"Tibial muscular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301498[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15672"	"2021-09-14"
"GENCC_000110-HGNC_12403-Orphanet_140922-HP_0000007-GENCC_100009"	"HGNC:12403"	"TTN"	"MONDO:0012127"	"autosomal recessive limb-girdle muscular dystrophy type 2J"	"Orphanet:140922"	"Orphanet:140922"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12403"	"TTN"	"Orphanet:140922"	"Titin-related limb-girdle muscular dystrophy R10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15672"	"2021-09-14"
"GENCC_000110-HGNC_12403-Orphanet_169186-HP_0000007-GENCC_100009"	"HGNC:12403"	"TTN"	"MONDO:0015705"	"autosomal recessive centronuclear myopathy"	"Orphanet:169186"	"Orphanet:169186"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12403"	"TTN"	"Orphanet:169186"	"Autosomal recessive centronuclear myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23975875[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15672"	"2021-09-14"
"GENCC_000110-HGNC_12403-Orphanet_178464-HP_0000006-GENCC_100009"	"HGNC:12403"	"TTN"	"MONDO:0011362"	"myopathy, myofibrillar, 9, with early respiratory failure"	"Orphanet:178464"	"Orphanet:178464"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12403"	"TTN"	"Orphanet:178464"	"Hereditary myopathy with early respiratory failure"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24575448[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15672"	"2021-09-14"
"GENCC_000110-HGNC_12403-Orphanet_289377-HP_0000007-GENCC_100009"	"HGNC:12403"	"TTN"	"MONDO:0012714"	"early-onset myopathy with fatal cardiomyopathy"	"Orphanet:289377"	"Orphanet:289377"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12403"	"TTN"	"Orphanet:289377"	"Early-onset myopathy with fatal cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17444505[PMID]_22238790[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15672"	"2021-09-14"
"GENCC_000110-HGNC_12403-Orphanet_466921-HP_0000007-GENCC_100009"	"HGNC:12403"	"TTN"	"MONDO:0018759"	"childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"	"Orphanet:466921"	"Orphanet:466921"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12403"	"TTN"	"Orphanet:466921"	"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26581302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15672"	"2021-09-14"
"GENCC_000110-HGNC_12404-Orphanet_96-HP_0000007-GENCC_100009"	"HGNC:12404"	"TTPA"	"MONDO:0010188"	"familial isolated deficiency of vitamin E"	"Orphanet:96"	"Orphanet:96"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12404"	"TTPA"	"Orphanet:96"	"Ataxia with vitamin E deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15673"	"2021-09-14"
"GENCC_000110-HGNC_12405-Orphanet_85447-HP_0000006-GENCC_100009"	"HGNC:12405"	"TTR"	"MONDO:0007100"	"familial amyloid neuropathy"	"Orphanet:85447"	"Orphanet:85447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12405"	"TTR"	"Orphanet:85447"	"ATTRV30M amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18925456[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15674"	"2021-09-14"
"GENCC_000110-HGNC_12405-Orphanet_85451-HP_0000006-GENCC_100009"	"HGNC:12405"	"TTR"	"MONDO:0019441"	"ATTRV122I amyloidosis"	"Orphanet:85451"	"Orphanet:85451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12405"	"TTR"	"Orphanet:85451"	"ATTRV122I amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11752443[PMID]_25551524[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15674"	"2021-09-14"
"GENCC_000110-HGNC_12423-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:12423"	"TULP1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12423"	"TULP1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15675"	"2021-09-14"
"GENCC_000110-HGNC_12423-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:12423"	"TULP1"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12423"	"TULP1"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17962469[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15675"	"2021-09-14"
"GENCC_000110-HGNC_12428-Orphanet_794-HP_0000006-GENCC_100009"	"HGNC:12428"	"TWIST1"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"Orphanet:794"	"Orphanet:794"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12428"	"TWIST1"	"Orphanet:794"	"Saethre-Chotzen syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9585583[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15676"	"2021-09-14"
"GENCC_000110-HGNC_12428-Orphanet_35093-HP_0000006-GENCC_100009"	"HGNC:12428"	"TWIST1"	"MONDO:0018112"	"isolated scaphocephaly"	"Orphanet:35093"	"Orphanet:35093"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12428"	"TWIST1"	"Orphanet:35093"	"Isolated scaphocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17343269[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15676"	"2021-09-14"
"GENCC_000110-HGNC_12428-Orphanet_35098-HP_0000006-GENCC_100009"	"HGNC:12428"	"TWIST1"	"MONDO:0018113"	"isolated plagiocephaly"	"Orphanet:35098"	"Orphanet:35098"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12428"	"TWIST1"	"Orphanet:35098"	"Isolated plagiocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17343269[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15676"	"2021-09-14"
"GENCC_000110-HGNC_12428-Orphanet_35099-HP_0000006-GENCC_100009"	"HGNC:12428"	"TWIST1"	"MONDO:0018114"	"isolated brachycephaly"	"Orphanet:35099"	"Orphanet:35099"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12428"	"TWIST1"	"Orphanet:35099"	"Isolated brachycephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17343269[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15676"	"2021-09-14"
"GENCC_000110-HGNC_12442-Orphanet_79431-HP_0000007-GENCC_100009"	"HGNC:12442"	"TYR"	"MONDO:0008745"	"oculocutaneous albinism type 1A"	"Orphanet:79431"	"Orphanet:79431"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12442"	"TYR"	"Orphanet:79431"	"Oculocutaneous albinism type 1A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301345[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15677"	"2021-09-14"
"GENCC_000110-HGNC_12442-Orphanet_79434-HP_0000007-GENCC_100009"	"HGNC:12442"	"TYR"	"MONDO:0011749"	"oculocutaneous albinism type 1B"	"Orphanet:79434"	"Orphanet:79434"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12442"	"TYR"	"Orphanet:79434"	"Oculocutaneous albinism type 1B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301345[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15677"	"2021-09-14"
"GENCC_000110-HGNC_12442-Orphanet_352734-HP_0000007-GENCC_100009"	"HGNC:12442"	"TYR"	"MONDO:0018136"	"minimal pigment oculocutaneous albinism type 1"	"Orphanet:352734"	"Orphanet:352734"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12442"	"TYR"	"Orphanet:352734"	"Minimal pigment oculocutaneous albinism type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301345[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15677"	"2021-09-14"
"GENCC_000110-HGNC_12442-Orphanet_352737-HP_0000007-GENCC_100009"	"HGNC:12442"	"TYR"	"MONDO:0018137"	"temperature-sensitive oculocutaneous albinism type 1"	"Orphanet:352737"	"Orphanet:352737"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12442"	"TYR"	"Orphanet:352737"	"Temperature-sensitive oculocutaneous albinism type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301345[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15677"	"2021-09-14"
"GENCC_000110-HGNC_12449-Orphanet_2770-HP_0000007-GENCC_100009"	"HGNC:12449"	"TYROBP"	"MONDO:0009092"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"	"Orphanet:2770"	"Orphanet:2770"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12449"	"TYROBP"	"Orphanet:2770"	"Nasu-Hakola disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301376[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15678"	"2021-09-14"
"GENCC_000110-HGNC_12450-Orphanet_79433-HP_0000007-GENCC_100009"	"HGNC:12450"	"TYRP1"	"MONDO:0008747"	"oculocutaneous albinism type 3"	"Orphanet:79433"	"Orphanet:79433"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12450"	"TYRP1"	"Orphanet:79433"	"Oculocutaneous albinism type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15679"	"2021-09-14"
"GENCC_000110-HGNC_16808-Orphanet_2315-HP_0000007-GENCC_100009"	"HGNC:16808"	"UBR1"	"MONDO:0009479"	"Johanson-Blizzard syndrome"	"Orphanet:2315"	"Orphanet:2315"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16808"	"UBR1"	"Orphanet:2315"	"Johanson-Blizzard syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21931868[PMID]_16311597[PMID]_23652379[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15681"	"2021-09-14"
"GENCC_000110-HGNC_12513-Orphanet_352654-HP_0000007-GENCC_100009"	"HGNC:12513"	"UCHL1"	"MONDO:0014209"	"early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"	"Orphanet:352654"	"Orphanet:352654"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12513"	"UCHL1"	"Orphanet:352654"	"Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23359680[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15682"	"2021-09-14"
"GENCC_000110-HGNC_12530-Orphanet_79234-HP_0000007-GENCC_100009"	"HGNC:12530"	"UGT1A1"	"MONDO:0021020"	"Crigler-Najjar syndrome type 1"	"Orphanet:79234"	"Orphanet:79234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12530"	"UGT1A1"	"Orphanet:79234"	"Crigler-Najjar syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9039987[PMID]_9497253[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15683"	"2021-09-14"
"GENCC_000110-HGNC_12530-Orphanet_79235-HP_0000007-GENCC_100009"	"HGNC:12530"	"UGT1A1"	"MONDO:0011725"	"Crigler-Najjar syndrome type 2"	"Orphanet:79235"	"Orphanet:79235"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12530"	"UGT1A1"	"Orphanet:79235"	"Crigler-Najjar syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16456422[PMID]_17098698[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15683"	"2021-09-14"
"GENCC_000110-HGNC_12559-Orphanet_88950-HP_0000006-GENCC_100009"	"HGNC:12559"	"UMOD"	"MONDO:0019511"	"autosomal dominant medullary cystic kidney disease with hyperuricemia"	"Orphanet:88950"	"Orphanet:88950"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12559"	"UMOD"	"Orphanet:88950"	"UMOD-related autosomal dominant tubulointerstitial kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301530[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15692"	"2021-09-14"
"GENCC_000110-HGNC_12563-Orphanet_30-HP_0000007-GENCC_100009"	"HGNC:12563"	"UMPS"	"MONDO:0009797"	"orotic aciduria"	"Orphanet:30"	"Orphanet:30"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12563"	"UMPS"	"Orphanet:30"	"Hereditary orotic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9042911[PMID]_19562503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15693"	"2021-09-14"
"GENCC_000110-HGNC_23147-Orphanet_540-HP_0000007-GENCC_100009"	"HGNC:23147"	"UNC13D"	"MONDO:0015541"	"hereditary hemophagocytic lymphohistiocytosis"	"Orphanet:540"	"Orphanet:540"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23147"	"UNC13D"	"Orphanet:540"	"Familial hemophagocytic lymphohistiocytosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11179007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15694"	"2021-09-14"
"GENCC_000110-HGNC_16297-Orphanet_65287-HP_0000007-GENCC_100009"	"HGNC:16297"	"UPB1"	"MONDO:0013164"	"beta-ureidopropionase deficiency"	"Orphanet:65287"	"Orphanet:65287"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16297"	"UPB1"	"Orphanet:65287"	"Beta-ureidopropionase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15385443[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15697"	"2021-09-14"
"GENCC_000110-HGNC_12591-Orphanet_95159-HP_0000007-GENCC_100009"	"HGNC:12591"	"UROD"	"MONDO:0019799"	"hepatoerythropoietic porphyria"	"Orphanet:95159"	"Orphanet:95159"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12591"	"UROD"	"Orphanet:95159"	"Hepatoerythropoietic porphyria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24175354[PMID]_21668429[PMID]_17240319[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15698"	"2021-09-14"
"GENCC_000110-HGNC_12591-Orphanet_443062-HP_0000006-GENCC_100009"	"HGNC:12591"	"UROD"	"MONDO:0008296"	"familial porphyria cutanea tarda"	"Orphanet:443062"	"Orphanet:443062"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12591"	"UROD"	"Orphanet:443062"	"Familial porphyria cutanea tarda"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23741761[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15698"	"2021-09-14"
"GENCC_000110-HGNC_12592-Orphanet_79277-HP_0000007-GENCC_100009"	"HGNC:12592"	"UROS"	"MONDO:0009902"	"cutaneous porphyria"	"Orphanet:79277"	"Orphanet:79277"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12592"	"UROS"	"Orphanet:79277"	"Congenital erythropoietic porphyria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24027798[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15699"	"2021-09-14"
"GENCC_000110-HGNC_12597-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:12597"	"USH1C"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12597"	"USH1C"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15700"	"2021-09-14"
"GENCC_000110-HGNC_12597-Orphanet_231169-HP_0000007-GENCC_100009"	"HGNC:12597"	"USH1C"	"MONDO:0010168"	"Usher syndrome type 1"	"Orphanet:231169"	"Orphanet:231169"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12597"	"USH1C"	"Orphanet:231169"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15700"	"2021-09-14"
"GENCC_000110-HGNC_16356-Orphanet_231169-HP_0000007-GENCC_100009"	"HGNC:16356"	"USH1G"	"MONDO:0010168"	"Usher syndrome type 1"	"Orphanet:231169"	"Orphanet:231169"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16356"	"USH1G"	"Orphanet:231169"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15701"	"2021-09-14"
"GENCC_000110-HGNC_12601-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:12601"	"USH2A"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12601"	"USH2A"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15702"	"2021-09-14"
"GENCC_000110-HGNC_12601-Orphanet_231178-HP_0000007-GENCC_100009"	"HGNC:12601"	"USH2A"	"MONDO:0016484"	"Usher syndrome type 2"	"Orphanet:231178"	"Orphanet:231178"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12601"	"USH2A"	"Orphanet:231178"	"Usher syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15702"	"2021-09-14"
"GENCC_000110-HGNC_12649-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:12649"	"VAPB"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12649"	"VAPB"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301623[PMID]_23941283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15704"	"2021-09-14"
"GENCC_000110-HGNC_12649-Orphanet_209335-HP_0000006-GENCC_100009"	"HGNC:12649"	"VAPB"	"MONDO:0008453"	"adult-onset proximal spinal muscular atrophy, autosomal dominant"	"Orphanet:209335"	"Orphanet:209335"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12649"	"VAPB"	"Orphanet:209335"	"Autosomal dominant adult-onset proximal spinal muscular atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15372378[PMID]_24212516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15704"	"2021-09-14"
"GENCC_000110-HGNC_2464-Orphanet_898-HP_0000006-GENCC_100009"	"HGNC:2464"	"VCAN"	"MONDO:0007740"	"Wagner disease"	"Orphanet:898"	"Orphanet:898"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2464"	"VCAN"	"Orphanet:898"	"Wagner disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301747[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15705"	"2021-09-14"
"GENCC_000110-HGNC_12666-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:12666"	"VCP"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12666"	"VCP"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15706"	"2021-09-14"
"GENCC_000110-HGNC_12666-Orphanet_52430-HP_0000006-GENCC_100009"	"HGNC:12666"	"VCP"	"MONDO:0000507"	"inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"Orphanet:52430"	"Orphanet:52430"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12666"	"VCP"	"Orphanet:52430"	"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15034582[PMID]_20301649[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15706"	"2021-09-14"
"GENCC_000110-HGNC_12666-Orphanet_275872-HP_0000006-GENCC_100009"	"HGNC:12666"	"VCP"	"MONDO:0017161"	"frontotemporal dementia with motor neuron disease"	"Orphanet:275872"	"Orphanet:275872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12666"	"VCP"	"Orphanet:275872"	"Frontotemporal dementia with motor neuron disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21145000[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15706"	"2021-09-14"
"GENCC_000110-HGNC_12666-Orphanet_329475-HP_0000006-GENCC_100009"	"HGNC:12666"	"VCP"	"MONDO:0018005"	"spastic paraplegia-Paget disease of bone syndrome"	"Orphanet:329475"	"Orphanet:329475"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12666"	"VCP"	"Orphanet:329475"	"Spastic paraplegia-Paget disease of bone syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22991237[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15706"	"2021-09-14"
"GENCC_000110-HGNC_12666-Orphanet_329478-HP_0000006-GENCC_100009"	"HGNC:12666"	"VCP"	"MONDO:0018006"	"adult-onset distal myopathy due to VCP mutation"	"Orphanet:329478"	"Orphanet:329478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12666"	"VCP"	"Orphanet:329478"	"Adult-onset distal myopathy due to VCP mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21684747[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15706"	"2021-09-14"
"GENCC_000110-HGNC_12666-Orphanet_435387-HP_0000006-GENCC_100009"	"HGNC:12666"	"VCP"	"MONDO:0014735"	"Charcot-Marie-Tooth disease type 2Y"	"Orphanet:435387"	"Orphanet:435387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12666"	"VCP"	"Orphanet:435387"	"Autosomal dominant Charcot-Marie-Tooth disease type 2Y"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25125609[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15706"	"2021-09-14"
"GENCC_000110-HGNC_12679-Orphanet_93160-HP_0000007-GENCC_100009"	"HGNC:12679"	"VDR"	"MONDO:0019642"	"vitamin D-dependent rickets, type 2"	"Orphanet:93160"	"Orphanet:93160"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12679"	"VDR"	"Orphanet:93160"	"Hypocalcemic vitamin D-resistant rickets"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9284761[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15707"	"2021-09-14"
"GENCC_000110-HGNC_12687-Orphanet_892-HP_0000006-GENCC_100009"	"HGNC:12687"	"VHL"	"MONDO:0008667"	"von Hippel-Lindau disease"	"Orphanet:892"	"Orphanet:892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12687"	"VHL"	"Orphanet:892"	"Von Hippel-Lindau disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15708"	"2021-09-14"
"GENCC_000110-HGNC_12687-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:12687"	"VHL"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12687"	"VHL"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9215674[PMID]_19574279[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15708"	"2021-09-14"
"GENCC_000110-HGNC_12687-Orphanet_238557-HP_0000007-GENCC_100009"	"HGNC:12687"	"VHL"	"MONDO:0009892"	"Chuvash polycythemia"	"Orphanet:238557"	"Orphanet:238557"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12687"	"VHL"	"Orphanet:238557"	"Chuvash erythrocytosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11987242[PMID]_24115288[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15708"	"2021-09-14"
"GENCC_000110-HGNC_12698-Orphanet_1766-HP_0000007-GENCC_100009"	"HGNC:12698"	"VLDLR"	"MONDO:0009133"	"cerebellar ataxia, intellectual disability, and dysequilibrium"	"Orphanet:1766"	"Orphanet:1766"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12698"	"VLDLR"	"Orphanet:1766"	"Dysequilibrium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21885617[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15709"	"2021-09-14"
"GENCC_000110-HGNC_1908-Orphanet_2388-HP_0000007-GENCC_100009"	"HGNC:1908"	"VPS13A"	"MONDO:0008695"	"chorea-acanthocytosis"	"Orphanet:2388"	"Orphanet:2388"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1908"	"VPS13A"	"Orphanet:2388"	"Choreoacanthocytosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301561[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15710"	"2021-09-14"
"GENCC_000110-HGNC_2183-Orphanet_193-HP_0000007-GENCC_100009"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"Orphanet:193"	"Orphanet:193"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2183"	"VPS13B"	"Orphanet:193"	"Cohen syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15711"	"2021-09-14"
"GENCC_000110-HGNC_12712-Orphanet_2697-HP_0000007-GENCC_100009"	"HGNC:12712"	"VPS33B"	"MONDO:0017123"	"arthrogryposis-renal dysfunction-cholestasis syndrome"	"Orphanet:2697"	"Orphanet:2697"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12712"	"VPS33B"	"Orphanet:2697"	"Arthrogryposis-renal dysfunction-cholestasis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25239142[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15712"	"2021-09-14"
"GENCC_000110-HGNC_12723-Orphanet_98973-HP_0000006-GENCC_100009"	"HGNC:12723"	"VSX1"	"MONDO:0020364"	"posterior polymorphous corneal dystrophy"	"Orphanet:98973"	"Orphanet:98973"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12723"	"VSX1"	"Orphanet:98973"	"Posterior polymorphous corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11978762[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15713"	"2021-09-14"
"GENCC_000110-HGNC_12726-Orphanet_166078-HP_0000006-GENCC_100009"	"HGNC:12726"	"VWF"	"MONDO:0008668"	"von Willebrand disease 1"	"Orphanet:166078"	"Orphanet:166078"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12726"	"VWF"	"Orphanet:166078"	"Von Willebrand disease type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15714"	"2021-09-14"
"GENCC_000110-HGNC_12726-Orphanet_166084-HP_0000006-GENCC_100009"	"HGNC:12726"	"VWF"	"MONDO:0015628"	"von Willebrand disease type 2A"	"Orphanet:166084"	"Orphanet:166084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12726"	"VWF"	"Orphanet:166084"	"Von Willebrand disease type 2A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15714"	"2021-09-14"
"GENCC_000110-HGNC_12726-Orphanet_166087-HP_0000006-GENCC_100009"	"HGNC:12726"	"VWF"	"MONDO:0015629"	"von Willebrand disease type 2B"	"Orphanet:166087"	"Orphanet:166087"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12726"	"VWF"	"Orphanet:166087"	"Von Willebrand disease type 2B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15714"	"2021-09-14"
"GENCC_000110-HGNC_12726-Orphanet_166090-HP_0000006-GENCC_100009"	"HGNC:12726"	"VWF"	"MONDO:0015630"	"von Willebrand disease type 2M"	"Orphanet:166090"	"Orphanet:166090"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12726"	"VWF"	"Orphanet:166090"	"Von Willebrand disease type 2M"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15714"	"2021-09-14"
"GENCC_000110-HGNC_12726-Orphanet_166093-HP_0000007-GENCC_100009"	"HGNC:12726"	"VWF"	"MONDO:0015631"	"von Willebrand disease type 2N"	"Orphanet:166093"	"Orphanet:166093"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12726"	"VWF"	"Orphanet:166093"	"Von Willebrand disease type 2N"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15714"	"2021-09-14"
"GENCC_000110-HGNC_12726-Orphanet_166096-HP_0000007-GENCC_100009"	"HGNC:12726"	"VWF"	"MONDO:0010191"	"von Willebrand disease 3"	"Orphanet:166096"	"Orphanet:166096"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12726"	"VWF"	"Orphanet:166096"	"Von Willebrand disease type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15714"	"2021-09-14"
"GENCC_000110-HGNC_12731-Orphanet_906-HP_0000006-GENCC_100009"	"HGNC:12731"	"WAS"	"MONDO:0010518"	"Wiskott-Aldrich syndrome"	"Orphanet:906"	"Orphanet:906"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12731"	"WAS"	"Orphanet:906"	"Wiskott-Aldrich syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15715"	"2021-09-14"
"GENCC_000110-HGNC_12731-Orphanet_852-HP_0001417-GENCC_100009"	"HGNC:12731"	"WAS"	"MONDO:0010743"	"thrombocytopenia 1"	"Orphanet:852"	"Orphanet:852"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:12731"	"WAS"	"Orphanet:852"	"X-linked thrombocytopenia with normal platelets"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301357[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15715"	"2021-09-14"
"GENCC_000110-HGNC_12731-Orphanet_86788-HP_0001417-GENCC_100009"	"HGNC:12731"	"WAS"	"MONDO:0010294"	"X-linked severe congenital neutropenia"	"Orphanet:86788"	"Orphanet:86788"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:12731"	"WAS"	"Orphanet:86788"	"X-linked severe congenital neutropenia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11242115[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15715"	"2021-09-14"
"GENCC_000110-HGNC_12762-Orphanet_3463-HP_0000007-GENCC_100009"	"HGNC:12762"	"WFS1"	"MONDO:0018105"	"Wolfram syndrome"	"Orphanet:3463"	"Orphanet:3463"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12762"	"WFS1"	"Orphanet:3463"	"Wolfram syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16806192[PMID]_12913071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15721"	"2021-09-14"
"GENCC_000110-HGNC_12762-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:12762"	"WFS1"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12762"	"WFS1"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15721"	"2021-09-14"
"GENCC_000110-HGNC_12762-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:12762"	"WFS1"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12762"	"WFS1"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23531866[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15721"	"2021-09-14"
"GENCC_000110-HGNC_12762-Orphanet_411590-HP_0000006-GENCC_100009"	"HGNC:12762"	"WFS1"	"MONDO:0013673"	"Wolfram-like syndrome"	"Orphanet:411590"	"Orphanet:411590"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12762"	"WFS1"	"Orphanet:411590"	"Wolfram-like syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20069065[PMID]_20301750[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15721"	"2021-09-14"
"GENCC_000110-HGNC_12771-Orphanet_1159-HP_0000007-GENCC_100009"	"HGNC:12771"	"CCN6"	"MONDO:0008827"	"progressive pseudorheumatoid arthropathy of childhood"	"Orphanet:1159"	"Orphanet:1159"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12771"	"CCN6"	"Orphanet:1159"	"Progressive pseudorheumatoid arthropathy of childhood"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10471507[PMID]_22987568[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15724"	"2021-09-14"
"GENCC_000110-HGNC_14540-Orphanet_970-HP_0000007-GENCC_100009"	"HGNC:14540"	"WNK1"	"MONDO:0019941"	"hereditary sensory and autonomic neuropathy type 2"	"Orphanet:970"	"Orphanet:970"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14540"	"WNK1"	"Orphanet:970"	"Hereditary sensory and autonomic neuropathy type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21089229[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15725"	"2021-09-14"
"GENCC_000110-HGNC_12782-Orphanet_3301-HP_0000007-GENCC_100009"	"HGNC:12782"	"WNT3"	"MONDO:0010110"	"tetraamelia-multiple malformations syndrome"	"Orphanet:3301"	"Orphanet:3301"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12782"	"WNT3"	"Orphanet:3301"	"Tetraamelia-multiple malformations syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14872406[PMID]_20301453[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15727"	"2021-09-14"
"GENCC_000110-HGNC_12783-Orphanet_139466-HP_0000007-GENCC_100009"	"HGNC:12783"	"WNT4"	"MONDO:0012734"	"SERKAL syndrome"	"Orphanet:139466"	"Orphanet:139466"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12783"	"WNT4"	"Orphanet:139466"	"SERKAL syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18179883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15728"	"2021-09-14"
"GENCC_000110-HGNC_12783-Orphanet_247768-HP_0000006-GENCC_100009"	"HGNC:12783"	"WNT4"	"MONDO:0008019"	"mullerian aplasia and hyperandrogenism"	"Orphanet:247768"	"Orphanet:247768"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12783"	"WNT4"	"Orphanet:247768"	"M³llerian aplasia and hyperandrogenism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16959810[PMID]_18182450[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15728"	"2021-09-14"
"GENCC_000110-HGNC_12786-Orphanet_2854-HP_0000007-GENCC_100009"	"HGNC:12786"	"WNT7A"	"MONDO:0009232"	"Fuhrmann syndrome"	"Orphanet:2854"	"Orphanet:2854"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12786"	"WNT7A"	"Orphanet:2854"	"Fuhrmann syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23922166[PMID]_23266637[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15729"	"2021-09-14"
"GENCC_000110-HGNC_12786-Orphanet_2879-HP_0000007-GENCC_100009"	"HGNC:12786"	"WNT7A"	"MONDO:0010164"	"phocomelia, Schinzel type"	"Orphanet:2879"	"Orphanet:2879"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12786"	"WNT7A"	"Orphanet:2879"	"Phocomelia, Schinzel type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23922166[PMID]_23266637[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15729"	"2021-09-14"
"GENCC_000110-HGNC_12791-Orphanet_902-HP_0000007-GENCC_100009"	"HGNC:12791"	"WRN"	"MONDO:0010196"	"Werner syndrome"	"Orphanet:902"	"Orphanet:902"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12791"	"WRN"	"Orphanet:902"	"Werner syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301687[PMID]_16673358[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15730"	"2021-09-14"
"GENCC_000110-HGNC_12796-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:12796"	"WT1"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12796"	"WT1"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20150449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15731"	"2021-09-14"
"GENCC_000110-HGNC_12796-Orphanet_347-HP_0000006-GENCC_100009"	"HGNC:12796"	"WT1"	"MONDO:0007635"	"Frasier syndrome"	"Orphanet:347"	"Orphanet:347"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12796"	"WT1"	"Orphanet:347"	"Frasier syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25623218[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15731"	"2021-09-14"
"GENCC_000110-HGNC_12799-Orphanet_251510-HP_0000006-GENCC_100009"	"HGNC:12799"	"WWOX"	"MONDO:0016674"	"46,XY partial gonadal dysgenesis"	"Orphanet:251510"	"Orphanet:251510"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12799"	"WWOX"	"Orphanet:251510"	"46,XY partial gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22071891[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15732"	"2021-09-14"
"GENCC_000110-HGNC_12799-Orphanet_284282-HP_0000007-GENCC_100009"	"HGNC:12799"	"WWOX"	"MONDO:0013687"	"autosomal recessive spinocerebellar ataxia 12"	"Orphanet:284282"	"Orphanet:284282"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12799"	"WWOX"	"Orphanet:284282"	"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24369382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15732"	"2021-09-14"
"GENCC_000110-HGNC_12799-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:12799"	"WWOX"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12799"	"WWOX"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25411445[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15732"	"2021-09-14"
"GENCC_000110-HGNC_12805-Orphanet_93601-HP_0000007-GENCC_100009"	"HGNC:12805"	"XDH"	"MONDO:0010209"	"xanthinuria type I"	"Orphanet:93601"	"Orphanet:93601"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12805"	"XDH"	"Orphanet:93601"	"Xanthinuria type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9153281[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15733"	"2021-09-14"
"GENCC_000110-HGNC_12811-Orphanet_59306-HP_0001417-GENCC_100009"	"HGNC:12811"	"XK"	"MONDO:0018945"	"McLeod neuroacanthocytosis syndrome"	"Orphanet:59306"	"Orphanet:59306"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:12811"	"XK"	"Orphanet:59306"	"McLeod neuroacanthocytosis syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15734"	"2021-09-14"
"GENCC_000110-HGNC_12814-Orphanet_910-HP_0000007-GENCC_100009"	"HGNC:12814"	"XPA"	"MONDO:0019600"	"xeroderma pigmentosum"	"Orphanet:910"	"Orphanet:910"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12814"	"XPA"	"Orphanet:910"	"Xeroderma pigmentosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15735"	"2021-09-14"
"GENCC_000110-HGNC_12816-Orphanet_910-HP_0000007-GENCC_100009"	"HGNC:12816"	"XPC"	"MONDO:0019600"	"xeroderma pigmentosum"	"Orphanet:910"	"Orphanet:910"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12816"	"XPC"	"Orphanet:910"	"Xeroderma pigmentosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15736"	"2021-09-14"
"GENCC_000110-HGNC_12858-Orphanet_911-HP_0000007-GENCC_100009"	"HGNC:12858"	"ZAP70"	"MONDO:0010023"	"combined immunodeficiency due to ZAP70 deficiency"	"Orphanet:911"	"Orphanet:911"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12858"	"ZAP70"	"Orphanet:911"	"Combined immunodeficiency due to ZAP70 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301777[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15738"	"2021-09-14"
"GENCC_000110-HGNC_11642-Orphanet_98973-HP_0000006-GENCC_100009"	"HGNC:11642"	"ZEB1"	"MONDO:0020364"	"posterior polymorphous corneal dystrophy"	"Orphanet:98973"	"Orphanet:98973"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11642"	"ZEB1"	"Orphanet:98973"	"Posterior polymorphous corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23807282[PMID]_25441224[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15739"	"2021-09-14"
"GENCC_000110-HGNC_11642-Orphanet_98974-HP_0000006-GENCC_100009"	"HGNC:11642"	"ZEB1"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"Orphanet:98974"	"Orphanet:98974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11642"	"ZEB1"	"Orphanet:98974"	"Fuchs endothelial corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20036349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15739"	"2021-09-14"
"GENCC_000110-HGNC_16700-Orphanet_251510-HP_0000006-GENCC_100009"	"HGNC:16700"	"ZFPM2"	"MONDO:0016674"	"46,XY partial gonadal dysgenesis"	"Orphanet:251510"	"Orphanet:251510"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16700"	"ZFPM2"	"Orphanet:251510"	"46,XY partial gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24549039[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15741"	"2021-09-14"
"GENCC_000110-HGNC_12872-Orphanet_35098-HP_0000006-GENCC_100009"	"HGNC:12872"	"ZIC1"	"MONDO:0018113"	"isolated plagiocephaly"	"Orphanet:35098"	"Orphanet:35098"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12872"	"ZIC1"	"Orphanet:35098"	"Isolated plagiocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26340333[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15743"	"2021-09-14"
"GENCC_000110-HGNC_12872-Orphanet_35099-HP_0000006-GENCC_100009"	"HGNC:12872"	"ZIC1"	"MONDO:0018114"	"isolated brachycephaly"	"Orphanet:35099"	"Orphanet:35099"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12872"	"ZIC1"	"Orphanet:35099"	"Isolated brachycephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26340333[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15743"	"2021-09-14"
"GENCC_000110-HGNC_12872-Orphanet_63440-HP_0000006-GENCC_100009"	"HGNC:12872"	"ZIC1"	"MONDO:0018971"	"isolated oxycephaly"	"Orphanet:63440"	"Orphanet:63440"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12872"	"ZIC1"	"Orphanet:63440"	"Isolated oxycephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26340333[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15743"	"2021-09-14"
"GENCC_000110-HGNC_12873-Orphanet_2162-HP_0000007-GENCC_100009"	"HGNC:12873"	"ZIC2"	"MONDO:0016296"	"holoprosencephaly"	"Orphanet:2162"	"Orphanet:2162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12873"	"ZIC2"	"Orphanet:2162"	"Holoprosencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29785796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15744"	"2021-09-14"
"GENCC_000110-HGNC_12877-Orphanet_1662-HP_0000006-GENCC_100009"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0010143"	"lethal restrictive dermopathy"	"Orphanet:1662"	"Orphanet:1662"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12877"	"ZMPSTE24"	"Orphanet:1662"	"Restrictive dermopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18470519[PMID]_19020898[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15747"	"2021-09-14"
"GENCC_000110-HGNC_12877-Orphanet_740-HP_0000006-GENCC_100009"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0008310"	"Hutchinson-Gilford progeria syndrome"	"Orphanet:740"	"Orphanet:740"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12877"	"ZMPSTE24"	"Orphanet:740"	"Hutchinson-Gilford progeria syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16671095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15747"	"2021-09-14"
"GENCC_000110-HGNC_12877-Orphanet_90154-HP_0000007-GENCC_100009"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0012074"	"mandibuloacral dysplasia with type B lipodystrophy"	"Orphanet:90154"	"Orphanet:90154"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12877"	"ZMPSTE24"	"Orphanet:90154"	"Mandibuloacral dysplasia with type B lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12913070[PMID]_18435794[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15747"	"2021-09-14"
"GENCC_000110-HGNC_2037-Orphanet_31043-HP_0000007-GENCC_100009"	"HGNC:2037"	"CLDN16"	"MONDO:0009550"	"renal hypomagnesemia 3"	"Orphanet:31043"	"Orphanet:31043"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2037"	"CLDN16"	"Orphanet:31043"	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18816383[PMID]_11518780[PMID]_10878661[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15748"	"2021-09-14"
"GENCC_000110-HGNC_2040-Orphanet_2196-HP_0000007-GENCC_100009"	"HGNC:2040"	"CLDN19"	"MONDO:0009548"	"renal hypomagnesemia 5 with ocular involvement"	"Orphanet:2196"	"Orphanet:2196"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2040"	"CLDN19"	"Orphanet:2196"	"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17033971[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15749"	"2021-09-14"
"GENCC_000110-HGNC_2074-Orphanet_228346-HP_0000007-GENCC_100009"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"Orphanet:228346"	"Orphanet:228346"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2074"	"CLN3"	"Orphanet:228346"	"CLN3 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15751"	"2021-09-14"
"GENCC_000110-HGNC_2076-Orphanet_228360-HP_0000007-GENCC_100009"	"HGNC:2076"	"CLN5"	"MONDO:0009745"	"neuronal ceroid lipofuscinosis 5"	"Orphanet:228360"	"Orphanet:228360"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2076"	"CLN5"	"Orphanet:228360"	"CLN5 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15752"	"2021-09-14"
"GENCC_000110-HGNC_2077-Orphanet_228340-HP_0000007-GENCC_100009"	"HGNC:2077"	"CLN6"	"MONDO:0008768"	"ceroid lipofuscinosis, neuronal, 6B (Kufs type)"	"Orphanet:228340"	"Orphanet:228340"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2077"	"CLN6"	"Orphanet:228340"	"CLN4A disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15753"	"2021-09-14"
"GENCC_000110-HGNC_2077-Orphanet_228363-HP_0000007-GENCC_100009"	"HGNC:2077"	"CLN6"	"MONDO:0011144"	"ceroid lipofuscinosis, neuronal, 6A"	"Orphanet:228363"	"Orphanet:228363"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2077"	"CLN6"	"Orphanet:228363"	"CLN6 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15753"	"2021-09-14"
"GENCC_000110-HGNC_2079-Orphanet_1947-HP_0000007-GENCC_100009"	"HGNC:2079"	"CLN8"	"MONDO:0012391"	"neuronal ceroid lipofuscinosis 8 northern epilepsy variant"	"Orphanet:1947"	"Orphanet:1947"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2079"	"CLN8"	"Orphanet:1947"	"Progressive epilepsy-intellectual disability syndrome, Finnish type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15754"	"2021-09-14"
"GENCC_000110-HGNC_2079-Orphanet_228354-HP_0000007-GENCC_100009"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"Orphanet:228354"	"Orphanet:228354"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2079"	"CLN8"	"Orphanet:228354"	"CLN8 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15754"	"2021-09-14"
"GENCC_000110-HGNC_12605-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:12605"	"CLRN1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12605"	"CLRN1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15755"	"2021-09-14"
"GENCC_000110-HGNC_12605-Orphanet_231183-HP_0000007-GENCC_100009"	"HGNC:12605"	"CLRN1"	"MONDO:0016485"	"Usher syndrome type 3"	"Orphanet:231183"	"Orphanet:231183"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12605"	"CLRN1"	"Orphanet:231183"	"Usher syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19753315[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15755"	"2021-09-14"
"GENCC_000110-HGNC_13164-Orphanet_606-HP_0000006-GENCC_100009"	"HGNC:13164"	"CNBP"	"MONDO:0011266"	"myotonic dystrophy type 2"	"Orphanet:606"	"Orphanet:606"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13164"	"CNBP"	"Orphanet:606"	"Proximal myotonic myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301639[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15756"	"2021-09-14"
"GENCC_000110-HGNC_2148-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:2148"	"CNGA1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2148"	"CNGA1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15757"	"2021-09-14"
"GENCC_000110-HGNC_2150-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:2150"	"CNGA3"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2150"	"CNGA3"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25052312[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15758"	"2021-09-14"
"GENCC_000110-HGNC_2150-Orphanet_49382-HP_0000007-GENCC_100009"	"HGNC:2150"	"CNGA3"	"MONDO:0018852"	"achromatopsia"	"Orphanet:49382"	"Orphanet:49382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2150"	"CNGA3"	"Orphanet:49382"	"Achromatopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15758"	"2021-09-14"
"GENCC_000110-HGNC_2153-Orphanet_1871-HP_0000006-GENCC_100009"	"HGNC:2153"	"CNGB3"	"MONDO:0000455"	"cone dystrophy"	"Orphanet:1871"	"Orphanet:1871"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2153"	"CNGB3"	"Orphanet:1871"	"Progressive cone dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15161866[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15759"	"2021-09-14"
"GENCC_000110-HGNC_2153-Orphanet_49382-HP_0000007-GENCC_100009"	"HGNC:2153"	"CNGB3"	"MONDO:0018852"	"achromatopsia"	"Orphanet:49382"	"Orphanet:49382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2153"	"CNGB3"	"Orphanet:49382"	"Achromatopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15759"	"2021-09-14"
"GENCC_000110-HGNC_2180-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:2180"	"COCH"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2180"	"COCH"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15760"	"2021-09-14"
"GENCC_000110-HGNC_18622-Orphanet_79333-HP_0000007-GENCC_100009"	"HGNC:18622"	"COG7"	"MONDO:0012118"	"COG7-congenital disorder of glycosylation"	"Orphanet:79333"	"Orphanet:79333"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18622"	"COG7"	"Orphanet:79333"	"COG7-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15761"	"2021-09-14"
"GENCC_000110-HGNC_2185-Orphanet_174-HP_0000006-GENCC_100009"	"HGNC:2185"	"COL10A1"	"MONDO:0007983"	"Schmid metaphyseal chondrodysplasia"	"Orphanet:174"	"Orphanet:174"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2185"	"COL10A1"	"Orphanet:174"	"Metaphyseal chondrodysplasia, Schmid type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17403716[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15762"	"2021-09-14"
"GENCC_000110-HGNC_2186-Orphanet_560-HP_0000006-GENCC_100009"	"HGNC:2186"	"COL11A1"	"MONDO:0007949"	"Marshall syndrome"	"Orphanet:560"	"Orphanet:560"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2186"	"COL11A1"	"Orphanet:560"	"Marshall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15763"	"2021-09-14"
"GENCC_000110-HGNC_2186-Orphanet_2021-HP_0000006-GENCC_100009"	"HGNC:2186"	"COL11A1"	"MONDO:0016068"	"fibrochondrogenesis"	"Orphanet:2021"	"Orphanet:2021"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2186"	"COL11A1"	"Orphanet:2021"	"Fibrochondrogenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21035103[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15763"	"2021-09-14"
"GENCC_000110-HGNC_2186-Orphanet_90654-HP_0000006-GENCC_100009"	"HGNC:2186"	"COL11A1"	"MONDO:0011493"	"Stickler syndrome type 2"	"Orphanet:90654"	"Orphanet:90654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2186"	"COL11A1"	"Orphanet:90654"	"Stickler syndrome type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15763"	"2021-09-14"
"GENCC_000110-HGNC_2186-Orphanet_250984-HP_0000007-GENCC_100009"	"HGNC:2186"	"COL11A1"	"MONDO:0016647"	"autosomal recessive Stickler syndrome"	"Orphanet:250984"	"Orphanet:250984"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2186"	"COL11A1"	"Orphanet:250984"	"Autosomal recessive Stickler syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23922384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15763"	"2021-09-14"
"GENCC_000110-HGNC_2186-Orphanet_440354-HP_0000006-GENCC_100009"	"HGNC:2186"	"COL11A1"	"MONDO:0018601"	"autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"	"Orphanet:440354"	"Orphanet:440354"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2186"	"COL11A1"	"Orphanet:440354"	"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25091507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15763"	"2021-09-14"
"GENCC_000110-HGNC_2187-Orphanet_1427-HP_0000007-GENCC_100009"	"HGNC:2187"	"COL11A2"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"Orphanet:1427"	"Orphanet:1427"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2187"	"COL11A2"	"Orphanet:1427"	"Otospondylomegaepiphyseal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10677296[PMID]_21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15764"	"2021-09-14"
"GENCC_000110-HGNC_2187-Orphanet_2021-HP_0000006-GENCC_100009"	"HGNC:2187"	"COL11A2"	"MONDO:0016068"	"fibrochondrogenesis"	"Orphanet:2021"	"Orphanet:2021"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2187"	"COL11A2"	"Orphanet:2021"	"Fibrochondrogenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22246659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15764"	"2021-09-14"
"GENCC_000110-HGNC_2187-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:2187"	"COL11A2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2187"	"COL11A2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15764"	"2021-09-14"
"GENCC_000110-HGNC_2187-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:2187"	"COL11A2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2187"	"COL11A2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15764"	"2021-09-14"
"GENCC_000110-HGNC_2187-Orphanet_166100-HP_0000006-GENCC_100009"	"HGNC:2187"	"COL11A2"	"MONDO:0008490"	"otospondylomegaepiphyseal dysplasia, autosomal dominant"	"Orphanet:166100"	"Orphanet:166100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2187"	"COL11A2"	"Orphanet:166100"	"Autosomal dominant otospondylomegaepiphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15764"	"2021-09-14"
"GENCC_000110-HGNC_2194-Orphanet_79402-HP_0000007-GENCC_100009"	"HGNC:2194"	"COL17A1"	"MONDO:0019307"	"generalized junctional epidermolysis bullosa non-Herlitz type"	"Orphanet:79402"	"Orphanet:79402"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2194"	"COL17A1"	"Orphanet:79402"	"Intermediate generalized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15765"	"2021-09-14"
"GENCC_000110-HGNC_2194-Orphanet_79406-HP_0000007-GENCC_100009"	"HGNC:2194"	"COL17A1"	"MONDO:0019309"	"late-onset junctional epidermolysis bullosa"	"Orphanet:79406"	"Orphanet:79406"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2194"	"COL17A1"	"Orphanet:79406"	"Late-onset junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15765"	"2021-09-14"
"GENCC_000110-HGNC_2194-Orphanet_251393-HP_0000007-GENCC_100009"	"HGNC:2194"	"COL17A1"	"MONDO:0016673"	"localized junctional epidermolysis bullosa, non-Herlitz type"	"Orphanet:251393"	"Orphanet:251393"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2194"	"COL17A1"	"Orphanet:251393"	"Localized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15765"	"2021-09-14"
"GENCC_000110-HGNC_2194-Orphanet_293381-HP_0000006-GENCC_100009"	"HGNC:2194"	"COL17A1"	"MONDO:0007381"	"epithelial recurrent erosion dystrophy"	"Orphanet:293381"	"Orphanet:293381"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2194"	"COL17A1"	"Orphanet:293381"	"Epithelial recurrent erosion dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25676728[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15765"	"2021-09-14"
"GENCC_000110-HGNC_2195-Orphanet_1571-HP_0000007-GENCC_100009"	"HGNC:2195"	"COL18A1"	"MONDO:0009977"	"Knobloch syndrome"	"Orphanet:1571"	"Orphanet:1571"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2195"	"COL18A1"	"Orphanet:1571"	"Knobloch syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21862674[PMID]_15714516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15766"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_1310-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0007244"	"Caffey disease"	"Orphanet:1310"	"Orphanet:1310"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:1310"	"Caffey disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22855962[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_287-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"Orphanet:287"	"Orphanet:287"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:287"	"Classical Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10739762[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_1899-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"Orphanet:1899"	"Orphanet:1899"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:1899"	"Arthrochalasia Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9295084[PMID]_1867198[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_216796-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"Orphanet:216796"	"Orphanet:216796"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:216796"	"Osteogenesis imperfecta type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_20301472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_216804-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"Orphanet:216804"	"Orphanet:216804"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:216804"	"Osteogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_20301472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_20301472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_20301472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_230857-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0016470"	"Ehlers-Danlos/osteogenesis imperfecta syndrome"	"Orphanet:230857"	"Orphanet:230857"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:230857"	"Ehlers-Danlos/osteogenesis imperfecta syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15728585[PMID]_23692737[PMID]_25674388[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2197-Orphanet_314029-HP_0000006-GENCC_100009"	"HGNC:2197"	"COL1A1"	"MONDO:0017791"	"high bone mass osteogenesis imperfecta"	"Orphanet:314029"	"Orphanet:314029"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2197"	"COL1A1"	"Orphanet:314029"	"High bone mass osteogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21344539[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15767"	"2021-09-14"
"GENCC_000110-HGNC_2198-Orphanet_1899-HP_0000006-GENCC_100009"	"HGNC:2198"	"COL1A2"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"Orphanet:1899"	"Orphanet:1899"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2198"	"COL1A2"	"Orphanet:1899"	"Arthrochalasia Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9295084[PMID]_8071956[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15768"	"2021-09-14"
"GENCC_000110-HGNC_2198-Orphanet_216796-HP_0000006-GENCC_100009"	"HGNC:2198"	"COL1A2"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"Orphanet:216796"	"Orphanet:216796"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2198"	"COL1A2"	"Orphanet:216796"	"Osteogenesis imperfecta type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_20301472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15768"	"2021-09-14"
"GENCC_000110-HGNC_2198-Orphanet_216804-HP_0000006-GENCC_100009"	"HGNC:2198"	"COL1A2"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"Orphanet:216804"	"Orphanet:216804"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2198"	"COL1A2"	"Orphanet:216804"	"Osteogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_20301472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15768"	"2021-09-14"
"GENCC_000110-HGNC_2198-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:2198"	"COL1A2"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2198"	"COL1A2"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_20301472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15768"	"2021-09-14"
"GENCC_000110-HGNC_2198-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:2198"	"COL1A2"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2198"	"COL1A2"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_20301472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15768"	"2021-09-14"
"GENCC_000110-HGNC_2198-Orphanet_230851-HP_0000007-GENCC_100009"	"HGNC:2198"	"COL1A2"	"MONDO:0009159"	"Ehlers-Danlos syndrome, cardiac valvular type"	"Orphanet:230851"	"Orphanet:230851"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2198"	"COL1A2"	"Orphanet:230851"	"Cardiac-valvular Ehlers-Danlos syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15077201[PMID]_16816023[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15768"	"2021-09-14"
"GENCC_000110-HGNC_2198-Orphanet_230857-HP_0000006-GENCC_100009"	"HGNC:2198"	"COL1A2"	"MONDO:0016470"	"Ehlers-Danlos/osteogenesis imperfecta syndrome"	"Orphanet:230857"	"Orphanet:230857"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2198"	"COL1A2"	"Orphanet:230857"	"Ehlers-Danlos/osteogenesis imperfecta syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23692737[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15768"	"2021-09-14"
"GENCC_000110-HGNC_2198-Orphanet_314029-HP_0000006-GENCC_100009"	"HGNC:2198"	"COL1A2"	"MONDO:0017791"	"high bone mass osteogenesis imperfecta"	"Orphanet:314029"	"Orphanet:314029"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2198"	"COL1A2"	"Orphanet:314029"	"High bone mass osteogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21344539[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15768"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_2380-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0007885"	"Legg-Calve-Perthes disease"	"Orphanet:2380"	"Orphanet:2380"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:2380"	"Legg-CalvÚ-Perthes disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17394019[PMID]_18512791[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_485-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0007987"	"Kniest dysplasia"	"Orphanet:485"	"Orphanet:485"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:485"	"Kniest dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10406661[PMID]_15895462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_1856-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0010078"	"spondyloperipheral dysplasia"	"Orphanet:1856"	"Orphanet:1856"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:1856"	"Spondyloperipheral dysplasia-short ulna syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15316962[PMID]_23545312[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_85166-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0007895"	"platyspondylic dysplasia, Torrance type"	"Orphanet:85166"	"Orphanet:85166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:85166"	"Platyspondylic dysplasia, Torrance type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15643621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_85198-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0019412"	"dysspondyloenchondromatosis"	"Orphanet:85198"	"Orphanet:85198"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:85198"	"Dysspondyloenchondromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22570642[PMID]_26250472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_86820-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0012126"	"familial avascular necrosis of femoral head"	"Orphanet:86820"	"Orphanet:86820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:86820"	"Familial avascular necrosis of femoral head"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15930420[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_90653-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome type 1"	"Orphanet:90653"	"Orphanet:90653"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:90653"	"Stickler syndrome type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_93279-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0011496"	"mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"	"Orphanet:93279"	"Orphanet:93279"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:93279"	"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1975693[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_93296-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0008702"	"achondrogenesis type II"	"Orphanet:93296"	"Orphanet:93296"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:93296"	"Achondrogenesis type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10797431[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_93297-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0019669"	"hypochondrogenesis"	"Orphanet:93297"	"Orphanet:93297"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:93297"	"Hypochondrogenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10797431[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_93316-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0008478"	"spondylometaphyseal dysplasia, Schmidt type"	"Orphanet:93316"	"Orphanet:93316"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:93316"	"Spondylometaphyseal dysplasia, Schmidt type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23653587[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_93346-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0008476"	"spondyloepimetaphyseal dysplasia, Strudwick type"	"Orphanet:93346"	"Orphanet:93346"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:93346"	"Spondyloepimetaphyseal dysplasia congenita, Strudwick type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7550321[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_94068-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0008471"	"spondyloepiphyseal dysplasia congenita"	"Orphanet:94068"	"Orphanet:94068"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:94068"	"Spondyloepiphyseal dysplasia congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26030151[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_137678-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0012206"	"spondyloepiphyseal dysplasia with metatarsal shortening"	"Orphanet:137678"	"Orphanet:137678"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:137678"	"Spondyloepiphyseal dysplasia with metatarsal shortening"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17726487[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_166011-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0007562"	"multiple epiphyseal dysplasia, Beighton type"	"Orphanet:166011"	"Orphanet:166011"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:166011"	"Multiple epiphyseal dysplasia, Beighton type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9800905[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_209867-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0016202"	"autosomal dominant rhegmatogenous retinal detachment"	"Orphanet:209867"	"Orphanet:209867"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:209867"	"Autosomal dominant rhegmatogenous retinal detachment"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15671297[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2200-Orphanet_459051-HP_0000006-GENCC_100009"	"HGNC:2200"	"COL2A1"	"MONDO:0014701"	"spondyloepiphyseal dysplasia, Stanescu type"	"Orphanet:459051"	"Orphanet:459051"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2200"	"COL2A1"	"Orphanet:459051"	"Spondyloepiphyseal dysplasia, Stanescu type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26183434[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15769"	"2021-09-14"
"GENCC_000110-HGNC_2201-Orphanet_286-HP_0000006-GENCC_100009"	"HGNC:2201"	"COL3A1"	"MONDO:0017314"	"Ehlers-Danlos syndrome, vascular type"	"Orphanet:286"	"Orphanet:286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2201"	"COL3A1"	"Orphanet:286"	"Vascular Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301667[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15770"	"2021-09-14"
"GENCC_000110-HGNC_2202-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:2202"	"COL4A1"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2202"	"COL4A1"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21625620[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15771"	"2021-09-14"
"GENCC_000110-HGNC_2202-Orphanet_36383-HP_0000006-GENCC_100009"	"HGNC:2202"	"COL4A1"	"MONDO:0008289"	"brain small vessel disease 1 with or without ocular anomalies"	"Orphanet:36383"	"Orphanet:36383"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2202"	"COL4A1"	"Orphanet:36383"	"COL4A1-related familial vascular leukoencephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23065703[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15771"	"2021-09-14"
"GENCC_000110-HGNC_2202-Orphanet_73229-HP_0000006-GENCC_100009"	"HGNC:2202"	"COL4A1"	"MONDO:0012726"	"autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome"	"Orphanet:73229"	"Orphanet:73229"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2202"	"COL4A1"	"Orphanet:73229"	"HANAC syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18160688[PMID]_20301768[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15771"	"2021-09-14"
"GENCC_000110-HGNC_2202-Orphanet_75326-HP_0000006-GENCC_100009"	"HGNC:2202"	"COL4A1"	"MONDO:0008373"	"retinal arterial tortuosity"	"Orphanet:75326"	"Orphanet:75326"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2202"	"COL4A1"	"Orphanet:75326"	"Retinal arterial tortuosity"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25228067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15771"	"2021-09-14"
"GENCC_000110-HGNC_2202-Orphanet_99810-HP_0000006-GENCC_100009"	"HGNC:2202"	"COL4A1"	"MONDO:0020496"	"familial porencephaly"	"Orphanet:99810"	"Orphanet:99810"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2202"	"COL4A1"	"Orphanet:99810"	"Familial porencephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15771"	"2021-09-14"
"GENCC_000110-HGNC_2202-Orphanet_477749-HP_0000006-GENCC_100009"	"HGNC:2202"	"COL4A1"	"MONDO:0018786"	"pontine autosomal dominant microangiopathy with leukoencephalopathy"	"Orphanet:477749"	"Orphanet:477749"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2202"	"COL4A1"	"Orphanet:477749"	"Pontine autosomal dominant microangiopathy with leukoencephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27666438[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15771"	"2021-09-14"
"GENCC_000110-HGNC_2204-Orphanet_88918-HP_0000006-GENCC_100009"	"HGNC:2204"	"COL4A3"	"MONDO:0007086"	"autosomal dominant Alport syndrome"	"Orphanet:88918"	"Orphanet:88918"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2204"	"COL4A3"	"Orphanet:88918"	"Autosomal dominant Alport syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15772"	"2021-09-14"
"GENCC_000110-HGNC_2204-Orphanet_88919-HP_0000007-GENCC_100009"	"HGNC:2204"	"COL4A3"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"Orphanet:88919"	"Orphanet:88919"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2204"	"COL4A3"	"Orphanet:88919"	"Autosomal recessive Alport syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15772"	"2021-09-14"
"GENCC_000110-HGNC_2206-Orphanet_88918-HP_0000006-GENCC_100009"	"HGNC:2206"	"COL4A4"	"MONDO:0007086"	"autosomal dominant Alport syndrome"	"Orphanet:88918"	"Orphanet:88918"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2206"	"COL4A4"	"Orphanet:88918"	"Autosomal dominant Alport syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9269635[PMID]_20301386[PMID]_15086897[PMID]_11572889[PMID]_19129241[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15773"	"2021-09-14"
"GENCC_000110-HGNC_2206-Orphanet_88919-HP_0000007-GENCC_100009"	"HGNC:2206"	"COL4A4"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"Orphanet:88919"	"Orphanet:88919"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2206"	"COL4A4"	"Orphanet:88919"	"Autosomal recessive Alport syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15773"	"2021-09-14"
"GENCC_000110-HGNC_2207-Orphanet_88917-HP_0001417-GENCC_100009"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"X-linked Alport syndrome"	"Orphanet:88917"	"Orphanet:88917"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2207"	"COL4A5"	"Orphanet:88917"	"X-linked Alport syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15774"	"2021-09-14"
"GENCC_000110-HGNC_2208-Orphanet_90625-HP_0001417-GENCC_100009"	"HGNC:2208"	"COL4A6"	"MONDO:0019586"	"X-linked nonsyndromic hearing loss"	"Orphanet:90625"	"Orphanet:90625"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2208"	"COL4A6"	"Orphanet:90625"	"X-linked non-syndromic sensorineural deafness type DFN"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23714752[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15775"	"2021-09-14"
"GENCC_000110-HGNC_2209-Orphanet_287-HP_0000006-GENCC_100009"	"HGNC:2209"	"COL5A1"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"Orphanet:287"	"Orphanet:287"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2209"	"COL5A1"	"Orphanet:287"	"Classical Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15580559[PMID]_22696272[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15776"	"2021-09-14"
"GENCC_000110-HGNC_2210-Orphanet_287-HP_0000006-GENCC_100009"	"HGNC:2210"	"COL5A2"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"Orphanet:287"	"Orphanet:287"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2210"	"COL5A2"	"Orphanet:287"	"Classical Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15580559[PMID]_22696272[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15777"	"2021-09-14"
"GENCC_000110-HGNC_2211-Orphanet_610-HP_0000006-GENCC_100009"	"HGNC:2211"	"COL6A1"	"MONDO:0008029"	"Bethlem myopathy"	"Orphanet:610"	"Orphanet:610"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2211"	"COL6A1"	"Orphanet:610"	"Bethlem myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301676[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15778"	"2021-09-14"
"GENCC_000110-HGNC_2211-Orphanet_75840-HP_0000006-GENCC_100009"	"HGNC:2211"	"COL6A1"	"MONDO:0000355"	"Ullrich congenital muscular dystrophy"	"Orphanet:75840"	"Orphanet:75840"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2211"	"COL6A1"	"Orphanet:75840"	"Congenital muscular dystrophy, Ullrich type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18366090[PMID]_20301676[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15778"	"2021-09-14"
"GENCC_000110-HGNC_2212-Orphanet_610-HP_0000006-GENCC_100009"	"HGNC:2212"	"COL6A2"	"MONDO:0008029"	"Bethlem myopathy"	"Orphanet:610"	"Orphanet:610"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2212"	"COL6A2"	"Orphanet:610"	"Bethlem myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301676[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15779"	"2021-09-14"
"GENCC_000110-HGNC_2212-Orphanet_75840-HP_0000006-GENCC_100009"	"HGNC:2212"	"COL6A2"	"MONDO:0000355"	"Ullrich congenital muscular dystrophy"	"Orphanet:75840"	"Orphanet:75840"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2212"	"COL6A2"	"Orphanet:75840"	"Congenital muscular dystrophy, Ullrich type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18366090[PMID]_20301676[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15779"	"2021-09-14"
"GENCC_000110-HGNC_2212-Orphanet_289380-HP_0000007-GENCC_100009"	"HGNC:2212"	"COL6A2"	"MONDO:0009714"	"myosclerosis"	"Orphanet:289380"	"Orphanet:289380"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2212"	"COL6A2"	"Orphanet:289380"	"Myosclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18852439[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15779"	"2021-09-14"
"GENCC_000110-HGNC_2213-Orphanet_610-HP_0000006-GENCC_100009"	"HGNC:2213"	"COL6A3"	"MONDO:0008029"	"Bethlem myopathy"	"Orphanet:610"	"Orphanet:610"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2213"	"COL6A3"	"Orphanet:610"	"Bethlem myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301676[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15780"	"2021-09-14"
"GENCC_000110-HGNC_2213-Orphanet_75840-HP_0000006-GENCC_100009"	"HGNC:2213"	"COL6A3"	"MONDO:0000355"	"Ullrich congenital muscular dystrophy"	"Orphanet:75840"	"Orphanet:75840"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2213"	"COL6A3"	"Orphanet:75840"	"Congenital muscular dystrophy, Ullrich type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18366090[PMID]_20301676[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15780"	"2021-09-14"
"GENCC_000110-HGNC_2213-Orphanet_464440-HP_0000007-GENCC_100009"	"HGNC:2213"	"COL6A3"	"MONDO:0014627"	"dystonia 27"	"Orphanet:464440"	"Orphanet:464440"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2213"	"COL6A3"	"Orphanet:464440"	"Primary dystonia, DYT27 type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26004199[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15780"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_79408-HP_0000007-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"Orphanet:79408"	"Orphanet:79408"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:79408"	"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_79409-HP_0000007-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0019310"	"recessive dystrophic epidermolysis bullosa inversa"	"Orphanet:79409"	"Orphanet:79409"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:79409"	"Recessive dystrophic epidermolysis bullosa inversa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_79410-HP_0000006-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0007552"	"pretibial dystrophic epidermolysis bullosa"	"Orphanet:79410"	"Orphanet:79410"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:79410"	"Localized dystrophic epidermolysis bullosa, pretibial form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_79411-HP_0000006-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0007548"	"transient bullous dermolysis of the newborn"	"Orphanet:79411"	"Orphanet:79411"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:79411"	"Self-improving dystrophic epidermolysis bullosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_89842-HP_0000007-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0019522"	"recessive dystrophic epidermolysis bullosa-generalized other"	"Orphanet:89842"	"Orphanet:89842"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:89842"	"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_89843-HP_0000006-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0011398"	"dystrophic epidermolysis bullosa pruriginosa"	"Orphanet:89843"	"Orphanet:89843"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:89843"	"Dystrophic epidermolysis bullosa pruriginosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_158673-HP_0000006-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0015552"	"acral dystrophic epidermolysis bullosa"	"Orphanet:158673"	"Orphanet:158673"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:158673"	"Localized dystrophic epidermolysis bullosa, acral form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_158676-HP_0000006-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0015553"	"dystrophic epidermolysis bullosa, nails only"	"Orphanet:158676"	"Orphanet:158676"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:158676"	"Localized dystrophic epidermolysis bullosa, nails only"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2214-Orphanet_231568-HP_0000006-GENCC_100009"	"HGNC:2214"	"COL7A1"	"MONDO:0007549"	"generalized dominant dystrophic epidermolysis bullosa"	"Orphanet:231568"	"Orphanet:231568"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2214"	"COL7A1"	"Orphanet:231568"	"Autosomal dominant generalized dystrophic epidermolysis bullosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15781"	"2021-09-14"
"GENCC_000110-HGNC_2216-Orphanet_98973-HP_0000006-GENCC_100009"	"HGNC:2216"	"COL8A2"	"MONDO:0020364"	"posterior polymorphous corneal dystrophy"	"Orphanet:98973"	"Orphanet:98973"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2216"	"COL8A2"	"Orphanet:98973"	"Posterior polymorphous corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11689488[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15782"	"2021-09-14"
"GENCC_000110-HGNC_2216-Orphanet_98974-HP_0000006-GENCC_100009"	"HGNC:2216"	"COL8A2"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"Orphanet:98974"	"Orphanet:98974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2216"	"COL8A2"	"Orphanet:98974"	"Fuchs endothelial corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18464802[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15782"	"2021-09-14"
"GENCC_000110-HGNC_2217-Orphanet_166002-HP_0000006-GENCC_100009"	"HGNC:2217"	"COL9A1"	"MONDO:0015627"	"multiple epiphyseal dysplasia due to collagen 9 anomaly"	"Orphanet:166002"	"Orphanet:166002"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2217"	"COL9A1"	"Orphanet:166002"	"Multiple epiphyseal dysplasia due to collagen 9 anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15783"	"2021-09-14"
"GENCC_000110-HGNC_2217-Orphanet_250984-HP_0000007-GENCC_100009"	"HGNC:2217"	"COL9A1"	"MONDO:0016647"	"autosomal recessive Stickler syndrome"	"Orphanet:250984"	"Orphanet:250984"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2217"	"COL9A1"	"Orphanet:250984"	"Autosomal recessive Stickler syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15783"	"2021-09-14"
"GENCC_000110-HGNC_2218-Orphanet_166002-HP_0000006-GENCC_100009"	"HGNC:2218"	"COL9A2"	"MONDO:0015627"	"multiple epiphyseal dysplasia due to collagen 9 anomaly"	"Orphanet:166002"	"Orphanet:166002"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2218"	"COL9A2"	"Orphanet:166002"	"Multiple epiphyseal dysplasia due to collagen 9 anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15784"	"2021-09-14"
"GENCC_000110-HGNC_2218-Orphanet_250984-HP_0000007-GENCC_100009"	"HGNC:2218"	"COL9A2"	"MONDO:0016647"	"autosomal recessive Stickler syndrome"	"Orphanet:250984"	"Orphanet:250984"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2218"	"COL9A2"	"Orphanet:250984"	"Autosomal recessive Stickler syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21671392[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15784"	"2021-09-14"
"GENCC_000110-HGNC_2219-Orphanet_166002-HP_0000006-GENCC_100009"	"HGNC:2219"	"COL9A3"	"MONDO:0015627"	"multiple epiphyseal dysplasia due to collagen 9 anomaly"	"Orphanet:166002"	"Orphanet:166002"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2219"	"COL9A3"	"Orphanet:166002"	"Multiple epiphyseal dysplasia due to collagen 9 anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15785"	"2021-09-14"
"GENCC_000110-HGNC_2219-Orphanet_250984-HP_0000007-GENCC_100009"	"HGNC:2219"	"COL9A3"	"MONDO:0016647"	"autosomal recessive Stickler syndrome"	"Orphanet:250984"	"Orphanet:250984"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2219"	"COL9A3"	"Orphanet:250984"	"Autosomal recessive Stickler syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24273071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15785"	"2021-09-14"
"GENCC_000110-HGNC_2227-Orphanet_750-HP_0000006-GENCC_100009"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"Orphanet:750"	"Orphanet:750"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2227"	"COMP"	"Orphanet:750"	"Pseudoachondroplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301660[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15787"	"2021-09-14"
"GENCC_000110-HGNC_2227-Orphanet_93308-HP_0000006-GENCC_100009"	"HGNC:2227"	"COMP"	"MONDO:0007561"	"multiple epiphyseal dysplasia type 1"	"Orphanet:93308"	"Orphanet:93308"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2227"	"COMP"	"Orphanet:93308"	"Multiple epiphyseal dysplasia type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15787"	"2021-09-14"
"GENCC_000110-HGNC_25223-Orphanet_255249-HP_0000007-GENCC_100009"	"HGNC:25223"	"COQ2"	"MONDO:0016816"	"Leigh syndrome with nephrotic syndrome"	"Orphanet:255249"	"Orphanet:255249"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25223"	"COQ2"	"Orphanet:255249"	"Leigh syndrome with nephrotic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15788"	"2021-09-14"
"GENCC_000110-HGNC_2260-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:2260"	"COX10"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2260"	"COX10"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10767350[PMID]_12928484[PMID]_15455402[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15789"	"2021-09-14"
"GENCC_000110-HGNC_2263-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:2263"	"COX15"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2263"	"COX15"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15235026[PMID]_15863660[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15790"	"2021-09-14"
"GENCC_000110-HGNC_2295-Orphanet_48818-HP_0000007-GENCC_100009"	"HGNC:2295"	"CP"	"MONDO:0011426"	"aceruloplasminemia"	"Orphanet:48818"	"Orphanet:48818"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2295"	"CP"	"Orphanet:48818"	"Aceruloplasminemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15791"	"2021-09-14"
"GENCC_000110-HGNC_17245-Orphanet_163717-HP_0000006-GENCC_100009"	"HGNC:17245"	"CPA6"	"MONDO:0015586"	"benign familial mesial temporal lobe epilepsy"	"Orphanet:163717"	"Orphanet:163717"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17245"	"CPA6"	"Orphanet:163717"	"Benign familial mesial temporal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21922598[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15792"	"2021-09-14"
"GENCC_000110-HGNC_17245-Orphanet_165805-HP_0000006-GENCC_100009"	"HGNC:17245"	"CPA6"	"MONDO:0013742"	"familial mesial temporal lobe epilepsy with febrile seizures"	"Orphanet:165805"	"Orphanet:165805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17245"	"CPA6"	"Orphanet:165805"	"Familial mesial temporal lobe epilepsy with febrile seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21922598[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15792"	"2021-09-14"
"GENCC_000110-HGNC_2321-Orphanet_79273-HP_0000006-GENCC_100009"	"HGNC:2321"	"CPOX"	"MONDO:0007369"	"hereditary coproporphyria"	"Orphanet:79273"	"Orphanet:79273"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2321"	"CPOX"	"Orphanet:79273"	"Hereditary coproporphyria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23236641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15793"	"2021-09-14"
"GENCC_000110-HGNC_2323-Orphanet_147-HP_0000007-GENCC_100009"	"HGNC:2323"	"CPS1"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"Orphanet:147"	"Orphanet:147"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2323"	"CPS1"	"Orphanet:147"	"Carbamoyl-phosphate synthetase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20800523[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15794"	"2021-09-14"
"GENCC_000110-HGNC_2328-Orphanet_156-HP_0000007-GENCC_100009"	"HGNC:2328"	"CPT1A"	"MONDO:0009705"	"carnitine palmitoyl transferase 1A deficiency"	"Orphanet:156"	"Orphanet:156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2328"	"CPT1A"	"Orphanet:156"	"Carnitine palmitoyl transferase 1A deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301700[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15795"	"2021-09-14"
"GENCC_000110-HGNC_2330-Orphanet_228302-HP_0000007-GENCC_100009"	"HGNC:2330"	"CPT2"	"MONDO:0009704"	"carnitine palmitoyl transferase II deficiency, myopathic form"	"Orphanet:228302"	"Orphanet:228302"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2330"	"CPT2"	"Orphanet:228302"	"Carnitine palmitoyl transferase II deficiency, myopathic form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15796"	"2021-09-14"
"GENCC_000110-HGNC_2330-Orphanet_228305-HP_0000007-GENCC_100009"	"HGNC:2330"	"CPT2"	"MONDO:0010914"	"carnitine palmitoyl transferase II deficiency, severe infantile form"	"Orphanet:228305"	"Orphanet:228305"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2330"	"CPT2"	"Orphanet:228305"	"Carnitine palmitoyl transferase II deficiency, severe infantile form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15796"	"2021-09-14"
"GENCC_000110-HGNC_2330-Orphanet_228308-HP_0000007-GENCC_100009"	"HGNC:2330"	"CPT2"	"MONDO:0012136"	"carnitine palmitoyl transferase II deficiency, neonatal form"	"Orphanet:228308"	"Orphanet:228308"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2330"	"CPT2"	"Orphanet:228308"	"Carnitine palmitoyl transferase II deficiency, neonatal form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15796"	"2021-09-14"
"GENCC_000110-HGNC_2343-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:2343"	"CRB1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2343"	"CRB1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15798"	"2021-09-14"
"GENCC_000110-HGNC_2343-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:2343"	"CRB1"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2343"	"CRB1"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15798"	"2021-09-14"
"GENCC_000110-HGNC_2343-Orphanet_35612-HP_0000006-GENCC_100009"	"HGNC:2343"	"CRB1"	"MONDO:0005514"	"nanophthalmia"	"Orphanet:35612"	"Orphanet:35612"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2343"	"CRB1"	"Orphanet:35612"	"Nanophthalmos"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19375515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15798"	"2021-09-14"
"GENCC_000110-HGNC_2343-Orphanet_251295-HP_0000006-GENCC_100009"	"HGNC:2343"	"CRB1"	"MONDO:0008246"	"pigmented paravenous retinochoroidal atrophy"	"Orphanet:251295"	"Orphanet:251295"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2343"	"CRB1"	"Orphanet:251295"	"Pigmented paravenous retinochoroidal atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15623792[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15798"	"2021-09-14"
"GENCC_000110-HGNC_30185-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:30185"	"CRBN"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30185"	"CRBN"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15557513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15800"	"2021-09-14"
"GENCC_000110-HGNC_2383-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:2383"	"CRX"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2383"	"CRX"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15803"	"2021-09-14"
"GENCC_000110-HGNC_2383-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:2383"	"CRX"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2383"	"CRX"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26682157[PMID]_26992781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15803"	"2021-09-14"
"GENCC_000110-HGNC_2383-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:2383"	"CRX"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2383"	"CRX"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9931337[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15803"	"2021-09-14"
"GENCC_000110-HGNC_2388-Orphanet_1377-HP_0000006-GENCC_100009"	"HGNC:2388"	"CRYAA"	"MONDO:0015300"	"cataract - microcornea syndrome"	"Orphanet:1377"	"Orphanet:1377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2388"	"CRYAA"	"Orphanet:1377"	"Cataract-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21686328[PMID]_21612679[PMID]_17724170[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15804"	"2021-09-14"
"GENCC_000110-HGNC_2388-Orphanet_98988-HP_0000006-GENCC_100009"	"HGNC:2388"	"CRYAA"	"MONDO:0020373"	"early-onset anterior polar cataract"	"Orphanet:98988"	"Orphanet:98988"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2388"	"CRYAA"	"Orphanet:98988"	"Early-onset anterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22065922[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15804"	"2021-09-14"
"GENCC_000110-HGNC_2388-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2388"	"CRYAA"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2388"	"CRYAA"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19390652[PMID]_24074001[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15804"	"2021-09-14"
"GENCC_000110-HGNC_2388-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:2388"	"CRYAA"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2388"	"CRYAA"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16862070[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15804"	"2021-09-14"
"GENCC_000110-HGNC_2388-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:2388"	"CRYAA"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2388"	"CRYAA"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23255486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15804"	"2021-09-14"
"GENCC_000110-HGNC_2389-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:2389"	"CRYAB"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2389"	"CRYAB"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16483541[PMID]_16793013[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15805"	"2021-09-14"
"GENCC_000110-HGNC_2389-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2389"	"CRYAB"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2389"	"CRYAB"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19597569[PMID]_24384146[PMID]_26622071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15805"	"2021-09-14"
"GENCC_000110-HGNC_2389-Orphanet_98993-HP_0000006-GENCC_100009"	"HGNC:2389"	"CRYAB"	"MONDO:0020378"	"early-onset posterior polar cataract"	"Orphanet:98993"	"Orphanet:98993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2389"	"CRYAB"	"Orphanet:98993"	"Early-onset posterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16877416[PMID]_25195561[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15805"	"2021-09-14"
"GENCC_000110-HGNC_2389-Orphanet_280553-HP_0000007-GENCC_100009"	"HGNC:2389"	"CRYAB"	"MONDO:0013472"	"fatal infantile hypertonic myofibrillar myopathy"	"Orphanet:280553"	"Orphanet:280553"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2389"	"CRYAB"	"Orphanet:280553"	"Fatal infantile hypertonic myofibrillar myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21337604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15805"	"2021-09-14"
"GENCC_000110-HGNC_2389-Orphanet_399058-HP_0000006-GENCC_100009"	"HGNC:2389"	"CRYAB"	"MONDO:0012130"	"myofibrillar myopathy 2"	"Orphanet:399058"	"Orphanet:399058"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2389"	"CRYAB"	"Orphanet:399058"	"Alpha-B crystallin-related late-onset myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20171888[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15805"	"2021-09-14"
"GENCC_000110-HGNC_2389-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:2389"	"CRYAB"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2389"	"CRYAB"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16505043[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15805"	"2021-09-14"
"GENCC_000110-HGNC_2394-Orphanet_98985-HP_0000006-GENCC_100009"	"HGNC:2394"	"CRYBA1"	"MONDO:0020372"	"early-onset sutural cataract"	"Orphanet:98985"	"Orphanet:98985"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2394"	"CRYBA1"	"Orphanet:98985"	"Early-onset sutural cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9788845[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15806"	"2021-09-14"
"GENCC_000110-HGNC_2394-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2394"	"CRYBA1"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2394"	"CRYBA1"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21686330[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15806"	"2021-09-14"
"GENCC_000110-HGNC_2394-Orphanet_98993-HP_0000006-GENCC_100009"	"HGNC:2394"	"CRYBA1"	"MONDO:0020378"	"early-onset posterior polar cataract"	"Orphanet:98993"	"Orphanet:98993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2394"	"CRYBA1"	"Orphanet:98993"	"Early-onset posterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20142846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15806"	"2021-09-14"
"GENCC_000110-HGNC_2394-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:2394"	"CRYBA1"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2394"	"CRYBA1"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15016766[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15806"	"2021-09-14"
"GENCC_000110-HGNC_2396-Orphanet_1377-HP_0000006-GENCC_100009"	"HGNC:2396"	"CRYBA4"	"MONDO:0015300"	"cataract - microcornea syndrome"	"Orphanet:1377"	"Orphanet:1377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2396"	"CRYBA4"	"Orphanet:1377"	"Cataract-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20577656[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15807"	"2021-09-14"
"GENCC_000110-HGNC_2396-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:2396"	"CRYBA4"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2396"	"CRYBA4"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16960806[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15807"	"2021-09-14"
"GENCC_000110-HGNC_2398-Orphanet_1377-HP_0000006-GENCC_100009"	"HGNC:2398"	"CRYBB2"	"MONDO:0015300"	"cataract - microcornea syndrome"	"Orphanet:1377"	"Orphanet:1377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2398"	"CRYBB2"	"Orphanet:1377"	"Cataract-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21402992[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15808"	"2021-09-14"
"GENCC_000110-HGNC_2398-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:2398"	"CRYBB2"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2398"	"CRYBB2"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10634616[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15808"	"2021-09-14"
"GENCC_000110-HGNC_2398-Orphanet_98985-HP_0000006-GENCC_100009"	"HGNC:2398"	"CRYBB2"	"MONDO:0020372"	"early-onset sutural cataract"	"Orphanet:98985"	"Orphanet:98985"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2398"	"CRYBB2"	"Orphanet:98985"	"Early-onset sutural cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11424921[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15808"	"2021-09-14"
"GENCC_000110-HGNC_2398-Orphanet_98989-HP_0000006-GENCC_100009"	"HGNC:2398"	"CRYBB2"	"MONDO:0020374"	"cerulean cataract"	"Orphanet:98989"	"Orphanet:98989"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2398"	"CRYBB2"	"Orphanet:98989"	"Cerulean cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9158139[PMID]_19321936[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15808"	"2021-09-14"
"GENCC_000110-HGNC_2398-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2398"	"CRYBB2"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2398"	"CRYBB2"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19649175[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15808"	"2021-09-14"
"GENCC_000110-HGNC_2398-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:2398"	"CRYBB2"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2398"	"CRYBB2"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21031021[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15808"	"2021-09-14"
"GENCC_000110-HGNC_2398-Orphanet_441447-HP_0000006-GENCC_100009"	"HGNC:2398"	"CRYBB2"	"MONDO:0018610"	"early-onset posterior subcapsular cataract"	"Orphanet:441447"	"Orphanet:441447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2398"	"CRYBB2"	"Orphanet:441447"	"Early-onset posterior subcapsular cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21245961[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15808"	"2021-09-14"
"GENCC_000110-HGNC_2400-Orphanet_98988-HP_0000006-GENCC_100009"	"HGNC:2400"	"CRYBB3"	"MONDO:0020373"	"early-onset anterior polar cataract"	"Orphanet:98988"	"Orphanet:98988"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2400"	"CRYBB3"	"Orphanet:98988"	"Early-onset anterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23508780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15809"	"2021-09-14"
"GENCC_000110-HGNC_2400-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2400"	"CRYBB3"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2400"	"CRYBB3"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23508780[PMID]_15914629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15809"	"2021-09-14"
"GENCC_000110-HGNC_2410-Orphanet_1377-HP_0000006-GENCC_100009"	"HGNC:2410"	"CRYGC"	"MONDO:0015300"	"cataract - microcornea syndrome"	"Orphanet:1377"	"Orphanet:1377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2410"	"CRYGC"	"Orphanet:1377"	"Cataract-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876111[PMID]_19204787[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15810"	"2021-09-14"
"GENCC_000110-HGNC_2410-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:2410"	"CRYGC"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2410"	"CRYGC"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10914683[PMID]_23954869[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15810"	"2021-09-14"
"GENCC_000110-HGNC_2410-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2410"	"CRYGC"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2410"	"CRYGC"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18618005[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15810"	"2021-09-14"
"GENCC_000110-HGNC_2410-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:2410"	"CRYGC"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2410"	"CRYGC"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12011157[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15810"	"2021-09-14"
"GENCC_000110-HGNC_2411-Orphanet_1377-HP_0000006-GENCC_100009"	"HGNC:2411"	"CRYGD"	"MONDO:0015300"	"cataract - microcornea syndrome"	"Orphanet:1377"	"Orphanet:1377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2411"	"CRYGD"	"Orphanet:1377"	"Cataract-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17724170[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15811"	"2021-09-14"
"GENCC_000110-HGNC_2411-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:2411"	"CRYGD"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2411"	"CRYGD"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21866214[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15811"	"2021-09-14"
"GENCC_000110-HGNC_2411-Orphanet_98989-HP_0000006-GENCC_100009"	"HGNC:2411"	"CRYGD"	"MONDO:0020374"	"cerulean cataract"	"Orphanet:98989"	"Orphanet:98989"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2411"	"CRYGD"	"Orphanet:98989"	"Cerulean cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12676897[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15811"	"2021-09-14"
"GENCC_000110-HGNC_2411-Orphanet_98990-HP_0000006-GENCC_100009"	"HGNC:2411"	"CRYGD"	"MONDO:0020375"	"coralliform cataract"	"Orphanet:98990"	"Orphanet:98990"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2411"	"CRYGD"	"Orphanet:98990"	"Coralliform cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21552497[PMID]_18334953[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15811"	"2021-09-14"
"GENCC_000110-HGNC_2411-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2411"	"CRYGD"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2411"	"CRYGD"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21031598[PMID]_26147294[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15811"	"2021-09-14"
"GENCC_000110-HGNC_2411-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:2411"	"CRYGD"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2411"	"CRYGD"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12011157[PMID]_21866214[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15811"	"2021-09-14"
"GENCC_000110-HGNC_2436-Orphanet_264675-HP_0000007-GENCC_100009"	"HGNC:2436"	"CSF2RB"	"MONDO:0012580"	"hereditary pulmonary alveolar proteinosis"	"Orphanet:264675"	"Orphanet:264675"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2436"	"CSF2RB"	"Orphanet:264675"	"Hereditary pulmonary alveolar proteinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21075760[PMID]_21205713[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15812"	"2021-09-14"
"GENCC_000110-HGNC_2472-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:2472"	"CSRP3"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2472"	"CSRP3"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14567970[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15813"	"2021-09-14"
"GENCC_000110-HGNC_2475-Orphanet_100008-HP_0000006-GENCC_100009"	"HGNC:2475"	"CST3"	"MONDO:0007098"	"ACys amyloidosis"	"Orphanet:100008"	"Orphanet:100008"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2475"	"CST3"	"Orphanet:100008"	"ACys amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"2541223[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15814"	"2021-09-14"
"GENCC_000110-HGNC_2482-Orphanet_308-HP_0000007-GENCC_100009"	"HGNC:2482"	"CSTB"	"MONDO:0009698"	"Unverricht-Lundborg syndrome"	"Orphanet:308"	"Orphanet:308"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2482"	"CSTB"	"Orphanet:308"	"Progressive myoclonic epilepsy type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9012407[PMID]_20301321[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15815"	"2021-09-14"
"GENCC_000110-HGNC_2482-Orphanet_248-HP_0000007-GENCC_100009"	"HGNC:2482"	"CSTB"	"MONDO:0016619"	"autosomal recessive hypohidrotic ectodermal dysplasia"	"Orphanet:248"	"Orphanet:248"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2482"	"CSTB"	"Orphanet:248"	"Autosomal recessive hypohidrotic ectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30425301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15815"	"2021-09-14"
"GENCC_000110-HGNC_2498-Orphanet_48431-HP_0000007-GENCC_100009"	"HGNC:2498"	"CTDP1"	"MONDO:0011402"	"congenital cataracts-facial dysmorphism-neuropathy syndrome"	"Orphanet:48431"	"Orphanet:48431"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2498"	"CTDP1"	"Orphanet:48431"	"Congenital cataracts-facial dysmorphism-neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301787[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15816"	"2021-09-14"
"GENCC_000110-HGNC_2501-Orphanet_212-HP_0000007-GENCC_100009"	"HGNC:2501"	"CTH"	"MONDO:0009058"	"cystathioninuria"	"Orphanet:212"	"Orphanet:212"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2501"	"CTH"	"Orphanet:212"	"Cystathioninuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20584029[PMID]_19428278[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15817"	"2021-09-14"
"GENCC_000110-HGNC_2505-Orphanet_436159-HP_0000006-GENCC_100009"	"HGNC:2505"	"CTLA4"	"MONDO:0014493"	"autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency"	"Orphanet:436159"	"Orphanet:436159"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2505"	"CTLA4"	"Orphanet:436159"	"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25213377[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15818"	"2021-09-14"
"GENCC_000110-HGNC_2514-Orphanet_891-HP_0000006-GENCC_100009"	"HGNC:2514"	"CTNNB1"	"MONDO:0019516"	"exudative vitreoretinopathy"	"Orphanet:891"	"Orphanet:891"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2514"	"CTNNB1"	"Orphanet:891"	"Familial exudative vitreoretinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28575650[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15819"	"2021-09-14"
"GENCC_000110-HGNC_2514-Orphanet_404473-HP_0000005-GENCC_100009"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"Orphanet:404473"	"Orphanet:404473"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:2514"	"CTNNB1"	"Orphanet:404473"	"Severe intellectual disability-progressive spastic diplegia syndrome"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24614104[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15819"	"2021-09-14"
"GENCC_000110-HGNC_2518-Orphanet_411629-HP_0000007-GENCC_100009"	"HGNC:2518"	"CTNS"	"MONDO:0018467"	"nephropathic infantile cystinosis"	"Orphanet:411629"	"Orphanet:411629"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2518"	"CTNS"	"Orphanet:411629"	"Infantile nephropathic cystinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15820"	"2021-09-14"
"GENCC_000110-HGNC_2518-Orphanet_411634-HP_0000007-GENCC_100009"	"HGNC:2518"	"CTNS"	"MONDO:0009066"	"juvenile nephropathic cystinosis"	"Orphanet:411634"	"Orphanet:411634"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2518"	"CTNS"	"Orphanet:411634"	"Juvenile nephropathic cystinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15820"	"2021-09-14"
"GENCC_000110-HGNC_2518-Orphanet_411641-HP_0000007-GENCC_100009"	"HGNC:2518"	"CTNS"	"MONDO:0009064"	"ocular cystinosis"	"Orphanet:411641"	"Orphanet:411641"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2518"	"CTNS"	"Orphanet:411641"	"Ocular cystinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15820"	"2021-09-14"
"GENCC_000110-HGNC_9251-Orphanet_351-HP_0000007-GENCC_100009"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"galactosialidosis"	"Orphanet:351"	"Orphanet:351"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9251"	"CTSA"	"Orphanet:351"	"Galactosialidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15821"	"2021-09-14"
"GENCC_000110-HGNC_2528-Orphanet_2342-HP_0000007-GENCC_100009"	"HGNC:2528"	"CTSC"	"MONDO:0009491"	"Haim-Munk syndrome"	"Orphanet:2342"	"Orphanet:2342"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2528"	"CTSC"	"Orphanet:2342"	"Haim-Munk syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10662807[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15822"	"2021-09-14"
"GENCC_000110-HGNC_2528-Orphanet_678-HP_0000007-GENCC_100009"	"HGNC:2528"	"CTSC"	"MONDO:0009490"	"Papillon-Lefevre disease"	"Orphanet:678"	"Orphanet:678"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2528"	"CTSC"	"Orphanet:678"	"Papillon-LefÞvre syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16460249[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15822"	"2021-09-14"
"GENCC_000110-HGNC_2536-Orphanet_763-HP_0000007-GENCC_100009"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"Orphanet:763"	"Orphanet:763"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2536"	"CTSK"	"Orphanet:763"	"Pycnodysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21569238[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15823"	"2021-09-14"
"GENCC_000110-HGNC_2548-Orphanet_35858-HP_0000007-GENCC_100009"	"HGNC:2548"	"CUBN"	"MONDO:0009853"	"Imerslund-Grasbeck syndrome"	"Orphanet:35858"	"Orphanet:35858"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2548"	"CUBN"	"Orphanet:35858"	"Imerslund-Grõsbeck syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10080186[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15824"	"2021-09-14"
"GENCC_000110-HGNC_2555-Orphanet_85293-HP_0001417-GENCC_100009"	"HGNC:2555"	"CUL4B"	"MONDO:0010306"	"X-linked intellectual disability, Cabezas type"	"Orphanet:85293"	"Orphanet:85293"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2555"	"CUL4B"	"Orphanet:85293"	"X-linked intellectual disability, Cabezas type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17236139[PMID]_2000245[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15825"	"2021-09-14"
"GENCC_000110-HGNC_21024-Orphanet_2616-HP_0000007-GENCC_100009"	"HGNC:21024"	"CUL7"	"MONDO:0007477"	"3-M syndrome"	"Orphanet:2616"	"Orphanet:2616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21024"	"CUL7"	"Orphanet:2616"	"3M syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15826"	"2021-09-14"
"GENCC_000110-HGNC_2561-Orphanet_51636-HP_0000006-GENCC_100009"	"HGNC:2561"	"CXCR4"	"MONDO:0008674"	"WHIM syndrome"	"Orphanet:51636"	"Orphanet:51636"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2561"	"CXCR4"	"Orphanet:51636"	"WHIM syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12692554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15827"	"2021-09-14"
"GENCC_000110-HGNC_2570-Orphanet_90796-HP_0000007-GENCC_100009"	"HGNC:2570"	"CYB5A"	"MONDO:0019597"	"46,XY disorder of sex development due to isolated 17,20-lyase deficiency"	"Orphanet:90796"	"Orphanet:90796"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2570"	"CYB5A"	"Orphanet:90796"	"46,XY disorder of sex development due to isolated 17,20-lyase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20080843[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15829"	"2021-09-14"
"GENCC_000110-HGNC_2873-Orphanet_621-HP_0000007-GENCC_100009"	"HGNC:2873"	"CYB5R3"	"MONDO:0018963"	"hereditary methemoglobinemia"	"Orphanet:621"	"Orphanet:621"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2873"	"CYB5R3"	"Orphanet:621"	"Hereditary methemoglobinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18820099[PMID]_18202104[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15830"	"2021-09-14"
"GENCC_000110-HGNC_2578-Orphanet_379-HP_0000007-GENCC_100009"	"HGNC:2578"	"CYBB"	"MONDO:0018305"	"chronic granulomatous disease"	"Orphanet:379"	"Orphanet:379"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2578"	"CYBB"	"Orphanet:379"	"Chronic granulomatous disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15831"	"2021-09-14"
"GENCC_000110-HGNC_2578-Orphanet_319623-HP_0001417-GENCC_100009"	"HGNC:2578"	"CYBB"	"MONDO:0010389"	"X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"	"Orphanet:319623"	"Orphanet:319623"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2578"	"CYBB"	"Orphanet:319623"	"X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15831"	"2021-09-14"
"GENCC_000110-HGNC_2584-Orphanet_211-HP_0000006-GENCC_100009"	"HGNC:2584"	"CYLD"	"MONDO:0007565"	"familial cylindromatosis"	"Orphanet:211"	"Orphanet:211"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2584"	"CYLD"	"Orphanet:211"	"Familial cylindromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19462465[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15832"	"2021-09-14"
"GENCC_000110-HGNC_2584-Orphanet_867-HP_0000006-GENCC_100009"	"HGNC:2584"	"CYLD"	"MONDO:0011114"	"familial multiple trichoepithelioma"	"Orphanet:867"	"Orphanet:867"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2584"	"CYLD"	"Orphanet:867"	"Familial multiple trichoepithelioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19462465[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15832"	"2021-09-14"
"GENCC_000110-HGNC_2590-Orphanet_168558-HP_0000006-GENCC_100009"	"HGNC:2590"	"CYP11A1"	"MONDO:0013400"	"Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency"	"Orphanet:168558"	"Orphanet:168558"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2590"	"CYP11A1"	"Orphanet:168558"	"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18182448[PMID]_15507506[PMID]_11502818[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15833"	"2021-09-14"
"GENCC_000110-HGNC_2590-Orphanet_289548-HP_0000007-GENCC_100009"	"HGNC:2590"	"CYP11A1"	"MONDO:0017337"	"inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"	"Orphanet:289548"	"Orphanet:289548"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2590"	"CYP11A1"	"Orphanet:289548"	"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21880796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15833"	"2021-09-14"
"GENCC_000110-HGNC_2591-Orphanet_90795-HP_0000007-GENCC_100009"	"HGNC:2591"	"CYP11B1"	"MONDO:0008729"	"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"Orphanet:90795"	"Orphanet:90795"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2591"	"CYP11B1"	"Orphanet:90795"	"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15834"	"2021-09-14"
"GENCC_000110-HGNC_2592-Orphanet_427-HP_0000007-GENCC_100009"	"HGNC:2592"	"CYP11B2"	"MONDO:0018541"	"familial hypoaldosteronism"	"Orphanet:427"	"Orphanet:427"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2592"	"CYP11B2"	"Orphanet:427"	"Familial hypoaldosteronism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15835"	"2021-09-14"
"GENCC_000110-HGNC_2593-Orphanet_90793-HP_0000007-GENCC_100009"	"HGNC:2593"	"CYP17A1"	"MONDO:0008730"	"congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"	"Orphanet:90793"	"Orphanet:90793"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2593"	"CYP17A1"	"Orphanet:90793"	"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15836"	"2021-09-14"
"GENCC_000110-HGNC_2593-Orphanet_90796-HP_0000007-GENCC_100009"	"HGNC:2593"	"CYP17A1"	"MONDO:0019597"	"46,XY disorder of sex development due to isolated 17,20-lyase deficiency"	"Orphanet:90796"	"Orphanet:90796"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2593"	"CYP17A1"	"Orphanet:90796"	"46,XY disorder of sex development due to isolated 17,20-lyase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12466376[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15836"	"2021-09-14"
"GENCC_000110-HGNC_2594-Orphanet_91-HP_0000007-GENCC_100009"	"HGNC:2594"	"CYP19A1"	"MONDO:0013301"	"aromatase deficiency"	"Orphanet:91"	"Orphanet:91"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2594"	"CYP19A1"	"Orphanet:91"	"Aromatase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21521281[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15837"	"2021-09-14"
"GENCC_000110-HGNC_2594-Orphanet_178345-HP_0000006-GENCC_100009"	"HGNC:2594"	"CYP19A1"	"MONDO:0007690"	"aromatase excess syndrome"	"Orphanet:178345"	"Orphanet:178345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2594"	"CYP19A1"	"Orphanet:178345"	"Aromatase excess syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21470988[PMID]_22319526[PMID]_24064691[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15837"	"2021-09-14"
"GENCC_000110-HGNC_2597-Orphanet_708-HP_0000006-GENCC_100009"	"HGNC:2597"	"CYP1B1"	"MONDO:0011414"	"Peters anomaly"	"Orphanet:708"	"Orphanet:708"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2597"	"CYP1B1"	"Orphanet:708"	"Peters anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11403040[PMID]_15621878[PMID]_16735991[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15838"	"2021-09-14"
"GENCC_000110-HGNC_2597-Orphanet_98976-HP_0000006-GENCC_100009"	"HGNC:2597"	"CYP1B1"	"MONDO:0020366"	"congenital glaucoma"	"Orphanet:98976"	"Orphanet:98976"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2597"	"CYP1B1"	"Orphanet:98976"	"Congenital glaucoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21730848[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15838"	"2021-09-14"
"GENCC_000110-HGNC_2600-Orphanet_315306-HP_0000007-GENCC_100009"	"HGNC:2600"	"CYP21A2"	"MONDO:0017839"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"	"Orphanet:315306"	"Orphanet:315306"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2600"	"CYP21A2"	"Orphanet:315306"	"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15839"	"2021-09-14"
"GENCC_000110-HGNC_2600-Orphanet_315311-HP_0000007-GENCC_100009"	"HGNC:2600"	"CYP21A2"	"MONDO:0017840"	"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"	"Orphanet:315311"	"Orphanet:315311"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2600"	"CYP21A2"	"Orphanet:315311"	"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15839"	"2021-09-14"
"GENCC_000110-HGNC_2605-Orphanet_909-HP_0000007-GENCC_100009"	"HGNC:2605"	"CYP27A1"	"MONDO:0008948"	"cerebrotendinous xanthomatosis"	"Orphanet:909"	"Orphanet:909"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2605"	"CYP27A1"	"Orphanet:909"	"Cerebrotendinous xanthomatosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301583[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15840"	"2021-09-14"
"GENCC_000110-HGNC_2606-Orphanet_289157-HP_0000007-GENCC_100009"	"HGNC:2606"	"CYP27B1"	"MONDO:0009924"	"vitamin D-dependent rickets, type 1"	"Orphanet:289157"	"Orphanet:289157"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2606"	"CYP27B1"	"Orphanet:289157"	"Hypocalcemic vitamin D-dependent rickets"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15841"	"2021-09-14"
"GENCC_000110-HGNC_20580-Orphanet_289157-HP_0000007-GENCC_100009"	"HGNC:20580"	"CYP2R1"	"MONDO:0009924"	"vitamin D-dependent rickets, type 1"	"Orphanet:289157"	"Orphanet:289157"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20580"	"CYP2R1"	"Orphanet:289157"	"Hypocalcemic vitamin D-dependent rickets"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15842"	"2021-09-14"
"GENCC_000110-HGNC_23198-Orphanet_41751-HP_0000007-GENCC_100009"	"HGNC:23198"	"CYP4V2"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"Orphanet:41751"	"Orphanet:41751"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23198"	"CYP4V2"	"Orphanet:41751"	"Bietti crystalline dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15042513[PMID]_21565171[PMID]_22497028[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15843"	"2021-09-14"
"GENCC_000110-HGNC_2652-Orphanet_79302-HP_0000007-GENCC_100009"	"HGNC:2652"	"CYP7B1"	"MONDO:0013439"	"congenital bile acid synthesis defect 3"	"Orphanet:79302"	"Orphanet:79302"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2652"	"CYP7B1"	"Orphanet:79302"	"Congenital bile acid synthesis defect type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9802883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15844"	"2021-09-14"
"GENCC_000110-HGNC_2652-Orphanet_100986-HP_0000007-GENCC_100009"	"HGNC:2652"	"CYP7B1"	"MONDO:0010047"	"hereditary spastic paraplegia 5A"	"Orphanet:100986"	"Orphanet:100986"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2652"	"CYP7B1"	"Orphanet:100986"	"Autosomal recessive spastic paraplegia type 5A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15844"	"2021-09-14"
"GENCC_000110-HGNC_28358-Orphanet_79315-HP_0000006-GENCC_100009"	"HGNC:28358"	"D2HGDH"	"MONDO:0010924"	"D-2-hydroxyglutaric aciduria"	"Orphanet:79315"	"Orphanet:79315"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28358"	"D2HGDH"	"Orphanet:79315"	"D-2-hydroxyglutaric aciduria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20020533[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15845"	"2021-09-14"
"GENCC_000110-HGNC_2689-Orphanet_230-HP_0000007-GENCC_100009"	"HGNC:2689"	"DBH"	"MONDO:0009123"	"orthostatic hypotension 1"	"Orphanet:230"	"Orphanet:230"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2689"	"DBH"	"Orphanet:230"	"Dopamine beta-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301647[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15850"	"2021-09-14"
"GENCC_000110-HGNC_2698-Orphanet_268145-HP_0000007-GENCC_100009"	"HGNC:2698"	"DBT"	"MONDO:0017051"	"classic maple syrup urine disease"	"Orphanet:268145"	"Orphanet:268145"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2698"	"DBT"	"Orphanet:268145"	"Classic maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15851"	"2021-09-14"
"GENCC_000110-HGNC_2698-Orphanet_268162-HP_0000007-GENCC_100009"	"HGNC:2698"	"DBT"	"MONDO:0017052"	"intermediate maple syrup urine disease"	"Orphanet:268162"	"Orphanet:268162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2698"	"DBT"	"Orphanet:268162"	"Intermediate maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15851"	"2021-09-14"
"GENCC_000110-HGNC_2698-Orphanet_268173-HP_0000007-GENCC_100009"	"HGNC:2698"	"DBT"	"MONDO:0017053"	"intermittent maple syrup urine disease"	"Orphanet:268173"	"Orphanet:268173"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2698"	"DBT"	"Orphanet:268173"	"Intermittent maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15851"	"2021-09-14"
"GENCC_000110-HGNC_2698-Orphanet_268184-HP_0000007-GENCC_100009"	"HGNC:2698"	"DBT"	"MONDO:0017054"	"thiamine-responsive maple syrup urine disease"	"Orphanet:268184"	"Orphanet:268184"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2698"	"DBT"	"Orphanet:268184"	"Thiamine-responsive maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15851"	"2021-09-14"
"GENCC_000110-HGNC_17642-Orphanet_275-HP_0000007-GENCC_100009"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011225"	"severe combined immunodeficiency due to DCLRE1C deficiency"	"Orphanet:275"	"Orphanet:275"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17642"	"DCLRE1C"	"Orphanet:275"	"Severe combined immunodeficiency due to DCLRE1C deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12055248[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15852"	"2021-09-14"
"GENCC_000110-HGNC_17642-Orphanet_39041-HP_0000007-GENCC_100009"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011338"	"Omenn syndrome"	"Orphanet:39041"	"Orphanet:39041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17642"	"DCLRE1C"	"Orphanet:39041"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15852"	"2021-09-14"
"GENCC_000110-HGNC_2705-Orphanet_101068-HP_0000006-GENCC_100009"	"HGNC:2705"	"DCN"	"MONDO:0012401"	"congenital stromal corneal dystrophy"	"Orphanet:101068"	"Orphanet:101068"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2705"	"DCN"	"Orphanet:101068"	"Congenital stromal corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15671264[PMID]_20301741[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15853"	"2021-09-14"
"GENCC_000110-HGNC_2714-Orphanet_2148-HP_0001417-GENCC_100009"	"HGNC:2714"	"DCX"	"MONDO:0010239"	"lissencephaly type 1 due to doublecortin gene mutation"	"Orphanet:2148"	"Orphanet:2148"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2714"	"DCX"	"Orphanet:2148"	"Lissencephaly type 1 due to doublecortin gene mutation"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301364[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15854"	"2021-09-14"
"GENCC_000110-HGNC_2714-Orphanet_99796-HP_0000007-GENCC_100009"	"HGNC:2714"	"DCX"	"MONDO:0020491"	"subcortical band heterotopia"	"Orphanet:99796"	"Orphanet:99796"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2714"	"DCX"	"Orphanet:99796"	"Subcortical band heterotopia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15854"	"2021-09-14"
"GENCC_000110-HGNC_2718-Orphanet_910-HP_0000007-GENCC_100009"	"HGNC:2718"	"DDB2"	"MONDO:0019600"	"xeroderma pigmentosum"	"Orphanet:910"	"Orphanet:910"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2718"	"DDB2"	"Orphanet:910"	"Xeroderma pigmentosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15855"	"2021-09-14"
"GENCC_000110-HGNC_2719-Orphanet_35708-HP_0000007-GENCC_100009"	"HGNC:2719"	"DDC"	"MONDO:0012084"	"aromatic L-amino acid decarboxylase deficiency"	"Orphanet:35708"	"Orphanet:35708"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2719"	"DDC"	"Orphanet:35708"	"Aromatic L-amino acid decarboxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21541720[PMID]_24865461[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15856"	"2021-09-14"
"GENCC_000110-HGNC_2770-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:2770"	"DES"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2770"	"DES"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10430757[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15858"	"2021-09-14"
"GENCC_000110-HGNC_2770-Orphanet_85146-HP_0000006-GENCC_100009"	"HGNC:2770"	"DES"	"MONDO:0008407"	"neurogenic scapuloperoneal syndrome, Kaeser type"	"Orphanet:85146"	"Orphanet:85146"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2770"	"DES"	"Orphanet:85146"	"Neurogenic scapuloperoneal syndrome, Kaeser type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17439987[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15858"	"2021-09-14"
"GENCC_000110-HGNC_2810-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:2810"	"GSDME"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2810"	"GSDME"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15859"	"2021-09-14"
"GENCC_000110-HGNC_2858-Orphanet_279934-HP_0000007-GENCC_100009"	"HGNC:2858"	"DGUOK"	"MONDO:0009636"	"mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"	"Orphanet:279934"	"Orphanet:279934"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2858"	"DGUOK"	"Orphanet:279934"	"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301766[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15860"	"2021-09-14"
"GENCC_000110-HGNC_2858-Orphanet_329314-HP_0000007-GENCC_100009"	"HGNC:2858"	"DGUOK"	"MONDO:0014899"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4"	"Orphanet:329314"	"Orphanet:329314"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2858"	"DGUOK"	"Orphanet:329314"	"Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23043144[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15860"	"2021-09-14"
"GENCC_000110-HGNC_2859-Orphanet_35107-HP_0000007-GENCC_100009"	"HGNC:2859"	"DHCR24"	"MONDO:0011217"	"desmosterolosis"	"Orphanet:35107"	"Orphanet:35107"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2859"	"DHCR24"	"Orphanet:35107"	"Desmosterolosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21671375[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15861"	"2021-09-14"
"GENCC_000110-HGNC_2860-Orphanet_818-HP_0000007-GENCC_100009"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"Orphanet:818"	"Orphanet:818"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2860"	"DHCR7"	"Orphanet:818"	"Smith-Lemli-Opitz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301322[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15862"	"2021-09-14"
"GENCC_000110-HGNC_2865-Orphanet_242-HP_0000006-GENCC_100009"	"HGNC:2865"	"DHH"	"MONDO:0010765"	"46,XY complete gonadal dysgenesis"	"Orphanet:242"	"Orphanet:242"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2865"	"DHH"	"Orphanet:242"	"46,XY complete gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301714[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15863"	"2021-09-14"
"GENCC_000110-HGNC_2865-Orphanet_168563-HP_0000007-GENCC_100009"	"HGNC:2865"	"DHH"	"MONDO:0011766"	"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"	"Orphanet:168563"	"Orphanet:168563"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2865"	"DHH"	"Orphanet:168563"	"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11017805[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15863"	"2021-09-14"
"GENCC_000110-HGNC_2876-Orphanet_477814-HP_0000007-GENCC_100009"	"HGNC:2876"	"DIAPH1"	"MONDO:0014714"	"progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"	"Orphanet:477814"	"Orphanet:477814"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2876"	"DIAPH1"	"Orphanet:477814"	"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24781755[PMID]_2643574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15864"	"2021-09-14"
"GENCC_000110-HGNC_2876-Orphanet_494444-HP_0000006-GENCC_100009"	"HGNC:2876"	"DIAPH1"	"MONDO:0044635"	"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"	"Orphanet:494444"	"Orphanet:494444"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2876"	"DIAPH1"	"Orphanet:494444"	"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26912466[PMID]_27808407[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15864"	"2021-09-14"
"GENCC_000110-HGNC_2890-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:2890"	"DKC1"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2890"	"DKC1"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15869"	"2021-09-14"
"GENCC_000110-HGNC_2890-Orphanet_3322-HP_0000006-GENCC_100009"	"HGNC:2890"	"DKC1"	"MONDO:0018045"	"Hoyeraal-Hreidarsson syndrome"	"Orphanet:3322"	"Orphanet:3322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2890"	"DKC1"	"Orphanet:3322"	"Hoyeraal-Hreidarsson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15869"	"2021-09-14"
"GENCC_000110-HGNC_2896-Orphanet_79244-HP_0000007-GENCC_100009"	"HGNC:2896"	"DLAT"	"MONDO:0009502"	"pyruvate dehydrogenase E2 deficiency"	"Orphanet:79244"	"Orphanet:79244"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2896"	"DLAT"	"Orphanet:79244"	"Pyruvate dehydrogenase E2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16049940[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15870"	"2021-09-14"
"GENCC_000110-HGNC_2898-Orphanet_2394-HP_0000007-GENCC_100009"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"Orphanet:2394"	"Orphanet:2394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2898"	"DLD"	"Orphanet:2394"	"Pyruvate dehydrogenase E3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24777537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15871"	"2021-09-14"
"GENCC_000110-HGNC_2909-Orphanet_2311-HP_0000007-GENCC_100009"	"HGNC:2909"	"DLL3"	"MONDO:0010180"	"autosomal recessive spondylocostal dysostosis"	"Orphanet:2311"	"Orphanet:2311"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2909"	"DLL3"	"Orphanet:2311"	"Autosomal recessive spondylocostal dysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15873"	"2021-09-14"
"GENCC_000110-HGNC_2916-Orphanet_3352-HP_0000006-GENCC_100009"	"HGNC:2916"	"DLX3"	"MONDO:0008592"	"tricho-dento-osseous syndrome"	"Orphanet:3352"	"Orphanet:3352"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2916"	"DLX3"	"Orphanet:3352"	"Tricho-dento-osseous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18492670[PMID]_22969805[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15874"	"2021-09-14"
"GENCC_000110-HGNC_2916-Orphanet_100034-HP_0000006-GENCC_100009"	"HGNC:2916"	"DLX3"	"MONDO:0007093"	"hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"	"Orphanet:100034"	"Orphanet:100034"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2916"	"DLX3"	"Orphanet:100034"	"Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15666299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15874"	"2021-09-14"
"GENCC_000110-HGNC_2928-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:2928"	"DMD"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2928"	"DMD"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14567970[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15876"	"2021-09-14"
"GENCC_000110-HGNC_2928-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:2928"	"DMD"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2928"	"DMD"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23900271[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15876"	"2021-09-14"
"GENCC_000110-HGNC_2928-Orphanet_98895-HP_0001417-GENCC_100009"	"HGNC:2928"	"DMD"	"MONDO:0010311"	"Becker muscular dystrophy"	"Orphanet:98895"	"Orphanet:98895"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2928"	"DMD"	"Orphanet:98895"	"Becker muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15876"	"2021-09-14"
"GENCC_000110-HGNC_2928-Orphanet_98896-HP_0001417-GENCC_100009"	"HGNC:2928"	"DMD"	"MONDO:0010679"	"Duchenne muscular dystrophy"	"Orphanet:98896"	"Orphanet:98896"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2928"	"DMD"	"Orphanet:98896"	"Duchenne muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15876"	"2021-09-14"
"GENCC_000110-HGNC_2928-Orphanet_206546-HP_0001417-GENCC_100009"	"HGNC:2928"	"DMD"	"MONDO:0016097"	"symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"	"Orphanet:206546"	"Orphanet:206546"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2928"	"DMD"	"Orphanet:206546"	"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15876"	"2021-09-14"
"GENCC_000110-HGNC_2932-Orphanet_289176-HP_0000007-GENCC_100009"	"HGNC:2932"	"DMP1"	"MONDO:0017324"	"autosomal recessive hypophosphatemic rickets"	"Orphanet:289176"	"Orphanet:289176"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2932"	"DMP1"	"Orphanet:289176"	"Autosomal recessive hypophosphatemic rickets"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15877"	"2021-09-14"
"GENCC_000110-HGNC_2933-Orphanet_273-HP_0000006-GENCC_100009"	"HGNC:2933"	"DMPK"	"MONDO:0008056"	"myotonic dystrophy type 1"	"Orphanet:273"	"Orphanet:273"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2933"	"DMPK"	"Orphanet:273"	"Steinert myotonic dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23025897[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15878"	"2021-09-14"
"GENCC_000110-HGNC_2942-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:2942"	"DNAH11"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2942"	"DNAH11"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15879"	"2021-09-14"
"GENCC_000110-HGNC_2950-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:2950"	"DNAH5"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2950"	"DNAH5"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15880"	"2021-09-14"
"GENCC_000110-HGNC_2954-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:2954"	"DNAI1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2954"	"DNAI1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15881"	"2021-09-14"
"GENCC_000110-HGNC_2974-Orphanet_100044-HP_0000006-GENCC_100009"	"HGNC:2974"	"DNM2"	"MONDO:0011674"	"Charcot-Marie-Tooth disease dominant intermediate B"	"Orphanet:100044"	"Orphanet:100044"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2974"	"DNM2"	"Orphanet:100044"	"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15731758[PMID]_20614582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15882"	"2021-09-14"
"GENCC_000110-HGNC_2974-Orphanet_169189-HP_0000006-GENCC_100009"	"HGNC:2974"	"DNM2"	"MONDO:0008048"	"autosomal dominant centronuclear myopathy"	"Orphanet:169189"	"Orphanet:169189"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2974"	"DNM2"	"Orphanet:169189"	"Autosomal dominant centronuclear myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16227997[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15882"	"2021-09-14"
"GENCC_000110-HGNC_2974-Orphanet_228179-HP_0000006-GENCC_100009"	"HGNC:2974"	"DNM2"	"MONDO:0016431"	"autosomal dominant Charcot-Marie-Tooth disease type 2M"	"Orphanet:228179"	"Orphanet:228179"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2974"	"DNM2"	"Orphanet:228179"	"Autosomal dominant Charcot-Marie-Tooth disease type 2M"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18394888[PMID]_17636067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15882"	"2021-09-14"
"GENCC_000110-HGNC_2974-Orphanet_363409-HP_0000007-GENCC_100009"	"HGNC:2974"	"DNM2"	"MONDO:0014149"	"fetal akinesia-cerebral and retinal hemorrhage syndrome"	"Orphanet:363409"	"Orphanet:363409"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2974"	"DNM2"	"Orphanet:363409"	"Fetal akinesia-cerebral and retinal hemorrhage syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23092955[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15882"	"2021-09-14"
"GENCC_000110-HGNC_2979-Orphanet_2268-HP_0000007-GENCC_100009"	"HGNC:2979"	"DNMT3B"	"MONDO:0000133"	"immunodeficiency-centromeric instability-facial anomalies syndrome"	"Orphanet:2268"	"Orphanet:2268"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2979"	"DNMT3B"	"Orphanet:2268"	"ICF syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10588719[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15883"	"2021-09-14"
"GENCC_000110-HGNC_26594-Orphanet_994-HP_0000007-GENCC_100009"	"HGNC:26594"	"DOK7"	"MONDO:0100101"	"fetal akinesia deformation sequence 1"	"Orphanet:994"	"Orphanet:994"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26594"	"DOK7"	"Orphanet:994"	"Fetal akinesia deformation sequence"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19261599[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15884"	"2021-09-14"
"GENCC_000110-HGNC_26594-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:26594"	"DOK7"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26594"	"DOK7"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15884"	"2021-09-14"
"GENCC_000110-HGNC_2995-Orphanet_86309-HP_0000007-GENCC_100009"	"HGNC:2995"	"DPAGT1"	"MONDO:0011964"	"DPAGT1-congenital disorder of glycosylation"	"Orphanet:86309"	"Orphanet:86309"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2995"	"DPAGT1"	"Orphanet:86309"	"DPAGT1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15885"	"2021-09-14"
"GENCC_000110-HGNC_2995-Orphanet_353327-HP_0000007-GENCC_100009"	"HGNC:2995"	"DPAGT1"	"MONDO:0018144"	"congenital myasthenic syndromes with glycosylation defect"	"Orphanet:353327"	"Orphanet:353327"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2995"	"DPAGT1"	"Orphanet:353327"	"Congenital myasthenic syndromes with glycosylation defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23404334[PMID]_22742743[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15885"	"2021-09-14"
"GENCC_000110-HGNC_3005-Orphanet_79322-HP_0000007-GENCC_100009"	"HGNC:3005"	"DPM1"	"MONDO:0012123"	"congenital disorder of glycosylation type 1E"	"Orphanet:79322"	"Orphanet:79322"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3005"	"DPM1"	"Orphanet:79322"	"DPM1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15886"	"2021-09-14"
"GENCC_000110-HGNC_3013-Orphanet_38874-HP_0000007-GENCC_100009"	"HGNC:3013"	"DPYS"	"MONDO:0009111"	"dihydropyrimidinuria"	"Orphanet:38874"	"Orphanet:38874"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3013"	"DPYS"	"Orphanet:38874"	"Dihydropyrimidinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9718352[PMID]_20362666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15888"	"2021-09-14"
"GENCC_000110-HGNC_3048-Orphanet_50942-HP_0000006-GENCC_100009"	"HGNC:3048"	"DSG1"	"MONDO:0018865"	"striate palmoplantar keratoderma"	"Orphanet:50942"	"Orphanet:50942"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3048"	"DSG1"	"Orphanet:50942"	"Striate palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10332028[PMID]_19157795[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15893"	"2021-09-14"
"GENCC_000110-HGNC_3048-Orphanet_369992-HP_0000007-GENCC_100009"	"HGNC:3048"	"DSG1"	"MONDO:0014218"	"severe dermatitis-multiple allergies-metabolic wasting syndrome"	"Orphanet:369992"	"Orphanet:369992"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3048"	"DSG1"	"Orphanet:369992"	"Severe dermatitis-multiple allergies-metabolic wasting syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23974871[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15893"	"2021-09-14"
"GENCC_000110-HGNC_3048-Orphanet_369999-HP_0000006-GENCC_100009"	"HGNC:3048"	"DSG1"	"MONDO:0018250"	"diffuse palmoplantar keratoderma with painful fissures"	"Orphanet:369999"	"Orphanet:369999"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3048"	"DSG1"	"Orphanet:369999"	"Diffuse palmoplantar keratoderma with painful fissures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15897387[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15893"	"2021-09-14"
"GENCC_000110-HGNC_3048-Orphanet_370002-HP_0000006-GENCC_100009"	"HGNC:3048"	"DSG1"	"MONDO:0018252"	"focal palmoplantar keratoderma with joint keratoses"	"Orphanet:370002"	"Orphanet:370002"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3048"	"DSG1"	"Orphanet:370002"	"Focal palmoplantar keratoderma with joint keratoses"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16484817[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15893"	"2021-09-14"
"GENCC_000110-HGNC_3049-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:3049"	"DSG2"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3049"	"DSG2"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18678517[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15894"	"2021-09-14"
"GENCC_000110-HGNC_3052-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:3052"	"DSP"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3052"	"DSP"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30993396[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15895"	"2021-09-14"
"GENCC_000110-HGNC_3052-Orphanet_50942-HP_0000006-GENCC_100009"	"HGNC:3052"	"DSP"	"MONDO:0018865"	"striate palmoplantar keratoderma"	"Orphanet:50942"	"Orphanet:50942"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3052"	"DSP"	"Orphanet:50942"	"Striate palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9887343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15895"	"2021-09-14"
"GENCC_000110-HGNC_3052-Orphanet_65282-HP_0000006-GENCC_100009"	"HGNC:3052"	"DSP"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"Orphanet:65282"	"Orphanet:65282"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3052"	"DSP"	"Orphanet:65282"	"Carvajal syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11063735[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15895"	"2021-09-14"
"GENCC_000110-HGNC_3052-Orphanet_158687-HP_0000007-GENCC_100009"	"HGNC:3052"	"DSP"	"MONDO:0012323"	"lethal acantholytic epidermolysis bullosa"	"Orphanet:158687"	"Orphanet:158687"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3052"	"DSP"	"Orphanet:158687"	"Lethal acantholytic erosive disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16175511[PMID]_20302578[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15895"	"2021-09-14"
"GENCC_000110-HGNC_3052-Orphanet_293165-HP_0000006-GENCC_100009"	"HGNC:3052"	"DSP"	"MONDO:0011882"	"skin fragility-woolly hair-palmoplantar keratoderma syndrome"	"Orphanet:293165"	"Orphanet:293165"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3052"	"DSP"	"Orphanet:293165"	"Skin fragility-woolly hair-palmoplantar keratoderma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11841538[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15895"	"2021-09-14"
"GENCC_000110-HGNC_3052-Orphanet_369992-HP_0000007-GENCC_100009"	"HGNC:3052"	"DSP"	"MONDO:0014218"	"severe dermatitis-multiple allergies-metabolic wasting syndrome"	"Orphanet:369992"	"Orphanet:369992"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3052"	"DSP"	"Orphanet:369992"	"Severe dermatitis-multiple allergies-metabolic wasting syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26073755[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15895"	"2021-09-14"
"GENCC_000110-HGNC_3054-Orphanet_99789-HP_0000006-GENCC_100009"	"HGNC:3054"	"DSPP"	"MONDO:0007436"	"dentin dysplasia type I"	"Orphanet:99789"	"Orphanet:99789"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3054"	"DSPP"	"Orphanet:99789"	"Dentin dysplasia type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15896"	"2021-09-14"
"GENCC_000110-HGNC_3054-Orphanet_99791-HP_0000006-GENCC_100009"	"HGNC:3054"	"DSPP"	"MONDO:0007437"	"dentin dysplasia type II"	"Orphanet:99791"	"Orphanet:99791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3054"	"DSPP"	"Orphanet:99791"	"Dentin dysplasia type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15896"	"2021-09-14"
"GENCC_000110-HGNC_3054-Orphanet_166260-HP_0000006-GENCC_100009"	"HGNC:3054"	"DSPP"	"MONDO:0007441"	"dentinogenesis imperfecta type 2"	"Orphanet:166260"	"Orphanet:166260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3054"	"DSPP"	"Orphanet:166260"	"Dentinogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15896"	"2021-09-14"
"GENCC_000110-HGNC_3054-Orphanet_166265-HP_0000006-GENCC_100009"	"HGNC:3054"	"DSPP"	"MONDO:0007442"	"dentinogenesis imperfecta type 3"	"Orphanet:166265"	"Orphanet:166265"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3054"	"DSPP"	"Orphanet:166265"	"Dentinogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15896"	"2021-09-14"
"GENCC_000110-HGNC_13273-Orphanet_95716-HP_0000007-GENCC_100009"	"HGNC:13273"	"DUOX2"	"MONDO:0010132"	"familial thyroid dyshormonogenesis"	"Orphanet:95716"	"Orphanet:95716"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13273"	"DUOX2"	"Orphanet:95716"	"Familial thyroid dyshormonogenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_21543982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15900"	"2021-09-14"
"GENCC_000110-HGNC_21317-Orphanet_239-HP_0000007-GENCC_100009"	"HGNC:21317"	"DYM"	"MONDO:0009130"	"Dyggve-Melchior-Clausen disease"	"Orphanet:239"	"Orphanet:239"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21317"	"DYM"	"Orphanet:239"	"Dyggve-Melchior-Clausen disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21280149[PMID]_12554689[PMID]_18996921[PMID]_12491225[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15902"	"2021-09-14"
"GENCC_000110-HGNC_21317-Orphanet_178355-HP_0000007-GENCC_100009"	"HGNC:21317"	"DYM"	"MONDO:0015799"	"Smith-McCort dysplasia"	"Orphanet:178355"	"Orphanet:178355"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21317"	"DYM"	"Orphanet:178355"	"Smith-McCort dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15464420[PMID]_12491225[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15902"	"2021-09-14"
"GENCC_000110-HGNC_3097-Orphanet_268-HP_0000007-GENCC_100009"	"HGNC:3097"	"DYSF"	"MONDO:0009676"	"autosomal recessive limb-girdle muscular dystrophy type 2B"	"Orphanet:268"	"Orphanet:268"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3097"	"DYSF"	"Orphanet:268"	"Dysferlin-related limb-girdle muscular dystrophy R2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15903"	"2021-09-14"
"GENCC_000110-HGNC_3097-Orphanet_45448-HP_0000007-GENCC_100009"	"HGNC:3097"	"DYSF"	"MONDO:0009685"	"Miyoshi myopathy"	"Orphanet:45448"	"Orphanet:45448"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3097"	"DYSF"	"Orphanet:45448"	"Miyoshi myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18853459[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15903"	"2021-09-14"
"GENCC_000110-HGNC_3097-Orphanet_199329-HP_0000007-GENCC_100009"	"HGNC:3097"	"DYSF"	"MONDO:0016049"	"congenital myopathy, Paradas type"	"Orphanet:199329"	"Orphanet:199329"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3097"	"DYSF"	"Orphanet:199329"	"Congenital myopathy, Paradas type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19084402[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15903"	"2021-09-14"
"GENCC_000110-HGNC_3133-Orphanet_35173-HP_0001417-GENCC_100009"	"HGNC:3133"	"EBP"	"MONDO:0020603"	"X-linked chondrodysplasia punctata 2"	"Orphanet:35173"	"Orphanet:35173"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3133"	"EBP"	"Orphanet:35173"	"X-linked dominant chondrodysplasia punctata"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21634086[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15904"	"2021-09-14"
"GENCC_000110-HGNC_3133-Orphanet_401973-HP_0001417-GENCC_100009"	"HGNC:3133"	"EBP"	"MONDO:0010498"	"MEND syndrome"	"Orphanet:401973"	"Orphanet:401973"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3133"	"EBP"	"Orphanet:401973"	"MEND syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24459067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15904"	"2021-09-14"
"GENCC_000110-HGNC_3153-Orphanet_530-HP_0000007-GENCC_100009"	"HGNC:3153"	"ECM1"	"MONDO:0009530"	"lipoid proteinosis"	"Orphanet:530"	"Orphanet:530"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3153"	"ECM1"	"Orphanet:530"	"Lipoid proteinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17063986[PMID]_17927570[PMID]_18690317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15907"	"2021-09-14"
"GENCC_000110-HGNC_3157-Orphanet_181-HP_0001417-GENCC_100009"	"HGNC:3157"	"EDA"	"MONDO:0010585"	"X-linked hypohidrotic ectodermal dysplasia"	"Orphanet:181"	"Orphanet:181"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3157"	"EDA"	"Orphanet:181"	"X-linked hypohidrotic ectodermal dysplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15908"	"2021-09-14"
"GENCC_000110-HGNC_3157-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:3157"	"EDA"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3157"	"EDA"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15908"	"2021-09-14"
"GENCC_000110-HGNC_2895-Orphanet_248-HP_0000007-GENCC_100009"	"HGNC:2895"	"EDAR"	"MONDO:0016619"	"autosomal recessive hypohidrotic ectodermal dysplasia"	"Orphanet:248"	"Orphanet:248"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2895"	"EDAR"	"Orphanet:248"	"Autosomal recessive hypohidrotic ectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15909"	"2021-09-14"
"GENCC_000110-HGNC_2895-Orphanet_1810-HP_0000006-GENCC_100009"	"HGNC:2895"	"EDAR"	"MONDO:0015884"	"autosomal dominant hypohidrotic ectodermal dysplasia"	"Orphanet:1810"	"Orphanet:1810"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2895"	"EDAR"	"Orphanet:1810"	"Autosomal dominant hypohidrotic ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15909"	"2021-09-14"
"GENCC_000110-HGNC_14341-Orphanet_248-HP_0000007-GENCC_100009"	"HGNC:14341"	"EDARADD"	"MONDO:0016619"	"autosomal recessive hypohidrotic ectodermal dysplasia"	"Orphanet:248"	"Orphanet:248"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14341"	"EDARADD"	"Orphanet:248"	"Autosomal recessive hypohidrotic ectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15910"	"2021-09-14"
"GENCC_000110-HGNC_14341-Orphanet_1810-HP_0000006-GENCC_100009"	"HGNC:14341"	"EDARADD"	"MONDO:0015884"	"autosomal dominant hypohidrotic ectodermal dysplasia"	"Orphanet:1810"	"Orphanet:1810"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14341"	"EDARADD"	"Orphanet:1810"	"Autosomal dominant hypohidrotic ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15910"	"2021-09-14"
"GENCC_000110-HGNC_14341-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:14341"	"EDARADD"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14341"	"EDARADD"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15910"	"2021-09-14"
"GENCC_000110-HGNC_3178-Orphanet_897-HP_0000006-GENCC_100009"	"HGNC:3178"	"EDN3"	"MONDO:0019518"	"Waardenburg-Shah syndrome"	"Orphanet:897"	"Orphanet:897"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3178"	"EDN3"	"Orphanet:897"	"Waardenburg-Shah syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19764030[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15911"	"2021-09-14"
"GENCC_000110-HGNC_3180-Orphanet_895-HP_0000006-GENCC_100009"	"HGNC:3180"	"EDNRB"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"Orphanet:895"	"Orphanet:895"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3180"	"EDNRB"	"Orphanet:895"	"Waardenburg syndrome type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28236341[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15912"	"2021-09-14"
"GENCC_000110-HGNC_3180-Orphanet_897-HP_0000006-GENCC_100009"	"HGNC:3180"	"EDNRB"	"MONDO:0019518"	"Waardenburg-Shah syndrome"	"Orphanet:897"	"Orphanet:897"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3180"	"EDNRB"	"Orphanet:897"	"Waardenburg-Shah syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15912"	"2021-09-14"
"GENCC_000110-HGNC_3218-Orphanet_75376-HP_0000006-GENCC_100009"	"HGNC:3218"	"EFEMP1"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"Orphanet:75376"	"Orphanet:75376"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3218"	"EFEMP1"	"Orphanet:75376"	"Familial drusen"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19850834[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15913"	"2021-09-14"
"GENCC_000110-HGNC_3219-Orphanet_90349-HP_0000007-GENCC_100009"	"HGNC:3219"	"EFEMP2"	"MONDO:0019572"	"autosomal recessive cutis laxa type 1"	"Orphanet:90349"	"Orphanet:90349"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3219"	"EFEMP2"	"Orphanet:90349"	"Autosomal recessive cutis laxa type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16685658[PMID]_19664000[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15914"	"2021-09-14"
"GENCC_000110-HGNC_3219-Orphanet_314718-HP_0000007-GENCC_100009"	"HGNC:3219"	"EFEMP2"	"MONDO:0017818"	"lethal arteriopathy syndrome due to fibulin-4 deficiency"	"Orphanet:314718"	"Orphanet:314718"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3219"	"EFEMP2"	"Orphanet:314718"	"Lethal arteriopathy syndrome due to fibulin-4 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22943132[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15914"	"2021-09-14"
"GENCC_000110-HGNC_3226-Orphanet_1520-HP_0001417-GENCC_100009"	"HGNC:3226"	"EFNB1"	"MONDO:0010570"	"craniofrontonasal syndrome"	"Orphanet:1520"	"Orphanet:1520"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3226"	"EFNB1"	"Orphanet:1520"	"Craniofrontonasal dysplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15124102[PMID]_15166289[PMID]_15959873[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15916"	"2021-09-14"
"GENCC_000110-HGNC_3236-Orphanet_294023-HP_0000007-GENCC_100009"	"HGNC:3236"	"EGFR"	"MONDO:0017411"	"neonatal inflammatory skin and bowel disease"	"Orphanet:294023"	"Orphanet:294023"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3236"	"EGFR"	"Orphanet:294023"	"Neonatal inflammatory skin and bowel disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24691054[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15917"	"2021-09-14"
"GENCC_000110-HGNC_3239-Orphanet_64748-HP_0000006-GENCC_100009"	"HGNC:3239"	"EGR2"	"MONDO:0007790"	"Charcot-Marie-Tooth disease type 3"	"Orphanet:64748"	"Orphanet:64748"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3239"	"EGR2"	"Orphanet:64748"	"Dejerine-Sottas syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11523566[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15918"	"2021-09-14"
"GENCC_000110-HGNC_3239-Orphanet_99951-HP_0000007-GENCC_100009"	"HGNC:3239"	"EGR2"	"MONDO:0011527"	"Charcot-Marie-Tooth disease type 4E"	"Orphanet:99951"	"Orphanet:99951"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3239"	"EGR2"	"Orphanet:99951"	"Charcot-Marie-Tooth disease type 4E"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15918"	"2021-09-14"
"GENCC_000110-HGNC_3239-Orphanet_101084-HP_0000006-GENCC_100009"	"HGNC:3239"	"EGR2"	"MONDO:0011890"	"Charcot-Marie-Tooth disease type 1D"	"Orphanet:101084"	"Orphanet:101084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3239"	"EGR2"	"Orphanet:101084"	"Charcot-Marie-Tooth disease type 1D"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15918"	"2021-09-14"
"GENCC_000110-HGNC_3255-Orphanet_1667-HP_0000007-GENCC_100009"	"HGNC:3255"	"EIF2AK3"	"MONDO:0009192"	"Wolcott-Rallison syndrome"	"Orphanet:1667"	"Orphanet:1667"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3255"	"EIF2AK3"	"Orphanet:1667"	"Wolcott-Rallison syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21050479[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15919"	"2021-09-14"
"GENCC_000110-HGNC_3257-Orphanet_99853-HP_0000007-GENCC_100009"	"HGNC:3257"	"EIF2B1"	"MONDO:0020506"	"ovarioleukodystrophy"	"Orphanet:99853"	"Orphanet:99853"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3257"	"EIF2B1"	"Orphanet:99853"	"Ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301435[PMID]_15136673[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15920"	"2021-09-14"
"GENCC_000110-HGNC_3258-Orphanet_99853-HP_0000007-GENCC_100009"	"HGNC:3258"	"EIF2B2"	"MONDO:0020506"	"ovarioleukodystrophy"	"Orphanet:99853"	"Orphanet:99853"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3258"	"EIF2B2"	"Orphanet:99853"	"Ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301435[PMID]_15136673[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15921"	"2021-09-14"
"GENCC_000110-HGNC_3259-Orphanet_99853-HP_0000007-GENCC_100009"	"HGNC:3259"	"EIF2B3"	"MONDO:0020506"	"ovarioleukodystrophy"	"Orphanet:99853"	"Orphanet:99853"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3259"	"EIF2B3"	"Orphanet:99853"	"Ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301435[PMID]_15136673[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15922"	"2021-09-14"
"GENCC_000110-HGNC_3260-Orphanet_99853-HP_0000007-GENCC_100009"	"HGNC:3260"	"EIF2B4"	"MONDO:0020506"	"ovarioleukodystrophy"	"Orphanet:99853"	"Orphanet:99853"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3260"	"EIF2B4"	"Orphanet:99853"	"Ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301435[PMID]_15136673[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15923"	"2021-09-14"
"GENCC_000110-HGNC_3261-Orphanet_99853-HP_0000007-GENCC_100009"	"HGNC:3261"	"EIF2B5"	"MONDO:0020506"	"ovarioleukodystrophy"	"Orphanet:99853"	"Orphanet:99853"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3261"	"EIF2B5"	"Orphanet:99853"	"Ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301435[PMID]_15136673[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15924"	"2021-09-14"
"GENCC_000110-HGNC_468-Orphanet_45-HP_0000007-GENCC_100009"	"HGNC:468"	"AMPD1"	"MONDO:0013028"	"adenosine monophosphate deaminase deficiency"	"Orphanet:45"	"Orphanet:45"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:468"	"AMPD1"	"Orphanet:45"	"Adenosine monophosphate deaminase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15926"	"2021-09-14"
"GENCC_000110-HGNC_470-Orphanet_45-HP_0000007-GENCC_100009"	"HGNC:470"	"AMPD3"	"MONDO:0013028"	"adenosine monophosphate deaminase deficiency"	"Orphanet:45"	"Orphanet:45"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:470"	"AMPD3"	"Orphanet:45"	"Adenosine monophosphate deaminase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8004104[PMID]_11139257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15928"	"2021-09-14"
"GENCC_000110-HGNC_473-Orphanet_289857-HP_0000007-GENCC_100009"	"HGNC:473"	"AMT"	"MONDO:0017353"	"neonatal glycine encephalopathy"	"Orphanet:289857"	"Orphanet:289857"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:473"	"AMT"	"Orphanet:289857"	"Neonatal glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15929"	"2021-09-14"
"GENCC_000110-HGNC_473-Orphanet_289860-HP_0000007-GENCC_100009"	"HGNC:473"	"AMT"	"MONDO:0017354"	"infantile glycine encephalopathy"	"Orphanet:289860"	"Orphanet:289860"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:473"	"AMT"	"Orphanet:289860"	"Infantile glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15929"	"2021-09-14"
"GENCC_000110-HGNC_473-Orphanet_289863-HP_0000005-GENCC_100009"	"HGNC:473"	"AMT"	"MONDO:0015010"	"atypical glycine encephalopathy"	"Orphanet:289863"	"Orphanet:289863"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:473"	"AMT"	"Orphanet:289863"	"Atypical glycine encephalopathy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15929"	"2021-09-14"
"GENCC_000110-HGNC_492-Orphanet_822-HP_0000006-GENCC_100009"	"HGNC:492"	"ANK1"	"MONDO:0019350"	"hereditary spherocytosis"	"Orphanet:822"	"Orphanet:822"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:492"	"ANK1"	"Orphanet:822"	"Hereditary spherocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15930"	"2021-09-14"
"GENCC_000110-HGNC_15492-Orphanet_1416-HP_0000006-GENCC_100009"	"HGNC:15492"	"ANKH"	"MONDO:0007319"	"chondrocalcinosis 2"	"Orphanet:1416"	"Orphanet:1416"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15492"	"ANKH"	"Orphanet:1416"	"Familial calcium pyrophosphate deposition"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21102543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15932"	"2021-09-14"
"GENCC_000110-HGNC_15492-Orphanet_1522-HP_0000006-GENCC_100009"	"HGNC:15492"	"ANKH"	"MONDO:0015465"	"craniometaphyseal dysplasia"	"Orphanet:1522"	"Orphanet:1522"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15492"	"ANKH"	"Orphanet:1522"	"Craniometaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_11326338[PMID]_11326272[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15932"	"2021-09-14"
"GENCC_000110-HGNC_21732-Orphanet_2028-HP_0000007-GENCC_100009"	"HGNC:21732"	"ANTXR2"	"MONDO:0016071"	"juvenile hyaline fibromatosis"	"Orphanet:2028"	"Orphanet:2028"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21732"	"ANTXR2"	"Orphanet:2028"	"Juvenile hyaline fibromatosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14508707[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15933"	"2021-09-14"
"GENCC_000110-HGNC_21732-Orphanet_2176-HP_0000007-GENCC_100009"	"HGNC:21732"	"ANTXR2"	"MONDO:0016331"	"infantile systemic hyalinosis"	"Orphanet:2176"	"Orphanet:2176"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21732"	"ANTXR2"	"Orphanet:2176"	"Infantile systemic hyalinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14508707[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15933"	"2021-09-14"
"GENCC_000110-HGNC_566-Orphanet_183678-HP_0000007-GENCC_100009"	"HGNC:566"	"AP3B1"	"MONDO:0011997"	"Hermansky-Pudlak syndrome 2"	"Orphanet:183678"	"Orphanet:183678"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:566"	"AP3B1"	"Orphanet:183678"	"Hermansky-Pudlak syndrome with neutropenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15934"	"2021-09-14"
"GENCC_000110-HGNC_600-Orphanet_425-HP_0000006-GENCC_100009"	"HGNC:600"	"APOA1"	"MONDO:0100189"	"apolipoprotein A-I deficiency"	"Orphanet:425"	"Orphanet:425"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:600"	"APOA1"	"Orphanet:425"	"Apolipoprotein A-I deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8240372[PMID]_8282791[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15936"	"2021-09-14"
"GENCC_000110-HGNC_600-Orphanet_93560-HP_0000006-GENCC_100009"	"HGNC:600"	"APOA1"	"MONDO:0019731"	"AApoAI amyloidosis"	"Orphanet:93560"	"Orphanet:93560"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:600"	"APOA1"	"Orphanet:93560"	"AApoAI amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19324996[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15936"	"2021-09-14"
"GENCC_000110-HGNC_603-Orphanet_391665-HP_0000007-GENCC_100009"	"HGNC:603"	"APOB"	"MONDO:0018328"	"homozygous familial hypercholesterolemia"	"Orphanet:391665"	"Orphanet:391665"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:603"	"APOB"	"Orphanet:391665"	"Homozygous familial hypercholesterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24404629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15938"	"2021-09-14"
"GENCC_000110-HGNC_609-Orphanet_309020-HP_0000007-GENCC_100009"	"HGNC:609"	"APOC2"	"MONDO:0008810"	"familial apolipoprotein C-II deficiency"	"Orphanet:309020"	"Orphanet:309020"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:609"	"APOC2"	"Orphanet:309020"	"Familial apolipoprotein C-II deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24589565[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15939"	"2021-09-14"
"GENCC_000110-HGNC_613-Orphanet_158029-HP_0000006-GENCC_100009"	"HGNC:613"	"APOE"	"MONDO:0010017"	"sea-blue histiocyte syndrome"	"Orphanet:158029"	"Orphanet:158029"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:613"	"APOE"	"Orphanet:158029"	"Sea-blue histiocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11095479[PMID]_24921113[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15940"	"2021-09-14"
"GENCC_000110-HGNC_613-Orphanet_329481-HP_0000006-GENCC_100009"	"HGNC:613"	"APOE"	"MONDO:0012725"	"lipoprotein glomerulopathy"	"Orphanet:329481"	"Orphanet:329481"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:613"	"APOE"	"Orphanet:329481"	"Lipoprotein glomerulopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21464714[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15940"	"2021-09-14"
"GENCC_000110-HGNC_620-Orphanet_1020-HP_0000006-GENCC_100009"	"HGNC:620"	"APP"	"MONDO:0015140"	"early-onset autosomal dominant Alzheimer disease"	"Orphanet:1020"	"Orphanet:1020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:620"	"APP"	"Orphanet:1020"	"Early-onset autosomal dominant Alzheimer disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301414[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15941"	"2021-09-14"
"GENCC_000110-HGNC_620-Orphanet_100006-HP_0000006-GENCC_100009"	"HGNC:620"	"APP"	"MONDO:0015033"	"ABeta amyloidosis, dutch type"	"Orphanet:100006"	"Orphanet:100006"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:620"	"APP"	"Orphanet:100006"	"ABeta amyloidosis, Dutch type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24870607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15941"	"2021-09-14"
"GENCC_000110-HGNC_620-Orphanet_324703-HP_0000006-GENCC_100009"	"HGNC:620"	"APP"	"MONDO:0017945"	"ABetaL34V amyloidosis"	"Orphanet:324703"	"Orphanet:324703"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:620"	"APP"	"Orphanet:324703"	"ABetaL34V amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16178030[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15941"	"2021-09-14"
"GENCC_000110-HGNC_620-Orphanet_324708-HP_0000006-GENCC_100009"	"HGNC:620"	"APP"	"MONDO:0017946"	"ABeta amyloidosis, Iowa type"	"Orphanet:324708"	"Orphanet:324708"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:620"	"APP"	"Orphanet:324708"	"ABeta amyloidosis, Iowa type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12557012[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15941"	"2021-09-14"
"GENCC_000110-HGNC_620-Orphanet_324713-HP_0000006-GENCC_100009"	"HGNC:620"	"APP"	"MONDO:0017947"	"ABeta amyloidosis, Italian type"	"Orphanet:324713"	"Orphanet:324713"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:620"	"APP"	"Orphanet:324713"	"ABeta amyloidosis, Italian type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20697050[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15941"	"2021-09-14"
"GENCC_000110-HGNC_620-Orphanet_324718-HP_0000006-GENCC_100009"	"HGNC:620"	"APP"	"MONDO:0017948"	"ABetaA21G amyloidosis"	"Orphanet:324718"	"Orphanet:324718"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:620"	"APP"	"Orphanet:324718"	"ABetaA21G amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1303239[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15941"	"2021-09-14"
"GENCC_000110-HGNC_620-Orphanet_324723-HP_0000006-GENCC_100009"	"HGNC:620"	"APP"	"MONDO:0017949"	"ABeta amyloidosis, Arctic type"	"Orphanet:324723"	"Orphanet:324723"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:620"	"APP"	"Orphanet:324723"	"ABeta amyloidosis, Arctic type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18413473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15941"	"2021-09-14"
"GENCC_000110-HGNC_626-Orphanet_976-HP_0000007-GENCC_100009"	"HGNC:626"	"APRT"	"MONDO:0013869"	"adenine phosphoribosyltransferase deficiency"	"Orphanet:976"	"Orphanet:976"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:626"	"APRT"	"Orphanet:976"	"Adenine phosphoribosyltransferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22934314[PMID]_22700886[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15943"	"2021-09-14"
"GENCC_000110-HGNC_15984-Orphanet_1168-HP_0000007-GENCC_100009"	"HGNC:15984"	"APTX"	"MONDO:0008842"	"ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"	"Orphanet:1168"	"Orphanet:1168"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15984"	"APTX"	"Orphanet:1168"	"Ataxia-oculomotor apraxia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15944"	"2021-09-14"
"GENCC_000110-HGNC_634-Orphanet_223-HP_0000006-GENCC_100009"	"HGNC:634"	"AQP2"	"MONDO:0016383"	"nephrogenic diabetes insipidus"	"Orphanet:223"	"Orphanet:223"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:634"	"AQP2"	"Orphanet:223"	"Nephrogenic diabetes insipidus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301356[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15945"	"2021-09-14"
"GENCC_000110-HGNC_15853-Orphanet_98892-HP_0000006-GENCC_100009"	"HGNC:15853"	"ARFGEF2"	"MONDO:0020341"	"periventricular nodular heterotopia"	"Orphanet:98892"	"Orphanet:98892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15853"	"ARFGEF2"	"Orphanet:98892"	"Periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14647276[PMID]_25160555[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15946"	"2021-09-14"
"GENCC_000110-HGNC_663-Orphanet_90-HP_0000007-GENCC_100009"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"hyperargininemia"	"Orphanet:90"	"Orphanet:90"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:663"	"ARG1"	"Orphanet:90"	"Argininemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301338[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15947"	"2021-09-14"
"GENCC_000110-HGNC_13210-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:13210"	"ARL6"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13210"	"ARL6"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15949"	"2021-09-14"
"GENCC_000110-HGNC_13210-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:13210"	"ARL6"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13210"	"ARL6"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15949"	"2021-09-14"
"GENCC_000110-HGNC_719-Orphanet_79345-HP_0001417-GENCC_100009"	"HGNC:719"	"ARSL"	"MONDO:0010555"	"X-linked chondrodysplasia punctata 1"	"Orphanet:79345"	"Orphanet:79345"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:719"	"ARSL"	"Orphanet:79345"	"Brachytelephalangic chondrodysplasia punctata"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301713[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15953"	"2021-09-14"
"GENCC_000110-HGNC_18060-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:18060"	"ARX"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18060"	"ARX"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22196487[PMID]_20506206[PMID]_22787626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15955"	"2021-09-14"
"GENCC_000110-HGNC_18060-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:18060"	"ARX"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18060"	"ARX"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20506206[PMID]_22787626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15955"	"2021-09-14"
"GENCC_000110-HGNC_18060-Orphanet_2508-HP_0001417-GENCC_100009"	"HGNC:18060"	"ARX"	"MONDO:0010224"	"corpus callosum agenesis-abnormal genitalia syndrome"	"Orphanet:2508"	"Orphanet:2508"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18060"	"ARX"	"Orphanet:2508"	"Corpus callosum agenesis-abnormal genitalia syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14722918[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15955"	"2021-09-14"
"GENCC_000110-HGNC_18060-Orphanet_3175-HP_0001417-GENCC_100009"	"HGNC:18060"	"ARX"	"MONDO:0017856"	"X-linked spasticity-intellectual disability-epilepsy syndrome"	"Orphanet:3175"	"Orphanet:3175"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18060"	"ARX"	"Orphanet:3175"	"X-linked spasticity-intellectual disability-epilepsy syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12177367[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15955"	"2021-09-14"
"GENCC_000110-HGNC_18060-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:18060"	"ARX"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18060"	"ARX"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15850492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15955"	"2021-09-14"
"GENCC_000110-HGNC_18060-Orphanet_452-HP_0001417-GENCC_100009"	"HGNC:18060"	"ARX"	"MONDO:0010268"	"X-linked lissencephaly with abnormal genitalia"	"Orphanet:452"	"Orphanet:452"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18060"	"ARX"	"Orphanet:452"	"X-linked lissencephaly with abnormal genitalia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12379852[PMID]_12874405[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15955"	"2021-09-14"
"GENCC_000110-HGNC_18060-Orphanet_94083-HP_0001417-GENCC_100009"	"HGNC:18060"	"ARX"	"MONDO:0010654"	"Partington syndrome"	"Orphanet:94083"	"Orphanet:94083"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18060"	"ARX"	"Orphanet:94083"	"Partington syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11889467[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15955"	"2021-09-14"
"GENCC_000110-HGNC_18060-Orphanet_364063-HP_0001417-GENCC_100009"	"HGNC:18060"	"ARX"	"MONDO:0018226"	"infantile epileptic-dyskinetic encephalopathy"	"Orphanet:364063"	"Orphanet:364063"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18060"	"ARX"	"Orphanet:364063"	"Infantile epileptic-dyskinetic encephalopathy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17664401[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15955"	"2021-09-14"
"GENCC_000110-HGNC_735-Orphanet_333-HP_0000007-GENCC_100009"	"HGNC:735"	"ASAH1"	"MONDO:0009218"	"Farber lipogranulomatosis"	"Orphanet:333"	"Orphanet:333"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:735"	"ASAH1"	"Orphanet:333"	"Farber disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24355074[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15956"	"2021-09-14"
"GENCC_000110-HGNC_735-Orphanet_2590-HP_0000007-GENCC_100009"	"HGNC:735"	"ASAH1"	"MONDO:0008045"	"spinal muscular atrophy-progressive myoclonic epilepsy syndrome"	"Orphanet:2590"	"Orphanet:2590"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:735"	"ASAH1"	"Orphanet:2590"	"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22703880[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15956"	"2021-09-14"
"GENCC_000110-HGNC_746-Orphanet_23-HP_0000007-GENCC_100009"	"HGNC:746"	"ASL"	"MONDO:0008815"	"argininosuccinic aciduria"	"Orphanet:23"	"Orphanet:23"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:746"	"ASL"	"Orphanet:23"	"Argininosuccinic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12384776[PMID]_21290785[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15957"	"2021-09-14"
"GENCC_000110-HGNC_756-Orphanet_314911-HP_0000007-GENCC_100009"	"HGNC:756"	"ASPA"	"MONDO:0017830"	"severe Canavan disease"	"Orphanet:314911"	"Orphanet:314911"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:756"	"ASPA"	"Orphanet:314911"	"Severe Canavan disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301412[PMID]_21625469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15958"	"2021-09-14"
"GENCC_000110-HGNC_756-Orphanet_314918-HP_0000007-GENCC_100009"	"HGNC:756"	"ASPA"	"MONDO:0017831"	"mild Canavan disease"	"Orphanet:314918"	"Orphanet:314918"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:756"	"ASPA"	"Orphanet:314918"	"Mild Canavan disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301412[PMID]_21625469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15958"	"2021-09-14"
"GENCC_000110-HGNC_19048-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:19048"	"ASPM"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19048"	"ASPM"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15959"	"2021-09-14"
"GENCC_000110-HGNC_758-Orphanet_247546-HP_0000007-GENCC_100009"	"HGNC:758"	"ASS1"	"MONDO:0016600"	"acute neonatal citrullinemia type I"	"Orphanet:247546"	"Orphanet:247546"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:758"	"ASS1"	"Orphanet:247546"	"Acute neonatal citrullinemia type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301631[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15960"	"2021-09-14"
"GENCC_000110-HGNC_758-Orphanet_247573-HP_0000007-GENCC_100009"	"HGNC:758"	"ASS1"	"MONDO:0016601"	"adult-onset citrullinemia type I"	"Orphanet:247573"	"Orphanet:247573"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:758"	"ASS1"	"Orphanet:247573"	"Adult-onset citrullinemia type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301631[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15960"	"2021-09-14"
"GENCC_000110-HGNC_779-Orphanet_94122-HP_0000007-GENCC_100009"	"HGNC:779"	"ATCAY"	"MONDO:0011025"	"Cayman type cerebellar ataxia"	"Orphanet:94122"	"Orphanet:94122"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:779"	"ATCAY"	"Orphanet:94122"	"Cerebellar ataxia, Cayman type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301317[PMID]_14556008[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15961"	"2021-09-14"
"GENCC_000110-HGNC_795-Orphanet_100-HP_0000007-GENCC_100009"	"HGNC:795"	"ATM"	"MONDO:0008840"	"ataxia telangiectasia"	"Orphanet:100"	"Orphanet:100"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:795"	"ATM"	"Orphanet:100"	"Ataxia-telangiectasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301790[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15962"	"2021-09-14"
"GENCC_000110-HGNC_3033-Orphanet_101-HP_0000006-GENCC_100009"	"HGNC:3033"	"ATN1"	"MONDO:0007435"	"dentatorubral-pallidoluysian atrophy"	"Orphanet:101"	"Orphanet:101"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3033"	"ATN1"	"Orphanet:101"	"Dentatorubral pallidoluysian atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15963"	"2021-09-14"
"GENCC_000110-HGNC_30213-Orphanet_314632-HP_0000007-GENCC_100009"	"HGNC:30213"	"ATP13A2"	"MONDO:0017809"	"parkinsonism due to ATP13A2 deficiency"	"Orphanet:314632"	"Orphanet:314632"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30213"	"ATP13A2"	"Orphanet:314632"	"ATP13A2-related juvenile neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22388936[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15965"	"2021-09-14"
"GENCC_000110-HGNC_30213-Orphanet_513436-HP_0000007-GENCC_100009"	"HGNC:30213"	"ATP13A2"	"MONDO:0014975"	"autosomal recessive spastic paraplegia type 78"	"Orphanet:513436"	"Orphanet:513436"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30213"	"ATP13A2"	"Orphanet:513436"	"Autosomal recessive spastic paraplegia type 78"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28137957[PMID]_29112700[PMID]_27217339[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15965"	"2021-09-14"
"GENCC_000110-HGNC_800-Orphanet_2131-HP_0000006-GENCC_100009"	"HGNC:800"	"ATP1A2"	"MONDO:0016241"	"alternating hemiplegia of childhood"	"Orphanet:2131"	"Orphanet:2131"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:800"	"ATP1A2"	"Orphanet:2131"	"Alternating hemiplegia of childhood"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15286158[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15966"	"2021-09-14"
"GENCC_000110-HGNC_800-Orphanet_569-HP_0000006-GENCC_100009"	"HGNC:800"	"ATP1A2"	"MONDO:0018925"	"familial or sporadic hemiplegic migraine"	"Orphanet:569"	"Orphanet:569"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:800"	"ATP1A2"	"Orphanet:569"	"Familial or sporadic hemiplegic migraine"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301562[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15966"	"2021-09-14"
"GENCC_000110-HGNC_801-Orphanet_2131-HP_0000006-GENCC_100009"	"HGNC:801"	"ATP1A3"	"MONDO:0016241"	"alternating hemiplegia of childhood"	"Orphanet:2131"	"Orphanet:2131"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:801"	"ATP1A3"	"Orphanet:2131"	"Alternating hemiplegia of childhood"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22842232[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15967"	"2021-09-14"
"GENCC_000110-HGNC_801-Orphanet_1171-HP_0000006-GENCC_100009"	"HGNC:801"	"ATP1A3"	"MONDO:0011038"	"cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"	"Orphanet:1171"	"Orphanet:1171"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:801"	"ATP1A3"	"Orphanet:1171"	"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24468074[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15967"	"2021-09-14"
"GENCC_000110-HGNC_801-Orphanet_71517-HP_0000006-GENCC_100009"	"HGNC:801"	"ATP1A3"	"MONDO:0007496"	"dystonia 12"	"Orphanet:71517"	"Orphanet:71517"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:801"	"ATP1A3"	"Orphanet:71517"	"Rapid-onset dystonia-parkinsonism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15967"	"2021-09-14"
"GENCC_000110-HGNC_3309-Orphanet_486-HP_0000006-GENCC_100009"	"HGNC:3309"	"ELANE"	"MONDO:0008742"	"autosomal dominant severe congenital neutropenia"	"Orphanet:486"	"Orphanet:486"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3309"	"ELANE"	"Orphanet:486"	"Autosomal dominant severe congenital neutropenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15969"	"2021-09-14"
"GENCC_000110-HGNC_3309-Orphanet_2686-HP_0000006-GENCC_100009"	"HGNC:3309"	"ELANE"	"MONDO:0008090"	"cyclic hematopoiesis"	"Orphanet:2686"	"Orphanet:2686"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3309"	"ELANE"	"Orphanet:2686"	"Cyclic neutropenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14673143[PMID]_10581030[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15969"	"2021-09-14"
"GENCC_000110-HGNC_14198-Orphanet_369913-HP_0000007-GENCC_100009"	"HGNC:14198"	"ELAC2"	"MONDO:0014190"	"combined oxidative phosphorylation defect type 17"	"Orphanet:369913"	"Orphanet:369913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14198"	"ELAC2"	"Orphanet:369913"	"Combined oxidative phosphorylation defect type 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23849775[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15970"	"2021-09-14"
"GENCC_000110-HGNC_3327-Orphanet_3193-HP_0000006-GENCC_100009"	"HGNC:3327"	"ELN"	"MONDO:0008504"	"supravalvular aortic stenosis"	"Orphanet:3193"	"Orphanet:3193"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3327"	"ELN"	"Orphanet:3193"	"Supravalvular aortic stenosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10942104[PMID]_19844261[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15971"	"2021-09-14"
"GENCC_000110-HGNC_3327-Orphanet_90348-HP_0000006-GENCC_100009"	"HGNC:3327"	"ELN"	"MONDO:0019571"	"autosomal dominant cutis laxa"	"Orphanet:90348"	"Orphanet:90348"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3327"	"ELN"	"Orphanet:90348"	"Autosomal dominant cutis laxa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16085695[PMID]_18348261[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15971"	"2021-09-14"
"GENCC_000110-HGNC_14415-Orphanet_827-HP_0000006-GENCC_100009"	"HGNC:14415"	"ELOVL4"	"MONDO:0019353"	"Stargardt disease"	"Orphanet:827"	"Orphanet:827"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14415"	"ELOVL4"	"Orphanet:827"	"Stargardt disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20633576[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15972"	"2021-09-14"
"GENCC_000110-HGNC_14415-Orphanet_1955-HP_0000006-GENCC_100009"	"HGNC:14415"	"ELOVL4"	"MONDO:0007574"	"spinocerebellar ataxia type 34"	"Orphanet:1955"	"Orphanet:1955"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14415"	"ELOVL4"	"Orphanet:1955"	"Spinocerebellar ataxia type 34"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24566826[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15972"	"2021-09-14"
"GENCC_000110-HGNC_14415-Orphanet_352333-HP_0000007-GENCC_100009"	"HGNC:14415"	"ELOVL4"	"MONDO:0013760"	"congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"	"Orphanet:352333"	"Orphanet:352333"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14415"	"ELOVL4"	"Orphanet:352333"	"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22100072[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15972"	"2021-09-14"
"GENCC_000110-HGNC_3331-Orphanet_98863-HP_0001417-GENCC_100009"	"HGNC:3331"	"EMD"	"MONDO:0010680"	"X-linked Emery-Dreifuss muscular dystrophy"	"Orphanet:98863"	"Orphanet:98863"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3331"	"EMD"	"Orphanet:98863"	"X-linked Emery-Dreifuss muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15973"	"2021-09-14"
"GENCC_000110-HGNC_3344-Orphanet_100031-HP_0000006-GENCC_100009"	"HGNC:3344"	"ENAM"	"MONDO:0015047"	"amelogenesis imperfecta type 1"	"Orphanet:100031"	"Orphanet:100031"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3344"	"ENAM"	"Orphanet:100031"	"Hypoplastic amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11978766[PMID]_14684688[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15976"	"2021-09-14"
"GENCC_000110-HGNC_3349-Orphanet_774-HP_0000006-GENCC_100009"	"HGNC:3349"	"ENG"	"MONDO:0019180"	"hereditary hemorrhagic telangiectasia"	"Orphanet:774"	"Orphanet:774"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3349"	"ENG"	"Orphanet:774"	"Hereditary hemorrhagic telangiectasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301525[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15977"	"2021-09-14"
"GENCC_000110-HGNC_3354-Orphanet_99849-HP_0000007-GENCC_100009"	"HGNC:3354"	"ENO3"	"MONDO:0013046"	"glycogen storage disease due to muscle beta-enolase deficiency"	"Orphanet:99849"	"Orphanet:99849"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3354"	"ENO3"	"Orphanet:99849"	"Glycogen storage disease due to muscle beta-enolase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11506403[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15980"	"2021-09-14"
"GENCC_000110-HGNC_3356-Orphanet_758-HP_0000007-GENCC_100009"	"HGNC:3356"	"ENPP1"	"MONDO:0009925"	"autosomal recessive inherited pseudoxanthoma elasticum"	"Orphanet:758"	"Orphanet:758"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3356"	"ENPP1"	"Orphanet:758"	"Pseudoxanthoma elasticum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25615550[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15981"	"2021-09-14"
"GENCC_000110-HGNC_3356-Orphanet_51608-HP_0000006-GENCC_100009"	"HGNC:3356"	"ENPP1"	"MONDO:0018870"	"arterial calcification of infancy"	"Orphanet:51608"	"Orphanet:51608"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3356"	"ENPP1"	"Orphanet:51608"	"Generalized arterial calcification of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25392903[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15981"	"2021-09-14"
"GENCC_000110-HGNC_3356-Orphanet_289176-HP_0000007-GENCC_100009"	"HGNC:3356"	"ENPP1"	"MONDO:0017324"	"autosomal recessive hypophosphatemic rickets"	"Orphanet:289176"	"Orphanet:289176"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3356"	"ENPP1"	"Orphanet:289176"	"Autosomal recessive hypophosphatemic rickets"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15981"	"2021-09-14"
"GENCC_000110-HGNC_3356-Orphanet_324561-HP_0000006-GENCC_100009"	"HGNC:3356"	"ENPP1"	"MONDO:0014227"	"hypopigmentation-punctate palmoplantar keratoderma syndrome"	"Orphanet:324561"	"Orphanet:324561"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3356"	"ENPP1"	"Orphanet:324561"	"Hypopigmentation-punctate palmoplantar keratoderma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24075184[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15981"	"2021-09-14"
"GENCC_000110-HGNC_3377-Orphanet_288-HP_0000006-GENCC_100009"	"HGNC:3377"	"EPB41"	"MONDO:0017319"	"hereditary elliptocytosis"	"Orphanet:288"	"Orphanet:288"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3377"	"EPB41"	"Orphanet:288"	"Hereditary elliptocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15983"	"2021-09-14"
"GENCC_000110-HGNC_3401-Orphanet_238475-HP_0000007-GENCC_100009"	"HGNC:3401"	"EPHX1"	"MONDO:0011905"	"familial hypercholanemia"	"Orphanet:238475"	"Orphanet:238475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3401"	"EPHX1"	"Orphanet:238475"	"Familial hypercholanemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12878321[PMID]_25992604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15985"	"2021-09-14"
"GENCC_000110-HGNC_3413-Orphanet_501-HP_0000007-GENCC_100009"	"HGNC:3413"	"EPM2A"	"MONDO:0009697"	"Lafora disease"	"Orphanet:501"	"Orphanet:501"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3413"	"EPM2A"	"Orphanet:501"	"Lafora disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301563[PMID]_22047982[PMID]_22669944[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15986"	"2021-09-14"
"GENCC_000110-HGNC_3416-Orphanet_90042-HP_0000006-GENCC_100009"	"HGNC:3416"	"EPOR"	"MONDO:0007572"	"primary familial polycythemia due to EPO receptor mutation"	"Orphanet:90042"	"Orphanet:90042"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3416"	"EPOR"	"Orphanet:90042"	"Primary familial polycythemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9359528[PMID]_9192789[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15987"	"2021-09-14"
"GENCC_000110-HGNC_3434-Orphanet_1466-HP_0000007-GENCC_100009"	"HGNC:3434"	"ERCC2"	"MONDO:0008926"	"COFS syndrome"	"Orphanet:1466"	"Orphanet:1466"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3434"	"ERCC2"	"Orphanet:1466"	"COFS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11443545[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15989"	"2021-09-14"
"GENCC_000110-HGNC_3434-Orphanet_910-HP_0000007-GENCC_100009"	"HGNC:3434"	"ERCC2"	"MONDO:0019600"	"xeroderma pigmentosum"	"Orphanet:910"	"Orphanet:910"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3434"	"ERCC2"	"Orphanet:910"	"Xeroderma pigmentosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15989"	"2021-09-14"
"GENCC_000110-HGNC_3434-Orphanet_33364-HP_0000007-GENCC_100009"	"HGNC:3434"	"ERCC2"	"MONDO:0018053"	"trichothiodystrophy"	"Orphanet:33364"	"Orphanet:33364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3434"	"ERCC2"	"Orphanet:33364"	"Trichothiodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12393803[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15989"	"2021-09-14"
"GENCC_000110-HGNC_3434-Orphanet_220295-HP_0000007-GENCC_100009"	"HGNC:3434"	"ERCC2"	"MONDO:0016354"	"xeroderma pigmentosum-Cockayne syndrome complex"	"Orphanet:220295"	"Orphanet:220295"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3434"	"ERCC2"	"Orphanet:220295"	"Xeroderma pigmentosum-Cockayne syndrome complex"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15989"	"2021-09-14"
"GENCC_000110-HGNC_3436-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:3436"	"ERCC4"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3436"	"ERCC4"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23623386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15990"	"2021-09-14"
"GENCC_000110-HGNC_3436-Orphanet_910-HP_0000007-GENCC_100009"	"HGNC:3436"	"ERCC4"	"MONDO:0019600"	"xeroderma pigmentosum"	"Orphanet:910"	"Orphanet:910"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3436"	"ERCC4"	"Orphanet:910"	"Xeroderma pigmentosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15990"	"2021-09-14"
"GENCC_000110-HGNC_3436-Orphanet_220295-HP_0000007-GENCC_100009"	"HGNC:3436"	"ERCC4"	"MONDO:0016354"	"xeroderma pigmentosum-Cockayne syndrome complex"	"Orphanet:220295"	"Orphanet:220295"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3436"	"ERCC4"	"Orphanet:220295"	"Xeroderma pigmentosum-Cockayne syndrome complex"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15990"	"2021-09-14"
"GENCC_000110-HGNC_3438-Orphanet_1466-HP_0000007-GENCC_100009"	"HGNC:3438"	"ERCC6"	"MONDO:0008926"	"COFS syndrome"	"Orphanet:1466"	"Orphanet:1466"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3438"	"ERCC6"	"Orphanet:1466"	"COFS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15991"	"2021-09-14"
"GENCC_000110-HGNC_3438-Orphanet_90322-HP_0000007-GENCC_100009"	"HGNC:3438"	"ERCC6"	"MONDO:0019570"	"Cockayne syndrome type 2"	"Orphanet:90322"	"Orphanet:90322"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3438"	"ERCC6"	"Orphanet:90322"	"Cockayne syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15991"	"2021-09-14"
"GENCC_000110-HGNC_3438-Orphanet_178338-HP_0000007-GENCC_100009"	"HGNC:3438"	"ERCC6"	"MONDO:0015797"	"UV-sensitive syndrome"	"Orphanet:178338"	"Orphanet:178338"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3438"	"ERCC6"	"Orphanet:178338"	"UV-sensitive syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15486090[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15991"	"2021-09-14"
"GENCC_000110-HGNC_3439-Orphanet_90322-HP_0000007-GENCC_100009"	"HGNC:3439"	"ERCC8"	"MONDO:0019570"	"Cockayne syndrome type 2"	"Orphanet:90322"	"Orphanet:90322"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3439"	"ERCC8"	"Orphanet:90322"	"Cockayne syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15992"	"2021-09-14"
"GENCC_000110-HGNC_3439-Orphanet_178338-HP_0000007-GENCC_100009"	"HGNC:3439"	"ERCC8"	"MONDO:0015797"	"UV-sensitive syndrome"	"Orphanet:178338"	"Orphanet:178338"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3439"	"ERCC8"	"Orphanet:178338"	"UV-sensitive syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19329487[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15992"	"2021-09-14"
"GENCC_000110-HGNC_27230-Orphanet_3103-HP_0000007-GENCC_100009"	"HGNC:27230"	"ESCO2"	"MONDO:0009997"	"Roberts syndrome"	"Orphanet:3103"	"Orphanet:3103"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27230"	"ESCO2"	"Orphanet:3103"	"Roberts syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301332[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15994"	"2021-09-14"
"GENCC_000110-HGNC_3467-Orphanet_785-HP_0000007-GENCC_100009"	"HGNC:3467"	"ESR1"	"MONDO:0014148"	"estrogen resistance syndrome"	"Orphanet:785"	"Orphanet:785"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3467"	"ESR1"	"Orphanet:785"	"Estrogen resistance syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8090165[PMID]_23841731[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15995"	"2021-09-14"
"GENCC_000110-HGNC_23287-Orphanet_51188-HP_0000007-GENCC_100009"	"HGNC:23287"	"ETHE1"	"MONDO:0011229"	"ethylmalonic encephalopathy"	"Orphanet:51188"	"Orphanet:51188"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23287"	"ETHE1"	"Orphanet:51188"	"Ethylmalonic encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18593870[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"15999"	"2021-09-14"
"GENCC_000110-HGNC_3497-Orphanet_289-HP_0000007-GENCC_100009"	"HGNC:3497"	"EVC"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"Orphanet:289"	"Orphanet:289"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3497"	"EVC"	"Orphanet:289"	"Ellis Van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23220543[PMID]_22791528[PMID]_19744229[PMID]_18947413[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16001"	"2021-09-14"
"GENCC_000110-HGNC_3497-Orphanet_952-HP_0000006-GENCC_100009"	"HGNC:3497"	"EVC"	"MONDO:0008673"	"acrofacial dysostosis, Weyers type"	"Orphanet:952"	"Orphanet:952"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3497"	"EVC"	"Orphanet:952"	"Acrofacial dysostosis, Weyers type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10700184[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16001"	"2021-09-14"
"GENCC_000110-HGNC_19747-Orphanet_289-HP_0000007-GENCC_100009"	"HGNC:19747"	"EVC2"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"Orphanet:289"	"Orphanet:289"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19747"	"EVC2"	"Orphanet:289"	"Ellis Van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23220543[PMID]_22791528[PMID]_12571802[PMID]_12468274[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16002"	"2021-09-14"
"GENCC_000110-HGNC_19747-Orphanet_952-HP_0000006-GENCC_100009"	"HGNC:19747"	"EVC2"	"MONDO:0008673"	"acrofacial dysostosis, Weyers type"	"Orphanet:952"	"Orphanet:952"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19747"	"EVC2"	"Orphanet:952"	"Acrofacial dysostosis, Weyers type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23220543[PMID]_22791528[PMID]_16404586[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16002"	"2021-09-14"
"GENCC_000110-HGNC_3512-Orphanet_321-HP_0000006-GENCC_100009"	"HGNC:3512"	"EXT1"	"MONDO:0005508"	"hereditary multiple osteochondromas"	"Orphanet:321"	"Orphanet:321"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3512"	"EXT1"	"Orphanet:321"	"Multiple osteochondromas"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301413[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16004"	"2021-09-14"
"GENCC_000110-HGNC_3513-Orphanet_321-HP_0000006-GENCC_100009"	"HGNC:3513"	"EXT2"	"MONDO:0005508"	"hereditary multiple osteochondromas"	"Orphanet:321"	"Orphanet:321"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3513"	"EXT2"	"Orphanet:321"	"Multiple osteochondromas"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301413[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16005"	"2021-09-14"
"GENCC_000110-HGNC_3513-Orphanet_466926-HP_0000007-GENCC_100009"	"HGNC:3513"	"EXT2"	"MONDO:0014731"	"seizures-scoliosis-macrocephaly syndrome"	"Orphanet:466926"	"Orphanet:466926"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3513"	"EXT2"	"Orphanet:466926"	"Seizures-scoliosis-macrocephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26246518[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16005"	"2021-09-14"
"GENCC_000110-HGNC_3519-Orphanet_107-HP_0000006-GENCC_100009"	"HGNC:3519"	"EYA1"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"Orphanet:107"	"Orphanet:107"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3519"	"EYA1"	"Orphanet:107"	"BOR syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16006"	"2021-09-14"
"GENCC_000110-HGNC_3519-Orphanet_52429-HP_0000006-GENCC_100009"	"HGNC:3519"	"EYA1"	"MONDO:0018878"	"branchiootic syndrome"	"Orphanet:52429"	"Orphanet:52429"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3519"	"EYA1"	"Orphanet:52429"	"Branchiootic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9359046[PMID]_23840632[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16006"	"2021-09-14"
"GENCC_000110-HGNC_3522-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:3522"	"EYA4"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3522"	"EYA4"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16007"	"2021-09-14"
"GENCC_000110-HGNC_3522-Orphanet_217622-HP_0000006-GENCC_100009"	"HGNC:3522"	"EYA4"	"MONDO:0011541"	"dilated cardiomyopathy 1J"	"Orphanet:217622"	"Orphanet:217622"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3522"	"EYA4"	"Orphanet:217622"	"Sensorineural deafness with dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15735644[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16007"	"2021-09-14"
"GENCC_000110-HGNC_3528-Orphanet_328-HP_0000007-GENCC_100009"	"HGNC:3528"	"F10"	"MONDO:0009212"	"congenital factor X deficiency"	"Orphanet:328"	"Orphanet:328"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3528"	"F10"	"Orphanet:328"	"Congenital factor X deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15892863[PMID]_26222694[PMID]_26309706[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16008"	"2021-09-14"
"GENCC_000110-HGNC_3529-Orphanet_329-HP_0000006-GENCC_100009"	"HGNC:3529"	"F11"	"MONDO:0012897"	"congenital factor XI deficiency"	"Orphanet:329"	"Orphanet:329"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3529"	"F11"	"Orphanet:329"	"Congenital factor XI deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18312365[PMID]_22159456[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16009"	"2021-09-14"
"GENCC_000110-HGNC_3530-Orphanet_330-HP_0000007-GENCC_100009"	"HGNC:3530"	"F12"	"MONDO:0009315"	"congenital factor XII deficiency"	"Orphanet:330"	"Orphanet:330"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3530"	"F12"	"Orphanet:330"	"Congenital factor XII deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20386432[PMID]_22043782[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16010"	"2021-09-14"
"GENCC_000110-HGNC_3530-Orphanet_100054-HP_0000006-GENCC_100009"	"HGNC:3530"	"F12"	"MONDO:0012526"	"hereditary angioedema type 3"	"Orphanet:100054"	"Orphanet:100054"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3530"	"F12"	"Orphanet:100054"	"F12-related hereditary angioedema with normal C1Inh"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20384613[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16010"	"2021-09-14"
"GENCC_000110-HGNC_3531-Orphanet_331-HP_0000007-GENCC_100009"	"HGNC:3531"	"F13A1"	"MONDO:0018029"	"congenital factor XIII deficiency"	"Orphanet:331"	"Orphanet:331"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3531"	"F13A1"	"Orphanet:331"	"Congenital factor XIII deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21738029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16011"	"2021-09-14"
"GENCC_000110-HGNC_3534-Orphanet_331-HP_0000007-GENCC_100009"	"HGNC:3534"	"F13B"	"MONDO:0018029"	"congenital factor XIII deficiency"	"Orphanet:331"	"Orphanet:331"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3534"	"F13B"	"Orphanet:331"	"Congenital factor XIII deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21738029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16012"	"2021-09-14"
"GENCC_000110-HGNC_3535-Orphanet_325-HP_0000007-GENCC_100009"	"HGNC:3535"	"F2"	"MONDO:0013361"	"congenital prothrombin deficiency"	"Orphanet:325"	"Orphanet:325"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3535"	"F2"	"Orphanet:325"	"Congenital factor II deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25242243[PMID]_23852823[PMID]_20301327[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16013"	"2021-09-14"
"GENCC_000110-HGNC_3542-Orphanet_326-HP_0000007-GENCC_100009"	"HGNC:3542"	"F5"	"MONDO:0009210"	"congenital factor V deficiency"	"Orphanet:326"	"Orphanet:326"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3542"	"F5"	"Orphanet:326"	"Congenital factor V deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16014"	"2021-09-14"
"GENCC_000110-HGNC_3542-Orphanet_391320-HP_0000006-GENCC_100009"	"HGNC:3542"	"F5"	"MONDO:0011615"	"East Texas bleeding disorder"	"Orphanet:391320"	"Orphanet:391320"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3542"	"F5"	"Orphanet:391320"	"East Texas bleeding disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23979162[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16014"	"2021-09-14"
"GENCC_000110-HGNC_3544-Orphanet_327-HP_0000007-GENCC_100009"	"HGNC:3544"	"F7"	"MONDO:0009211"	"congenital factor VII deficiency"	"Orphanet:327"	"Orphanet:327"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3544"	"F7"	"Orphanet:327"	"Congenital factor VII deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16015"	"2021-09-14"
"GENCC_000110-HGNC_3546-Orphanet_169802-HP_0001417-GENCC_100009"	"HGNC:3546"	"F8"	"MONDO:0015719"	"severe hemophilia A"	"Orphanet:169802"	"Orphanet:169802"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3546"	"F8"	"Orphanet:169802"	"Severe hemophilia A"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301578[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16016"	"2021-09-14"
"GENCC_000110-HGNC_3546-Orphanet_169805-HP_0001417-GENCC_100009"	"HGNC:3546"	"F8"	"MONDO:0015720"	"moderately severe hemophilia A"	"Orphanet:169805"	"Orphanet:169805"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3546"	"F8"	"Orphanet:169805"	"Moderate hemophilia A"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301578[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16016"	"2021-09-14"
"GENCC_000110-HGNC_3546-Orphanet_169808-HP_0001417-GENCC_100009"	"HGNC:3546"	"F8"	"MONDO:0015721"	"mild hemophilia A"	"Orphanet:169808"	"Orphanet:169808"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3546"	"F8"	"Orphanet:169808"	"Mild hemophilia A"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301578[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16016"	"2021-09-14"
"GENCC_000110-HGNC_3546-Orphanet_177926-HP_0001417-GENCC_100009"	"HGNC:3546"	"F8"	"MONDO:0015787"	"symptomatic form of hemophilia A in female carriers"	"Orphanet:177926"	"Orphanet:177926"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3546"	"F8"	"Orphanet:177926"	"Bleeding disorder in hemophilia A carriers without FVIII deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301578[PMID]_25611311[PMID]_19302446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16016"	"2021-09-14"
"GENCC_000110-HGNC_3551-Orphanet_169793-HP_0001417-GENCC_100009"	"HGNC:3551"	"F9"	"MONDO:0015715"	"severe hemophilia B"	"Orphanet:169793"	"Orphanet:169793"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3551"	"F9"	"Orphanet:169793"	"Severe hemophilia B"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16017"	"2021-09-14"
"GENCC_000110-HGNC_3551-Orphanet_169796-HP_0001417-GENCC_100009"	"HGNC:3551"	"F9"	"MONDO:0015716"	"moderately severe hemophilia B"	"Orphanet:169796"	"Orphanet:169796"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3551"	"F9"	"Orphanet:169796"	"Moderate hemophilia B"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16017"	"2021-09-14"
"GENCC_000110-HGNC_3551-Orphanet_169799-HP_0001417-GENCC_100009"	"HGNC:3551"	"F9"	"MONDO:0015717"	"mild hemophilia B"	"Orphanet:169799"	"Orphanet:169799"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3551"	"F9"	"Orphanet:169799"	"Mild hemophilia B"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16017"	"2021-09-14"
"GENCC_000110-HGNC_3551-Orphanet_177929-HP_0001417-GENCC_100009"	"HGNC:3551"	"F9"	"MONDO:0015788"	"symptomatic form of hemophilia B in female carriers"	"Orphanet:177929"	"Orphanet:177929"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3551"	"F9"	"Orphanet:177929"	"Bleeding disorder in hemophilia B carriers without FIX deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16017"	"2021-09-14"
"GENCC_000110-HGNC_3579-Orphanet_882-HP_0000007-GENCC_100009"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"tyrosinemia type I"	"Orphanet:882"	"Orphanet:882"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3579"	"FAH"	"Orphanet:882"	"Tyrosinemia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301688[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16018"	"2021-09-14"
"GENCC_000110-HGNC_24587-Orphanet_85163-HP_0000007-GENCC_100009"	"HGNC:24587"	"HYCC1"	"MONDO:0012514"	"hypomyelinating leukodystrophy 5"	"Orphanet:85163"	"Orphanet:85163"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24587"	"FAM126A"	"Orphanet:85163"	"Hypomyelination-congenital cataract syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301737[PMID]_16951682[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16019"	"2021-09-14"
"GENCC_000110-HGNC_3582-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:3582"	"FANCA"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3582"	"FANCA"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16020"	"2021-09-14"
"GENCC_000110-HGNC_3583-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:3583"	"FANCB"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3583"	"FANCB"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16021"	"2021-09-14"
"GENCC_000110-HGNC_3583-Orphanet_3412-HP_0000007-GENCC_100009"	"HGNC:3583"	"FANCB"	"MONDO:0010172"	"VACTERL with hydrocephalus"	"Orphanet:3412"	"Orphanet:3412"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3583"	"FANCB"	"Orphanet:3412"	"VACTERL with hydrocephalus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21910217[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16021"	"2021-09-14"
"GENCC_000110-HGNC_3584-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:3584"	"FANCC"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3584"	"FANCC"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16022"	"2021-09-14"
"GENCC_000110-HGNC_3585-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:3585"	"FANCD2"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3585"	"FANCD2"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16023"	"2021-09-14"
"GENCC_000110-HGNC_3586-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:3586"	"FANCE"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3586"	"FANCE"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16024"	"2021-09-14"
"GENCC_000110-HGNC_3587-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:3587"	"FANCF"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3587"	"FANCF"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16025"	"2021-09-14"
"GENCC_000110-HGNC_3588-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:3588"	"FANCG"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3588"	"FANCG"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16026"	"2021-09-14"
"GENCC_000110-HGNC_20748-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:20748"	"FANCL"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20748"	"FANCL"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16027"	"2021-09-14"
"GENCC_000110-HGNC_23168-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:23168"	"FANCM"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23168"	"FANCM"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16028"	"2021-09-14"
"GENCC_000110-HGNC_23168-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:23168"	"FANCM"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23168"	"FANCM"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30075111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16028"	"2021-09-14"
"GENCC_000110-HGNC_11920-Orphanet_3261-HP_0000006-GENCC_100009"	"HGNC:11920"	"FAS"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"Orphanet:3261"	"Orphanet:3261"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11920"	"FAS"	"Orphanet:3261"	"Autoimmune lymphoproliferative syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22983577[PMID]_21885602[PMID]_20301287[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16029"	"2021-09-14"
"GENCC_000110-HGNC_11936-Orphanet_3261-HP_0000006-GENCC_100009"	"HGNC:11936"	"FASLG"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"Orphanet:3261"	"Orphanet:3261"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11936"	"FASLG"	"Orphanet:3261"	"Autoimmune lymphoproliferative syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301287[PMID]_16627752[PMID]_17605793[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16030"	"2021-09-14"
"GENCC_000110-HGNC_3602-Orphanet_90348-HP_0000006-GENCC_100009"	"HGNC:3602"	"FBLN5"	"MONDO:0019571"	"autosomal dominant cutis laxa"	"Orphanet:90348"	"Orphanet:90348"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3602"	"FBLN5"	"Orphanet:90348"	"Autosomal dominant cutis laxa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12618961[PMID]_20301756[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16031"	"2021-09-14"
"GENCC_000110-HGNC_3602-Orphanet_90349-HP_0000007-GENCC_100009"	"HGNC:3602"	"FBLN5"	"MONDO:0019572"	"autosomal recessive cutis laxa type 1"	"Orphanet:90349"	"Orphanet:90349"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3602"	"FBLN5"	"Orphanet:90349"	"Autosomal recessive cutis laxa type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22829427[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16031"	"2021-09-14"
"GENCC_000110-HGNC_3602-Orphanet_280598-HP_0000006-GENCC_100009"	"HGNC:3602"	"FBLN5"	"MONDO:0017237"	"hereditary sensorimotor neuropathy with hyperelastic skin"	"Orphanet:280598"	"Orphanet:280598"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3602"	"FBLN5"	"Orphanet:280598"	"Hereditary sensorimotor neuropathy with hyperelastic skin"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21576112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16031"	"2021-09-14"
"GENCC_000110-HGNC_3603-Orphanet_1885-HP_0000006-GENCC_100009"	"HGNC:3603"	"FBN1"	"MONDO:0015998"	"isolated ectopia lentis"	"Orphanet:1885"	"Orphanet:1885"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3603"	"FBN1"	"Orphanet:1885"	"Isolated ectopia lentis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16032"	"2021-09-14"
"GENCC_000110-HGNC_3603-Orphanet_969-HP_0000006-GENCC_100009"	"HGNC:3603"	"FBN1"	"MONDO:0007055"	"Acromicric dysplasia"	"Orphanet:969"	"Orphanet:969"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3603"	"FBN1"	"Orphanet:969"	"Acromicric dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21683322[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16032"	"2021-09-14"
"GENCC_000110-HGNC_3603-Orphanet_2623-HP_0000006-GENCC_100009"	"HGNC:3603"	"FBN1"	"MONDO:0000127"	"geleophysic dysplasia"	"Orphanet:2623"	"Orphanet:2623"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3603"	"FBN1"	"Orphanet:2623"	"Geleophysic dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301776[PMID]_21683322[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16032"	"2021-09-14"
"GENCC_000110-HGNC_3603-Orphanet_3449-HP_0000006-GENCC_100009"	"HGNC:3603"	"FBN1"	"MONDO:0018096"	"Weill-Marchesani syndrome"	"Orphanet:3449"	"Orphanet:3449"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3603"	"FBN1"	"Orphanet:3449"	"Weill-Marchesani syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301293[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16032"	"2021-09-14"
"GENCC_000110-HGNC_3603-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:3603"	"FBN1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3603"	"FBN1"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16032"	"2021-09-14"
"GENCC_000110-HGNC_3603-Orphanet_284963-HP_0000006-GENCC_100009"	"HGNC:3603"	"FBN1"	"MONDO:0007947"	"Marfan syndrome"	"Orphanet:284963"	"Orphanet:284963"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3603"	"FBN1"	"Orphanet:284963"	"Marfan syndrome type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16032"	"2021-09-14"
"GENCC_000110-HGNC_3603-Orphanet_284979-HP_0000006-GENCC_100009"	"HGNC:3603"	"FBN1"	"MONDO:0017309"	"neonatal Marfan syndrome"	"Orphanet:284979"	"Orphanet:284979"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3603"	"FBN1"	"Orphanet:284979"	"Neonatal Marfan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20132243[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16032"	"2021-09-14"
"GENCC_000110-HGNC_3603-Orphanet_300382-HP_0000006-GENCC_100009"	"HGNC:3603"	"FBN1"	"MONDO:0014831"	"progeroid and marfanoid aspect-lipodystrophy syndrome"	"Orphanet:300382"	"Orphanet:300382"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3603"	"FBN1"	"Orphanet:300382"	"Progeroid and marfanoid aspect-lipodystrophy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21594992[PMID]_21594993[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16032"	"2021-09-14"
"GENCC_000110-HGNC_3604-Orphanet_115-HP_0000006-GENCC_100009"	"HGNC:3604"	"FBN2"	"MONDO:0007363"	"congenital contractural arachnodactyly"	"Orphanet:115"	"Orphanet:115"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3604"	"FBN2"	"Orphanet:115"	"Congenital contractural arachnodactyly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301560[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16033"	"2021-09-14"
"GENCC_000110-HGNC_3606-Orphanet_348-HP_0000007-GENCC_100009"	"HGNC:3606"	"FBP1"	"MONDO:0009251"	"fructose-1,6-bisphosphatase deficiency"	"Orphanet:348"	"Orphanet:348"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3606"	"FBP1"	"Orphanet:348"	"Fructose-1,6-bisphosphatase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9382095[PMID]_12126934[PMID]_24007283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16034"	"2021-09-14"
"GENCC_000110-HGNC_3622-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:3622"	"FKTN"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3622"	"FKTN"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17036286[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16037"	"2021-09-14"
"GENCC_000110-HGNC_3622-Orphanet_272-HP_0000007-GENCC_100009"	"HGNC:3622"	"FKTN"	"MONDO:0009678"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"	"Orphanet:272"	"Orphanet:272"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3622"	"FKTN"	"Orphanet:272"	"Congenital muscular dystrophy, Fukuyama type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301385[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16037"	"2021-09-14"
"GENCC_000110-HGNC_3622-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:3622"	"FKTN"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3622"	"FKTN"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18177472[PMID]_17878207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16037"	"2021-09-14"
"GENCC_000110-HGNC_3622-Orphanet_588-HP_0000007-GENCC_100009"	"HGNC:3622"	"FKTN"	"MONDO:0018939"	"muscle-eye-brain disease"	"Orphanet:588"	"Orphanet:588"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3622"	"FKTN"	"Orphanet:588"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17878207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16037"	"2021-09-14"
"GENCC_000110-HGNC_3622-Orphanet_206554-HP_0000007-GENCC_100009"	"HGNC:3622"	"FKTN"	"MONDO:0012699"	"autosomal recessive limb-girdle muscular dystrophy type 2M"	"Orphanet:206554"	"Orphanet:206554"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3622"	"FKTN"	"Orphanet:206554"	"Fukutin-related limb-girdle muscular dystrophy R13"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16037"	"2021-09-14"
"GENCC_000110-HGNC_3622-Orphanet_370980-HP_0000007-GENCC_100009"	"HGNC:3622"	"FKTN"	"MONDO:0018279"	"congenital muscular dystrophy without intellectual disability"	"Orphanet:370980"	"Orphanet:370980"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3622"	"FKTN"	"Orphanet:370980"	"Congenital muscular dystrophy without intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16037"	"2021-09-14"
"GENCC_000110-HGNC_3647-Orphanet_79278-HP_0000006-GENCC_100009"	"HGNC:3647"	"FECH"	"MONDO:0019263"	"autosomal erythropoietic protoporphyria"	"Orphanet:79278"	"Orphanet:79278"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3647"	"FECH"	"Orphanet:79278"	"Autosomal erythropoietic protoporphyria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23016163[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16039"	"2021-09-14"
"GENCC_000110-HGNC_3661-Orphanet_93562-HP_0000006-GENCC_100009"	"HGNC:3661"	"FGA"	"MONDO:0019733"	"AFib amyloidosis"	"Orphanet:93562"	"Orphanet:93562"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3661"	"FGA"	"Orphanet:93562"	"AFib amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9389696[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16040"	"2021-09-14"
"GENCC_000110-HGNC_3661-Orphanet_98880-HP_0000007-GENCC_100009"	"HGNC:3661"	"FGA"	"MONDO:0008737"	"congenital afibrinogenemia"	"Orphanet:98880"	"Orphanet:98880"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3661"	"FGA"	"Orphanet:98880"	"Familial afibrinogenemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11460507[PMID]_17295221[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16040"	"2021-09-14"
"GENCC_000110-HGNC_3661-Orphanet_98881-HP_0000006-GENCC_100009"	"HGNC:3661"	"FGA"	"MONDO:0014452"	"familial dysfibrinogenemia"	"Orphanet:98881"	"Orphanet:98881"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3661"	"FGA"	"Orphanet:98881"	"Familial dysfibrinogenemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25320241[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16040"	"2021-09-14"
"GENCC_000110-HGNC_3661-Orphanet_101041-HP_0000006-GENCC_100009"	"HGNC:3661"	"FGA"	"MONDO:0015096"	"familial hypofibrinogenemia"	"Orphanet:101041"	"Orphanet:101041"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3661"	"FGA"	"Orphanet:101041"	"Familial hypofibrinogenemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18676163[PMID]_17295221[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16040"	"2021-09-14"
"GENCC_000110-HGNC_3662-Orphanet_98880-HP_0000007-GENCC_100009"	"HGNC:3662"	"FGB"	"MONDO:0008737"	"congenital afibrinogenemia"	"Orphanet:98880"	"Orphanet:98880"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3662"	"FGB"	"Orphanet:98880"	"Familial afibrinogenemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11460507[PMID]_17295221[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16041"	"2021-09-14"
"GENCC_000110-HGNC_3662-Orphanet_98881-HP_0000006-GENCC_100009"	"HGNC:3662"	"FGB"	"MONDO:0014452"	"familial dysfibrinogenemia"	"Orphanet:98881"	"Orphanet:98881"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3662"	"FGB"	"Orphanet:98881"	"Familial dysfibrinogenemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25320241[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16041"	"2021-09-14"
"GENCC_000110-HGNC_3662-Orphanet_101041-HP_0000006-GENCC_100009"	"HGNC:3662"	"FGB"	"MONDO:0015096"	"familial hypofibrinogenemia"	"Orphanet:101041"	"Orphanet:101041"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3662"	"FGB"	"Orphanet:101041"	"Familial hypofibrinogenemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17295221[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16041"	"2021-09-14"
"GENCC_000110-HGNC_3663-Orphanet_915-HP_0000006-GENCC_100009"	"HGNC:3663"	"FGD1"	"MONDO:0010589"	"Aarskog-Scott syndrome, X-linked"	"Orphanet:915"	"Orphanet:915"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3663"	"FGD1"	"Orphanet:915"	"Aarskog-Scott syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16042"	"2021-09-14"
"GENCC_000110-HGNC_3666-Orphanet_2363-HP_0000006-GENCC_100009"	"HGNC:3666"	"FGF10"	"MONDO:0007872"	"LADD syndrome"	"Orphanet:2363"	"Orphanet:2363"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3666"	"FGF10"	"Orphanet:2363"	"Lacrimoauriculodentodigital syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16630169[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16043"	"2021-09-14"
"GENCC_000110-HGNC_3666-Orphanet_86815-HP_0000006-GENCC_100009"	"HGNC:3666"	"FGF10"	"MONDO:0008397"	"aplasia of lacrimal and salivary glands"	"Orphanet:86815"	"Orphanet:86815"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3666"	"FGF10"	"Orphanet:86815"	"Aplasia of lacrimal and salivary glands"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17213838[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16043"	"2021-09-14"
"GENCC_000110-HGNC_3671-Orphanet_98764-HP_0000006-GENCC_100009"	"HGNC:3671"	"FGF14"	"MONDO:0012247"	"spinocerebellar ataxia type 27"	"Orphanet:98764"	"Orphanet:98764"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3671"	"FGF14"	"Orphanet:98764"	"Spinocerebellar ataxia type 27"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16044"	"2021-09-14"
"GENCC_000110-HGNC_3680-Orphanet_89937-HP_0000006-GENCC_100009"	"HGNC:3680"	"FGF23"	"MONDO:0008660"	"autosomal dominant hypophosphatemic rickets"	"Orphanet:89937"	"Orphanet:89937"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3680"	"FGF23"	"Orphanet:89937"	"Autosomal dominant hypophosphatemic rickets"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11062477[PMID]_19655082[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16045"	"2021-09-14"
"GENCC_000110-HGNC_3680-Orphanet_306661-HP_0000007-GENCC_100009"	"HGNC:3680"	"FGF23"	"MONDO:0008897"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"Orphanet:306661"	"Orphanet:306661"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3680"	"FGF23"	"Orphanet:306661"	"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15590700[PMID]_22142751[PMID]_19188744[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16045"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_2162-HP_0000007-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0016296"	"holoprosencephaly"	"Orphanet:2162"	"Orphanet:2162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:2162"	"Holoprosencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29785796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_2117-HP_0000006-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0014196"	"Hartsfield-Bixler-Demyer syndrome"	"Orphanet:2117"	"Orphanet:2117"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:2117"	"Hartsfield syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23812909[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_2645-HP_0000006-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0008150"	"osteoglophonic dwarfism"	"Orphanet:2645"	"Orphanet:2645"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:2645"	"Osteoglosphonic dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15625620[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_3157-HP_0000006-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0008428"	"septooptic dysplasia"	"Orphanet:3157"	"Orphanet:3157"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:3157"	"Septo-optic dysplasia spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22319038[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_3366-HP_0000006-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0018065"	"isolated trigonocephaly"	"Orphanet:3366"	"Orphanet:3366"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:3366"	"Isolated trigonocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11173846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17235395[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17235395[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_93258-HP_0000006-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0019659"	"Pfeiffer syndrome type 1"	"Orphanet:93258"	"Orphanet:93258"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:93258"	"Pfeiffer syndrome type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3688-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:3688"	"FGFR1"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3688"	"FGFR1"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16046"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_15-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0007037"	"achondroplasia"	"Orphanet:15"	"Orphanet:15"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:15"	"Achondroplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23149434[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_429-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0007793"	"hypochondroplasia"	"Orphanet:429"	"Orphanet:429"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:429"	"Hypochondroplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301650[PMID]_23149434[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_1860-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0008546"	"thanatophoric dysplasia type 1"	"Orphanet:1860"	"Orphanet:1860"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:1860"	"Thanatophoric dysplasia type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_2363-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0007872"	"LADD syndrome"	"Orphanet:2363"	"Orphanet:2363"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:2363"	"Lacrimoauriculodentodigital syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16501574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_35098-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0018113"	"isolated plagiocephaly"	"Orphanet:35098"	"Orphanet:35098"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:35098"	"Isolated plagiocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10914960[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_35099-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0018114"	"isolated brachycephaly"	"Orphanet:35099"	"Orphanet:35099"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:35099"	"Isolated brachycephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10914960[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_53271-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0011274"	"Muenke syndrome"	"Orphanet:53271"	"Orphanet:53271"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:53271"	"Muenke syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301588[PMID]_20301628[PMID]_21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_85164-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0012504"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"Orphanet:85164"	"Orphanet:85164"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:85164"	"Camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17033969[PMID]_24864036[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_85165-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0014658"	"severe achondroplasia-developmental delay-acanthosis nigricans syndrome"	"Orphanet:85165"	"Orphanet:85165"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:85165"	"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10053006[PMID]_18076102[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_93262-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0012833"	"Crouzon syndrome-acanthosis nigricans syndrome"	"Orphanet:93262"	"Orphanet:93262"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:93262"	"Crouzon syndrome-acanthosis nigricans syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3690-Orphanet_93274-HP_0000006-GENCC_100009"	"HGNC:3690"	"FGFR3"	"MONDO:0008547"	"thanatophoric dysplasia type 2"	"Orphanet:93274"	"Orphanet:93274"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3690"	"FGFR3"	"Orphanet:93274"	"Thanatophoric dysplasia type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16047"	"2021-09-14"
"GENCC_000110-HGNC_3694-Orphanet_98880-HP_0000007-GENCC_100009"	"HGNC:3694"	"FGG"	"MONDO:0008737"	"congenital afibrinogenemia"	"Orphanet:98880"	"Orphanet:98880"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3694"	"FGG"	"Orphanet:98880"	"Familial afibrinogenemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11460507[PMID]_17295221[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16048"	"2021-09-14"
"GENCC_000110-HGNC_3694-Orphanet_98881-HP_0000006-GENCC_100009"	"HGNC:3694"	"FGG"	"MONDO:0014452"	"familial dysfibrinogenemia"	"Orphanet:98881"	"Orphanet:98881"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3694"	"FGG"	"Orphanet:98881"	"Familial dysfibrinogenemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25320241[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16048"	"2021-09-14"
"GENCC_000110-HGNC_3694-Orphanet_101041-HP_0000006-GENCC_100009"	"HGNC:3694"	"FGG"	"MONDO:0015096"	"familial hypofibrinogenemia"	"Orphanet:101041"	"Orphanet:101041"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3694"	"FGG"	"Orphanet:101041"	"Familial hypofibrinogenemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18676163[PMID]_17295221[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16048"	"2021-09-14"
"GENCC_000110-HGNC_3700-Orphanet_24-HP_0000007-GENCC_100009"	"HGNC:3700"	"FH"	"MONDO:0011730"	"fumaric aciduria"	"Orphanet:24"	"Orphanet:24"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3700"	"FH"	"Orphanet:24"	"Fumaric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301679[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16049"	"2021-09-14"
"GENCC_000110-HGNC_3700-Orphanet_523-HP_0000006-GENCC_100009"	"HGNC:3700"	"FH"	"MONDO:0007888"	"hereditary leiomyomatosis and renal cell cancer"	"Orphanet:523"	"Orphanet:523"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3700"	"FH"	"Orphanet:523"	"Hereditary leiomyomatosis and renal cell cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15937070[PMID]_21398687[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16049"	"2021-09-14"
"GENCC_000110-HGNC_3700-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:3700"	"FH"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3700"	"FH"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24334767[PMID]_25004247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16049"	"2021-09-14"
"GENCC_000110-HGNC_17997-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:17997"	"FKRP"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17997"	"FKRP"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20236121[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16053"	"2021-09-14"
"GENCC_000110-HGNC_17997-Orphanet_588-HP_0000007-GENCC_100009"	"HGNC:17997"	"FKRP"	"MONDO:0018939"	"muscle-eye-brain disease"	"Orphanet:588"	"Orphanet:588"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17997"	"FKRP"	"Orphanet:588"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15121789[PMID]_19299310[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16053"	"2021-09-14"
"GENCC_000110-HGNC_17997-Orphanet_34515-HP_0000007-GENCC_100009"	"HGNC:17997"	"FKRP"	"MONDO:0011787"	"autosomal recessive limb-girdle muscular dystrophy type 2I"	"Orphanet:34515"	"Orphanet:34515"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17997"	"FKRP"	"Orphanet:34515"	"FKRP-related limb-girdle muscular dystrophy R9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301582[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16053"	"2021-09-14"
"GENCC_000110-HGNC_17997-Orphanet_370959-HP_0000007-GENCC_100009"	"HGNC:17997"	"FKRP"	"MONDO:0018277"	"congenital muscular dystrophy with cerebellar involvement"	"Orphanet:370959"	"Orphanet:370959"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17997"	"FKRP"	"Orphanet:370959"	"Congenital muscular dystrophy with cerebellar involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16053"	"2021-09-14"
"GENCC_000110-HGNC_17997-Orphanet_370968-HP_0000007-GENCC_100009"	"HGNC:17997"	"FKRP"	"MONDO:0018278"	"congenital muscular dystrophy with intellectual disability"	"Orphanet:370968"	"Orphanet:370968"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17997"	"FKRP"	"Orphanet:370968"	"Congenital muscular dystrophy with intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16053"	"2021-09-14"
"GENCC_000110-HGNC_17997-Orphanet_370980-HP_0000007-GENCC_100009"	"HGNC:17997"	"FKRP"	"MONDO:0018279"	"congenital muscular dystrophy without intellectual disability"	"Orphanet:370980"	"Orphanet:370980"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17997"	"FKRP"	"Orphanet:370980"	"Congenital muscular dystrophy without intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16053"	"2021-09-14"
"GENCC_000110-HGNC_27310-Orphanet_2903-HP_0000006-GENCC_100009"	"HGNC:27310"	"FLCN"	"MONDO:0008259"	"familial spontaneous pneumothorax"	"Orphanet:2903"	"Orphanet:2903"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:27310"	"FLCN"	"Orphanet:2903"	"Familial spontaneous pneumothorax"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15657874[PMID]_18505456[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16054"	"2021-09-14"
"GENCC_000110-HGNC_27310-Orphanet_122-HP_0000006-GENCC_100009"	"HGNC:27310"	"FLCN"	"MONDO:0007607"	"Birt-Hogg-Dube syndrome"	"Orphanet:122"	"Orphanet:122"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:27310"	"FLCN"	"Orphanet:122"	"Birt-Hogg-DubÚ syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301695[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16054"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_2301-HP_0000007-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0014097"	"congenital short bowel syndrome"	"Orphanet:2301"	"Orphanet:2301"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:2301"	"Congenital short bowel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23037936[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_1826-HP_0000006-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0015942"	"frontometaphyseal dysplasia"	"Orphanet:1826"	"Orphanet:1826"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:1826"	"Frontometaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16596676[PMID]_16835913[PMID]_20301567[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_2484-HP_0001417-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0010650"	"Melnick-Needles syndrome"	"Orphanet:2484"	"Orphanet:2484"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:2484"	"Melnick-Needles syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20186808[PMID]_21031081[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_75497-HP_0001417-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0010586"	"X-linked Ehlers-Danlos syndrome"	"Orphanet:75497"	"Orphanet:75497"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:75497"	"X-linked Ehlers-Danlos syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27739212[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_88630-HP_0001417-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0010279"	"terminal osseous dysplasia-pigmentary defects syndrome"	"Orphanet:88630"	"Orphanet:88630"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:88630"	"Terminal osseous dysplasia-pigmentary defects syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20598277[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_90650-HP_0001417-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0010704"	"otopalatodigital syndrome type 1"	"Orphanet:90650"	"Orphanet:90650"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:90650"	"Otopalatodigital syndrome type 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301567[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_90652-HP_0001417-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0010571"	"otopalatodigital syndrome type 2"	"Orphanet:90652"	"Orphanet:90652"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:90652"	"Otopalatodigital syndrome type 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301567[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_98892-HP_0000006-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0020341"	"periventricular nodular heterotopia"	"Orphanet:98892"	"Orphanet:98892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:98892"	"Periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301392[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3754-Orphanet_555877-HP_0001417-GENCC_100009"	"HGNC:3754"	"FLNA"	"MONDO:0010753"	"cardiac valvular dysplasia, X-linked"	"Orphanet:555877"	"Orphanet:555877"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3754"	"FLNA"	"Orphanet:555877"	"FLNA-related X-linked myxomatous valvular dysplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17190868[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16058"	"2021-09-14"
"GENCC_000110-HGNC_3755-Orphanet_1190-HP_0000006-GENCC_100009"	"HGNC:3755"	"FLNB"	"MONDO:0007167"	"atelosteogenesis type I"	"Orphanet:1190"	"Orphanet:1190"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3755"	"FLNB"	"Orphanet:1190"	"Atelosteogenesis type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301736[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16059"	"2021-09-14"
"GENCC_000110-HGNC_3755-Orphanet_3275-HP_0000007-GENCC_100009"	"HGNC:3755"	"FLNB"	"MONDO:0010094"	"spondylocarpotarsal synostosis syndrome"	"Orphanet:3275"	"Orphanet:3275"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3755"	"FLNB"	"Orphanet:3275"	"Spondylocarpotarsal synostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301736[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16059"	"2021-09-14"
"GENCC_000110-HGNC_3755-Orphanet_503-HP_0000006-GENCC_100009"	"HGNC:3755"	"FLNB"	"MONDO:0007875"	"Larsen syndrome"	"Orphanet:503"	"Orphanet:503"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3755"	"FLNB"	"Orphanet:503"	"Larsen syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16059"	"2021-09-14"
"GENCC_000110-HGNC_3755-Orphanet_56305-HP_0000006-GENCC_100009"	"HGNC:3755"	"FLNB"	"MONDO:0007168"	"atelosteogenesis type III"	"Orphanet:56305"	"Orphanet:56305"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3755"	"FLNB"	"Orphanet:56305"	"Atelosteogenesis type III"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16059"	"2021-09-14"
"GENCC_000110-HGNC_3756-Orphanet_63273-HP_0000006-GENCC_100009"	"HGNC:3756"	"FLNC"	"MONDO:0013550"	"distal myopathy with posterior leg and anterior hand involvement"	"Orphanet:63273"	"Orphanet:63273"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3756"	"FLNC"	"Orphanet:63273"	"Distal myopathy with posterior leg and anterior hand involvement"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21620354[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16060"	"2021-09-14"
"GENCC_000110-HGNC_3756-Orphanet_75249-HP_0000006-GENCC_100009"	"HGNC:3756"	"FLNC"	"MONDO:0019150"	"familial isolated restrictive cardiomyopathy"	"Orphanet:75249"	"Orphanet:75249"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3756"	"FLNC"	"Orphanet:75249"	"Familial isolated restrictive cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26666891[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16060"	"2021-09-14"
"GENCC_000110-HGNC_3756-Orphanet_171445-HP_0000006-GENCC_100009"	"HGNC:3756"	"FLNC"	"MONDO:0012289"	"myofibrillar myopathy 5"	"Orphanet:171445"	"Orphanet:171445"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3756"	"FLNC"	"Orphanet:171445"	"Muscle filaminopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15929027[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16060"	"2021-09-14"
"GENCC_000110-HGNC_3767-Orphanet_3303-HP_0000006-GENCC_100009"	"HGNC:3767"	"FLT4"	"MONDO:0008542"	"tetralogy of fallot"	"Orphanet:3303"	"Orphanet:3303"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3767"	"FLT4"	"Orphanet:3303"	"Tetralogy of Fallot"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30232381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16061"	"2021-09-14"
"GENCC_000110-HGNC_3767-Orphanet_79452-HP_0000006-GENCC_100009"	"HGNC:3767"	"FLT4"	"MONDO:0019313"	"lymphatic malformation"	"Orphanet:79452"	"Orphanet:79452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3767"	"FLT4"	"Orphanet:79452"	"Milroy disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301417[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16061"	"2021-09-14"
"GENCC_000110-HGNC_3771-Orphanet_468726-HP_0000007-GENCC_100009"	"HGNC:3771"	"FMO3"	"MONDO:0018767"	"severe primary trimethylaminuria"	"Orphanet:468726"	"Orphanet:468726"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3771"	"FMO3"	"Orphanet:468726"	"Severe primary trimethylaminuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301282[PMID]_19321370[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16062"	"2021-09-14"
"GENCC_000110-HGNC_3775-Orphanet_908-HP_0001417-GENCC_100009"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"fragile X syndrome"	"Orphanet:908"	"Orphanet:908"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3775"	"FMR1"	"Orphanet:908"	"Fragile X syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301558[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16063"	"2021-09-14"
"GENCC_000110-HGNC_3775-Orphanet_93256-HP_0001417-GENCC_100009"	"HGNC:3775"	"FMR1"	"MONDO:0010382"	"fragile X-associated tremor/ataxia syndrome"	"Orphanet:93256"	"Orphanet:93256"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3775"	"FMR1"	"Orphanet:93256"	"Fragile X-associated tremor/ataxia syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16063"	"2021-09-14"
"GENCC_000110-HGNC_3775-Orphanet_449291-HP_0001417-GENCC_100009"	"HGNC:3775"	"FMR1"	"MONDO:0018670"	"symptomatic form of fragile X syndrome in female carrier"	"Orphanet:449291"	"Orphanet:449291"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3775"	"FMR1"	"Orphanet:449291"	"Symptomatic form of fragile X syndrome in female carriers"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301558[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16063"	"2021-09-14"
"GENCC_000110-HGNC_3800-Orphanet_708-HP_0000006-GENCC_100009"	"HGNC:3800"	"FOXC1"	"MONDO:0011414"	"Peters anomaly"	"Orphanet:708"	"Orphanet:708"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3800"	"FOXC1"	"Orphanet:708"	"Peters anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9620769[PMID]_11170889[PMID]_12614756[PMID]_18498376[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16064"	"2021-09-14"
"GENCC_000110-HGNC_3800-Orphanet_782-HP_0000006-GENCC_100009"	"HGNC:3800"	"FOXC1"	"MONDO:0019187"	"Axenfeld-Rieger syndrome"	"Orphanet:782"	"Orphanet:782"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3800"	"FOXC1"	"Orphanet:782"	"Axenfeld-Rieger syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19513095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16064"	"2021-09-14"
"GENCC_000110-HGNC_3800-Orphanet_91483-HP_0000006-GENCC_100009"	"HGNC:3800"	"FOXC1"	"MONDO:0019628"	"Rieger anomaly"	"Orphanet:91483"	"Orphanet:91483"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3800"	"FOXC1"	"Orphanet:91483"	"Rieger anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9620769[PMID]_11170889[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16064"	"2021-09-14"
"GENCC_000110-HGNC_3800-Orphanet_98978-HP_0000006-GENCC_100009"	"HGNC:3800"	"FOXC1"	"MONDO:0020368"	"Axenfeld anomaly"	"Orphanet:98978"	"Orphanet:98978"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3800"	"FOXC1"	"Orphanet:98978"	"Axenfeld anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9620769[PMID]_11170889[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16064"	"2021-09-14"
"GENCC_000110-HGNC_3800-Orphanet_250923-HP_0000006-GENCC_100009"	"HGNC:3800"	"FOXC1"	"MONDO:0007119"	"isolated aniridia"	"Orphanet:250923"	"Orphanet:250923"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3800"	"FOXC1"	"Orphanet:250923"	"Isolated aniridia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19279310[PMID]_27124303[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16064"	"2021-09-14"
"GENCC_000110-HGNC_3801-Orphanet_33001-HP_0000006-GENCC_100009"	"HGNC:3801"	"FOXC2"	"MONDO:0007922"	"lymphedema-distichiasis syndrome"	"Orphanet:33001"	"Orphanet:33001"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3801"	"FOXC2"	"Orphanet:33001"	"Lymphedema-distichiasis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12383817[PMID]_20301630[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16065"	"2021-09-14"
"GENCC_000110-HGNC_3806-Orphanet_1226-HP_0000007-GENCC_100009"	"HGNC:3806"	"FOXE1"	"MONDO:0009437"	"Bamforth-Lazarus syndrome"	"Orphanet:1226"	"Orphanet:1226"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3806"	"FOXE1"	"Orphanet:1226"	"Bamforth-Lazarus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9697705[PMID]_12165566[PMID]_25905381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16066"	"2021-09-14"
"GENCC_000110-HGNC_3808-Orphanet_708-HP_0000006-GENCC_100009"	"HGNC:3808"	"FOXE3"	"MONDO:0011414"	"Peters anomaly"	"Orphanet:708"	"Orphanet:708"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3808"	"FOXE3"	"Orphanet:708"	"Peters anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27218149[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16067"	"2021-09-14"
"GENCC_000110-HGNC_3808-Orphanet_83461-HP_0000007-GENCC_100009"	"HGNC:3808"	"FOXE3"	"MONDO:0012456"	"congenital primary aphakia"	"Orphanet:83461"	"Orphanet:83461"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3808"	"FOXE3"	"Orphanet:83461"	"Congenital primary aphakia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16826526[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16067"	"2021-09-14"
"GENCC_000110-HGNC_3808-Orphanet_88632-HP_0000006-GENCC_100009"	"HGNC:3808"	"FOXE3"	"MONDO:0019503"	"anterior segment dysgenesis"	"Orphanet:88632"	"Orphanet:88632"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3808"	"FOXE3"	"Orphanet:88632"	"Anterior segment developmental anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21150893[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16067"	"2021-09-14"
"GENCC_000110-HGNC_3808-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:3808"	"FOXE3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3808"	"FOXE3"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26854927[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16067"	"2021-09-14"
"GENCC_000110-HGNC_6106-Orphanet_37042-HP_0001417-GENCC_100009"	"HGNC:6106"	"FOXP3"	"MONDO:0010580"	"immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"	"Orphanet:37042"	"Orphanet:37042"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6106"	"FOXP3"	"Orphanet:37042"	"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11137993[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16070"	"2021-09-14"
"GENCC_000110-HGNC_19185-Orphanet_2052-HP_0000007-GENCC_100009"	"HGNC:19185"	"FRAS1"	"MONDO:0009046"	"Fraser syndrome"	"Orphanet:2052"	"Orphanet:2052"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19185"	"FRAS1"	"Orphanet:2052"	"Fraser syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23473829[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16071"	"2021-09-14"
"GENCC_000110-HGNC_19185-Orphanet_93100-HP_0000006-GENCC_100009"	"HGNC:19185"	"FRAS1"	"MONDO:0019636"	"renal agenesis, unilateral"	"Orphanet:93100"	"Orphanet:93100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19185"	"FRAS1"	"Orphanet:93100"	"Renal agenesis, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21900877[PMID]_24700879[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16071"	"2021-09-14"
"GENCC_000110-HGNC_25396-Orphanet_2052-HP_0000007-GENCC_100009"	"HGNC:25396"	"FREM2"	"MONDO:0009046"	"Fraser syndrome"	"Orphanet:2052"	"Orphanet:2052"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25396"	"FREM2"	"Orphanet:2052"	"Fraser syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18671281[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16072"	"2021-09-14"
"GENCC_000110-HGNC_25396-Orphanet_93100-HP_0000006-GENCC_100009"	"HGNC:25396"	"FREM2"	"MONDO:0019636"	"renal agenesis, unilateral"	"Orphanet:93100"	"Orphanet:93100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25396"	"FREM2"	"Orphanet:93100"	"Renal agenesis, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21900877[PMID]_24700879[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16072"	"2021-09-14"
"GENCC_000110-HGNC_3960-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:3960"	"FSCN2"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3960"	"FSCN2"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16075"	"2021-09-14"
"GENCC_000110-HGNC_3964-Orphanet_52901-HP_0000007-GENCC_100009"	"HGNC:3964"	"FSHB"	"MONDO:0009239"	"hypogonadotropic hypogonadism 24 without anosmia"	"Orphanet:52901"	"Orphanet:52901"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3964"	"FSHB"	"Orphanet:52901"	"Isolated follicle stimulating hormone deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15705395[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16076"	"2021-09-14"
"GENCC_000110-HGNC_3969-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:3969"	"FSHR"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3969"	"FSHR"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7553856[PMID]_11889179[PMID]_12571157[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16077"	"2021-09-14"
"GENCC_000110-HGNC_3974-Orphanet_51208-HP_0000007-GENCC_100009"	"HGNC:3974"	"FTCD"	"MONDO:0009240"	"formiminoglutamic aciduria"	"Orphanet:51208"	"Orphanet:51208"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3974"	"FTCD"	"Orphanet:51208"	"Formiminoglutamic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12815595[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16079"	"2021-09-14"
"GENCC_000110-HGNC_3999-Orphanet_163-HP_0000006-GENCC_100009"	"HGNC:3999"	"FTL"	"MONDO:0010952"	"hereditary hyperferritinemia with congenital cataracts"	"Orphanet:163"	"Orphanet:163"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3999"	"FTL"	"Orphanet:163"	"Hereditary hyperferritinemia-cataract syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10759702[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16080"	"2021-09-14"
"GENCC_000110-HGNC_3999-Orphanet_157846-HP_0000006-GENCC_100009"	"HGNC:3999"	"FTL"	"MONDO:0011638"	"neuroferritinopathy"	"Orphanet:157846"	"Orphanet:157846"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3999"	"FTL"	"Orphanet:157846"	"Neuroferritinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16116125[PMID]_23447832[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16080"	"2021-09-14"
"GENCC_000110-HGNC_3999-Orphanet_254704-HP_0000006-GENCC_100009"	"HGNC:3999"	"FTL"	"MONDO:0016788"	"genetic hyperferritinemia without iron overload"	"Orphanet:254704"	"Orphanet:254704"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3999"	"FTL"	"Orphanet:254704"	"Genetic hyperferritinemia without iron overload"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19176363[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16080"	"2021-09-14"
"GENCC_000110-HGNC_3999-Orphanet_440731-HP_0000006-GENCC_100009"	"HGNC:3999"	"FTL"	"MONDO:0014274"	"L-ferritin deficiency"	"Orphanet:440731"	"Orphanet:440731"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3999"	"FTL"	"Orphanet:440731"	"L-ferritin deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16080"	"2021-09-14"
"GENCC_000110-HGNC_13254-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:13254"	"FTSJ1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:13254"	"FTSJ1"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18081026[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16081"	"2021-09-14"
"GENCC_000110-HGNC_4006-Orphanet_349-HP_0000007-GENCC_100009"	"HGNC:4006"	"FUCA1"	"MONDO:0009254"	"fucosidosis"	"Orphanet:349"	"Orphanet:349"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4006"	"FUCA1"	"Orphanet:349"	"Fucosidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10094192[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16082"	"2021-09-14"
"GENCC_000110-HGNC_3951-Orphanet_95-HP_0000007-GENCC_100009"	"HGNC:3951"	"FXN"	"MONDO:0009245"	"Friedreich ataxia"	"Orphanet:95"	"Orphanet:95"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3951"	"FXN"	"Orphanet:95"	"Friedreich ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21776984[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16083"	"2021-09-14"
"GENCC_000110-HGNC_4026-Orphanet_34528-HP_0000006-GENCC_100009"	"HGNC:4026"	"FXYD2"	"MONDO:0007937"	"renal hypomagnesemia 2"	"Orphanet:34528"	"Orphanet:34528"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4026"	"FXYD2"	"Orphanet:34528"	"Autosomal dominant primary hypomagnesemia with hypocalciuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17980699[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16084"	"2021-09-14"
"GENCC_000110-HGNC_4042-Orphanet_891-HP_0000006-GENCC_100009"	"HGNC:4042"	"FZD4"	"MONDO:0019516"	"exudative vitreoretinopathy"	"Orphanet:891"	"Orphanet:891"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4042"	"FZD4"	"Orphanet:891"	"Familial exudative vitreoretinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301326[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16085"	"2021-09-14"
"GENCC_000110-HGNC_4042-Orphanet_91495-HP_0000006-GENCC_100009"	"HGNC:4042"	"FZD4"	"MONDO:0019631"	"persistent hyperplastic primary vitreous"	"Orphanet:91495"	"Orphanet:91495"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4042"	"FZD4"	"Orphanet:91495"	"Persistent hyperplastic primary vitreous"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19172507[PMID]_20092598[PMID]_20301506[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16085"	"2021-09-14"
"GENCC_000110-HGNC_4057-Orphanet_466026-HP_0001417-GENCC_100009"	"HGNC:4057"	"G6PD"	"MONDO:0018750"	"class I glucose-6-phosphate dehydrogenase deficiency"	"Orphanet:466026"	"Orphanet:466026"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4057"	"G6PD"	"Orphanet:466026"	"Class I glucose-6-phosphate dehydrogenase deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7577654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16087"	"2021-09-14"
"GENCC_000110-HGNC_4065-Orphanet_308552-HP_0000007-GENCC_100009"	"HGNC:4065"	"GAA"	"MONDO:0017694"	"glycogen storage disease due to acid maltase deficiency, infantile onset"	"Orphanet:308552"	"Orphanet:308552"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4065"	"GAA"	"Orphanet:308552"	"Glycogen storage disease due to acid maltase deficiency, infantile onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16088"	"2021-09-14"
"GENCC_000110-HGNC_4065-Orphanet_420429-HP_0000007-GENCC_100009"	"HGNC:4065"	"GAA"	"MONDO:0018485"	"glycogen storage disease due to acid maltase deficiency, late-onset"	"Orphanet:420429"	"Orphanet:420429"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4065"	"GAA"	"Orphanet:420429"	"Glycogen storage disease due to acid maltase deficiency, late-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16088"	"2021-09-14"
"GENCC_000110-HGNC_4075-Orphanet_307-HP_0000006-GENCC_100009"	"HGNC:4075"	"GABRA1"	"MONDO:0009696"	"juvenile myoclonic epilepsy"	"Orphanet:307"	"Orphanet:307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4075"	"GABRA1"	"Orphanet:307"	"Juvenile myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23756480[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16089"	"2021-09-14"
"GENCC_000110-HGNC_4075-Orphanet_33069-HP_0000006-GENCC_100009"	"HGNC:4075"	"GABRA1"	"MONDO:0011794"	"Dravet syndrome"	"Orphanet:33069"	"Orphanet:33069"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4075"	"GABRA1"	"Orphanet:33069"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24623842[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16089"	"2021-09-14"
"GENCC_000110-HGNC_4087-Orphanet_1945-HP_0000006-GENCC_100009"	"HGNC:4087"	"GABRG2"	"MONDO:0007295"	"self-limited epilepsy with centrotemporal spikes"	"Orphanet:1945"	"Orphanet:1945"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4087"	"GABRG2"	"Orphanet:1945"	"Rolandic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25726841[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16091"	"2021-09-14"
"GENCC_000110-HGNC_4087-Orphanet_33069-HP_0000006-GENCC_100009"	"HGNC:4087"	"GABRG2"	"MONDO:0011794"	"Dravet syndrome"	"Orphanet:33069"	"Orphanet:33069"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4087"	"GABRG2"	"Orphanet:33069"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11748509[PMID]_23093055[PMID]_21463275[PMID]_22787626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16091"	"2021-09-14"
"GENCC_000110-HGNC_4087-Orphanet_36387-HP_0000006-GENCC_100009"	"HGNC:4087"	"GABRG2"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"Orphanet:36387"	"Orphanet:36387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4087"	"GABRG2"	"Orphanet:36387"	"Generalized epilepsy with febrile seizures-plus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16091"	"2021-09-14"
"GENCC_000110-HGNC_4087-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:4087"	"GABRG2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4087"	"GABRG2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27864268[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16091"	"2021-09-14"
"GENCC_000110-HGNC_4118-Orphanet_79237-HP_0000007-GENCC_100009"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"galactokinase deficiency"	"Orphanet:79237"	"Orphanet:79237"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4118"	"GALK1"	"Orphanet:79237"	"Galactokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10521295[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16094"	"2021-09-14"
"GENCC_000110-HGNC_4122-Orphanet_309297-HP_0000007-GENCC_100009"	"HGNC:4122"	"GALNS"	"MONDO:0009659"	"mucopolysaccharidosis type 4A"	"Orphanet:309297"	"Orphanet:309297"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4122"	"GALNS"	"Orphanet:309297"	"Mucopolysaccharidosis type 4A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23844448[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16095"	"2021-09-14"
"GENCC_000110-HGNC_4125-Orphanet_306661-HP_0000007-GENCC_100009"	"HGNC:4125"	"GALNT3"	"MONDO:0008897"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"Orphanet:306661"	"Orphanet:306661"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4125"	"GALNT3"	"Orphanet:306661"	"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15133511[PMID]_21347749[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16096"	"2021-09-14"
"GENCC_000110-HGNC_4135-Orphanet_79239-HP_0000007-GENCC_100009"	"HGNC:4135"	"GALT"	"MONDO:0009258"	"classic galactosemia"	"Orphanet:79239"	"Orphanet:79239"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4135"	"GALT"	"Orphanet:79239"	"Classic galactosemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301691[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16097"	"2021-09-14"
"GENCC_000110-HGNC_4136-Orphanet_382-HP_0000007-GENCC_100009"	"HGNC:4136"	"GAMT"	"MONDO:0012999"	"guanidinoacetate methyltransferase deficiency"	"Orphanet:382"	"Orphanet:382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4136"	"GAMT"	"Orphanet:382"	"Guanidinoacetate methyltransferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301745[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16098"	"2021-09-14"
"GENCC_000110-HGNC_4137-Orphanet_643-HP_0000007-GENCC_100009"	"HGNC:4137"	"GAN"	"MONDO:0009749"	"giant axonal neuropathy 1"	"Orphanet:643"	"Orphanet:643"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4137"	"GAN"	"Orphanet:643"	"Giant axonal neuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301315[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16099"	"2021-09-14"
"GENCC_000110-HGNC_4162-Orphanet_99938-HP_0000006-GENCC_100009"	"HGNC:4162"	"GARS1"	"MONDO:0011091"	"Charcot-Marie-Tooth disease type 2D"	"Orphanet:99938"	"Orphanet:99938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4162"	"GARS1"	"Orphanet:99938"	"Autosomal dominant Charcot-Marie-Tooth disease type 2D"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16101"	"2021-09-14"
"GENCC_000110-HGNC_4162-Orphanet_139536-HP_0000006-GENCC_100009"	"HGNC:4162"	"GARS1"	"MONDO:0015353"	"neuronopathy, distal hereditary motor, type 5A"	"Orphanet:139536"	"Orphanet:139536"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4162"	"GARS1"	"Orphanet:139536"	"Distal hereditary motor neuropathy type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301420[PMID]_12690580[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16101"	"2021-09-14"
"GENCC_000110-HGNC_4170-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:4170"	"GATA1"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4170"	"GATA1"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24952648[PMID]_22706301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16102"	"2021-09-14"
"GENCC_000110-HGNC_4170-Orphanet_67044-HP_0001417-GENCC_100009"	"HGNC:4170"	"GATA1"	"MONDO:0019031"	"thrombocytopenia with congenital dyserythropoietic anemia"	"Orphanet:67044"	"Orphanet:67044"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4170"	"GATA1"	"Orphanet:67044"	"Thrombocytopenia with congenital dyserythropoietic anemia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16102"	"2021-09-14"
"GENCC_000110-HGNC_4170-Orphanet_79277-HP_0000007-GENCC_100009"	"HGNC:4170"	"GATA1"	"MONDO:0009902"	"cutaneous porphyria"	"Orphanet:79277"	"Orphanet:79277"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4170"	"GATA1"	"Orphanet:79277"	"Congenital erythropoietic porphyria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24027798[PMID]_17148589[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16102"	"2021-09-14"
"GENCC_000110-HGNC_4170-Orphanet_231393-HP_0001417-GENCC_100009"	"HGNC:4170"	"GATA1"	"MONDO:0010745"	"beta-thalassemia-X-linked thrombocytopenia syndrome"	"Orphanet:231393"	"Orphanet:231393"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4170"	"GATA1"	"Orphanet:231393"	"Beta-thalassemia-X-linked thrombocytopenia syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301538[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16102"	"2021-09-14"
"GENCC_000110-HGNC_4170-Orphanet_363727-HP_0001417-GENCC_100009"	"HGNC:4170"	"GATA1"	"MONDO:0010444"	"X-linked dyserythropoetic anemia with abnormal platelets and neutropenia"	"Orphanet:363727"	"Orphanet:363727"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4170"	"GATA1"	"Orphanet:363727"	"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16783379[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16102"	"2021-09-14"
"GENCC_000110-HGNC_4172-Orphanet_2237-HP_0000006-GENCC_100009"	"HGNC:4172"	"GATA3"	"MONDO:0007797"	"hypoparathyroidism-deafness-renal disease syndrome"	"Orphanet:2237"	"Orphanet:2237"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4172"	"GATA3"	"Orphanet:2237"	"Hypoparathyroidism-sensorineural deafness-renal disease syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10935639[PMID]_21120445[PMID]_23757620[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16103"	"2021-09-14"
"GENCC_000110-HGNC_4173-Orphanet_3303-HP_0000006-GENCC_100009"	"HGNC:4173"	"GATA4"	"MONDO:0008542"	"tetralogy of fallot"	"Orphanet:3303"	"Orphanet:3303"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4173"	"GATA4"	"Orphanet:3303"	"Tetralogy of Fallot"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24000169[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16104"	"2021-09-14"
"GENCC_000110-HGNC_4173-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:4173"	"GATA4"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4173"	"GATA4"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21708142[PMID]_21874226[PMID]_22552926[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16104"	"2021-09-14"
"GENCC_000110-HGNC_4173-Orphanet_251510-HP_0000006-GENCC_100009"	"HGNC:4173"	"GATA4"	"MONDO:0016674"	"46,XY partial gonadal dysgenesis"	"Orphanet:251510"	"Orphanet:251510"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4173"	"GATA4"	"Orphanet:251510"	"46,XY partial gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21220346[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16104"	"2021-09-14"
"GENCC_000110-HGNC_4175-Orphanet_3337-HP_0000006-GENCC_100009"	"HGNC:4175"	"GATM"	"MONDO:0007600"	"primary Fanconi syndrome"	"Orphanet:3337"	"Orphanet:3337"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4175"	"GATM"	"Orphanet:3337"	"Primary Fanconi renotubular syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29654216[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16105"	"2021-09-14"
"GENCC_000110-HGNC_4175-Orphanet_35704-HP_0000007-GENCC_100009"	"HGNC:4175"	"GATM"	"MONDO:0012996"	"AGAT deficiency"	"Orphanet:35704"	"Orphanet:35704"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4175"	"GATM"	"Orphanet:35704"	"L-Arginine:glycine amidinotransferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301745[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16105"	"2021-09-14"
"GENCC_000110-HGNC_4177-Orphanet_2072-HP_0000007-GENCC_100009"	"HGNC:4177"	"GBA1"	"MONDO:0009268"	"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"	"Orphanet:2072"	"Orphanet:2072"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4177"	"GBA"	"Orphanet:2072"	"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10636167[PMID]_20301446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16106"	"2021-09-14"
"GENCC_000110-HGNC_4177-Orphanet_77259-HP_0000007-GENCC_100009"	"HGNC:4177"	"GBA1"	"MONDO:0009265"	"Gaucher disease type I"	"Orphanet:77259"	"Orphanet:77259"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4177"	"GBA"	"Orphanet:77259"	"Gaucher disease type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16106"	"2021-09-14"
"GENCC_000110-HGNC_4177-Orphanet_77260-HP_0000007-GENCC_100009"	"HGNC:4177"	"GBA1"	"MONDO:0009266"	"Gaucher disease type II"	"Orphanet:77260"	"Orphanet:77260"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4177"	"GBA"	"Orphanet:77260"	"Gaucher disease type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16106"	"2021-09-14"
"GENCC_000110-HGNC_4177-Orphanet_77261-HP_0000007-GENCC_100009"	"HGNC:4177"	"GBA1"	"MONDO:0009267"	"Gaucher disease type III"	"Orphanet:77261"	"Orphanet:77261"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4177"	"GBA"	"Orphanet:77261"	"Gaucher disease type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16106"	"2021-09-14"
"GENCC_000110-HGNC_4180-Orphanet_206583-HP_0000007-GENCC_100009"	"HGNC:4180"	"GBE1"	"MONDO:0009897"	"adult polyglucosan body disease"	"Orphanet:206583"	"Orphanet:206583"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4180"	"GBE1"	"Orphanet:206583"	"Adult polyglucosan body disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10762170[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16107"	"2021-09-14"
"GENCC_000110-HGNC_4189-Orphanet_25-HP_0000007-GENCC_100009"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"Orphanet:25"	"Orphanet:25"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4189"	"GCDH"	"Orphanet:25"	"Glutaryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18775954[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16108"	"2021-09-14"
"GENCC_000110-HGNC_4193-Orphanet_2102-HP_0000007-GENCC_100009"	"HGNC:4193"	"GCH1"	"MONDO:0100186"	"GTP cyclohydrolase I deficiency with hyperphenylalaninemia"	"Orphanet:2102"	"Orphanet:2102"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4193"	"GCH1"	"Orphanet:2102"	"GTP cyclohydrolase I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16109"	"2021-09-14"
"GENCC_000110-HGNC_4193-Orphanet_98808-HP_0000006-GENCC_100009"	"HGNC:4193"	"GCH1"	"MONDO:0007495"	"dystonia 5"	"Orphanet:98808"	"Orphanet:98808"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4193"	"GCH1"	"Orphanet:98808"	"Autosomal dominant dopa-responsive dystonia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16109"	"2021-09-14"
"GENCC_000110-HGNC_4195-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:4195"	"GCK"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4195"	"GCK"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16110"	"2021-09-14"
"GENCC_000110-HGNC_4195-Orphanet_79299-HP_0000006-GENCC_100009"	"HGNC:4195"	"GCK"	"MONDO:0011236"	"hyperinsulinism due to glucokinase deficiency"	"Orphanet:79299"	"Orphanet:79299"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4195"	"GCK"	"Orphanet:79299"	"Hyperinsulinism due to glucokinase deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9435328[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16110"	"2021-09-14"
"GENCC_000110-HGNC_4195-Orphanet_99885-HP_0000006-GENCC_100009"	"HGNC:4195"	"GCK"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"Orphanet:99885"	"Orphanet:99885"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4195"	"GCK"	"Orphanet:99885"	"Isolated permanent neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]_20301620[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16110"	"2021-09-14"
"GENCC_000110-HGNC_4311-Orphanet_33574-HP_0000007-GENCC_100009"	"HGNC:4311"	"GCLC"	"MONDO:0009259"	"gamma-glutamylcysteine synthetase deficiency"	"Orphanet:33574"	"Orphanet:33574"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4311"	"GCLC"	"Orphanet:33574"	"Glutamate-cysteine ligase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10515893[PMID]_18024385[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16111"	"2021-09-14"
"GENCC_000110-HGNC_4208-Orphanet_289857-HP_0000007-GENCC_100009"	"HGNC:4208"	"GCSH"	"MONDO:0017353"	"neonatal glycine encephalopathy"	"Orphanet:289857"	"Orphanet:289857"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4208"	"GCSH"	"Orphanet:289857"	"Neonatal glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16112"	"2021-09-14"
"GENCC_000110-HGNC_4208-Orphanet_289860-HP_0000007-GENCC_100009"	"HGNC:4208"	"GCSH"	"MONDO:0017354"	"infantile glycine encephalopathy"	"Orphanet:289860"	"Orphanet:289860"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4208"	"GCSH"	"Orphanet:289860"	"Infantile glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16112"	"2021-09-14"
"GENCC_000110-HGNC_4208-Orphanet_289863-HP_0000005-GENCC_100009"	"HGNC:4208"	"GCSH"	"MONDO:0015010"	"atypical glycine encephalopathy"	"Orphanet:289863"	"Orphanet:289863"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:4208"	"GCSH"	"Orphanet:289863"	"Atypical glycine encephalopathy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16112"	"2021-09-14"
"GENCC_000110-HGNC_15968-Orphanet_99944-HP_0000006-GENCC_100009"	"HGNC:15968"	"GDAP1"	"MONDO:0020558"	"autosomal dominant Charcot-Marie-Tooth disease type 2K"	"Orphanet:99944"	"Orphanet:99944"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15968"	"GDAP1"	"Orphanet:99944"	"Autosomal dominant Charcot-Marie-Tooth disease type 2K"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16113"	"2021-09-14"
"GENCC_000110-HGNC_15968-Orphanet_99948-HP_0000007-GENCC_100009"	"HGNC:15968"	"GDAP1"	"MONDO:0008961"	"Charcot-Marie-Tooth disease type 4A"	"Orphanet:99948"	"Orphanet:99948"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15968"	"GDAP1"	"Orphanet:99948"	"Charcot-Marie-Tooth disease type 4A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301711[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16113"	"2021-09-14"
"GENCC_000110-HGNC_15968-Orphanet_101097-HP_0000007-GENCC_100009"	"HGNC:15968"	"GDAP1"	"MONDO:0011916"	"Charcot-Marie-Tooth disease axonal type 2K"	"Orphanet:101097"	"Orphanet:101097"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15968"	"GDAP1"	"Orphanet:101097"	"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16113"	"2021-09-14"
"GENCC_000110-HGNC_15968-Orphanet_217055-HP_0000007-GENCC_100009"	"HGNC:15968"	"GDAP1"	"MONDO:0012014"	"Charcot-Marie-Tooth disease recessive intermediate A"	"Orphanet:217055"	"Orphanet:217055"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15968"	"GDAP1"	"Orphanet:217055"	"Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12566285[PMID]_12499475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16113"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_968-HP_0000007-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0008717"	"acromesomelic dysplasia 2C, Hunter-Thompson type"	"Orphanet:968"	"Orphanet:968"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:968"	"Acromesomelic dysplasia, Hunter-Thompson type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8589725[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_2098-HP_0000007-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0008703"	"acromesomelic dysplasia 2A"	"Orphanet:2098"	"Orphanet:2098"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:2098"	"Acromesomelic dysplasia, Grebe type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_2639-HP_0000007-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0009231"	"acromesomelic dysplasia 2B"	"Orphanet:2639"	"Orphanet:2639"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:2639"	"Fibular aplasia-complex brachydactyly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16222676[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_3237-HP_0000006-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0017923"	"multiple synostoses syndrome"	"Orphanet:3237"	"Orphanet:3237"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:3237"	"Multiple synostoses syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16532400[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_3250-HP_0000006-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0008511"	"proximal symphalangism"	"Orphanet:3250"	"Orphanet:3250"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:3250"	"Proximal symphalangism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18283415[PMID]_16892395[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_63442-HP_0000006-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0007114"	"Angel-shaped phalango-epiphyseal dysplasia"	"Orphanet:63442"	"Orphanet:63442"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:63442"	"Angel-shaped phalango-epiphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15173244[PMID]_22828428[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_93384-HP_0000006-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0007221"	"brachydactyly type C"	"Orphanet:93384"	"Orphanet:93384"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:93384"	"Brachydactyly type C"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12357473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_93388-HP_0000006-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0007215"	"brachydactyly type A1"	"Orphanet:93388"	"Orphanet:93388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:93388"	"Brachydactyly type A1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20683927[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4220-Orphanet_93396-HP_0000006-GENCC_100009"	"HGNC:4220"	"GDF5"	"MONDO:0007216"	"brachydactyly type A2"	"Orphanet:93396"	"Orphanet:93396"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4220"	"GDF5"	"Orphanet:93396"	"Brachydactyly type A2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16014698[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16114"	"2021-09-14"
"GENCC_000110-HGNC_4226-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:4226"	"GDI1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4226"	"GDI1"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22002931[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16115"	"2021-09-14"
"GENCC_000110-HGNC_4235-Orphanet_363722-HP_0000006-GENCC_100009"	"HGNC:4235"	"GFAP"	"MONDO:0018210"	"Alexander disease type II"	"Orphanet:363722"	"Orphanet:363722"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4235"	"GFAP"	"Orphanet:363722"	"Alexander disease type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301351[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16117"	"2021-09-14"
"GENCC_000110-HGNC_4237-Orphanet_486-HP_0000006-GENCC_100009"	"HGNC:4237"	"GFI1"	"MONDO:0008742"	"autosomal dominant severe congenital neutropenia"	"Orphanet:486"	"Orphanet:486"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4237"	"GFI1"	"Orphanet:486"	"Autosomal dominant severe congenital neutropenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12778173[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16118"	"2021-09-14"
"GENCC_000110-HGNC_4247-Orphanet_91135-HP_0000007-GENCC_100009"	"HGNC:4247"	"GGCX"	"MONDO:0012570"	"body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"	"Orphanet:91135"	"Orphanet:91135"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4247"	"GGCX"	"Orphanet:91135"	"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17110937[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16119"	"2021-09-14"
"GENCC_000110-HGNC_4247-Orphanet_98434-HP_0000007-GENCC_100009"	"HGNC:4247"	"GGCX"	"MONDO:0010187"	"vitamin K-dependent clotting factors, combined deficiency of, type 1"	"Orphanet:98434"	"Orphanet:98434"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4247"	"GGCX"	"Orphanet:98434"	"Hereditary combined deficiency of vitamin K-dependent clotting factors"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16720838[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16119"	"2021-09-14"
"GENCC_000110-HGNC_4247-Orphanet_436274-HP_0000007-GENCC_100009"	"HGNC:4247"	"GGCX"	"MONDO:0018577"	"pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"	"Orphanet:436274"	"Orphanet:436274"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4247"	"GGCX"	"Orphanet:436274"	"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24739904[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16119"	"2021-09-14"
"GENCC_000110-HGNC_4261-Orphanet_629-HP_0000007-GENCC_100009"	"HGNC:4261"	"GH1"	"MONDO:0009879"	"short stature due to growth hormone qualitative anomaly"	"Orphanet:629"	"Orphanet:629"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4261"	"GH1"	"Orphanet:629"	"Short stature due to growth hormone qualitative anomaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8552145[PMID]_9276733[PMID]_15713716[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16121"	"2021-09-14"
"GENCC_000110-HGNC_4261-Orphanet_231662-HP_0000007-GENCC_100009"	"HGNC:4261"	"GH1"	"MONDO:0009876"	"isolated growth hormone deficiency type IA"	"Orphanet:231662"	"Orphanet:231662"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4261"	"GH1"	"Orphanet:231662"	"Isolated growth hormone deficiency type IA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19762173[PMID]_22139958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16121"	"2021-09-14"
"GENCC_000110-HGNC_4261-Orphanet_231671-HP_0000007-GENCC_100009"	"HGNC:4261"	"GH1"	"MONDO:0013006"	"isolated growth hormone deficiency type IB"	"Orphanet:231671"	"Orphanet:231671"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4261"	"GH1"	"Orphanet:231671"	"Isolated growth hormone deficiency type IB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19762173[PMID]_22139958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16121"	"2021-09-14"
"GENCC_000110-HGNC_4261-Orphanet_231679-HP_0000006-GENCC_100009"	"HGNC:4261"	"GH1"	"MONDO:0008250"	"isolated growth hormone deficiency type II"	"Orphanet:231679"	"Orphanet:231679"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4261"	"GH1"	"Orphanet:231679"	"Isolated growth hormone deficiency type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19762173[PMID]_22139958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16121"	"2021-09-14"
"GENCC_000110-HGNC_4263-Orphanet_633-HP_0000007-GENCC_100009"	"HGNC:4263"	"GHR"	"MONDO:0009877"	"Laron syndrome"	"Orphanet:633"	"Orphanet:633"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4263"	"GHR"	"Orphanet:633"	"Laron syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18406284[PMID]_24664892[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16122"	"2021-09-14"
"GENCC_000110-HGNC_4263-Orphanet_314802-HP_0000005-GENCC_100009"	"HGNC:4263"	"GHR"	"MONDO:0011420"	"short stature due to partial GHR deficiency"	"Orphanet:314802"	"Orphanet:314802"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:4263"	"GHR"	"Orphanet:314802"	"Short stature due to partial GHR deficiency"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16122"	"2021-09-14"
"GENCC_000110-HGNC_4266-Orphanet_231671-HP_0000007-GENCC_100009"	"HGNC:4266"	"GHRHR"	"MONDO:0013006"	"isolated growth hormone deficiency type IB"	"Orphanet:231671"	"Orphanet:231671"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4266"	"GHRHR"	"Orphanet:231671"	"Isolated growth hormone deficiency type IB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19762173[PMID]_22139958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16123"	"2021-09-14"
"GENCC_000110-HGNC_4268-Orphanet_332-HP_0000007-GENCC_100009"	"HGNC:4268"	"CBLIF"	"MONDO:0009852"	"hereditary intrinsic factor deficiency"	"Orphanet:332"	"Orphanet:332"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4268"	"CBLIF"	"Orphanet:332"	"Congenital intrinsic factor deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14695536[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16124"	"2021-09-14"
"GENCC_000110-HGNC_4274-Orphanet_1010-HP_0000006-GENCC_100009"	"HGNC:4274"	"GJA1"	"MONDO:0007083"	"autosomal dominant palmoplantar keratoderma and congenital alopecia"	"Orphanet:1010"	"Orphanet:1010"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4274"	"GJA1"	"Orphanet:1010"	"Autosomal dominant palmoplantar keratoderma and congenital alopecia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25168385[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16125"	"2021-09-14"
"GENCC_000110-HGNC_4274-Orphanet_1522-HP_0000006-GENCC_100009"	"HGNC:4274"	"GJA1"	"MONDO:0015465"	"craniometaphyseal dysplasia"	"Orphanet:1522"	"Orphanet:1522"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4274"	"GJA1"	"Orphanet:1522"	"Craniometaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23951358[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16125"	"2021-09-14"
"GENCC_000110-HGNC_4274-Orphanet_2710-HP_0000006-GENCC_100009"	"HGNC:4274"	"GJA1"	"MONDO:0008111"	"oculodentodigital dysplasia"	"Orphanet:2710"	"Orphanet:2710"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4274"	"GJA1"	"Orphanet:2710"	"Oculodentodigital dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16378922[PMID]_24508941[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16125"	"2021-09-14"
"GENCC_000110-HGNC_4274-Orphanet_317-HP_0000006-GENCC_100009"	"HGNC:4274"	"GJA1"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"Orphanet:317"	"Orphanet:317"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4274"	"GJA1"	"Orphanet:317"	"Erythrokeratodermia variabilis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25398053[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16125"	"2021-09-14"
"GENCC_000110-HGNC_4274-Orphanet_93404-HP_0000006-GENCC_100009"	"HGNC:4274"	"GJA1"	"MONDO:0008514"	"syndactyly type 3"	"Orphanet:93404"	"Orphanet:93404"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4274"	"GJA1"	"Orphanet:93404"	"Syndactyly type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12457340[PMID]_14729836[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16125"	"2021-09-14"
"GENCC_000110-HGNC_17494-Orphanet_79452-HP_0000006-GENCC_100009"	"HGNC:17494"	"GJC2"	"MONDO:0019313"	"lymphatic malformation"	"Orphanet:79452"	"Orphanet:79452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17494"	"GJC2"	"Orphanet:79452"	"Milroy disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537300[PMID]_21266381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16126"	"2021-09-14"
"GENCC_000110-HGNC_17494-Orphanet_280282-HP_0000007-GENCC_100009"	"HGNC:17494"	"GJC2"	"MONDO:0012125"	"hypomyelinating leukodystrophy 2"	"Orphanet:280282"	"Orphanet:280282"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17494"	"GJC2"	"Orphanet:280282"	"Pelizaeus-Merzbacher-like disease due to GJC2 mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22669416[PMID]_24374284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16126"	"2021-09-14"
"GENCC_000110-HGNC_17494-Orphanet_320401-HP_0000007-GENCC_100009"	"HGNC:17494"	"GJC2"	"MONDO:0013179"	"hereditary spastic paraplegia 44"	"Orphanet:320401"	"Orphanet:320401"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17494"	"GJC2"	"Orphanet:320401"	"Autosomal recessive spastic paraplegia type 44"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19056803[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16126"	"2021-09-14"
"GENCC_000110-HGNC_4277-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:4277"	"GJA3"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4277"	"GJA3"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876138[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16127"	"2021-09-14"
"GENCC_000110-HGNC_4277-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:4277"	"GJA3"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4277"	"GJA3"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16234473[PMID]_20431721[PMID]_21552498[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16127"	"2021-09-14"
"GENCC_000110-HGNC_4277-Orphanet_98993-HP_0000006-GENCC_100009"	"HGNC:4277"	"GJA3"	"MONDO:0020378"	"early-onset posterior polar cataract"	"Orphanet:98993"	"Orphanet:98993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4277"	"GJA3"	"Orphanet:98993"	"Early-onset posterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21031021[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16127"	"2021-09-14"
"GENCC_000110-HGNC_4281-Orphanet_1377-HP_0000006-GENCC_100009"	"HGNC:4281"	"GJA8"	"MONDO:0015300"	"cataract - microcornea syndrome"	"Orphanet:1377"	"Orphanet:1377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4281"	"GJA8"	"Orphanet:1377"	"Cataract-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20806042[PMID]_17724170[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16128"	"2021-09-14"
"GENCC_000110-HGNC_4281-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:4281"	"GJA8"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4281"	"GJA8"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18006672[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16128"	"2021-09-14"
"GENCC_000110-HGNC_4281-Orphanet_98985-HP_0000006-GENCC_100009"	"HGNC:4281"	"GJA8"	"MONDO:0020372"	"early-onset sutural cataract"	"Orphanet:98985"	"Orphanet:98985"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4281"	"GJA8"	"Orphanet:98985"	"Early-onset sutural cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18587493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16128"	"2021-09-14"
"GENCC_000110-HGNC_4281-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:4281"	"GJA8"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4281"	"GJA8"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14627691[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16128"	"2021-09-14"
"GENCC_000110-HGNC_4281-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:4281"	"GJA8"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4281"	"GJA8"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17601931[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16128"	"2021-09-14"
"GENCC_000110-HGNC_4283-Orphanet_1175-HP_0001417-GENCC_100009"	"HGNC:4283"	"GJB1"	"MONDO:0010547"	"X-linked progressive cerebellar ataxia"	"Orphanet:1175"	"Orphanet:1175"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4283"	"GJB1"	"Orphanet:1175"	"X-linked progressive cerebellar ataxia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23773993[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16129"	"2021-09-14"
"GENCC_000110-HGNC_4283-Orphanet_101075-HP_0001417-GENCC_100009"	"HGNC:4283"	"GJB1"	"MONDO:0010549"	"Charcot-Marie-Tooth disease X-linked dominant 1"	"Orphanet:101075"	"Orphanet:101075"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4283"	"GJB1"	"Orphanet:101075"	"X-linked Charcot-Marie-Tooth disease type 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301548[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16129"	"2021-09-14"
"GENCC_000110-HGNC_4284-Orphanet_477-HP_0000006-GENCC_100009"	"HGNC:4284"	"GJB2"	"MONDO:0018781"	"KID syndrome"	"Orphanet:477"	"Orphanet:477"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4284"	"GJB2"	"Orphanet:477"	"KID syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16130"	"2021-09-14"
"GENCC_000110-HGNC_4284-Orphanet_2202-HP_0000006-GENCC_100009"	"HGNC:4284"	"GJB2"	"MONDO:0007852"	"palmoplantar keratoderma-deafness syndrome"	"Orphanet:2202"	"Orphanet:2202"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4284"	"GJB2"	"Orphanet:2202"	"Palmoplantar keratoderma-deafness syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10633135[PMID]_17993581[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16130"	"2021-09-14"
"GENCC_000110-HGNC_4284-Orphanet_494-HP_0000006-GENCC_100009"	"HGNC:4284"	"GJB2"	"MONDO:0007422"	"keratoderma hereditarium mutilans"	"Orphanet:494"	"Orphanet:494"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4284"	"GJB2"	"Orphanet:494"	"Keratoderma hereditarium mutilans"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20854437[PMID]_22960825[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16130"	"2021-09-14"
"GENCC_000110-HGNC_4284-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:4284"	"GJB2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4284"	"GJB2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16130"	"2021-09-14"
"GENCC_000110-HGNC_4284-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:4284"	"GJB2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4284"	"GJB2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16130"	"2021-09-14"
"GENCC_000110-HGNC_4285-Orphanet_317-HP_0000006-GENCC_100009"	"HGNC:4285"	"GJB3"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"Orphanet:317"	"Orphanet:317"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4285"	"GJB3"	"Orphanet:317"	"Erythrokeratodermia variabilis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21564177[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16131"	"2021-09-14"
"GENCC_000110-HGNC_4285-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:4285"	"GJB3"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4285"	"GJB3"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16131"	"2021-09-14"
"GENCC_000110-HGNC_4285-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:4285"	"GJB3"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4285"	"GJB3"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10587579[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16131"	"2021-09-14"
"GENCC_000110-HGNC_4285-Orphanet_139512-HP_0000006-GENCC_100009"	"HGNC:4285"	"GJB3"	"MONDO:0015351"	"neuropathy with hearing impairment"	"Orphanet:139512"	"Orphanet:139512"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4285"	"GJB3"	"Orphanet:139512"	"Neuropathy with hearing impairment"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11309368[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16131"	"2021-09-14"
"GENCC_000110-HGNC_4286-Orphanet_317-HP_0000006-GENCC_100009"	"HGNC:4286"	"GJB4"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"Orphanet:317"	"Orphanet:317"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4286"	"GJB4"	"Orphanet:317"	"Erythrokeratodermia variabilis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23037955[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16132"	"2021-09-14"
"GENCC_000110-HGNC_4288-Orphanet_477-HP_0000006-GENCC_100009"	"HGNC:4288"	"GJB6"	"MONDO:0018781"	"KID syndrome"	"Orphanet:477"	"Orphanet:477"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4288"	"GJB6"	"Orphanet:477"	"KID syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15140211[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16133"	"2021-09-14"
"GENCC_000110-HGNC_4288-Orphanet_189-HP_0000006-GENCC_100009"	"HGNC:4288"	"GJB6"	"MONDO:0007510"	"Clouston syndrome"	"Orphanet:189"	"Orphanet:189"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4288"	"GJB6"	"Orphanet:189"	"Hidrotic ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11017065[PMID]_11874494[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16133"	"2021-09-14"
"GENCC_000110-HGNC_4288-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:4288"	"GJB6"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4288"	"GJB6"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16133"	"2021-09-14"
"GENCC_000110-HGNC_4288-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:4288"	"GJB6"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4288"	"GJB6"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16133"	"2021-09-14"
"GENCC_000110-HGNC_4296-Orphanet_324-HP_0001417-GENCC_100009"	"HGNC:4296"	"GLA"	"MONDO:0010526"	"Fabry disease"	"Orphanet:324"	"Orphanet:324"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4296"	"GLA"	"Orphanet:324"	"Fabry disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16135"	"2021-09-14"
"GENCC_000110-HGNC_4298-Orphanet_79255-HP_0000007-GENCC_100009"	"HGNC:4298"	"GLB1"	"MONDO:0009260"	"GM1 gangliosidosis type 1"	"Orphanet:79255"	"Orphanet:79255"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4298"	"GLB1"	"Orphanet:79255"	"GM1 gangliosidosis type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24156116[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16136"	"2021-09-14"
"GENCC_000110-HGNC_4298-Orphanet_79256-HP_0000007-GENCC_100009"	"HGNC:4298"	"GLB1"	"MONDO:0009261"	"GM1 gangliosidosis type 2"	"Orphanet:79256"	"Orphanet:79256"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4298"	"GLB1"	"Orphanet:79256"	"GM1 gangliosidosis type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24156116[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16136"	"2021-09-14"
"GENCC_000110-HGNC_4298-Orphanet_79257-HP_0000007-GENCC_100009"	"HGNC:4298"	"GLB1"	"MONDO:0009262"	"GM1 gangliosidosis type 3"	"Orphanet:79257"	"Orphanet:79257"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4298"	"GLB1"	"Orphanet:79257"	"GM1 gangliosidosis type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24156116[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16136"	"2021-09-14"
"GENCC_000110-HGNC_4298-Orphanet_309310-HP_0000007-GENCC_100009"	"HGNC:4298"	"GLB1"	"MONDO:0009660"	"mucopolysaccharidosis type 4B"	"Orphanet:309310"	"Orphanet:309310"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4298"	"GLB1"	"Orphanet:309310"	"Mucopolysaccharidosis type 4B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24156116[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16136"	"2021-09-14"
"GENCC_000110-HGNC_4313-Orphanet_289857-HP_0000007-GENCC_100009"	"HGNC:4313"	"GLDC"	"MONDO:0017353"	"neonatal glycine encephalopathy"	"Orphanet:289857"	"Orphanet:289857"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4313"	"GLDC"	"Orphanet:289857"	"Neonatal glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16137"	"2021-09-14"
"GENCC_000110-HGNC_4313-Orphanet_289860-HP_0000007-GENCC_100009"	"HGNC:4313"	"GLDC"	"MONDO:0017354"	"infantile glycine encephalopathy"	"Orphanet:289860"	"Orphanet:289860"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4313"	"GLDC"	"Orphanet:289860"	"Infantile glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16137"	"2021-09-14"
"GENCC_000110-HGNC_4313-Orphanet_289863-HP_0000005-GENCC_100009"	"HGNC:4313"	"GLDC"	"MONDO:0015010"	"atypical glycine encephalopathy"	"Orphanet:289863"	"Orphanet:289863"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:4313"	"GLDC"	"Orphanet:289863"	"Atypical glycine encephalopathy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16137"	"2021-09-14"
"GENCC_000110-HGNC_4319-Orphanet_36-HP_0000007-GENCC_100009"	"HGNC:4319"	"GLI3"	"MONDO:0008708"	"acrocallosal syndrome"	"Orphanet:36"	"Orphanet:36"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4319"	"GLI3"	"Orphanet:36"	"Acrocallosal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23633388[PMID]_12414818[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16139"	"2021-09-14"
"GENCC_000110-HGNC_4319-Orphanet_380-HP_0000006-GENCC_100009"	"HGNC:4319"	"GLI3"	"MONDO:0008287"	"Greig cephalopolysyndactyly syndrome"	"Orphanet:380"	"Orphanet:380"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4319"	"GLI3"	"Orphanet:380"	"Greig cephalopolysyndactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10441342[PMID]_12794692[PMID]_20301619[PMID]_18435847[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16139"	"2021-09-14"
"GENCC_000110-HGNC_4319-Orphanet_672-HP_0000006-GENCC_100009"	"HGNC:4319"	"GLI3"	"MONDO:0007804"	"Pallister-Hall syndrome"	"Orphanet:672"	"Orphanet:672"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4319"	"GLI3"	"Orphanet:672"	"Pallister-Hall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301638[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16139"	"2021-09-14"
"GENCC_000110-HGNC_4319-Orphanet_93322-HP_0000006-GENCC_100009"	"HGNC:4319"	"GLI3"	"MONDO:0010144"	"tibial hemimelia"	"Orphanet:93322"	"Orphanet:93322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4319"	"GLI3"	"Orphanet:93322"	"Tibial hemimelia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26791356[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16139"	"2021-09-14"
"GENCC_000110-HGNC_4319-Orphanet_93334-HP_0000007-GENCC_100009"	"HGNC:4319"	"GLI3"	"MONDO:0019673"	"postaxial polydactyly type A"	"Orphanet:93334"	"Orphanet:93334"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4319"	"GLI3"	"Orphanet:93334"	"Postaxial polydactyly type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26394607[PMID]_22428873[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16139"	"2021-09-14"
"GENCC_000110-HGNC_4319-Orphanet_93338-HP_0000006-GENCC_100009"	"HGNC:4319"	"GLI3"	"MONDO:0008272"	"polysyndactyly 4"	"Orphanet:93338"	"Orphanet:93338"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4319"	"GLI3"	"Orphanet:93338"	"Polysyndactyly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26394607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16139"	"2021-09-14"
"GENCC_000110-HGNC_14373-Orphanet_83454-HP_0000006-GENCC_100009"	"HGNC:14373"	"GLMN"	"MONDO:0007672"	"glomuvenous malformation"	"Orphanet:83454"	"Orphanet:83454"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14373"	"GLMN"	"Orphanet:83454"	"Glomuvenous malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11845407[PMID]_22092580[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16140"	"2021-09-14"
"GENCC_000110-HGNC_4326-Orphanet_3197-HP_0000006-GENCC_100009"	"HGNC:4326"	"GLRA1"	"MONDO:0021022"	"hereditary hyperekplexia"	"Orphanet:3197"	"Orphanet:3197"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4326"	"GLRA1"	"Orphanet:3197"	"Hereditary hyperekplexia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16141"	"2021-09-14"
"GENCC_000110-HGNC_4329-Orphanet_3197-HP_0000006-GENCC_100009"	"HGNC:4329"	"GLRB"	"MONDO:0021022"	"hereditary hyperekplexia"	"Orphanet:3197"	"Orphanet:3197"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4329"	"GLRB"	"Orphanet:3197"	"Hereditary hyperekplexia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16142"	"2021-09-14"
"GENCC_000110-HGNC_4335-Orphanet_35878-HP_0000006-GENCC_100009"	"HGNC:4335"	"GLUD1"	"MONDO:0011717"	"hyperinsulinism-hyperammonemia syndrome"	"Orphanet:35878"	"Orphanet:35878"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4335"	"GLUD1"	"Orphanet:35878"	"Hyperinsulinism-hyperammonemia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9571255[PMID]_20936362[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16145"	"2021-09-14"
"GENCC_000110-HGNC_4392-Orphanet_2762-HP_0000006-GENCC_100009"	"HGNC:4392"	"GNAS"	"MONDO:0008153"	"progressive osseous heteroplasia"	"Orphanet:2762"	"Orphanet:2762"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4392"	"GNAS"	"Orphanet:2762"	"Progressive osseous heteroplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14723729[PMID]_20427508[PMID]_17321228[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16147"	"2021-09-14"
"GENCC_000110-HGNC_4392-Orphanet_79443-HP_0000006-GENCC_100009"	"HGNC:4392"	"GNAS"	"MONDO:0007078"	"pseudohypoparathyroidism type 1A"	"Orphanet:79443"	"Orphanet:79443"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4392"	"GNAS"	"Orphanet:79443"	"Pseudohypoparathyroidism type 1A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16147"	"2021-09-14"
"GENCC_000110-HGNC_4392-Orphanet_79444-HP_0000006-GENCC_100009"	"HGNC:4392"	"GNAS"	"MONDO:0012911"	"pseudohypoparathyroidism type 1C"	"Orphanet:79444"	"Orphanet:79444"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4392"	"GNAS"	"Orphanet:79444"	"Pseudohypoparathyroidism type 1C"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16147"	"2021-09-14"
"GENCC_000110-HGNC_4392-Orphanet_79445-HP_0000006-GENCC_100009"	"HGNC:4392"	"GNAS"	"MONDO:0012912"	"pseudopseudohypoparathyroidism"	"Orphanet:79445"	"Orphanet:79445"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4392"	"GNAS"	"Orphanet:79445"	"Pseudopseudohypoparathyroidism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16147"	"2021-09-14"
"GENCC_000110-HGNC_4392-Orphanet_94089-HP_0000006-GENCC_100009"	"HGNC:4392"	"GNAS"	"MONDO:0011301"	"pseudohypoparathyroidism type 1B"	"Orphanet:94089"	"Orphanet:94089"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4392"	"GNAS"	"Orphanet:94089"	"Pseudohypoparathyroidism type 1B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16147"	"2021-09-14"
"GENCC_000110-HGNC_4393-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:4393"	"GNAT1"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4393"	"GNAT1"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8673138[PMID]_22190596[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16148"	"2021-09-14"
"GENCC_000110-HGNC_4394-Orphanet_1871-HP_0000006-GENCC_100009"	"HGNC:4394"	"GNAT2"	"MONDO:0000455"	"cone dystrophy"	"Orphanet:1871"	"Orphanet:1871"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4394"	"GNAT2"	"Orphanet:1871"	"Progressive cone dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14609822[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16149"	"2021-09-14"
"GENCC_000110-HGNC_4394-Orphanet_49382-HP_0000007-GENCC_100009"	"HGNC:4394"	"GNAT2"	"MONDO:0018852"	"achromatopsia"	"Orphanet:49382"	"Orphanet:49382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4394"	"GNAT2"	"Orphanet:49382"	"Achromatopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12077706[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16149"	"2021-09-14"
"GENCC_000110-HGNC_23657-Orphanet_3166-HP_0000006-GENCC_100009"	"HGNC:23657"	"GNE"	"MONDO:0010028"	"sialuria"	"Orphanet:3166"	"Orphanet:3166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23657"	"GNE"	"Orphanet:3166"	"Sialuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16150"	"2021-09-14"
"GENCC_000110-HGNC_23657-Orphanet_602-HP_0000006-GENCC_100009"	"HGNC:23657"	"GNE"	"MONDO:0011603"	"GNE myopathy"	"Orphanet:602"	"Orphanet:602"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23657"	"GNE"	"Orphanet:602"	"GNE myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11916006[PMID]_20301439[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16150"	"2021-09-14"
"GENCC_000110-HGNC_23657-Orphanet_438207-HP_0000007-GENCC_100009"	"HGNC:23657"	"GNE"	"MONDO:0014518"	"platelet-type bleeding disorder 19"	"Orphanet:438207"	"Orphanet:438207"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23657"	"GNE"	"Orphanet:438207"	"Severe autosomal recessive macrothrombocytopenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30171045[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16150"	"2021-09-14"
"GENCC_000110-HGNC_29670-Orphanet_576-HP_0000007-GENCC_100009"	"HGNC:29670"	"GNPTAB"	"MONDO:0009650"	"mucolipidosis type II"	"Orphanet:576"	"Orphanet:576"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29670"	"GNPTAB"	"Orphanet:576"	"Mucolipidosis type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18425436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16152"	"2021-09-14"
"GENCC_000110-HGNC_29670-Orphanet_423461-HP_0000007-GENCC_100009"	"HGNC:29670"	"GNPTAB"	"MONDO:0018931"	"mucolipidosis type III, alpha/beta"	"Orphanet:423461"	"Orphanet:423461"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29670"	"GNPTAB"	"Orphanet:423461"	"Mucolipidosis type III alpha/beta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18425436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16152"	"2021-09-14"
"GENCC_000110-HGNC_23026-Orphanet_423470-HP_0000007-GENCC_100009"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"Orphanet:423470"	"Orphanet:423470"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23026"	"GNPTG"	"Orphanet:423470"	"Mucolipidosis type III gamma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20034096[PMID]_19708128[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16153"	"2021-09-14"
"GENCC_000110-HGNC_4421-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:4421"	"GNRHR"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4421"	"GNRHR"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22918878[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16154"	"2021-09-14"
"GENCC_000110-HGNC_4422-Orphanet_79272-HP_0000007-GENCC_100009"	"HGNC:4422"	"GNS"	"MONDO:0009658"	"mucopolysaccharidosis type 3D"	"Orphanet:79272"	"Orphanet:79272"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4422"	"GNS"	"Orphanet:79272"	"Sanfilippo syndrome type D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12573255[PMID]_17998446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16155"	"2021-09-14"
"GENCC_000110-HGNC_4439-Orphanet_274-HP_0000006-GENCC_100009"	"HGNC:4439"	"GP1BA"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"Orphanet:274"	"Orphanet:274"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4439"	"GP1BA"	"Orphanet:274"	"Bernard-Soulier syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22886561[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16157"	"2021-09-14"
"GENCC_000110-HGNC_4439-Orphanet_52530-HP_0000006-GENCC_100009"	"HGNC:4439"	"GP1BA"	"MONDO:0008332"	"platelet-type von Willebrand disease"	"Orphanet:52530"	"Orphanet:52530"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4439"	"GP1BA"	"Orphanet:52530"	"Pseudo-von Willebrand disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"2052556[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16157"	"2021-09-14"
"GENCC_000110-HGNC_4439-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:4439"	"GP1BA"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4439"	"GP1BA"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21933849[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16157"	"2021-09-14"
"GENCC_000110-HGNC_4440-Orphanet_274-HP_0000006-GENCC_100009"	"HGNC:4440"	"GP1BB"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"Orphanet:274"	"Orphanet:274"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4440"	"GP1BB"	"Orphanet:274"	"Bernard-Soulier syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22886561[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16158"	"2021-09-14"
"GENCC_000110-HGNC_4440-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:4440"	"GP1BB"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4440"	"GP1BB"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28064200[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16158"	"2021-09-14"
"GENCC_000110-HGNC_4444-Orphanet_274-HP_0000006-GENCC_100009"	"HGNC:4444"	"GP9"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"Orphanet:274"	"Orphanet:274"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4444"	"GP9"	"Orphanet:274"	"Bernard-Soulier syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22886561[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16159"	"2021-09-14"
"GENCC_000110-HGNC_4451-Orphanet_373-HP_0001417-GENCC_100009"	"HGNC:4451"	"GPC3"	"MONDO:0010731"	"Simpson-Golabi-Behmel syndrome"	"Orphanet:373"	"Orphanet:373"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4451"	"GPC3"	"Orphanet:373"	"Simpson-Golabi-Behmel syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10814714[PMID]_20301398[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16160"	"2021-09-14"
"GENCC_000110-HGNC_15465-Orphanet_3197-HP_0000006-GENCC_100009"	"HGNC:15465"	"GPHN"	"MONDO:0021022"	"hereditary hyperekplexia"	"Orphanet:3197"	"Orphanet:3197"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15465"	"GPHN"	"Orphanet:3197"	"Hereditary hyperekplexia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16161"	"2021-09-14"
"GENCC_000110-HGNC_4458-Orphanet_712-HP_0000007-GENCC_100009"	"HGNC:4458"	"GPI"	"MONDO:0013275"	"hemolytic anemia due to glucophosphate isomerase deficiency"	"Orphanet:712"	"Orphanet:712"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4458"	"GPI"	"Orphanet:712"	"Hemolytic anemia due to glucophosphate isomerase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9446754[PMID]_22782259[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16162"	"2021-09-14"
"GENCC_000110-HGNC_20145-Orphanet_54-HP_0001417-GENCC_100009"	"HGNC:20145"	"GPR143"	"MONDO:0021019"	"X-linked recessive ocular albinism"	"Orphanet:54"	"Orphanet:54"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:20145"	"GPR143"	"Orphanet:54"	"X-linked recessive ocular albinism"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16163"	"2021-09-14"
"GENCC_000110-HGNC_17416-Orphanet_231178-HP_0000007-GENCC_100009"	"HGNC:17416"	"ADGRV1"	"MONDO:0016484"	"Usher syndrome type 2"	"Orphanet:231178"	"Orphanet:231178"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17416"	"ADGRV1"	"Orphanet:231178"	"Usher syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16165"	"2021-09-14"
"GENCC_000110-HGNC_4570-Orphanet_93599-HP_0000007-GENCC_100009"	"HGNC:4570"	"GRHPR"	"MONDO:0009824"	"primary hyperoxaluria type 2"	"Orphanet:93599"	"Orphanet:93599"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4570"	"GRHPR"	"Orphanet:93599"	"Primary hyperoxaluria type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16166"	"2021-09-14"
"GENCC_000110-HGNC_4573-Orphanet_364028-HP_0001417-GENCC_100009"	"HGNC:4573"	"GRIA3"	"MONDO:0018222"	"X-linked intellectual disability due to GRIA3 anomalies"	"Orphanet:364028"	"Orphanet:364028"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4573"	"GRIA3"	"Orphanet:364028"	"X-linked intellectual disability due to GRIA3 mutations"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17989220[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16167"	"2021-09-14"
"GENCC_000110-HGNC_10013-Orphanet_75382-HP_0000007-GENCC_100009"	"HGNC:10013"	"GRK1"	"MONDO:0019152"	"Oguchi disease"	"Orphanet:75382"	"Orphanet:75382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10013"	"GRK1"	"Orphanet:75382"	"Oguchi disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9020843[PMID]_19753316[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16168"	"2021-09-14"
"GENCC_000110-HGNC_4598-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:4598"	"GRM6"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4598"	"GRM6"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17405131[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16169"	"2021-09-14"
"GENCC_000110-HGNC_4620-Orphanet_85448-HP_0000006-GENCC_100009"	"HGNC:4620"	"GSN"	"MONDO:0007097"	"Finnish type amyloidosis"	"Orphanet:85448"	"Orphanet:85448"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4620"	"GSN"	"Orphanet:85448"	"AGel amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16258946[PMID]_22068858[PMID]_22622774[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16170"	"2021-09-14"
"GENCC_000110-HGNC_4623-Orphanet_90030-HP_0000007-GENCC_100009"	"HGNC:4623"	"GSR"	"MONDO:0019531"	"hemolytic anemia due to glutathione reductase deficiency"	"Orphanet:90030"	"Orphanet:90030"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4623"	"GSR"	"Orphanet:90030"	"Hemolytic anemia due to glutathione reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17185460[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16171"	"2021-09-14"
"GENCC_000110-HGNC_21157-Orphanet_33364-HP_0000007-GENCC_100009"	"HGNC:21157"	"GTF2H5"	"MONDO:0018053"	"trichothiodystrophy"	"Orphanet:33364"	"Orphanet:33364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21157"	"GTF2H5"	"Orphanet:33364"	"Trichothiodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12393803[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16173"	"2021-09-14"
"GENCC_000110-HGNC_4678-Orphanet_1871-HP_0000006-GENCC_100009"	"HGNC:4678"	"GUCA1A"	"MONDO:0000455"	"cone dystrophy"	"Orphanet:1871"	"Orphanet:1871"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4678"	"GUCA1A"	"Orphanet:1871"	"Progressive cone dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9425234[PMID]_15735604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16177"	"2021-09-14"
"GENCC_000110-HGNC_4678-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:4678"	"GUCA1A"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4678"	"GUCA1A"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23428504[PMID]_26992781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16177"	"2021-09-14"
"GENCC_000110-HGNC_4678-Orphanet_75377-HP_0000006-GENCC_100009"	"HGNC:4678"	"GUCA1A"	"MONDO:0008982"	"central areolar choroidal dystrophy"	"Orphanet:75377"	"Orphanet:75377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4678"	"GUCA1A"	"Orphanet:75377"	"Central areolar choroidal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28125083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16177"	"2021-09-14"
"GENCC_000110-HGNC_4689-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:4689"	"GUCY2D"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4689"	"GUCY2D"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20517349[PMID]_26992781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16178"	"2021-09-14"
"GENCC_000110-HGNC_4689-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:4689"	"GUCY2D"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4689"	"GUCY2D"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16178"	"2021-09-14"
"GENCC_000110-HGNC_4689-Orphanet_75377-HP_0000006-GENCC_100009"	"HGNC:4689"	"GUCY2D"	"MONDO:0008982"	"central areolar choroidal dystrophy"	"Orphanet:75377"	"Orphanet:75377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4689"	"GUCY2D"	"Orphanet:75377"	"Central areolar choroidal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22695961[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16178"	"2021-09-14"
"GENCC_000110-HGNC_4696-Orphanet_584-HP_0000007-GENCC_100009"	"HGNC:4696"	"GUSB"	"MONDO:0009662"	"mucopolysaccharidosis type 7"	"Orphanet:584"	"Orphanet:584"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4696"	"GUSB"	"Orphanet:584"	"Mucopolysaccharidosis type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19224584[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16179"	"2021-09-14"
"GENCC_000110-HGNC_4707-Orphanet_2089-HP_0000007-GENCC_100009"	"HGNC:4707"	"GYS2"	"MONDO:0009414"	"glycogen storage disorder due to hepatic glycogen synthase deficiency"	"Orphanet:2089"	"Orphanet:2089"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4707"	"GYS2"	"Orphanet:2089"	"Glycogen storage disease due to hepatic glycogen synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16180"	"2021-09-14"
"GENCC_000110-HGNC_4799-Orphanet_71212-HP_0000007-GENCC_100009"	"HGNC:4799"	"HADH"	"MONDO:0009278"	"hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"	"Orphanet:71212"	"Orphanet:71212"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4799"	"HADH"	"Orphanet:71212"	"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16181"	"2021-09-14"
"GENCC_000110-HGNC_4806-Orphanet_2157-HP_0000007-GENCC_100009"	"HGNC:4806"	"HAL"	"MONDO:0009345"	"histidinemia"	"Orphanet:2157"	"Orphanet:2157"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4806"	"HAL"	"Orphanet:2157"	"Histidinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15806399[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16182"	"2021-09-14"
"GENCC_000110-HGNC_15598-Orphanet_79230-HP_0000007-GENCC_100009"	"HGNC:15598"	"HAMP"	"MONDO:0019257"	"hemochromatosis type 2"	"Orphanet:79230"	"Orphanet:79230"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15598"	"HAMP"	"Orphanet:79230"	"Hemochromatosis type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16183"	"2021-09-14"
"GENCC_000110-HGNC_16915-Orphanet_99749-HP_0000007-GENCC_100009"	"HGNC:16915"	"HAX1"	"MONDO:0012548"	"Kostmann syndrome"	"Orphanet:99749"	"Orphanet:99749"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16915"	"HAX1"	"Orphanet:99749"	"Kostmann syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17187068[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16184"	"2021-09-14"
"GENCC_000110-HGNC_4824-Orphanet_93616-HP_0000007-GENCC_100009"	"HGNC:4824"	"HBA2"	"MONDO:0013512"	"hemoglobin H disease"	"Orphanet:93616"	"Orphanet:93616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4824"	"HBA2"	"Orphanet:93616"	"Hemoglobin H disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16185"	"2021-09-14"
"GENCC_000110-HGNC_4824-Orphanet_163596-HP_0000007-GENCC_100009"	"HGNC:4824"	"HBA2"	"MONDO:0015579"	"Hb Bart's hydrops fetalis"	"Orphanet:163596"	"Orphanet:163596"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4824"	"HBA2"	"Orphanet:163596"	"Hb Bart's hydrops fetalis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16185"	"2021-09-14"
"GENCC_000110-HGNC_4824-Orphanet_330041-HP_0000006-GENCC_100009"	"HGNC:4824"	"HBA2"	"MONDO:0018023"	"hemoglobin M disease"	"Orphanet:330041"	"Orphanet:330041"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4824"	"HBA2"	"Orphanet:330041"	"Hemoglobin M disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8416301[PMID]_25031065[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16185"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_232-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0011382"	"sickle cell anemia"	"Orphanet:232"	"Orphanet:232"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:232"	"Sickle cell anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301551[PMID]_24361300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_2132-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016242"	"hemoglobin C disease"	"Orphanet:2132"	"Orphanet:2132"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:2132"	"Hemoglobin C disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21886666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_2133-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016243"	"hemoglobin E disease"	"Orphanet:2133"	"Orphanet:2133"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:2133"	"Hemoglobin E disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21886666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_46532-HP_0000006-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0018749"	"hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	"Orphanet:46532"	"Orphanet:46532"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:46532"	"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19050890[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_231214-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016486"	"beta-thalassemia major"	"Orphanet:231214"	"Orphanet:231214"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:231214"	"Beta-thalassemia major"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21886666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_231222-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016487"	"beta-thalassemia intermedia"	"Orphanet:231222"	"Orphanet:231222"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:231222"	"Beta-thalassemia intermedia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21886666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_231226-HP_0000006-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0011381"	"dominant beta-thalassemia"	"Orphanet:231226"	"Orphanet:231226"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:231226"	"Dominant beta-thalassemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21886666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_231237-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016489"	"delta-beta-thalassemia"	"Orphanet:231237"	"Orphanet:231237"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:231237"	"Delta-beta-thalassemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18932066[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_231242-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016490"	"hemoglobin C-beta-thalassemia syndrome"	"Orphanet:231242"	"Orphanet:231242"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:231242"	"Hemoglobin C-beta-thalassemia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21886666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_231249-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016491"	"hemoglobin E-beta-thalassemia syndrome"	"Orphanet:231249"	"Orphanet:231249"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:231249"	"Hemoglobin E-beta-thalassemia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21886666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_251359-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016668"	"sickle cell-beta-thalassemia disease syndrome"	"Orphanet:251359"	"Orphanet:251359"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:251359"	"Sickle cell-beta-thalassemia disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_251365-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016669"	"sickle cell-hemoglobin c disease syndrome"	"Orphanet:251365"	"Orphanet:251365"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:251365"	"Sickle cell-hemoglobin C disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_251370-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016670"	"sickle cell-hemoglobin d disease syndrome"	"Orphanet:251370"	"Orphanet:251370"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:251370"	"Sickle cell-hemoglobin D disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_251375-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016671"	"sickle cell-hemoglobin E disease syndrome"	"Orphanet:251375"	"Orphanet:251375"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:251375"	"Sickle cell-hemoglobin E disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_251380-HP_0000007-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0016672"	"hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	"Orphanet:251380"	"Orphanet:251380"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:251380"	"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4827-Orphanet_330041-HP_0000006-GENCC_100009"	"HGNC:4827"	"HBB"	"MONDO:0018023"	"hemoglobin M disease"	"Orphanet:330041"	"Orphanet:330041"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4827"	"HBB"	"Orphanet:330041"	"Hemoglobin M disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8416301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16186"	"2021-09-14"
"GENCC_000110-HGNC_4837-Orphanet_2556-HP_0001417-GENCC_100009"	"HGNC:4837"	"HCCS"	"MONDO:0010672"	"linear skin defects with multiple congenital anomalies"	"Orphanet:2556"	"Orphanet:2556"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4837"	"HCCS"	"Orphanet:2556"	"Microphthalmia with linear skin defects syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17033964[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16187"	"2021-09-14"
"GENCC_000110-HGNC_16882-Orphanet_166282-HP_0000006-GENCC_100009"	"HGNC:16882"	"HCN4"	"MONDO:0012061"	"familial sick sinus syndrome"	"Orphanet:166282"	"Orphanet:166282"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16882"	"HCN4"	"Orphanet:166282"	"Familial sick sinus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16188"	"2021-09-14"
"GENCC_000110-HGNC_4851-Orphanet_399-HP_0000006-GENCC_100009"	"HGNC:4851"	"HTT"	"MONDO:0007739"	"Huntington disease"	"Orphanet:399"	"Orphanet:399"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4851"	"HTT"	"Orphanet:399"	"Huntington disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301482[PMID]_21566141[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16190"	"2021-09-14"
"GENCC_000110-HGNC_4851-Orphanet_248111-HP_0000006-GENCC_100009"	"HGNC:4851"	"HTT"	"MONDO:0016621"	"juvenile Huntington disease"	"Orphanet:248111"	"Orphanet:248111"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4851"	"HTT"	"Orphanet:248111"	"Juvenile Huntington disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17181545[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16190"	"2021-09-14"
"GENCC_000110-HGNC_4877-Orphanet_3157-HP_0000006-GENCC_100009"	"HGNC:4877"	"HESX1"	"MONDO:0008428"	"septooptic dysplasia"	"Orphanet:3157"	"Orphanet:3157"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4877"	"HESX1"	"Orphanet:3157"	"Septo-optic dysplasia spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16192"	"2021-09-14"
"GENCC_000110-HGNC_4877-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:4877"	"HESX1"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4877"	"HESX1"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23465708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16192"	"2021-09-14"
"GENCC_000110-HGNC_4877-Orphanet_95494-HP_0000006-GENCC_100009"	"HGNC:4877"	"HESX1"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"Orphanet:95494"	"Orphanet:95494"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4877"	"HESX1"	"Orphanet:95494"	"Combined pituitary hormone deficiencies, genetic forms"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14561704[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16192"	"2021-09-14"
"GENCC_000110-HGNC_4877-Orphanet_95496-HP_0000006-GENCC_100009"	"HGNC:4877"	"HESX1"	"MONDO:0019828"	"pituitary stalk interruption syndrome"	"Orphanet:95496"	"Orphanet:95496"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4877"	"HESX1"	"Orphanet:95496"	"Pituitary stalk interruption syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21270112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16192"	"2021-09-14"
"GENCC_000110-HGNC_4877-Orphanet_226307-HP_0000006-GENCC_100009"	"HGNC:4877"	"HESX1"	"MONDO:0016411"	"hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"Orphanet:226307"	"Orphanet:226307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4877"	"HESX1"	"Orphanet:226307"	"Hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_22851492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16192"	"2021-09-14"
"GENCC_000110-HGNC_4892-Orphanet_56-HP_0000007-GENCC_100009"	"HGNC:4892"	"HGD"	"MONDO:0008753"	"alkaptonuria"	"Orphanet:56"	"Orphanet:56"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4892"	"HGD"	"Orphanet:56"	"Alkaptonuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301627[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16196"	"2021-09-14"
"GENCC_000110-HGNC_26527-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:26527"	"HGSNAT"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26527"	"HGSNAT"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25859010[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16197"	"2021-09-14"
"GENCC_000110-HGNC_26527-Orphanet_79271-HP_0000007-GENCC_100009"	"HGNC:26527"	"HGSNAT"	"MONDO:0009657"	"mucopolysaccharidosis type 3C"	"Orphanet:79271"	"Orphanet:79271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26527"	"HGSNAT"	"Orphanet:79271"	"Sanfilippo syndrome type C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17033958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16197"	"2021-09-14"
"GENCC_000110-HGNC_4922-Orphanet_90031-HP_0000007-GENCC_100009"	"HGNC:4922"	"HK1"	"MONDO:0009340"	"non-spherocytic hemolytic anemia due to hexokinase deficiency"	"Orphanet:90031"	"Orphanet:90031"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4922"	"HK1"	"Orphanet:90031"	"Non-spherocytic hemolytic anemia due to hexokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12393545[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16199"	"2021-09-14"
"GENCC_000110-HGNC_4922-Orphanet_99953-HP_0000007-GENCC_100009"	"HGNC:4922"	"HK1"	"MONDO:0011534"	"Charcot-Marie-Tooth disease type 4G"	"Orphanet:99953"	"Orphanet:99953"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4922"	"HK1"	"Orphanet:99953"	"Charcot-Marie-Tooth disease type 4G"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19536174[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16199"	"2021-09-14"
"GENCC_000110-HGNC_4976-Orphanet_79242-HP_0000007-GENCC_100009"	"HGNC:4976"	"HLCS"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"Orphanet:79242"	"Orphanet:79242"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4976"	"HLCS"	"Orphanet:79242"	"Holocarboxylase synthetase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16134170[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16203"	"2021-09-14"
"GENCC_000110-HGNC_4982-Orphanet_79276-HP_0000006-GENCC_100009"	"HGNC:4982"	"HMBS"	"MONDO:0008294"	"acute intermittent porphyria"	"Orphanet:79276"	"Orphanet:79276"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4982"	"HMBS"	"Orphanet:79276"	"Acute intermittent porphyria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301372[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16205"	"2021-09-14"
"GENCC_000110-HGNC_5005-Orphanet_20-HP_0000007-GENCC_100009"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"Orphanet:20"	"Orphanet:20"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5005"	"HMGCL"	"Orphanet:20"	"3-hydroxy-3-methylglutaric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19177531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16207"	"2021-09-14"
"GENCC_000110-HGNC_5008-Orphanet_35701-HP_0000007-GENCC_100009"	"HGNC:5008"	"HMGCS2"	"MONDO:0011614"	"3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	"Orphanet:35701"	"Orphanet:35701"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5008"	"HMGCS2"	"Orphanet:35701"	"3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11479731[PMID]_23751782[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16209"	"2021-09-14"
"GENCC_000110-HGNC_5024-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:5024"	"HNF4A"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5024"	"HNF4A"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16210"	"2021-09-14"
"GENCC_000110-HGNC_5024-Orphanet_263455-HP_0000006-GENCC_100009"	"HGNC:5024"	"HNF4A"	"MONDO:0016988"	"hyperinsulinism due to HNF4A deficiency"	"Orphanet:263455"	"Orphanet:263455"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5024"	"HNF4A"	"Orphanet:263455"	"Hyperinsulinism due to HNF4A deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20931292[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16210"	"2021-09-14"
"GENCC_000110-HGNC_5102-Orphanet_2438-HP_0000006-GENCC_100009"	"HGNC:5102"	"HOXA13"	"MONDO:0007698"	"hand-foot-genital syndrome"	"Orphanet:2438"	"Orphanet:2438"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5102"	"HOXA13"	"Orphanet:2438"	"Hand-foot-genital syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301596[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16211"	"2021-09-14"
"GENCC_000110-HGNC_5102-Orphanet_2957-HP_0000006-GENCC_100009"	"HGNC:5102"	"HOXA13"	"MONDO:0008301"	"Guttmacher syndrome"	"Orphanet:2957"	"Orphanet:2957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5102"	"HOXA13"	"Orphanet:2957"	"Guttmacher syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11968094[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16211"	"2021-09-14"
"GENCC_000110-HGNC_5136-Orphanet_93387-HP_0000006-GENCC_100009"	"HGNC:5136"	"HOXD13"	"MONDO:0019677"	"brachydactyly type E"	"Orphanet:93387"	"Orphanet:93387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5136"	"HOXD13"	"Orphanet:93387"	"Brachydactyly type E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12649808[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16212"	"2021-09-14"
"GENCC_000110-HGNC_5136-Orphanet_93406-HP_0000006-GENCC_100009"	"HGNC:5136"	"HOXD13"	"MONDO:0008516"	"syndactyly type 5"	"Orphanet:93406"	"Orphanet:93406"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5136"	"HOXD13"	"Orphanet:93406"	"Syndactyly type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17236141[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16212"	"2021-09-14"
"GENCC_000110-HGNC_5136-Orphanet_93409-HP_0000006-GENCC_100009"	"HGNC:5136"	"HOXD13"	"MONDO:0012544"	"brachydactyly-syndactyly syndrome"	"Orphanet:93409"	"Orphanet:93409"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5136"	"HOXD13"	"Orphanet:93409"	"Brachydactyly-syndactyly, Zhao type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17236141[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16212"	"2021-09-14"
"GENCC_000110-HGNC_5136-Orphanet_295195-HP_0000006-GENCC_100009"	"HGNC:5136"	"HOXD13"	"MONDO:0008513"	"synpolydactyly type 1"	"Orphanet:295195"	"Orphanet:295195"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5136"	"HOXD13"	"Orphanet:295195"	"Synpolydactyly type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22448207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16212"	"2021-09-14"
"GENCC_000110-HGNC_5147-Orphanet_69723-HP_0000007-GENCC_100009"	"HGNC:5147"	"HPD"	"MONDO:0010162"	"tyrosinemia type III"	"Orphanet:69723"	"Orphanet:69723"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5147"	"HPD"	"Orphanet:69723"	"Tyrosinemia type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10942115[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16213"	"2021-09-14"
"GENCC_000110-HGNC_5157-Orphanet_510-HP_0001417-GENCC_100009"	"HGNC:5157"	"HPRT1"	"MONDO:0010298"	"Lesch-Nyhan syndrome"	"Orphanet:510"	"Orphanet:510"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5157"	"HPRT1"	"Orphanet:510"	"Lesch-Nyhan syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16214"	"2021-09-14"
"GENCC_000110-HGNC_5157-Orphanet_79233-HP_0001417-GENCC_100009"	"HGNC:5157"	"HPRT1"	"MONDO:0010299"	"hypoxanthine guanine phosphoribosyltransferase partial deficiency"	"Orphanet:79233"	"Orphanet:79233"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5157"	"HPRT1"	"Orphanet:79233"	"Hypoxanthine guanine phosphoribosyltransferase partial deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10657589[PMID]_26073243[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16214"	"2021-09-14"
"GENCC_000110-HGNC_5163-Orphanet_231500-HP_0000007-GENCC_100009"	"HGNC:5163"	"HPS1"	"MONDO:0016501"	"Hermansky-Pudlak syndrome with pulmonary fibrosis"	"Orphanet:231500"	"Orphanet:231500"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5163"	"HPS1"	"Orphanet:231500"	"Hermansky-Pudlak syndrome with pulmonary fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16215"	"2021-09-14"
"GENCC_000110-HGNC_15597-Orphanet_231512-HP_0000007-GENCC_100009"	"HGNC:15597"	"HPS3"	"MONDO:0016502"	"Hermansky-Pudlak syndrome without pulmonary fibrosis"	"Orphanet:231512"	"Orphanet:231512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15597"	"HPS3"	"Orphanet:231512"	"Hermansky-Pudlak syndrome without pulmonary fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16216"	"2021-09-14"
"GENCC_000110-HGNC_15844-Orphanet_231500-HP_0000007-GENCC_100009"	"HGNC:15844"	"HPS4"	"MONDO:0016501"	"Hermansky-Pudlak syndrome with pulmonary fibrosis"	"Orphanet:231500"	"Orphanet:231500"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15844"	"HPS4"	"Orphanet:231500"	"Hermansky-Pudlak syndrome with pulmonary fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16217"	"2021-09-14"
"GENCC_000110-HGNC_17022-Orphanet_231512-HP_0000007-GENCC_100009"	"HGNC:17022"	"HPS5"	"MONDO:0016502"	"Hermansky-Pudlak syndrome without pulmonary fibrosis"	"Orphanet:231512"	"Orphanet:231512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17022"	"HPS5"	"Orphanet:231512"	"Hermansky-Pudlak syndrome without pulmonary fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16218"	"2021-09-14"
"GENCC_000110-HGNC_18817-Orphanet_231512-HP_0000007-GENCC_100009"	"HGNC:18817"	"HPS6"	"MONDO:0016502"	"Hermansky-Pudlak syndrome without pulmonary fibrosis"	"Orphanet:231512"	"Orphanet:231512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18817"	"HPS6"	"Orphanet:231512"	"Hermansky-Pudlak syndrome without pulmonary fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16219"	"2021-09-14"
"GENCC_000110-HGNC_5172-Orphanet_701-HP_0000007-GENCC_100009"	"HGNC:5172"	"HR"	"MONDO:0008757"	"alopecia universalis congenita"	"Orphanet:701"	"Orphanet:701"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5172"	"HR"	"Orphanet:701"	"Alopecia universalis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9445480[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16220"	"2021-09-14"
"GENCC_000110-HGNC_5172-Orphanet_444-HP_0000006-GENCC_100009"	"HGNC:5172"	"HR"	"MONDO:0018631"	"Marie Unna hereditary hypotrichosis"	"Orphanet:444"	"Orphanet:444"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5172"	"HR"	"Orphanet:444"	"Marie Unna hereditary hypotrichosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19122663[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16220"	"2021-09-14"
"GENCC_000110-HGNC_5172-Orphanet_86819-HP_0000007-GENCC_100009"	"HGNC:5172"	"HR"	"MONDO:0008847"	"atrichia with papular lesions"	"Orphanet:86819"	"Orphanet:86819"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5172"	"HR"	"Orphanet:86819"	"Atrichia with papular lesions"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18709303[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16220"	"2021-09-14"
"GENCC_000110-HGNC_5173-Orphanet_3071-HP_0000006-GENCC_100009"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"Orphanet:3071"	"Orphanet:3071"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5173"	"HRAS"	"Orphanet:3071"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301680[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16221"	"2021-09-14"
"GENCC_000110-HGNC_5209-Orphanet_320-HP_0000007-GENCC_100009"	"HGNC:5209"	"HSD11B2"	"MONDO:0009025"	"apparent mineralocorticoid excess"	"Orphanet:320"	"Orphanet:320"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5209"	"HSD11B2"	"Orphanet:320"	"Apparent mineralocorticoid excess"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10523339[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16222"	"2021-09-14"
"GENCC_000110-HGNC_4800-Orphanet_85295-HP_0001417-GENCC_100009"	"HGNC:4800"	"HSD17B10"	"MONDO:0010272"	"syndromic X-linked intellectual disability type 10"	"Orphanet:85295"	"Orphanet:85295"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4800"	"HSD17B10"	"Orphanet:85295"	"HSD10 disease, atypical type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22127393[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16223"	"2021-09-14"
"GENCC_000110-HGNC_4800-Orphanet_391428-HP_0001417-GENCC_100009"	"HGNC:4800"	"HSD17B10"	"MONDO:0018322"	"HSD10 disease, infantile type"	"Orphanet:391428"	"Orphanet:391428"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4800"	"HSD17B10"	"Orphanet:391428"	"HSD10 disease, infantile type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22127393[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16223"	"2021-09-14"
"GENCC_000110-HGNC_4800-Orphanet_391457-HP_0001417-GENCC_100009"	"HGNC:4800"	"HSD17B10"	"MONDO:0018323"	"HSD10 disease, neonatal type"	"Orphanet:391457"	"Orphanet:391457"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4800"	"HSD17B10"	"Orphanet:391457"	"HSD10 disease, neonatal type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22127393[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16223"	"2021-09-14"
"GENCC_000110-HGNC_5212-Orphanet_752-HP_0000007-GENCC_100009"	"HGNC:5212"	"HSD17B3"	"MONDO:0009916"	"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"	"Orphanet:752"	"Orphanet:752"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5212"	"HSD17B3"	"Orphanet:752"	"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16224"	"2021-09-14"
"GENCC_000110-HGNC_5213-Orphanet_2855-HP_0000007-GENCC_100009"	"HGNC:5213"	"HSD17B4"	"MONDO:0017312"	"Perrault syndrome"	"Orphanet:2855"	"Orphanet:2855"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5213"	"HSD17B4"	"Orphanet:2855"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20673864[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16225"	"2021-09-14"
"GENCC_000110-HGNC_5218-Orphanet_90791-HP_0000007-GENCC_100009"	"HGNC:5218"	"HSD3B2"	"MONDO:0008727"	"congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"	"Orphanet:90791"	"Orphanet:90791"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5218"	"HSD3B2"	"Orphanet:90791"	"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16226"	"2021-09-14"
"GENCC_000110-HGNC_18324-Orphanet_79301-HP_0000007-GENCC_100009"	"HGNC:18324"	"HSD3B7"	"MONDO:0011906"	"congenital bile acid synthesis defect 1"	"Orphanet:79301"	"Orphanet:79301"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18324"	"HSD3B7"	"Orphanet:79301"	"Congenital bile acid synthesis defect type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12679481[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16227"	"2021-09-14"
"GENCC_000110-HGNC_5227-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:5227"	"HSF4"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5227"	"HSF4"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15277496[PMID]_16876512[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16228"	"2021-09-14"
"GENCC_000110-HGNC_5227-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:5227"	"HSF4"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5227"	"HSF4"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12089525[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16228"	"2021-09-14"
"GENCC_000110-HGNC_5246-Orphanet_99940-HP_0000006-GENCC_100009"	"HGNC:5246"	"HSPB1"	"MONDO:0011687"	"Charcot-Marie-Tooth disease axonal type 2F"	"Orphanet:99940"	"Orphanet:99940"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5246"	"HSPB1"	"Orphanet:99940"	"Autosomal dominant Charcot-Marie-Tooth disease type 2F"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16230"	"2021-09-14"
"GENCC_000110-HGNC_5246-Orphanet_139525-HP_0000006-GENCC_100009"	"HGNC:5246"	"HSPB1"	"MONDO:0015352"	"distal hereditary motor neuropathy type 2"	"Orphanet:139525"	"Orphanet:139525"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5246"	"HSPB1"	"Orphanet:139525"	"Distal hereditary motor neuropathy type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15122254[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16230"	"2021-09-14"
"GENCC_000110-HGNC_30171-Orphanet_99945-HP_0000006-GENCC_100009"	"HGNC:30171"	"HSPB8"	"MONDO:0012096"	"Charcot-Marie-Tooth disease axonal type 2L"	"Orphanet:99945"	"Orphanet:99945"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30171"	"HSPB8"	"Orphanet:99945"	"Autosomal dominant Charcot-Marie-Tooth disease type 2L"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16231"	"2021-09-14"
"GENCC_000110-HGNC_30171-Orphanet_139525-HP_0000006-GENCC_100009"	"HGNC:30171"	"HSPB8"	"MONDO:0015352"	"distal hereditary motor neuropathy type 2"	"Orphanet:139525"	"Orphanet:139525"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30171"	"HSPB8"	"Orphanet:139525"	"Distal hereditary motor neuropathy type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15122253[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16231"	"2021-09-14"
"GENCC_000110-HGNC_30171-Orphanet_476093-HP_0000006-GENCC_100009"	"HGNC:30171"	"HSPB8"	"MONDO:0018773"	"autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"	"Orphanet:476093"	"Orphanet:476093"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30171"	"HSPB8"	"Orphanet:476093"	"Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26718575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16231"	"2021-09-14"
"GENCC_000110-HGNC_5261-Orphanet_100994-HP_0000006-GENCC_100009"	"HGNC:5261"	"HSPD1"	"MONDO:0011532"	"hereditary spastic paraplegia 13"	"Orphanet:100994"	"Orphanet:100994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5261"	"HSPD1"	"Orphanet:100994"	"Autosomal dominant spastic paraplegia type 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1189812[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16233"	"2021-09-14"
"GENCC_000110-HGNC_5261-Orphanet_280288-HP_0000007-GENCC_100009"	"HGNC:5261"	"HSPD1"	"MONDO:0012824"	"hypomyelinating leukodystrophy 4"	"Orphanet:280288"	"Orphanet:280288"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5261"	"HSPD1"	"Orphanet:280288"	"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18571143[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16233"	"2021-09-14"
"GENCC_000110-HGNC_5273-Orphanet_800-HP_0000007-GENCC_100009"	"HGNC:5273"	"HSPG2"	"MONDO:0009717"	"Schwartz-Jampel syndrome"	"Orphanet:800"	"Orphanet:800"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5273"	"HSPG2"	"Orphanet:800"	"Schwartz-Jampel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19367640[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16234"	"2021-09-14"
"GENCC_000110-HGNC_5273-Orphanet_1865-HP_0000007-GENCC_100009"	"HGNC:5273"	"HSPG2"	"MONDO:0009140"	"Silverman-Handmaker type dyssegmental dysplasia"	"Orphanet:1865"	"Orphanet:1865"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5273"	"HSPG2"	"Orphanet:1865"	"Dyssegmental dysplasia, Silverman-Handmaker type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11279527[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16234"	"2021-09-14"
"GENCC_000110-HGNC_5320-Orphanet_67041-HP_0000007-GENCC_100009"	"HGNC:5320"	"HYAL1"	"MONDO:0011093"	"mucopolysaccharidosis type 9"	"Orphanet:67041"	"Orphanet:67041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5320"	"HYAL1"	"Orphanet:67041"	"Hyaluronidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10339581[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16236"	"2021-09-14"
"GENCC_000110-HGNC_26558-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:26558"	"HYLS1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26558"	"HYLS1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26830932[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16237"	"2021-09-14"
"GENCC_000110-HGNC_26558-Orphanet_2189-HP_0000007-GENCC_100009"	"HGNC:26558"	"HYLS1"	"MONDO:0006037"	"hydrolethalus syndrome"	"Orphanet:2189"	"Orphanet:2189"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26558"	"HYLS1"	"Orphanet:2189"	"Hydrolethalus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15843405[PMID]_18648327[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16237"	"2021-09-14"
"GENCC_000110-HGNC_5351-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:5351"	"ICOS"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5351"	"ICOS"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16238"	"2021-09-14"
"GENCC_000110-HGNC_5389-Orphanet_217085-HP_0001417-GENCC_100009"	"HGNC:5389"	"IDS"	"MONDO:0016315"	"mucopolysaccharidosis type 2, severe form"	"Orphanet:217085"	"Orphanet:217085"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5389"	"IDS"	"Orphanet:217085"	"Mucopolysaccharidosis type 2, severe form"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16239"	"2021-09-14"
"GENCC_000110-HGNC_5389-Orphanet_217093-HP_0001417-GENCC_100009"	"HGNC:5389"	"IDS"	"MONDO:0016316"	"mucopolysaccharidosis type 2, attenuated form"	"Orphanet:217093"	"Orphanet:217093"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5389"	"IDS"	"Orphanet:217093"	"Mucopolysaccharidosis type 2, attenuated form"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16239"	"2021-09-14"
"GENCC_000110-HGNC_5391-Orphanet_93473-HP_0000007-GENCC_100009"	"HGNC:5391"	"IDUA"	"MONDO:0011758"	"Hurler syndrome"	"Orphanet:93473"	"Orphanet:93473"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5391"	"IDUA"	"Orphanet:93473"	"Hurler syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8680403[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16240"	"2021-09-14"
"GENCC_000110-HGNC_5391-Orphanet_93474-HP_0000007-GENCC_100009"	"HGNC:5391"	"IDUA"	"MONDO:0011760"	"Scheie syndrome"	"Orphanet:93474"	"Orphanet:93474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5391"	"IDUA"	"Orphanet:93474"	"Scheie syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8680403[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16240"	"2021-09-14"
"GENCC_000110-HGNC_5391-Orphanet_93476-HP_0000007-GENCC_100009"	"HGNC:5391"	"IDUA"	"MONDO:0011759"	"Hurler-Scheie syndrome"	"Orphanet:93476"	"Orphanet:93476"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5391"	"IDUA"	"Orphanet:93476"	"Hurler-Scheie syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8680403[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16240"	"2021-09-14"
"GENCC_000110-HGNC_5439-Orphanet_99898-HP_0000007-GENCC_100009"	"HGNC:5439"	"IFNGR1"	"MONDO:0020530"	"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"	"Orphanet:99898"	"Orphanet:99898"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5439"	"IFNGR1"	"Orphanet:99898"	"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16242"	"2021-09-14"
"GENCC_000110-HGNC_5439-Orphanet_319569-HP_0000007-GENCC_100009"	"HGNC:5439"	"IFNGR1"	"MONDO:0017901"	"autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	"Orphanet:319569"	"Orphanet:319569"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5439"	"IFNGR1"	"Orphanet:319569"	"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16242"	"2021-09-14"
"GENCC_000110-HGNC_5439-Orphanet_319581-HP_0000006-GENCC_100009"	"HGNC:5439"	"IFNGR1"	"MONDO:0014429"	"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	"Orphanet:319581"	"Orphanet:319581"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5439"	"IFNGR1"	"Orphanet:319581"	"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16242"	"2021-09-14"
"GENCC_000110-HGNC_5440-Orphanet_319547-HP_0000007-GENCC_100009"	"HGNC:5440"	"IFNGR2"	"MONDO:0017900"	"autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"	"Orphanet:319547"	"Orphanet:319547"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5440"	"IFNGR2"	"Orphanet:319547"	"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16243"	"2021-09-14"
"GENCC_000110-HGNC_5440-Orphanet_319574-HP_0000007-GENCC_100009"	"HGNC:5440"	"IFNGR2"	"MONDO:0017902"	"autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"	"Orphanet:319574"	"Orphanet:319574"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5440"	"IFNGR2"	"Orphanet:319574"	"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16243"	"2021-09-14"
"GENCC_000110-HGNC_5440-Orphanet_319589-HP_0000006-GENCC_100009"	"HGNC:5440"	"IFNGR2"	"MONDO:0017903"	"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"	"Orphanet:319589"	"Orphanet:319589"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5440"	"IFNGR2"	"Orphanet:319589"	"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16243"	"2021-09-14"
"GENCC_000110-HGNC_5461-Orphanet_52055-HP_0001417-GENCC_100009"	"HGNC:5461"	"IGBP1"	"MONDO:0010333"	"corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	"Orphanet:52055"	"Orphanet:52055"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5461"	"IGBP1"	"Orphanet:52055"	"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14556245[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16244"	"2021-09-14"
"GENCC_000110-HGNC_5464-Orphanet_73272-HP_0000007-GENCC_100009"	"HGNC:5464"	"IGF1"	"MONDO:0012110"	"growth delay due to insulin-like growth factor type 1 deficiency"	"Orphanet:73272"	"Orphanet:73272"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5464"	"IGF1"	"Orphanet:73272"	"Growth delay due to insulin-like growth factor type 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8857020[PMID]_14684690[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16245"	"2021-09-14"
"GENCC_000110-HGNC_5541-Orphanet_33110-HP_0000006-GENCC_100009"	"HGNC:5541"	"IGHM"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"Orphanet:33110"	"Orphanet:33110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5541"	"IGHM"	"Orphanet:33110"	"Autosomal agammaglobulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8890099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16247"	"2021-09-14"
"GENCC_000110-HGNC_5542-Orphanet_98920-HP_0000007-GENCC_100009"	"HGNC:5542"	"IGHMBP2"	"MONDO:0011436"	"autosomal recessive distal spinal muscular atrophy 1"	"Orphanet:98920"	"Orphanet:98920"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5542"	"IGHMBP2"	"Orphanet:98920"	"Spinal muscular atrophy with respiratory distress type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11528396[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16248"	"2021-09-14"
"GENCC_000110-HGNC_5542-Orphanet_443073-HP_0000007-GENCC_100009"	"HGNC:5542"	"IGHMBP2"	"MONDO:0014511"	"Charcot-Marie-Tooth disease axonal type 2S"	"Orphanet:443073"	"Orphanet:443073"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5542"	"IGHMBP2"	"Orphanet:443073"	"Charcot-Marie-Tooth disease type 2S"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25439726[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16248"	"2021-09-14"
"GENCC_000110-HGNC_5870-Orphanet_33110-HP_0000006-GENCC_100009"	"HGNC:5870"	"IGLL1"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"Orphanet:33110"	"Orphanet:33110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5870"	"IGLL1"	"Orphanet:33110"	"Autosomal agammaglobulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9419212[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16249"	"2021-09-14"
"GENCC_000110-HGNC_5956-Orphanet_63446-HP_0000007-GENCC_100009"	"HGNC:5956"	"IHH"	"MONDO:0011907"	"acrocapitofemoral dysplasia"	"Orphanet:63446"	"Orphanet:63446"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5956"	"IHH"	"Orphanet:63446"	"Acrocapitofemoral dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12632327[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16250"	"2021-09-14"
"GENCC_000110-HGNC_5956-Orphanet_93388-HP_0000006-GENCC_100009"	"HGNC:5956"	"IHH"	"MONDO:0007215"	"brachydactyly type A1"	"Orphanet:93388"	"Orphanet:93388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5956"	"IHH"	"Orphanet:93388"	"Brachydactyly type A1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11455389[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16250"	"2021-09-14"
"GENCC_000110-HGNC_5959-Orphanet_1764-HP_0000007-GENCC_100009"	"HGNC:5959"	"ELP1"	"MONDO:0009131"	"Riley-Day syndrome"	"Orphanet:1764"	"Orphanet:1764"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5959"	"ELP1"	"Orphanet:1764"	"Familial dysautonomia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301359[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16251"	"2021-09-14"
"GENCC_000110-HGNC_5961-Orphanet_464-HP_0001417-GENCC_100009"	"HGNC:5961"	"IKBKG"	"MONDO:0010631"	"incontinentia pigmenti"	"Orphanet:464"	"Orphanet:464"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5961"	"IKBKG"	"Orphanet:464"	"Incontinentia pigmenti"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301645[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16252"	"2021-09-14"
"GENCC_000110-HGNC_5961-Orphanet_69088-HP_0001417-GENCC_100009"	"HGNC:5961"	"IKBKG"	"MONDO:0010295"	"anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"	"Orphanet:69088"	"Orphanet:69088"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5961"	"IKBKG"	"Orphanet:69088"	"Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16252"	"2021-09-14"
"GENCC_000110-HGNC_5961-Orphanet_98813-HP_0000006-GENCC_100009"	"HGNC:5961"	"IKBKG"	"MONDO:0010293"	"ectodermal dysplasia and immune deficiency"	"Orphanet:98813"	"Orphanet:98813"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5961"	"IKBKG"	"Orphanet:98813"	"Hypohidrotic ectodermal dysplasia with immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16252"	"2021-09-14"
"GENCC_000110-HGNC_5961-Orphanet_319612-HP_0001417-GENCC_100009"	"HGNC:5961"	"IKBKG"	"MONDO:0010386"	"immunodeficiency 33"	"Orphanet:319612"	"Orphanet:319612"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5961"	"IKBKG"	"Orphanet:319612"	"X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16252"	"2021-09-14"
"GENCC_000110-HGNC_5962-Orphanet_238569-HP_0000007-GENCC_100009"	"HGNC:5962"	"IL10"	"MONDO:0016542"	"IL10-related early-onset inflammatory bowel disease"	"Orphanet:238569"	"Orphanet:238569"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5962"	"IL10"	"Orphanet:238569"	"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22549091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16253"	"2021-09-14"
"GENCC_000110-HGNC_5970-Orphanet_319558-HP_0000007-GENCC_100009"	"HGNC:5970"	"IL12B"	"MONDO:0013954"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"	"Orphanet:319558"	"Orphanet:319558"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5970"	"IL12B"	"Orphanet:319558"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16254"	"2021-09-14"
"GENCC_000110-HGNC_5971-Orphanet_319552-HP_0000007-GENCC_100009"	"HGNC:5971"	"IL12RB1"	"MONDO:0013955"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"	"Orphanet:319552"	"Orphanet:319552"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5971"	"IL12RB1"	"Orphanet:319552"	"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16255"	"2021-09-14"
"GENCC_000110-HGNC_6010-Orphanet_276-HP_0001417-GENCC_100009"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"Orphanet:276"	"Orphanet:276"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6010"	"IL2RG"	"Orphanet:276"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16257"	"2021-09-14"
"GENCC_000110-HGNC_6010-Orphanet_39041-HP_0000007-GENCC_100009"	"HGNC:6010"	"IL2RG"	"MONDO:0011338"	"Omenn syndrome"	"Orphanet:39041"	"Orphanet:39041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6010"	"IL2RG"	"Orphanet:39041"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16257"	"2021-09-14"
"GENCC_000110-HGNC_6052-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:6052"	"IMPDH1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6052"	"IMPDH1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16259"	"2021-09-14"
"GENCC_000110-HGNC_6052-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:6052"	"IMPDH1"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6052"	"IMPDH1"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16384941[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16259"	"2021-09-14"
"GENCC_000110-HGNC_6091-Orphanet_508-HP_0000007-GENCC_100009"	"HGNC:6091"	"INSR"	"MONDO:0009517"	"Donohue syndrome"	"Orphanet:508"	"Orphanet:508"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6091"	"INSR"	"Orphanet:508"	"Leprechaunism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12023989[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16263"	"2021-09-14"
"GENCC_000110-HGNC_6091-Orphanet_2297-HP_0000006-GENCC_100009"	"HGNC:6091"	"INSR"	"MONDO:0012520"	"insulin-resistance syndrome type A"	"Orphanet:2297"	"Orphanet:2297"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6091"	"INSR"	"Orphanet:2297"	"Insulin-resistance syndrome type A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8288049[PMID]_20339196[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16263"	"2021-09-14"
"GENCC_000110-HGNC_6091-Orphanet_769-HP_0000007-GENCC_100009"	"HGNC:6091"	"INSR"	"MONDO:0009874"	"Rabson-Mendenhall syndrome"	"Orphanet:769"	"Orphanet:769"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6091"	"INSR"	"Orphanet:769"	"Rabson-Mendenhall syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21869538[PMID]_17201797[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16263"	"2021-09-14"
"GENCC_000110-HGNC_6091-Orphanet_263458-HP_0000006-GENCC_100009"	"HGNC:6091"	"INSR"	"MONDO:0012381"	"hyperinsulinism due to INSR deficiency"	"Orphanet:263458"	"Orphanet:263458"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6091"	"INSR"	"Orphanet:263458"	"Hyperinsulinism due to INSR deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15161766[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16263"	"2021-09-14"
"GENCC_000110-HGNC_17870-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:17870"	"INVS"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17870"	"INVS"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16522655[PMID]_22819833[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16264"	"2021-09-14"
"GENCC_000110-HGNC_17870-Orphanet_93591-HP_0000007-GENCC_100009"	"HGNC:17870"	"INVS"	"MONDO:0011190"	"nephronophthisis 2"	"Orphanet:93591"	"Orphanet:93591"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17870"	"INVS"	"Orphanet:93591"	"Infantile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16264"	"2021-09-14"
"GENCC_000110-HGNC_28949-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:28949"	"IQCB1"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28949"	"IQCB1"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22819833[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16265"	"2021-09-14"
"GENCC_000110-HGNC_28949-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:28949"	"IQCB1"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28949"	"IQCB1"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20881296[PMID]_21901789[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16265"	"2021-09-14"
"GENCC_000110-HGNC_17967-Orphanet_70592-HP_0000007-GENCC_100009"	"HGNC:17967"	"IRAK4"	"MONDO:0011888"	"immunodeficiency 67"	"Orphanet:70592"	"Orphanet:70592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17967"	"IRAK4"	"Orphanet:70592"	"Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16266"	"2021-09-14"
"GENCC_000110-HGNC_6121-Orphanet_888-HP_0000006-GENCC_100009"	"HGNC:6121"	"IRF6"	"MONDO:0019508"	"van der Woude syndrome"	"Orphanet:888"	"Orphanet:888"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6121"	"IRF6"	"Orphanet:888"	"Van der Woude syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16269"	"2021-09-14"
"GENCC_000110-HGNC_6121-Orphanet_1300-HP_0000006-GENCC_100009"	"HGNC:6121"	"IRF6"	"MONDO:0007334"	"autosomal dominant popliteal pterygium syndrome"	"Orphanet:1300"	"Orphanet:1300"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6121"	"IRF6"	"Orphanet:1300"	"Autosomal dominant popliteal pterygium syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301581[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16269"	"2021-09-14"
"GENCC_000110-HGNC_6121-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:6121"	"IRF6"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6121"	"IRF6"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16269"	"2021-09-14"
"GENCC_000110-HGNC_6138-Orphanet_849-HP_0000007-GENCC_100009"	"HGNC:6138"	"ITGA2B"	"MONDO:0010119"	"Glanzmann's thrombasthenia"	"Orphanet:849"	"Orphanet:849"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6138"	"ITGA2B"	"Orphanet:849"	"Glanzmann thrombasthenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21917754[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16271"	"2021-09-14"
"GENCC_000110-HGNC_6138-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:6138"	"ITGA2B"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6138"	"ITGA2B"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21454453[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16271"	"2021-09-14"
"GENCC_000110-HGNC_6142-Orphanet_79403-HP_0000007-GENCC_100009"	"HGNC:6142"	"ITGA6"	"MONDO:0009183"	"junctional epidermolysis bullosa with pyloric atresia"	"Orphanet:79403"	"Orphanet:79403"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6142"	"ITGA6"	"Orphanet:79403"	"Junctional epidermolysis bullosa with pyloric atresia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9185503[PMID]_20301336[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16272"	"2021-09-14"
"GENCC_000110-HGNC_6155-Orphanet_99842-HP_0000007-GENCC_100009"	"HGNC:6155"	"ITGB2"	"MONDO:0007293"	"leukocyte adhesion deficiency 1"	"Orphanet:99842"	"Orphanet:99842"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6155"	"ITGB2"	"Orphanet:99842"	"Leukocyte adhesion deficiency type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16273"	"2021-09-14"
"GENCC_000110-HGNC_6156-Orphanet_849-HP_0000007-GENCC_100009"	"HGNC:6156"	"ITGB3"	"MONDO:0010119"	"Glanzmann's thrombasthenia"	"Orphanet:849"	"Orphanet:849"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6156"	"ITGB3"	"Orphanet:849"	"Glanzmann thrombasthenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21917754[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16274"	"2021-09-14"
"GENCC_000110-HGNC_6156-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:6156"	"ITGB3"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6156"	"ITGB3"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18065693[PMID]_19336737[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16274"	"2021-09-14"
"GENCC_000110-HGNC_6158-Orphanet_1114-HP_0000006-GENCC_100009"	"HGNC:6158"	"ITGB4"	"MONDO:0007145"	"aplasia cutis congenita"	"Orphanet:1114"	"Orphanet:1114"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6158"	"ITGB4"	"Orphanet:1114"	"Aplasia cutis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31184804[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16275"	"2021-09-14"
"GENCC_000110-HGNC_6158-Orphanet_79402-HP_0000007-GENCC_100009"	"HGNC:6158"	"ITGB4"	"MONDO:0019307"	"generalized junctional epidermolysis bullosa non-Herlitz type"	"Orphanet:79402"	"Orphanet:79402"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6158"	"ITGB4"	"Orphanet:79402"	"Intermediate generalized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10792571[PMID]_16473856[PMID]_20301304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16275"	"2021-09-14"
"GENCC_000110-HGNC_6158-Orphanet_79403-HP_0000007-GENCC_100009"	"HGNC:6158"	"ITGB4"	"MONDO:0009183"	"junctional epidermolysis bullosa with pyloric atresia"	"Orphanet:79403"	"Orphanet:79403"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6158"	"ITGB4"	"Orphanet:79403"	"Junctional epidermolysis bullosa with pyloric atresia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11328943[PMID]_20301336[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16275"	"2021-09-14"
"GENCC_000110-HGNC_6158-Orphanet_158684-HP_0000007-GENCC_100009"	"HGNC:6158"	"ITGB4"	"MONDO:0012807"	"epidermolysis bullosa simplex 5C, with pyloric atresia"	"Orphanet:158684"	"Orphanet:158684"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6158"	"ITGB4"	"Orphanet:158684"	"Epidermolysis bullosa simplex with pyloric atresia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16275"	"2021-09-14"
"GENCC_000110-HGNC_6158-Orphanet_251393-HP_0000007-GENCC_100009"	"HGNC:6158"	"ITGB4"	"MONDO:0016673"	"localized junctional epidermolysis bullosa, non-Herlitz type"	"Orphanet:251393"	"Orphanet:251393"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6158"	"ITGB4"	"Orphanet:251393"	"Localized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16275"	"2021-09-14"
"GENCC_000110-HGNC_6174-Orphanet_97345-HP_0000006-GENCC_100009"	"HGNC:6174"	"ITM2B"	"MONDO:0008306"	"ABri amyloidosis"	"Orphanet:97345"	"Orphanet:97345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6174"	"ITM2B"	"Orphanet:97345"	"ABri amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10391242[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16276"	"2021-09-14"
"GENCC_000110-HGNC_6174-Orphanet_97346-HP_0000006-GENCC_100009"	"HGNC:6174"	"ITM2B"	"MONDO:0007297"	"ADan amyloidosis"	"Orphanet:97346"	"Orphanet:97346"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6174"	"ITM2B"	"Orphanet:97346"	"ADan amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10781099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16276"	"2021-09-14"
"GENCC_000110-HGNC_6174-Orphanet_397758-HP_0000006-GENCC_100009"	"HGNC:6174"	"ITM2B"	"MONDO:0014483"	"retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"	"Orphanet:397758"	"Orphanet:397758"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6174"	"ITM2B"	"Orphanet:397758"	"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24026677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16276"	"2021-09-14"
"GENCC_000110-HGNC_6186-Orphanet_33-HP_0000007-GENCC_100009"	"HGNC:6186"	"IVD"	"MONDO:0009475"	"isovaleric acidemia"	"Orphanet:33"	"Orphanet:33"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6186"	"IVD"	"Orphanet:33"	"Isovaleric acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16277"	"2021-09-14"
"GENCC_000110-HGNC_6188-Orphanet_3303-HP_0000006-GENCC_100009"	"HGNC:6188"	"JAG1"	"MONDO:0008542"	"tetralogy of fallot"	"Orphanet:3303"	"Orphanet:3303"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6188"	"JAG1"	"Orphanet:3303"	"Tetralogy of Fallot"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21893051[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16278"	"2021-09-14"
"GENCC_000110-HGNC_6192-Orphanet_71493-HP_0000006-GENCC_100009"	"HGNC:6192"	"JAK2"	"MONDO:0019111"	"familial thrombocytosis"	"Orphanet:71493"	"Orphanet:71493"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6192"	"JAK2"	"Orphanet:71493"	"Familial thrombocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22397670[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16279"	"2021-09-14"
"GENCC_000110-HGNC_6193-Orphanet_35078-HP_0000007-GENCC_100009"	"HGNC:6193"	"JAK3"	"MONDO:0010938"	"T-B+ severe combined immunodeficiency due to JAK3 deficiency"	"Orphanet:35078"	"Orphanet:35078"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6193"	"JAK3"	"Orphanet:35078"	"T-B+ severe combined immunodeficiency due to JAK3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16280"	"2021-09-14"
"GENCC_000110-HGNC_11114-Orphanet_85279-HP_0001417-GENCC_100009"	"HGNC:11114"	"KDM5C"	"MONDO:0010355"	"syndromic X-linked intellectual disability Claes-Jensen type"	"Orphanet:85279"	"Orphanet:85279"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11114"	"KDM5C"	"Orphanet:85279"	"Syndromic X-linked intellectual disability due to JARID1C mutation"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15586325[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16281"	"2021-09-14"
"GENCC_000110-HGNC_14203-Orphanet_98934-HP_0000006-GENCC_100009"	"HGNC:14203"	"JPH3"	"MONDO:0011671"	"Huntington disease-like 2"	"Orphanet:98934"	"Orphanet:98934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14203"	"JPH3"	"Orphanet:98934"	"Huntington disease-like 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16282"	"2021-09-14"
"GENCC_000110-HGNC_6207-Orphanet_34217-HP_0000007-GENCC_100009"	"HGNC:6207"	"JUP"	"MONDO:0011017"	"Naxos disease"	"Orphanet:34217"	"Orphanet:34217"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6207"	"JUP"	"Orphanet:34217"	"Naxos disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301310[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16283"	"2021-09-14"
"GENCC_000110-HGNC_6207-Orphanet_158687-HP_0000007-GENCC_100009"	"HGNC:6207"	"JUP"	"MONDO:0012323"	"lethal acantholytic epidermolysis bullosa"	"Orphanet:158687"	"Orphanet:158687"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6207"	"JUP"	"Orphanet:158687"	"Lethal acantholytic erosive disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21320868[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16283"	"2021-09-14"
"GENCC_000110-HGNC_6211-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:6211"	"ANOS1"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6211"	"ANOS1"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21168128[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16284"	"2021-09-14"
"GENCC_000110-HGNC_6218-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:6218"	"KCNA1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6218"	"KCNA1"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30055040[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16285"	"2021-09-14"
"GENCC_000110-HGNC_6218-Orphanet_37612-HP_0000006-GENCC_100009"	"HGNC:6218"	"KCNA1"	"MONDO:0008047"	"episodic ataxia type 1"	"Orphanet:37612"	"Orphanet:37612"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6218"	"KCNA1"	"Orphanet:37612"	"Episodic ataxia type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301785[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16285"	"2021-09-14"
"GENCC_000110-HGNC_6218-Orphanet_98809-HP_0000006-GENCC_100009"	"HGNC:6218"	"KCNA1"	"MONDO:0007494"	"episodic kinesigenic dyskinesia 1"	"Orphanet:98809"	"Orphanet:98809"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6218"	"KCNA1"	"Orphanet:98809"	"Paroxysmal kinesigenic dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29294000[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16285"	"2021-09-14"
"GENCC_000110-HGNC_6218-Orphanet_199326-HP_0000006-GENCC_100009"	"HGNC:6218"	"KCNA1"	"MONDO:0016048"	"isolated autosomal dominant hypomagnesemia, Glaudemans type"	"Orphanet:199326"	"Orphanet:199326"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6218"	"KCNA1"	"Orphanet:199326"	"Isolated autosomal dominant hypomagnesemia, Glaudemans type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19307729[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16285"	"2021-09-14"
"GENCC_000110-HGNC_6240-Orphanet_90647-HP_0000007-GENCC_100009"	"HGNC:6240"	"KCNE1"	"MONDO:0009078"	"Jervell and Lange-Nielsen syndrome"	"Orphanet:90647"	"Orphanet:90647"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6240"	"KCNE1"	"Orphanet:90647"	"Jervell and Lange-Nielsen syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301579[PMID]_24093767[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16286"	"2021-09-14"
"GENCC_000110-HGNC_6242-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:6242"	"KCNE2"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6242"	"KCNE2"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15368194[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16288"	"2021-09-14"
"GENCC_000110-HGNC_6251-Orphanet_51083-HP_0000006-GENCC_100009"	"HGNC:6251"	"KCNH2"	"MONDO:0000453"	"short QT syndrome"	"Orphanet:51083"	"Orphanet:51083"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6251"	"KCNH2"	"Orphanet:51083"	"Familial short QT syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15828882[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16290"	"2021-09-14"
"GENCC_000110-HGNC_6255-Orphanet_93604-HP_0000007-GENCC_100009"	"HGNC:6255"	"KCNJ1"	"MONDO:0100343"	"antenatal Bartter syndrome"	"Orphanet:93604"	"Orphanet:93604"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6255"	"KCNJ1"	"Orphanet:93604"	"Antenatal Bartter syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9002665[PMID]_8841184[PMID]_23782368[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16291"	"2021-09-14"
"GENCC_000110-HGNC_6257-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:6257"	"KCNJ11"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6257"	"KCNJ11"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22701567[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16292"	"2021-09-14"
"GENCC_000110-HGNC_6257-Orphanet_79134-HP_0000006-GENCC_100009"	"HGNC:6257"	"KCNJ11"	"MONDO:0019207"	"DEND syndrome"	"Orphanet:79134"	"Orphanet:79134"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6257"	"KCNJ11"	"Orphanet:79134"	"DEND syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22498247[PMID]_17652641[PMID]_22145471[PMID]_23382304[PMID]_24150202[PMID]_24912436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16292"	"2021-09-14"
"GENCC_000110-HGNC_6257-Orphanet_79644-HP_0000007-GENCC_100009"	"HGNC:6257"	"KCNJ11"	"MONDO:0019334"	"autosomal recessive hyperinsulinism due to Kir6.2 deficiency"	"Orphanet:79644"	"Orphanet:79644"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6257"	"KCNJ11"	"Orphanet:79644"	"Autosomal recessive hyperinsulinism due to Kir6.2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8923010[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16292"	"2021-09-14"
"GENCC_000110-HGNC_6257-Orphanet_99885-HP_0000006-GENCC_100009"	"HGNC:6257"	"KCNJ11"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"Orphanet:99885"	"Orphanet:99885"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6257"	"KCNJ11"	"Orphanet:99885"	"Isolated permanent neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]_20301620[PMID]_24150202[PMID]_24468099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16292"	"2021-09-14"
"GENCC_000110-HGNC_6257-Orphanet_99886-HP_0000006-GENCC_100009"	"HGNC:6257"	"KCNJ11"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"Orphanet:99886"	"Orphanet:99886"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6257"	"KCNJ11"	"Orphanet:99886"	"Transient neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]_21352428[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16292"	"2021-09-14"
"GENCC_000110-HGNC_6257-Orphanet_99989-HP_0000006-GENCC_100009"	"HGNC:6257"	"KCNJ11"	"MONDO:0020569"	"intermediate DEND syndrome"	"Orphanet:99989"	"Orphanet:99989"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6257"	"KCNJ11"	"Orphanet:99989"	"Intermediate DEND syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16292"	"2021-09-14"
"GENCC_000110-HGNC_6257-Orphanet_276580-HP_0000006-GENCC_100009"	"HGNC:6257"	"KCNJ11"	"MONDO:0017185"	"autosomal dominant hyperinsulinism due to Kir6.2 deficiency"	"Orphanet:276580"	"Orphanet:276580"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6257"	"KCNJ11"	"Orphanet:276580"	"Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18596924[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16292"	"2021-09-14"
"GENCC_000110-HGNC_6257-Orphanet_276603-HP_0000007-GENCC_100009"	"HGNC:6257"	"KCNJ11"	"MONDO:0017188"	"diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"	"Orphanet:276603"	"Orphanet:276603"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6257"	"KCNJ11"	"Orphanet:276603"	"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21967988[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16292"	"2021-09-14"
"GENCC_000110-HGNC_6263-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:6263"	"KCNJ2"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6263"	"KCNJ2"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15922306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16293"	"2021-09-14"
"GENCC_000110-HGNC_6263-Orphanet_37553-HP_0000006-GENCC_100009"	"HGNC:6263"	"KCNJ2"	"MONDO:0008222"	"Andersen-Tawil syndrome"	"Orphanet:37553"	"Orphanet:37553"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6263"	"KCNJ2"	"Orphanet:37553"	"Andersen-Tawil syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301441[PMID]_16571646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16293"	"2021-09-14"
"GENCC_000110-HGNC_6263-Orphanet_51083-HP_0000006-GENCC_100009"	"HGNC:6263"	"KCNJ2"	"MONDO:0000453"	"short QT syndrome"	"Orphanet:51083"	"Orphanet:51083"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6263"	"KCNJ2"	"Orphanet:51083"	"Familial short QT syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15761194[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16293"	"2021-09-14"
"GENCC_000110-HGNC_6284-Orphanet_79137-HP_0000006-GENCC_100009"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"Orphanet:79137"	"Orphanet:79137"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6284"	"KCNMA1"	"Orphanet:79137"	"Generalized epilepsy-paroxysmal dyskinesia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15937479[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16294"	"2021-09-14"
"GENCC_000110-HGNC_6294-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:6294"	"KCNQ1"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6294"	"KCNQ1"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12522251[PMID]_22471742[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16295"	"2021-09-14"
"GENCC_000110-HGNC_6294-Orphanet_51083-HP_0000006-GENCC_100009"	"HGNC:6294"	"KCNQ1"	"MONDO:0000453"	"short QT syndrome"	"Orphanet:51083"	"Orphanet:51083"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6294"	"KCNQ1"	"Orphanet:51083"	"Familial short QT syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15159330[PMID]_26346102[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16295"	"2021-09-14"
"GENCC_000110-HGNC_6294-Orphanet_90647-HP_0000007-GENCC_100009"	"HGNC:6294"	"KCNQ1"	"MONDO:0009078"	"Jervell and Lange-Nielsen syndrome"	"Orphanet:90647"	"Orphanet:90647"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6294"	"KCNQ1"	"Orphanet:90647"	"Jervell and Lange-Nielsen syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301579[PMID]_24093767[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16295"	"2021-09-14"
"GENCC_000110-HGNC_6296-Orphanet_1949-HP_0000006-GENCC_100009"	"HGNC:6296"	"KCNQ2"	"MONDO:0016027"	"benign neonatal seizures"	"Orphanet:1949"	"Orphanet:1949"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6296"	"KCNQ2"	"Orphanet:1949"	"Benign familial neonatal epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20437616[PMID]_24375629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16296"	"2021-09-14"
"GENCC_000110-HGNC_6296-Orphanet_306-HP_0000006-GENCC_100009"	"HGNC:6296"	"KCNQ2"	"MONDO:0017615"	"benign familial infantile epilepsy"	"Orphanet:306"	"Orphanet:306"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6296"	"KCNQ2"	"Orphanet:306"	"Benign familial infantile epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16296"	"2021-09-14"
"GENCC_000110-HGNC_6296-Orphanet_140927-HP_0000006-GENCC_100009"	"HGNC:6296"	"KCNQ2"	"MONDO:0011140"	"benign familial neonatal-infantile seizures"	"Orphanet:140927"	"Orphanet:140927"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6296"	"KCNQ2"	"Orphanet:140927"	"Benign familial neonatal-infantile seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23360469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16296"	"2021-09-14"
"GENCC_000110-HGNC_6296-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:6296"	"KCNQ2"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6296"	"KCNQ2"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31618474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16296"	"2021-09-14"
"GENCC_000110-HGNC_6296-Orphanet_439218-HP_0000006-GENCC_100009"	"HGNC:6296"	"KCNQ2"	"MONDO:0013387"	"developmental and epileptic encephalopathy, 7"	"Orphanet:439218"	"Orphanet:439218"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6296"	"KCNQ2"	"Orphanet:439218"	"KCNQ2-related epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23621294[PMID]_20437616[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16296"	"2021-09-14"
"GENCC_000110-HGNC_6297-Orphanet_1949-HP_0000006-GENCC_100009"	"HGNC:6297"	"KCNQ3"	"MONDO:0016027"	"benign neonatal seizures"	"Orphanet:1949"	"Orphanet:1949"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6297"	"KCNQ3"	"Orphanet:1949"	"Benign familial neonatal epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24851285[PMID]_24375629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16297"	"2021-09-14"
"GENCC_000110-HGNC_6297-Orphanet_306-HP_0000006-GENCC_100009"	"HGNC:6297"	"KCNQ3"	"MONDO:0017615"	"benign familial infantile epilepsy"	"Orphanet:306"	"Orphanet:306"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6297"	"KCNQ3"	"Orphanet:306"	"Benign familial infantile epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23360469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16297"	"2021-09-14"
"GENCC_000110-HGNC_6298-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:6298"	"KCNQ4"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6298"	"KCNQ4"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16298"	"2021-09-14"
"GENCC_000110-HGNC_6309-Orphanet_53691-HP_0000006-GENCC_100009"	"HGNC:6309"	"KERA"	"MONDO:0018888"	"congenital cornea plana"	"Orphanet:53691"	"Orphanet:53691"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6309"	"KERA"	"Orphanet:53691"	"Congenital cornea plana"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10802664[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16299"	"2021-09-14"
"GENCC_000110-HGNC_6315-Orphanet_2056-HP_0000007-GENCC_100009"	"HGNC:6315"	"KHK"	"MONDO:0009252"	"essential fructosuria"	"Orphanet:2056"	"Orphanet:2056"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6315"	"KHK"	"Orphanet:2056"	"Essential fructosuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7833921[PMID]_19237742[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16300"	"2021-09-14"
"GENCC_000110-HGNC_28984-Orphanet_7-HP_0000007-GENCC_100009"	"HGNC:28984"	"WASHC5"	"MONDO:0019078"	"Ritscher-Schinzel syndrome"	"Orphanet:7"	"Orphanet:7"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28984"	"WASHC5"	"Orphanet:7"	"3C syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24065355[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16301"	"2021-09-14"
"GENCC_000110-HGNC_28984-Orphanet_100989-HP_0000006-GENCC_100009"	"HGNC:28984"	"WASHC5"	"MONDO:0011339"	"hereditary spastic paraplegia 8"	"Orphanet:100989"	"Orphanet:100989"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28984"	"WASHC5"	"Orphanet:100989"	"Autosomal dominant spastic paraplegia type 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17160902[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16301"	"2021-09-14"
"GENCC_000110-HGNC_23419-Orphanet_66629-HP_0000007-GENCC_100009"	"HGNC:23419"	"KIFBP"	"MONDO:0012280"	"Goldberg-Shprintzen syndrome"	"Orphanet:66629"	"Orphanet:66629"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23419"	"KIFBP"	"Orphanet:66629"	"Goldberg-Shprintzen megacolon syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15883926[PMID]_23427148[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16302"	"2021-09-14"
"GENCC_000110-HGNC_29433-Orphanet_1942-HP_0000005-GENCC_100009"	"HGNC:29433"	"NEXMIF"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"Orphanet:1942"	"Orphanet:1942"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:29433"	"NEXMIF"	"Orphanet:1942"	"Myoclonic-astatic epilepsy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32469098[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16303"	"2021-09-14"
"GENCC_000110-HGNC_29433-Orphanet_85277-HP_0001417-GENCC_100009"	"HGNC:29433"	"NEXMIF"	"MONDO:0010483"	"X-linked intellectual disability, Cantagrel type"	"Orphanet:85277"	"Orphanet:85277"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:29433"	"NEXMIF"	"Orphanet:85277"	"X-linked intellectual disability, Cantagrel type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23615299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16303"	"2021-09-14"
"GENCC_000110-HGNC_16636-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:16636"	"KIF1B"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16636"	"KIF1B"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18334619[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16304"	"2021-09-14"
"GENCC_000110-HGNC_16636-Orphanet_99946-HP_0000006-GENCC_100009"	"HGNC:16636"	"KIF1B"	"MONDO:0007308"	"Charcot-Marie-Tooth disease type 2A1"	"Orphanet:99946"	"Orphanet:99946"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16636"	"KIF1B"	"Orphanet:99946"	"Autosomal dominant Charcot-Marie-Tooth disease type 2A1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11389829[PMID]_20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16304"	"2021-09-14"
"GENCC_000110-HGNC_19349-Orphanet_45358-HP_0000006-GENCC_100009"	"HGNC:19349"	"KIF21A"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"Orphanet:45358"	"Orphanet:45358"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19349"	"KIF21A"	"Orphanet:45358"	"Congenital fibrosis of extraocular muscles"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301522[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16305"	"2021-09-14"
"GENCC_000110-HGNC_6323-Orphanet_100991-HP_0000006-GENCC_100009"	"HGNC:6323"	"KIF5A"	"MONDO:0011408"	"hereditary spastic paraplegia 10"	"Orphanet:100991"	"Orphanet:100991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6323"	"KIF5A"	"Orphanet:100991"	"Autosomal dominant spastic paraplegia type 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21623771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16306"	"2021-09-14"
"GENCC_000110-HGNC_6323-Orphanet_324611-HP_0000006-GENCC_100009"	"HGNC:6323"	"KIF5A"	"MONDO:0017940"	"autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"	"Orphanet:324611"	"Orphanet:324611"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6323"	"KIF5A"	"Orphanet:324611"	"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21623771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16306"	"2021-09-14"
"GENCC_000110-HGNC_4510-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:4510"	"KISS1R"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4510"	"KISS1R"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21193544[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16307"	"2021-09-14"
"GENCC_000110-HGNC_6342-Orphanet_2884-HP_0000006-GENCC_100009"	"HGNC:6342"	"KIT"	"MONDO:0008244"	"piebaldism"	"Orphanet:2884"	"Orphanet:2884"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6342"	"KIT"	"Orphanet:2884"	"Piebaldism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22670867[PMID]_25199540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16308"	"2021-09-14"
"GENCC_000110-HGNC_6342-Orphanet_44890-HP_0000006-GENCC_100009"	"HGNC:6342"	"KIT"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"Orphanet:44890"	"Orphanet:44890"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6342"	"KIT"	"Orphanet:44890"	"Gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11073817[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16308"	"2021-09-14"
"GENCC_000110-HGNC_11811-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:11811"	"KLF11"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11811"	"KLF11"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16309"	"2021-09-14"
"GENCC_000110-HGNC_6371-Orphanet_749-HP_0000007-GENCC_100009"	"HGNC:6371"	"KLKB1"	"MONDO:0012901"	"inherited prekallikrein deficiency"	"Orphanet:749"	"Orphanet:749"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6371"	"KLKB1"	"Orphanet:749"	"Congenital prekallikrein deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15461630[PMID]_20301226[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16310"	"2021-09-14"
"GENCC_000110-HGNC_6383-Orphanet_483-HP_0000007-GENCC_100009"	"HGNC:6383"	"KNG1"	"MONDO:0009234"	"congenital high-molecular-weight kininogen deficiency"	"Orphanet:483"	"Orphanet:483"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6383"	"KNG1"	"Orphanet:483"	"Congenital high-molecular-weight kininogen deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17522339[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16311"	"2021-09-14"
"GENCC_000110-HGNC_6407-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:6407"	"KRAS"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6407"	"KRAS"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16773572[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16312"	"2021-09-14"
"GENCC_000110-HGNC_6407-Orphanet_1340-HP_0000006-GENCC_100009"	"HGNC:6407"	"KRAS"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"Orphanet:1340"	"Orphanet:1340"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6407"	"KRAS"	"Orphanet:1340"	"Cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301365[PMID]_16825433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16312"	"2021-09-14"
"GENCC_000110-HGNC_1573-Orphanet_221061-HP_0000006-GENCC_100009"	"HGNC:1573"	"KRIT1"	"MONDO:0031037"	"famililal cerebral cavernous malformations"	"Orphanet:221061"	"Orphanet:221061"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1573"	"KRIT1"	"Orphanet:221061"	"Familial cerebral cavernous malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301470[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16313"	"2021-09-14"
"GENCC_000110-HGNC_6412-Orphanet_312-HP_0000006-GENCC_100009"	"HGNC:6412"	"KRT1"	"MONDO:0007239"	"epidermolytic ichthyosis"	"Orphanet:312"	"Orphanet:312"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6412"	"KRT1"	"Orphanet:312"	"Autosomal dominant epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1380725[PMID]_7512983[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16314"	"2021-09-14"
"GENCC_000110-HGNC_6412-Orphanet_50942-HP_0000006-GENCC_100009"	"HGNC:6412"	"KRT1"	"MONDO:0018865"	"striate palmoplantar keratoderma"	"Orphanet:50942"	"Orphanet:50942"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6412"	"KRT1"	"Orphanet:50942"	"Striate palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11982762[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16314"	"2021-09-14"
"GENCC_000110-HGNC_6412-Orphanet_79503-HP_0000006-GENCC_100009"	"HGNC:6412"	"KRT1"	"MONDO:0007808"	"ichthyosis hystrix of Curth-Macklin"	"Orphanet:79503"	"Orphanet:79503"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6412"	"KRT1"	"Orphanet:79503"	"Ichthyosis hystrix of Curth-Macklin"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16314"	"2021-09-14"
"GENCC_000110-HGNC_6412-Orphanet_281139-HP_0000006-GENCC_100009"	"HGNC:6412"	"KRT1"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"Orphanet:281139"	"Orphanet:281139"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6412"	"KRT1"	"Orphanet:281139"	"Annular epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10053007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16314"	"2021-09-14"
"GENCC_000110-HGNC_6412-Orphanet_281190-HP_0000006-GENCC_100009"	"HGNC:6412"	"KRT1"	"MONDO:0012208"	"congenital reticular ichthyosiform erythroderma"	"Orphanet:281190"	"Orphanet:281190"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6412"	"KRT1"	"Orphanet:281190"	"Congenital reticular ichthyosiform erythroderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25774499[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16314"	"2021-09-14"
"GENCC_000110-HGNC_6412-Orphanet_530838-HP_0000006-GENCC_100009"	"HGNC:6412"	"KRT1"	"MONDO:0010962"	"diffuse nonepidermolytic palmoplantar keratoderma"	"Orphanet:530838"	"Orphanet:530838"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6412"	"KRT1"	"Orphanet:530838"	"KRT1-related diffuse nonepidermolytic keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29489036[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16314"	"2021-09-14"
"GENCC_000110-HGNC_6413-Orphanet_312-HP_0000006-GENCC_100009"	"HGNC:6413"	"KRT10"	"MONDO:0007239"	"epidermolytic ichthyosis"	"Orphanet:312"	"Orphanet:312"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6413"	"KRT10"	"Orphanet:312"	"Autosomal dominant epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1380725[PMID]_7512983[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16315"	"2021-09-14"
"GENCC_000110-HGNC_6413-Orphanet_281139-HP_0000006-GENCC_100009"	"HGNC:6413"	"KRT10"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"Orphanet:281139"	"Orphanet:281139"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6413"	"KRT10"	"Orphanet:281139"	"Annular epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9856845[PMID]_9036939[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16315"	"2021-09-14"
"GENCC_000110-HGNC_6413-Orphanet_281190-HP_0000006-GENCC_100009"	"HGNC:6413"	"KRT10"	"MONDO:0012208"	"congenital reticular ichthyosiform erythroderma"	"Orphanet:281190"	"Orphanet:281190"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6413"	"KRT10"	"Orphanet:281190"	"Congenital reticular ichthyosiform erythroderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20798280[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16315"	"2021-09-14"
"GENCC_000110-HGNC_6413-Orphanet_512103-HP_0000007-GENCC_100009"	"HGNC:6413"	"KRT10"	"MONDO:0044742"	"autosomal recessive epidermolytic ichthyosis"	"Orphanet:512103"	"Orphanet:512103"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6413"	"KRT10"	"Orphanet:512103"	"Autosomal recessive epidermolytic ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21271994[PMID]_23957016[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16315"	"2021-09-14"
"GENCC_000110-HGNC_6414-Orphanet_98954-HP_0000006-GENCC_100009"	"HGNC:6414"	"KRT12"	"MONDO:0007379"	"Meesmann corneal dystrophy"	"Orphanet:98954"	"Orphanet:98954"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6414"	"KRT12"	"Orphanet:98954"	"Meesmann corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9171831[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16316"	"2021-09-14"
"GENCC_000110-HGNC_6416-Orphanet_69087-HP_0000006-GENCC_100009"	"HGNC:6416"	"KRT14"	"MONDO:0008059"	"Naegeli-Franceschetti-Jadassohn syndrome"	"Orphanet:69087"	"Orphanet:69087"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6416"	"KRT14"	"Orphanet:69087"	"Naegeli-Franceschetti-Jadassohn syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16317"	"2021-09-14"
"GENCC_000110-HGNC_6416-Orphanet_79396-HP_0000006-GENCC_100009"	"HGNC:6416"	"KRT14"	"MONDO:0007550"	"epidermolysis bullosa simplex 1A, generalized severe"	"Orphanet:79396"	"Orphanet:79396"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6416"	"KRT14"	"Orphanet:79396"	"Autosomal dominant generalized epidermolysis bullosa simplex, severe form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16317"	"2021-09-14"
"GENCC_000110-HGNC_6416-Orphanet_79397-HP_0000006-GENCC_100009"	"HGNC:6416"	"KRT14"	"MONDO:0007556"	"epidermolysis bullosa simplex 2F, with mottled pigmentation"	"Orphanet:79397"	"Orphanet:79397"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6416"	"KRT14"	"Orphanet:79397"	"Epidermolysis bullosa simplex with mottled pigmentation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16601668[PMID]_20301543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16317"	"2021-09-14"
"GENCC_000110-HGNC_6416-Orphanet_79399-HP_0000006-GENCC_100009"	"HGNC:6416"	"KRT14"	"MONDO:0007554"	"epidermolysis bullosa simplex 1B, generalized intermediate"	"Orphanet:79399"	"Orphanet:79399"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6416"	"KRT14"	"Orphanet:79399"	"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16317"	"2021-09-14"
"GENCC_000110-HGNC_6416-Orphanet_79400-HP_0000006-GENCC_100009"	"HGNC:6416"	"KRT14"	"MONDO:0007551"	"epidermolysis bullosa simplex 1C, localized"	"Orphanet:79400"	"Orphanet:79400"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6416"	"KRT14"	"Orphanet:79400"	"Localized epidermolysis bullosa simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16317"	"2021-09-14"
"GENCC_000110-HGNC_6416-Orphanet_86920-HP_0000006-GENCC_100009"	"HGNC:6416"	"KRT14"	"MONDO:0007445"	"dermatopathia pigmentosa reticularis"	"Orphanet:86920"	"Orphanet:86920"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6416"	"KRT14"	"Orphanet:86920"	"Dermatopathia pigmentosa reticularis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16960809[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16317"	"2021-09-14"
"GENCC_000110-HGNC_6416-Orphanet_89838-HP_0000007-GENCC_100009"	"HGNC:6416"	"KRT14"	"MONDO:0010976"	"epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	"Orphanet:89838"	"Orphanet:89838"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6416"	"KRT14"	"Orphanet:89838"	"Autosomal recessive generalized epidermolysis bullosa simplex"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7526933[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16317"	"2021-09-14"
"GENCC_000110-HGNC_6423-Orphanet_2309-HP_0000006-GENCC_100009"	"HGNC:6423"	"KRT16"	"MONDO:0016471"	"pachyonychia congenita"	"Orphanet:2309"	"Orphanet:2309"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6423"	"KRT16"	"Orphanet:2309"	"Pachyonychia congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301457[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16318"	"2021-09-14"
"GENCC_000110-HGNC_6423-Orphanet_448264-HP_0000006-GENCC_100009"	"HGNC:6423"	"KRT16"	"MONDO:0014622"	"isolated focal non-epidermolytic palmoplantar keratoderma"	"Orphanet:448264"	"Orphanet:448264"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6423"	"KRT16"	"Orphanet:448264"	"Isolated focal non-epidermolytic palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8595410[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16318"	"2021-09-14"
"GENCC_000110-HGNC_6427-Orphanet_2309-HP_0000006-GENCC_100009"	"HGNC:6427"	"KRT17"	"MONDO:0016471"	"pachyonychia congenita"	"Orphanet:2309"	"Orphanet:2309"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6427"	"KRT17"	"Orphanet:2309"	"Pachyonychia congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301457[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16319"	"2021-09-14"
"GENCC_000110-HGNC_6427-Orphanet_841-HP_0000006-GENCC_100009"	"HGNC:6427"	"KRT17"	"MONDO:0008485"	"sebocystomatosis"	"Orphanet:841"	"Orphanet:841"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6427"	"KRT17"	"Orphanet:841"	"Sebocystomatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26165312[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16319"	"2021-09-14"
"GENCC_000110-HGNC_6439-Orphanet_455-HP_0000006-GENCC_100009"	"HGNC:6439"	"KRT2"	"MONDO:0007813"	"superficial epidermolytic ichthyosis"	"Orphanet:455"	"Orphanet:455"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6439"	"KRT2"	"Orphanet:455"	"Superficial epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15949009[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16320"	"2021-09-14"
"GENCC_000110-HGNC_6440-Orphanet_98954-HP_0000006-GENCC_100009"	"HGNC:6440"	"KRT3"	"MONDO:0007379"	"Meesmann corneal dystrophy"	"Orphanet:98954"	"Orphanet:98954"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6440"	"KRT3"	"Orphanet:98954"	"Meesmann corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9171831[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16321"	"2021-09-14"
"GENCC_000110-HGNC_6442-Orphanet_79145-HP_0000006-GENCC_100009"	"HGNC:6442"	"KRT5"	"MONDO:0008371"	"Dowling-Degos disease"	"Orphanet:79145"	"Orphanet:79145"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6442"	"KRT5"	"Orphanet:79145"	"Dowling-Degos disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16465624[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16322"	"2021-09-14"
"GENCC_000110-HGNC_6442-Orphanet_79396-HP_0000006-GENCC_100009"	"HGNC:6442"	"KRT5"	"MONDO:0007550"	"epidermolysis bullosa simplex 1A, generalized severe"	"Orphanet:79396"	"Orphanet:79396"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6442"	"KRT5"	"Orphanet:79396"	"Autosomal dominant generalized epidermolysis bullosa simplex, severe form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16322"	"2021-09-14"
"GENCC_000110-HGNC_6442-Orphanet_79397-HP_0000006-GENCC_100009"	"HGNC:6442"	"KRT5"	"MONDO:0007556"	"epidermolysis bullosa simplex 2F, with mottled pigmentation"	"Orphanet:79397"	"Orphanet:79397"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6442"	"KRT5"	"Orphanet:79397"	"Epidermolysis bullosa simplex with mottled pigmentation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16322"	"2021-09-14"
"GENCC_000110-HGNC_6442-Orphanet_79399-HP_0000006-GENCC_100009"	"HGNC:6442"	"KRT5"	"MONDO:0007554"	"epidermolysis bullosa simplex 1B, generalized intermediate"	"Orphanet:79399"	"Orphanet:79399"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6442"	"KRT5"	"Orphanet:79399"	"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16322"	"2021-09-14"
"GENCC_000110-HGNC_6442-Orphanet_79400-HP_0000006-GENCC_100009"	"HGNC:6442"	"KRT5"	"MONDO:0007551"	"epidermolysis bullosa simplex 1C, localized"	"Orphanet:79400"	"Orphanet:79400"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6442"	"KRT5"	"Orphanet:79400"	"Localized epidermolysis bullosa simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16322"	"2021-09-14"
"GENCC_000110-HGNC_6442-Orphanet_158681-HP_0000006-GENCC_100009"	"HGNC:6442"	"KRT5"	"MONDO:0012258"	"epidermolysis bullosa simplex 2E, with migratory circinate erythema"	"Orphanet:158681"	"Orphanet:158681"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6442"	"KRT5"	"Orphanet:158681"	"Epidermolysis bullosa simplex with circinate migratory erythema"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12925204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16322"	"2021-09-14"
"GENCC_000110-HGNC_6443-Orphanet_2309-HP_0000006-GENCC_100009"	"HGNC:6443"	"KRT6A"	"MONDO:0016471"	"pachyonychia congenita"	"Orphanet:2309"	"Orphanet:2309"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6443"	"KRT6A"	"Orphanet:2309"	"Pachyonychia congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301457[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16323"	"2021-09-14"
"GENCC_000110-HGNC_6444-Orphanet_2309-HP_0000006-GENCC_100009"	"HGNC:6444"	"KRT6B"	"MONDO:0016471"	"pachyonychia congenita"	"Orphanet:2309"	"Orphanet:2309"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6444"	"KRT6B"	"Orphanet:2309"	"Pachyonychia congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301457[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16324"	"2021-09-14"
"GENCC_000110-HGNC_6458-Orphanet_573-HP_0000006-GENCC_100009"	"HGNC:6458"	"KRT81"	"MONDO:0008009"	"monilethrix"	"Orphanet:573"	"Orphanet:573"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6458"	"KRT81"	"Orphanet:573"	"Monilethrix"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9402962[PMID]_9665406[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16325"	"2021-09-14"
"GENCC_000110-HGNC_6460-Orphanet_573-HP_0000006-GENCC_100009"	"HGNC:6460"	"KRT83"	"MONDO:0008009"	"monilethrix"	"Orphanet:573"	"Orphanet:573"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6460"	"KRT83"	"Orphanet:573"	"Monilethrix"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15744029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16326"	"2021-09-14"
"GENCC_000110-HGNC_6460-Orphanet_316-HP_0000006-GENCC_100009"	"HGNC:6460"	"KRT83"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"Orphanet:316"	"Orphanet:316"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6460"	"KRT83"	"Orphanet:316"	"Progressive symmetric erythrokeratodermia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27965375[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16326"	"2021-09-14"
"GENCC_000110-HGNC_6462-Orphanet_69084-HP_0000006-GENCC_100009"	"HGNC:6462"	"KRT85"	"MONDO:0019071"	"pure hair and nail ectodermal dysplasia"	"Orphanet:69084"	"Orphanet:69084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6462"	"KRT85"	"Orphanet:69084"	"Pure hair and nail ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16525032[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16327"	"2021-09-14"
"GENCC_000110-HGNC_6463-Orphanet_573-HP_0000006-GENCC_100009"	"HGNC:6463"	"KRT86"	"MONDO:0008009"	"monilethrix"	"Orphanet:573"	"Orphanet:573"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6463"	"KRT86"	"Orphanet:573"	"Monilethrix"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9241275[PMID]_22670615[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16328"	"2021-09-14"
"GENCC_000110-HGNC_6470-Orphanet_2182-HP_0001417-GENCC_100009"	"HGNC:6470"	"L1CAM"	"MONDO:0010611"	"X-linked hydrocephalus with stenosis of the aqueduct of Sylvius"	"Orphanet:2182"	"Orphanet:2182"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6470"	"L1CAM"	"Orphanet:2182"	"Hydrocephalus with stenosis of the aqueduct of Sylvius"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16330"	"2021-09-14"
"GENCC_000110-HGNC_6470-Orphanet_2466-HP_0001417-GENCC_100009"	"HGNC:6470"	"L1CAM"	"MONDO:0010559"	"MASA syndrome"	"Orphanet:2466"	"Orphanet:2466"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6470"	"L1CAM"	"Orphanet:2466"	"MASA syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16330"	"2021-09-14"
"GENCC_000110-HGNC_6470-Orphanet_1497-HP_0001417-GENCC_100009"	"HGNC:6470"	"L1CAM"	"MONDO:0010569"	"X-linked complicated corpus callosum dysgenesis"	"Orphanet:1497"	"Orphanet:1497"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6470"	"L1CAM"	"Orphanet:1497"	"X-linked complicated corpus callosum dysgenesis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16330"	"2021-09-14"
"GENCC_000110-HGNC_6470-Orphanet_306617-HP_0001417-GENCC_100009"	"HGNC:6470"	"L1CAM"	"MONDO:0017630"	"X-linked complicated spastic paraplegia type 1"	"Orphanet:306617"	"Orphanet:306617"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6470"	"L1CAM"	"Orphanet:306617"	"X-linked complicated spastic paraplegia type 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16330"	"2021-09-14"
"GENCC_000110-HGNC_20499-Orphanet_79314-HP_0000007-GENCC_100009"	"HGNC:20499"	"L2HGDH"	"MONDO:0009370"	"L-2-hydroxyglutaric aciduria"	"Orphanet:79314"	"Orphanet:79314"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20499"	"L2HGDH"	"Orphanet:79314"	"L-2-hydroxyglutaric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20052767[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16331"	"2021-09-14"
"GENCC_000110-HGNC_6482-Orphanet_258-HP_0000007-GENCC_100009"	"HGNC:6482"	"LAMA2"	"MONDO:0011925"	"congenital merosin-deficient muscular dystrophy 1A"	"Orphanet:258"	"Orphanet:258"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6482"	"LAMA2"	"Orphanet:258"	"Laminin subunit alpha 2-related congenital muscular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24223650[PMID]_22675738[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16332"	"2021-09-14"
"GENCC_000110-HGNC_6483-Orphanet_2407-HP_0000007-GENCC_100009"	"HGNC:6483"	"LAMA3"	"MONDO:0009513"	"laryngo-onycho-cutaneous syndrome"	"Orphanet:2407"	"Orphanet:2407"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6483"	"LAMA3"	"Orphanet:2407"	"Laryngo-onycho-cutaneous syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12915477[PMID]_23869449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16333"	"2021-09-14"
"GENCC_000110-HGNC_6483-Orphanet_79402-HP_0000007-GENCC_100009"	"HGNC:6483"	"LAMA3"	"MONDO:0019307"	"generalized junctional epidermolysis bullosa non-Herlitz type"	"Orphanet:79402"	"Orphanet:79402"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6483"	"LAMA3"	"Orphanet:79402"	"Intermediate generalized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16333"	"2021-09-14"
"GENCC_000110-HGNC_6483-Orphanet_79404-HP_0000007-GENCC_100009"	"HGNC:6483"	"LAMA3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"Orphanet:79404"	"Orphanet:79404"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6483"	"LAMA3"	"Orphanet:79404"	"Severe generalized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16333"	"2021-09-14"
"GENCC_000110-HGNC_6487-Orphanet_2670-HP_0000007-GENCC_100009"	"HGNC:6487"	"LAMB2"	"MONDO:0012184"	"Pierson syndrome"	"Orphanet:2670"	"Orphanet:2670"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6487"	"LAMB2"	"Orphanet:2670"	"Pierson syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24944146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16334"	"2021-09-14"
"GENCC_000110-HGNC_6490-Orphanet_79402-HP_0000007-GENCC_100009"	"HGNC:6490"	"LAMB3"	"MONDO:0019307"	"generalized junctional epidermolysis bullosa non-Herlitz type"	"Orphanet:79402"	"Orphanet:79402"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6490"	"LAMB3"	"Orphanet:79402"	"Intermediate generalized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16335"	"2021-09-14"
"GENCC_000110-HGNC_6490-Orphanet_79404-HP_0000007-GENCC_100009"	"HGNC:6490"	"LAMB3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"Orphanet:79404"	"Orphanet:79404"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6490"	"LAMB3"	"Orphanet:79404"	"Severe generalized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16335"	"2021-09-14"
"GENCC_000110-HGNC_6490-Orphanet_100031-HP_0000006-GENCC_100009"	"HGNC:6490"	"LAMB3"	"MONDO:0015047"	"amelogenesis imperfecta type 1"	"Orphanet:100031"	"Orphanet:100031"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6490"	"LAMB3"	"Orphanet:100031"	"Hypoplastic amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23632796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16335"	"2021-09-14"
"GENCC_000110-HGNC_6493-Orphanet_79402-HP_0000007-GENCC_100009"	"HGNC:6493"	"LAMC2"	"MONDO:0019307"	"generalized junctional epidermolysis bullosa non-Herlitz type"	"Orphanet:79402"	"Orphanet:79402"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6493"	"LAMC2"	"Orphanet:79402"	"Intermediate generalized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16336"	"2021-09-14"
"GENCC_000110-HGNC_6493-Orphanet_79404-HP_0000007-GENCC_100009"	"HGNC:6493"	"LAMC2"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"Orphanet:79404"	"Orphanet:79404"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6493"	"LAMC2"	"Orphanet:79404"	"Severe generalized junctional epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16336"	"2021-09-14"
"GENCC_000110-HGNC_6501-Orphanet_34587-HP_0001417-GENCC_100009"	"HGNC:6501"	"LAMP2"	"MONDO:0010281"	"Danon disease"	"Orphanet:34587"	"Orphanet:34587"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6501"	"LAMP2"	"Orphanet:34587"	"Glycogen storage disease due to LAMP-2 deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16337"	"2021-09-14"
"GENCC_000110-HGNC_6511-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:6511"	"LARGE1"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6511"	"LARGE1"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21727005[PMID]_19299310[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16338"	"2021-09-14"
"GENCC_000110-HGNC_6511-Orphanet_370968-HP_0000007-GENCC_100009"	"HGNC:6511"	"LARGE1"	"MONDO:0018278"	"congenital muscular dystrophy with intellectual disability"	"Orphanet:370968"	"Orphanet:370968"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6511"	"LARGE1"	"Orphanet:370968"	"Congenital muscular dystrophy with intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16338"	"2021-09-14"
"GENCC_000110-HGNC_6518-Orphanet_1426-HP_0000007-GENCC_100009"	"HGNC:6518"	"LBR"	"MONDO:0008974"	"Greenberg dysplasia"	"Orphanet:1426"	"Orphanet:1426"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6518"	"LBR"	"Orphanet:1426"	"Greenberg dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21327084[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16340"	"2021-09-14"
"GENCC_000110-HGNC_6518-Orphanet_448267-HP_0000007-GENCC_100009"	"HGNC:6518"	"LBR"	"MONDO:0018663"	"regressive spondylometaphyseal dysplasia"	"Orphanet:448267"	"Orphanet:448267"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6518"	"LBR"	"Orphanet:448267"	"Regressive spondylometaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25348816[PMID]_23824842[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16340"	"2021-09-14"
"GENCC_000110-HGNC_6522-Orphanet_79292-HP_0000007-GENCC_100009"	"HGNC:6522"	"LCAT"	"MONDO:0007620"	"fish eye disease"	"Orphanet:79292"	"Orphanet:79292"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6522"	"LCAT"	"Orphanet:79292"	"Fish-eye disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9162740[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16341"	"2021-09-14"
"GENCC_000110-HGNC_6522-Orphanet_79293-HP_0000007-GENCC_100009"	"HGNC:6522"	"LCAT"	"MONDO:0009515"	"Norum disease"	"Orphanet:79293"	"Orphanet:79293"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6522"	"LCAT"	"Orphanet:79293"	"Familial LCAT deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9162740[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16341"	"2021-09-14"
"GENCC_000110-HGNC_6530-Orphanet_53690-HP_0000007-GENCC_100009"	"HGNC:6530"	"LCT"	"MONDO:0009115"	"congenital lactase deficiency"	"Orphanet:53690"	"Orphanet:53690"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6530"	"LCT"	"Orphanet:53690"	"Congenital lactase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16400612[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16342"	"2021-09-14"
"GENCC_000110-HGNC_15710-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:15710"	"LDB3"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15710"	"LDB3"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14662268[PMID]_14660611[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16343"	"2021-09-14"
"GENCC_000110-HGNC_6535-Orphanet_284426-HP_0000007-GENCC_100009"	"HGNC:6535"	"LDHA"	"MONDO:0013047"	"glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"	"Orphanet:284426"	"Orphanet:284426"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6535"	"LDHA"	"Orphanet:284426"	"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16344"	"2021-09-14"
"GENCC_000110-HGNC_6541-Orphanet_284435-HP_0000006-GENCC_100009"	"HGNC:6541"	"LDHB"	"MONDO:0013587"	"glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"	"Orphanet:284435"	"Orphanet:284435"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6541"	"LDHB"	"Orphanet:284435"	"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16345"	"2021-09-14"
"GENCC_000110-HGNC_6547-Orphanet_391665-HP_0000007-GENCC_100009"	"HGNC:6547"	"LDLR"	"MONDO:0018328"	"homozygous familial hypercholesterolemia"	"Orphanet:391665"	"Orphanet:391665"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6547"	"LDLR"	"Orphanet:391665"	"Homozygous familial hypercholesterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24404629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16347"	"2021-09-14"
"GENCC_000110-HGNC_18640-Orphanet_391665-HP_0000007-GENCC_100009"	"HGNC:18640"	"LDLRAP1"	"MONDO:0018328"	"homozygous familial hypercholesterolemia"	"Orphanet:391665"	"Orphanet:391665"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18640"	"LDLRAP1"	"Orphanet:391665"	"Homozygous familial hypercholesterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11326085[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16348"	"2021-09-14"
"GENCC_000110-HGNC_28887-Orphanet_1879-HP_0000006-GENCC_100009"	"HGNC:28887"	"LEMD3"	"MONDO:0015995"	"melorheostosis with osteopoikilosis"	"Orphanet:1879"	"Orphanet:1879"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28887"	"LEMD3"	"Orphanet:1879"	"Melorheostosis with osteopoikilosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15489854[PMID]_17087626[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16349"	"2021-09-14"
"GENCC_000110-HGNC_28887-Orphanet_1306-HP_0000006-GENCC_100009"	"HGNC:28887"	"LEMD3"	"MONDO:0008157"	"Buschke-Ollendorff syndrome"	"Orphanet:1306"	"Orphanet:1306"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28887"	"LEMD3"	"Orphanet:1306"	"Buschke-Ollendorff syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15489854[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16349"	"2021-09-14"
"GENCC_000110-HGNC_28887-Orphanet_166119-HP_0000006-GENCC_100009"	"HGNC:28887"	"LEMD3"	"MONDO:0015634"	"isolated osteopoikilosis"	"Orphanet:166119"	"Orphanet:166119"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28887"	"LEMD3"	"Orphanet:166119"	"Isolated osteopoikilosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26694706[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16349"	"2021-09-14"
"GENCC_000110-HGNC_6553-Orphanet_66628-HP_0000007-GENCC_100009"	"HGNC:6553"	"LEP"	"MONDO:0013991"	"obesity due to congenital leptin deficiency"	"Orphanet:66628"	"Orphanet:66628"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6553"	"LEP"	"Orphanet:66628"	"Obesity due to congenital leptin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26567097[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16350"	"2021-09-14"
"GENCC_000110-HGNC_6554-Orphanet_179494-HP_0000007-GENCC_100009"	"HGNC:6554"	"LEPR"	"MONDO:0013992"	"obesity due to leptin receptor gene deficiency"	"Orphanet:179494"	"Orphanet:179494"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6554"	"LEPR"	"Orphanet:179494"	"Obesity due to leptin receptor gene deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9537324[PMID]_17229951[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16351"	"2021-09-14"
"GENCC_000110-HGNC_6572-Orphanet_101046-HP_0000006-GENCC_100009"	"HGNC:6572"	"LGI1"	"MONDO:0010898"	"autosomal dominant epilepsy with auditory features"	"Orphanet:101046"	"Orphanet:101046"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6572"	"LGI1"	"Orphanet:101046"	"Autosomal dominant epilepsy with auditory features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12601709[PMID]_20301709[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16352"	"2021-09-14"
"GENCC_000110-HGNC_6585-Orphanet_3000-HP_0000006-GENCC_100009"	"HGNC:6585"	"LHCGR"	"MONDO:0008303"	"familial male-limited precocious puberty"	"Orphanet:3000"	"Orphanet:3000"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6585"	"LHCGR"	"Orphanet:3000"	"Familial male-limited precocious puberty"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16354"	"2021-09-14"
"GENCC_000110-HGNC_6595-Orphanet_226307-HP_0000006-GENCC_100009"	"HGNC:6595"	"LHX3"	"MONDO:0016411"	"hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"Orphanet:226307"	"Orphanet:226307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6595"	"LHX3"	"Orphanet:226307"	"Hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_22851492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16355"	"2021-09-14"
"GENCC_000110-HGNC_6595-Orphanet_231720-HP_0000007-GENCC_100009"	"HGNC:6595"	"LHX3"	"MONDO:0009091"	"non-acquired combined pituitary hormone deficiency with spine abnormalities"	"Orphanet:231720"	"Orphanet:231720"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6595"	"LHX3"	"Orphanet:231720"	"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10835633[PMID]_19762173[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16355"	"2021-09-14"
"GENCC_000110-HGNC_6597-Orphanet_3206-HP_0000007-GENCC_100009"	"HGNC:6597"	"LIFR"	"MONDO:0011108"	"Stüve-Wiedemann syndrome"	"Orphanet:3206"	"Orphanet:3206"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6597"	"LIFR"	"Orphanet:3206"	"St³ve-Wiedemann syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24618404[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16356"	"2021-09-14"
"GENCC_000110-HGNC_6601-Orphanet_235-HP_0000007-GENCC_100009"	"HGNC:6601"	"LIG4"	"MONDO:0009124"	"Dubowitz syndrome"	"Orphanet:235"	"Orphanet:235"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6601"	"LIG4"	"Orphanet:235"	"Dubowitz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24892279[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16357"	"2021-09-14"
"GENCC_000110-HGNC_6601-Orphanet_39041-HP_0000007-GENCC_100009"	"HGNC:6601"	"LIG4"	"MONDO:0011338"	"Omenn syndrome"	"Orphanet:39041"	"Orphanet:39041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6601"	"LIG4"	"Orphanet:39041"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16357"	"2021-09-14"
"GENCC_000110-HGNC_6601-Orphanet_99812-HP_0000007-GENCC_100009"	"HGNC:6601"	"LIG4"	"MONDO:0011686"	"DNA ligase IV deficiency"	"Orphanet:99812"	"Orphanet:99812"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6601"	"LIG4"	"Orphanet:99812"	"LIG4 syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23372718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16357"	"2021-09-14"
"GENCC_000110-HGNC_6617-Orphanet_75233-HP_0000007-GENCC_100009"	"HGNC:6617"	"LIPA"	"MONDO:0019148"	"Wolman disease"	"Orphanet:75233"	"Orphanet:75233"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6617"	"LIPA"	"Orphanet:75233"	"Wolman disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22227072[PMID]_26225414[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16359"	"2021-09-14"
"GENCC_000110-HGNC_6617-Orphanet_75234-HP_0000007-GENCC_100009"	"HGNC:6617"	"LIPA"	"MONDO:0019149"	"cholesteryl ester storage disease"	"Orphanet:75234"	"Orphanet:75234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6617"	"LIPA"	"Orphanet:75234"	"Cholesteryl ester storage disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22227072[PMID]_26225414[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16359"	"2021-09-14"
"GENCC_000110-HGNC_16841-Orphanet_101083-HP_0000006-GENCC_100009"	"HGNC:16841"	"LITAF"	"MONDO:0010995"	"Charcot-Marie-Tooth disease type 1C"	"Orphanet:101083"	"Orphanet:101083"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16841"	"LITAF"	"Orphanet:101083"	"Charcot-Marie-Tooth disease type 1C"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16361"	"2021-09-14"
"GENCC_000110-HGNC_6631-Orphanet_35909-HP_0000007-GENCC_100009"	"HGNC:6631"	"LMAN1"	"MONDO:0018175"	"combined deficiency of factor V and factor VIII"	"Orphanet:35909"	"Orphanet:35909"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6631"	"LMAN1"	"Orphanet:35909"	"Combined deficiency of factor V and factor VIII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9546392[PMID]_16304051[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16362"	"2021-09-14"
"GENCC_000110-HGNC_13243-Orphanet_931-HP_0000007-GENCC_100009"	"HGNC:13243"	"LMBR1"	"MONDO:0008700"	"acheiropody"	"Orphanet:931"	"Orphanet:931"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13243"	"LMBR1"	"Orphanet:931"	"Acheiropodia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11090342[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16363"	"2021-09-14"
"GENCC_000110-HGNC_13243-Orphanet_2378-HP_0000006-GENCC_100009"	"HGNC:13243"	"LMBR1"	"MONDO:0007615"	"laurin-Sandrow syndrome"	"Orphanet:2378"	"Orphanet:2378"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13243"	"LMBR1"	"Orphanet:2378"	"Laurin-Sandrow syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24456159[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16363"	"2021-09-14"
"GENCC_000110-HGNC_13243-Orphanet_2950-HP_0000006-GENCC_100009"	"HGNC:13243"	"LMBR1"	"MONDO:0017454"	"triphalangeal thumb-polysyndactyly syndrome"	"Orphanet:2950"	"Orphanet:2950"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13243"	"LMBR1"	"Orphanet:2950"	"Triphalangeal thumb-polysyndactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18178630[PMID]_19847792[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16363"	"2021-09-14"
"GENCC_000110-HGNC_13243-Orphanet_3332-HP_0000006-GENCC_100009"	"HGNC:13243"	"LMBR1"	"MONDO:0018052"	"hypoplastic tibiae-postaxial polydactyly syndrome"	"Orphanet:3332"	"Orphanet:3332"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13243"	"LMBR1"	"Orphanet:3332"	"Hypoplastic tibiae-postaxial polydactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19847792[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16363"	"2021-09-14"
"GENCC_000110-HGNC_13243-Orphanet_93336-HP_0000006-GENCC_100009"	"HGNC:13243"	"LMBR1"	"MONDO:0008270"	"polydactyly of a triphalangeal thumb"	"Orphanet:93336"	"Orphanet:93336"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13243"	"LMBR1"	"Orphanet:93336"	"Polydactyly of a triphalangeal thumb"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26394607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16363"	"2021-09-14"
"GENCC_000110-HGNC_13243-Orphanet_93405-HP_0000006-GENCC_100009"	"HGNC:13243"	"LMBR1"	"MONDO:0008515"	"syndactyly type 4"	"Orphanet:93405"	"Orphanet:93405"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13243"	"LMBR1"	"Orphanet:93405"	"Syndactyly type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24456159[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16363"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24846508[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_1662-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0010143"	"lethal restrictive dermopathy"	"Orphanet:1662"	"Orphanet:1662"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:1662"	"Restrictive dermopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18470519[PMID]_19020898[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_2229-HP_0000007-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0008915"	"dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"	"Orphanet:2229"	"Orphanet:2229"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:2229"	"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19283854[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_2348-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0007906"	"familial partial lipodystrophy, Dunnigan type"	"Orphanet:2348"	"Orphanet:2348"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:2348"	"Familial partial lipodystrophy, Dunnigan type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10739751[PMID]_10587585[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_740-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0008310"	"Hutchinson-Gilford progeria syndrome"	"Orphanet:740"	"Orphanet:740"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:740"	"Hutchinson-Gilford progeria syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_79474-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0019321"	"atypical Werner syndrome"	"Orphanet:79474"	"Orphanet:79474"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:79474"	"Atypical Werner syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12927431[PMID]_19270485[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_90153-HP_0000007-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0009557"	"mandibuloacral dysplasia with type A lipodystrophy"	"Orphanet:90153"	"Orphanet:90153"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:90153"	"Mandibuloacral dysplasia with type A lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12075506[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_98853-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0020336"	"autosomal dominant Emery-Dreifuss muscular dystrophy"	"Orphanet:98853"	"Orphanet:98853"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:98853"	"Autosomal dominant Emery-Dreifuss muscular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_98855-HP_0000007-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0008406"	"autosomal recessive Emery-Dreifuss muscular dystrophy"	"Orphanet:98855"	"Orphanet:98855"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:98855"	"Autosomal recessive Emery-Dreifuss muscular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_98856-HP_0000007-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0011569"	"Charcot-Marie-Tooth disease type 2B1"	"Orphanet:98856"	"Orphanet:98856"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:98856"	"Charcot-Marie-Tooth disease type 2B1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_157973-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0013178"	"congenital muscular dystrophy due to LMNA mutation"	"Orphanet:157973"	"Orphanet:157973"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:157973"	"Congenital muscular dystrophy due to LMNA mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18551513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_168796-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0012417"	"heart-hand syndrome, Slovenian type"	"Orphanet:168796"	"Orphanet:168796"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:168796"	"Heart-hand syndrome, Slovenian type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18611980[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_280365-HP_0032113-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0017230"	"autosomal semi-dominant severe lipodystrophic laminopathy"	"Orphanet:280365"	"Orphanet:280365"	"GENCC:100009"	"Supportive"	"HP:0032113"	"Semidominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:280365"	"Autosomal semi-dominant severe lipodystrophic laminopathy"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21346069[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_300751-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0007269"	"dilated cardiomyopathy 1A"	"Orphanet:300751"	"Orphanet:300751"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:300751"	"Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301717[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6636-Orphanet_363618-HP_0000006-GENCC_100009"	"HGNC:6636"	"LMNA"	"MONDO:0018203"	"LMNA-related cardiocutaneous progeria syndrome"	"Orphanet:363618"	"Orphanet:363618"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6636"	"LMNA"	"Orphanet:363618"	"LMNA-related cardiocutaneous progeria syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23666920[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16364"	"2021-09-14"
"GENCC_000110-HGNC_6637-Orphanet_2514-HP_0000006-GENCC_100009"	"HGNC:6637"	"LMNB1"	"MONDO:0007988"	"autosomal dominant primary microcephaly"	"Orphanet:2514"	"Orphanet:2514"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6637"	"LMNB1"	"Orphanet:2514"	"Autosomal dominant primary microcephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32910914[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16365"	"2021-09-14"
"GENCC_000110-HGNC_6637-Orphanet_99027-HP_0000006-GENCC_100009"	"HGNC:6637"	"LMNB1"	"MONDO:0008215"	"adult-onset autosomal dominant demyelinating leukodystrophy"	"Orphanet:99027"	"Orphanet:99027"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6637"	"LMNB1"	"Orphanet:99027"	"Adult-onset autosomal dominant leukodystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24501781[PMID]_23649844[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16365"	"2021-09-14"
"GENCC_000110-HGNC_6654-Orphanet_2614-HP_0000006-GENCC_100009"	"HGNC:6654"	"LMX1B"	"MONDO:0008061"	"nail-patella syndrome"	"Orphanet:2614"	"Orphanet:2614"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6654"	"LMX1B"	"Orphanet:2614"	"Nail-patella syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301311[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16367"	"2021-09-14"
"GENCC_000110-HGNC_6654-Orphanet_2613-HP_0000006-GENCC_100009"	"HGNC:6654"	"LMX1B"	"MONDO:0009724"	"nail-patella-like renal disease"	"Orphanet:2613"	"Orphanet:2613"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6654"	"LMX1B"	"Orphanet:2613"	"Nail-patella-like renal disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25713721[PMID]_24042019[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16367"	"2021-09-14"
"GENCC_000110-HGNC_6663-Orphanet_79395-HP_0000006-GENCC_100009"	"HGNC:6663"	"LORICRIN"	"MONDO:0011396"	"loricrin keratoderma"	"Orphanet:79395"	"Orphanet:79395"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6663"	"LORICRIN"	"Orphanet:79395"	"Keratoderma hereditarium mutilans with ichthyosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17953701[PMID]_12072018[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16368"	"2021-09-14"
"GENCC_000110-HGNC_14450-Orphanet_77297-HP_0000007-GENCC_100009"	"HGNC:14450"	"LPIN2"	"MONDO:0012316"	"Majeed syndrome"	"Orphanet:77297"	"Orphanet:77297"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14450"	"LPIN2"	"Orphanet:77297"	"Majeed syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16370"	"2021-09-14"
"GENCC_000110-HGNC_6697-Orphanet_2783-HP_0000006-GENCC_100009"	"HGNC:6697"	"LRP5"	"MONDO:0011877"	"autosomal dominant osteopetrosis 1"	"Orphanet:2783"	"Orphanet:2783"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6697"	"LRP5"	"Orphanet:2783"	"Autosomal dominant osteopetrosis type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21600326[PMID]_12579474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16372"	"2021-09-14"
"GENCC_000110-HGNC_6697-Orphanet_2788-HP_0000007-GENCC_100009"	"HGNC:6697"	"LRP5"	"MONDO:0009820"	"osteoporosis-pseudoglioma syndrome"	"Orphanet:2788"	"Orphanet:2788"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6697"	"LRP5"	"Orphanet:2788"	"Osteoporosis-pseudoglioma syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21407258[PMID]_16679074[PMID]_16252235[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16372"	"2021-09-14"
"GENCC_000110-HGNC_6697-Orphanet_2790-HP_0000006-GENCC_100009"	"HGNC:6697"	"LRP5"	"MONDO:0007764"	"autosomal dominant osteosclerosis, Worth type"	"Orphanet:2790"	"Orphanet:2790"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6697"	"LRP5"	"Orphanet:2790"	"Endosteal hyperostosis, Worth type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12579474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16372"	"2021-09-14"
"GENCC_000110-HGNC_6697-Orphanet_2924-HP_0000006-GENCC_100009"	"HGNC:6697"	"LRP5"	"MONDO:0008265"	"polycystic liver disease 1"	"Orphanet:2924"	"Orphanet:2924"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6697"	"LRP5"	"Orphanet:2924"	"Isolated polycystic liver disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24706814[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16372"	"2021-09-14"
"GENCC_000110-HGNC_6697-Orphanet_3416-HP_0000006-GENCC_100009"	"HGNC:6697"	"LRP5"	"MONDO:0009395"	"hyperostosis corticalis generalisata"	"Orphanet:3416"	"Orphanet:3416"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6697"	"LRP5"	"Orphanet:3416"	"Hyperostosis corticalis generalisata"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12579474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16372"	"2021-09-14"
"GENCC_000110-HGNC_6697-Orphanet_891-HP_0000006-GENCC_100009"	"HGNC:6697"	"LRP5"	"MONDO:0019516"	"exudative vitreoretinopathy"	"Orphanet:891"	"Orphanet:891"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6697"	"LRP5"	"Orphanet:891"	"Familial exudative vitreoretinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301326[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16372"	"2021-09-14"
"GENCC_000110-HGNC_6697-Orphanet_178377-HP_0000006-GENCC_100009"	"HGNC:6697"	"LRP5"	"MONDO:0015800"	"osteosclerosis-developmental delay-craniosynostosis syndrome"	"Orphanet:178377"	"Orphanet:178377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6697"	"LRP5"	"Orphanet:178377"	"Osteosclerosis-developmental delay-craniosynostosis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15940380[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16372"	"2021-09-14"
"GENCC_000110-HGNC_15714-Orphanet_70472-HP_0000007-GENCC_100009"	"HGNC:15714"	"LRPPRC"	"MONDO:0009069"	"congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"	"Orphanet:70472"	"Orphanet:70472"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15714"	"LRPPRC"	"Orphanet:70472"	"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12529507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16373"	"2021-09-14"
"GENCC_000110-HGNC_19027-Orphanet_33110-HP_0000006-GENCC_100009"	"HGNC:19027"	"LRRC8A"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"Orphanet:33110"	"Orphanet:33110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19027"	"LRRC8A"	"Orphanet:33110"	"Autosomal agammaglobulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14660746[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16374"	"2021-09-14"
"GENCC_000110-HGNC_6831-Orphanet_118-HP_0000007-GENCC_100009"	"HGNC:6831"	"MANBA"	"MONDO:0009562"	"beta-mannosidosis"	"Orphanet:118"	"Orphanet:118"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6831"	"MANBA"	"Orphanet:118"	"Beta-mannosidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18980795[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16375"	"2021-09-14"
"GENCC_000110-HGNC_6833-Orphanet_3057-HP_0001417-GENCC_100009"	"HGNC:6833"	"MAOA"	"MONDO:0010379"	"Brunner syndrome"	"Orphanet:3057"	"Orphanet:3057"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6833"	"MAOA"	"Orphanet:3057"	"Monoamine oxidase A deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8211186[PMID]_24169519[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16376"	"2021-09-14"
"GENCC_000110-HGNC_6840-Orphanet_1340-HP_0000006-GENCC_100009"	"HGNC:6840"	"MAP2K1"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"Orphanet:1340"	"Orphanet:1340"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6840"	"MAP2K1"	"Orphanet:1340"	"Cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301365[PMID]_16825433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16377"	"2021-09-14"
"GENCC_000110-HGNC_6842-Orphanet_638-HP_0000006-GENCC_100009"	"HGNC:6842"	"MAP2K2"	"MONDO:0011035"	"neurofibromatosis-Noonan syndrome"	"Orphanet:638"	"Orphanet:638"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6842"	"MAP2K2"	"Orphanet:638"	"Neurofibromatosis-Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24311457[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16378"	"2021-09-14"
"GENCC_000110-HGNC_6842-Orphanet_1340-HP_0000006-GENCC_100009"	"HGNC:6842"	"MAP2K2"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"Orphanet:1340"	"Orphanet:1340"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6842"	"MAP2K2"	"Orphanet:1340"	"Cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301365[PMID]_16825433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16378"	"2021-09-14"
"GENCC_000110-HGNC_19042-Orphanet_168629-HP_0000006-GENCC_100009"	"HGNC:19042"	"MASTL"	"MONDO:0015679"	"autosomal thrombocytopenia with normal platelets"	"Orphanet:168629"	"Orphanet:168629"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19042"	"MASTL"	"Orphanet:168629"	"Autosomal thrombocytopenia with normal platelets"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12890928[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16380"	"2021-09-14"
"GENCC_000110-HGNC_6909-Orphanet_93311-HP_0000006-GENCC_100009"	"HGNC:6909"	"MATN3"	"MONDO:0011765"	"multiple epiphyseal dysplasia type 5"	"Orphanet:93311"	"Orphanet:93311"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6909"	"MATN3"	"Orphanet:93311"	"Multiple epiphyseal dysplasia type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16381"	"2021-09-14"
"GENCC_000110-HGNC_6909-Orphanet_156728-HP_0000007-GENCC_100009"	"HGNC:6909"	"MATN3"	"MONDO:0012108"	"spondyloepimetaphyseal dysplasia, matrilin-3 type"	"Orphanet:156728"	"Orphanet:156728"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6909"	"MATN3"	"Orphanet:156728"	"Spondyloepimetaphyseal dysplasia, matrilin-3 type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15121775[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16381"	"2021-09-14"
"GENCC_000110-HGNC_6930-Orphanet_361-HP_0000007-GENCC_100009"	"HGNC:6930"	"MC2R"	"MONDO:0008733"	"familial glucocorticoid deficiency"	"Orphanet:361"	"Orphanet:361"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6930"	"MC2R"	"Orphanet:361"	"Familial glucocorticoid deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8069303[PMID]_17128564[PMID]_18492762[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16382"	"2021-09-14"
"GENCC_000110-HGNC_6936-Orphanet_6-HP_0000007-GENCC_100009"	"HGNC:6936"	"MCCC1"	"MONDO:0018950"	"3-methylcrotonyl-CoA carboxylase deficiency"	"Orphanet:6"	"Orphanet:6"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6936"	"MCCC1"	"Orphanet:6"	"3-methylcrotonyl-CoA carboxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22642865[PMID]_22264772[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16383"	"2021-09-14"
"GENCC_000110-HGNC_6937-Orphanet_6-HP_0000007-GENCC_100009"	"HGNC:6937"	"MCCC2"	"MONDO:0018950"	"3-methylcrotonyl-CoA carboxylase deficiency"	"Orphanet:6"	"Orphanet:6"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6937"	"MCCC2"	"Orphanet:6"	"3-methylcrotonyl-CoA carboxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22642865[PMID]_22264772[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16384"	"2021-09-14"
"GENCC_000110-HGNC_18451-Orphanet_35909-HP_0000007-GENCC_100009"	"HGNC:18451"	"MCFD2"	"MONDO:0018175"	"combined deficiency of factor V and factor VIII"	"Orphanet:35909"	"Orphanet:35909"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18451"	"MCFD2"	"Orphanet:35909"	"Combined deficiency of factor V and factor VIII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12717434[PMID]_16304051[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16385"	"2021-09-14"
"GENCC_000110-HGNC_13356-Orphanet_578-HP_0000007-GENCC_100009"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"mucolipidosis type IV"	"Orphanet:578"	"Orphanet:578"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13356"	"MCOLN1"	"Orphanet:578"	"Mucolipidosis type IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21763169[PMID]_21224396[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16386"	"2021-09-14"
"GENCC_000110-HGNC_6954-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:6954"	"MCPH1"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6954"	"MCPH1"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16387"	"2021-09-14"
"GENCC_000110-HGNC_6990-Orphanet_778-HP_0001417-GENCC_100009"	"HGNC:6990"	"MECP2"	"MONDO:0010726"	"Rett syndrome"	"Orphanet:778"	"Orphanet:778"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6990"	"MECP2"	"Orphanet:778"	"Rett syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301670[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16388"	"2021-09-14"
"GENCC_000110-HGNC_6990-Orphanet_3077-HP_0001417-GENCC_100009"	"HGNC:6990"	"MECP2"	"MONDO:0010235"	"X-linked intellectual disability-psychosis-macroorchidism syndrome"	"Orphanet:3077"	"Orphanet:3077"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6990"	"MECP2"	"Orphanet:3077"	"X-linked intellectual disability-psychosis-macroorchidism syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11885030[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16388"	"2021-09-14"
"GENCC_000110-HGNC_6990-Orphanet_3095-HP_0000006-GENCC_100009"	"HGNC:6990"	"MECP2"	"MONDO:0017746"	"atypical Rett syndrome"	"Orphanet:3095"	"Orphanet:3095"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6990"	"MECP2"	"Orphanet:3095"	"Atypical Rett syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301670[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16388"	"2021-09-14"
"GENCC_000110-HGNC_6990-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:6990"	"MECP2"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6990"	"MECP2"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11309367[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16388"	"2021-09-14"
"GENCC_000110-HGNC_6990-Orphanet_209370-HP_0001417-GENCC_100009"	"HGNC:6990"	"MECP2"	"MONDO:0010397"	"severe neonatal-onset encephalopathy with microcephaly"	"Orphanet:209370"	"Orphanet:209370"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:6990"	"MECP2"	"Orphanet:209370"	"Severe neonatal-onset encephalopathy with microcephaly"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18477000[PMID]_20301670[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16388"	"2021-09-14"
"GENCC_000110-HGNC_6998-Orphanet_342-HP_0000006-GENCC_100009"	"HGNC:6998"	"MEFV"	"MONDO:0018088"	"familial Mediterranean fever"	"Orphanet:342"	"Orphanet:342"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6998"	"MEFV"	"Orphanet:342"	"Familial Mediterranean fever"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16389"	"2021-09-14"
"GENCC_000110-HGNC_7010-Orphanet_652-HP_0000006-GENCC_100009"	"HGNC:7010"	"MEN1"	"MONDO:0007540"	"multiple endocrine neoplasia type 1"	"Orphanet:652"	"Orphanet:652"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7010"	"MEN1"	"Orphanet:652"	"Multiple endocrine neoplasia type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301710[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16390"	"2021-09-14"
"GENCC_000110-HGNC_7010-Orphanet_99725-HP_0000006-GENCC_100009"	"HGNC:7010"	"MEN1"	"MONDO:0020479"	"pituitary gigantism"	"Orphanet:99725"	"Orphanet:99725"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7010"	"MEN1"	"Orphanet:99725"	"Pituitary gigantism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26187128[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16390"	"2021-09-14"
"GENCC_000110-HGNC_7010-Orphanet_99879-HP_0000006-GENCC_100009"	"HGNC:7010"	"MEN1"	"MONDO:0015027"	"familial isolated hyperparathyroidism"	"Orphanet:99879"	"Orphanet:99879"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7010"	"MEN1"	"Orphanet:99879"	"Familial isolated hyperparathyroidism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9792884[PMID]_10664521[PMID]_12699448[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16390"	"2021-09-14"
"GENCC_000110-HGNC_7027-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:7027"	"MERTK"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7027"	"MERTK"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16391"	"2021-09-14"
"GENCC_000110-HGNC_7029-Orphanet_47044-HP_0000006-GENCC_100009"	"HGNC:7029"	"MET"	"MONDO:0017884"	"papillary renal cell carcinoma"	"Orphanet:47044"	"Orphanet:47044"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7029"	"MET"	"Orphanet:47044"	"Hereditary papillary renal cell carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16392"	"2021-09-14"
"GENCC_000110-HGNC_7029-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:7029"	"MET"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7029"	"MET"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25941349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16392"	"2021-09-14"
"GENCC_000110-HGNC_7029-Orphanet_488265-HP_0000006-GENCC_100009"	"HGNC:7029"	"MET"	"MONDO:0011806"	"osteofibrous dysplasia"	"Orphanet:488265"	"Orphanet:488265"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7029"	"MET"	"Orphanet:488265"	"Osteofibrous dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26637977[PMID]_8276381[PMID]_9234973[PMID]_1270474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16392"	"2021-09-14"
"GENCC_000110-HGNC_16877-Orphanet_2398-HP_0000006-GENCC_100009"	"HGNC:16877"	"MFN2"	"MONDO:0007908"	"multiple symmetric lipomatosis"	"Orphanet:2398"	"Orphanet:2398"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16877"	"MFN2"	"Orphanet:2398"	"Multiple symmetric lipomatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26085578[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16394"	"2021-09-14"
"GENCC_000110-HGNC_16877-Orphanet_90118-HP_0000007-GENCC_100009"	"HGNC:16877"	"MFN2"	"MONDO:0019549"	"severe early-onset axonal neuropathy due to MFN2 deficiency"	"Orphanet:90118"	"Orphanet:90118"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16877"	"MFN2"	"Orphanet:90118"	"Severe early-onset axonal neuropathy due to MFN2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16394"	"2021-09-14"
"GENCC_000110-HGNC_16877-Orphanet_90120-HP_0000006-GENCC_100009"	"HGNC:16877"	"MFN2"	"MONDO:0019551"	"hereditary motor and sensory neuropathy type 6"	"Orphanet:90120"	"Orphanet:90120"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16877"	"MFN2"	"Orphanet:90120"	"Hereditary motor and sensory neuropathy type 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16437557[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16394"	"2021-09-14"
"GENCC_000110-HGNC_16877-Orphanet_99947-HP_0000006-GENCC_100009"	"HGNC:16877"	"MFN2"	"MONDO:0012231"	"Charcot-Marie-Tooth disease type 2A2"	"Orphanet:99947"	"Orphanet:99947"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16877"	"MFN2"	"Orphanet:99947"	"Autosomal dominant Charcot-Marie-Tooth disease type 2A2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16394"	"2021-09-14"
"GENCC_000110-HGNC_18121-Orphanet_35612-HP_0000006-GENCC_100009"	"HGNC:18121"	"MFRP"	"MONDO:0005514"	"nanophthalmia"	"Orphanet:35612"	"Orphanet:35612"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18121"	"MFRP"	"Orphanet:35612"	"Nanophthalmos"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15976030[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16395"	"2021-09-14"
"GENCC_000110-HGNC_18121-Orphanet_251279-HP_0000007-GENCC_100009"	"HGNC:18121"	"MFRP"	"MONDO:0012605"	"isolated microphthalmia 5"	"Orphanet:251279"	"Orphanet:251279"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18121"	"MFRP"	"Orphanet:251279"	"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17167404[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16395"	"2021-09-14"
"GENCC_000110-HGNC_7045-Orphanet_79329-HP_0000007-GENCC_100009"	"HGNC:7045"	"MGAT2"	"MONDO:0008908"	"MGAT2-congenital disorder of glycosylation"	"Orphanet:79329"	"Orphanet:79329"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7045"	"MGAT2"	"Orphanet:79329"	"MGAT2-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16396"	"2021-09-14"
"GENCC_000110-HGNC_7060-Orphanet_85202-HP_0000007-GENCC_100009"	"HGNC:7060"	"MGP"	"MONDO:0009495"	"Keutel syndrome"	"Orphanet:85202"	"Orphanet:85202"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7060"	"MGP"	"Orphanet:85202"	"Keutel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9916809[PMID]_15810001[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16397"	"2021-09-14"
"GENCC_000110-HGNC_7103-Orphanet_98985-HP_0000006-GENCC_100009"	"HGNC:7103"	"MIP"	"MONDO:0020372"	"early-onset sutural cataract"	"Orphanet:98985"	"Orphanet:98985"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7103"	"MIP"	"Orphanet:98985"	"Early-onset sutural cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20361015[PMID]_24405844[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16401"	"2021-09-14"
"GENCC_000110-HGNC_7103-Orphanet_98989-HP_0000006-GENCC_100009"	"HGNC:7103"	"MIP"	"MONDO:0020374"	"cerulean cataract"	"Orphanet:98989"	"Orphanet:98989"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7103"	"MIP"	"Orphanet:98989"	"Cerulean cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21850180[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16401"	"2021-09-14"
"GENCC_000110-HGNC_7103-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:7103"	"MIP"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7103"	"MIP"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21245956[PMID]_21647270[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16401"	"2021-09-14"
"GENCC_000110-HGNC_7103-Orphanet_98993-HP_0000006-GENCC_100009"	"HGNC:7103"	"MIP"	"MONDO:0020378"	"early-onset posterior polar cataract"	"Orphanet:98993"	"Orphanet:98993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7103"	"MIP"	"Orphanet:98993"	"Early-onset posterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25803033[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16401"	"2021-09-14"
"GENCC_000110-HGNC_7103-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:7103"	"MIP"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7103"	"MIP"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17893667[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16401"	"2021-09-14"
"GENCC_000110-HGNC_7103-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:7103"	"MIP"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7103"	"MIP"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23116563[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16401"	"2021-09-14"
"GENCC_000110-HGNC_7105-Orphanet_895-HP_0000006-GENCC_100009"	"HGNC:7105"	"MITF"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"Orphanet:895"	"Orphanet:895"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7105"	"MITF"	"Orphanet:895"	"Waardenburg syndrome type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23098757[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16402"	"2021-09-14"
"GENCC_000110-HGNC_7105-Orphanet_897-HP_0000006-GENCC_100009"	"HGNC:7105"	"MITF"	"MONDO:0019518"	"Waardenburg-Shah syndrome"	"Orphanet:897"	"Orphanet:897"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7105"	"MITF"	"Orphanet:897"	"Waardenburg-Shah syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30612693[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16402"	"2021-09-14"
"GENCC_000110-HGNC_7105-Orphanet_42665-HP_0000006-GENCC_100009"	"HGNC:7105"	"MITF"	"MONDO:0007077"	"Tietz syndrome"	"Orphanet:42665"	"Orphanet:42665"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7105"	"MITF"	"Orphanet:42665"	"Tietz syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10851256[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16402"	"2021-09-14"
"GENCC_000110-HGNC_7108-Orphanet_2473-HP_0000007-GENCC_100009"	"HGNC:7108"	"MKKS"	"MONDO:0009367"	"McKusick-Kaufman syndrome"	"Orphanet:2473"	"Orphanet:2473"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7108"	"MKKS"	"Orphanet:2473"	"McKusick-Kaufman syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301675[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16403"	"2021-09-14"
"GENCC_000110-HGNC_7108-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:7108"	"MKKS"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7108"	"MKKS"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16403"	"2021-09-14"
"GENCC_000110-HGNC_7121-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:7121"	"MKS1"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7121"	"MKS1"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21110233[PMID]_19466712[PMID]_17389183[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16405"	"2021-09-14"
"GENCC_000110-HGNC_7121-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:7121"	"MKS1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7121"	"MKS1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24886560[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16405"	"2021-09-14"
"GENCC_000110-HGNC_7121-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:7121"	"MKS1"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7121"	"MKS1"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18327255[PMID]_20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16405"	"2021-09-14"
"GENCC_000110-HGNC_7121-Orphanet_220493-HP_0000007-GENCC_100009"	"HGNC:7121"	"MKS1"	"MONDO:0016364"	"Joubert syndrome with ocular defect"	"Orphanet:220493"	"Orphanet:220493"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7121"	"MKS1"	"Orphanet:220493"	"Joubert syndrome with ocular defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24886560[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16405"	"2021-09-14"
"GENCC_000110-HGNC_17082-Orphanet_2478-HP_0000006-GENCC_100009"	"HGNC:17082"	"MLC1"	"MONDO:0011391"	"megalencephalic leukoencephalopathy with subcortical cysts"	"Orphanet:2478"	"Orphanet:2478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17082"	"MLC1"	"Orphanet:2478"	"Megalencephalic leukoencephalopathy with subcortical cysts"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301707[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16406"	"2021-09-14"
"GENCC_000110-HGNC_7127-Orphanet_587-HP_0000006-GENCC_100009"	"HGNC:7127"	"MLH1"	"MONDO:0008018"	"Muir-Torre syndrome"	"Orphanet:587"	"Orphanet:587"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7127"	"MLH1"	"Orphanet:587"	"Muir-Torre syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15235030[PMID]_25197397[PMID]_25006859[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16407"	"2021-09-14"
"GENCC_000110-HGNC_7127-Orphanet_144-HP_0000006-GENCC_100009"	"HGNC:7127"	"MLH1"	"MONDO:0005835"	"Lynch syndrome"	"Orphanet:144"	"Orphanet:144"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7127"	"MLH1"	"Orphanet:144"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23100212[PMID]_26149658[PMID]_20301390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16407"	"2021-09-14"
"GENCC_000110-HGNC_7127-Orphanet_252202-HP_0000007-GENCC_100009"	"HGNC:7127"	"MLH1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"Orphanet:252202"	"Orphanet:252202"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7127"	"MLH1"	"Orphanet:252202"	"Constitutional mismatch repair deficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20442441[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16407"	"2021-09-14"
"GENCC_000110-HGNC_7132-Orphanet_319182-HP_0000006-GENCC_100009"	"HGNC:7132"	"KMT2A"	"MONDO:0011518"	"Wiedemann-Steiner syndrome"	"Orphanet:319182"	"Orphanet:319182"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7132"	"KMT2A"	"Orphanet:319182"	"Wiedemann-Steiner syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22795537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16409"	"2021-09-14"
"GENCC_000110-HGNC_29643-Orphanet_79478-HP_0000007-GENCC_100009"	"HGNC:29643"	"MLPH"	"MONDO:0012220"	"Griscelli syndrome type 3"	"Orphanet:79478"	"Orphanet:79478"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29643"	"MLPH"	"Orphanet:79478"	"Griscelli syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16410"	"2021-09-14"
"GENCC_000110-HGNC_7150-Orphanet_943-HP_0000007-GENCC_100009"	"HGNC:7150"	"MLYCD"	"MONDO:0009556"	"malonic aciduria"	"Orphanet:943"	"Orphanet:943"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7150"	"MLYCD"	"Orphanet:943"	"Malonic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24613099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16412"	"2021-09-14"
"GENCC_000110-HGNC_18871-Orphanet_79310-HP_0000007-GENCC_100009"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"Orphanet:79310"	"Orphanet:79310"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18871"	"MMAA"	"Orphanet:79310"	"Vitamin B12-responsive methylmalonic acidemia type cblA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16413"	"2021-09-14"
"GENCC_000110-HGNC_19331-Orphanet_79311-HP_0000007-GENCC_100009"	"HGNC:19331"	"MMAB"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"Orphanet:79311"	"Orphanet:79311"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19331"	"MMAB"	"Orphanet:79311"	"Vitamin B12-responsive methylmalonic acidemia type cblB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16414"	"2021-09-14"
"GENCC_000110-HGNC_18618-Orphanet_411602-HP_0000006-GENCC_100009"	"HGNC:18618"	"LRRK2"	"MONDO:0018466"	"hereditary late onset Parkinson disease"	"Orphanet:411602"	"Orphanet:411602"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18618"	"LRRK2"	"Orphanet:411602"	"Hereditary late-onset Parkinson disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22166458[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16415"	"2021-09-14"
"GENCC_000110-HGNC_1968-Orphanet_167-HP_0000007-GENCC_100009"	"HGNC:1968"	"LYST"	"MONDO:0008963"	"Chediak-Higashi syndrome"	"Orphanet:167"	"Orphanet:167"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1968"	"LYST"	"Orphanet:167"	"ChÚdiak-Higashi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20368792[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16419"	"2021-09-14"
"GENCC_000110-HGNC_1968-Orphanet_352723-HP_0000007-GENCC_100009"	"HGNC:1968"	"LYST"	"MONDO:0018133"	"attenuated Chédiak-Higashi syndrome"	"Orphanet:352723"	"Orphanet:352723"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1968"	"LYST"	"Orphanet:352723"	"Attenuated ChÚdiak-Higashi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23521865[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16419"	"2021-09-14"
"GENCC_000110-HGNC_6740-Orphanet_93561-HP_0000006-GENCC_100009"	"HGNC:6740"	"LYZ"	"MONDO:0019732"	"ALys amyloidosis"	"Orphanet:93561"	"Orphanet:93561"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6740"	"LYZ"	"Orphanet:93561"	"ALys amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11849445[PMID]_12675840[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16420"	"2021-09-14"
"GENCC_000110-HGNC_21497-Orphanet_99901-HP_0000007-GENCC_100009"	"HGNC:21497"	"ACAD9"	"MONDO:0012624"	"acyl-CoA dehydrogenase 9 deficiency"	"Orphanet:99901"	"Orphanet:99901"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21497"	"ACAD9"	"Orphanet:99901"	"Acyl-CoA dehydrogenase 9 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17564966[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16424"	"2021-09-14"
"GENCC_000110-HGNC_87-Orphanet_79159-HP_0000007-GENCC_100009"	"HGNC:87"	"ACAD8"	"MONDO:0012648"	"isobutyryl-CoA dehydrogenase deficiency"	"Orphanet:79159"	"Orphanet:79159"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:87"	"ACAD8"	"Orphanet:79159"	"Isobutyryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24635911[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16425"	"2021-09-14"
"GENCC_000110-HGNC_13829-Orphanet_2721-HP_0000007-GENCC_100009"	"HGNC:13829"	"WNT10A"	"MONDO:0009773"	"odonto-onycho-dermal dysplasia"	"Orphanet:2721"	"Orphanet:2721"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13829"	"WNT10A"	"Orphanet:2721"	"Odonto-onycho-dermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17847007[PMID]_24458874[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16428"	"2021-09-14"
"GENCC_000110-HGNC_13829-Orphanet_248-HP_0000007-GENCC_100009"	"HGNC:13829"	"WNT10A"	"MONDO:0016619"	"autosomal recessive hypohidrotic ectodermal dysplasia"	"Orphanet:248"	"Orphanet:248"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13829"	"WNT10A"	"Orphanet:248"	"Autosomal recessive hypohidrotic ectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16428"	"2021-09-14"
"GENCC_000110-HGNC_13829-Orphanet_50944-HP_0000006-GENCC_100009"	"HGNC:13829"	"WNT10A"	"MONDO:0009145"	"SchC6pf-Schulz-Passarge syndrome"	"Orphanet:50944"	"Orphanet:50944"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13829"	"WNT10A"	"Orphanet:50944"	"Sch÷pf-Schulz-Passarge syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19559398[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16428"	"2021-09-14"
"GENCC_000110-HGNC_13829-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:13829"	"WNT10A"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13829"	"WNT10A"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16428"	"2021-09-14"
"GENCC_000110-HGNC_5101-Orphanet_71289-HP_0000006-GENCC_100009"	"HGNC:5101"	"HOXA11"	"MONDO:0011555"	"radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"	"Orphanet:71289"	"Orphanet:71289"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5101"	"HOXA11"	"Orphanet:71289"	"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11101832[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16429"	"2021-09-14"
"GENCC_000110-HGNC_18623-Orphanet_95428-HP_0000007-GENCC_100009"	"HGNC:18623"	"COG8"	"MONDO:0012635"	"COG8-congenital disorder of glycosylation"	"Orphanet:95428"	"Orphanet:95428"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18623"	"COG8"	"Orphanet:95428"	"COG8-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17331980[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16432"	"2021-09-14"
"GENCC_000110-HGNC_2397-Orphanet_1377-HP_0000006-GENCC_100009"	"HGNC:2397"	"CRYBB1"	"MONDO:0015300"	"cataract - microcornea syndrome"	"Orphanet:1377"	"Orphanet:1377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2397"	"CRYBB1"	"Orphanet:1377"	"Cataract-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16110300[PMID]_21972112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16433"	"2021-09-14"
"GENCC_000110-HGNC_2397-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:2397"	"CRYBB1"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2397"	"CRYBB1"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22267527[PMID]_19461930[PMID]_12360425[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16433"	"2021-09-14"
"GENCC_000110-HGNC_2397-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2397"	"CRYBB1"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2397"	"CRYBB1"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18432316[PMID]_17460281[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16433"	"2021-09-14"
"GENCC_000110-HGNC_7881-Orphanet_974-HP_0000006-GENCC_100009"	"HGNC:7881"	"NOTCH1"	"MONDO:0007034"	"Adams-Oliver syndrome"	"Orphanet:974"	"Orphanet:974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7881"	"NOTCH1"	"Orphanet:974"	"Adams-Oliver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25132448[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16434"	"2021-09-14"
"GENCC_000110-HGNC_7881-Orphanet_402075-HP_0000006-GENCC_100009"	"HGNC:7881"	"NOTCH1"	"MONDO:0007194"	"familial bicuspid aortic valve"	"Orphanet:402075"	"Orphanet:402075"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7881"	"NOTCH1"	"Orphanet:402075"	"Familial bicuspid aortic valve"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16025100[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16434"	"2021-09-14"
"GENCC_000110-HGNC_5099-Orphanet_69737-HP_0000007-GENCC_100009"	"HGNC:5099"	"HOXA1"	"MONDO:0019075"	"Bosley-Salih-Alorainy syndrome"	"Orphanet:69737"	"Orphanet:69737"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5099"	"HOXA1"	"Orphanet:69737"	"Bosley-Salih-Alorainy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17875913[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16435"	"2021-09-14"
"GENCC_000110-HGNC_5099-Orphanet_69739-HP_0000007-GENCC_100009"	"HGNC:5099"	"HOXA1"	"MONDO:0011099"	"human HOXA1 syndromes"	"Orphanet:69739"	"Orphanet:69739"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5099"	"HOXA1"	"Orphanet:69739"	"Athabaskan brainstem dysgenesis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18412118[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16435"	"2021-09-14"
"GENCC_000110-HGNC_43-Orphanet_34592-HP_0000007-GENCC_100009"	"HGNC:43"	"TAP1"	"MONDO:0011476"	"MHC class I deficiency"	"Orphanet:34592"	"Orphanet:34592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:43"	"TAP1"	"Orphanet:34592"	"Immunodeficiency by defective expression of MHC class I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10074494[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16436"	"2021-09-14"
"GENCC_000110-HGNC_11566-Orphanet_34592-HP_0000007-GENCC_100009"	"HGNC:11566"	"TAPBP"	"MONDO:0011476"	"MHC class I deficiency"	"Orphanet:34592"	"Orphanet:34592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11566"	"TAPBP"	"Orphanet:34592"	"Immunodeficiency by defective expression of MHC class I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12149238[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16437"	"2021-09-14"
"GENCC_000110-HGNC_14263-Orphanet_65759-HP_0000007-GENCC_100009"	"HGNC:14263"	"RAB23"	"MONDO:0019012"	"Carpenter syndrome"	"Orphanet:65759"	"Orphanet:65759"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14263"	"RAB23"	"Orphanet:65759"	"Carpenter syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17503333[PMID]_21412941[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16438"	"2021-09-14"
"GENCC_000110-HGNC_23406-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:23406"	"DOLK"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23406"	"DOLK"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22242004[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16439"	"2021-09-14"
"GENCC_000110-HGNC_23406-Orphanet_91131-HP_0000007-GENCC_100009"	"HGNC:23406"	"DOLK"	"MONDO:0012556"	"DK1-congenital disorder of glycosylation"	"Orphanet:91131"	"Orphanet:91131"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23406"	"DOLK"	"Orphanet:91131"	"DK1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16439"	"2021-09-14"
"GENCC_000110-HGNC_2364-Orphanet_930-HP_0000007-GENCC_100009"	"HGNC:2364"	"CRLF1"	"MONDO:0019635"	"idiopathic achalasia"	"Orphanet:930"	"Orphanet:930"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2364"	"CRLF1"	"Orphanet:930"	"Idiopathic achalasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27976805[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16440"	"2021-09-14"
"GENCC_000110-HGNC_2364-Orphanet_1545-HP_0000007-GENCC_100009"	"HGNC:2364"	"CRLF1"	"MONDO:0010091"	"Cold-induced sweating syndrome 1"	"Orphanet:1545"	"Orphanet:1545"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2364"	"CRLF1"	"Orphanet:1545"	"Crisponi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17436252[PMID]_21370513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16440"	"2021-09-14"
"GENCC_000110-HGNC_2364-Orphanet_157820-HP_0000007-GENCC_100009"	"HGNC:2364"	"CRLF1"	"MONDO:0015526"	"cold-induced sweating syndrome"	"Orphanet:157820"	"Orphanet:157820"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2364"	"CRLF1"	"Orphanet:157820"	"Cold-induced sweating syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21370513[PMID]_12509788[PMID]_17436251[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16440"	"2021-09-14"
"GENCC_000110-HGNC_17366-Orphanet_2203-HP_0000007-GENCC_100009"	"HGNC:17366"	"AASS"	"MONDO:0009388"	"hyperlysinemia"	"Orphanet:2203"	"Orphanet:2203"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17366"	"AASS"	"Orphanet:2203"	"Hyperlysinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23570448[PMID]_23890588[PMID]_10775527[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16442"	"2021-09-14"
"GENCC_000110-HGNC_583-Orphanet_3258-HP_0000007-GENCC_100009"	"HGNC:583"	"APC"	"MONDO:0008931"	"Cenani-Lenz syndactyly syndrome"	"Orphanet:3258"	"Orphanet:3258"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:583"	"APC"	"Orphanet:3258"	"Cenani-Lenz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25676610[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16443"	"2021-09-14"
"GENCC_000110-HGNC_583-Orphanet_99818-HP_0000006-GENCC_100009"	"HGNC:583"	"APC"	"MONDO:0020497"	"Turcot syndrome with polyposis"	"Orphanet:99818"	"Orphanet:99818"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:583"	"APC"	"Orphanet:99818"	"Turcot syndrome with polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301519[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16443"	"2021-09-14"
"GENCC_000110-HGNC_583-Orphanet_247806-HP_0000006-GENCC_100009"	"HGNC:583"	"APC"	"MONDO:0016613"	"APC-related attenuated familial adenomatous polyposis"	"Orphanet:247806"	"Orphanet:247806"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:583"	"APC"	"Orphanet:247806"	"APC-related attenuated familial adenomatous polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17489848[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16443"	"2021-09-14"
"GENCC_000110-HGNC_583-Orphanet_314022-HP_0000006-GENCC_100009"	"HGNC:583"	"APC"	"MONDO:0017790"	"gastric adenocarcinoma and proximal polyposis of the stomach"	"Orphanet:314022"	"Orphanet:314022"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:583"	"APC"	"Orphanet:314022"	"Gastric adenocarcinoma and proximal polyposis of the stomach"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27087319[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16443"	"2021-09-14"
"GENCC_000110-HGNC_1058-Orphanet_125-HP_0000007-GENCC_100009"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"Orphanet:125"	"Orphanet:125"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1058"	"BLM"	"Orphanet:125"	"Bloom syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301572[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16445"	"2021-09-14"
"GENCC_000110-HGNC_4886-Orphanet_465508-HP_0000007-GENCC_100009"	"HGNC:4886"	"HFE"	"MONDO:0021001"	"hemochromatosis type 1"	"Orphanet:465508"	"Orphanet:465508"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4886"	"HFE"	"Orphanet:465508"	"Symptomatic form of hemochromatosis type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301613[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16446"	"2021-09-14"
"GENCC_000110-HGNC_4887-Orphanet_79230-HP_0000007-GENCC_100009"	"HGNC:4887"	"HJV"	"MONDO:0019257"	"hemochromatosis type 2"	"Orphanet:79230"	"Orphanet:79230"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4887"	"HJV"	"Orphanet:79230"	"Hemochromatosis type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16447"	"2021-09-14"
"GENCC_000110-HGNC_9201-Orphanet_71526-HP_0000007-GENCC_100009"	"HGNC:9201"	"POMC"	"MONDO:0012335"	"obesity due to pro-opiomelanocortin deficiency"	"Orphanet:71526"	"Orphanet:71526"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9201"	"POMC"	"Orphanet:71526"	"Obesity due to pro-opiomelanocortin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24354022[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16448"	"2021-09-14"
"GENCC_000110-HGNC_11025-Orphanet_93612-HP_0000007-GENCC_100009"	"HGNC:11025"	"SLC3A1"	"MONDO:0019745"	"cystinuria type A"	"Orphanet:93612"	"Orphanet:93612"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11025"	"SLC3A1"	"Orphanet:93612"	"Cystinuria type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21255007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16449"	"2021-09-14"
"GENCC_000110-HGNC_13771-Orphanet_1513-HP_0000006-GENCC_100009"	"HGNC:13771"	"SOST"	"MONDO:0009031"	"craniodiaphyseal dysplasia"	"Orphanet:1513"	"Orphanet:1513"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13771"	"SOST"	"Orphanet:1513"	"Craniodiaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21221996[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16450"	"2021-09-14"
"GENCC_000110-HGNC_13771-Orphanet_3152-HP_0000007-GENCC_100009"	"HGNC:13771"	"SOST"	"MONDO:0017838"	"sclerosteosis"	"Orphanet:3152"	"Orphanet:3152"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13771"	"SOST"	"Orphanet:3152"	"Sclerosteosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301406[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16450"	"2021-09-14"
"GENCC_000110-HGNC_13771-Orphanet_3416-HP_0000006-GENCC_100009"	"HGNC:13771"	"SOST"	"MONDO:0009395"	"hyperostosis corticalis generalisata"	"Orphanet:3416"	"Orphanet:3416"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13771"	"SOST"	"Orphanet:3416"	"Hyperostosis corticalis generalisata"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11836356[PMID]_20301406[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16450"	"2021-09-14"
"GENCC_000110-HGNC_24525-Orphanet_79282-HP_0000007-GENCC_100009"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"Orphanet:79282"	"Orphanet:79282"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24525"	"MMACHC"	"Orphanet:79282"	"Methylmalonic acidemia with homocystinuria, type cblC"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16311595[PMID]_21497120[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16451"	"2021-09-14"
"GENCC_000110-HGNC_7159-Orphanet_1040-HP_0000006-GENCC_100009"	"HGNC:7159"	"MMP13"	"MONDO:0015177"	"metaphyseal anadysplasia"	"Orphanet:1040"	"Orphanet:1040"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7159"	"MMP13"	"Orphanet:1040"	"Metaphyseal anadysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19615667[PMID]_24781753[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16452"	"2021-09-14"
"GENCC_000110-HGNC_7159-Orphanet_2501-HP_0000007-GENCC_100009"	"HGNC:7159"	"MMP13"	"MONDO:0009597"	"metaphyseal chondrodysplasia, Spahr type"	"Orphanet:2501"	"Orphanet:2501"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7159"	"MMP13"	"Orphanet:2501"	"Metaphyseal chondrodysplasia, Spahr type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24648384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16452"	"2021-09-14"
"GENCC_000110-HGNC_7159-Orphanet_93356-HP_0000006-GENCC_100009"	"HGNC:7159"	"MMP13"	"MONDO:0011198"	"spondyloepimetaphyseal dysplasia, Missouri type"	"Orphanet:93356"	"Orphanet:93356"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7159"	"MMP13"	"Orphanet:93356"	"Spondyloepimetaphyseal dysplasia, Missouri type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16452"	"2021-09-14"
"GENCC_000110-HGNC_7166-Orphanet_371428-HP_0000007-GENCC_100009"	"HGNC:7166"	"MMP2"	"MONDO:0018298"	"multicentric osteolysis-nodulosis-arthropathy spectrum"	"Orphanet:371428"	"Orphanet:371428"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7166"	"MMP2"	"Orphanet:371428"	"Multicentric osteolysis-nodulosis-arthropathy spectrum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22922033[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16453"	"2021-09-14"
"GENCC_000110-HGNC_18234-Orphanet_93602-HP_0000007-GENCC_100009"	"HGNC:18234"	"MOCOS"	"MONDO:0011346"	"xanthinuria type II"	"Orphanet:93602"	"Orphanet:93602"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18234"	"MOCOS"	"Orphanet:93602"	"Xanthinuria type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11302742[PMID]_17368066[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16455"	"2021-09-14"
"GENCC_000110-HGNC_7207-Orphanet_79323-HP_0000007-GENCC_100009"	"HGNC:7207"	"MPDU1"	"MONDO:0012211"	"MPDU1-congenital disorder of glycosylation"	"Orphanet:79323"	"Orphanet:79323"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7207"	"MPDU1"	"Orphanet:79323"	"MPDU1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16458"	"2021-09-14"
"GENCC_000110-HGNC_7216-Orphanet_79319-HP_0000007-GENCC_100009"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"Orphanet:79319"	"Orphanet:79319"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7216"	"MPI"	"Orphanet:79319"	"MPI-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16459"	"2021-09-14"
"GENCC_000110-HGNC_7217-Orphanet_3319-HP_0000007-GENCC_100009"	"HGNC:7217"	"MPL"	"MONDO:0011469"	"congenital amegakaryocytic thrombocytopenia"	"Orphanet:3319"	"Orphanet:3319"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7217"	"MPL"	"Orphanet:3319"	"Congenital amegakaryocytic thrombocytopenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19302922[PMID]_24438083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16460"	"2021-09-14"
"GENCC_000110-HGNC_7217-Orphanet_71493-HP_0000006-GENCC_100009"	"HGNC:7217"	"MPL"	"MONDO:0019111"	"familial thrombocytosis"	"Orphanet:71493"	"Orphanet:71493"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7217"	"MPL"	"Orphanet:71493"	"Familial thrombocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16460"	"2021-09-14"
"GENCC_000110-HGNC_7217-Orphanet_397692-HP_0000006-GENCC_100009"	"HGNC:7217"	"MPL"	"MONDO:0018340"	"hereditary isolated aplastic anemia"	"Orphanet:397692"	"Orphanet:397692"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7217"	"MPL"	"Orphanet:397692"	"Hereditary isolated aplastic anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22180433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16460"	"2021-09-14"
"GENCC_000110-HGNC_7224-Orphanet_255229-HP_0000007-GENCC_100009"	"HGNC:7224"	"MPV17"	"MONDO:0009747"	"mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"	"Orphanet:255229"	"Orphanet:255229"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7224"	"MPV17"	"Orphanet:255229"	"Navajo neurohepatopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22593919[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16462"	"2021-09-14"
"GENCC_000110-HGNC_7225-Orphanet_64748-HP_0000006-GENCC_100009"	"HGNC:7225"	"MPZ"	"MONDO:0007790"	"Charcot-Marie-Tooth disease type 3"	"Orphanet:64748"	"Orphanet:64748"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7225"	"MPZ"	"Orphanet:64748"	"Dejerine-Sottas syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8816708[PMID]_12242557[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16463"	"2021-09-14"
"GENCC_000110-HGNC_7225-Orphanet_99942-HP_0000006-GENCC_100009"	"HGNC:7225"	"MPZ"	"MONDO:0011889"	"Charcot-Marie-Tooth disease type 2I"	"Orphanet:99942"	"Orphanet:99942"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7225"	"MPZ"	"Orphanet:99942"	"Autosomal dominant Charcot-Marie-Tooth disease type 2I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16463"	"2021-09-14"
"GENCC_000110-HGNC_7225-Orphanet_99943-HP_0000006-GENCC_100009"	"HGNC:7225"	"MPZ"	"MONDO:0011903"	"Charcot-Marie-Tooth disease type 2J"	"Orphanet:99943"	"Orphanet:99943"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7225"	"MPZ"	"Orphanet:99943"	"Autosomal dominant Charcot-Marie-Tooth disease type 2J"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16463"	"2021-09-14"
"GENCC_000110-HGNC_7225-Orphanet_100046-HP_0000006-GENCC_100009"	"HGNC:7225"	"MPZ"	"MONDO:0011909"	"Charcot-Marie-Tooth disease dominant intermediate D"	"Orphanet:100046"	"Orphanet:100046"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7225"	"MPZ"	"Orphanet:100046"	"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10406984[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16463"	"2021-09-14"
"GENCC_000110-HGNC_7225-Orphanet_101082-HP_0000006-GENCC_100009"	"HGNC:7225"	"MPZ"	"MONDO:0007307"	"Charcot-Marie-Tooth disease type 1B"	"Orphanet:101082"	"Orphanet:101082"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7225"	"MPZ"	"Orphanet:101082"	"Charcot-Marie-Tooth disease type 1B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16463"	"2021-09-14"
"GENCC_000110-HGNC_7225-Orphanet_324585-HP_0000006-GENCC_100009"	"HGNC:7225"	"MPZ"	"MONDO:0017937"	"autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"	"Orphanet:324585"	"Orphanet:324585"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7225"	"MPZ"	"Orphanet:324585"	"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22704856[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16463"	"2021-09-14"
"GENCC_000110-HGNC_1304-Orphanet_361-HP_0000007-GENCC_100009"	"HGNC:1304"	"MRAP"	"MONDO:0008733"	"familial glucocorticoid deficiency"	"Orphanet:361"	"Orphanet:361"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1304"	"MRAP"	"Orphanet:361"	"Familial glucocorticoid deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15654338[PMID]_17893271[PMID]_20427498[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16464"	"2021-09-14"
"GENCC_000110-HGNC_7230-Orphanet_251347-HP_0000007-GENCC_100009"	"HGNC:7230"	"MRE11"	"MONDO:0024557"	"ataxia-telangiectasia-like disorder 1"	"Orphanet:251347"	"Orphanet:251347"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7230"	"MRE11"	"Orphanet:251347"	"Ataxia-telangiectasia-like disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10612394[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16465"	"2021-09-14"
"GENCC_000110-HGNC_7325-Orphanet_587-HP_0000006-GENCC_100009"	"HGNC:7325"	"MSH2"	"MONDO:0008018"	"Muir-Torre syndrome"	"Orphanet:587"	"Orphanet:587"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7325"	"MSH2"	"Orphanet:587"	"Muir-Torre syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14994245[PMID]_15235030[PMID]_25006859[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16466"	"2021-09-14"
"GENCC_000110-HGNC_7325-Orphanet_144-HP_0000006-GENCC_100009"	"HGNC:7325"	"MSH2"	"MONDO:0005835"	"Lynch syndrome"	"Orphanet:144"	"Orphanet:144"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7325"	"MSH2"	"Orphanet:144"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22234272[PMID]_26076155[PMID]_20301390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16466"	"2021-09-14"
"GENCC_000110-HGNC_7325-Orphanet_252202-HP_0000007-GENCC_100009"	"HGNC:7325"	"MSH2"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"Orphanet:252202"	"Orphanet:252202"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7325"	"MSH2"	"Orphanet:252202"	"Constitutional mismatch repair deficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20442441[PMID]_23483711[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16466"	"2021-09-14"
"GENCC_000110-HGNC_7329-Orphanet_587-HP_0000006-GENCC_100009"	"HGNC:7329"	"MSH6"	"MONDO:0008018"	"Muir-Torre syndrome"	"Orphanet:587"	"Orphanet:587"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7329"	"MSH6"	"Orphanet:587"	"Muir-Torre syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22734033[PMID]_25006859[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16467"	"2021-09-14"
"GENCC_000110-HGNC_7329-Orphanet_144-HP_0000006-GENCC_100009"	"HGNC:7329"	"MSH6"	"MONDO:0005835"	"Lynch syndrome"	"Orphanet:144"	"Orphanet:144"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7329"	"MSH6"	"Orphanet:144"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25318681[PMID]_20301390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16467"	"2021-09-14"
"GENCC_000110-HGNC_7329-Orphanet_252202-HP_0000007-GENCC_100009"	"HGNC:7329"	"MSH6"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"Orphanet:252202"	"Orphanet:252202"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7329"	"MSH6"	"Orphanet:252202"	"Constitutional mismatch repair deficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20442441[PMID]_23483711[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16467"	"2021-09-14"
"GENCC_000110-HGNC_7391-Orphanet_2228-HP_0000006-GENCC_100009"	"HGNC:7391"	"MSX1"	"MONDO:0008582"	"tooth and nail syndrome"	"Orphanet:2228"	"Orphanet:2228"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7391"	"MSX1"	"Orphanet:2228"	"Hypodontia-dysplasia of nails syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11369996[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16468"	"2021-09-14"
"GENCC_000110-HGNC_7391-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:7391"	"MSX1"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7391"	"MSX1"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16468"	"2021-09-14"
"GENCC_000110-HGNC_7392-Orphanet_1541-HP_0000006-GENCC_100009"	"HGNC:7392"	"MSX2"	"MONDO:0011481"	"craniosynostosis 2"	"Orphanet:1541"	"Orphanet:1541"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7392"	"MSX2"	"Orphanet:1541"	"Craniosynostosis, Boston type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23918290[PMID]_23949913[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16469"	"2021-09-14"
"GENCC_000110-HGNC_7392-Orphanet_60015-HP_0000006-GENCC_100009"	"HGNC:7392"	"MSX2"	"MONDO:0018953"	"parietal foramina"	"Orphanet:60015"	"Orphanet:60015"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7392"	"MSX2"	"Orphanet:60015"	"Enlarged parietal foramina"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16319823[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16469"	"2021-09-14"
"GENCC_000110-HGNC_7392-Orphanet_251290-HP_0000006-GENCC_100009"	"HGNC:7392"	"MSX2"	"MONDO:0008198"	"parietal foramina with cleidocranial dysplasia"	"Orphanet:251290"	"Orphanet:251290"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7392"	"MSX2"	"Orphanet:251290"	"Parietal foramina with clavicular hypoplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16469"	"2021-09-14"
"GENCC_000110-HGNC_7414-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7414"	"MT-ATP6"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7414"	"MT-ATP6"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16470"	"2021-09-14"
"GENCC_000110-HGNC_7414-Orphanet_644-HP_0001427-GENCC_100009"	"HGNC:7414"	"MT-ATP6"	"MONDO:0010794"	"NARP syndrome"	"Orphanet:644"	"Orphanet:644"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7414"	"MT-ATP6"	"Orphanet:644"	"NARP syndrome"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16470"	"2021-09-14"
"GENCC_000110-HGNC_7414-Orphanet_225154-HP_0000006-GENCC_100009"	"HGNC:7414"	"MT-ATP6"	"MONDO:0010080"	"familial infantile bilateral striatal necrosis"	"Orphanet:225154"	"Orphanet:225154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7414"	"MT-ATP6"	"Orphanet:225154"	"Familial infantile bilateral striatal necrosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16470"	"2021-09-14"
"GENCC_000110-HGNC_7414-Orphanet_254913-HP_0000007-GENCC_100009"	"HGNC:7414"	"MT-ATP6"	"MONDO:0014471"	"mitochondrial proton-transporting ATP synthase complex deficiency"	"Orphanet:254913"	"Orphanet:254913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7414"	"MT-ATP6"	"Orphanet:254913"	"Isolated ATP synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21686774_28412374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16470"	"2021-09-14"
"GENCC_000110-HGNC_7414-Orphanet_255210-HP_0001427-GENCC_100009"	"HGNC:7414"	"MT-ATP6"	"MONDO:0016814"	"maternally-inherited Leigh syndrome"	"Orphanet:255210"	"Orphanet:255210"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7414"	"MT-ATP6"	"Orphanet:255210"	"Mitochondrial DNA-associated Leigh syndrome"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19433277[PMID]_20301352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16470"	"2021-09-14"
"GENCC_000110-HGNC_7414-Orphanet_320360-HP_0001427-GENCC_100009"	"HGNC:7414"	"MT-ATP6"	"MONDO:0017917"	"maternally-inherited spastic paraplegia"	"Orphanet:320360"	"Orphanet:320360"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7414"	"MT-ATP6"	"Orphanet:320360"	"MT-ATP6-related mitochondrial spastic paraplegia"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20656066[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16470"	"2021-09-14"
"GENCC_000110-HGNC_7414-Orphanet_397750-HP_0001427-GENCC_100009"	"HGNC:7414"	"MT-ATP6"	"MONDO:0018343"	"periodic paralysis with later-onset distal motor neuropathy"	"Orphanet:397750"	"Orphanet:397750"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7414"	"MT-ATP6"	"Orphanet:397750"	"Periodic paralysis with later-onset distal motor neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24153443[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16470"	"2021-09-14"
"GENCC_000110-HGNC_7419-Orphanet_550-HP_0001427-GENCC_100009"	"HGNC:7419"	"MT-CO1"	"MONDO:0010789"	"MELAS syndrome"	"Orphanet:550"	"Orphanet:550"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7419"	"MT-CO1"	"Orphanet:550"	"MELAS"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22832341[PMID]_19568996[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16471"	"2021-09-14"
"GENCC_000110-HGNC_7419-Orphanet_90641-HP_0001427-GENCC_100009"	"HGNC:7419"	"MT-CO1"	"MONDO:0010779"	"mitochondrial non-syndromic sensorineural hearing loss"	"Orphanet:90641"	"Orphanet:90641"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7419"	"MT-CO1"	"Orphanet:90641"	"Mitochondrial non-syndromic sensorineural deafness"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16471"	"2021-09-14"
"GENCC_000110-HGNC_7419-Orphanet_99845-HP_0000006-GENCC_100009"	"HGNC:7419"	"MT-CO1"	"MONDO:0020504"	"hereditary recurrent myoglobinuria"	"Orphanet:99845"	"Orphanet:99845"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7419"	"MT-CO1"	"Orphanet:99845"	"Genetic recurrent myoglobinuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16471"	"2021-09-14"
"GENCC_000110-HGNC_7419-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:7419"	"MT-CO1"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7419"	"MT-CO1"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12140182[PMID]_16284789[PMID]_11579424[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16471"	"2021-09-14"
"GENCC_000110-HGNC_7421-Orphanet_550-HP_0001427-GENCC_100009"	"HGNC:7421"	"MT-CO2"	"MONDO:0010789"	"MELAS syndrome"	"Orphanet:550"	"Orphanet:550"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7421"	"MT-CO2"	"Orphanet:550"	"MELAS"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18245391[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16472"	"2021-09-14"
"GENCC_000110-HGNC_7421-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:7421"	"MT-CO2"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7421"	"MT-CO2"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10205264[PMID]_10486321[PMID]_11471180[PMID]_11558799[PMID]_11579424[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16472"	"2021-09-14"
"GENCC_000110-HGNC_7422-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7422"	"MT-CO3"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7422"	"MT-CO3"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16473"	"2021-09-14"
"GENCC_000110-HGNC_7422-Orphanet_99845-HP_0000006-GENCC_100009"	"HGNC:7422"	"MT-CO3"	"MONDO:0020504"	"hereditary recurrent myoglobinuria"	"Orphanet:99845"	"Orphanet:99845"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7422"	"MT-CO3"	"Orphanet:99845"	"Genetic recurrent myoglobinuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16473"	"2021-09-14"
"GENCC_000110-HGNC_7422-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:7422"	"MT-CO3"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7422"	"MT-CO3"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8630495[PMID]_9634511[PMID]_11063732[PMID]_12414820[PMID]_11579424[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16473"	"2021-09-14"
"GENCC_000110-HGNC_7427-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7427"	"MT-CYB"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7427"	"MT-CYB"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16474"	"2021-09-14"
"GENCC_000110-HGNC_7427-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:7427"	"MT-CYB"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7427"	"MT-CYB"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20862300[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16474"	"2021-09-14"
"GENCC_000110-HGNC_7436-Orphanet_395-HP_0000007-GENCC_100009"	"HGNC:7436"	"MTHFR"	"MONDO:0009353"	"homocystinuria due to methylene tetrahydrofolate reductase deficiency"	"Orphanet:395"	"Orphanet:395"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7436"	"MTHFR"	"Orphanet:395"	"Homocystinuria due to methylene tetrahydrofolate reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16475"	"2021-09-14"
"GENCC_000110-HGNC_7448-Orphanet_596-HP_0001417-GENCC_100009"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked myotubular myopathy"	"Orphanet:596"	"Orphanet:596"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:7448"	"MTM1"	"Orphanet:596"	"X-linked centronuclear myopathy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301605[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16476"	"2021-09-14"
"GENCC_000110-HGNC_7450-Orphanet_99955-HP_0000007-GENCC_100009"	"HGNC:7450"	"MTMR2"	"MONDO:0011066"	"Charcot-Marie-Tooth disease type 4B1"	"Orphanet:99955"	"Orphanet:99955"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7450"	"MTMR2"	"Orphanet:99955"	"Charcot-Marie-Tooth disease type 4B1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16477"	"2021-09-14"
"GENCC_000110-HGNC_7455-Orphanet_550-HP_0001427-GENCC_100009"	"HGNC:7455"	"MT-ND1"	"MONDO:0010789"	"MELAS syndrome"	"Orphanet:550"	"Orphanet:550"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7455"	"MT-ND1"	"Orphanet:550"	"MELAS"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15657614[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16478"	"2021-09-14"
"GENCC_000110-HGNC_7455-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7455"	"MT-ND1"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7455"	"MT-ND1"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16478"	"2021-09-14"
"GENCC_000110-HGNC_7455-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7455"	"MT-ND1"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7455"	"MT-ND1"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10775530[PMID]_16492986[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16478"	"2021-09-14"
"GENCC_000110-HGNC_7455-Orphanet_255210-HP_0001427-GENCC_100009"	"HGNC:7455"	"MT-ND1"	"MONDO:0016814"	"maternally-inherited Leigh syndrome"	"Orphanet:255210"	"Orphanet:255210"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7455"	"MT-ND1"	"Orphanet:255210"	"Mitochondrial DNA-associated Leigh syndrome"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301352[PMID]_24830958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16478"	"2021-09-14"
"GENCC_000110-HGNC_7456-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7456"	"MT-ND2"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7456"	"MT-ND2"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16479"	"2021-09-14"
"GENCC_000110-HGNC_7456-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7456"	"MT-ND2"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7456"	"MT-ND2"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12192017[PMID]_15781840[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16479"	"2021-09-14"
"GENCC_000110-HGNC_7456-Orphanet_255210-HP_0001427-GENCC_100009"	"HGNC:7456"	"MT-ND2"	"MONDO:0016814"	"maternally-inherited Leigh syndrome"	"Orphanet:255210"	"Orphanet:255210"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7456"	"MT-ND2"	"Orphanet:255210"	"Mitochondrial DNA-associated Leigh syndrome"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16738010[PMID]_16996290[PMID]_20301352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16479"	"2021-09-14"
"GENCC_000110-HGNC_7458-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7458"	"MT-ND3"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7458"	"MT-ND3"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14705112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16480"	"2021-09-14"
"GENCC_000110-HGNC_7458-Orphanet_99718-HP_0001427-GENCC_100009"	"HGNC:7458"	"MT-ND3"	"MONDO:0020478"	"Leber plus disease"	"Orphanet:99718"	"Orphanet:99718"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7458"	"MT-ND3"	"Orphanet:99718"	"Leber plus disease"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19458970[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16480"	"2021-09-14"
"GENCC_000110-HGNC_7458-Orphanet_255210-HP_0001427-GENCC_100009"	"HGNC:7458"	"MT-ND3"	"MONDO:0016814"	"maternally-inherited Leigh syndrome"	"Orphanet:255210"	"Orphanet:255210"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7458"	"MT-ND3"	"Orphanet:255210"	"Mitochondrial DNA-associated Leigh syndrome"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16023078[PMID]_20202874[PMID]_20301352[PMID]_22364517[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16480"	"2021-09-14"
"GENCC_000110-HGNC_7459-Orphanet_550-HP_0001427-GENCC_100009"	"HGNC:7459"	"MT-ND4"	"MONDO:0010789"	"MELAS syndrome"	"Orphanet:550"	"Orphanet:550"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7459"	"MT-ND4"	"Orphanet:550"	"MELAS"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16481"	"2021-09-14"
"GENCC_000110-HGNC_7459-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7459"	"MT-ND4"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7459"	"MT-ND4"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16481"	"2021-09-14"
"GENCC_000110-HGNC_7459-Orphanet_99718-HP_0001427-GENCC_100009"	"HGNC:7459"	"MT-ND4"	"MONDO:0020478"	"Leber plus disease"	"Orphanet:99718"	"Orphanet:99718"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7459"	"MT-ND4"	"Orphanet:99718"	"Leber plus disease"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8644732[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16481"	"2021-09-14"
"GENCC_000110-HGNC_7459-Orphanet_255210-HP_0001427-GENCC_100009"	"HGNC:7459"	"MT-ND4"	"MONDO:0016814"	"maternally-inherited Leigh syndrome"	"Orphanet:255210"	"Orphanet:255210"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7459"	"MT-ND4"	"Orphanet:255210"	"Mitochondrial DNA-associated Leigh syndrome"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301352[PMID]_20502985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16481"	"2021-09-14"
"GENCC_000110-HGNC_7460-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7460"	"MT-ND4L"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7460"	"MT-ND4L"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16482"	"2021-09-14"
"GENCC_000110-HGNC_7461-Orphanet_550-HP_0001427-GENCC_100009"	"HGNC:7461"	"MT-ND5"	"MONDO:0010789"	"MELAS syndrome"	"Orphanet:550"	"Orphanet:550"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7461"	"MT-ND5"	"Orphanet:550"	"MELAS"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18587274[PMID]_20301411[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16483"	"2021-09-14"
"GENCC_000110-HGNC_7461-Orphanet_551-HP_0001427-GENCC_100009"	"HGNC:7461"	"MT-ND5"	"MONDO:0010790"	"MERRF syndrome"	"Orphanet:551"	"Orphanet:551"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7461"	"MT-ND5"	"Orphanet:551"	"MERRF"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16483"	"2021-09-14"
"GENCC_000110-HGNC_7461-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7461"	"MT-ND5"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7461"	"MT-ND5"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16483"	"2021-09-14"
"GENCC_000110-HGNC_7461-Orphanet_255210-HP_0001427-GENCC_100009"	"HGNC:7461"	"MT-ND5"	"MONDO:0016814"	"maternally-inherited Leigh syndrome"	"Orphanet:255210"	"Orphanet:255210"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7461"	"MT-ND5"	"Orphanet:255210"	"Mitochondrial DNA-associated Leigh syndrome"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11938446[PMID]_14520659[PMID]_20301352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16483"	"2021-09-14"
"GENCC_000110-HGNC_7462-Orphanet_550-HP_0001427-GENCC_100009"	"HGNC:7462"	"MT-ND6"	"MONDO:0010789"	"MELAS syndrome"	"Orphanet:550"	"Orphanet:550"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7462"	"MT-ND6"	"Orphanet:550"	"MELAS"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11781695[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16484"	"2021-09-14"
"GENCC_000110-HGNC_7462-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7462"	"MT-ND6"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7462"	"MT-ND6"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16484"	"2021-09-14"
"GENCC_000110-HGNC_7462-Orphanet_99718-HP_0001427-GENCC_100009"	"HGNC:7462"	"MT-ND6"	"MONDO:0020478"	"Leber plus disease"	"Orphanet:99718"	"Orphanet:99718"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7462"	"MT-ND6"	"Orphanet:99718"	"Leber plus disease"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8016139[PMID]_8644732[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16484"	"2021-09-14"
"GENCC_000110-HGNC_7462-Orphanet_255210-HP_0001427-GENCC_100009"	"HGNC:7462"	"MT-ND6"	"MONDO:0016814"	"maternally-inherited Leigh syndrome"	"Orphanet:255210"	"Orphanet:255210"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7462"	"MT-ND6"	"Orphanet:255210"	"Mitochondrial DNA-associated Leigh syndrome"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14595656[PMID]_20301352[PMID]_23813926[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16484"	"2021-09-14"
"GENCC_000110-HGNC_7468-Orphanet_2170-HP_0000007-GENCC_100009"	"HGNC:7468"	"MTR"	"MONDO:0009609"	"methylcobalamin deficiency type cblG"	"Orphanet:2170"	"Orphanet:2170"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7468"	"MTR"	"Orphanet:2170"	"Methylcobalamin deficiency type cblG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16485"	"2021-09-14"
"GENCC_000110-HGNC_7473-Orphanet_2169-HP_0000007-GENCC_100009"	"HGNC:7473"	"MTRR"	"MONDO:0009354"	"methylcobalamin deficiency type cblE"	"Orphanet:2169"	"Orphanet:2169"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7473"	"MTRR"	"Orphanet:2169"	"Methylcobalamin deficiency type cblE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16486"	"2021-09-14"
"GENCC_000110-HGNC_7467-Orphanet_14-HP_0000007-GENCC_100009"	"HGNC:7467"	"MTTP"	"MONDO:0008692"	"abetalipoproteinemia"	"Orphanet:14"	"Orphanet:14"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7467"	"MTTP"	"Orphanet:14"	"Abetalipoproteinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22378282[PMID]_24288038[PMID]_23556456[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16487"	"2021-09-14"
"GENCC_000110-HGNC_7526-Orphanet_79312-HP_0000007-GENCC_100009"	"HGNC:7526"	"MMUT"	"MONDO:0019267"	"vitamin B12-unresponsive methylmalonic acidemia type mut-"	"Orphanet:79312"	"Orphanet:79312"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7526"	"MMUT"	"Orphanet:79312"	"Vitamin B12-unresponsive methylmalonic acidemia type mut-"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16489"	"2021-09-14"
"GENCC_000110-HGNC_7526-Orphanet_289916-HP_0000007-GENCC_100009"	"HGNC:7526"	"MMUT"	"MONDO:0017360"	"vitamin B12-unresponsive methylmalonic acidemia type mut0"	"Orphanet:289916"	"Orphanet:289916"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7526"	"MMUT"	"Orphanet:289916"	"Vitamin B12-unresponsive methylmalonic acidemia type mut0"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301409[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16489"	"2021-09-14"
"GENCC_000110-HGNC_7527-Orphanet_247798-HP_0000006-GENCC_100009"	"HGNC:7527"	"MUTYH"	"MONDO:0012041"	"familial adenomatous polyposis 2"	"Orphanet:247798"	"Orphanet:247798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7527"	"MUTYH"	"Orphanet:247798"	"MUTYH-related attenuated familial adenomatous polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17489848[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16490"	"2021-09-14"
"GENCC_000110-HGNC_7530-Orphanet_29-HP_0000007-GENCC_100009"	"HGNC:7530"	"MVK"	"MONDO:0012481"	"mevalonic aciduria"	"Orphanet:29"	"Orphanet:29"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7530"	"MVK"	"Orphanet:29"	"Mevalonic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16491"	"2021-09-14"
"GENCC_000110-HGNC_7530-Orphanet_343-HP_0000007-GENCC_100009"	"HGNC:7530"	"MVK"	"MONDO:0009849"	"hyperimmunoglobulinemia D with periodic fever"	"Orphanet:343"	"Orphanet:343"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7530"	"MVK"	"Orphanet:343"	"Hyperimmunoglobulinemia D with periodic fever"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11313769[PMID]_10369262[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16491"	"2021-09-14"
"GENCC_000110-HGNC_7530-Orphanet_735-HP_0000006-GENCC_100009"	"HGNC:7530"	"MVK"	"MONDO:0019141"	"porokeratosis of Mibelli"	"Orphanet:735"	"Orphanet:735"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7530"	"MVK"	"Orphanet:735"	"Porokeratosis of Mibelli"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26202976[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16491"	"2021-09-14"
"GENCC_000110-HGNC_7530-Orphanet_79152-HP_0000006-GENCC_100009"	"HGNC:7530"	"MVK"	"MONDO:0019212"	"disseminated superficial actinic porokeratosis"	"Orphanet:79152"	"Orphanet:79152"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7530"	"MVK"	"Orphanet:79152"	"Disseminated superficial actinic porokeratosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22983302[PMID]_26202976[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16491"	"2021-09-14"
"GENCC_000110-HGNC_7551-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:7551"	"MYBPC3"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7551"	"MYBPC3"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20215591[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16493"	"2021-09-14"
"GENCC_000110-HGNC_7559-Orphanet_391641-HP_0000006-GENCC_100009"	"HGNC:7559"	"MYCN"	"MONDO:0008115"	"Feingold syndrome type 1"	"Orphanet:391641"	"Orphanet:391641"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7559"	"MYCN"	"Orphanet:391641"	"Feingold syndrome type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18470948[PMID]_15821734[PMID]_20301770[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16494"	"2021-09-14"
"GENCC_000110-HGNC_7569-Orphanet_2241-HP_0000006-GENCC_100009"	"HGNC:7569"	"MYH11"	"MONDO:0007960"	"megacystis-microcolon-intestinal hypoperistalsis syndrome"	"Orphanet:2241"	"Orphanet:2241"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7569"	"MYH11"	"Orphanet:2241"	"Megacystis-microcolon-intestinal hypoperistalsis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25407000[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16496"	"2021-09-14"
"GENCC_000110-HGNC_7569-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:7569"	"MYH11"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7569"	"MYH11"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16496"	"2021-09-14"
"GENCC_000110-HGNC_23212-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:23212"	"MYH14"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23212"	"MYH14"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16497"	"2021-09-14"
"GENCC_000110-HGNC_23212-Orphanet_397744-HP_0000006-GENCC_100009"	"HGNC:23212"	"MYH14"	"MONDO:0013711"	"peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"	"Orphanet:397744"	"Orphanet:397744"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23212"	"MYH14"	"Orphanet:397744"	"Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21480433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16497"	"2021-09-14"
"GENCC_000110-HGNC_7572-Orphanet_79091-HP_0000006-GENCC_100009"	"HGNC:7572"	"MYH2"	"MONDO:0019195"	"hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"	"Orphanet:79091"	"Orphanet:79091"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7572"	"MYH2"	"Orphanet:79091"	"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11114175[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16498"	"2021-09-14"
"GENCC_000110-HGNC_7572-Orphanet_363677-HP_0000007-GENCC_100009"	"HGNC:7572"	"MYH2"	"MONDO:0018206"	"childhood-onset autosomal recessive myopathy with external ophthalmoplegia"	"Orphanet:363677"	"Orphanet:363677"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7572"	"MYH2"	"Orphanet:363677"	"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23388406[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16498"	"2021-09-14"
"GENCC_000110-HGNC_7573-Orphanet_1146-HP_0000006-GENCC_100009"	"HGNC:7573"	"MYH3"	"MONDO:0015240"	"digitotalar dysmorphism"	"Orphanet:1146"	"Orphanet:1146"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7573"	"MYH3"	"Orphanet:1146"	"Distal arthrogryposis type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16499"	"2021-09-14"
"GENCC_000110-HGNC_7573-Orphanet_1147-HP_0000006-GENCC_100009"	"HGNC:7573"	"MYH3"	"MONDO:0011128"	"Sheldon-hall syndrome"	"Orphanet:1147"	"Orphanet:1147"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7573"	"MYH3"	"Orphanet:1147"	"Sheldon-Hall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23401156[PMID]_16642020[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16499"	"2021-09-14"
"GENCC_000110-HGNC_7573-Orphanet_2053-HP_0000006-GENCC_100009"	"HGNC:7573"	"MYH3"	"MONDO:0008675"	"Freeman-Sheldon syndrome"	"Orphanet:2053"	"Orphanet:2053"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7573"	"MYH3"	"Orphanet:2053"	"Freeman-Sheldon syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16642020[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16499"	"2021-09-14"
"GENCC_000110-HGNC_7573-Orphanet_2990-HP_0000007-GENCC_100009"	"HGNC:7573"	"MYH3"	"MONDO:0009926"	"autosomal recessive multiple pterygium syndrome"	"Orphanet:2990"	"Orphanet:2990"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7573"	"MYH3"	"Orphanet:2990"	"Autosomal recessive multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29805041[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16499"	"2021-09-14"
"GENCC_000110-HGNC_7573-Orphanet_3275-HP_0000007-GENCC_100009"	"HGNC:7573"	"MYH3"	"MONDO:0010094"	"spondylocarpotarsal synostosis syndrome"	"Orphanet:3275"	"Orphanet:3275"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7573"	"MYH3"	"Orphanet:3275"	"Spondylocarpotarsal synostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27381093[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16499"	"2021-09-14"
"GENCC_000110-HGNC_7573-Orphanet_65743-HP_0000006-GENCC_100009"	"HGNC:7573"	"MYH3"	"MONDO:0008338"	"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A"	"Orphanet:65743"	"Orphanet:65743"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7573"	"MYH3"	"Orphanet:65743"	"Autosomal dominant multiple pterygium syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25957469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16499"	"2021-09-14"
"GENCC_000110-HGNC_7576-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:7576"	"MYH6"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7576"	"MYH6"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15998695[PMID]_20215591[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16500"	"2021-09-14"
"GENCC_000110-HGNC_7577-Orphanet_1880-HP_0000006-GENCC_100009"	"HGNC:7577"	"MYH7"	"MONDO:0009144"	"Ebstein anomaly"	"Orphanet:1880"	"Orphanet:1880"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7577"	"MYH7"	"Orphanet:1880"	"Ebstein malformation of the tricuspid valve"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23956225[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16501"	"2021-09-14"
"GENCC_000110-HGNC_7577-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:7577"	"MYH7"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7577"	"MYH7"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11106718[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16501"	"2021-09-14"
"GENCC_000110-HGNC_7577-Orphanet_53698-HP_0000006-GENCC_100009"	"HGNC:7577"	"MYH7"	"MONDO:0018889"	"hyaline body myopathy"	"Orphanet:53698"	"Orphanet:53698"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7577"	"MYH7"	"Orphanet:53698"	"Hyaline body myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15136674[PMID]_25666907[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16501"	"2021-09-14"
"GENCC_000110-HGNC_7577-Orphanet_54260-HP_0000006-GENCC_100009"	"HGNC:7577"	"MYH7"	"MONDO:0018901"	"left ventricular noncompaction"	"Orphanet:54260"	"Orphanet:54260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7577"	"MYH7"	"Orphanet:54260"	"Left ventricular noncompaction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25415959[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16501"	"2021-09-14"
"GENCC_000110-HGNC_7577-Orphanet_59135-HP_0000006-GENCC_100009"	"HGNC:7577"	"MYH7"	"MONDO:0008050"	"MYH7-related skeletal myopathy"	"Orphanet:59135"	"Orphanet:59135"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7577"	"MYH7"	"Orphanet:59135"	"Laing early-onset distal myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301606[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16501"	"2021-09-14"
"GENCC_000110-HGNC_7577-Orphanet_437572-HP_0000006-GENCC_100009"	"HGNC:7577"	"MYH7"	"MONDO:0008409"	"congenital myopathy 7A, myosin storage, autosomal dominant"	"Orphanet:437572"	"Orphanet:437572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7577"	"MYH7"	"Orphanet:437572"	"MYH7-related late-onset scapuloperoneal muscular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17336526[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16501"	"2021-09-14"
"GENCC_000110-HGNC_7578-Orphanet_3377-HP_0000006-GENCC_100009"	"HGNC:7578"	"MYH8"	"MONDO:0008016"	"trismus-pseudocamptodactyly syndrome"	"Orphanet:3377"	"Orphanet:3377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7578"	"MYH8"	"Orphanet:3377"	"Trismus-pseudocamptodactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17041932[PMID]_18049072[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16502"	"2021-09-14"
"GENCC_000110-HGNC_7579-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:7579"	"MYH9"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7579"	"MYH9"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16503"	"2021-09-14"
"GENCC_000110-HGNC_7579-Orphanet_182050-HP_0000006-GENCC_100009"	"HGNC:7579"	"MYH9"	"MONDO:0015912"	"macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	"Orphanet:182050"	"Orphanet:182050"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7579"	"MYH9"	"Orphanet:182050"	"MYH9-related disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16503"	"2021-09-14"
"GENCC_000110-HGNC_7583-Orphanet_2020-HP_0000006-GENCC_100009"	"HGNC:7583"	"MYL2"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"Orphanet:2020"	"Orphanet:2020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7583"	"MYL2"	"Orphanet:2020"	"Congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23365102[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16504"	"2021-09-14"
"GENCC_000110-HGNC_7594-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:7594"	"MYO15A"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7594"	"MYO15A"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16507"	"2021-09-14"
"GENCC_000110-HGNC_7602-Orphanet_79478-HP_0000007-GENCC_100009"	"HGNC:7602"	"MYO5A"	"MONDO:0012220"	"Griscelli syndrome type 3"	"Orphanet:79478"	"Orphanet:79478"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7602"	"MYO5A"	"Orphanet:79478"	"Griscelli syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12897212[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16508"	"2021-09-14"
"GENCC_000110-HGNC_7605-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:7605"	"MYO6"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7605"	"MYO6"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16509"	"2021-09-14"
"GENCC_000110-HGNC_7605-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:7605"	"MYO6"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7605"	"MYO6"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16509"	"2021-09-14"
"GENCC_000110-HGNC_7605-Orphanet_228012-HP_0000006-GENCC_100009"	"HGNC:7605"	"MYO6"	"MONDO:0016424"	"progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"	"Orphanet:228012"	"Orphanet:228012"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7605"	"MYO6"	"Orphanet:228012"	"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15060111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16509"	"2021-09-14"
"GENCC_000110-HGNC_7606-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:7606"	"MYO7A"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7606"	"MYO7A"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16510"	"2021-09-14"
"GENCC_000110-HGNC_7606-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:7606"	"MYO7A"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7606"	"MYO7A"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16510"	"2021-09-14"
"GENCC_000110-HGNC_7606-Orphanet_231169-HP_0000007-GENCC_100009"	"HGNC:7606"	"MYO7A"	"MONDO:0010168"	"Usher syndrome type 1"	"Orphanet:231169"	"Orphanet:231169"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7606"	"MYO7A"	"Orphanet:231169"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16510"	"2021-09-14"
"GENCC_000110-HGNC_7606-Orphanet_231178-HP_0000007-GENCC_100009"	"HGNC:7606"	"MYO7A"	"MONDO:0016484"	"Usher syndrome type 2"	"Orphanet:231178"	"Orphanet:231178"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7606"	"MYO7A"	"Orphanet:231178"	"Usher syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24831256[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16510"	"2021-09-14"
"GENCC_000110-HGNC_7610-Orphanet_98976-HP_0000006-GENCC_100009"	"HGNC:7610"	"MYOC"	"MONDO:0020366"	"congenital glaucoma"	"Orphanet:98976"	"Orphanet:98976"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7610"	"MYOC"	"Orphanet:98976"	"Congenital glaucoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21730848[PMID]_15733270[PMID]_21168818[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16511"	"2021-09-14"
"GENCC_000110-HGNC_7610-Orphanet_98977-HP_0000006-GENCC_100009"	"HGNC:7610"	"MYOC"	"MONDO:0020367"	"juvenile open angle glaucoma"	"Orphanet:98977"	"Orphanet:98977"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7610"	"MYOC"	"Orphanet:98977"	"Juvenile glaucoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21730848[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16511"	"2021-09-14"
"GENCC_000110-HGNC_12399-Orphanet_268129-HP_0000006-GENCC_100009"	"HGNC:12399"	"MYOT"	"MONDO:0008448"	"spheroid body myopathy"	"Orphanet:268129"	"Orphanet:268129"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12399"	"MYOT"	"Orphanet:268129"	"Spheroid body myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16380616[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16512"	"2021-09-14"
"GENCC_000110-HGNC_7631-Orphanet_79279-HP_0000007-GENCC_100009"	"HGNC:7631"	"NAGA"	"MONDO:0012221"	"alpha-N-acetylgalactosaminidase deficiency type 1"	"Orphanet:79279"	"Orphanet:79279"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7631"	"NAGA"	"Orphanet:79279"	"Alpha-N-acetylgalactosaminidase deficiency type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16513"	"2021-09-14"
"GENCC_000110-HGNC_7631-Orphanet_79280-HP_0000007-GENCC_100009"	"HGNC:7631"	"NAGA"	"MONDO:0012222"	"alpha-N-acetylgalactosaminidase deficiency type 2"	"Orphanet:79280"	"Orphanet:79280"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7631"	"NAGA"	"Orphanet:79280"	"Alpha-N-acetylgalactosaminidase deficiency type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16513"	"2021-09-14"
"GENCC_000110-HGNC_7631-Orphanet_79281-HP_0000007-GENCC_100009"	"HGNC:7631"	"NAGA"	"MONDO:0019264"	"alpha-N-acetylgalactosaminidase deficiency type 3"	"Orphanet:79281"	"Orphanet:79281"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7631"	"NAGA"	"Orphanet:79281"	"Alpha-N-acetylgalactosaminidase deficiency type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16513"	"2021-09-14"
"GENCC_000110-HGNC_7632-Orphanet_79270-HP_0000007-GENCC_100009"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"Orphanet:79270"	"Orphanet:79270"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7632"	"NAGLU"	"Orphanet:79270"	"Sanfilippo syndrome type B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16151907[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16514"	"2021-09-14"
"GENCC_000110-HGNC_7632-Orphanet_447964-HP_0000006-GENCC_100009"	"HGNC:7632"	"NAGLU"	"MONDO:0014665"	"Charcot-Marie-Tooth disease axonal type 2V"	"Orphanet:447964"	"Orphanet:447964"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7632"	"NAGLU"	"Orphanet:447964"	"Autosomal dominant Charcot-Marie-Tooth disease type 2V"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25818867[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16514"	"2021-09-14"
"GENCC_000110-HGNC_17996-Orphanet_927-HP_0000007-GENCC_100009"	"HGNC:17996"	"NAGS"	"MONDO:0009377"	"hyperammonemia due to N-acetylglutamate synthase deficiency"	"Orphanet:927"	"Orphanet:927"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17996"	"NAGS"	"Orphanet:927"	"Hyperammonemia due to N-acetylglutamate synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301316[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16515"	"2021-09-14"
"GENCC_000110-HGNC_7652-Orphanet_647-HP_0000007-GENCC_100009"	"HGNC:7652"	"NBN"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"Orphanet:647"	"Orphanet:647"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7652"	"NBN"	"Orphanet:647"	"Nijmegen breakage syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301355[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16518"	"2021-09-14"
"GENCC_000110-HGNC_7660-Orphanet_379-HP_0000007-GENCC_100009"	"HGNC:7660"	"NCF1"	"MONDO:0018305"	"chronic granulomatous disease"	"Orphanet:379"	"Orphanet:379"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7660"	"NCF1"	"Orphanet:379"	"Chronic granulomatous disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16519"	"2021-09-14"
"GENCC_000110-HGNC_7661-Orphanet_379-HP_0000007-GENCC_100009"	"HGNC:7661"	"NCF2"	"MONDO:0018305"	"chronic granulomatous disease"	"Orphanet:379"	"Orphanet:379"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7661"	"NCF2"	"Orphanet:379"	"Chronic granulomatous disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16520"	"2021-09-14"
"GENCC_000110-HGNC_7678-Orphanet_649-HP_0001417-GENCC_100009"	"HGNC:7678"	"NDP"	"MONDO:0010691"	"Norrie disease"	"Orphanet:649"	"Orphanet:649"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:7678"	"NDP"	"Orphanet:649"	"Norrie disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9228243[PMID]_20301506[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16523"	"2021-09-14"
"GENCC_000110-HGNC_7678-Orphanet_891-HP_0000006-GENCC_100009"	"HGNC:7678"	"NDP"	"MONDO:0019516"	"exudative vitreoretinopathy"	"Orphanet:891"	"Orphanet:891"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7678"	"NDP"	"Orphanet:891"	"Familial exudative vitreoretinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301506[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16523"	"2021-09-14"
"GENCC_000110-HGNC_7678-Orphanet_91495-HP_0000006-GENCC_100009"	"HGNC:7678"	"NDP"	"MONDO:0019631"	"persistent hyperplastic primary vitreous"	"Orphanet:91495"	"Orphanet:91495"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7678"	"NDP"	"Orphanet:91495"	"Persistent hyperplastic primary vitreous"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301506[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16523"	"2021-09-14"
"GENCC_000110-HGNC_7679-Orphanet_99950-HP_0000007-GENCC_100009"	"HGNC:7679"	"NDRG1"	"MONDO:0011085"	"Charcot-Marie-Tooth disease type 4D"	"Orphanet:99950"	"Orphanet:99950"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7679"	"NDRG1"	"Orphanet:99950"	"Charcot-Marie-Tooth disease type 4D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10831399[PMID]_20301641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16524"	"2021-09-14"
"GENCC_000110-HGNC_28086-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:28086"	"NDUFAF2"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28086"	"NDUFAF2"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16200211[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16525"	"2021-09-14"
"GENCC_000110-HGNC_28086-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:28086"	"NDUFAF2"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28086"	"NDUFAF2"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20818383[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16525"	"2021-09-14"
"GENCC_000110-HGNC_7707-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7707"	"NDUFS1"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7707"	"NDUFS1"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20382551[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16526"	"2021-09-14"
"GENCC_000110-HGNC_7707-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7707"	"NDUFS1"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7707"	"NDUFS1"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15824269[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16526"	"2021-09-14"
"GENCC_000110-HGNC_7708-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:7708"	"NDUFS2"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7708"	"NDUFS2"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28031252[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16527"	"2021-09-14"
"GENCC_000110-HGNC_7708-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7708"	"NDUFS2"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7708"	"NDUFS2"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15576045[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16527"	"2021-09-14"
"GENCC_000110-HGNC_7708-Orphanet_70474-HP_0000007-GENCC_100009"	"HGNC:7708"	"NDUFS2"	"MONDO:0019083"	"Leigh syndrome with cardiomyopathy"	"Orphanet:70474"	"Orphanet:70474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7708"	"NDUFS2"	"Orphanet:70474"	"Leigh syndrome with cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22036843[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16527"	"2021-09-14"
"GENCC_000110-HGNC_7708-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7708"	"NDUFS2"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7708"	"NDUFS2"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23266820[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16527"	"2021-09-14"
"GENCC_000110-HGNC_7710-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7710"	"NDUFS3"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7710"	"NDUFS3"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22499348[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16528"	"2021-09-14"
"GENCC_000110-HGNC_7710-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7710"	"NDUFS3"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7710"	"NDUFS3"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14729820[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16528"	"2021-09-14"
"GENCC_000110-HGNC_7711-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7711"	"NDUFS4"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7711"	"NDUFS4"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9463323[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16529"	"2021-09-14"
"GENCC_000110-HGNC_7711-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7711"	"NDUFS4"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7711"	"NDUFS4"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19107570[PMID]_19364667[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16529"	"2021-09-14"
"GENCC_000110-HGNC_7713-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7713"	"NDUFS6"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7713"	"NDUFS6"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15372108[PMID]_19259137[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16530"	"2021-09-14"
"GENCC_000110-HGNC_7714-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7714"	"NDUFS7"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7714"	"NDUFS7"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16531"	"2021-09-14"
"GENCC_000110-HGNC_7714-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7714"	"NDUFS7"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7714"	"NDUFS7"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17275378[PMID]_17604671[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16531"	"2021-09-14"
"GENCC_000110-HGNC_7715-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7715"	"NDUFS8"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7715"	"NDUFS8"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22499348[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16532"	"2021-09-14"
"GENCC_000110-HGNC_7715-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7715"	"NDUFS8"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7715"	"NDUFS8"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15159508[PMID]_22499348[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16532"	"2021-09-14"
"GENCC_000110-HGNC_7716-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7716"	"NDUFV1"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7716"	"NDUFV1"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16533"	"2021-09-14"
"GENCC_000110-HGNC_7716-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7716"	"NDUFV1"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7716"	"NDUFV1"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21696386[PMID]_22644603[PMID]_23266820[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16533"	"2021-09-14"
"GENCC_000110-HGNC_7717-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7717"	"NDUFV2"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7717"	"NDUFV2"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12754703[PMID]_22644603[PMID]_26008862[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16534"	"2021-09-14"
"GENCC_000110-HGNC_7717-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7717"	"NDUFV2"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7717"	"NDUFV2"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26008862[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16534"	"2021-09-14"
"GENCC_000110-HGNC_7720-Orphanet_33108-HP_0000007-GENCC_100009"	"HGNC:7720"	"NEB"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"Orphanet:33108"	"Orphanet:33108"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7720"	"NEB"	"Orphanet:33108"	"Lethal multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28336317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16535"	"2021-09-14"
"GENCC_000110-HGNC_7720-Orphanet_171430-HP_0000007-GENCC_100009"	"HGNC:7720"	"NEB"	"MONDO:0015735"	"severe congenital nemaline myopathy"	"Orphanet:171430"	"Orphanet:171430"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7720"	"NEB"	"Orphanet:171430"	"Severe congenital nemaline myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16535"	"2021-09-14"
"GENCC_000110-HGNC_7720-Orphanet_171433-HP_0000006-GENCC_100009"	"HGNC:7720"	"NEB"	"MONDO:0015736"	"intermediate nemaline myopathy"	"Orphanet:171433"	"Orphanet:171433"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7720"	"NEB"	"Orphanet:171433"	"Intermediate nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16535"	"2021-09-14"
"GENCC_000110-HGNC_7720-Orphanet_171436-HP_0000006-GENCC_100009"	"HGNC:7720"	"NEB"	"MONDO:0015737"	"typical nemaline myopathy"	"Orphanet:171436"	"Orphanet:171436"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7720"	"NEB"	"Orphanet:171436"	"Typical nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16535"	"2021-09-14"
"GENCC_000110-HGNC_7720-Orphanet_171439-HP_0000006-GENCC_100009"	"HGNC:7720"	"NEB"	"MONDO:0015738"	"childhood-onset nemaline myopathy"	"Orphanet:171439"	"Orphanet:171439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7720"	"NEB"	"Orphanet:171439"	"Childhood-onset nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16535"	"2021-09-14"
"GENCC_000110-HGNC_7739-Orphanet_99939-HP_0000006-GENCC_100009"	"HGNC:7739"	"NEFL"	"MONDO:0011894"	"Charcot-Marie-Tooth disease type 2E"	"Orphanet:99939"	"Orphanet:99939"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7739"	"NEFL"	"Orphanet:99939"	"Autosomal dominant Charcot-Marie-Tooth disease type 2E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16537"	"2021-09-14"
"GENCC_000110-HGNC_7739-Orphanet_101085-HP_0000006-GENCC_100009"	"HGNC:7739"	"NEFL"	"MONDO:0011902"	"Charcot-Marie-Tooth disease type 1F"	"Orphanet:101085"	"Orphanet:101085"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7739"	"NEFL"	"Orphanet:101085"	"Charcot-Marie-Tooth disease type 1F"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16537"	"2021-09-14"
"GENCC_000110-HGNC_7739-Orphanet_228374-HP_0000007-GENCC_100009"	"HGNC:7739"	"NEFL"	"MONDO:0016454"	"Charcot-Marie-Tooth disease type 2B5"	"Orphanet:228374"	"Orphanet:228374"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7739"	"NEFL"	"Orphanet:228374"	"Charcot-Marie-Tooth disease type 2B5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20039262[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16537"	"2021-09-14"
"GENCC_000110-HGNC_29843-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:29843"	"NSMF"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29843"	"NSMF"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16538"	"2021-09-14"
"GENCC_000110-HGNC_7758-Orphanet_812-HP_0000007-GENCC_100009"	"HGNC:7758"	"NEU1"	"MONDO:0019346"	"sialidosis type 1"	"Orphanet:812"	"Orphanet:812"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7758"	"NEU1"	"Orphanet:812"	"Sialidosis type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14517945[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16539"	"2021-09-14"
"GENCC_000110-HGNC_7758-Orphanet_93399-HP_0000007-GENCC_100009"	"HGNC:7758"	"NEU1"	"MONDO:0019681"	"juvenile sialidosis type 2"	"Orphanet:93399"	"Orphanet:93399"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7758"	"NEU1"	"Orphanet:93399"	"Juvenile sialidosis type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19568825[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16539"	"2021-09-14"
"GENCC_000110-HGNC_7758-Orphanet_93400-HP_0000007-GENCC_100009"	"HGNC:7758"	"NEU1"	"MONDO:0019682"	"congenital sialidosis type 2"	"Orphanet:93400"	"Orphanet:93400"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7758"	"NEU1"	"Orphanet:93400"	"Congenital sialidosis type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14695530[PMID]_19568825[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16539"	"2021-09-14"
"GENCC_000110-HGNC_7762-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:7762"	"NEUROD1"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7762"	"NEUROD1"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16540"	"2021-09-14"
"GENCC_000110-HGNC_13806-Orphanet_83620-HP_0000007-GENCC_100009"	"HGNC:13806"	"NEUROG3"	"MONDO:0012479"	"congenital malabsorptive diarrhea 4"	"Orphanet:83620"	"Orphanet:83620"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13806"	"NEUROG3"	"Orphanet:83620"	"Enteric anendocrinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16855267[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16541"	"2021-09-14"
"GENCC_000110-HGNC_7765-Orphanet_638-HP_0000006-GENCC_100009"	"HGNC:7765"	"NF1"	"MONDO:0011035"	"neurofibromatosis-Noonan syndrome"	"Orphanet:638"	"Orphanet:638"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7765"	"NF1"	"Orphanet:638"	"Neurofibromatosis-Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22847776[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16542"	"2021-09-14"
"GENCC_000110-HGNC_7765-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:7765"	"NF1"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7765"	"NF1"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30536464[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16542"	"2021-09-14"
"GENCC_000110-HGNC_7773-Orphanet_637-HP_0000006-GENCC_100009"	"HGNC:7773"	"NF2"	"MONDO:0007039"	"NF2-related schwannomatosis"	"Orphanet:637"	"Orphanet:637"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7773"	"NF2"	"Orphanet:637"	"Neurofibromatosis type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301380[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16543"	"2021-09-14"
"GENCC_000110-HGNC_7808-Orphanet_64752-HP_0000007-GENCC_100009"	"HGNC:7808"	"NGF"	"MONDO:0012092"	"hereditary sensory and autonomic neuropathy type 5"	"Orphanet:64752"	"Orphanet:64752"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7808"	"NGF"	"Orphanet:64752"	"Hereditary sensory and autonomic neuropathy type 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14976160[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16544"	"2021-09-14"
"GENCC_000110-HGNC_21576-Orphanet_501-HP_0000007-GENCC_100009"	"HGNC:21576"	"NHLRC1"	"MONDO:0009697"	"Lafora disease"	"Orphanet:501"	"Orphanet:501"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21576"	"NHLRC1"	"Orphanet:501"	"Lafora disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301563[PMID]_22047982[PMID]_22669944[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16545"	"2021-09-14"
"GENCC_000110-HGNC_7820-Orphanet_627-HP_0001417-GENCC_100009"	"HGNC:7820"	"NHS"	"MONDO:0010545"	"Nance-Horan syndrome"	"Orphanet:627"	"Orphanet:627"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:7820"	"NHS"	"Orphanet:627"	"Nance-Horan syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20332100[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16546"	"2021-09-14"
"GENCC_000110-HGNC_7820-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:7820"	"NHS"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7820"	"NHS"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19414485[PMID]_24968223[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16546"	"2021-09-14"
"GENCC_000110-HGNC_17043-Orphanet_100988-HP_0000006-GENCC_100009"	"HGNC:17043"	"NIPA1"	"MONDO:0010878"	"hereditary spastic paraplegia 6"	"Orphanet:100988"	"Orphanet:100988"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17043"	"NIPA1"	"Orphanet:100988"	"Autosomal dominant spastic paraplegia type 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14508710[PMID]_15643603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16547"	"2021-09-14"
"GENCC_000110-HGNC_28862-Orphanet_199-HP_0000006-GENCC_100009"	"HGNC:28862"	"NIPBL"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"Orphanet:199"	"Orphanet:199"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28862"	"NIPBL"	"Orphanet:199"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16548"	"2021-09-14"
"GENCC_000110-HGNC_2488-Orphanet_1479-HP_0000006-GENCC_100009"	"HGNC:2488"	"NKX2-5"	"MONDO:0007173"	"atrial septal defect 7"	"Orphanet:1479"	"Orphanet:1479"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2488"	"NKX2-5"	"Orphanet:1479"	"Atrial septal defect-atrioventricular conduction defects syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19049681[PMID]_18375255[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16549"	"2021-09-14"
"GENCC_000110-HGNC_2488-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:2488"	"NKX2-5"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2488"	"NKX2-5"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23525379[PMID]_22818067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16549"	"2021-09-14"
"GENCC_000110-HGNC_2488-Orphanet_95713-HP_0000006-GENCC_100009"	"HGNC:2488"	"NKX2-5"	"MONDO:0019855"	"athyreosis"	"Orphanet:95713"	"Orphanet:95713"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2488"	"NKX2-5"	"Orphanet:95713"	"Athyreosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16418214[PMID]_25905381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16549"	"2021-09-14"
"GENCC_000110-HGNC_2488-Orphanet_101351-HP_0000006-GENCC_100009"	"HGNC:2488"	"NKX2-5"	"MONDO:0010066"	"familial isolated congenital asplenia"	"Orphanet:101351"	"Orphanet:101351"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2488"	"NKX2-5"	"Orphanet:101351"	"Familial isolated congenital asplenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22560297[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16549"	"2021-09-14"
"GENCC_000110-HGNC_2488-Orphanet_402075-HP_0000006-GENCC_100009"	"HGNC:2488"	"NKX2-5"	"MONDO:0007194"	"familial bicuspid aortic valve"	"Orphanet:402075"	"Orphanet:402075"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2488"	"NKX2-5"	"Orphanet:402075"	"Familial bicuspid aortic valve"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25438918[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16549"	"2021-09-14"
"GENCC_000110-HGNC_16400-Orphanet_575-HP_0000006-GENCC_100009"	"HGNC:16400"	"NLRP3"	"MONDO:0008633"	"Muckle-Wells syndrome"	"Orphanet:575"	"Orphanet:575"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16400"	"NLRP3"	"Orphanet:575"	"Muckle-Wells syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11687797[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16553"	"2021-09-14"
"GENCC_000110-HGNC_16400-Orphanet_1451-HP_0000006-GENCC_100009"	"HGNC:16400"	"NLRP3"	"MONDO:0011776"	"CINCA syndrome"	"Orphanet:1451"	"Orphanet:1451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16400"	"NLRP3"	"Orphanet:1451"	"CINCA syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15801036[PMID]_12032915[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16553"	"2021-09-14"
"GENCC_000110-HGNC_16400-Orphanet_47045-HP_0000006-GENCC_100009"	"HGNC:16400"	"NLRP3"	"MONDO:0018768"	"familial cold autoinflammatory syndrome"	"Orphanet:47045"	"Orphanet:47045"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16400"	"NLRP3"	"Orphanet:47045"	"Familial cold urticaria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11687797[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16553"	"2021-09-14"
"GENCC_000110-HGNC_22947-Orphanet_254688-HP_0000007-GENCC_100009"	"HGNC:22947"	"NLRP7"	"MONDO:0016785"	"complete hydatidiform mole"	"Orphanet:254688"	"Orphanet:254688"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22947"	"NLRP7"	"Orphanet:254688"	"Complete hydatidiform mole"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19246479[PMID]_24533231[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16554"	"2021-09-14"
"GENCC_000110-HGNC_5331-Orphanet_90340-HP_0000006-GENCC_100009"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"Orphanet:90340"	"Orphanet:90340"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5331"	"NOD2"	"Orphanet:90340"	"Blau syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16556"	"2021-09-14"
"GENCC_000110-HGNC_7866-Orphanet_1412-HP_0000006-GENCC_100009"	"HGNC:7866"	"NOG"	"MONDO:0008521"	"tarsal-carpal coalition syndrome"	"Orphanet:1412"	"Orphanet:1412"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7866"	"NOG"	"Orphanet:1412"	"Tarsal-carpal coalition syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11545688[PMID]_21538686[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16557"	"2021-09-14"
"GENCC_000110-HGNC_7866-Orphanet_3237-HP_0000006-GENCC_100009"	"HGNC:7866"	"NOG"	"MONDO:0017923"	"multiple synostoses syndrome"	"Orphanet:3237"	"Orphanet:3237"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7866"	"NOG"	"Orphanet:3237"	"Multiple synostoses syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20503332[PMID]_25241334[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16557"	"2021-09-14"
"GENCC_000110-HGNC_7866-Orphanet_3250-HP_0000006-GENCC_100009"	"HGNC:7866"	"NOG"	"MONDO:0008511"	"proximal symphalangism"	"Orphanet:3250"	"Orphanet:3250"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7866"	"NOG"	"Orphanet:3250"	"Proximal symphalangism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11846737[PMID]_24326127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16557"	"2021-09-14"
"GENCC_000110-HGNC_7866-Orphanet_140908-HP_0000006-GENCC_100009"	"HGNC:7866"	"NOG"	"MONDO:0012658"	"brachydactyly type B2"	"Orphanet:140908"	"Orphanet:140908"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7866"	"NOG"	"Orphanet:140908"	"Brachydactyly type B2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17668388[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16557"	"2021-09-14"
"GENCC_000110-HGNC_7866-Orphanet_140917-HP_0000006-GENCC_100009"	"HGNC:7866"	"NOG"	"MONDO:0008484"	"stapes ankylosis with broad thumbs and toes"	"Orphanet:140917"	"Orphanet:140917"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7866"	"NOG"	"Orphanet:140917"	"Stapes ankylosis with broad thumbs and toes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12089654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16557"	"2021-09-14"
"GENCC_000110-HGNC_7882-Orphanet_955-HP_0000006-GENCC_100009"	"HGNC:7882"	"NOTCH2"	"MONDO:0007057"	"Acroosteolysis dominant type"	"Orphanet:955"	"Orphanet:955"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7882"	"NOTCH2"	"Orphanet:955"	"Hajdu-Cheney syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21378985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16558"	"2021-09-14"
"GENCC_000110-HGNC_7883-Orphanet_136-HP_0000006-GENCC_100009"	"HGNC:7883"	"NOTCH3"	"MONDO:0000914"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"	"Orphanet:136"	"Orphanet:136"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7883"	"NOTCH3"	"Orphanet:136"	"Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301673[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16559"	"2021-09-14"
"GENCC_000110-HGNC_7883-Orphanet_2789-HP_0000006-GENCC_100009"	"HGNC:7883"	"NOTCH3"	"MONDO:0007537"	"lateral meningocele syndrome"	"Orphanet:2789"	"Orphanet:2789"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7883"	"NOTCH3"	"Orphanet:2789"	"Lateral meningocele syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25394726[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16559"	"2021-09-14"
"GENCC_000110-HGNC_7883-Orphanet_2591-HP_0000006-GENCC_100009"	"HGNC:7883"	"NOTCH3"	"MONDO:0016824"	"infantile myofibromatosis"	"Orphanet:2591"	"Orphanet:2591"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7883"	"NOTCH3"	"Orphanet:2591"	"Infantile myofibromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23731542[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16559"	"2021-09-14"
"GENCC_000110-HGNC_7892-Orphanet_760-HP_0000007-GENCC_100009"	"HGNC:7892"	"PNP"	"MONDO:0013171"	"purine nucleoside phosphorylase deficiency"	"Orphanet:760"	"Orphanet:760"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7892"	"PNP"	"Orphanet:760"	"Purine nucleoside phosphorylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11453975[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16560"	"2021-09-14"
"GENCC_000110-HGNC_7897-Orphanet_216972-HP_0000007-GENCC_100009"	"HGNC:7897"	"NPC1"	"MONDO:0016306"	"Niemann-Pick disease type C, severe perinatal form"	"Orphanet:216972"	"Orphanet:216972"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7897"	"NPC1"	"Orphanet:216972"	"Niemann-Pick disease type C, severe perinatal form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16561"	"2021-09-14"
"GENCC_000110-HGNC_7897-Orphanet_216975-HP_0000007-GENCC_100009"	"HGNC:7897"	"NPC1"	"MONDO:0016307"	"Niemann-Pick disease type C, severe early infantile neurologic onset"	"Orphanet:216975"	"Orphanet:216975"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7897"	"NPC1"	"Orphanet:216975"	"Niemann-Pick disease type C, severe early infantile neurologic onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16561"	"2021-09-14"
"GENCC_000110-HGNC_7897-Orphanet_216978-HP_0000007-GENCC_100009"	"HGNC:7897"	"NPC1"	"MONDO:0016308"	"Niemann-Pick disease type C, late infantile neurologic onset"	"Orphanet:216978"	"Orphanet:216978"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7897"	"NPC1"	"Orphanet:216978"	"Niemann-Pick disease type C, late infantile neurologic onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16561"	"2021-09-14"
"GENCC_000110-HGNC_7897-Orphanet_216981-HP_0000007-GENCC_100009"	"HGNC:7897"	"NPC1"	"MONDO:0016309"	"Niemann-Pick disease type C, juvenile neurologic onset"	"Orphanet:216981"	"Orphanet:216981"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7897"	"NPC1"	"Orphanet:216981"	"Niemann-Pick disease type C, juvenile neurologic onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16561"	"2021-09-14"
"GENCC_000110-HGNC_7897-Orphanet_216986-HP_0000007-GENCC_100009"	"HGNC:7897"	"NPC1"	"MONDO:0016310"	"Niemann-Pick disease type C, adult neurologic onset"	"Orphanet:216986"	"Orphanet:216986"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7897"	"NPC1"	"Orphanet:216986"	"Niemann-Pick disease type C, adult neurologic onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16561"	"2021-09-14"
"GENCC_000110-HGNC_14537-Orphanet_216972-HP_0000007-GENCC_100009"	"HGNC:14537"	"NPC2"	"MONDO:0016306"	"Niemann-Pick disease type C, severe perinatal form"	"Orphanet:216972"	"Orphanet:216972"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14537"	"NPC2"	"Orphanet:216972"	"Niemann-Pick disease type C, severe perinatal form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16562"	"2021-09-14"
"GENCC_000110-HGNC_14537-Orphanet_216975-HP_0000007-GENCC_100009"	"HGNC:14537"	"NPC2"	"MONDO:0016307"	"Niemann-Pick disease type C, severe early infantile neurologic onset"	"Orphanet:216975"	"Orphanet:216975"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14537"	"NPC2"	"Orphanet:216975"	"Niemann-Pick disease type C, severe early infantile neurologic onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16562"	"2021-09-14"
"GENCC_000110-HGNC_14537-Orphanet_216978-HP_0000007-GENCC_100009"	"HGNC:14537"	"NPC2"	"MONDO:0016308"	"Niemann-Pick disease type C, late infantile neurologic onset"	"Orphanet:216978"	"Orphanet:216978"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14537"	"NPC2"	"Orphanet:216978"	"Niemann-Pick disease type C, late infantile neurologic onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16562"	"2021-09-14"
"GENCC_000110-HGNC_14537-Orphanet_216981-HP_0000007-GENCC_100009"	"HGNC:14537"	"NPC2"	"MONDO:0016309"	"Niemann-Pick disease type C, juvenile neurologic onset"	"Orphanet:216981"	"Orphanet:216981"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14537"	"NPC2"	"Orphanet:216981"	"Niemann-Pick disease type C, juvenile neurologic onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16562"	"2021-09-14"
"GENCC_000110-HGNC_14537-Orphanet_216986-HP_0000007-GENCC_100009"	"HGNC:14537"	"NPC2"	"MONDO:0016310"	"Niemann-Pick disease type C, adult neurologic onset"	"Orphanet:216986"	"Orphanet:216986"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14537"	"NPC2"	"Orphanet:216986"	"Niemann-Pick disease type C, adult neurologic onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16562"	"2021-09-14"
"GENCC_000110-HGNC_7905-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:7905"	"NPHP1"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7905"	"NPHP1"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22819833[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16563"	"2021-09-14"
"GENCC_000110-HGNC_7905-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:7905"	"NPHP1"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7905"	"NPHP1"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24746959[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16563"	"2021-09-14"
"GENCC_000110-HGNC_7905-Orphanet_93592-HP_0000007-GENCC_100009"	"HGNC:7905"	"NPHP1"	"MONDO:0009728"	"nephronophthisis 1"	"Orphanet:93592"	"Orphanet:93592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7905"	"NPHP1"	"Orphanet:93592"	"Juvenile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16563"	"2021-09-14"
"GENCC_000110-HGNC_7905-Orphanet_220497-HP_0000007-GENCC_100009"	"HGNC:7905"	"NPHP1"	"MONDO:0012308"	"Joubert syndrome with renal defect"	"Orphanet:220497"	"Orphanet:220497"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7905"	"NPHP1"	"Orphanet:220497"	"Joubert syndrome with renal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20615230[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16563"	"2021-09-14"
"GENCC_000110-HGNC_7907-Orphanet_3032-HP_0000007-GENCC_100009"	"HGNC:7907"	"NPHP3"	"MONDO:0009966"	"NPHP3-related Meckel-like syndrome"	"Orphanet:3032"	"Orphanet:3032"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7907"	"NPHP3"	"Orphanet:3032"	"NPHP3-related Meckel-like syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18371931[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16564"	"2021-09-14"
"GENCC_000110-HGNC_7907-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:7907"	"NPHP3"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7907"	"NPHP3"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22819833[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16564"	"2021-09-14"
"GENCC_000110-HGNC_7907-Orphanet_93589-HP_0000007-GENCC_100009"	"HGNC:7907"	"NPHP3"	"MONDO:0019742"	"late-onset nephronophthisis"	"Orphanet:93589"	"Orphanet:93589"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7907"	"NPHP3"	"Orphanet:93589"	"Late-onset nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16564"	"2021-09-14"
"GENCC_000110-HGNC_7907-Orphanet_93591-HP_0000007-GENCC_100009"	"HGNC:7907"	"NPHP3"	"MONDO:0011190"	"nephronophthisis 2"	"Orphanet:93591"	"Orphanet:93591"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7907"	"NPHP3"	"Orphanet:93591"	"Infantile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26184788[PMID]_18371931[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16564"	"2021-09-14"
"GENCC_000110-HGNC_7907-Orphanet_294415-HP_0000007-GENCC_100009"	"HGNC:7907"	"NPHP3"	"MONDO:0017417"	"renal-hepatic-pancreatic dysplasia"	"Orphanet:294415"	"Orphanet:294415"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7907"	"NPHP3"	"Orphanet:294415"	"Renal-hepatic-pancreatic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20007846[PMID]_18371931[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16564"	"2021-09-14"
"GENCC_000110-HGNC_19104-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:19104"	"NPHP4"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19104"	"NPHP4"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22819833[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16565"	"2021-09-14"
"GENCC_000110-HGNC_19104-Orphanet_93592-HP_0000007-GENCC_100009"	"HGNC:19104"	"NPHP4"	"MONDO:0009728"	"nephronophthisis 1"	"Orphanet:93592"	"Orphanet:93592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19104"	"NPHP4"	"Orphanet:93592"	"Juvenile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16565"	"2021-09-14"
"GENCC_000110-HGNC_7908-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:7908"	"NPHS1"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7908"	"NPHS1"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11854170[PMID]_19812541[PMID]_18614772[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16566"	"2021-09-14"
"GENCC_000110-HGNC_7908-Orphanet_839-HP_0000007-GENCC_100009"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"Orphanet:839"	"Orphanet:839"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7908"	"NPHS1"	"Orphanet:839"	"Congenital nephrotic syndrome, Finnish type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9660941[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16566"	"2021-09-14"
"GENCC_000110-HGNC_13394-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:13394"	"NPHS2"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13394"	"NPHS2"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11805166[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16567"	"2021-09-14"
"GENCC_000110-HGNC_7944-Orphanet_40-HP_0000007-GENCC_100009"	"HGNC:7944"	"NPR2"	"MONDO:0011275"	"acromesomelic dysplasia 1, Maroteaux type"	"Orphanet:40"	"Orphanet:40"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7944"	"NPR2"	"Orphanet:40"	"Acromesomelic dysplasia, Maroteaux type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22691581[PMID]_15146390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16568"	"2021-09-14"
"GENCC_000110-HGNC_7944-Orphanet_329191-HP_0000006-GENCC_100009"	"HGNC:7944"	"NPR2"	"MONDO:0014401"	"tall stature-scoliosis-macrodactyly of the great toes syndrome"	"Orphanet:329191"	"Orphanet:329191"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7944"	"NPR2"	"Orphanet:329191"	"Tall stature-scoliosis-macrodactyly of the great toes syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22870295[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16568"	"2021-09-14"
"GENCC_000110-HGNC_7960-Orphanet_95702-HP_0001417-GENCC_100009"	"HGNC:7960"	"NR0B1"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"Orphanet:95702"	"Orphanet:95702"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:7960"	"NR0B1"	"Orphanet:95702"	"X-linked adrenal hypoplasia congenita"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16569"	"2021-09-14"
"GENCC_000110-HGNC_7974-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:7974"	"NR2E3"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7974"	"NR2E3"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16571"	"2021-09-14"
"GENCC_000110-HGNC_7974-Orphanet_53540-HP_0000007-GENCC_100009"	"HGNC:7974"	"NR2E3"	"MONDO:0100289"	"Goldmann-Favre syndrome"	"Orphanet:53540"	"Orphanet:53540"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7974"	"NR2E3"	"Orphanet:53540"	"Goldmann-Favre syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10655056[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16571"	"2021-09-14"
"GENCC_000110-HGNC_7978-Orphanet_786-HP_0000006-GENCC_100009"	"HGNC:7978"	"NR3C1"	"MONDO:0014421"	"glucocorticoid resistance"	"Orphanet:786"	"Orphanet:786"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7978"	"NR3C1"	"Orphanet:786"	"Generalized glucocorticoid resistance syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23076843[PMID]_19933394[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16572"	"2021-09-14"
"GENCC_000110-HGNC_7979-Orphanet_171871-HP_0000006-GENCC_100009"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"Orphanet:171871"	"Orphanet:171871"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7979"	"NR3C2"	"Orphanet:171871"	"Renal pseudohypoaldosteronism type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16757525[PMID]_19571553[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16573"	"2021-09-14"
"GENCC_000110-HGNC_8002-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:8002"	"NRL"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8002"	"NRL"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16575"	"2021-09-14"
"GENCC_000110-HGNC_14234-Orphanet_821-HP_0000006-GENCC_100009"	"HGNC:14234"	"NSD1"	"MONDO:0019349"	"Sotos syndrome"	"Orphanet:821"	"Orphanet:821"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14234"	"NSD1"	"Orphanet:821"	"Sotos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301652[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16577"	"2021-09-14"
"GENCC_000110-HGNC_13398-Orphanet_139-HP_0001417-GENCC_100009"	"HGNC:13398"	"NSDHL"	"MONDO:0010621"	"CHILD syndrome"	"Orphanet:139"	"Orphanet:139"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:13398"	"NSDHL"	"Orphanet:139"	"CHILD syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10710235[PMID]_11907515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16578"	"2021-09-14"
"GENCC_000110-HGNC_13398-Orphanet_251383-HP_0001417-GENCC_100009"	"HGNC:13398"	"NSDHL"	"MONDO:0010441"	"CK syndrome"	"Orphanet:251383"	"Orphanet:251383"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:13398"	"NSDHL"	"Orphanet:251383"	"CK syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21129721[PMID]_21290788[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16578"	"2021-09-14"
"GENCC_000110-HGNC_17820-Orphanet_35120-HP_0000007-GENCC_100009"	"HGNC:17820"	"NT5C3A"	"MONDO:0009946"	"hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"	"Orphanet:35120"	"Orphanet:35120"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17820"	"NT5C3A"	"Orphanet:35120"	"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11369620[PMID]_12714505[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16580"	"2021-09-14"
"GENCC_000110-HGNC_8031-Orphanet_642-HP_0000007-GENCC_100009"	"HGNC:8031"	"NTRK1"	"MONDO:0009746"	"hereditary sensory and autonomic neuropathy type 4"	"Orphanet:642"	"Orphanet:642"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8031"	"NTRK1"	"Orphanet:642"	"Hereditary sensory and autonomic neuropathy type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301726[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16581"	"2021-09-14"
"GENCC_000110-HGNC_8031-Orphanet_99361-HP_0000006-GENCC_100009"	"HGNC:8031"	"NTRK1"	"MONDO:0007958"	"familial medullary thyroid carcinoma"	"Orphanet:99361"	"Orphanet:99361"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8031"	"NTRK1"	"Orphanet:99361"	"Familial medullary thyroid carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10443680[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16581"	"2021-09-14"
"GENCC_000110-HGNC_8082-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:8082"	"NYX"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8082"	"NYX"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16582"	"2021-09-14"
"GENCC_000110-HGNC_8091-Orphanet_414-HP_0000007-GENCC_100009"	"HGNC:8091"	"OAT"	"MONDO:0009796"	"ornithine aminotransferase deficiency"	"Orphanet:414"	"Orphanet:414"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8091"	"OAT"	"Orphanet:414"	"Gyrate atrophy of choroid and retina"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23076989[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16583"	"2021-09-14"
"GENCC_000110-HGNC_8101-Orphanet_79432-HP_0000007-GENCC_100009"	"HGNC:8101"	"OCA2"	"MONDO:0008746"	"oculocutaneous albinism type 2"	"Orphanet:79432"	"Orphanet:79432"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8101"	"OCA2"	"Orphanet:79432"	"Oculocutaneous albinism type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16584"	"2021-09-14"
"GENCC_000110-HGNC_8108-Orphanet_534-HP_0001417-GENCC_100009"	"HGNC:8108"	"OCRL"	"MONDO:0010645"	"oculocerebrorenal syndrome"	"Orphanet:534"	"Orphanet:534"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8108"	"OCRL"	"Orphanet:534"	"Oculocerebrorenal syndrome of Lowe"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301653[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16585"	"2021-09-14"
"GENCC_000110-HGNC_8108-Orphanet_93623-HP_0001417-GENCC_100009"	"HGNC:8108"	"OCRL"	"MONDO:0010359"	"Dent disease type 2"	"Orphanet:93623"	"Orphanet:93623"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8108"	"OCRL"	"Orphanet:93623"	"Dent disease type 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876375[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16585"	"2021-09-14"
"GENCC_000110-HGNC_2567-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:2567"	"OFD1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2567"	"OFD1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22619378[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16586"	"2021-09-14"
"GENCC_000110-HGNC_2567-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:2567"	"OFD1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2567"	"OFD1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16586"	"2021-09-14"
"GENCC_000110-HGNC_2567-Orphanet_2750-HP_0001417-GENCC_100009"	"HGNC:2567"	"OFD1"	"MONDO:0010702"	"orofaciodigital syndrome I"	"Orphanet:2750"	"Orphanet:2750"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2567"	"OFD1"	"Orphanet:2750"	"Orofaciodigital syndrome type 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301367[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16586"	"2021-09-14"
"GENCC_000110-HGNC_2567-Orphanet_2754-HP_0000007-GENCC_100009"	"HGNC:2567"	"OFD1"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"Orphanet:2754"	"Orphanet:2754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2567"	"OFD1"	"Orphanet:2754"	"Orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16586"	"2021-09-14"
"GENCC_000110-HGNC_8140-Orphanet_1215-HP_0000006-GENCC_100009"	"HGNC:8140"	"OPA1"	"MONDO:0014720"	"autosomal dominant optic atrophy plus syndrome"	"Orphanet:1215"	"Orphanet:1215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8140"	"OPA1"	"Orphanet:1215"	"Autosomal dominant optic atrophy plus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18158317[PMID]_22776096[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16590"	"2021-09-14"
"GENCC_000110-HGNC_8140-Orphanet_98673-HP_0000006-GENCC_100009"	"HGNC:8140"	"OPA1"	"MONDO:0008134"	"autosomal dominant optic atrophy, classic form"	"Orphanet:98673"	"Orphanet:98673"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8140"	"OPA1"	"Orphanet:98673"	"Autosomal dominant optic atrophy, classic form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301426[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16590"	"2021-09-14"
"GENCC_000110-HGNC_8142-Orphanet_67036-HP_0000006-GENCC_100009"	"HGNC:8142"	"OPA3"	"MONDO:0008133"	"optic atrophy 3"	"Orphanet:67036"	"Orphanet:67036"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8142"	"OPA3"	"Orphanet:67036"	"Autosomal dominant optic atrophy and cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15342707[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16591"	"2021-09-14"
"GENCC_000110-HGNC_8142-Orphanet_67047-HP_0000007-GENCC_100009"	"HGNC:8142"	"OPA3"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"Orphanet:67047"	"Orphanet:67047"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8142"	"OPA3"	"Orphanet:67047"	"3-methylglutaconic aciduria type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16591"	"2021-09-14"
"GENCC_000110-HGNC_9936-Orphanet_16-HP_0001417-GENCC_100009"	"HGNC:9936"	"OPN1LW"	"MONDO:0010563"	"blue cone monochromacy"	"Orphanet:16"	"Orphanet:16"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9936"	"OPN1LW"	"Orphanet:16"	"Blue cone monochromatism"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15069569[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16592"	"2021-09-14"
"GENCC_000110-HGNC_9936-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:9936"	"OPN1LW"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9936"	"OPN1LW"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20579627[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16592"	"2021-09-14"
"GENCC_000110-HGNC_4206-Orphanet_16-HP_0001417-GENCC_100009"	"HGNC:4206"	"OPN1MW"	"MONDO:0010563"	"blue cone monochromacy"	"Orphanet:16"	"Orphanet:16"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4206"	"OPN1MW"	"Orphanet:16"	"Blue cone monochromatism"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15069569[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16593"	"2021-09-14"
"GENCC_000110-HGNC_4206-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:4206"	"OPN1MW"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4206"	"OPN1MW"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20579627[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16593"	"2021-09-14"
"GENCC_000110-HGNC_1012-Orphanet_88629-HP_0000006-GENCC_100009"	"HGNC:1012"	"OPN1SW"	"MONDO:0008610"	"blue color blindness"	"Orphanet:88629"	"Orphanet:88629"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1012"	"OPN1SW"	"Orphanet:88629"	"Tritanopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1531728[PMID]_1386496[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16594"	"2021-09-14"
"GENCC_000110-HGNC_17142-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:17142"	"OPTN"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17142"	"OPTN"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16595"	"2021-09-14"
"GENCC_000110-HGNC_21652-Orphanet_85179-HP_0000007-GENCC_100009"	"HGNC:21652"	"OSTM1"	"MONDO:0010866"	"infantile osteopetrosis with neuroaxonal dysplasia"	"Orphanet:85179"	"Orphanet:85179"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21652"	"OSTM1"	"Orphanet:85179"	"Infantile osteopetrosis with neuroaxonal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23685543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16596"	"2021-09-14"
"GENCC_000110-HGNC_8512-Orphanet_664-HP_0001417-GENCC_100009"	"HGNC:8512"	"OTC"	"MONDO:0010703"	"ornithine carbamoyltransferase deficiency"	"Orphanet:664"	"Orphanet:664"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8512"	"OTC"	"Orphanet:664"	"Ornithine transcarbamylase deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24006547[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16597"	"2021-09-14"
"GENCC_000110-HGNC_8515-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:8515"	"OTOF"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8515"	"OTOF"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16598"	"2021-09-14"
"GENCC_000110-HGNC_8522-Orphanet_3157-HP_0000006-GENCC_100009"	"HGNC:8522"	"OTX2"	"MONDO:0008428"	"septooptic dysplasia"	"Orphanet:3157"	"Orphanet:3157"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8522"	"OTX2"	"Orphanet:3157"	"Septo-optic dysplasia spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21396578[PMID]_24802313[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16599"	"2021-09-14"
"GENCC_000110-HGNC_8522-Orphanet_2542-HP_0000006-GENCC_100009"	"HGNC:8522"	"OTX2"	"MONDO:0016764"	"isolated anophthalmia-microphthalmia syndrome"	"Orphanet:2542"	"Orphanet:2542"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8522"	"OTX2"	"Orphanet:2542"	"Isolated microphthalmia-anophthalmia-coloboma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24033328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16599"	"2021-09-14"
"GENCC_000110-HGNC_8522-Orphanet_95494-HP_0000006-GENCC_100009"	"HGNC:8522"	"OTX2"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"Orphanet:95494"	"Orphanet:95494"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8522"	"OTX2"	"Orphanet:95494"	"Combined pituitary hormone deficiencies, genetic forms"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18728160[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16599"	"2021-09-14"
"GENCC_000110-HGNC_8522-Orphanet_99001-HP_0000006-GENCC_100009"	"HGNC:8522"	"OTX2"	"MONDO:0020381"	"patterned macular dystrophy"	"Orphanet:99001"	"Orphanet:99001"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8522"	"OTX2"	"Orphanet:99001"	"Butterfly-shaped pigment dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25293953[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16599"	"2021-09-14"
"GENCC_000110-HGNC_8522-Orphanet_178364-HP_0000006-GENCC_100009"	"HGNC:8522"	"OTX2"	"MONDO:0012413"	"syndromic microphthalmia type 5"	"Orphanet:178364"	"Orphanet:178364"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8522"	"OTX2"	"Orphanet:178364"	"Syndromic microphthalmia type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15846561[PMID]_20396904[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16599"	"2021-09-14"
"GENCC_000110-HGNC_8527-Orphanet_832-HP_0000007-GENCC_100009"	"HGNC:8527"	"OXCT1"	"MONDO:0009492"	"succinyl-CoA:3-ketoacid CoA transferase deficiency"	"Orphanet:832"	"Orphanet:832"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8527"	"OXCT1"	"Orphanet:832"	"Succinyl-CoA:3-oxoacid CoA transferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23420214[PMID]_21296660[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16600"	"2021-09-14"
"GENCC_000110-HGNC_18124-Orphanet_36355-HP_0000007-GENCC_100009"	"HGNC:18124"	"P2RY12"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"Orphanet:36355"	"Orphanet:36355"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18124"	"P2RY12"	"Orphanet:36355"	"Bleeding disorder due to P2Y12 defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11196645[PMID]_12578987[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16601"	"2021-09-14"
"GENCC_000110-HGNC_8565-Orphanet_270-HP_0000006-GENCC_100009"	"HGNC:8565"	"PABPN1"	"MONDO:0008116"	"oculopharyngeal muscular dystrophy"	"Orphanet:270"	"Orphanet:270"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8565"	"PABPN1"	"Orphanet:270"	"Oculopharyngeal muscular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301305[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16602"	"2021-09-14"
"GENCC_000110-HGNC_8582-Orphanet_2209-HP_0000007-GENCC_100009"	"HGNC:8582"	"PAH"	"MONDO:0016366"	"maternal phenylketonuria"	"Orphanet:2209"	"Orphanet:2209"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8582"	"PAH"	"Orphanet:2209"	"Maternal phenylketonuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1915502[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16605"	"2021-09-14"
"GENCC_000110-HGNC_8582-Orphanet_79253-HP_0000007-GENCC_100009"	"HGNC:8582"	"PAH"	"MONDO:0019258"	"mild phenylketonuria"	"Orphanet:79253"	"Orphanet:79253"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8582"	"PAH"	"Orphanet:79253"	"Mild phenylketonuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16605"	"2021-09-14"
"GENCC_000110-HGNC_8582-Orphanet_79254-HP_0000007-GENCC_100009"	"HGNC:8582"	"PAH"	"MONDO:0019259"	"classic phenylketonuria"	"Orphanet:79254"	"Orphanet:79254"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8582"	"PAH"	"Orphanet:79254"	"Classic phenylketonuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16605"	"2021-09-14"
"GENCC_000110-HGNC_8582-Orphanet_79651-HP_0000007-GENCC_100009"	"HGNC:8582"	"PAH"	"MONDO:0019335"	"mild hyperphenylalaninemia"	"Orphanet:79651"	"Orphanet:79651"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8582"	"PAH"	"Orphanet:79651"	"Mild hyperphenylalaninemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16605"	"2021-09-14"
"GENCC_000110-HGNC_8582-Orphanet_293284-HP_0000007-GENCC_100009"	"HGNC:8582"	"PAH"	"MONDO:0017389"	"tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"	"Orphanet:293284"	"Orphanet:293284"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8582"	"PAH"	"Orphanet:293284"	"Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12409276[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16605"	"2021-09-14"
"GENCC_000110-HGNC_8604-Orphanet_93282-HP_0000007-GENCC_100009"	"HGNC:8604"	"PAPSS2"	"MONDO:0019666"	"spondyloepimetaphyseal dysplasia, PAPSS2 type"	"Orphanet:93282"	"Orphanet:93282"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8604"	"PAPSS2"	"Orphanet:93282"	"Spondyloepimetaphyseal dysplasia, PAPSS2 type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9771708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16607"	"2021-09-14"
"GENCC_000110-HGNC_8604-Orphanet_448242-HP_0000007-GENCC_100009"	"HGNC:8604"	"PAPSS2"	"MONDO:0018662"	"autosomal recessive brachyolmia"	"Orphanet:448242"	"Orphanet:448242"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8604"	"PAPSS2"	"Orphanet:448242"	"Autosomal recessive brachyolmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791835[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16607"	"2021-09-14"
"GENCC_000110-HGNC_8607-Orphanet_2828-HP_0000007-GENCC_100009"	"HGNC:8607"	"PRKN"	"MONDO:0017279"	"young-onset Parkinson disease"	"Orphanet:2828"	"Orphanet:2828"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8607"	"PRKN"	"Orphanet:2828"	"Young-onset Parkinson disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22166458[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16608"	"2021-09-14"
"GENCC_000110-HGNC_16369-Orphanet_2828-HP_0000007-GENCC_100009"	"HGNC:16369"	"PARK7"	"MONDO:0017279"	"young-onset Parkinson disease"	"Orphanet:2828"	"Orphanet:2828"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16369"	"PARK7"	"Orphanet:2828"	"Young-onset Parkinson disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22166458[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16609"	"2021-09-14"
"GENCC_000110-HGNC_8616-Orphanet_1475-HP_0000006-GENCC_100009"	"HGNC:8616"	"PAX2"	"MONDO:0007352"	"renal coloboma syndrome"	"Orphanet:1475"	"Orphanet:1475"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8616"	"PAX2"	"Orphanet:1475"	"Renal coloboma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22213154[PMID]_20301624[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16610"	"2021-09-14"
"GENCC_000110-HGNC_8616-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:8616"	"PAX2"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8616"	"PAX2"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24676634[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16610"	"2021-09-14"
"GENCC_000110-HGNC_8617-Orphanet_894-HP_0000006-GENCC_100009"	"HGNC:8617"	"PAX3"	"MONDO:0008670"	"Waardenburg syndrome type 1"	"Orphanet:894"	"Orphanet:894"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8617"	"PAX3"	"Orphanet:894"	"Waardenburg syndrome type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301703[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16611"	"2021-09-14"
"GENCC_000110-HGNC_8617-Orphanet_896-HP_0000006-GENCC_100009"	"HGNC:8617"	"PAX3"	"MONDO:0007862"	"Waardenburg syndrome type 3"	"Orphanet:896"	"Orphanet:896"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8617"	"PAX3"	"Orphanet:896"	"Waardenburg syndrome type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8447316[PMID]_7726174[PMID]_12949970[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16611"	"2021-09-14"
"GENCC_000110-HGNC_8617-Orphanet_1529-HP_0000006-GENCC_100009"	"HGNC:8617"	"PAX3"	"MONDO:0007395"	"craniofacial-deafness-hand syndrome"	"Orphanet:1529"	"Orphanet:1529"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8617"	"PAX3"	"Orphanet:1529"	"Craniofacial-deafness-hand syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8664898[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16611"	"2021-09-14"
"GENCC_000110-HGNC_8620-Orphanet_1065-HP_0000006-GENCC_100009"	"HGNC:8620"	"PAX6"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"Orphanet:1065"	"Orphanet:1065"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8620"	"PAX6"	"Orphanet:1065"	"Aniridia-cerebellar ataxia-intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17595013[PMID]_17148041[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16612"	"2021-09-14"
"GENCC_000110-HGNC_8620-Orphanet_2253-HP_0000006-GENCC_100009"	"HGNC:8620"	"PAX6"	"MONDO:0016395"	"foveal hypoplasia-presenile cataract syndrome"	"Orphanet:2253"	"Orphanet:2253"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8620"	"PAX6"	"Orphanet:2253"	"Foveal hypoplasia-presenile cataract syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9931324[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16612"	"2021-09-14"
"GENCC_000110-HGNC_8620-Orphanet_2334-HP_0000006-GENCC_100009"	"HGNC:8620"	"PAX6"	"MONDO:0007848"	"autosomal dominant keratitis"	"Orphanet:2334"	"Orphanet:2334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8620"	"PAX6"	"Orphanet:2334"	"Autosomal dominant keratitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7668281[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16612"	"2021-09-14"
"GENCC_000110-HGNC_8620-Orphanet_708-HP_0000006-GENCC_100009"	"HGNC:8620"	"PAX6"	"MONDO:0011414"	"Peters anomaly"	"Orphanet:708"	"Orphanet:708"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8620"	"PAX6"	"Orphanet:708"	"Peters anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8162071[PMID]_10441571[PMID]_15090434[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16612"	"2021-09-14"
"GENCC_000110-HGNC_8620-Orphanet_137902-HP_0000006-GENCC_100009"	"HGNC:8620"	"PAX6"	"MONDO:0008136"	"isolated optic nerve hypoplasia"	"Orphanet:137902"	"Orphanet:137902"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8620"	"PAX6"	"Orphanet:137902"	"Isolated optic nerve hypoplasia/aplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12721955[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16612"	"2021-09-14"
"GENCC_000110-HGNC_8620-Orphanet_250923-HP_0000006-GENCC_100009"	"HGNC:8620"	"PAX6"	"MONDO:0007119"	"isolated aniridia"	"Orphanet:250923"	"Orphanet:250923"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8620"	"PAX6"	"Orphanet:250923"	"Isolated aniridia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301534[PMID]_9138149[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16612"	"2021-09-14"
"GENCC_000110-HGNC_8622-Orphanet_95713-HP_0000006-GENCC_100009"	"HGNC:8622"	"PAX8"	"MONDO:0019855"	"athyreosis"	"Orphanet:95713"	"Orphanet:95713"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8622"	"PAX8"	"Orphanet:95713"	"Athyreosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25905381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16614"	"2021-09-14"
"GENCC_000110-HGNC_8622-Orphanet_95720-HP_0000006-GENCC_100009"	"HGNC:8622"	"PAX8"	"MONDO:0019861"	"thyroid hypoplasia"	"Orphanet:95720"	"Orphanet:95720"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8622"	"PAX8"	"Orphanet:95720"	"Thyroid hypoplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11232006[PMID]_11502839[PMID]_25146893[PMID]_25905381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16614"	"2021-09-14"
"GENCC_000110-HGNC_8623-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:8623"	"PAX9"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8623"	"PAX9"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16615"	"2021-09-14"
"GENCC_000110-HGNC_8636-Orphanet_353308-HP_0000007-GENCC_100009"	"HGNC:8636"	"PC"	"MONDO:0018141"	"pyruvate carboxylase deficiency, infantile form"	"Orphanet:353308"	"Orphanet:353308"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8636"	"PC"	"Orphanet:353308"	"Pyruvate carboxylase deficiency, infantile type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301764[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16616"	"2021-09-14"
"GENCC_000110-HGNC_8636-Orphanet_353314-HP_0000007-GENCC_100009"	"HGNC:8636"	"PC"	"MONDO:0018142"	"pyruvate carboxylase deficiency, severe neonatal type"	"Orphanet:353314"	"Orphanet:353314"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8636"	"PC"	"Orphanet:353314"	"Pyruvate carboxylase deficiency, severe neonatal type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301764[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16616"	"2021-09-14"
"GENCC_000110-HGNC_8636-Orphanet_353320-HP_0000007-GENCC_100009"	"HGNC:8636"	"PC"	"MONDO:0018143"	"pyruvate carboxylase deficiency, benign type"	"Orphanet:353320"	"Orphanet:353320"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8636"	"PC"	"Orphanet:353320"	"Pyruvate carboxylase deficiency, benign type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301764[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16616"	"2021-09-14"
"GENCC_000110-HGNC_8646-Orphanet_1578-HP_0000007-GENCC_100009"	"HGNC:8646"	"PCBD1"	"MONDO:0009908"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"Orphanet:1578"	"Orphanet:1578"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8646"	"PCBD1"	"Orphanet:1578"	"Pterin-4 alpha-carbinolamine dehydratase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9760199[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16617"	"2021-09-14"
"GENCC_000110-HGNC_8653-Orphanet_35-HP_0000007-GENCC_100009"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"propionic acidemia"	"Orphanet:35"	"Orphanet:35"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8653"	"PCCA"	"Orphanet:35"	"Propionic acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22593918[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16618"	"2021-09-14"
"GENCC_000110-HGNC_8654-Orphanet_35-HP_0000007-GENCC_100009"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"propionic acidemia"	"Orphanet:35"	"Orphanet:35"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8654"	"PCCB"	"Orphanet:35"	"Propionic acidemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22593918[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16619"	"2021-09-14"
"GENCC_000110-HGNC_14674-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:14674"	"PCDH15"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14674"	"PCDH15"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16620"	"2021-09-14"
"GENCC_000110-HGNC_14674-Orphanet_231169-HP_0000007-GENCC_100009"	"HGNC:14674"	"PCDH15"	"MONDO:0010168"	"Usher syndrome type 1"	"Orphanet:231169"	"Orphanet:231169"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14674"	"PCDH15"	"Orphanet:231169"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16620"	"2021-09-14"
"GENCC_000110-HGNC_8724-Orphanet_2880-HP_0000007-GENCC_100009"	"HGNC:8724"	"PCK1"	"MONDO:0017320"	"phosphoenolpyruvate carboxykinase deficiency"	"Orphanet:2880"	"Orphanet:2880"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8724"	"PCK1"	"Orphanet:2880"	"Phosphoenolpyruvate carboxykinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16621"	"2021-09-14"
"GENCC_000110-HGNC_8725-Orphanet_2880-HP_0000007-GENCC_100009"	"HGNC:8725"	"PCK2"	"MONDO:0017320"	"phosphoenolpyruvate carboxykinase deficiency"	"Orphanet:2880"	"Orphanet:2880"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8725"	"PCK2"	"Orphanet:2880"	"Phosphoenolpyruvate carboxykinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"2044592[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16622"	"2021-09-14"
"GENCC_000110-HGNC_8743-Orphanet_71528-HP_0000007-GENCC_100009"	"HGNC:8743"	"PCSK1"	"MONDO:0010961"	"obesity due to prohormone convertase I deficiency"	"Orphanet:71528"	"Orphanet:71528"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8743"	"PCSK1"	"Orphanet:71528"	"Obesity due to prohormone convertase I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9207799[PMID]_17595246[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16624"	"2021-09-14"
"GENCC_000110-HGNC_20001-Orphanet_391665-HP_0000007-GENCC_100009"	"HGNC:20001"	"PCSK9"	"MONDO:0018328"	"homozygous familial hypercholesterolemia"	"Orphanet:391665"	"Orphanet:391665"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20001"	"PCSK9"	"Orphanet:391665"	"Homozygous familial hypercholesterolemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24404629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16625"	"2021-09-14"
"GENCC_000110-HGNC_8761-Orphanet_221061-HP_0000006-GENCC_100009"	"HGNC:8761"	"PDCD10"	"MONDO:0031037"	"famililal cerebral cavernous malformations"	"Orphanet:221061"	"Orphanet:221061"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8761"	"PDCD10"	"Orphanet:221061"	"Familial cerebral cavernous malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301470[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16626"	"2021-09-14"
"GENCC_000110-HGNC_8785-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:8785"	"PDE6A"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8785"	"PDE6A"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16627"	"2021-09-14"
"GENCC_000110-HGNC_8786-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:8786"	"PDE6B"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8786"	"PDE6B"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16628"	"2021-09-14"
"GENCC_000110-HGNC_8786-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:8786"	"PDE6B"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8786"	"PDE6B"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8075643[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16628"	"2021-09-14"
"GENCC_000110-HGNC_8806-Orphanet_79243-HP_0001417-GENCC_100009"	"HGNC:8806"	"PDHA1"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"Orphanet:79243"	"Orphanet:79243"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8806"	"PDHA1"	"Orphanet:79243"	"Pyruvate dehydrogenase E1-alpha deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10679936[PMID]_15384102[PMID]_20002461[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16631"	"2021-09-14"
"GENCC_000110-HGNC_8806-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:8806"	"PDHA1"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8806"	"PDHA1"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8498846[PMID]_15384102[PMID]_20002461[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16631"	"2021-09-14"
"GENCC_000110-HGNC_8808-Orphanet_255138-HP_0000007-GENCC_100009"	"HGNC:8808"	"PDHB"	"MONDO:0013580"	"pyruvate dehydrogenase E1-beta deficiency"	"Orphanet:255138"	"Orphanet:255138"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8808"	"PDHB"	"Orphanet:255138"	"Pyruvate dehydrogenase E1-beta deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15138885[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16632"	"2021-09-14"
"GENCC_000110-HGNC_21350-Orphanet_255182-HP_0000007-GENCC_100009"	"HGNC:21350"	"PDHX"	"MONDO:0009503"	"pyruvate dehydrogenase E3-binding protein deficiency"	"Orphanet:255182"	"Orphanet:255182"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21350"	"PDHX"	"Orphanet:255182"	"Pyruvate dehydrogenase E3-binding protein deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9399911[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16633"	"2021-09-14"
"GENCC_000110-HGNC_6107-Orphanet_2805-HP_0000007-GENCC_100009"	"HGNC:6107"	"PDX1"	"MONDO:0009832"	"pancreatic agenesis"	"Orphanet:2805"	"Orphanet:2805"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6107"	"PDX1"	"Orphanet:2805"	"Partial pancreatic agenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8988180[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16634"	"2021-09-14"
"GENCC_000110-HGNC_6107-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:6107"	"PDX1"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6107"	"PDX1"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16634"	"2021-09-14"
"GENCC_000110-HGNC_6107-Orphanet_99885-HP_0000006-GENCC_100009"	"HGNC:6107"	"PDX1"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"Orphanet:99885"	"Orphanet:99885"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6107"	"PDX1"	"Orphanet:99885"	"Isolated permanent neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301620[PMID]_22498247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16634"	"2021-09-14"
"GENCC_000110-HGNC_8840-Orphanet_742-HP_0000007-GENCC_100009"	"HGNC:8840"	"PEPD"	"MONDO:0008221"	"prolidase deficiency"	"Orphanet:742"	"Orphanet:742"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8840"	"PEPD"	"Orphanet:742"	"Prolidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18340504[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16636"	"2021-09-14"
"GENCC_000110-HGNC_8850-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8850"	"PEX1"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8850"	"PEX1"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16637"	"2021-09-14"
"GENCC_000110-HGNC_8851-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8851"	"PEX10"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8851"	"PEX10"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16638"	"2021-09-14"
"GENCC_000110-HGNC_8851-Orphanet_247815-HP_0000007-GENCC_100009"	"HGNC:8851"	"PEX10"	"MONDO:0016614"	"autosomal recessive ataxia due to PEX10 deficiency"	"Orphanet:247815"	"Orphanet:247815"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8851"	"PEX10"	"Orphanet:247815"	"Autosomal recessive ataxia due to PEX10 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20695019[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16638"	"2021-09-14"
"GENCC_000110-HGNC_8854-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8854"	"PEX12"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8854"	"PEX12"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16639"	"2021-09-14"
"GENCC_000110-HGNC_8855-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8855"	"PEX13"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8855"	"PEX13"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16640"	"2021-09-14"
"GENCC_000110-HGNC_8856-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8856"	"PEX14"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8856"	"PEX14"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16641"	"2021-09-14"
"GENCC_000110-HGNC_8857-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8857"	"PEX16"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8857"	"PEX16"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16642"	"2021-09-14"
"GENCC_000110-HGNC_9713-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:9713"	"PEX19"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9713"	"PEX19"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16643"	"2021-09-14"
"GENCC_000110-HGNC_22965-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:22965"	"PEX26"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22965"	"PEX26"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16644"	"2021-09-14"
"GENCC_000110-HGNC_8858-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8858"	"PEX3"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8858"	"PEX3"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16645"	"2021-09-14"
"GENCC_000110-HGNC_9719-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:9719"	"PEX5"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9719"	"PEX5"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16646"	"2021-09-14"
"GENCC_000110-HGNC_9719-Orphanet_468717-HP_0000007-GENCC_100009"	"HGNC:9719"	"PEX5"	"MONDO:0014743"	"rhizomelic chondrodysplasia punctata type 5"	"Orphanet:468717"	"Orphanet:468717"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9719"	"PEX5"	"Orphanet:468717"	"Rhizomelic chondrodysplasia punctata type 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26220973[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16646"	"2021-09-14"
"GENCC_000110-HGNC_8859-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8859"	"PEX6"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8859"	"PEX6"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16647"	"2021-09-14"
"GENCC_000110-HGNC_8859-Orphanet_95433-HP_0000007-GENCC_100009"	"HGNC:8859"	"PEX6"	"MONDO:0010061"	"autosomal recessive cerebellar ataxia-blindness-deafness syndrome"	"Orphanet:95433"	"Orphanet:95433"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8859"	"PEX6"	"Orphanet:95433"	"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26669662[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16647"	"2021-09-14"
"GENCC_000110-HGNC_8860-Orphanet_773-HP_0000007-GENCC_100009"	"HGNC:8860"	"PEX7"	"MONDO:0009958"	"adult Refsum disease"	"Orphanet:773"	"Orphanet:773"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8860"	"PEX7"	"Orphanet:773"	"Refsum disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301527[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16648"	"2021-09-14"
"GENCC_000110-HGNC_8877-Orphanet_371-HP_0000007-GENCC_100009"	"HGNC:8877"	"PFKM"	"MONDO:0009295"	"glycogen storage disease VII"	"Orphanet:371"	"Orphanet:371"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8877"	"PFKM"	"Orphanet:371"	"Glycogen storage disease due to muscle phosphofructokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16649"	"2021-09-14"
"GENCC_000110-HGNC_8896-Orphanet_713-HP_0001417-GENCC_100009"	"HGNC:8896"	"PGK1"	"MONDO:0010392"	"glycogen storage disease due to phosphoglycerate kinase 1 deficiency"	"Orphanet:713"	"Orphanet:713"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8896"	"PGK1"	"Orphanet:713"	"Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1547346[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16650"	"2021-09-14"
"GENCC_000110-HGNC_8905-Orphanet_319646-HP_0000007-GENCC_100009"	"HGNC:8905"	"PGM1"	"MONDO:0013968"	"PGM1-congenital disorder of glycosylation"	"Orphanet:319646"	"Orphanet:319646"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8905"	"PGM1"	"Orphanet:319646"	"PGM1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22492991[PMID]_24499211[PMID]_19625727[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16651"	"2021-09-14"
"GENCC_000110-HGNC_8918-Orphanet_89936-HP_0001417-GENCC_100009"	"HGNC:8918"	"PHEX"	"MONDO:0010619"	"X-linked dominant hypophosphatemic rickets"	"Orphanet:89936"	"Orphanet:89936"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8918"	"PHEX"	"Orphanet:89936"	"X-linked hypophosphatemia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22319799[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16654"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_207-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0007405"	"Crouzon syndrome"	"Orphanet:207"	"Orphanet:207"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:207"	"Crouzon disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_87-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0007041"	"Apert syndrome"	"Orphanet:87"	"Orphanet:87"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:87"	"Apert syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]_23593218[PMID]_15282208[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_83-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0008803"	"Antley-Bixler syndrome"	"Orphanet:83"	"Orphanet:83"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:83"	"Antley-Bixler syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9605588[PMID]_10633130[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_1540-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0007400"	"Jackson-Weiss syndrome"	"Orphanet:1540"	"Orphanet:1540"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:1540"	"Jackson-Weiss syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]_21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_1555-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0007412"	"Beare-Stevenson cutis gyrata syndrome"	"Orphanet:1555"	"Orphanet:1555"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:1555"	"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]_21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_2363-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0007872"	"LADD syndrome"	"Orphanet:2363"	"Orphanet:2363"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:2363"	"Lacrimoauriculodentodigital syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16501574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_93258-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0019659"	"Pfeiffer syndrome type 1"	"Orphanet:93258"	"Orphanet:93258"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:93258"	"Pfeiffer syndrome type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_93259-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0019660"	"Pfeiffer syndrome type 2"	"Orphanet:93259"	"Orphanet:93259"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:93259"	"Pfeiffer syndrome type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_93260-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0019661"	"Pfeiffer syndrome type 3"	"Orphanet:93260"	"Orphanet:93260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:93260"	"Pfeiffer syndrome type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_168624-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0012307"	"familial scaphocephaly syndrome, McGillivray type"	"Orphanet:168624"	"Orphanet:168624"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:168624"	"Familial scaphocephaly syndrome, McGillivray type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16061565[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3689-Orphanet_313855-HP_0000006-GENCC_100009"	"HGNC:3689"	"FGFR2"	"MONDO:0013815"	"bent bone dysplasia syndrome 1"	"Orphanet:313855"	"Orphanet:313855"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3689"	"FGFR2"	"Orphanet:313855"	"FGFR2-related bent bone dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22387015[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16664"	"2021-09-14"
"GENCC_000110-HGNC_3435-Orphanet_910-HP_0000007-GENCC_100009"	"HGNC:3435"	"ERCC3"	"MONDO:0019600"	"xeroderma pigmentosum"	"Orphanet:910"	"Orphanet:910"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3435"	"ERCC3"	"Orphanet:910"	"Xeroderma pigmentosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16665"	"2021-09-14"
"GENCC_000110-HGNC_3435-Orphanet_33364-HP_0000007-GENCC_100009"	"HGNC:3435"	"ERCC3"	"MONDO:0018053"	"trichothiodystrophy"	"Orphanet:33364"	"Orphanet:33364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3435"	"ERCC3"	"Orphanet:33364"	"Trichothiodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12393803[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16665"	"2021-09-14"
"GENCC_000110-HGNC_3435-Orphanet_220295-HP_0000007-GENCC_100009"	"HGNC:3435"	"ERCC3"	"MONDO:0016354"	"xeroderma pigmentosum-Cockayne syndrome complex"	"Orphanet:220295"	"Orphanet:220295"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3435"	"ERCC3"	"Orphanet:220295"	"Xeroderma pigmentosum-Cockayne syndrome complex"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16665"	"2021-09-14"
"GENCC_000110-HGNC_3437-Orphanet_1466-HP_0000007-GENCC_100009"	"HGNC:3437"	"ERCC5"	"MONDO:0008926"	"COFS syndrome"	"Orphanet:1466"	"Orphanet:1466"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3437"	"ERCC5"	"Orphanet:1466"	"COFS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24700531[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16666"	"2021-09-14"
"GENCC_000110-HGNC_3437-Orphanet_910-HP_0000007-GENCC_100009"	"HGNC:3437"	"ERCC5"	"MONDO:0019600"	"xeroderma pigmentosum"	"Orphanet:910"	"Orphanet:910"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3437"	"ERCC5"	"Orphanet:910"	"Xeroderma pigmentosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16666"	"2021-09-14"
"GENCC_000110-HGNC_3437-Orphanet_220295-HP_0000007-GENCC_100009"	"HGNC:3437"	"ERCC5"	"MONDO:0016354"	"xeroderma pigmentosum-Cockayne syndrome complex"	"Orphanet:220295"	"Orphanet:220295"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3437"	"ERCC5"	"Orphanet:220295"	"Xeroderma pigmentosum-Cockayne syndrome complex"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16666"	"2021-09-14"
"GENCC_000110-HGNC_644-Orphanet_481-HP_0001417-GENCC_100009"	"HGNC:644"	"AR"	"MONDO:0010735"	"Kennedy disease"	"Orphanet:481"	"Orphanet:481"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:644"	"AR"	"Orphanet:481"	"Kennedy disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16667"	"2021-09-14"
"GENCC_000110-HGNC_644-Orphanet_90797-HP_0001417-GENCC_100009"	"HGNC:644"	"AR"	"MONDO:0010720"	"partial androgen insensitivity syndrome"	"Orphanet:90797"	"Orphanet:90797"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:644"	"AR"	"Orphanet:90797"	"Partial androgen insensitivity syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301602[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16667"	"2021-09-14"
"GENCC_000110-HGNC_644-Orphanet_99429-HP_0001417-GENCC_100009"	"HGNC:644"	"AR"	"MONDO:0021023"	"complete androgen insensitivity syndrome"	"Orphanet:99429"	"Orphanet:99429"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:644"	"AR"	"Orphanet:99429"	"Complete androgen insensitivity syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301602[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16667"	"2021-09-14"
"GENCC_000110-HGNC_11117-Orphanet_83330-HP_0000007-GENCC_100009"	"HGNC:11117"	"SMN1"	"MONDO:0009669"	"spinal muscular atrophy, type 1"	"Orphanet:83330"	"Orphanet:83330"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11117"	"SMN1"	"Orphanet:83330"	"Proximal spinal muscular atrophy type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301526[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16671"	"2021-09-14"
"GENCC_000110-HGNC_11117-Orphanet_83418-HP_0000007-GENCC_100009"	"HGNC:11117"	"SMN1"	"MONDO:0009673"	"spinal muscular atrophy, type II"	"Orphanet:83418"	"Orphanet:83418"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11117"	"SMN1"	"Orphanet:83418"	"Proximal spinal muscular atrophy type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301526[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16671"	"2021-09-14"
"GENCC_000110-HGNC_11117-Orphanet_83419-HP_0000007-GENCC_100009"	"HGNC:11117"	"SMN1"	"MONDO:0009672"	"spinal muscular atrophy, type III"	"Orphanet:83419"	"Orphanet:83419"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11117"	"SMN1"	"Orphanet:83419"	"Proximal spinal muscular atrophy type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301526[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16671"	"2021-09-14"
"GENCC_000110-HGNC_11117-Orphanet_83420-HP_0000007-GENCC_100009"	"HGNC:11117"	"SMN1"	"MONDO:0010056"	"spinal muscular atrophy, type IV"	"Orphanet:83420"	"Orphanet:83420"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11117"	"SMN1"	"Orphanet:83420"	"Proximal spinal muscular atrophy type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301526[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16671"	"2021-09-14"
"GENCC_000110-HGNC_26648-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:26648"	"BBS12"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26648"	"BBS12"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16699"	"2021-09-14"
"GENCC_000110-HGNC_11609-Orphanet_1802-HP_0000007-GENCC_100009"	"HGNC:11609"	"TBXAS1"	"MONDO:0009274"	"ghosal hematodiaphyseal dysplasia"	"Orphanet:1802"	"Orphanet:1802"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11609"	"TBXAS1"	"Orphanet:1802"	"Ghosal hematodiaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18264100[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16752"	"2021-09-14"
"GENCC_000110-HGNC_560-Orphanet_1568-HP_0001417-GENCC_100009"	"HGNC:560"	"AP1S2"	"MONDO:0010574"	"syndromic X-linked intellectual disability 5"	"Orphanet:1568"	"Orphanet:1568"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:560"	"AP1S2"	"Orphanet:1568"	"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23756445[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16758"	"2021-09-14"
"GENCC_000110-HGNC_560-Orphanet_85335-HP_0001417-GENCC_100009"	"HGNC:560"	"AP1S2"	"MONDO:0019428"	"fried syndrome"	"Orphanet:85335"	"Orphanet:85335"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:560"	"AP1S2"	"Orphanet:85335"	"Fried syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17617514[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16758"	"2021-09-14"
"GENCC_000110-HGNC_4801-Orphanet_746-HP_0000007-GENCC_100009"	"HGNC:4801"	"HADHA"	"MONDO:0012172"	"mitochondrial trifunctional protein deficiency"	"Orphanet:746"	"Orphanet:746"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4801"	"HADHA"	"Orphanet:746"	"Mitochondrial trifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16781"	"2021-09-14"
"GENCC_000110-HGNC_4801-Orphanet_5-HP_0000007-GENCC_100009"	"HGNC:4801"	"HADHA"	"MONDO:0012173"	"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"Orphanet:5"	"Orphanet:5"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4801"	"HADHA"	"Orphanet:5"	"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16781"	"2021-09-14"
"GENCC_000110-HGNC_16473-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:16473"	"NME8"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16473"	"NME8"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16782"	"2021-09-14"
"GENCC_000110-HGNC_22938-Orphanet_247868-HP_0000006-GENCC_100009"	"HGNC:22938"	"NLRP12"	"MONDO:0012724"	"familial cold autoinflammatory syndrome 2"	"Orphanet:247868"	"Orphanet:247868"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:22938"	"NLRP12"	"Orphanet:247868"	"NLRP12-associated hereditary periodic fever syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18230725[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16783"	"2021-09-14"
"GENCC_000110-HGNC_8804-Orphanet_1980-HP_0000006-GENCC_100009"	"HGNC:8804"	"PDGFRB"	"MONDO:0008947"	"bilateral striopallidodentate calcinosis"	"Orphanet:1980"	"Orphanet:1980"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8804"	"PDGFRB"	"Orphanet:1980"	"Bilateral striopallidodentate calcinosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23255827[PMID]_20301594[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16785"	"2021-09-14"
"GENCC_000110-HGNC_8804-Orphanet_2591-HP_0000006-GENCC_100009"	"HGNC:8804"	"PDGFRB"	"MONDO:0016824"	"infantile myofibromatosis"	"Orphanet:2591"	"Orphanet:2591"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8804"	"PDGFRB"	"Orphanet:2591"	"Infantile myofibromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23731537[PMID]_23731542[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16785"	"2021-09-14"
"GENCC_000110-HGNC_8804-Orphanet_363665-HP_0000006-GENCC_100009"	"HGNC:8804"	"PDGFRB"	"MONDO:0011150"	"acroosteolysis-keloid-like lesions-premature aging syndrome"	"Orphanet:363665"	"Orphanet:363665"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8804"	"PDGFRB"	"Orphanet:363665"	"Acroosteolysis-keloid-like lesions-premature aging syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26279204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16785"	"2021-09-14"
"GENCC_000110-HGNC_21734-Orphanet_85442-HP_0000006-GENCC_100009"	"HGNC:21734"	"LHX4"	"MONDO:0009880"	"short stature-pituitary and cerebellar defects-small sella turcica syndrome"	"Orphanet:85442"	"Orphanet:85442"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21734"	"LHX4"	"Orphanet:85442"	"Short stature-pituitary and cerebellar defects-small sella turcica syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11567216[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16786"	"2021-09-14"
"GENCC_000110-HGNC_21734-Orphanet_95494-HP_0000006-GENCC_100009"	"HGNC:21734"	"LHX4"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"Orphanet:95494"	"Orphanet:95494"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21734"	"LHX4"	"Orphanet:95494"	"Combined pituitary hormone deficiencies, genetic forms"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25871839[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16786"	"2021-09-14"
"GENCC_000110-HGNC_21734-Orphanet_95496-HP_0000006-GENCC_100009"	"HGNC:21734"	"LHX4"	"MONDO:0019828"	"pituitary stalk interruption syndrome"	"Orphanet:95496"	"Orphanet:95496"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21734"	"LHX4"	"Orphanet:95496"	"Pituitary stalk interruption syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21270112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16786"	"2021-09-14"
"GENCC_000110-HGNC_21734-Orphanet_226307-HP_0000006-GENCC_100009"	"HGNC:21734"	"LHX4"	"MONDO:0016411"	"hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"Orphanet:226307"	"Orphanet:226307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21734"	"LHX4"	"Orphanet:226307"	"Hypothyroidism due to deficient transcription factors involved in pituitary development or function"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_22851492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16786"	"2021-09-14"
"GENCC_000110-HGNC_11199-Orphanet_3157-HP_0000006-GENCC_100009"	"HGNC:11199"	"SOX3"	"MONDO:0008428"	"septooptic dysplasia"	"Orphanet:3157"	"Orphanet:3157"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11199"	"SOX3"	"Orphanet:3157"	"Septo-optic dysplasia spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17587179[PMID]_21396578[PMID]_24802313[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16787"	"2021-09-14"
"GENCC_000110-HGNC_11199-Orphanet_393-HP_0000006-GENCC_100009"	"HGNC:11199"	"SOX3"	"MONDO:0010766"	"46,XX sex reversal 1"	"Orphanet:393"	"Orphanet:393"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11199"	"SOX3"	"Orphanet:393"	"46,XX testicular disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21183788[PMID]_22678921[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16787"	"2021-09-14"
"GENCC_000110-HGNC_11199-Orphanet_67045-HP_0001417-GENCC_100009"	"HGNC:11199"	"SOX3"	"MONDO:0019032"	"X-linked intellectual disability with isolated growth hormone deficiency"	"Orphanet:67045"	"Orphanet:67045"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11199"	"SOX3"	"Orphanet:67045"	"X-linked intellectual disability with isolated growth hormone deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12428212[PMID]_22139958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16787"	"2021-09-14"
"GENCC_000110-HGNC_11199-Orphanet_79495-HP_0001417-GENCC_100009"	"HGNC:11199"	"SOX3"	"MONDO:0010614"	"X-linked congenital generalized hypertrichosis"	"Orphanet:79495"	"Orphanet:79495"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11199"	"SOX3"	"Orphanet:79495"	"X-linked congenital generalized hypertrichosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21636067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16787"	"2021-09-14"
"GENCC_000110-HGNC_11199-Orphanet_90695-HP_0000007-GENCC_100009"	"HGNC:11199"	"SOX3"	"MONDO:0019591"	"panhypopituitarism"	"Orphanet:90695"	"Orphanet:90695"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11199"	"SOX3"	"Orphanet:90695"	"Non-acquired panhypopituitarism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15800844[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16787"	"2021-09-14"
"GENCC_000110-HGNC_25568-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:25568"	"FANCI"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25568"	"FANCI"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16788"	"2021-09-14"
"GENCC_000110-HGNC_11730-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:11730"	"TERT"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11730"	"TERT"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16789"	"2021-09-14"
"GENCC_000110-HGNC_11730-Orphanet_3322-HP_0000006-GENCC_100009"	"HGNC:11730"	"TERT"	"MONDO:0018045"	"Hoyeraal-Hreidarsson syndrome"	"Orphanet:3322"	"Orphanet:3322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11730"	"TERT"	"Orphanet:3322"	"Hoyeraal-Hreidarsson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17785587[PMID]_23335200[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16789"	"2021-09-14"
"GENCC_000110-HGNC_8066-Orphanet_225154-HP_0000006-GENCC_100009"	"HGNC:8066"	"NUP62"	"MONDO:0010080"	"familial infantile bilateral striatal necrosis"	"Orphanet:225154"	"Orphanet:225154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8066"	"NUP62"	"Orphanet:225154"	"Familial infantile bilateral striatal necrosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16792"	"2021-09-14"
"GENCC_000110-HGNC_10891-Orphanet_107-HP_0000006-GENCC_100009"	"HGNC:10891"	"SIX5"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"Orphanet:107"	"Orphanet:107"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10891"	"SIX5"	"Orphanet:107"	"BOR syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16793"	"2021-09-14"
"GENCC_000110-HGNC_30802-Orphanet_98908-HP_0000007-GENCC_100009"	"HGNC:30802"	"PNPLA2"	"MONDO:0012545"	"neutral lipid storage myopathy"	"Orphanet:98908"	"Orphanet:98908"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30802"	"PNPLA2"	"Orphanet:98908"	"Neutral lipid storage myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17187067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16794"	"2021-09-14"
"GENCC_000110-HGNC_2468-Orphanet_199-HP_0000006-GENCC_100009"	"HGNC:2468"	"SMC3"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"Orphanet:199"	"Orphanet:199"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2468"	"SMC3"	"Orphanet:199"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16795"	"2021-09-14"
"GENCC_000110-HGNC_11957-Orphanet_776-HP_0001417-GENCC_100009"	"HGNC:11957"	"MED12"	"MONDO:0010655"	"X-linked intellectual disability with marfanoid habitus"	"Orphanet:776"	"Orphanet:776"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11957"	"MED12"	"Orphanet:776"	"Lujan-Fryns syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17369503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16796"	"2021-09-14"
"GENCC_000110-HGNC_11957-Orphanet_93932-HP_0001417-GENCC_100009"	"HGNC:11957"	"MED12"	"MONDO:0010590"	"FG syndrome 1"	"Orphanet:93932"	"Orphanet:93932"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11957"	"MED12"	"Orphanet:93932"	"FG syndrome type 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301719[PMID]_17334363[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16796"	"2021-09-14"
"GENCC_000110-HGNC_11957-Orphanet_293707-HP_0001417-GENCC_100009"	"HGNC:11957"	"MED12"	"MONDO:0010477"	"blepharophimosis - intellectual disability syndrome, MKB type"	"Orphanet:293707"	"Orphanet:293707"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11957"	"MED12"	"Orphanet:293707"	"Blepharophimosis-intellectual disability syndrome, MKB type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23395478[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16796"	"2021-09-14"
"GENCC_000110-HGNC_4279-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:4279"	"GJA5"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4279"	"GJA5"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20650941[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16800"	"2021-09-14"
"GENCC_000110-HGNC_22140-Orphanet_1832-HP_0000007-GENCC_100009"	"HGNC:22140"	"FAM20C"	"MONDO:0009821"	"lethal osteosclerotic bone dysplasia"	"Orphanet:1832"	"Orphanet:1832"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22140"	"FAM20C"	"Orphanet:1832"	"Lethal osteosclerotic bone dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25019372[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16801"	"2021-09-14"
"GENCC_000110-HGNC_4318-Orphanet_2162-HP_0000007-GENCC_100009"	"HGNC:4318"	"GLI2"	"MONDO:0016296"	"holoprosencephaly"	"Orphanet:2162"	"Orphanet:2162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4318"	"GLI2"	"Orphanet:2162"	"Holoprosencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29785796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16803"	"2021-09-14"
"GENCC_000110-HGNC_4318-Orphanet_95494-HP_0000006-GENCC_100009"	"HGNC:4318"	"GLI2"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"Orphanet:95494"	"Orphanet:95494"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4318"	"GLI2"	"Orphanet:95494"	"Combined pituitary hormone deficiencies, genetic forms"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20685856[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16803"	"2021-09-14"
"GENCC_000110-HGNC_4318-Orphanet_420584-HP_0000006-GENCC_100009"	"HGNC:4318"	"GLI2"	"MONDO:0014369"	"postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	"Orphanet:420584"	"Orphanet:420584"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4318"	"GLI2"	"Orphanet:420584"	"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24744436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16803"	"2021-09-14"
"GENCC_000110-HGNC_11364-Orphanet_2314-HP_0000006-GENCC_100009"	"HGNC:11364"	"STAT3"	"MONDO:0007818"	"hyper-IgE recurrent infection syndrome 1, autosomal dominant"	"Orphanet:2314"	"Orphanet:2314"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11364"	"STAT3"	"Orphanet:2314"	"Autosomal dominant hyper-IgE syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17881745[PMID]_17676033[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16805"	"2021-09-14"
"GENCC_000110-HGNC_11364-Orphanet_99885-HP_0000006-GENCC_100009"	"HGNC:11364"	"STAT3"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"Orphanet:99885"	"Orphanet:99885"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11364"	"STAT3"	"Orphanet:99885"	"Isolated permanent neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28073828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16805"	"2021-09-14"
"GENCC_000110-HGNC_11364-Orphanet_438159-HP_0000006-GENCC_100009"	"HGNC:11364"	"STAT3"	"MONDO:0014414"	"STAT3-related early-onset multisystem autoimmune disease"	"Orphanet:438159"	"Orphanet:438159"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11364"	"STAT3"	"Orphanet:438159"	"STAT3-related early-onset multisystem autoimmune disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25038750[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16805"	"2021-09-14"
"GENCC_000110-HGNC_30650-Orphanet_2470-HP_0000006-GENCC_100009"	"HGNC:30650"	"STRA6"	"MONDO:0011010"	"Matthew-Wood syndrome"	"Orphanet:2470"	"Orphanet:2470"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30650"	"STRA6"	"Orphanet:2470"	"Matthew-Wood syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17503335[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16806"	"2021-09-14"
"GENCC_000110-HGNC_30650-Orphanet_98938-HP_0000006-GENCC_100009"	"HGNC:30650"	"STRA6"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30650"	"STRA6"	"Orphanet:98938"	"Colobomatous microphthalmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21901792[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16806"	"2021-09-14"
"GENCC_000110-HGNC_9958-Orphanet_97369-HP_0000007-GENCC_100009"	"HGNC:9958"	"REN"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"Orphanet:97369"	"Orphanet:97369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9958"	"REN"	"Orphanet:97369"	"Renal tubular dysgenesis of genetic origin"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16116425[PMID]_22095942[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16807"	"2021-09-14"
"GENCC_000110-HGNC_9958-Orphanet_217330-HP_0000006-GENCC_100009"	"HGNC:9958"	"REN"	"MONDO:0013128"	"familial juvenile hyperuricemic nephropathy type 2"	"Orphanet:217330"	"Orphanet:217330"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9958"	"REN"	"Orphanet:217330"	"REN-related autosomal dominant tubulointerstitial kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21473025[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16807"	"2021-09-14"
"GENCC_000110-HGNC_336-Orphanet_97369-HP_0000007-GENCC_100009"	"HGNC:336"	"AGTR1"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"Orphanet:97369"	"Orphanet:97369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:336"	"AGTR1"	"Orphanet:97369"	"Renal tubular dysgenesis of genetic origin"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16116425[PMID]_22095942[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16808"	"2021-09-14"
"GENCC_000110-HGNC_11123-Orphanet_3063-HP_0001417-GENCC_100009"	"HGNC:11123"	"SMS"	"MONDO:0010664"	"syndromic X-linked intellectual disability Snyder type"	"Orphanet:3063"	"Orphanet:3063"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11123"	"SMS"	"Orphanet:3063"	"X-linked intellectual disability, Snyder type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23805436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16809"	"2021-09-14"
"GENCC_000110-HGNC_14604-Orphanet_35858-HP_0000007-GENCC_100009"	"HGNC:14604"	"AMN"	"MONDO:0009853"	"Imerslund-Grasbeck syndrome"	"Orphanet:35858"	"Orphanet:35858"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14604"	"AMN"	"Orphanet:35858"	"Imerslund-Grõsbeck syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21750092[PMID]_26040326[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16814"	"2021-09-14"
"GENCC_000110-HGNC_19125-Orphanet_99954-HP_0000007-GENCC_100009"	"HGNC:19125"	"FGD4"	"MONDO:0012250"	"Charcot-Marie-Tooth disease type 4H"	"Orphanet:99954"	"Orphanet:99954"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19125"	"FGD4"	"Orphanet:99954"	"Charcot-Marie-Tooth disease type 4H"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23926620[PMID]_20301641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16815"	"2021-09-14"
"GENCC_000110-HGNC_14344-Orphanet_67042-HP_0000006-GENCC_100009"	"HGNC:14344"	"C1QTNF5"	"MONDO:0011579"	"late-onset retinal degeneration"	"Orphanet:67042"	"Orphanet:67042"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14344"	"C1QTNF5"	"Orphanet:67042"	"Late-onset retinal degeneration"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12944416[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16816"	"2021-09-14"
"GENCC_000110-HGNC_5465-Orphanet_73273-HP_0000006-GENCC_100009"	"HGNC:5465"	"IGF1R"	"MONDO:0010038"	"growth delay due to insulin-like growth factor I resistance"	"Orphanet:73273"	"Orphanet:73273"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5465"	"IGF1R"	"Orphanet:73273"	"Growth delay due to insulin-like growth factor I resistance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14657428[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16817"	"2021-09-14"
"GENCC_000110-HGNC_20672-Orphanet_85287-HP_0001417-GENCC_100009"	"HGNC:20672"	"PHF8"	"MONDO:0010286"	"syndromic X-linked intellectual disability Siderius type"	"Orphanet:85287"	"Orphanet:85287"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:20672"	"PHF8"	"Orphanet:85287"	"X-linked intellectual disability, Siderius type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17661819[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16818"	"2021-09-14"
"GENCC_000110-HGNC_4823-Orphanet_93616-HP_0000007-GENCC_100009"	"HGNC:4823"	"HBA1"	"MONDO:0013512"	"hemoglobin H disease"	"Orphanet:93616"	"Orphanet:93616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4823"	"HBA1"	"Orphanet:93616"	"Hemoglobin H disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16819"	"2021-09-14"
"GENCC_000110-HGNC_4823-Orphanet_163596-HP_0000007-GENCC_100009"	"HGNC:4823"	"HBA1"	"MONDO:0015579"	"Hb Bart's hydrops fetalis"	"Orphanet:163596"	"Orphanet:163596"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4823"	"HBA1"	"Orphanet:163596"	"Hb Bart's hydrops fetalis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16819"	"2021-09-14"
"GENCC_000110-HGNC_4823-Orphanet_330041-HP_0000006-GENCC_100009"	"HGNC:4823"	"HBA1"	"MONDO:0018023"	"hemoglobin M disease"	"Orphanet:330041"	"Orphanet:330041"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4823"	"HBA1"	"Orphanet:330041"	"Hemoglobin M disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8416301[PMID]_3026948[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16819"	"2021-09-14"
"GENCC_000110-HGNC_18286-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:18286"	"RAX2"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18286"	"RAX2"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15028672[PMID]_25789692[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16823"	"2021-09-14"
"GENCC_000110-HGNC_9476-Orphanet_199354-HP_0000007-GENCC_100009"	"HGNC:9476"	"HTRA1"	"MONDO:0010829"	"CARASIL syndrome"	"Orphanet:199354"	"Orphanet:199354"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9476"	"HTRA1"	"Orphanet:199354"	"Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20437615[PMID]_22900900[PMID]_21482952[PMID]_21115960[PMID]_19387015[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16824"	"2021-09-14"
"GENCC_000110-HGNC_9476-Orphanet_482077-HP_0000006-GENCC_100009"	"HGNC:9476"	"HTRA1"	"MONDO:0018832"	"HTRA1-related autosomal dominant cerebral small vessel disease"	"Orphanet:482077"	"Orphanet:482077"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9476"	"HTRA1"	"Orphanet:482077"	"HTRA1-related autosomal dominant cerebral small vessel disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26063658[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16824"	"2021-09-14"
"GENCC_000110-HGNC_2577-Orphanet_379-HP_0000007-GENCC_100009"	"HGNC:2577"	"CYBA"	"MONDO:0018305"	"chronic granulomatous disease"	"Orphanet:379"	"Orphanet:379"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2577"	"CYBA"	"Orphanet:379"	"Chronic granulomatous disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16827"	"2021-09-14"
"GENCC_000110-HGNC_9829-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:9829"	"RAF1"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9829"	"RAF1"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17603483[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16828"	"2021-09-14"
"GENCC_000110-HGNC_9829-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:9829"	"RAF1"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9829"	"RAF1"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24777450[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16828"	"2021-09-14"
"GENCC_000110-HGNC_9829-Orphanet_500-HP_0000006-GENCC_100009"	"HGNC:9829"	"RAF1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"Orphanet:500"	"Orphanet:500"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9829"	"RAF1"	"Orphanet:500"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301557[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16828"	"2021-09-14"
"GENCC_000110-HGNC_592-Orphanet_538934-HP_0001417-GENCC_100009"	"HGNC:592"	"XIAP"	"MONDO:0010385"	"X-linked lymphoproliferative disease due to XIAP deficiency"	"Orphanet:538934"	"Orphanet:538934"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:592"	"XIAP"	"Orphanet:538934"	"X-linked lymphoproliferative disease due to XIAP deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301580[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16830"	"2021-09-14"
"GENCC_000110-HGNC_4979-Orphanet_1552-HP_0000006-GENCC_100009"	"HGNC:4979"	"MNX1"	"MONDO:0008305"	"Currarino triad"	"Orphanet:1552"	"Orphanet:1552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4979"	"MNX1"	"Orphanet:1552"	"Currarino syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22820079[PMID]_23370340[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16832"	"2021-09-14"
"GENCC_000110-HGNC_4803-Orphanet_746-HP_0000007-GENCC_100009"	"HGNC:4803"	"HADHB"	"MONDO:0012172"	"mitochondrial trifunctional protein deficiency"	"Orphanet:746"	"Orphanet:746"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4803"	"HADHB"	"Orphanet:746"	"Mitochondrial trifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16834"	"2021-09-14"
"GENCC_000110-HGNC_130-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:130"	"ACTA2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:130"	"ACTA2"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16835"	"2021-09-14"
"GENCC_000110-HGNC_130-Orphanet_404463-HP_0000005-GENCC_100009"	"HGNC:130"	"ACTA2"	"MONDO:0013452"	"multisystemic smooth muscle dysfunction syndrome"	"Orphanet:404463"	"Orphanet:404463"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:130"	"ACTA2"	"Orphanet:404463"	"Multisystemic smooth muscle dysfunction syndrome"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20734336[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16835"	"2021-09-14"
"GENCC_000110-HGNC_19316-Orphanet_216804-HP_0000006-GENCC_100009"	"HGNC:19316"	"P3H1"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"Orphanet:216804"	"Orphanet:216804"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19316"	"P3H1"	"Orphanet:216804"	"Osteogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16837"	"2021-09-14"
"GENCC_000110-HGNC_19316-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:19316"	"P3H1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19316"	"P3H1"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16837"	"2021-09-14"
"GENCC_000110-HGNC_2379-Orphanet_216804-HP_0000006-GENCC_100009"	"HGNC:2379"	"CRTAP"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"Orphanet:216804"	"Orphanet:216804"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2379"	"CRTAP"	"Orphanet:216804"	"Osteogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16838"	"2021-09-14"
"GENCC_000110-HGNC_2379-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:2379"	"CRTAP"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2379"	"CRTAP"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16838"	"2021-09-14"
"GENCC_000110-HGNC_2379-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:2379"	"CRTAP"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2379"	"CRTAP"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16838"	"2021-09-14"
"GENCC_000110-HGNC_1509-Orphanet_275517-HP_0000007-GENCC_100009"	"HGNC:1509"	"CASP8"	"MONDO:0011804"	"autoimmune lymphoproliferative syndrome type 2B"	"Orphanet:275517"	"Orphanet:275517"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1509"	"CASP8"	"Orphanet:275517"	"Autoimmune lymphoproliferative syndrome with recurrent viral infections"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21447005[PMID]_16446975[PMID]_20301287[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16839"	"2021-09-14"
"GENCC_000110-HGNC_388-Orphanet_79303-HP_0000007-GENCC_100009"	"HGNC:388"	"AKR1D1"	"MONDO:0009339"	"congenital bile acid synthesis defect 2"	"Orphanet:79303"	"Orphanet:79303"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:388"	"AKR1D1"	"Orphanet:79303"	"Congenital bile acid synthesis defect type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12970144[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16860"	"2021-09-14"
"GENCC_000110-HGNC_1052-Orphanet_169186-HP_0000007-GENCC_100009"	"HGNC:1052"	"BIN1"	"MONDO:0015705"	"autosomal recessive centronuclear myopathy"	"Orphanet:169186"	"Orphanet:169186"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1052"	"BIN1"	"Orphanet:169186"	"Autosomal recessive centronuclear myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17676042[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16862"	"2021-09-14"
"GENCC_000110-HGNC_1052-Orphanet_169189-HP_0000006-GENCC_100009"	"HGNC:1052"	"BIN1"	"MONDO:0008048"	"autosomal dominant centronuclear myopathy"	"Orphanet:169189"	"Orphanet:169189"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1052"	"BIN1"	"Orphanet:169189"	"Autosomal dominant centronuclear myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25260562[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16862"	"2021-09-14"
"GENCC_000110-HGNC_16171-Orphanet_98993-HP_0000006-GENCC_100009"	"HGNC:16171"	"CHMP4B"	"MONDO:0020378"	"early-onset posterior polar cataract"	"Orphanet:98993"	"Orphanet:98993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16171"	"CHMP4B"	"Orphanet:98993"	"Early-onset posterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17701905[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16864"	"2021-09-14"
"GENCC_000110-HGNC_16171-Orphanet_441447-HP_0000006-GENCC_100009"	"HGNC:16171"	"CHMP4B"	"MONDO:0018610"	"early-onset posterior subcapsular cataract"	"Orphanet:441447"	"Orphanet:441447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16171"	"CHMP4B"	"Orphanet:441447"	"Early-onset posterior subcapsular cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17701905[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16864"	"2021-09-14"
"GENCC_000110-HGNC_3433-Orphanet_1466-HP_0000007-GENCC_100009"	"HGNC:3433"	"ERCC1"	"MONDO:0008926"	"COFS syndrome"	"Orphanet:1466"	"Orphanet:1466"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3433"	"ERCC1"	"Orphanet:1466"	"COFS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17273966[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16865"	"2021-09-14"
"GENCC_000110-HGNC_3433-Orphanet_90322-HP_0000007-GENCC_100009"	"HGNC:3433"	"ERCC1"	"MONDO:0019570"	"Cockayne syndrome type 2"	"Orphanet:90322"	"Orphanet:90322"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3433"	"ERCC1"	"Orphanet:90322"	"Cockayne syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23623389[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16865"	"2021-09-14"
"GENCC_000110-HGNC_3495-Orphanet_71290-HP_0000006-GENCC_100009"	"HGNC:3495"	"ETV6"	"MONDO:0011071"	"hereditary thrombocytopenia and hematologic cancer predisposition syndrome"	"Orphanet:71290"	"Orphanet:71290"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3495"	"ETV6"	"Orphanet:71290"	"Familial platelet disorder with associated myeloid malignancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27365488[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16866"	"2021-09-14"
"GENCC_000110-HGNC_6365-Orphanet_100033-HP_0000007-GENCC_100009"	"HGNC:6365"	"KLK4"	"MONDO:0015048"	"amelogenesis imperfecta type 2"	"Orphanet:100033"	"Orphanet:100033"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6365"	"KLK4"	"Orphanet:100033"	"Hypomaturation amelogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21597265[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16867"	"2021-09-14"
"GENCC_000110-HGNC_29659-Orphanet_2311-HP_0000007-GENCC_100009"	"HGNC:29659"	"MESP2"	"MONDO:0010180"	"autosomal recessive spondylocostal dysostosis"	"Orphanet:2311"	"Orphanet:2311"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29659"	"MESP2"	"Orphanet:2311"	"Autosomal recessive spondylocostal dysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16868"	"2021-09-14"
"GENCC_000110-HGNC_7167-Orphanet_100033-HP_0000007-GENCC_100009"	"HGNC:7167"	"MMP20"	"MONDO:0015048"	"amelogenesis imperfecta type 2"	"Orphanet:100033"	"Orphanet:100033"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7167"	"MMP20"	"Orphanet:100033"	"Hypomaturation amelogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15744043[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16869"	"2021-09-14"
"GENCC_000110-HGNC_14374-Orphanet_352662-HP_0000006-GENCC_100009"	"HGNC:14374"	"NLRP1"	"MONDO:0014089"	"corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	"Orphanet:352662"	"Orphanet:352662"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14374"	"NLRP1"	"Orphanet:352662"	"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23349227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16871"	"2021-09-14"
"GENCC_000110-HGNC_7683-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7683"	"NDUFA1"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7683"	"NDUFA1"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17262856[PMID]_19185523[PMID]_21596602[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16872"	"2021-09-14"
"GENCC_000110-HGNC_26144-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:26144"	"PALB2"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26144"	"PALB2"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16873"	"2021-09-14"
"GENCC_000110-HGNC_30521-Orphanet_90045-HP_0000007-GENCC_100009"	"HGNC:30521"	"SLC46A1"	"MONDO:0009238"	"hereditary folate malabsorption"	"Orphanet:90045"	"Orphanet:90045"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30521"	"SLC46A1"	"Orphanet:90045"	"Hereditary folate malabsorption"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16874"	"2021-09-14"
"GENCC_000110-HGNC_11535-Orphanet_53351-HP_0001417-GENCC_100009"	"HGNC:11535"	"TAF1"	"MONDO:0010747"	"X-linked dystonia-parkinsonism"	"Orphanet:53351"	"Orphanet:53351"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11535"	"TAF1"	"Orphanet:53351"	"X-linked dystonia-parkinsonism"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16876"	"2021-09-14"
"GENCC_000110-HGNC_11535-Orphanet_480907-HP_0001417-GENCC_100009"	"HGNC:11535"	"TAF1"	"MONDO:0018823"	"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"	"Orphanet:480907"	"Orphanet:480907"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11535"	"TAF1"	"Orphanet:480907"	"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26637982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16876"	"2021-09-14"
"GENCC_000110-HGNC_16361-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:16361"	"WHRN"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16361"	"WHRN"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16879"	"2021-09-14"
"GENCC_000110-HGNC_16361-Orphanet_231178-HP_0000007-GENCC_100009"	"HGNC:16361"	"WHRN"	"MONDO:0016484"	"Usher syndrome type 2"	"Orphanet:231178"	"Orphanet:231178"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16361"	"WHRN"	"Orphanet:231178"	"Usher syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16879"	"2021-09-14"
"GENCC_000110-HGNC_16517-Orphanet_209981-HP_0000007-GENCC_100009"	"HGNC:16517"	"TMPRSS6"	"MONDO:0008788"	"IRIDA syndrome"	"Orphanet:209981"	"Orphanet:209981"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16517"	"TMPRSS6"	"Orphanet:209981"	"IRIDA syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19357398[PMID]_20232450[PMID]_25252070[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16926"	"2021-09-14"
"GENCC_000110-HGNC_24797-Orphanet_100032-HP_0000006-GENCC_100009"	"HGNC:24797"	"FAM83H"	"MONDO:0007538"	"amelogenesis imperfecta, type 3A"	"Orphanet:100032"	"Orphanet:100032"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24797"	"FAM83H"	"Orphanet:100032"	"Hypocalcified amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18252228[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16929"	"2021-09-14"
"GENCC_000110-HGNC_3600-Orphanet_404451-HP_0000007-GENCC_100009"	"HGNC:3600"	"FBLN1"	"MONDO:0018443"	"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"	"Orphanet:404451"	"Orphanet:404451"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3600"	"FBLN1"	"Orphanet:404451"	"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24084572[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16930"	"2021-09-14"
"GENCC_000110-HGNC_12840-Orphanet_100045-HP_0000006-GENCC_100009"	"HGNC:12840"	"YARS1"	"MONDO:0012012"	"Charcot-Marie-Tooth disease dominant intermediate C"	"Orphanet:100045"	"Orphanet:100045"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12840"	"YARS1"	"Orphanet:100045"	"Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16429158[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16932"	"2021-09-14"
"GENCC_000110-HGNC_12469-Orphanet_1145-HP_0001417-GENCC_100009"	"HGNC:12469"	"UBA1"	"MONDO:0010532"	"infantile-onset X-linked spinal muscular atrophy"	"Orphanet:1145"	"Orphanet:1145"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:12469"	"UBA1"	"Orphanet:1145"	"Infantile-onset X-linked spinal muscular atrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18179898[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16934"	"2021-09-14"
"GENCC_000110-HGNC_8507-Orphanet_353220-HP_0000006-GENCC_100009"	"HGNC:8507"	"OSMR"	"MONDO:0007101"	"familial primary localized cutaneous amyloidosis"	"Orphanet:353220"	"Orphanet:353220"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8507"	"OSMR"	"Orphanet:353220"	"Familial primary localized cutaneous amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20507362[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16935"	"2021-09-14"
"GENCC_000110-HGNC_3702-Orphanet_97239-HP_0001417-GENCC_100009"	"HGNC:3702"	"FHL1"	"MONDO:0019948"	"reducing body myopathy"	"Orphanet:97239"	"Orphanet:97239"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3702"	"FHL1"	"Orphanet:97239"	"Reducing body myopathy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18274675[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16936"	"2021-09-14"
"GENCC_000110-HGNC_3702-Orphanet_98863-HP_0001417-GENCC_100009"	"HGNC:3702"	"FHL1"	"MONDO:0010680"	"X-linked Emery-Dreifuss muscular dystrophy"	"Orphanet:98863"	"Orphanet:98863"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3702"	"FHL1"	"Orphanet:98863"	"X-linked Emery-Dreifuss muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16936"	"2021-09-14"
"GENCC_000110-HGNC_3702-Orphanet_178461-HP_0001417-GENCC_100009"	"HGNC:3702"	"FHL1"	"MONDO:0010401"	"X-linked myopathy with postural muscle atrophy"	"Orphanet:178461"	"Orphanet:178461"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3702"	"FHL1"	"Orphanet:178461"	"X-linked myopathy with postural muscle atrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18179888[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16936"	"2021-09-14"
"GENCC_000110-HGNC_3702-Orphanet_431272-HP_0001417-GENCC_100009"	"HGNC:3702"	"FHL1"	"MONDO:0010400"	"X-linked scapuloperoneal muscular dystrophy"	"Orphanet:431272"	"Orphanet:431272"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3702"	"FHL1"	"Orphanet:431272"	"X-linked scapuloperoneal muscular dystrophy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18179901[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16936"	"2021-09-14"
"GENCC_000110-HGNC_1071-Orphanet_93100-HP_0000006-GENCC_100009"	"HGNC:1071"	"BMP4"	"MONDO:0019636"	"renal agenesis, unilateral"	"Orphanet:93100"	"Orphanet:93100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1071"	"BMP4"	"Orphanet:93100"	"Renal agenesis, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21900877[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16937"	"2021-09-14"
"GENCC_000110-HGNC_11824-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:11824"	"TINF2"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11824"	"TINF2"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16938"	"2021-09-14"
"GENCC_000110-HGNC_11824-Orphanet_3088-HP_0000006-GENCC_100009"	"HGNC:11824"	"TINF2"	"MONDO:0009990"	"Revesz syndrome"	"Orphanet:3088"	"Orphanet:3088"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11824"	"TINF2"	"Orphanet:3088"	"Revesz syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18252230[PMID]_21477109[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16938"	"2021-09-14"
"GENCC_000110-HGNC_11824-Orphanet_3322-HP_0000006-GENCC_100009"	"HGNC:11824"	"TINF2"	"MONDO:0018045"	"Hoyeraal-Hreidarsson syndrome"	"Orphanet:3322"	"Orphanet:3322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11824"	"TINF2"	"Orphanet:3322"	"Hoyeraal-Hreidarsson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22078571[PMID]_21199492[PMID]_18669893[PMID]_20301779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16938"	"2021-09-14"
"GENCC_000110-HGNC_16812-Orphanet_139485-HP_0000007-GENCC_100009"	"HGNC:16812"	"COQ8A"	"MONDO:0012784"	"autosomal recessive ataxia due to ubiquinone deficiency"	"Orphanet:139485"	"Orphanet:139485"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16812"	"COQ8A"	"Orphanet:139485"	"Autosomal recessive ataxia due to ubiquinone deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16939"	"2021-09-14"
"GENCC_000110-HGNC_23094-Orphanet_247794-HP_0000006-GENCC_100009"	"HGNC:23094"	"SLC16A12"	"MONDO:0012786"	"juvenile cataract-microcornea-renal glucosuria syndrome"	"Orphanet:247794"	"Orphanet:247794"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23094"	"SLC16A12"	"Orphanet:247794"	"Juvenile cataract-microcornea-renal glucosuria syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18304496[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16940"	"2021-09-14"
"GENCC_000110-HGNC_2711-Orphanet_139589-HP_0000006-GENCC_100009"	"HGNC:2711"	"DCTN1"	"MONDO:0015355"	"distal hereditary motor neuropathy type 7"	"Orphanet:139589"	"Orphanet:139589"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2711"	"DCTN1"	"Orphanet:139589"	"Distal hereditary motor neuropathy type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12627231[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16942"	"2021-09-14"
"GENCC_000110-HGNC_2711-Orphanet_178509-HP_0000006-GENCC_100009"	"HGNC:2711"	"DCTN1"	"MONDO:0008201"	"Perry syndrome"	"Orphanet:178509"	"Orphanet:178509"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2711"	"DCTN1"	"Orphanet:178509"	"Perry syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16942"	"2021-09-14"
"GENCC_000110-HGNC_14508-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:14508"	"MRPS22"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14508"	"MRPS22"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29566152[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16943"	"2021-09-14"
"GENCC_000110-HGNC_14508-Orphanet_137908-HP_0000007-GENCC_100009"	"HGNC:14508"	"MRPS22"	"MONDO:0012718"	"hypotonia with lactic acidemia and hyperammonemia"	"Orphanet:137908"	"Orphanet:137908"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14508"	"MRPS22"	"Orphanet:137908"	"Hypotonia with lactic acidemia and hyperammonemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17873122[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16943"	"2021-09-14"
"GENCC_000110-HGNC_21158-Orphanet_137634-HP_0000006-GENCC_100009"	"HGNC:21158"	"RNF135"	"MONDO:0013617"	"overgrowth-macrocephaly-facial dysmorphism syndrome"	"Orphanet:137634"	"Orphanet:137634"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21158"	"RNF135"	"Orphanet:137634"	"Overgrowth-macrocephaly-facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17632510[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16944"	"2021-09-14"
"GENCC_000110-HGNC_31923-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:31923"	"LCA5"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:31923"	"LCA5"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17546029[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16982"	"2021-09-14"
"GENCC_000110-HGNC_31923-Orphanet_364055-HP_0000007-GENCC_100009"	"HGNC:31923"	"LCA5"	"MONDO:0009549"	"severe early-childhood-onset retinal dystrophy"	"Orphanet:364055"	"Orphanet:364055"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:31923"	"LCA5"	"Orphanet:364055"	"Severe early-childhood-onset retinal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23946133[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16982"	"2021-09-14"
"GENCC_000110-HGNC_29168-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:29168"	"RPGRIP1L"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29168"	"RPGRIP1L"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21110233[PMID]_17558409[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16985"	"2021-09-14"
"GENCC_000110-HGNC_29168-Orphanet_1454-HP_0000007-GENCC_100009"	"HGNC:29168"	"RPGRIP1L"	"MONDO:0008996"	"COACH syndrome 1"	"Orphanet:1454"	"Orphanet:1454"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29168"	"RPGRIP1L"	"Orphanet:1454"	"Joubert syndrome with hepatic defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19574260[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16985"	"2021-09-14"
"GENCC_000110-HGNC_29168-Orphanet_220497-HP_0000007-GENCC_100009"	"HGNC:29168"	"RPGRIP1L"	"MONDO:0012308"	"Joubert syndrome with renal defect"	"Orphanet:220497"	"Orphanet:220497"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29168"	"RPGRIP1L"	"Orphanet:220497"	"Joubert syndrome with renal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20615230[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16985"	"2021-09-14"
"GENCC_000110-HGNC_33-Orphanet_440402-HP_0000007-GENCC_100009"	"HGNC:33"	"ABCA3"	"MONDO:0012582"	"interstitial lung disease due to ABCA3 deficiency"	"Orphanet:440402"	"Orphanet:440402"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33"	"ABCA3"	"Orphanet:440402"	"Interstitial lung disease due to ABCA3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22018035[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16988"	"2021-09-14"
"GENCC_000110-HGNC_6776-Orphanet_1377-HP_0000006-GENCC_100009"	"HGNC:6776"	"MAF"	"MONDO:0015300"	"cataract - microcornea syndrome"	"Orphanet:1377"	"Orphanet:1377"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6776"	"MAF"	"Orphanet:1377"	"Cataract-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17982426[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16990"	"2021-09-14"
"GENCC_000110-HGNC_6776-Orphanet_1272-HP_0000007-GENCC_100009"	"HGNC:6776"	"MAF"	"MONDO:0011049"	"Fine-Lubinsky syndrome"	"Orphanet:1272"	"Orphanet:1272"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6776"	"MAF"	"Orphanet:1272"	"AymÚ-Gripp syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25865493[PMID]_8867660[PMID]_8834052[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16990"	"2021-09-14"
"GENCC_000110-HGNC_6776-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:6776"	"MAF"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6776"	"MAF"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11772997[PMID]_12642301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16990"	"2021-09-14"
"GENCC_000110-HGNC_6776-Orphanet_98989-HP_0000006-GENCC_100009"	"HGNC:6776"	"MAF"	"MONDO:0020374"	"cerulean cataract"	"Orphanet:98989"	"Orphanet:98989"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6776"	"MAF"	"Orphanet:98989"	"Cerulean cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16470690[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"16990"	"2021-09-14"
"GENCC_000110-HGNC_11825-Orphanet_1429-HP_0000006-GENCC_100009"	"HGNC:11825"	"NKX2-1"	"MONDO:0001595"	"choreatic disease"	"Orphanet:1429"	"Orphanet:1429"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11825"	"NKX2-1"	"Orphanet:1429"	"Benign hereditary chorea"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12891678[PMID]_16220345[PMID]_24555207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17094"	"2021-09-14"
"GENCC_000110-HGNC_11825-Orphanet_209905-HP_0000006-GENCC_100009"	"HGNC:11825"	"NKX2-1"	"MONDO:0012593"	"brain-lung-thyroid syndrome"	"Orphanet:209905"	"Orphanet:209905"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11825"	"NKX2-1"	"Orphanet:209905"	"Brain-lung-thyroid syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24129101[PMID]_24555207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17094"	"2021-09-14"
"GENCC_000110-HGNC_25538-Orphanet_137898-HP_0000007-GENCC_100009"	"HGNC:25538"	"DARS2"	"MONDO:0012622"	"leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"	"Orphanet:137898"	"Orphanet:137898"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25538"	"DARS2"	"Orphanet:137898"	"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17384640[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17187"	"2021-09-14"
"GENCC_000110-HGNC_9279-Orphanet_79246-HP_0000007-GENCC_100009"	"HGNC:9279"	"PDP1"	"MONDO:0012120"	"pyruvate dehydrogenase phosphatase deficiency"	"Orphanet:79246"	"Orphanet:79246"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9279"	"PDP1"	"Orphanet:79246"	"Pyruvate dehydrogenase phosphatase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15855260[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17188"	"2021-09-14"
"GENCC_000110-HGNC_12266-Orphanet_103909-HP_0000006-GENCC_100009"	"HGNC:12266"	"TREH"	"MONDO:0012803"	"diarrhea-vomiting due to trehalase deficiency"	"Orphanet:103909"	"Orphanet:103909"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12266"	"TREH"	"Orphanet:103909"	"Trehalase deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17189"	"2021-09-14"
"GENCC_000110-HGNC_16268-Orphanet_2377-HP_0000007-GENCC_100009"	"HGNC:16268"	"PNPLA6"	"MONDO:0009514"	"Laurence-Moon syndrome"	"Orphanet:2377"	"Orphanet:2377"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16268"	"PNPLA6"	"Orphanet:2377"	"Laurence-Moon syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25480986[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17190"	"2021-09-14"
"GENCC_000110-HGNC_16268-Orphanet_1173-HP_0000007-GENCC_100009"	"HGNC:16268"	"PNPLA6"	"MONDO:0008935"	"cerebellar ataxia-hypogonadism syndrome"	"Orphanet:1173"	"Orphanet:1173"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16268"	"PNPLA6"	"Orphanet:1173"	"Cerebellar ataxia-hypogonadism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24355708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17190"	"2021-09-14"
"GENCC_000110-HGNC_16268-Orphanet_1180-HP_0000007-GENCC_100009"	"HGNC:16268"	"PNPLA6"	"MONDO:0008980"	"ataxia-hypogonadism-choroidal dystrophy syndrome"	"Orphanet:1180"	"Orphanet:1180"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16268"	"PNPLA6"	"Orphanet:1180"	"Ataxia-hypogonadism-choroidal dystrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24355708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17190"	"2021-09-14"
"GENCC_000110-HGNC_16268-Orphanet_3363-HP_0000007-GENCC_100009"	"HGNC:16268"	"PNPLA6"	"MONDO:0010152"	"trichomegaly-retina pigmentary degeneration-dwarfism syndrome"	"Orphanet:3363"	"Orphanet:3363"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16268"	"PNPLA6"	"Orphanet:3363"	"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25480986[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17190"	"2021-09-14"
"GENCC_000110-HGNC_16268-Orphanet_139480-HP_0000007-GENCC_100009"	"HGNC:16268"	"PNPLA6"	"MONDO:0012787"	"hereditary spastic paraplegia 39"	"Orphanet:139480"	"Orphanet:139480"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16268"	"PNPLA6"	"Orphanet:139480"	"Autosomal recessive spastic paraplegia type 39"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18313024[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17190"	"2021-09-14"
"GENCC_000110-HGNC_10397-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10397"	"RPS17"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10397"	"RPS17"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17196"	"2021-09-14"
"GENCC_000110-HGNC_1068-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:1068"	"BMP15"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1068"	"BMP15"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15136966[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17198"	"2021-09-14"
"GENCC_000110-HGNC_10729-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:10729"	"SEMA4A"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10729"	"SEMA4A"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17199"	"2021-09-14"
"GENCC_000110-HGNC_10729-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:10729"	"SEMA4A"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10729"	"SEMA4A"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16199541[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17199"	"2021-09-14"
"GENCC_000110-HGNC_10729-Orphanet_440437-HP_0000006-GENCC_100009"	"HGNC:10729"	"SEMA4A"	"MONDO:0018604"	"familial colorectal cancer type X"	"Orphanet:440437"	"Orphanet:440437"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10729"	"SEMA4A"	"Orphanet:440437"	"Familial colorectal cancer Type X"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25307848[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17199"	"2021-09-14"
"GENCC_000110-HGNC_10882-Orphanet_369873-HP_0000007-GENCC_100009"	"HGNC:10882"	"SIM1"	"MONDO:0018244"	"obesity due to SIM1 deficiency"	"Orphanet:369873"	"Orphanet:369873"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10882"	"SIM1"	"Orphanet:369873"	"Obesity due to SIM1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23778136[PMID]_23778139[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17202"	"2021-09-14"
"GENCC_000110-HGNC_10989-Orphanet_91130-HP_0000007-GENCC_100009"	"HGNC:10989"	"SLC25A3"	"MONDO:0012557"	"cardiomyopathy-hypotonia-lactic acidosis syndrome"	"Orphanet:91130"	"Orphanet:91130"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10989"	"SLC25A3"	"Orphanet:91130"	"Cardiomyopathy-hypotonia-lactic acidosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17273968[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17204"	"2021-09-14"
"GENCC_000110-HGNC_11005-Orphanet_1942-HP_0000005-GENCC_100009"	"HGNC:11005"	"SLC2A1"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"Orphanet:1942"	"Orphanet:1942"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11005"	"SLC2A1"	"Orphanet:1942"	"Myoclonic-astatic epilepsy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21555602[PMID]_31170314[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17205"	"2021-09-14"
"GENCC_000110-HGNC_11005-Orphanet_53583-HP_0000006-GENCC_100009"	"HGNC:11005"	"SLC2A1"	"MONDO:0010983"	"dystonia 9"	"Orphanet:53583"	"Orphanet:53583"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11005"	"SLC2A1"	"Orphanet:53583"	"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21832227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17205"	"2021-09-14"
"GENCC_000110-HGNC_11005-Orphanet_64280-HP_0000006-GENCC_100009"	"HGNC:11005"	"SLC2A1"	"MONDO:0010826"	"childhood absence epilepsy"	"Orphanet:64280"	"Orphanet:64280"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11005"	"SLC2A1"	"Orphanet:64280"	"Childhood absence epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19798636[PMID]_23280796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17205"	"2021-09-14"
"GENCC_000110-HGNC_11005-Orphanet_71277-HP_0000006-GENCC_100009"	"HGNC:11005"	"SLC2A1"	"MONDO:0011724"	"encephalopathy due to GLUT1 deficiency"	"Orphanet:71277"	"Orphanet:71277"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11005"	"SLC2A1"	"Orphanet:71277"	"Classic glucose transporter type 1 deficiency syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301603[PMID]_23890838[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17205"	"2021-09-14"
"GENCC_000110-HGNC_11005-Orphanet_98811-HP_0000006-GENCC_100009"	"HGNC:11005"	"SLC2A1"	"MONDO:0012805"	"childhood onset GLUT1 deficiency syndrome 2"	"Orphanet:98811"	"Orphanet:98811"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11005"	"SLC2A1"	"Orphanet:98811"	"Paroxysmal exertion-induced dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17205"	"2021-09-14"
"GENCC_000110-HGNC_11005-Orphanet_168577-HP_0000006-GENCC_100009"	"HGNC:11005"	"SLC2A1"	"MONDO:0012143"	"hereditary cryohydrocytosis with reduced stomatin"	"Orphanet:168577"	"Orphanet:168577"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11005"	"SLC2A1"	"Orphanet:168577"	"Hereditary cryohydrocytosis with reduced stomatin"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21791420[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17205"	"2021-09-14"
"GENCC_000110-HGNC_11051-Orphanet_3197-HP_0000006-GENCC_100009"	"HGNC:11051"	"SLC6A5"	"MONDO:0021022"	"hereditary hyperekplexia"	"Orphanet:3197"	"Orphanet:3197"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11051"	"SLC6A5"	"Orphanet:3197"	"Hereditary hyperekplexia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17206"	"2021-09-14"
"GENCC_000110-HGNC_11079-Orphanet_85278-HP_0001417-GENCC_100009"	"HGNC:11079"	"SLC9A6"	"MONDO:0010278"	"Christianson syndrome"	"Orphanet:85278"	"Orphanet:85278"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11079"	"SLC9A6"	"Orphanet:85278"	"Christianson syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18342287[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17207"	"2021-09-14"
"GENCC_000110-HGNC_11449-Orphanet_17-HP_0000007-GENCC_100009"	"HGNC:11449"	"SUCLG1"	"MONDO:0009504"	"mitochondrial DNA depletion syndrome 9"	"Orphanet:17"	"Orphanet:17"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11449"	"SUCLG1"	"Orphanet:17"	"Fatal infantile lactic acidosis with methylmalonic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19526370[PMID]_21639866[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17223"	"2021-09-14"
"GENCC_000110-HGNC_11571-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:11571"	"TARDBP"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11571"	"TARDBP"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17226"	"2021-09-14"
"GENCC_000110-HGNC_11571-Orphanet_275872-HP_0000006-GENCC_100009"	"HGNC:11571"	"TARDBP"	"MONDO:0017161"	"frontotemporal dementia with motor neuron disease"	"Orphanet:275872"	"Orphanet:275872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11571"	"TARDBP"	"Orphanet:275872"	"Frontotemporal dementia with motor neuron disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17226"	"2021-09-14"
"GENCC_000110-HGNC_11621-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:11621"	"HNF1A"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11621"	"HNF1A"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17227"	"2021-09-14"
"GENCC_000110-HGNC_11621-Orphanet_324575-HP_0000006-GENCC_100009"	"HGNC:11621"	"HNF1A"	"MONDO:0017935"	"hyperinsulinism due to HNF1A deficiency"	"Orphanet:324575"	"Orphanet:324575"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11621"	"HNF1A"	"Orphanet:324575"	"Hyperinsulinism due to HNF1A deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22802087[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17227"	"2021-09-14"
"GENCC_000110-HGNC_11630-Orphanet_1309-HP_0000006-GENCC_100009"	"HGNC:11630"	"HNF1B"	"MONDO:0015268"	"medullary sponge kidney"	"Orphanet:1309"	"Orphanet:1309"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11630"	"HNF1B"	"Orphanet:1309"	"Medullary sponge kidney"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33305128[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17228"	"2021-09-14"
"GENCC_000110-HGNC_11630-Orphanet_34528-HP_0000006-GENCC_100009"	"HGNC:11630"	"HNF1B"	"MONDO:0007937"	"renal hypomagnesemia 2"	"Orphanet:34528"	"Orphanet:34528"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11630"	"HNF1B"	"Orphanet:34528"	"Autosomal dominant primary hypomagnesemia with hypocalciuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19389850[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17228"	"2021-09-14"
"GENCC_000110-HGNC_11630-Orphanet_93111-HP_0000006-GENCC_100009"	"HGNC:11630"	"HNF1B"	"MONDO:0007669"	"renal cysts and diabetes syndrome"	"Orphanet:93111"	"Orphanet:93111"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11630"	"HNF1B"	"Orphanet:93111"	"HNF1B-related autosomal dominant tubulointerstitial kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17228"	"2021-09-14"
"GENCC_000110-HGNC_11630-Orphanet_93172-HP_0000006-GENCC_100009"	"HGNC:11630"	"HNF1B"	"MONDO:0019644"	"renal dysplasia, unilateral"	"Orphanet:93172"	"Orphanet:93172"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11630"	"HNF1B"	"Orphanet:93172"	"Renal dysplasia, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28566479[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17228"	"2021-09-14"
"GENCC_000110-HGNC_11630-Orphanet_93173-HP_0000006-GENCC_100009"	"HGNC:11630"	"HNF1B"	"MONDO:0019645"	"renal dysplasia, bilateral"	"Orphanet:93173"	"Orphanet:93173"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11630"	"HNF1B"	"Orphanet:93173"	"Renal dysplasia, bilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28566479[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17228"	"2021-09-14"
"GENCC_000110-HGNC_11630-Orphanet_97363-HP_0000006-GENCC_100009"	"HGNC:11630"	"HNF1B"	"MONDO:0019981"	"unilateral multicystic dysplastic kidney"	"Orphanet:97363"	"Orphanet:97363"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11630"	"HNF1B"	"Orphanet:97363"	"Unilateral multicystic dysplastic kidney"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20155289[PMID]_23725647[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17228"	"2021-09-14"
"GENCC_000110-HGNC_11634-Orphanet_2896-HP_0000006-GENCC_100009"	"HGNC:11634"	"TCF4"	"MONDO:0012589"	"Pitt-Hopkins syndrome"	"Orphanet:2896"	"Orphanet:2896"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11634"	"TCF4"	"Orphanet:2896"	"Pitt-Hopkins syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22934316[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17229"	"2021-09-14"
"GENCC_000110-HGNC_11634-Orphanet_98974-HP_0000006-GENCC_100009"	"HGNC:11634"	"TCF4"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"Orphanet:98974"	"Orphanet:98974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11634"	"TCF4"	"Orphanet:98974"	"Fuchs endothelial corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23185296[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17229"	"2021-09-14"
"GENCC_000110-HGNC_11634-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:11634"	"TCF4"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11634"	"TCF4"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22670824[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17229"	"2021-09-14"
"GENCC_000110-HGNC_11765-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:11765"	"TGFA"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11765"	"TGFA"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17254"	"2021-09-14"
"GENCC_000110-HGNC_11875-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:11875"	"TMPO"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11875"	"TMPO"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16247757[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17255"	"2021-09-14"
"GENCC_000110-HGNC_11926-Orphanet_667-HP_0000007-GENCC_100009"	"HGNC:11926"	"TNFSF11"	"MONDO:0019026"	"autosomal recessive osteopetrosis"	"Orphanet:667"	"Orphanet:667"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11926"	"TNFSF11"	"Orphanet:667"	"Autosomal recessive malignant osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17632511[PMID]_23877423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17256"	"2021-09-14"
"GENCC_000110-HGNC_11943-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:11943"	"TNNC1"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11943"	"TNNC1"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15542288[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17257"	"2021-09-14"
"GENCC_000110-HGNC_12440-Orphanet_331226-HP_0000007-GENCC_100009"	"HGNC:12440"	"TYK2"	"MONDO:0012682"	"immunodeficiency 35"	"Orphanet:331226"	"Orphanet:331226"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12440"	"TYK2"	"Orphanet:331226"	"Susceptibility to infection due to TYK2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17088085[PMID]_17521577[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17260"	"2021-09-14"
"GENCC_000110-HGNC_12472-Orphanet_163956-HP_0001417-GENCC_100009"	"HGNC:12472"	"UBE2A"	"MONDO:0010461"	"syndromic X-linked intellectual disability Nascimento type"	"Orphanet:163956"	"Orphanet:163956"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:12472"	"UBE2A"	"Orphanet:163956"	"X-linked intellectual disability, Nascimento type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16909393[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17261"	"2021-09-14"
"GENCC_000110-HGNC_12665-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:12665"	"VCL"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12665"	"VCL"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11815424[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17263"	"2021-09-14"
"GENCC_000110-HGNC_14262-Orphanet_352490-HP_0000006-GENCC_100009"	"HGNC:14262"	"AUTS2"	"MONDO:0014361"	"autism spectrum disorder due to AUTS2 deficiency"	"Orphanet:352490"	"Orphanet:352490"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14262"	"AUTS2"	"Orphanet:352490"	"Autism spectrum disorder due to AUTS2 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23332918[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17272"	"2021-09-14"
"GENCC_000110-HGNC_14378-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:14378"	"NOP10"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14378"	"NOP10"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17273"	"2021-09-14"
"GENCC_000110-HGNC_15520-Orphanet_170-HP_0000006-GENCC_100009"	"HGNC:15520"	"LPAR6"	"MONDO:0008686"	"isolated familial wooly hair disorder"	"Orphanet:170"	"Orphanet:170"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15520"	"LPAR6"	"Orphanet:170"	"Woolly hair"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21426374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17277"	"2021-09-14"
"GENCC_000110-HGNC_15520-Orphanet_55654-HP_0000006-GENCC_100009"	"HGNC:15520"	"LPAR6"	"MONDO:0018914"	"hypotrichosis simplex"	"Orphanet:55654"	"Orphanet:55654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15520"	"LPAR6"	"Orphanet:55654"	"Hypotrichosis simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18461368[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17277"	"2021-09-14"
"GENCC_000110-HGNC_15889-Orphanet_2908-HP_0000007-GENCC_100009"	"HGNC:15889"	"FERMT1"	"MONDO:0008260"	"Kindler syndrome"	"Orphanet:2908"	"Orphanet:2908"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15889"	"FERMT1"	"Orphanet:2908"	"Kindler epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22466645[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17279"	"2021-09-14"
"GENCC_000110-HGNC_16035-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:16035"	"STRC"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16035"	"STRC"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17280"	"2021-09-14"
"GENCC_000110-HGNC_16068-Orphanet_2637-HP_0000007-GENCC_100009"	"HGNC:16068"	"PCNT"	"MONDO:0008872"	"microcephalic osteodysplastic primordial dwarfism type II"	"Orphanet:2637"	"Orphanet:2637"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16068"	"PCNT"	"Orphanet:2637"	"Microcephalic osteodysplastic primordial dwarfism type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18174396[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17281"	"2021-09-14"
"GENCC_000110-HGNC_164-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:164"	"ACTN2"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:164"	"ACTN2"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14567970[PMID]_25224718[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17283"	"2021-09-14"
"GENCC_000110-HGNC_1673-Orphanet_169160-HP_0000007-GENCC_100009"	"HGNC:1673"	"CD3D"	"MONDO:0015703"	"T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"	"Orphanet:169160"	"Orphanet:169160"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1673"	"CD3D"	"Orphanet:169160"	"T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17285"	"2021-09-14"
"GENCC_000110-HGNC_1674-Orphanet_169160-HP_0000007-GENCC_100009"	"HGNC:1674"	"CD3E"	"MONDO:0015703"	"T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"	"Orphanet:169160"	"Orphanet:169160"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1674"	"CD3E"	"Orphanet:169160"	"T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17286"	"2021-09-14"
"GENCC_000110-HGNC_16873-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:16873"	"FIG4"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16873"	"FIG4"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17288"	"2021-09-14"
"GENCC_000110-HGNC_16873-Orphanet_3472-HP_0000007-GENCC_100009"	"HGNC:16873"	"FIG4"	"MONDO:0008995"	"Yunis-Varon syndrome"	"Orphanet:3472"	"Orphanet:3472"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16873"	"FIG4"	"Orphanet:3472"	"Yunis-Varon syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23623387[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17288"	"2021-09-14"
"GENCC_000110-HGNC_16873-Orphanet_139515-HP_0000007-GENCC_100009"	"HGNC:16873"	"FIG4"	"MONDO:0012640"	"Charcot-Marie-Tooth disease type 4J"	"Orphanet:139515"	"Orphanet:139515"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16873"	"FIG4"	"Orphanet:139515"	"Charcot-Marie-Tooth disease type 4J"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24228289[PMID]_20301641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17288"	"2021-09-14"
"GENCC_000110-HGNC_16873-Orphanet_208441-HP_0000007-GENCC_100009"	"HGNC:16873"	"FIG4"	"MONDO:0012986"	"bilateral parasagittal parieto-occipital polymicrogyria"	"Orphanet:208441"	"Orphanet:208441"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16873"	"FIG4"	"Orphanet:208441"	"Bilateral parasagittal parieto-occipital polymicrogyria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24598713[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17288"	"2021-09-14"
"GENCC_000110-HGNC_17009-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:17009"	"TRIOBP"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17009"	"TRIOBP"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17289"	"2021-09-14"
"GENCC_000110-HGNC_17089-Orphanet_88644-HP_0000007-GENCC_100009"	"HGNC:17089"	"SYNE1"	"MONDO:0012549"	"autosomal recessive ataxia, Beauce type"	"Orphanet:88644"	"Orphanet:88644"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17089"	"SYNE1"	"Orphanet:88644"	"Autosomal recessive ataxia, Beauce type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17159980[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17290"	"2021-09-14"
"GENCC_000110-HGNC_17089-Orphanet_98853-HP_0000006-GENCC_100009"	"HGNC:17089"	"SYNE1"	"MONDO:0020336"	"autosomal dominant Emery-Dreifuss muscular dystrophy"	"Orphanet:98853"	"Orphanet:98853"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17089"	"SYNE1"	"Orphanet:98853"	"Autosomal dominant Emery-Dreifuss muscular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17290"	"2021-09-14"
"GENCC_000110-HGNC_17089-Orphanet_319332-HP_0000007-GENCC_100009"	"HGNC:17089"	"SYNE1"	"MONDO:0017892"	"autosomal recessive myogenic arthrogryposis multiplex congenita"	"Orphanet:319332"	"Orphanet:319332"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17089"	"SYNE1"	"Orphanet:319332"	"Autosomal recessive myogenic arthrogryposis multiplex congenita"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19542096[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17290"	"2021-09-14"
"GENCC_000110-HGNC_17175-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:17175"	"PLCE1"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17175"	"PLCE1"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20591883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17292"	"2021-09-14"
"GENCC_000110-HGNC_17412-Orphanet_1545-HP_0000007-GENCC_100009"	"HGNC:17412"	"CLCF1"	"MONDO:0010091"	"Cold-induced sweating syndrome 1"	"Orphanet:1545"	"Orphanet:1545"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17412"	"CLCF1"	"Orphanet:1545"	"Crisponi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20400119[PMID]_21370513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17294"	"2021-09-14"
"GENCC_000110-HGNC_17412-Orphanet_157820-HP_0000007-GENCC_100009"	"HGNC:17412"	"CLCF1"	"MONDO:0015526"	"cold-induced sweating syndrome"	"Orphanet:157820"	"Orphanet:157820"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17412"	"CLCF1"	"Orphanet:157820"	"Cold-induced sweating syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1678282[PMID]_21370513[PMID]_20400119[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17294"	"2021-09-14"
"GENCC_000110-HGNC_17652-Orphanet_2092-HP_0001417-GENCC_100009"	"HGNC:17652"	"PORCN"	"MONDO:0010592"	"focal dermal hypoplasia"	"Orphanet:2092"	"Orphanet:2092"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:17652"	"PORCN"	"Orphanet:2092"	"Focal dermal hypoplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19586929[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17296"	"2021-09-14"
"GENCC_000110-HGNC_17652-Orphanet_98938-HP_0000006-GENCC_100009"	"HGNC:17652"	"PORCN"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17652"	"PORCN"	"Orphanet:98938"	"Colobomatous microphthalmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33111437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17296"	"2021-09-14"
"GENCC_000110-HGNC_9944-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:9944"	"RDX"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9944"	"RDX"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17298"	"2021-09-14"
"GENCC_000110-HGNC_17994-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:17994"	"TRPM7"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17994"	"TRPM7"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27020697[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17299"	"2021-09-14"
"GENCC_000110-HGNC_18021-Orphanet_302-HP_0000007-GENCC_100009"	"HGNC:18021"	"TMC6"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"Orphanet:302"	"Orphanet:302"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18021"	"TMC6"	"Orphanet:302"	"Epidermodysplasia verruciformis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12426567[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17300"	"2021-09-14"
"GENCC_000110-HGNC_18111-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:18111"	"CCDC50"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18111"	"CCDC50"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17301"	"2021-09-14"
"GENCC_000110-HGNC_18475-Orphanet_776-HP_0001417-GENCC_100009"	"HGNC:18475"	"ZDHHC9"	"MONDO:0010655"	"X-linked intellectual disability with marfanoid habitus"	"Orphanet:776"	"Orphanet:776"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18475"	"ZDHHC9"	"Orphanet:776"	"Lujan-Fryns syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23506379[PMID]_17436253[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17302"	"2021-09-14"
"GENCC_000110-HGNC_18481-Orphanet_2834-HP_0000007-GENCC_100009"	"HGNC:18481"	"ATP6V0A2"	"MONDO:0010208"	"wrinkly skin syndrome"	"Orphanet:2834"	"Orphanet:2834"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18481"	"ATP6V0A2"	"Orphanet:2834"	"Wrinkly skin syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18157129[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17303"	"2021-09-14"
"GENCC_000110-HGNC_18481-Orphanet_357074-HP_0000007-GENCC_100009"	"HGNC:18481"	"ATP6V0A2"	"MONDO:0009054"	"autosomal recessive cutis laxa type 2, classic type"	"Orphanet:357074"	"Orphanet:357074"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18481"	"ATP6V0A2"	"Orphanet:357074"	"Autosomal recessive cutis laxa type 2, classic type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301755[PMID]_19321599[PMID]_18157129[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17303"	"2021-09-14"
"GENCC_000110-HGNC_18483-Orphanet_170-HP_0000006-GENCC_100009"	"HGNC:18483"	"LIPH"	"MONDO:0008686"	"isolated familial wooly hair disorder"	"Orphanet:170"	"Orphanet:170"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18483"	"LIPH"	"Orphanet:170"	"Woolly hair"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21426374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17304"	"2021-09-14"
"GENCC_000110-HGNC_18483-Orphanet_55654-HP_0000006-GENCC_100009"	"HGNC:18483"	"LIPH"	"MONDO:0018914"	"hypotrichosis simplex"	"Orphanet:55654"	"Orphanet:55654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18483"	"LIPH"	"Orphanet:55654"	"Hypotrichosis simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18445047[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17304"	"2021-09-14"
"GENCC_000110-HGNC_19141-Orphanet_98767-HP_0000006-GENCC_100009"	"HGNC:19141"	"TTBK2"	"MONDO:0011464"	"spinocerebellar ataxia type 11"	"Orphanet:98767"	"Orphanet:98767"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19141"	"TTBK2"	"Orphanet:98767"	"Spinocerebellar ataxia type 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17306"	"2021-09-14"
"GENCC_000110-HGNC_1956-Orphanet_98784-HP_0000006-GENCC_100009"	"HGNC:1956"	"CHRNA2"	"MONDO:0020300"	"autosomal dominant nocturnal frontal lobe epilepsy"	"Orphanet:98784"	"Orphanet:98784"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1956"	"CHRNA2"	"Orphanet:98784"	"Autosomal dominant nocturnal frontal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16826524[PMID]_20301348[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17307"	"2021-09-14"
"GENCC_000110-HGNC_19698-Orphanet_209932-HP_0000007-GENCC_100009"	"HGNC:19698"	"KCNV2"	"MONDO:0012475"	"cone dystrophy with supernormal rod response"	"Orphanet:209932"	"Orphanet:209932"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19698"	"KCNV2"	"Orphanet:209932"	"Cone dystrophy with supernormal rod response"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16909397[PMID]_18235024[PMID]_18400204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17314"	"2021-09-14"
"GENCC_000110-HGNC_1975-Orphanet_2542-HP_0000006-GENCC_100009"	"HGNC:1975"	"VSX2"	"MONDO:0016764"	"isolated anophthalmia-microphthalmia syndrome"	"Orphanet:2542"	"Orphanet:2542"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1975"	"VSX2"	"Orphanet:2542"	"Isolated microphthalmia-anophthalmia-coloboma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10932181[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17315"	"2021-09-14"
"GENCC_000110-HGNC_1975-Orphanet_98938-HP_0000006-GENCC_100009"	"HGNC:1975"	"VSX2"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1975"	"VSX2"	"Orphanet:98938"	"Colobomatous microphthalmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15257456[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17315"	"2021-09-14"
"GENCC_000110-HGNC_20249-Orphanet_137605-HP_0000006-GENCC_100009"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"Orphanet:137605"	"Orphanet:137605"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20249"	"SPRED1"	"Orphanet:137605"	"Legius syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20945555[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17316"	"2021-09-14"
"GENCC_000110-HGNC_2026-Orphanet_89938-HP_0000007-GENCC_100009"	"HGNC:2026"	"CLCNKA"	"MONDO:0019524"	"Bartter syndrome type 4"	"Orphanet:89938"	"Orphanet:89938"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2026"	"CLCNKA"	"Orphanet:89938"	"Infantile Bartter syndrome with sensorineural deafness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18310267[PMID]_18776122[PMID]_12920401[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17317"	"2021-09-14"
"GENCC_000110-HGNC_20439-Orphanet_776-HP_0001417-GENCC_100009"	"HGNC:20439"	"UPF3B"	"MONDO:0010655"	"X-linked intellectual disability with marfanoid habitus"	"Orphanet:776"	"Orphanet:776"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:20439"	"UPF3B"	"Orphanet:776"	"Lujan-Fryns syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17704778[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17318"	"2021-09-14"
"GENCC_000110-HGNC_20439-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:20439"	"UPF3B"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:20439"	"UPF3B"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17704778[PMID]_19238151[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17318"	"2021-09-14"
"GENCC_000110-HGNC_20474-Orphanet_302-HP_0000007-GENCC_100009"	"HGNC:20474"	"TMC8"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"Orphanet:302"	"Orphanet:302"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20474"	"TMC8"	"Orphanet:302"	"Epidermodysplasia verruciformis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12426567[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17322"	"2021-09-14"
"GENCC_000110-HGNC_20761-Orphanet_100996-HP_0000007-GENCC_100009"	"HGNC:20761"	"ZFYVE26"	"MONDO:0010044"	"hereditary spastic paraplegia 15"	"Orphanet:100996"	"Orphanet:100996"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20761"	"ZFYVE26"	"Orphanet:100996"	"Autosomal recessive spastic paraplegia type 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18394578[PMID]_19805727[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17323"	"2021-09-14"
"GENCC_000110-HGNC_20766-Orphanet_171680-HP_0000006-GENCC_100009"	"HGNC:20766"	"TUBA1A"	"MONDO:0012703"	"lissencephaly due to TUBA1A mutation"	"Orphanet:171680"	"Orphanet:171680"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20766"	"TUBA1A"	"Orphanet:171680"	"Lissencephaly due to TUBA1A mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18669490[PMID]_18954413[PMID]_22264709[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17324"	"2021-09-14"
"GENCC_000110-HGNC_20766-Orphanet_467166-HP_0000006-GENCC_100009"	"HGNC:20766"	"TUBA1A"	"MONDO:0018763"	"tubulinopathy-associated dysgyria"	"Orphanet:467166"	"Orphanet:467166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20766"	"TUBA1A"	"Orphanet:467166"	"Tubulinopathy-associated dysgyria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26130693[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17324"	"2021-09-14"
"GENCC_000110-HGNC_20859-Orphanet_157965-HP_0000007-GENCC_100009"	"HGNC:20859"	"SLC39A13"	"MONDO:0012873"	"Ehlers-Danlos syndrome, spondylocheirodysplastic type"	"Orphanet:157965"	"Orphanet:157965"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20859"	"SLC39A13"	"Orphanet:157965"	"SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18513683[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17326"	"2021-09-14"
"GENCC_000110-HGNC_21253-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:21253"	"LHFPL5"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21253"	"LHFPL5"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17329"	"2021-09-14"
"GENCC_000110-HGNC_21307-Orphanet_573-HP_0000006-GENCC_100009"	"HGNC:21307"	"DSG4"	"MONDO:0008009"	"monilethrix"	"Orphanet:573"	"Orphanet:573"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21307"	"DSG4"	"Orphanet:573"	"Monilethrix"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16575393[PMID]_21495994[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17330"	"2021-09-14"
"GENCC_000110-HGNC_21307-Orphanet_55654-HP_0000006-GENCC_100009"	"HGNC:21307"	"DSG4"	"MONDO:0018914"	"hypotrichosis simplex"	"Orphanet:55654"	"Orphanet:55654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21307"	"DSG4"	"Orphanet:55654"	"Hypotrichosis simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16770573[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17330"	"2021-09-14"
"GENCC_000110-HGNC_21406-Orphanet_166073-HP_0000007-GENCC_100009"	"HGNC:21406"	"RARS2"	"MONDO:0012683"	"pontocerebellar hypoplasia type 6"	"Orphanet:166073"	"Orphanet:166073"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21406"	"RARS2"	"Orphanet:166073"	"Pontocerebellar hypoplasia type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17331"	"2021-09-14"
"GENCC_000110-HGNC_2151-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:2151"	"CNGB1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2151"	"CNGB1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17332"	"2021-09-14"
"GENCC_000110-HGNC_21653-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:21653"	"TOPORS"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21653"	"TOPORS"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17333"	"2021-09-14"
"GENCC_000110-HGNC_21863-Orphanet_157954-HP_0000007-GENCC_100009"	"HGNC:21863"	"RBM28"	"MONDO:0012794"	"ANE syndrome"	"Orphanet:157954"	"Orphanet:157954"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21863"	"RBM28"	"Orphanet:157954"	"ANE syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18439547[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17334"	"2021-09-14"
"GENCC_000110-HGNC_22962-Orphanet_369891-HP_0000006-GENCC_100009"	"HGNC:22962"	"MED13L"	"MONDO:0014773"	"cardiac anomalies - developmental delay - facial dysmorphism syndrome"	"Orphanet:369891"	"Orphanet:369891"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:22962"	"MED13L"	"Orphanet:369891"	"Developmental delay-facial dysmorphism syndrome due to MED13L deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23403903[PMID]_25712080[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17336"	"2021-09-14"
"GENCC_000110-HGNC_23216-Orphanet_90354-HP_0000007-GENCC_100009"	"HGNC:23216"	"ZNF469"	"MONDO:0009242"	"brittle cornea syndrome"	"Orphanet:90354"	"Orphanet:90354"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23216"	"ZNF469"	"Orphanet:90354"	"Brittle cornea syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19661234[PMID]_20938016[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17337"	"2021-09-14"
"GENCC_000110-HGNC_23663-Orphanet_98434-HP_0000007-GENCC_100009"	"HGNC:23663"	"VKORC1"	"MONDO:0010187"	"vitamin K-dependent clotting factors, combined deficiency of, type 1"	"Orphanet:98434"	"Orphanet:98434"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23663"	"VKORC1"	"Orphanet:98434"	"Hereditary combined deficiency of vitamin K-dependent clotting factors"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14765194[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17339"	"2021-09-14"
"GENCC_000110-HGNC_2439-Orphanet_279943-HP_0000006-GENCC_100009"	"HGNC:2439"	"CSF3R"	"MONDO:0008092"	"hereditary neutrophilia"	"Orphanet:279943"	"Orphanet:279943"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2439"	"CSF3R"	"Orphanet:279943"	"Hereditary neutrophilia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19620628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17340"	"2021-09-14"
"GENCC_000110-HGNC_2439-Orphanet_420702-HP_0000007-GENCC_100009"	"HGNC:2439"	"CSF3R"	"MONDO:0014865"	"autosomal recessive severe congenital neutropenia due to CSF3R deficiency"	"Orphanet:420702"	"Orphanet:420702"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2439"	"CSF3R"	"Orphanet:420702"	"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24753537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17340"	"2021-09-14"
"GENCC_000110-HGNC_2516-Orphanet_86814-HP_0000006-GENCC_100009"	"HGNC:2516"	"CTNND2"	"MONDO:0019448"	"benign adult familial myoclonic epilepsy"	"Orphanet:86814"	"Orphanet:86814"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2516"	"CTNND2"	"Orphanet:86814"	"Benign adult familial myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29127138[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17342"	"2021-09-14"
"GENCC_000110-HGNC_2529-Orphanet_228337-HP_0000007-GENCC_100009"	"HGNC:2529"	"CTSD"	"MONDO:0012414"	"neuronal ceroid lipofuscinosis 10"	"Orphanet:228337"	"Orphanet:228337"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2529"	"CTSD"	"Orphanet:228337"	"CLN10 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17343"	"2021-09-14"
"GENCC_000110-HGNC_25737-Orphanet_169079-HP_0000007-GENCC_100009"	"HGNC:25737"	"NHEJ1"	"MONDO:0012650"	"Cernunnos-XLF deficiency"	"Orphanet:169079"	"Orphanet:169079"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25737"	"NHEJ1"	"Orphanet:169079"	"Cernunnos-XLF deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17345"	"2021-09-14"
"GENCC_000110-HGNC_2799-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:2799"	"GRHL2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2799"	"GRHL2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17346"	"2021-09-14"
"GENCC_000110-HGNC_2799-Orphanet_98973-HP_0000006-GENCC_100009"	"HGNC:2799"	"GRHL2"	"MONDO:0020364"	"posterior polymorphous corneal dystrophy"	"Orphanet:98973"	"Orphanet:98973"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2799"	"GRHL2"	"Orphanet:98973"	"Posterior polymorphous corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29499165[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17346"	"2021-09-14"
"GENCC_000110-HGNC_2799-Orphanet_423454-HP_0000007-GENCC_100009"	"HGNC:2799"	"GRHL2"	"MONDO:0014460"	"nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"	"Orphanet:423454"	"Orphanet:423454"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2799"	"GRHL2"	"Orphanet:423454"	"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25152456[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17346"	"2021-09-14"
"GENCC_000110-HGNC_28434-Orphanet_140952-HP_0001417-GENCC_100009"	"HGNC:28434"	"CCNQ"	"MONDO:0010408"	"syndactyly-telecanthus-anogenital and renal malformations syndrome"	"Orphanet:140952"	"Orphanet:140952"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:28434"	"CCNQ"	"Orphanet:140952"	"Syndactyly-telecanthus-anogenital and renal malformations syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18297069[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17347"	"2021-09-14"
"GENCC_000110-HGNC_28472-Orphanet_98853-HP_0000006-GENCC_100009"	"HGNC:28472"	"TMEM43"	"MONDO:0020336"	"autosomal dominant Emery-Dreifuss muscular dystrophy"	"Orphanet:98853"	"Orphanet:98853"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28472"	"TMEM43"	"Orphanet:98853"	"Autosomal dominant Emery-Dreifuss muscular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21391237[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17348"	"2021-09-14"
"GENCC_000110-HGNC_28486-Orphanet_228366-HP_0000007-GENCC_100009"	"HGNC:28486"	"MFSD8"	"MONDO:0012588"	"neuronal ceroid lipofuscinosis 7"	"Orphanet:228366"	"Orphanet:228366"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28486"	"MFSD8"	"Orphanet:228366"	"CLN7 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21990111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17349"	"2021-09-14"
"GENCC_000110-HGNC_29-Orphanet_425-HP_0000006-GENCC_100009"	"HGNC:29"	"ABCA1"	"MONDO:0100189"	"apolipoprotein A-I deficiency"	"Orphanet:425"	"Orphanet:425"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29"	"ABCA1"	"Orphanet:425"	"Apolipoprotein A-I deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15158913[PMID]_22959828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17351"	"2021-09-14"
"GENCC_000110-HGNC_29-Orphanet_31150-HP_0000007-GENCC_100009"	"HGNC:29"	"ABCA1"	"MONDO:0008783"	"Tangier disease"	"Orphanet:31150"	"Orphanet:31150"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29"	"ABCA1"	"Orphanet:31150"	"Tangier disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10535983[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17351"	"2021-09-14"
"GENCC_000110-HGNC_29253-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:29253"	"CC2D2A"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29253"	"CC2D2A"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21110233[PMID]_19466712[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17353"	"2021-09-14"
"GENCC_000110-HGNC_29253-Orphanet_2318-HP_0000007-GENCC_100009"	"HGNC:29253"	"CC2D2A"	"MONDO:0009480"	"Joubert syndrome with oculorenal defect"	"Orphanet:2318"	"Orphanet:2318"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29253"	"CC2D2A"	"Orphanet:2318"	"Joubert syndrome with oculorenal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17353"	"2021-09-14"
"GENCC_000110-HGNC_29253-Orphanet_1454-HP_0000007-GENCC_100009"	"HGNC:29253"	"CC2D2A"	"MONDO:0008996"	"COACH syndrome 1"	"Orphanet:1454"	"Orphanet:1454"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29253"	"CC2D2A"	"Orphanet:1454"	"Joubert syndrome with hepatic defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19574260[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17353"	"2021-09-14"
"GENCC_000110-HGNC_30791-Orphanet_98967-HP_0000006-GENCC_100009"	"HGNC:30791"	"UBIAD1"	"MONDO:0007374"	"Schnyder corneal dystrophy"	"Orphanet:98967"	"Orphanet:98967"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30791"	"UBIAD1"	"Orphanet:98967"	"Schnyder corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23169578[PMID]_22065921[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17355"	"2021-09-14"
"GENCC_000110-HGNC_3148-Orphanet_298-HP_0000007-GENCC_100009"	"HGNC:3148"	"TYMP"	"MONDO:0017575"	"mitochondrial neurogastrointestinal encephalomyopathy"	"Orphanet:298"	"Orphanet:298"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3148"	"TYMP"	"Orphanet:298"	"Mitochondrial neurogastrointestinal encephalomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21933806[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17356"	"2021-09-14"
"GENCC_000110-HGNC_3247-Orphanet_3337-HP_0000006-GENCC_100009"	"HGNC:3247"	"EHHADH"	"MONDO:0007600"	"primary Fanconi syndrome"	"Orphanet:3337"	"Orphanet:3337"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3247"	"EHHADH"	"Orphanet:3337"	"Primary Fanconi renotubular syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24401050[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17357"	"2021-09-14"
"GENCC_000110-HGNC_3381-Orphanet_822-HP_0000006-GENCC_100009"	"HGNC:3381"	"EPB42"	"MONDO:0019350"	"hereditary spherocytosis"	"Orphanet:822"	"Orphanet:822"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3381"	"EPB42"	"Orphanet:822"	"Hereditary spherocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17360"	"2021-09-14"
"GENCC_000110-HGNC_3681-Orphanet_90024-HP_0000007-GENCC_100009"	"HGNC:3681"	"FGF3"	"MONDO:0012541"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"Orphanet:90024"	"Orphanet:90024"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3681"	"FGF3"	"Orphanet:90024"	"Deafness with labyrinthine aplasia, microtia, and microdontia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22993869[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17362"	"2021-09-14"
"GENCC_000110-HGNC_3703-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:3703"	"FHL2"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3703"	"FHL2"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17416352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17363"	"2021-09-14"
"GENCC_000110-HGNC_3778-Orphanet_84090-HP_0000006-GENCC_100009"	"HGNC:3778"	"FN1"	"MONDO:0007671"	"fibronectin glomerulopathy"	"Orphanet:84090"	"Orphanet:84090"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3778"	"FN1"	"Orphanet:84090"	"Fibronectin glomerulopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18268355[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17365"	"2021-09-14"
"GENCC_000110-HGNC_3778-Orphanet_93315-HP_0000006-GENCC_100009"	"HGNC:3778"	"FN1"	"MONDO:0008479"	"spondylometaphyseal dysplasia, 'corner fracture' type"	"Orphanet:93315"	"Orphanet:93315"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3778"	"FN1"	"Orphanet:93315"	"Spondylometaphyseal dysplasia, 'corner fracture' type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100092[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17365"	"2021-09-14"
"GENCC_000110-HGNC_3976-Orphanet_247790-HP_0000006-GENCC_100009"	"HGNC:3976"	"FTH1"	"MONDO:0014225"	"hemochromatosis type 5"	"Orphanet:247790"	"Orphanet:247790"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3976"	"FTH1"	"Orphanet:247790"	"FTH1-related iron overload"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11389486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17368"	"2021-09-14"
"GENCC_000110-HGNC_4010-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:4010"	"FUS"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4010"	"FUS"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17369"	"2021-09-14"
"GENCC_000110-HGNC_4010-Orphanet_300605-HP_0000007-GENCC_100009"	"HGNC:4010"	"FUS"	"MONDO:0017593"	"juvenile amyotrophic lateral sclerosis"	"Orphanet:300605"	"Orphanet:300605"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4010"	"FUS"	"Orphanet:300605"	"Juvenile amyotrophic lateral sclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21907581[PMID]_20668261[PMID]_20579074[PMID]_23046859[PMID]_22248478[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17369"	"2021-09-14"
"GENCC_000110-HGNC_4083-Orphanet_2382-HP_0000006-GENCC_100009"	"HGNC:4083"	"GABRB3"	"MONDO:0016532"	"Lennox-Gastaut syndrome"	"Orphanet:2382"	"Orphanet:2382"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4083"	"GABRB3"	"Orphanet:2382"	"Lennox-Gastaut syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23934111[PMID]_27476654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17370"	"2021-09-14"
"GENCC_000110-HGNC_4083-Orphanet_64280-HP_0000006-GENCC_100009"	"HGNC:4083"	"GABRB3"	"MONDO:0010826"	"childhood absence epilepsy"	"Orphanet:64280"	"Orphanet:64280"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4083"	"GABRB3"	"Orphanet:64280"	"Childhood absence epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18514161[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17370"	"2021-09-14"
"GENCC_000110-HGNC_4198-Orphanet_2239-HP_0000007-GENCC_100009"	"HGNC:4198"	"GCM2"	"MONDO:0010618"	"familial isolated hypoparathyroidism due to agenesis of parathyroid gland"	"Orphanet:2239"	"Orphanet:2239"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4198"	"GCM2"	"Orphanet:2239"	"Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11602629[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17371"	"2021-09-14"
"GENCC_000110-HGNC_4198-Orphanet_99879-HP_0000006-GENCC_100009"	"HGNC:4198"	"GCM2"	"MONDO:0015027"	"familial isolated hyperparathyroidism"	"Orphanet:99879"	"Orphanet:99879"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4198"	"GCM2"	"Orphanet:99879"	"Familial isolated hyperparathyroidism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27745835[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17371"	"2021-09-14"
"GENCC_000110-HGNC_4419-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:4419"	"GNRH1"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4419"	"GNRH1"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20887715[PMID]_20389089[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17372"	"2021-09-14"
"GENCC_000110-HGNC_451-Orphanet_79095-HP_0000007-GENCC_100009"	"HGNC:451"	"AMACR"	"MONDO:0008967"	"congenital bile acid synthesis defect 4"	"Orphanet:79095"	"Orphanet:79095"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:451"	"AMACR"	"Orphanet:79095"	"Congenital bile acid synthesis defect type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18577977[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17373"	"2021-09-14"
"GENCC_000110-HGNC_483-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:483"	"ANG"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:483"	"ANG"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23941283[PMID]_20301623[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17376"	"2021-09-14"
"GENCC_000110-HGNC_4908-Orphanet_88639-HP_0000007-GENCC_100009"	"HGNC:4908"	"HIBCH"	"MONDO:0009603"	"3-hydroxyisobutyryl-CoA hydrolase deficiency"	"Orphanet:88639"	"Orphanet:88639"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4908"	"HIBCH"	"Orphanet:88639"	"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17160907[PMID]_24299452[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17377"	"2021-09-14"
"GENCC_000110-HGNC_5017-Orphanet_157962-HP_0000007-GENCC_100009"	"HGNC:5017"	"HMX1"	"MONDO:0012802"	"oculoauricular syndrome"	"Orphanet:157962"	"Orphanet:157962"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5017"	"HMX1"	"Orphanet:157962"	"Oculoauricular syndrome, Schorderet type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18423520[PMID]_25574057[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17379"	"2021-09-14"
"GENCC_000110-HGNC_5103-Orphanet_83463-HP_0000006-GENCC_100009"	"HGNC:5103"	"HOXA2"	"MONDO:0010920"	"microtia"	"Orphanet:83463"	"Orphanet:83463"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5103"	"HOXA2"	"Orphanet:83463"	"Microtia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23775976[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17381"	"2021-09-14"
"GENCC_000110-HGNC_5103-Orphanet_140963-HP_0000006-GENCC_100009"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"Orphanet:140963"	"Orphanet:140963"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5103"	"HOXA2"	"Orphanet:140963"	"Bilateral microtia-deafness-cleft palate syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18394579[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17381"	"2021-09-14"
"GENCC_000110-HGNC_6024-Orphanet_39041-HP_0000007-GENCC_100009"	"HGNC:6024"	"IL7R"	"MONDO:0011338"	"Omenn syndrome"	"Orphanet:39041"	"Orphanet:39041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6024"	"IL7R"	"Orphanet:39041"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17386"	"2021-09-14"
"GENCC_000110-HGNC_6024-Orphanet_169154-HP_0000007-GENCC_100009"	"HGNC:6024"	"IL7R"	"MONDO:0015701"	"T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"	"Orphanet:169154"	"Orphanet:169154"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6024"	"IL7R"	"Orphanet:169154"	"T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17386"	"2021-09-14"
"GENCC_000110-HGNC_6235-Orphanet_98768-HP_0000006-GENCC_100009"	"HGNC:6235"	"KCNC3"	"MONDO:0011529"	"spinocerebellar ataxia type 13"	"Orphanet:98768"	"Orphanet:98768"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6235"	"KCNC3"	"Orphanet:98768"	"Spinocerebellar ataxia type 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17387"	"2021-09-14"
"GENCC_000110-HGNC_6259-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:6259"	"KCNJ13"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6259"	"KCNJ13"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21763485[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17388"	"2021-09-14"
"GENCC_000110-HGNC_6259-Orphanet_91496-HP_0000006-GENCC_100009"	"HGNC:6259"	"KCNJ13"	"MONDO:0008663"	"snowflake vitreoretinal degeneration"	"Orphanet:91496"	"Orphanet:91496"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6259"	"KCNJ13"	"Orphanet:91496"	"Snowflake vitreoretinal degeneration"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18179896[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17388"	"2021-09-14"
"GENCC_000110-HGNC_6560-Orphanet_2311-HP_0000007-GENCC_100009"	"HGNC:6560"	"LFNG"	"MONDO:0010180"	"autosomal recessive spondylocostal dysostosis"	"Orphanet:2311"	"Orphanet:2311"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6560"	"LFNG"	"Orphanet:2311"	"Autosomal recessive spondylocostal dysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17389"	"2021-09-14"
"GENCC_000110-HGNC_6694-Orphanet_2143-HP_0000007-GENCC_100009"	"HGNC:6694"	"LRP2"	"MONDO:0009104"	"Donnai-Barrow syndrome"	"Orphanet:2143"	"Orphanet:2143"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6694"	"LRP2"	"Orphanet:2143"	"Donnai-Barrow syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301732[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17390"	"2021-09-14"
"GENCC_000110-HGNC_6698-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:6698"	"LRP6"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6698"	"LRP6"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26387593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17391"	"2021-09-14"
"GENCC_000110-HGNC_6819-Orphanet_397964-HP_0000007-GENCC_100009"	"HGNC:6819"	"MALT1"	"MONDO:0014197"	"combined immunodeficiency due to MALT1 deficiency"	"Orphanet:397964"	"Orphanet:397964"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6819"	"MALT1"	"Orphanet:397964"	"Combined immunodeficiency due to MALT1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23727036[PMID]_24332264[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17392"	"2021-09-14"
"GENCC_000110-HGNC_738-Orphanet_99803-HP_0000006-GENCC_100009"	"HGNC:738"	"ASCL1"	"MONDO:0020493"	"Haddad syndrome"	"Orphanet:99803"	"Orphanet:99803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:738"	"ASCL1"	"Orphanet:99803"	"Haddad syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17395"	"2021-09-14"
"GENCC_000110-HGNC_7415-Orphanet_254913-HP_0000007-GENCC_100009"	"HGNC:7415"	"MT-ATP8"	"MONDO:0014471"	"mitochondrial proton-transporting ATP synthase complex deficiency"	"Orphanet:254913"	"Orphanet:254913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7415"	"MT-ATP8"	"Orphanet:254913"	"Isolated ATP synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21686774[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17396"	"2021-09-14"
"GENCC_000110-HGNC_7415-Orphanet_397750-HP_0001427-GENCC_100009"	"HGNC:7415"	"MT-ATP8"	"MONDO:0018343"	"periodic paralysis with later-onset distal motor neuropathy"	"Orphanet:397750"	"Orphanet:397750"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7415"	"MT-ATP8"	"Orphanet:397750"	"Periodic paralysis with later-onset distal motor neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24153443[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17396"	"2021-09-14"
"GENCC_000110-HGNC_7797-Orphanet_98813-HP_0000006-GENCC_100009"	"HGNC:7797"	"NFKBIA"	"MONDO:0010293"	"ectodermal dysplasia and immune deficiency"	"Orphanet:98813"	"Orphanet:98813"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7797"	"NFKBIA"	"Orphanet:98813"	"Hypohidrotic ectodermal dysplasia with immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18412279[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17400"	"2021-09-14"
"GENCC_000110-HGNC_7910-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:7910"	"NPM1"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7910"	"NPM1"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31570891[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17401"	"2021-09-14"
"GENCC_000110-HGNC_8931-Orphanet_264580-HP_0000007-GENCC_100009"	"HGNC:8931"	"PHKG2"	"MONDO:0020693"	"glycogen storage disease due to liver phosphorylase kinase deficiency"	"Orphanet:264580"	"Orphanet:264580"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8931"	"PHKG2"	"Orphanet:264580"	"Glycogen storage disease due to liver phosphorylase kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17404"	"2021-09-14"
"GENCC_000110-HGNC_9046-Orphanet_99886-HP_0000006-GENCC_100009"	"HGNC:9046"	"PLAGL1"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"Orphanet:99886"	"Orphanet:99886"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9046"	"PLAGL1"	"Orphanet:99886"	"Transient neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301706[PMID]_21844708[PMID]_20803656[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17405"	"2021-09-14"
"GENCC_000110-HGNC_9454-Orphanet_827-HP_0000006-GENCC_100009"	"HGNC:9454"	"PROM1"	"MONDO:0019353"	"Stargardt disease"	"Orphanet:827"	"Orphanet:827"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9454"	"PROM1"	"Orphanet:827"	"Stargardt disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18654668[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17406"	"2021-09-14"
"GENCC_000110-HGNC_9454-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:9454"	"PROM1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9454"	"PROM1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17406"	"2021-09-14"
"GENCC_000110-HGNC_9454-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:9454"	"PROM1"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9454"	"PROM1"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19718270[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17406"	"2021-09-14"
"GENCC_000110-HGNC_132-Orphanet_2995-HP_0000006-GENCC_100009"	"HGNC:132"	"ACTB"	"MONDO:0017579"	"Baraitser-Winter cerebrofrontofacial syndrome"	"Orphanet:2995"	"Orphanet:2995"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:132"	"ACTB"	"Orphanet:2995"	"Baraitser-Winter cerebrofrontofacial syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22366783[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17409"	"2021-09-14"
"GENCC_000110-HGNC_132-Orphanet_79107-HP_0000006-GENCC_100009"	"HGNC:132"	"ACTB"	"MONDO:0011823"	"developmental malformations-deafness-dystonia syndrome"	"Orphanet:79107"	"Orphanet:79107"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:132"	"ACTB"	"Orphanet:79107"	"Developmental malformations-deafness-dystonia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16685646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17409"	"2021-09-14"
"GENCC_000110-HGNC_177-Orphanet_137754-HP_0000007-GENCC_100009"	"HGNC:177"	"ACY1"	"MONDO:0012368"	"aminoacylase 1 deficiency"	"Orphanet:137754"	"Orphanet:137754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:177"	"ACY1"	"Orphanet:137754"	"Neurological conditions associated with aminoacylase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16465618[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17410"	"2021-09-14"
"GENCC_000110-HGNC_1160-Orphanet_1186-HP_0000007-GENCC_100009"	"HGNC:1160"	"TWNK"	"MONDO:0010060"	"mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"	"Orphanet:1186"	"Orphanet:1186"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1160"	"TWNK"	"Orphanet:1186"	"Infantile-onset spinocerebellar ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301746[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17411"	"2021-09-14"
"GENCC_000110-HGNC_1160-Orphanet_2855-HP_0000007-GENCC_100009"	"HGNC:1160"	"TWNK"	"MONDO:0017312"	"Perrault syndrome"	"Orphanet:2855"	"Orphanet:2855"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1160"	"TWNK"	"Orphanet:2855"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25355836[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17411"	"2021-09-14"
"GENCC_000110-HGNC_1160-Orphanet_254892-HP_0000006-GENCC_100009"	"HGNC:1160"	"TWNK"	"MONDO:0008003"	"autosomal dominant progressive external ophthalmoplegia"	"Orphanet:254892"	"Orphanet:254892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1160"	"TWNK"	"Orphanet:254892"	"Autosomal dominant progressive external ophthalmoplegia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21519523[PMID]_11431692[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17411"	"2021-09-14"
"GENCC_000110-HGNC_1160-Orphanet_363534-HP_0000007-GENCC_100009"	"HGNC:1160"	"TWNK"	"MONDO:0018197"	"mitochondrial DNA depletion syndrome, hepatocerebrorenal form"	"Orphanet:363534"	"Orphanet:363534"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1160"	"TWNK"	"Orphanet:363534"	"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23375728[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17411"	"2021-09-14"
"GENCC_000110-HGNC_6180-Orphanet_1065-HP_0000006-GENCC_100009"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"Orphanet:1065"	"Orphanet:1065"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6180"	"ITPR1"	"Orphanet:1065"	"Aniridia-cerebellar ataxia-intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27108797[PMID]_27108798[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17412"	"2021-09-14"
"GENCC_000110-HGNC_6180-Orphanet_98769-HP_0000006-GENCC_100009"	"HGNC:6180"	"ITPR1"	"MONDO:0011694"	"spinocerebellar ataxia type 15/16"	"Orphanet:98769"	"Orphanet:98769"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6180"	"ITPR1"	"Orphanet:98769"	"Spinocerebellar ataxia type 15/16"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17412"	"2021-09-14"
"GENCC_000110-HGNC_6180-Orphanet_208513-HP_0000006-GENCC_100009"	"HGNC:6180"	"ITPR1"	"MONDO:0007298"	"spinocerebellar ataxia type 29"	"Orphanet:208513"	"Orphanet:208513"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6180"	"ITPR1"	"Orphanet:208513"	"Spinocerebellar ataxia type 29"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22986007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17412"	"2021-09-14"
"GENCC_000110-HGNC_19129-Orphanet_2671-HP_0000007-GENCC_100009"	"HGNC:19129"	"PSAT1"	"MONDO:0000179"	"Neu-Laxova syndrome"	"Orphanet:2671"	"Orphanet:2671"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19129"	"PSAT1"	"Orphanet:2671"	"Neu-Laxova syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25152457[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17414"	"2021-09-14"
"GENCC_000110-HGNC_19129-Orphanet_284417-HP_0000006-GENCC_100009"	"HGNC:19129"	"PSAT1"	"MONDO:0012596"	"PSAT deficiency"	"Orphanet:284417"	"Orphanet:284417"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19129"	"PSAT1"	"Orphanet:284417"	"Phosphoserine aminotransferase deficiency, infantile/juvenile form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17436247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17414"	"2021-09-14"
"GENCC_000110-HGNC_338-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:338"	"AGTR2"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:338"	"AGTR2"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14598163[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17417"	"2021-09-14"
"GENCC_000110-HGNC_2902-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:2902"	"DLG3"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2902"	"DLG3"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15185169[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17418"	"2021-09-14"
"GENCC_000110-HGNC_5996-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:5996"	"IL1RAPL1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5996"	"IL1RAPL1"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16470793[PMID]_19012350[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17419"	"2021-09-14"
"GENCC_000110-HGNC_8148-Orphanet_137831-HP_0001417-GENCC_100009"	"HGNC:8148"	"OPHN1"	"MONDO:0010337"	"X-linked intellectual disability-cerebellar hypoplasia syndrome"	"Orphanet:137831"	"Orphanet:137831"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8148"	"OPHN1"	"Orphanet:137831"	"X-linked intellectual disability-cerebellar hypoplasia syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20528889[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17420"	"2021-09-14"
"GENCC_000110-HGNC_8592-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:8592"	"PAK3"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8592"	"PAK3"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18523455[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17421"	"2021-09-14"
"GENCC_000110-HGNC_30242-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:30242"	"TUSC3"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30242"	"TUSC3"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21739581[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17422"	"2021-09-14"
"GENCC_000110-HGNC_11742-Orphanet_1297-HP_0000006-GENCC_100009"	"HGNC:11742"	"TFAP2A"	"MONDO:0007235"	"branchiooculofacial syndrome"	"Orphanet:1297"	"Orphanet:1297"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11742"	"TFAP2A"	"Orphanet:1297"	"Branchio-oculo-facial syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21634087[PMID]_18423521[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17423"	"2021-09-14"
"GENCC_000110-HGNC_29594-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:29594"	"UQCRQ"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29594"	"UQCRQ"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18439546[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17424"	"2021-09-14"
"GENCC_000110-HGNC_6610-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:6610"	"LIM2"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6610"	"LIM2"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18596884[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17431"	"2021-09-14"
"GENCC_000110-HGNC_5468-Orphanet_140941-HP_0000007-GENCC_100009"	"HGNC:5468"	"IGFALS"	"MONDO:0014420"	"short stature due to primary acid-labile subunit deficiency"	"Orphanet:140941"	"Orphanet:140941"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5468"	"IGFALS"	"Orphanet:140941"	"Short stature due to primary acid-labile subunit deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21396577[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17433"	"2021-09-14"
"GENCC_000110-HGNC_9153-Orphanet_98810-HP_0000006-GENCC_100009"	"HGNC:9153"	"PNKD"	"MONDO:0007326"	"paroxysmal nonkinesigenic dyskinesia 1"	"Orphanet:98810"	"Orphanet:98810"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9153"	"PNKD"	"Orphanet:98810"	"Paroxysmal non-kinesigenic dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17434"	"2021-09-14"
"GENCC_000110-HGNC_26820-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:26820"	"CYP4F22"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26820"	"CYP4F22"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22739337[PMID]_20301593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17438"	"2021-09-14"
"GENCC_000110-HGNC_18662-Orphanet_2542-HP_0000006-GENCC_100009"	"HGNC:18662"	"RAX"	"MONDO:0016764"	"isolated anophthalmia-microphthalmia syndrome"	"Orphanet:2542"	"Orphanet:2542"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18662"	"RAX"	"Orphanet:2542"	"Isolated microphthalmia-anophthalmia-coloboma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24033328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17439"	"2021-09-14"
"GENCC_000110-HGNC_10592-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:10592"	"SCN4B"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10592"	"SCN4B"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23604097[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17441"	"2021-09-14"
"GENCC_000110-HGNC_11391-Orphanet_137893-HP_0000007-GENCC_100009"	"HGNC:11391"	"AURKC"	"MONDO:0009461"	"spermatogenic failure 5"	"Orphanet:137893"	"Orphanet:137893"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11391"	"AURKC"	"Orphanet:137893"	"Male infertility due to large-headed multiflagellar polyploid spermatozoa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17435757[PMID]_21733974[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17443"	"2021-09-14"
"GENCC_000110-HGNC_610-Orphanet_79506-HP_0000006-GENCC_100009"	"HGNC:610"	"APOC3"	"MONDO:0007744"	"cholesterol-ester transfer protein deficiency"	"Orphanet:79506"	"Orphanet:79506"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:610"	"APOC3"	"Orphanet:79506"	"Cholesterol-ester transfer protein deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"2022742[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17444"	"2021-09-14"
"GENCC_000110-HGNC_1040-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:1040"	"BFSP1"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1040"	"BFSP1"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24379646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17445"	"2021-09-14"
"GENCC_000110-HGNC_1318-Orphanet_280133-HP_0000007-GENCC_100009"	"HGNC:1318"	"C3"	"MONDO:0013417"	"complement component 3 deficiency"	"Orphanet:280133"	"Orphanet:280133"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1318"	"C3"	"Orphanet:280133"	"Complement component 3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15781264[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17446"	"2021-09-14"
"GENCC_000110-HGNC_20202-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:20202"	"CACNA2D4"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20202"	"CACNA2D4"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17033974[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17457"	"2021-09-14"
"GENCC_000110-HGNC_2336-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:2336"	"CR2"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2336"	"CR2"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22035880[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17458"	"2021-09-14"
"GENCC_000110-HGNC_3431-Orphanet_388-HP_0000006-GENCC_100009"	"HGNC:3431"	"ERBB3"	"MONDO:0018309"	"Hirschsprung disease"	"Orphanet:388"	"Orphanet:388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3431"	"ERBB3"	"Orphanet:388"	"Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33497358[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17461"	"2021-09-14"
"GENCC_000110-HGNC_3431-Orphanet_137776-HP_0000007-GENCC_100009"	"HGNC:3431"	"ERBB3"	"MONDO:0011868"	"lethal congenital contracture syndrome 2"	"Orphanet:137776"	"Orphanet:137776"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3431"	"ERBB3"	"Orphanet:137776"	"Lethal congenital contracture syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17701904[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17461"	"2021-09-14"
"GENCC_000110-HGNC_13281-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:13281"	"ESPN"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13281"	"ESPN"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17462"	"2021-09-14"
"GENCC_000110-HGNC_13281-Orphanet_231169-HP_0000007-GENCC_100009"	"HGNC:13281"	"ESPN"	"MONDO:0010168"	"Usher syndrome type 1"	"Orphanet:231169"	"Orphanet:231169"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13281"	"ESPN"	"Orphanet:231169"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29572253[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17462"	"2021-09-14"
"GENCC_000110-HGNC_3473-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:3473"	"ESRRB"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3473"	"ESRRB"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17463"	"2021-09-14"
"GENCC_000110-HGNC_3498-Orphanet_71289-HP_0000006-GENCC_100009"	"HGNC:3498"	"MECOM"	"MONDO:0011555"	"radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"	"Orphanet:71289"	"Orphanet:71289"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3498"	"MECOM"	"Orphanet:71289"	"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26581901[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17464"	"2021-09-14"
"GENCC_000110-HGNC_4315-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:4315"	"GLE1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4315"	"GLE1"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25343993[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17465"	"2021-09-14"
"GENCC_000110-HGNC_4315-Orphanet_1486-HP_0000007-GENCC_100009"	"HGNC:4315"	"GLE1"	"MONDO:0009670"	"lethal congenital contracture syndrome 1"	"Orphanet:1486"	"Orphanet:1486"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4315"	"GLE1"	"Orphanet:1486"	"Lethal congenital contracture syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18204449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17465"	"2021-09-14"
"GENCC_000110-HGNC_4315-Orphanet_53696-HP_0000007-GENCC_100009"	"HGNC:4315"	"GLE1"	"MONDO:0012750"	"lethal arthrogryposis-anterior horn cell disease syndrome"	"Orphanet:53696"	"Orphanet:53696"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4315"	"GLE1"	"Orphanet:53696"	"Arthrogryposis-anterior horn cell disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18204449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17465"	"2021-09-14"
"GENCC_000110-HGNC_6008-Orphanet_169100-HP_0000007-GENCC_100009"	"HGNC:6008"	"IL2RA"	"MONDO:0011664"	"immunodeficiency due to CD25 deficiency"	"Orphanet:169100"	"Orphanet:169100"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6008"	"IL2RA"	"Orphanet:169100"	"Immunodeficiency due to CD25 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9096364[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17467"	"2021-09-14"
"GENCC_000110-HGNC_29262-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:29262"	"IFT80"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29262"	"IFT80"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17468754[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17468"	"2021-09-14"
"GENCC_000110-HGNC_29262-Orphanet_93268-HP_0000007-GENCC_100009"	"HGNC:29262"	"IFT80"	"MONDO:0010024"	"Beemer-Langer syndrome"	"Orphanet:93268"	"Orphanet:93268"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29262"	"IFT80"	"Orphanet:93268"	"Short rib-polydactyly syndrome, Beemer-Langer type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30767363[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17468"	"2021-09-14"
"GENCC_000110-HGNC_29262-Orphanet_93271-HP_0000007-GENCC_100009"	"HGNC:29262"	"IFT80"	"MONDO:0019664"	"short rib-polydactyly syndrome, Verma-Naumoff type"	"Orphanet:93271"	"Orphanet:93271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29262"	"IFT80"	"Orphanet:93271"	"Short rib-polydactyly syndrome, Verma-Naumoff type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791528[PMID]_19648123[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17468"	"2021-09-14"
"GENCC_000110-HGNC_4706-Orphanet_137625-HP_0000007-GENCC_100009"	"HGNC:4706"	"GYS1"	"MONDO:0012693"	"glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"Orphanet:137625"	"Orphanet:137625"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4706"	"GYS1"	"Orphanet:137625"	"Glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17469"	"2021-09-14"
"GENCC_000110-HGNC_26401-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:26401"	"MARVELD2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26401"	"MARVELD2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17470"	"2021-09-14"
"GENCC_000110-HGNC_19309-Orphanet_210141-HP_0000007-GENCC_100009"	"HGNC:19309"	"KANK1"	"MONDO:0016215"	"spastic quadriplegic cerebral palsy"	"Orphanet:210141"	"Orphanet:210141"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19309"	"KANK1"	"Orphanet:210141"	"Inherited congenital spastic tetraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16301218[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17471"	"2021-09-14"
"GENCC_000110-HGNC_7525-Orphanet_994-HP_0000007-GENCC_100009"	"HGNC:7525"	"MUSK"	"MONDO:0100101"	"fetal akinesia deformation sequence 1"	"Orphanet:994"	"Orphanet:994"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7525"	"MUSK"	"Orphanet:994"	"Fetal akinesia deformation sequence"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25612909[PMID]_25537362[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17474"	"2021-09-14"
"GENCC_000110-HGNC_7525-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:7525"	"MUSK"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7525"	"MUSK"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17474"	"2021-09-14"
"GENCC_000110-HGNC_7601-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:7601"	"MYO3A"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7601"	"MYO3A"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17475"	"2021-09-14"
"GENCC_000110-HGNC_8790-Orphanet_49382-HP_0000007-GENCC_100009"	"HGNC:8790"	"PDE6H"	"MONDO:0018852"	"achromatopsia"	"Orphanet:49382"	"Orphanet:49382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8790"	"PDE6H"	"Orphanet:49382"	"Achromatopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17477"	"2021-09-14"
"GENCC_000110-HGNC_8996-Orphanet_137783-HP_0000007-GENCC_100009"	"HGNC:8996"	"PIP5K1C"	"MONDO:0012656"	"lethal congenital contracture syndrome 3"	"Orphanet:137783"	"Orphanet:137783"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8996"	"PIP5K1C"	"Orphanet:137783"	"Lethal congenital contracture syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17701898[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17478"	"2021-09-14"
"GENCC_000110-HGNC_21043-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:21043"	"PITPNM3"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21043"	"PITPNM3"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17377520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17479"	"2021-09-14"
"GENCC_000110-HGNC_9080-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:9080"	"PLN"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9080"	"PLN"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12610310[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17480"	"2021-09-14"
"GENCC_000110-HGNC_30260-Orphanet_79096-HP_0000007-GENCC_100009"	"HGNC:30260"	"PNPO"	"MONDO:0012407"	"pyridoxal phosphate-responsive seizures"	"Orphanet:79096"	"Orphanet:79096"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30260"	"PNPO"	"Orphanet:79096"	"Pyridoxal phosphate-responsive seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15772097[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17481"	"2021-09-14"
"GENCC_000110-HGNC_9359-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:9359"	"SLC26A5"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9359"	"SLC26A5"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17482"	"2021-09-14"
"GENCC_000110-HGNC_15977-Orphanet_2311-HP_0000007-GENCC_100009"	"HGNC:15977"	"HES7"	"MONDO:0010180"	"autosomal recessive spondylocostal dysostosis"	"Orphanet:2311"	"Orphanet:2311"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15977"	"HES7"	"Orphanet:2311"	"Autosomal recessive spondylocostal dysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17570"	"2021-09-14"
"GENCC_000110-HGNC_2452-Orphanet_164736-HP_0000006-GENCC_100009"	"HGNC:2452"	"CSNK1D"	"MONDO:0015609"	"advanced sleep phase syndrome"	"Orphanet:164736"	"Orphanet:164736"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2452"	"CSNK1D"	"Orphanet:164736"	"Familial advanced sleep-phase syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15800623[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17580"	"2021-09-14"
"GENCC_000110-HGNC_28510-Orphanet_79118-HP_0000007-GENCC_100009"	"HGNC:28510"	"GLIS3"	"MONDO:0012436"	"neonatal diabetes mellitus with congenital hypothyroidism"	"Orphanet:79118"	"Orphanet:79118"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28510"	"GLIS3"	"Orphanet:79118"	"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16715098[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17581"	"2021-09-14"
"GENCC_000110-HGNC_29796-Orphanet_90023-HP_0000007-GENCC_100009"	"HGNC:29796"	"LAMTOR2"	"MONDO:0012559"	"primary immunodeficiency syndrome due to p14 deficiency"	"Orphanet:90023"	"Orphanet:90023"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29796"	"LAMTOR2"	"Orphanet:90023"	"Primary immunodeficiency syndrome due to LAMTOR2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17582"	"2021-09-14"
"GENCC_000110-HGNC_10606-Orphanet_163684-HP_0000007-GENCC_100009"	"HGNC:10606"	"SCP2"	"MONDO:0013391"	"sterol carrier protein 2 deficiency"	"Orphanet:163684"	"Orphanet:163684"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10606"	"SCP2"	"Orphanet:163684"	"Leukoencephalopathy-dystonia-motor neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16685654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17584"	"2021-09-14"
"GENCC_000110-HGNC_1665-Orphanet_308-HP_0000007-GENCC_100009"	"HGNC:1665"	"SCARB2"	"MONDO:0009698"	"Unverricht-Lundborg syndrome"	"Orphanet:308"	"Orphanet:308"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1665"	"SCARB2"	"Orphanet:308"	"Progressive myoclonic epilepsy type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19847901[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17585"	"2021-09-14"
"GENCC_000110-HGNC_1665-Orphanet_163696-HP_0000007-GENCC_100009"	"HGNC:1665"	"SCARB2"	"MONDO:0009699"	"action myoclonus-renal failure syndrome"	"Orphanet:163696"	"Orphanet:163696"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1665"	"SCARB2"	"Orphanet:163696"	"Action myoclonus-renal failure syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26677510[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17585"	"2021-09-14"
"GENCC_000110-HGNC_13830-Orphanet_163681-HP_0000007-GENCC_100009"	"HGNC:13830"	"CNTNAP2"	"MONDO:0012400"	"cortical dysplasia-focal epilepsy syndrome"	"Orphanet:163681"	"Orphanet:163681"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13830"	"CNTNAP2"	"Orphanet:163681"	"CNTNAP2-related developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16571880[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17587"	"2021-09-14"
"GENCC_000110-HGNC_1962-Orphanet_98784-HP_0000006-GENCC_100009"	"HGNC:1962"	"CHRNB2"	"MONDO:0020300"	"autosomal dominant nocturnal frontal lobe epilepsy"	"Orphanet:98784"	"Orphanet:98784"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1962"	"CHRNB2"	"Orphanet:98784"	"Autosomal dominant nocturnal frontal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11062464[PMID]_20301348[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17591"	"2021-09-14"
"GENCC_000110-HGNC_1497-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:1497"	"CASK"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1497"	"CASK"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24278995[PMID]_22709267[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17592"	"2021-09-14"
"GENCC_000110-HGNC_1497-Orphanet_163937-HP_0001417-GENCC_100009"	"HGNC:1497"	"CASK"	"MONDO:0010417"	"syndromic X-linked intellectual disability Najm type"	"Orphanet:163937"	"Orphanet:163937"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:1497"	"CASK"	"Orphanet:163937"	"X-linked intellectual disability, Najm type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17592"	"2021-09-14"
"GENCC_000110-HGNC_14561-Orphanet_163985-HP_0001417-GENCC_100009"	"HGNC:14561"	"ARHGEF9"	"MONDO:0010375"	"developmental and epileptic encephalopathy, 8"	"Orphanet:163985"	"Orphanet:163985"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:14561"	"ARHGEF9"	"Orphanet:163985"	"Hyperekplexia-epilepsy syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17607"	"2021-09-14"
"GENCC_000110-HGNC_11444-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:11444"	"STXBP1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11444"	"STXBP1"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18469812[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17663"	"2021-09-14"
"GENCC_000110-HGNC_11444-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:11444"	"STXBP1"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11444"	"STXBP1"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21762454[PMID]_25497044[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17663"	"2021-09-14"
"GENCC_000110-HGNC_11444-Orphanet_3095-HP_0000006-GENCC_100009"	"HGNC:11444"	"STXBP1"	"MONDO:0017746"	"atypical Rett syndrome"	"Orphanet:3095"	"Orphanet:3095"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11444"	"STXBP1"	"Orphanet:3095"	"Atypical Rett syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25714420[PMID]_25914188[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17663"	"2021-09-14"
"GENCC_000110-HGNC_11444-Orphanet_33069-HP_0000006-GENCC_100009"	"HGNC:11444"	"STXBP1"	"MONDO:0011794"	"Dravet syndrome"	"Orphanet:33069"	"Orphanet:33069"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11444"	"STXBP1"	"Orphanet:33069"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24623842[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17663"	"2021-09-14"
"GENCC_000110-HGNC_11444-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:11444"	"STXBP1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11444"	"STXBP1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26865513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17663"	"2021-09-14"
"GENCC_000110-HGNC_11444-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:11444"	"STXBP1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11444"	"STXBP1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26865513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17663"	"2021-09-14"
"GENCC_000110-HGNC_21034-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:21034"	"NDUFAF4"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21034"	"NDUFAF4"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18179882[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17664"	"2021-09-14"
"GENCC_000110-HGNC_13780-Orphanet_137681-HP_0000007-GENCC_100009"	"HGNC:13780"	"GFM1"	"MONDO:0012191"	"hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"	"Orphanet:137681"	"Orphanet:137681"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13780"	"GFM1"	"Orphanet:137681"	"Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23430926[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17666"	"2021-09-14"
"GENCC_000110-HGNC_6143-Orphanet_2020-HP_0000006-GENCC_100009"	"HGNC:6143"	"ITGA7"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"Orphanet:2020"	"Orphanet:2020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6143"	"ITGA7"	"Orphanet:2020"	"Congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23800289[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17667"	"2021-09-14"
"GENCC_000110-HGNC_6143-Orphanet_34520-HP_0000007-GENCC_100009"	"HGNC:6143"	"ITGA7"	"MONDO:0013177"	"congenital muscular dystrophy due to integrin alpha-7 deficiency"	"Orphanet:34520"	"Orphanet:34520"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6143"	"ITGA7"	"Orphanet:34520"	"Congenital muscular dystrophy with integrin alpha-7 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9590299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17667"	"2021-09-14"
"GENCC_000110-HGNC_24212-Orphanet_3463-HP_0000007-GENCC_100009"	"HGNC:24212"	"CISD2"	"MONDO:0018105"	"Wolfram syndrome"	"Orphanet:3463"	"Orphanet:3463"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24212"	"CISD2"	"Orphanet:3463"	"Wolfram syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17668"	"2021-09-14"
"GENCC_000110-HGNC_12582-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:12582"	"UQCRB"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12582"	"UQCRB"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12709789[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17669"	"2021-09-14"
"GENCC_000110-HGNC_12372-Orphanet_90674-HP_0000007-GENCC_100009"	"HGNC:12372"	"TSHB"	"MONDO:0010139"	"isolated thyroid-stimulating hormone deficiency"	"Orphanet:90674"	"Orphanet:90674"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12372"	"TSHB"	"Orphanet:90674"	"Isolated thyroid-stimulating hormone deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12930599[PMID]_20537182[PMID]_22851492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17670"	"2021-09-14"
"GENCC_000110-HGNC_17989-Orphanet_94088-HP_0000007-GENCC_100009"	"HGNC:17989"	"SLC22A12"	"MONDO:0009071"	"hereditary renal hypouricemia"	"Orphanet:94088"	"Orphanet:94088"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17989"	"SLC22A12"	"Orphanet:94088"	"Hereditary renal hypouricemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21148271[PMID]_23386035[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17674"	"2021-09-14"
"GENCC_000110-HGNC_16378-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:16378"	"OTOA"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16378"	"OTOA"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17675"	"2021-09-14"
"GENCC_000110-HGNC_29502-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:29502"	"PJVK"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29502"	"PJVK"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17677"	"2021-09-14"
"GENCC_000110-HGNC_2418-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:2418"	"CRYM"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2418"	"CRYM"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17678"	"2021-09-14"
"GENCC_000110-HGNC_2035-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:2035"	"CLDN14"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2035"	"CLDN14"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17679"	"2021-09-14"
"GENCC_000110-HGNC_144-Orphanet_2995-HP_0000006-GENCC_100009"	"HGNC:144"	"ACTG1"	"MONDO:0017579"	"Baraitser-Winter cerebrofrontofacial syndrome"	"Orphanet:2995"	"Orphanet:2995"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:144"	"ACTG1"	"Orphanet:2995"	"Baraitser-Winter cerebrofrontofacial syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22366783[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17680"	"2021-09-14"
"GENCC_000110-HGNC_144-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:144"	"ACTG1"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:144"	"ACTG1"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17680"	"2021-09-14"
"GENCC_000110-HGNC_4214-Orphanet_97548-HP_0000007-GENCC_100009"	"HGNC:4214"	"GDF1"	"MONDO:0008832"	"right atrial isomerism"	"Orphanet:97548"	"Orphanet:97548"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4214"	"GDF1"	"Orphanet:97548"	"Right sided atrial isomerism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20413652[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17681"	"2021-09-14"
"GENCC_000110-HGNC_28845-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:28845"	"MED25"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28845"	"MED25"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25527630[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17685"	"2021-09-14"
"GENCC_000110-HGNC_28845-Orphanet_101101-HP_0000007-GENCC_100009"	"HGNC:28845"	"MED25"	"MONDO:0011570"	"Charcot-Marie-Tooth disease type 2B2"	"Orphanet:101101"	"Orphanet:101101"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28845"	"MED25"	"Orphanet:101101"	"Charcot-Marie-Tooth disease type 2B2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17685"	"2021-09-14"
"GENCC_000110-HGNC_28845-Orphanet_464738-HP_0000007-GENCC_100009"	"HGNC:28845"	"MED25"	"MONDO:0014643"	"congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome"	"Orphanet:464738"	"Orphanet:464738"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28845"	"MED25"	"Orphanet:464738"	"Basel-Vanagaite-Smirin-Yosef syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25792360[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17685"	"2021-09-14"
"GENCC_000110-HGNC_8846-Orphanet_164736-HP_0000006-GENCC_100009"	"HGNC:8846"	"PER2"	"MONDO:0015609"	"advanced sleep phase syndrome"	"Orphanet:164736"	"Orphanet:164736"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8846"	"PER2"	"Orphanet:164736"	"Familial advanced sleep-phase syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11232563[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17718"	"2021-09-14"
"GENCC_000110-HGNC_29105-Orphanet_206580-HP_0000007-GENCC_100009"	"HGNC:29105"	"PLEKHG5"	"MONDO:0012608"	"neuronopathy, distal hereditary motor, autosomal recessive 4"	"Orphanet:206580"	"Orphanet:206580"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29105"	"PLEKHG5"	"Orphanet:206580"	"Autosomal recessive lower motor neuron disease with childhood onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17564964[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17719"	"2021-09-14"
"GENCC_000110-HGNC_29105-Orphanet_369867-HP_0000007-GENCC_100009"	"HGNC:29105"	"PLEKHG5"	"MONDO:0014154"	"Charcot-Marie-Tooth disease recessive intermediate C"	"Orphanet:369867"	"Orphanet:369867"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29105"	"PLEKHG5"	"Orphanet:369867"	"Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23844677[PMID]_23777631[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17719"	"2021-09-14"
"GENCC_000110-HGNC_2280-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:2280"	"COX6B1"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2280"	"COX6B1"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18499082[PMID]_24781756[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17720"	"2021-09-14"
"GENCC_000110-HGNC_11431-Orphanet_94089-HP_0000006-GENCC_100009"	"HGNC:11431"	"STX16"	"MONDO:0011301"	"pseudohypoparathyroidism type 1B"	"Orphanet:94089"	"Orphanet:94089"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11431"	"STX16"	"Orphanet:94089"	"Pseudohypoparathyroidism type 1B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17721"	"2021-09-14"
"GENCC_000110-HGNC_30528-Orphanet_66634-HP_0000007-GENCC_100009"	"HGNC:30528"	"DNAJC19"	"MONDO:0012435"	"3-methylglutaconic aciduria type 5"	"Orphanet:66634"	"Orphanet:66634"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30528"	"DNAJC19"	"Orphanet:66634"	"Dilated cardiomyopathy with ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16055927[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17725"	"2021-09-14"
"GENCC_000110-HGNC_4601-Orphanet_314629-HP_0000007-GENCC_100009"	"HGNC:4601"	"GRN"	"MONDO:0013866"	"neuronal ceroid lipofuscinosis 11"	"Orphanet:314629"	"Orphanet:314629"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4601"	"GRN"	"Orphanet:314629"	"CLN11 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22608501[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17726"	"2021-09-14"
"GENCC_000110-HGNC_5154-Orphanet_1525-HP_0000007-GENCC_100009"	"HGNC:5154"	"HPGD"	"MONDO:0015466"	"cranio-osteoarthropathy"	"Orphanet:1525"	"Orphanet:1525"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5154"	"HPGD"	"Orphanet:1525"	"Cranio-osteoarthropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18500342[PMID]_21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17727"	"2021-09-14"
"GENCC_000110-HGNC_5154-Orphanet_2796-HP_0000007-GENCC_100009"	"HGNC:5154"	"HPGD"	"MONDO:0009799"	"pachydermoperiostosis"	"Orphanet:2796"	"Orphanet:2796"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5154"	"HPGD"	"Orphanet:2796"	"Pachydermoperiostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18500342[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17727"	"2021-09-14"
"GENCC_000110-HGNC_5154-Orphanet_217059-HP_0000006-GENCC_100009"	"HGNC:5154"	"HPGD"	"MONDO:0007343"	"isolated congenital digital clubbing"	"Orphanet:217059"	"Orphanet:217059"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5154"	"HPGD"	"Orphanet:217059"	"Isolated congenital digital clubbing"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18805827[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17727"	"2021-09-14"
"GENCC_000110-HGNC_20800-Orphanet_3144-HP_0000007-GENCC_100009"	"HGNC:20800"	"SLC35D1"	"MONDO:0010013"	"schneckenbecken dysplasia"	"Orphanet:3144"	"Orphanet:3144"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20800"	"SLC35D1"	"Orphanet:3144"	"Schneckenbecken dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19508970[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17728"	"2021-09-14"
"GENCC_000110-HGNC_4341-Orphanet_71278-HP_0000007-GENCC_100009"	"HGNC:4341"	"GLUL"	"MONDO:0012393"	"congenital brain dysgenesis due to glutamine synthetase deficiency"	"Orphanet:71278"	"Orphanet:71278"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4341"	"GLUL"	"Orphanet:71278"	"Congenital brain dysgenesis due to glutamine synthetase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16267323[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17729"	"2021-09-14"
"GENCC_000110-HGNC_6224-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:6224"	"KCNA5"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6224"	"KCNA5"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19343045[PMID]_16772329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17730"	"2021-09-14"
"GENCC_000110-HGNC_6932-Orphanet_71529-HP_0000006-GENCC_100009"	"HGNC:6932"	"MC4R"	"MONDO:0019115"	"obesity due to melanocortin 4 receptor deficiency"	"Orphanet:71529"	"Orphanet:71529"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6932"	"MC4R"	"Orphanet:71529"	"Obesity due to melanocortin 4 receptor deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10903343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17731"	"2021-09-14"
"GENCC_000110-HGNC_29882-Orphanet_43115-HP_0000007-GENCC_100009"	"HGNC:29882"	"ISCU"	"MONDO:0009706"	"hereditary myopathy with lactic acidosis due to ISCU deficiency"	"Orphanet:43115"	"Orphanet:43115"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29882"	"ISCU"	"Orphanet:43115"	"Hereditary myopathy with lactic acidosis due to ISCU deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301757[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17732"	"2021-09-14"
"GENCC_000110-HGNC_6469-Orphanet_79155-HP_0000007-GENCC_100009"	"HGNC:6469"	"KYNU"	"MONDO:0009372"	"encephalopathy due to hydroxykynureninuria"	"Orphanet:79155"	"Orphanet:79155"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6469"	"KYNU"	"Orphanet:79155"	"Hydroxykynureninuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17334708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17733"	"2021-09-14"
"GENCC_000110-HGNC_6469-Orphanet_521438-HP_0000007-GENCC_100009"	"HGNC:6469"	"KYNU"	"MONDO:0020831"	"congenital vertebral-cardiac-renal anomalies syndrome"	"Orphanet:521438"	"Orphanet:521438"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6469"	"KYNU"	"Orphanet:521438"	"Congenital vertebral-cardiac-renal anomalies syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28792876[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17733"	"2021-09-14"
"GENCC_000110-HGNC_17296-Orphanet_480-HP_0000007-GENCC_100009"	"HGNC:17296"	"RRM2B"	"MONDO:0010787"	"Kearns-Sayre syndrome"	"Orphanet:480"	"Orphanet:480"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17296"	"RRM2B"	"Orphanet:480"	"Kearns-Sayre syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21378381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17734"	"2021-09-14"
"GENCC_000110-HGNC_17296-Orphanet_298-HP_0000007-GENCC_100009"	"HGNC:17296"	"RRM2B"	"MONDO:0017575"	"mitochondrial neurogastrointestinal encephalomyopathy"	"Orphanet:298"	"Orphanet:298"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17296"	"RRM2B"	"Orphanet:298"	"Mitochondrial neurogastrointestinal encephalomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19667227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17734"	"2021-09-14"
"GENCC_000110-HGNC_17296-Orphanet_254892-HP_0000006-GENCC_100009"	"HGNC:17296"	"RRM2B"	"MONDO:0008003"	"autosomal dominant progressive external ophthalmoplegia"	"Orphanet:254892"	"Orphanet:254892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17296"	"RRM2B"	"Orphanet:254892"	"Autosomal dominant progressive external ophthalmoplegia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21646632[PMID]_19664747[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17734"	"2021-09-14"
"GENCC_000110-HGNC_17296-Orphanet_255235-HP_0000007-GENCC_100009"	"HGNC:17296"	"RRM2B"	"MONDO:0012792"	"mitochondrial DNA depletion syndrome 8a"	"Orphanet:255235"	"Orphanet:255235"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17296"	"RRM2B"	"Orphanet:255235"	"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24741716[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17734"	"2021-09-14"
"GENCC_000110-HGNC_17296-Orphanet_329336-HP_0000006-GENCC_100009"	"HGNC:17296"	"RRM2B"	"MONDO:0018002"	"adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"	"Orphanet:329336"	"Orphanet:329336"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17296"	"RRM2B"	"Orphanet:329336"	"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23107649[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17734"	"2021-09-14"
"GENCC_000110-HGNC_10922-Orphanet_165991-HP_0000006-GENCC_100009"	"HGNC:10922"	"SLC16A1"	"MONDO:0012396"	"exercise-induced hyperinsulinism"	"Orphanet:165991"	"Orphanet:165991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10922"	"SLC16A1"	"Orphanet:165991"	"Exercise-induced hyperinsulinism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17701893[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17735"	"2021-09-14"
"GENCC_000110-HGNC_10922-Orphanet_438075-HP_0000006-GENCC_100009"	"HGNC:10922"	"SLC16A1"	"MONDO:0014490"	"ketoacidosis due to monocarboxylate transporter-1 deficiency"	"Orphanet:438075"	"Orphanet:438075"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10922"	"SLC16A1"	"Orphanet:438075"	"Ketoacidosis due to monocarboxylate transporter-1 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25390740[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17735"	"2021-09-14"
"GENCC_000110-HGNC_11854-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:11854"	"TSPAN7"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11854"	"TSPAN7"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10655063[PMID]_12070254[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17736"	"2021-09-14"
"GENCC_000110-HGNC_21285-Orphanet_2197-HP_0000006-GENCC_100009"	"HGNC:21285"	"ADCY10"	"MONDO:0016352"	"idiopathic inherited hypercalciuria"	"Orphanet:2197"	"Orphanet:2197"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21285"	"ADCY10"	"Orphanet:2197"	"Idiopathic hypercalciuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11932268[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17738"	"2021-09-14"
"GENCC_000110-HGNC_32698-Orphanet_95716-HP_0000007-GENCC_100009"	"HGNC:32698"	"DUOXA2"	"MONDO:0010132"	"familial thyroid dyshormonogenesis"	"Orphanet:95716"	"Orphanet:95716"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:32698"	"DUOXA2"	"Orphanet:95716"	"Familial thyroid dyshormonogenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_21543982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17739"	"2021-09-14"
"GENCC_000110-HGNC_27561-Orphanet_2524-HP_0000007-GENCC_100009"	"HGNC:27561"	"TSEN54"	"MONDO:0016759"	"pontocerebellar hypoplasia type 2"	"Orphanet:2524"	"Orphanet:2524"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27561"	"TSEN54"	"Orphanet:2524"	"Pontocerebellar hypoplasia type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301773[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17741"	"2021-09-14"
"GENCC_000110-HGNC_27561-Orphanet_166063-HP_0000007-GENCC_100009"	"HGNC:27561"	"TSEN54"	"MONDO:0009166"	"pontocerebellar hypoplasia type 4"	"Orphanet:166063"	"Orphanet:166063"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27561"	"TSEN54"	"Orphanet:166063"	"Pontocerebellar hypoplasia type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17741"	"2021-09-14"
"GENCC_000110-HGNC_29160-Orphanet_166105-HP_0000007-GENCC_100009"	"HGNC:29160"	"FASTKD2"	"MONDO:0015632"	"FASTKD2-related infantile mitochondrial encephalomyopathy"	"Orphanet:166105"	"Orphanet:166105"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29160"	"FASTKD2"	"Orphanet:166105"	"FASTKD2-related infantile mitochondrial encephalomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18771761[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17742"	"2021-09-14"
"GENCC_000110-HGNC_29450-Orphanet_93592-HP_0000007-GENCC_100009"	"HGNC:29450"	"GLIS2"	"MONDO:0009728"	"nephronophthisis 1"	"Orphanet:93592"	"Orphanet:93592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29450"	"GLIS2"	"Orphanet:93592"	"Juvenile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17618285[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17743"	"2021-09-14"
"GENCC_000110-HGNC_7983-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:7983"	"NR5A1"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7983"	"NR5A1"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17744"	"2021-09-14"
"GENCC_000110-HGNC_7983-Orphanet_242-HP_0000006-GENCC_100009"	"HGNC:7983"	"NR5A1"	"MONDO:0010765"	"46,XY complete gonadal dysgenesis"	"Orphanet:242"	"Orphanet:242"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7983"	"NR5A1"	"Orphanet:242"	"46,XY complete gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301714[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17744"	"2021-09-14"
"GENCC_000110-HGNC_7983-Orphanet_2138-HP_0000006-GENCC_100009"	"HGNC:7983"	"NR5A1"	"MONDO:0016281"	"46,XX ovotesticular disorder of sex development"	"Orphanet:2138"	"Orphanet:2138"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7983"	"NR5A1"	"Orphanet:2138"	"46,XX ovotesticular disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27490115[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17744"	"2021-09-14"
"GENCC_000110-HGNC_7983-Orphanet_393-HP_0000006-GENCC_100009"	"HGNC:7983"	"NR5A1"	"MONDO:0010766"	"46,XX sex reversal 1"	"Orphanet:393"	"Orphanet:393"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7983"	"NR5A1"	"Orphanet:393"	"46,XX testicular disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27490115[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17744"	"2021-09-14"
"GENCC_000110-HGNC_7983-Orphanet_251510-HP_0000006-GENCC_100009"	"HGNC:7983"	"NR5A1"	"MONDO:0016674"	"46,XY partial gonadal dysgenesis"	"Orphanet:251510"	"Orphanet:251510"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7983"	"NR5A1"	"Orphanet:251510"	"46,XY partial gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25580123[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17744"	"2021-09-14"
"GENCC_000110-HGNC_7983-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:7983"	"NR5A1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7983"	"NR5A1"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20887963[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17744"	"2021-09-14"
"GENCC_000110-HGNC_685-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:685"	"ARHGEF6"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:685"	"ARHGEF6"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11017088[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17746"	"2021-09-14"
"GENCC_000110-HGNC_13156-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:13156"	"ZNF81"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:13156"	"ZNF81"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15121780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17747"	"2021-09-14"
"GENCC_000110-HGNC_14270-Orphanet_33069-HP_0000006-GENCC_100009"	"HGNC:14270"	"PCDH19"	"MONDO:0011794"	"Dravet syndrome"	"Orphanet:33069"	"Orphanet:33069"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14270"	"PCDH19"	"Orphanet:33069"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19214208[PMID]_22848613[PMID]_23808377[PMID]_23093055[PMID]_21463275[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17748"	"2021-09-14"
"GENCC_000110-HGNC_14270-Orphanet_101039-HP_0000005-GENCC_100009"	"HGNC:14270"	"PCDH19"	"MONDO:0010246"	"developmental and epileptic encephalopathy, 9"	"Orphanet:101039"	"Orphanet:101039"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:14270"	"PCDH19"	"Orphanet:101039"	"Female restricted epilepsy with intellectual disability"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18469813[PMID]_19752159[PMID]_20830798[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17748"	"2021-09-14"
"GENCC_000110-HGNC_6081-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:6081"	"INS"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6081"	"INS"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22498247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17750"	"2021-09-14"
"GENCC_000110-HGNC_6081-Orphanet_99885-HP_0000006-GENCC_100009"	"HGNC:6081"	"INS"	"MONDO:0100164"	"permanent neonatal diabetes mellitus"	"Orphanet:99885"	"Orphanet:99885"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6081"	"INS"	"Orphanet:99885"	"Isolated permanent neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21844708[PMID]_22498247[PMID]_20301620[PMID]_23245869[PMID]_23107109[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17750"	"2021-09-14"
"GENCC_000110-HGNC_11764-Orphanet_95716-HP_0000007-GENCC_100009"	"HGNC:11764"	"TG"	"MONDO:0010132"	"familial thyroid dyshormonogenesis"	"Orphanet:95716"	"Orphanet:95716"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11764"	"TG"	"Orphanet:95716"	"Familial thyroid dyshormonogenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_21543982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17751"	"2021-09-14"
"GENCC_000110-HGNC_6685-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:6685"	"LRAT"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6685"	"LRAT"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18055821[PMID]_20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17754"	"2021-09-14"
"GENCC_000110-HGNC_6685-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:6685"	"LRAT"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6685"	"LRAT"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17011878[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17754"	"2021-09-14"
"GENCC_000110-HGNC_6685-Orphanet_364055-HP_0000007-GENCC_100009"	"HGNC:6685"	"LRAT"	"MONDO:0009549"	"severe early-childhood-onset retinal dystrophy"	"Orphanet:364055"	"Orphanet:364055"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6685"	"LRAT"	"Orphanet:364055"	"Severe early-childhood-onset retinal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22570351[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17754"	"2021-09-14"
"GENCC_000110-HGNC_8800-Orphanet_1980-HP_0000006-GENCC_100009"	"HGNC:8800"	"PDGFB"	"MONDO:0008947"	"bilateral striopallidodentate calcinosis"	"Orphanet:1980"	"Orphanet:1980"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8800"	"PDGFB"	"Orphanet:1980"	"Bilateral striopallidodentate calcinosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23913003[PMID]_20301594[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17757"	"2021-09-14"
"GENCC_000110-HGNC_15899-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:15899"	"NDUFAF5"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15899"	"NDUFAF5"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18940309[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17842"	"2021-09-14"
"GENCC_000110-HGNC_15899-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:15899"	"NDUFAF5"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15899"	"NDUFAF5"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19542079[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17842"	"2021-09-14"
"GENCC_000110-HGNC_28625-Orphanet_3337-HP_0000006-GENCC_100009"	"HGNC:28625"	"NDUFAF6"	"MONDO:0007600"	"primary Fanconi syndrome"	"Orphanet:3337"	"Orphanet:3337"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28625"	"NDUFAF6"	"Orphanet:3337"	"Primary Fanconi renotubular syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27466185[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17843"	"2021-09-14"
"GENCC_000110-HGNC_28625-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:28625"	"NDUFAF6"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28625"	"NDUFAF6"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18614015[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17843"	"2021-09-14"
"GENCC_000110-HGNC_25033-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:25033"	"LRTOMT"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25033"	"LRTOMT"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17844"	"2021-09-14"
"GENCC_000110-HGNC_15506-Orphanet_2524-HP_0000007-GENCC_100009"	"HGNC:15506"	"TSEN34"	"MONDO:0016759"	"pontocerebellar hypoplasia type 2"	"Orphanet:2524"	"Orphanet:2524"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15506"	"TSEN34"	"Orphanet:2524"	"Pontocerebellar hypoplasia type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18711368[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17845"	"2021-09-14"
"GENCC_000110-HGNC_28422-Orphanet_2524-HP_0000007-GENCC_100009"	"HGNC:28422"	"TSEN2"	"MONDO:0016759"	"pontocerebellar hypoplasia type 2"	"Orphanet:2524"	"Orphanet:2524"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28422"	"TSEN2"	"Orphanet:2524"	"Pontocerebellar hypoplasia type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23562994[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17846"	"2021-09-14"
"GENCC_000110-HGNC_26050-Orphanet_1194-HP_0000007-GENCC_100009"	"HGNC:26050"	"TMEM70"	"MONDO:0013546"	"mitochondrial complex V (ATP synthase) deficiency nuclear type 2"	"Orphanet:1194"	"Orphanet:1194"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26050"	"TMEM70"	"Orphanet:1194"	"TMEM70-related mitochondrial encephalo-cardio-myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21147908[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17847"	"2021-09-14"
"GENCC_000110-HGNC_20151-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:20151"	"SLC17A8"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20151"	"SLC17A8"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17877"	"2021-09-14"
"GENCC_000110-HGNC_20134-Orphanet_255132-HP_0000007-GENCC_100009"	"HGNC:20134"	"GLRX5"	"MONDO:0014804"	"sideroblastic anemia 3"	"Orphanet:255132"	"Orphanet:255132"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20134"	"GLRX5"	"Orphanet:255132"	"Adult-onset autosomal recessive sideroblastic anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17485548[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17878"	"2021-09-14"
"GENCC_000110-HGNC_20134-Orphanet_401866-HP_0000007-GENCC_100009"	"HGNC:20134"	"GLRX5"	"MONDO:0014803"	"spasticity-ataxia-gait anomalies syndrome"	"Orphanet:401866"	"Orphanet:401866"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20134"	"GLRX5"	"Orphanet:401866"	"Childhood-onset spasticity with hyperglycinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24334290[PMID]_24777537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17878"	"2021-09-14"
"GENCC_000110-HGNC_11594-Orphanet_93333-HP_0000007-GENCC_100009"	"HGNC:11594"	"TBX15"	"MONDO:0009845"	"pelviscapular dysplasia"	"Orphanet:93333"	"Orphanet:93333"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11594"	"TBX15"	"Orphanet:93333"	"Pelviscapular dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19068278[PMID]_24039145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17879"	"2021-09-14"
"GENCC_000110-HGNC_18744-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:18744"	"DNAI2"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18744"	"DNAI2"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17880"	"2021-09-14"
"GENCC_000110-HGNC_8773-Orphanet_189439-HP_0000006-GENCC_100009"	"HGNC:8773"	"PDE11A"	"MONDO:0015999"	"primary pigmented nodular adrenocortical disease"	"Orphanet:189439"	"Orphanet:189439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8773"	"PDE11A"	"Orphanet:189439"	"Primary pigmented nodular adrenocortical disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16767104[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17881"	"2021-09-14"
"GENCC_000110-HGNC_21555-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:21555"	"EYS"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21555"	"EYS"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17882"	"2021-09-14"
"GENCC_000110-HGNC_13345-Orphanet_99845-HP_0000006-GENCC_100009"	"HGNC:13345"	"LPIN1"	"MONDO:0020504"	"hereditary recurrent myoglobinuria"	"Orphanet:99845"	"Orphanet:99845"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13345"	"LPIN1"	"Orphanet:99845"	"Genetic recurrent myoglobinuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17883"	"2021-09-14"
"GENCC_000110-HGNC_25676-Orphanet_2078-HP_0000007-GENCC_100009"	"HGNC:25676"	"GORAB"	"MONDO:0009271"	"geroderma osteodysplastica"	"Orphanet:2078"	"Orphanet:2078"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25676"	"GORAB"	"Orphanet:2078"	"Geroderma osteodysplastica"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18997784[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17885"	"2021-09-14"
"GENCC_000110-HGNC_17019-Orphanet_308-HP_0000007-GENCC_100009"	"HGNC:17019"	"PRICKLE1"	"MONDO:0009698"	"Unverricht-Lundborg syndrome"	"Orphanet:308"	"Orphanet:308"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17019"	"PRICKLE1"	"Orphanet:308"	"Progressive myoclonic epilepsy type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18976727[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17886"	"2021-09-14"
"GENCC_000110-HGNC_16001-Orphanet_35706-HP_0000007-GENCC_100009"	"HGNC:16001"	"SUGCT"	"MONDO:0009283"	"glutaric acidemia type 3"	"Orphanet:35706"	"Orphanet:35706"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16001"	"SUGCT"	"Orphanet:35706"	"Glutaric acidemia type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18926513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17887"	"2021-09-14"
"GENCC_000110-HGNC_24861-Orphanet_331176-HP_0000007-GENCC_100009"	"HGNC:24861"	"G6PC3"	"MONDO:0012930"	"autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"	"Orphanet:331176"	"Orphanet:331176"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24861"	"G6PC3"	"Orphanet:331176"	"Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23018568[PMID]_19118303[PMID]_20799326[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17888"	"2021-09-14"
"GENCC_000110-HGNC_25784-Orphanet_3464-HP_0000007-GENCC_100009"	"HGNC:25784"	"DCAF17"	"MONDO:0009419"	"Woodhouse-Sakati syndrome"	"Orphanet:3464"	"Orphanet:3464"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25784"	"DCAF17"	"Orphanet:3464"	"Woodhouse-Sakati syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19026396[PMID]_21964978[PMID]_20507343[PMID]_24464444[PMID]_23447832[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17889"	"2021-09-14"
"GENCC_000110-HGNC_13446-Orphanet_94088-HP_0000007-GENCC_100009"	"HGNC:13446"	"SLC2A9"	"MONDO:0009071"	"hereditary renal hypouricemia"	"Orphanet:94088"	"Orphanet:94088"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13446"	"SLC2A9"	"Orphanet:94088"	"Hereditary renal hypouricemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19926891[PMID]_21810765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17890"	"2021-09-14"
"GENCC_000110-HGNC_10440-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10440"	"RPS7"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10440"	"RPS7"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17891"	"2021-09-14"
"GENCC_000110-HGNC_10360-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10360"	"RPL5"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10360"	"RPL5"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17892"	"2021-09-14"
"GENCC_000110-HGNC_10301-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10301"	"RPL11"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10301"	"RPL11"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17893"	"2021-09-14"
"GENCC_000110-HGNC_10345-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10345"	"RPL35A"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10345"	"RPL35A"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17894"	"2021-09-14"
"GENCC_000110-HGNC_25221-Orphanet_79283-HP_0000007-GENCC_100009"	"HGNC:25221"	"MMADHC"	"MONDO:0010185"	"methylmalonic aciduria and homocystinuria type cblD"	"Orphanet:79283"	"Orphanet:79283"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25221"	"MMADHC"	"Orphanet:79283"	"Methylmalonic acidemia with homocystinuria, type cblD"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301409[PMID]_20301503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17895"	"2021-09-14"
"GENCC_000110-HGNC_1527-Orphanet_528-HP_0000007-GENCC_100009"	"HGNC:1527"	"CAV1"	"MONDO:0018883"	"Berardinelli-Seip congenital lipodystrophy"	"Orphanet:528"	"Orphanet:528"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1527"	"CAV1"	"Orphanet:528"	"Congenital generalized lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18211975[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17896"	"2021-09-14"
"GENCC_000110-HGNC_1527-Orphanet_275777-HP_0000006-GENCC_100009"	"HGNC:1527"	"CAV1"	"MONDO:0017148"	"heritable pulmonary arterial hypertension"	"Orphanet:275777"	"Orphanet:275777"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1527"	"CAV1"	"Orphanet:275777"	"Heritable pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22474227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17896"	"2021-09-14"
"GENCC_000110-HGNC_20188-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:20188"	"DNAAF2"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20188"	"DNAAF2"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17897"	"2021-09-14"
"GENCC_000110-HGNC_1232-Orphanet_247511-HP_0000006-GENCC_100009"	"HGNC:1232"	"EGLN1"	"MONDO:0016599"	"autosomal dominant secondary polycythemia"	"Orphanet:247511"	"Orphanet:247511"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1232"	"EGLN1"	"Orphanet:247511"	"Autosomal dominant secondary polycythemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16407130[PMID]_24115288[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17898"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_2635-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0007986"	"metatropic dysplasia"	"Orphanet:2635"	"Orphanet:2635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:2635"	"Metatropic dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791502[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_1216-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0010839"	"neuronopathy, distal hereditary motor, autosomal dominant 8"	"Orphanet:1216"	"Orphanet:1216"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:1216"	"Autosomal dominant congenital benign spinal muscular atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24830047[PMID]_22526352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_2646-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0008196"	"parastremmatic dwarfism"	"Orphanet:2646"	"Orphanet:2646"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:2646"	"Parastremmatic dwarfism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20503319[PMID]_24830047[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_85169-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0011732"	"familial digital arthropathy-brachydactyly"	"Orphanet:85169"	"Orphanet:85169"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:85169"	"Familial digital arthropathy-brachydactyly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21964574[PMID]_24830047[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_86820-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0012126"	"familial avascular necrosis of femoral head"	"Orphanet:86820"	"Orphanet:86820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:86820"	"Familial avascular necrosis of femoral head"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27330106[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_93304-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0007232"	"autosomal dominant brachyolmia"	"Orphanet:93304"	"Orphanet:93304"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:93304"	"Autosomal dominant brachyolmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18587396[PMID]_24830047[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_93314-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0008477"	"spondylometaphyseal dysplasia, Kozlowski type"	"Orphanet:93314"	"Orphanet:93314"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:93314"	"Spondylometaphyseal dysplasia, Kozlowski type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24830047[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_99937-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0011633"	"Charcot-Marie-Tooth disease axonal type 2C"	"Orphanet:99937"	"Orphanet:99937"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:99937"	"Autosomal dominant Charcot-Marie-Tooth disease type 2C"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_18083-Orphanet_431255-HP_0000006-GENCC_100009"	"HGNC:18083"	"TRPV4"	"MONDO:0008408"	"scapuloperoneal spinal muscular atrophy, autosomal dominant"	"Orphanet:431255"	"Orphanet:431255"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18083"	"TRPV4"	"Orphanet:431255"	"Scapuloperoneal spinal muscular atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20037587[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17899"	"2021-09-14"
"GENCC_000110-HGNC_7603-Orphanet_2290-HP_0000007-GENCC_100009"	"HGNC:7603"	"MYO5B"	"MONDO:0009635"	"microvillus inclusion disease"	"Orphanet:2290"	"Orphanet:2290"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7603"	"MYO5B"	"Orphanet:2290"	"Microvillus inclusion disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20186687[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17900"	"2021-09-14"
"GENCC_000110-HGNC_7603-Orphanet_79306-HP_0000007-GENCC_100009"	"HGNC:7603"	"MYO5B"	"MONDO:0008892"	"progressive familial intrahepatic cholestasis type 1"	"Orphanet:79306"	"Orphanet:79306"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7603"	"MYO5B"	"Orphanet:79306"	"Progressive familial intrahepatic cholestasis type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27532546[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17900"	"2021-09-14"
"GENCC_000110-HGNC_11633-Orphanet_33110-HP_0000006-GENCC_100009"	"HGNC:11633"	"TCF3"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"Orphanet:33110"	"Orphanet:33110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11633"	"TCF3"	"Orphanet:33110"	"Autosomal agammaglobulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24216514[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17918"	"2021-09-14"
"GENCC_000110-HGNC_10879-Orphanet_2162-HP_0000007-GENCC_100009"	"HGNC:10879"	"STIL"	"MONDO:0016296"	"holoprosencephaly"	"Orphanet:2162"	"Orphanet:2162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10879"	"STIL"	"Orphanet:2162"	"Holoprosencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29785796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17920"	"2021-09-14"
"GENCC_000110-HGNC_10879-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:10879"	"STIL"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10879"	"STIL"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17920"	"2021-09-14"
"GENCC_000110-HGNC_23096-Orphanet_1782-HP_0000007-GENCC_100009"	"HGNC:23096"	"SLC29A3"	"MONDO:0009138"	"dysosteosclerosis"	"Orphanet:1782"	"Orphanet:1782"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23096"	"SLC29A3"	"Orphanet:1782"	"Dysosteosclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17964"	"2021-09-14"
"GENCC_000110-HGNC_23096-Orphanet_168569-HP_0000007-GENCC_100009"	"HGNC:23096"	"SLC29A3"	"MONDO:0011273"	"H syndrome"	"Orphanet:168569"	"Orphanet:168569"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23096"	"SLC29A3"	"Orphanet:168569"	"H syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18940313[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17964"	"2021-09-14"
"GENCC_000110-HGNC_3686-Orphanet_2162-HP_0000007-GENCC_100009"	"HGNC:3686"	"FGF8"	"MONDO:0016296"	"holoprosencephaly"	"Orphanet:2162"	"Orphanet:2162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3686"	"FGF8"	"Orphanet:2162"	"Holoprosencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29785796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17965"	"2021-09-14"
"GENCC_000110-HGNC_3686-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:3686"	"FGF8"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3686"	"FGF8"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18596921[PMID]_20463092[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17965"	"2021-09-14"
"GENCC_000110-HGNC_3686-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:3686"	"FGF8"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3686"	"FGF8"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18596921[PMID]_20463092[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17965"	"2021-09-14"
"GENCC_000110-HGNC_12367-Orphanet_168566-HP_0000007-GENCC_100009"	"HGNC:12367"	"TSFM"	"MONDO:0012512"	"fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"	"Orphanet:168566"	"Orphanet:168566"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12367"	"TSFM"	"Orphanet:168566"	"Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17033963[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17966"	"2021-09-14"
"GENCC_000110-HGNC_1983-Orphanet_168583-HP_0000007-GENCC_100009"	"HGNC:1983"	"UTP4"	"MONDO:0011497"	"hereditary North American Indian childhood cirrhosis"	"Orphanet:168583"	"Orphanet:168583"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1983"	"UTP4"	"Orphanet:168583"	"Hereditary North American Indian childhood cirrhosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12417987[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17967"	"2021-09-14"
"GENCC_000110-HGNC_4795-Orphanet_168588-HP_0000006-GENCC_100009"	"HGNC:4795"	"H6PD"	"MONDO:0000193"	"cortisone reductase deficiency"	"Orphanet:168588"	"Orphanet:168588"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4795"	"H6PD"	"Orphanet:168588"	"Hyperandrogenism due to cortisone reductase deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18628520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17968"	"2021-09-14"
"GENCC_000110-HGNC_5208-Orphanet_168588-HP_0000006-GENCC_100009"	"HGNC:5208"	"HSD11B1"	"MONDO:0000193"	"cortisone reductase deficiency"	"Orphanet:168588"	"Orphanet:168588"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5208"	"HSD11B1"	"Orphanet:168588"	"Hyperandrogenism due to cortisone reductase deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21325058[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17969"	"2021-09-14"
"GENCC_000110-HGNC_12382-Orphanet_168593-HP_0000007-GENCC_100009"	"HGNC:12382"	"TSPYL1"	"MONDO:0012124"	"sudden infant death-dysgenesis of the testes syndrome"	"Orphanet:168593"	"Orphanet:168593"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12382"	"TSPYL1"	"Orphanet:168593"	"Sudden infant death-dysgenesis of the testes syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15273283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17970"	"2021-09-14"
"GENCC_000110-HGNC_6903-Orphanet_168598-HP_0000007-GENCC_100009"	"HGNC:6903"	"MAT1A"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"Orphanet:168598"	"Orphanet:168598"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6903"	"MAT1A"	"Orphanet:168598"	"Brain demyelination due to methionine adenosyltransferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22951388[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17971"	"2021-09-14"
"GENCC_000110-HGNC_9490-Orphanet_168601-HP_0000007-GENCC_100009"	"HGNC:9490"	"TMPRSS15"	"MONDO:0009173"	"congenital enteropathy due to enteropeptidase deficiency"	"Orphanet:168601"	"Orphanet:168601"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9490"	"TMPRSS15"	"Orphanet:168601"	"Congenital enteropathy due to enteropeptidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11719902[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17972"	"2021-09-14"
"GENCC_000110-HGNC_25843-Orphanet_168606-HP_0000006-GENCC_100009"	"HGNC:25843"	"ZNF750"	"MONDO:0012446"	"seborrhea-like dermatitis with psoriasiform elements"	"Orphanet:168606"	"Orphanet:168606"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25843"	"ZNF750"	"Orphanet:168606"	"Seborrhea-like dermatitis with psoriasiform elements"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16751772[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17973"	"2021-09-14"
"GENCC_000110-HGNC_317-Orphanet_168615-HP_0000006-GENCC_100009"	"HGNC:317"	"AFP"	"MONDO:0014425"	"hereditary persistence of alpha-fetoprotein"	"Orphanet:168615"	"Orphanet:168615"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:317"	"AFP"	"Orphanet:168615"	"Hereditary persistence of alpha-fetoprotein"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7684942[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17974"	"2021-09-14"
"GENCC_000110-HGNC_19986-Orphanet_168629-HP_0000006-GENCC_100009"	"HGNC:19986"	"CYCS"	"MONDO:0015679"	"autosomal thrombocytopenia with normal platelets"	"Orphanet:168629"	"Orphanet:168629"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19986"	"CYCS"	"Orphanet:168629"	"Autosomal thrombocytopenia with normal platelets"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18345000[PMID]_24326104[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17975"	"2021-09-14"
"GENCC_000110-HGNC_18762-Orphanet_42062-HP_0000007-GENCC_100009"	"HGNC:18762"	"SLC36A2"	"MONDO:0009448"	"iminoglycinuria"	"Orphanet:42062"	"Orphanet:42062"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18762"	"SLC36A2"	"Orphanet:42062"	"Iminoglycinuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19033659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17976"	"2021-09-14"
"GENCC_000110-HGNC_26837-Orphanet_2780-HP_0001417-GENCC_100009"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"Orphanet:2780"	"Orphanet:2780"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:26837"	"AMER1"	"Orphanet:2780"	"Osteopathia striata-cranial sclerosis syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19079258[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17979"	"2021-09-14"
"GENCC_000110-HGNC_362-Orphanet_33355-HP_0000007-GENCC_100009"	"HGNC:362"	"AK2"	"MONDO:0009973"	"reticular dysgenesis"	"Orphanet:33355"	"Orphanet:33355"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:362"	"AK2"	"Orphanet:33355"	"Reticular dysgenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19043416[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17980"	"2021-09-14"
"GENCC_000110-HGNC_2731-Orphanet_93358-HP_0000007-GENCC_100009"	"HGNC:2731"	"DDR2"	"MONDO:0010077"	"spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	"Orphanet:93358"	"Orphanet:93358"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2731"	"DDR2"	"Orphanet:93358"	"Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19110212[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17982"	"2021-09-14"
"GENCC_000110-HGNC_6545-Orphanet_263508-HP_0000007-GENCC_100009"	"HGNC:6545"	"COG1"	"MONDO:0012637"	"COG1-congenital disorder of glycosylation"	"Orphanet:263508"	"Orphanet:263508"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6545"	"COG1"	"Orphanet:263508"	"COG1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17983"	"2021-09-14"
"GENCC_000110-HGNC_23038-Orphanet_79284-HP_0000007-GENCC_100009"	"HGNC:23038"	"LMBRD1"	"MONDO:0010183"	"methylmalonic aciduria and homocystinuria type cblF"	"Orphanet:79284"	"Orphanet:79284"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23038"	"LMBRD1"	"Orphanet:79284"	"Methylmalonic acidemia with homocystinuria type cblF"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17984"	"2021-09-14"
"GENCC_000110-HGNC_5385-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:5385"	"IDH3B"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5385"	"IDH3B"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"17986"	"2021-09-14"
"GENCC_000110-HGNC_21057-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:21057"	"RSPH9"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21057"	"RSPH9"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18003"	"2021-09-14"
"GENCC_000110-HGNC_21558-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:21558"	"RSPH4A"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21558"	"RSPH4A"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18004"	"2021-09-14"
"GENCC_000110-HGNC_559-Orphanet_171851-HP_0000007-GENCC_100009"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"Orphanet:171851"	"Orphanet:171851"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:559"	"AP1S1"	"Orphanet:171851"	"MEDNIK syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19057675[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18005"	"2021-09-14"
"GENCC_000110-HGNC_21197-Orphanet_171629-HP_0000007-GENCC_100009"	"HGNC:21197"	"FA2H"	"MONDO:0012866"	"hereditary spastic paraplegia 35"	"Orphanet:171629"	"Orphanet:171629"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21197"	"FA2H"	"Orphanet:171629"	"Autosomal recessive spastic paraplegia type 35"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20104589[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18006"	"2021-09-14"
"GENCC_000110-HGNC_19706-Orphanet_1885-HP_0000006-GENCC_100009"	"HGNC:19706"	"ADAMTSL4"	"MONDO:0015998"	"isolated ectopia lentis"	"Orphanet:1885"	"Orphanet:1885"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19706"	"ADAMTSL4"	"Orphanet:1885"	"Isolated ectopia lentis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18056"	"2021-09-14"
"GENCC_000110-HGNC_105-Orphanet_1873-HP_0000007-GENCC_100009"	"HGNC:105"	"CNNM4"	"MONDO:0009007"	"Jalili syndrome"	"Orphanet:1873"	"Orphanet:1873"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:105"	"CNNM4"	"Orphanet:1873"	"Jalili syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19200525[PMID]_24194943[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18057"	"2021-09-14"
"GENCC_000110-HGNC_23151-Orphanet_99844-HP_0000007-GENCC_100009"	"HGNC:23151"	"FERMT3"	"MONDO:0013016"	"leukocyte adhesion deficiency 3"	"Orphanet:99844"	"Orphanet:99844"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23151"	"FERMT3"	"Orphanet:99844"	"Leukocyte adhesion deficiency type III"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18059"	"2021-09-14"
"GENCC_000110-HGNC_11521-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:11521"	"TAC3"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11521"	"TAC3"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19079066[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18060"	"2021-09-14"
"GENCC_000110-HGNC_11528-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:11528"	"TACR3"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11528"	"TACR3"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]_19079066[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18061"	"2021-09-14"
"GENCC_000110-HGNC_11528-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:11528"	"TACR3"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11528"	"TACR3"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19079066[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18061"	"2021-09-14"
"GENCC_000110-HGNC_20856-Orphanet_98806-HP_0000006-GENCC_100009"	"HGNC:20856"	"THAP1"	"MONDO:0011264"	"torsion dystonia 6"	"Orphanet:98806"	"Orphanet:98806"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20856"	"THAP1"	"Orphanet:98806"	"Primary dystonia, DYT6 type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301334[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18062"	"2021-09-14"
"GENCC_000110-HGNC_20423-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:20423"	"SPATA7"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20423"	"SPATA7"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19268277[PMID]_20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18063"	"2021-09-14"
"GENCC_000110-HGNC_20423-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:20423"	"SPATA7"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20423"	"SPATA7"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19268277[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18063"	"2021-09-14"
"GENCC_000110-HGNC_20423-Orphanet_364055-HP_0000007-GENCC_100009"	"HGNC:20423"	"SPATA7"	"MONDO:0009549"	"severe early-childhood-onset retinal dystrophy"	"Orphanet:364055"	"Orphanet:364055"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20423"	"SPATA7"	"Orphanet:364055"	"Severe early-childhood-onset retinal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21310915[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18063"	"2021-09-14"
"GENCC_000110-HGNC_25419-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:25419"	"ARL13B"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25419"	"ARL13B"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18674751[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18076"	"2021-09-14"
"GENCC_000110-HGNC_23319-Orphanet_3095-HP_0000006-GENCC_100009"	"HGNC:23319"	"NTNG1"	"MONDO:0017746"	"atypical Rett syndrome"	"Orphanet:3095"	"Orphanet:3095"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23319"	"NTNG1"	"Orphanet:3095"	"Atypical Rett syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17903671[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18077"	"2021-09-14"
"GENCC_000110-HGNC_23319-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:23319"	"NTNG1"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23319"	"NTNG1"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31668703[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18077"	"2021-09-14"
"GENCC_000110-HGNC_11344-Orphanet_91132-HP_0000007-GENCC_100009"	"HGNC:11344"	"ST14"	"MONDO:0011218"	"autosomal recessive congenital ichthyosis 11"	"Orphanet:91132"	"Orphanet:91132"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11344"	"ST14"	"Orphanet:91132"	"Ichthyosis-hypotrichosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17273967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18078"	"2021-09-14"
"GENCC_000110-HGNC_6344-Orphanet_306661-HP_0000007-GENCC_100009"	"HGNC:6344"	"KL"	"MONDO:0008897"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"Orphanet:306661"	"Orphanet:306661"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6344"	"KL"	"Orphanet:306661"	"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17710231[PMID]_22142751[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18079"	"2021-09-14"
"GENCC_000110-HGNC_1069-Orphanet_93396-HP_0000006-GENCC_100009"	"HGNC:1069"	"BMP2"	"MONDO:0007216"	"brachydactyly type A2"	"Orphanet:93396"	"Orphanet:93396"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1069"	"BMP2"	"Orphanet:93396"	"Brachydactyly type A2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19327734[PMID]_24710560[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18080"	"2021-09-14"
"GENCC_000110-HGNC_2252-Orphanet_228003-HP_0000007-GENCC_100009"	"HGNC:2252"	"CORO1A"	"MONDO:0014168"	"severe combined immunodeficiency due to CORO1A deficiency"	"Orphanet:228003"	"Orphanet:228003"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2252"	"CORO1A"	"Orphanet:228003"	"Severe combined immunodeficiency due to CORO1A deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23522482[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18081"	"2021-09-14"
"GENCC_000110-HGNC_10468-Orphanet_100993-HP_0000006-GENCC_100009"	"HGNC:10468"	"RTN2"	"MONDO:0011489"	"hereditary spastic paraplegia 12"	"Orphanet:100993"	"Orphanet:100993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10468"	"RTN2"	"Orphanet:100993"	"Autosomal dominant spastic paraplegia type 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22232211[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18120"	"2021-09-14"
"GENCC_000110-HGNC_95-Orphanet_171863-HP_0000006-GENCC_100009"	"HGNC:95"	"SLC33A1"	"MONDO:0012928"	"hereditary spastic paraplegia 42"	"Orphanet:171863"	"Orphanet:171863"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:95"	"SLC33A1"	"Orphanet:171863"	"Autosomal dominant spastic paraplegia type 42"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19061983[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18122"	"2021-09-14"
"GENCC_000110-HGNC_95-Orphanet_300313-HP_0000007-GENCC_100009"	"HGNC:95"	"SLC33A1"	"MONDO:0013772"	"Huppke-Brendel syndrome"	"Orphanet:300313"	"Orphanet:300313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:95"	"SLC33A1"	"Orphanet:300313"	"Congenital cataract-hearing loss-severe developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22243965[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18122"	"2021-09-14"
"GENCC_000110-HGNC_19714-Orphanet_101008-HP_0000007-GENCC_100009"	"HGNC:19714"	"DDHD1"	"MONDO:0012256"	"hereditary spastic paraplegia 28"	"Orphanet:101008"	"Orphanet:101008"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19714"	"DDHD1"	"Orphanet:101008"	"Autosomal recessive spastic paraplegia type 28"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23176821[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18140"	"2021-09-14"
"GENCC_000110-HGNC_13586-Orphanet_171695-HP_0000007-GENCC_100009"	"HGNC:13586"	"FBXO7"	"MONDO:0009830"	"parkinsonian-pyramidal syndrome"	"Orphanet:171695"	"Orphanet:171695"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13586"	"FBXO7"	"Orphanet:171695"	"Parkinsonian-pyramidal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19038853[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18162"	"2021-09-14"
"GENCC_000110-HGNC_3372-Orphanet_171703-HP_0000007-GENCC_100009"	"HGNC:3372"	"EOMES"	"MONDO:0015745"	"microcephaly-polymicrogyria-corpus callosum agenesis syndrome"	"Orphanet:171703"	"Orphanet:171703"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3372"	"EOMES"	"Orphanet:171703"	"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17353897[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18163"	"2021-09-14"
"GENCC_000110-HGNC_30972-Orphanet_171706-HP_0000007-GENCC_100009"	"HGNC:30972"	"SECISBP2"	"MONDO:0012332"	"short stature-delayed bone age due to thyroid hormone metabolism deficiency"	"Orphanet:171706"	"Orphanet:171706"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30972"	"SECISBP2"	"Orphanet:171706"	"Short stature-delayed bone age due to thyroid hormone metabolism deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16228000[PMID]_19602558[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18164"	"2021-09-14"
"GENCC_000110-HGNC_29935-Orphanet_171709-HP_0000007-GENCC_100009"	"HGNC:29935"	"SPATA16"	"MONDO:0015746"	"male infertility due to globozoospermia"	"Orphanet:171709"	"Orphanet:171709"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29935"	"SPATA16"	"Orphanet:171709"	"Male infertility due to globozoospermia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17847006[PMID]_22571172[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18165"	"2021-09-14"
"GENCC_000110-HGNC_6441-Orphanet_171723-HP_0000006-GENCC_100009"	"HGNC:6441"	"KRT4"	"MONDO:0015748"	"hereditary mucosal leukokeratosis"	"Orphanet:171723"	"Orphanet:171723"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6441"	"KRT4"	"Orphanet:171723"	"White sponge nevus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10652003[PMID]_12828738[PMID]_23182699[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18167"	"2021-09-14"
"GENCC_000110-HGNC_6415-Orphanet_171723-HP_0000006-GENCC_100009"	"HGNC:6415"	"KRT13"	"MONDO:0015748"	"hereditary mucosal leukokeratosis"	"Orphanet:171723"	"Orphanet:171723"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6415"	"KRT13"	"Orphanet:171723"	"White sponge nevus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"7493031[PMID]_10561721[PMID]_11379896[PMID]_14600690[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18168"	"2021-09-14"
"GENCC_000110-HGNC_1943-Orphanet_233-HP_0000006-GENCC_100009"	"HGNC:1943"	"CHN1"	"MONDO:0007473"	"Duane retraction syndrome"	"Orphanet:233"	"Orphanet:233"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1943"	"CHN1"	"Orphanet:233"	"Duane retraction syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18653847[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18228"	"2021-09-14"
"GENCC_000110-HGNC_12765-Orphanet_169095-HP_0000006-GENCC_100009"	"HGNC:12765"	"FOXN1"	"MONDO:0011132"	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	"Orphanet:169095"	"Orphanet:169095"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12765"	"FOXN1"	"Orphanet:169095"	"Severe combined immunodeficiency due to FOXN1 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10206641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18346"	"2021-09-14"
"GENCC_000110-HGNC_24862-Orphanet_79330-HP_0000007-GENCC_100009"	"HGNC:24862"	"MOGS"	"MONDO:0011629"	"MOGS-congenital disorder of glycosylation"	"Orphanet:79330"	"Orphanet:79330"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24862"	"MOGS"	"Orphanet:79330"	"MOGS-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18347"	"2021-09-14"
"GENCC_000110-HGNC_1836-Orphanet_169142-HP_0000007-GENCC_100009"	"HGNC:1836"	"CEBPE"	"MONDO:0009506"	"specific granule deficiency"	"Orphanet:169142"	"Orphanet:169142"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1836"	"CEBPE"	"Orphanet:169142"	"Recurrent infection due to specific granule deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10359588[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18349"	"2021-09-14"
"GENCC_000110-HGNC_11559-Orphanet_101028-HP_0000007-GENCC_100009"	"HGNC:11559"	"TALDO1"	"MONDO:0011624"	"transaldolase deficiency"	"Orphanet:101028"	"Orphanet:101028"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11559"	"TALDO1"	"Orphanet:101028"	"Transaldolase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23315216[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18350"	"2021-09-14"
"GENCC_000110-HGNC_20371-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:20371"	"NDUFA11"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20371"	"NDUFA11"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18306244[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18352"	"2021-09-14"
"GENCC_000110-HGNC_3374-Orphanet_247511-HP_0000006-GENCC_100009"	"HGNC:3374"	"EPAS1"	"MONDO:0016599"	"autosomal dominant secondary polycythemia"	"Orphanet:247511"	"Orphanet:247511"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3374"	"EPAS1"	"Orphanet:247511"	"Autosomal dominant secondary polycythemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18184961[PMID]_24115288[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18353"	"2021-09-14"
"GENCC_000110-HGNC_8063-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:8063"	"NUP155"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8063"	"NUP155"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19070573[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18355"	"2021-09-14"
"GENCC_000110-HGNC_12775-Orphanet_2440-HP_0000006-GENCC_100009"	"HGNC:12775"	"WNT10B"	"MONDO:0016576"	"split hand-foot malformation"	"Orphanet:2440"	"Orphanet:2440"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12775"	"WNT10B"	"Orphanet:2440"	"Isolated split hand-split foot malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18515319[PMID]_20635353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18356"	"2021-09-14"
"GENCC_000110-HGNC_12775-Orphanet_99798-HP_0000006-GENCC_100009"	"HGNC:12775"	"WNT10B"	"MONDO:0005486"	"tooth agenesis"	"Orphanet:99798"	"Orphanet:99798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12775"	"WNT10B"	"Orphanet:99798"	"Oligodontia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27321946[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18356"	"2021-09-14"
"GENCC_000110-HGNC_2962-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:2962"	"DYNC2H1"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2962"	"DYNC2H1"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23456818[PMID]_23339108[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18357"	"2021-09-14"
"GENCC_000110-HGNC_2962-Orphanet_93269-HP_0000007-GENCC_100009"	"HGNC:2962"	"DYNC2H1"	"MONDO:0019662"	"short rib-polydactyly syndrome, Majewski type"	"Orphanet:93269"	"Orphanet:93269"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2962"	"DYNC2H1"	"Orphanet:93269"	"Short rib-polydactyly syndrome, Majewski type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791528[PMID]_21211617[PMID]_22499340[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18357"	"2021-09-14"
"GENCC_000110-HGNC_2962-Orphanet_93270-HP_0000007-GENCC_100009"	"HGNC:2962"	"DYNC2H1"	"MONDO:0013127"	"asphyxiating thoracic dystrophy 3"	"Orphanet:93270"	"Orphanet:93270"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2962"	"DYNC2H1"	"Orphanet:93270"	"Short rib-polydactyly syndrome, Saldino-Noonan type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27925158[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18357"	"2021-09-14"
"GENCC_000110-HGNC_2962-Orphanet_93271-HP_0000007-GENCC_100009"	"HGNC:2962"	"DYNC2H1"	"MONDO:0019664"	"short rib-polydactyly syndrome, Verma-Naumoff type"	"Orphanet:93271"	"Orphanet:93271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2962"	"DYNC2H1"	"Orphanet:93271"	"Short rib-polydactyly syndrome, Verma-Naumoff type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791528[PMID]_19442771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18357"	"2021-09-14"
"GENCC_000110-HGNC_11497-Orphanet_1942-HP_0000005-GENCC_100009"	"HGNC:11497"	"SYNGAP1"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"Orphanet:1942"	"Orphanet:1942"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11497"	"SYNGAP1"	"Orphanet:1942"	"Myoclonic-astatic epilepsy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32469098[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18361"	"2021-09-14"
"GENCC_000110-HGNC_11497-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:11497"	"SYNGAP1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11497"	"SYNGAP1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23161826[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18361"	"2021-09-14"
"GENCC_000110-HGNC_11497-Orphanet_544254-HP_0000006-GENCC_100009"	"HGNC:11497"	"SYNGAP1"	"MONDO:0034099"	"SYNGAP1-related developmental and epileptic encephalopathy"	"Orphanet:544254"	"Orphanet:544254"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11497"	"SYNGAP1"	"Orphanet:544254"	"SYNGAP1-related developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30541864[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18361"	"2021-09-14"
"GENCC_000110-HGNC_601-Orphanet_238269-HP_0000006-GENCC_100009"	"HGNC:601"	"APOA2"	"MONDO:0016533"	"apolipoprotein A-II amyloidosis"	"Orphanet:238269"	"Orphanet:238269"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:601"	"APOA2"	"Orphanet:238269"	"AApoAII amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11401442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18362"	"2021-09-14"
"GENCC_000110-HGNC_6716-Orphanet_969-HP_0000006-GENCC_100009"	"HGNC:6716"	"LTBP3"	"MONDO:0007055"	"Acromicric dysplasia"	"Orphanet:969"	"Orphanet:969"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6716"	"LTBP3"	"Orphanet:969"	"Acromicric dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27068007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18363"	"2021-09-14"
"GENCC_000110-HGNC_6716-Orphanet_2623-HP_0000006-GENCC_100009"	"HGNC:6716"	"LTBP3"	"MONDO:0000127"	"geleophysic dysplasia"	"Orphanet:2623"	"Orphanet:2623"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6716"	"LTBP3"	"Orphanet:2623"	"Geleophysic dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27068007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18363"	"2021-09-14"
"GENCC_000110-HGNC_6716-Orphanet_2899-HP_0000007-GENCC_100009"	"HGNC:6716"	"LTBP3"	"MONDO:0011018"	"brachyolmia-amelogenesis imperfecta syndrome"	"Orphanet:2899"	"Orphanet:2899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6716"	"LTBP3"	"Orphanet:2899"	"Brachyolmia-amelogenesis imperfecta syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25669657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18363"	"2021-09-14"
"GENCC_000110-HGNC_6912-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:6912"	"MATR3"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6912"	"MATR3"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24686783[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18364"	"2021-09-14"
"GENCC_000110-HGNC_6912-Orphanet_600-HP_0000006-GENCC_100009"	"HGNC:6912"	"MATR3"	"MONDO:0018951"	"distal myopathy with vocal cord weakness"	"Orphanet:600"	"Orphanet:600"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6912"	"MATR3"	"Orphanet:600"	"Vocal cord and pharyngeal distal myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19344878[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18364"	"2021-09-14"
"GENCC_000110-HGNC_15455-Orphanet_666-HP_0000006-GENCC_100009"	"HGNC:15455"	"MBTPS2"	"MONDO:0019019"	"osteogenesis imperfecta"	"Orphanet:666"	"Orphanet:666"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15455"	"MBTPS2"	"Orphanet:666"	"Osteogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27380894[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18365"	"2021-09-14"
"GENCC_000110-HGNC_15455-Orphanet_2273-HP_0000006-GENCC_100009"	"HGNC:15455"	"MBTPS2"	"MONDO:0100213"	"IFAP syndrome 1, with or without BRESHECK syndrome"	"Orphanet:2273"	"Orphanet:2273"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15455"	"MBTPS2"	"Orphanet:2273"	"Ichthyosis follicularis-alopecia-photophobia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21600032[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18365"	"2021-09-14"
"GENCC_000110-HGNC_15455-Orphanet_2340-HP_0000006-GENCC_100009"	"HGNC:15455"	"MBTPS2"	"MONDO:0000136"	"keratosis follicularis spinulosa decalvans"	"Orphanet:2340"	"Orphanet:2340"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15455"	"MBTPS2"	"Orphanet:2340"	"Keratosis follicularis spinulosa decalvans"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20672378[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18365"	"2021-09-14"
"GENCC_000110-HGNC_15455-Orphanet_659-HP_0000006-GENCC_100009"	"HGNC:15455"	"MBTPS2"	"MONDO:0019014"	"mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"Orphanet:659"	"Orphanet:659"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15455"	"MBTPS2"	"Orphanet:659"	"Mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22931912[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18365"	"2021-09-14"
"GENCC_000110-HGNC_15455-Orphanet_85284-HP_0001417-GENCC_100009"	"HGNC:15455"	"MBTPS2"	"MONDO:0019414"	"BRESEK syndrome"	"Orphanet:85284"	"Orphanet:85284"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:15455"	"MBTPS2"	"Orphanet:85284"	"BRESEK syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22105905[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18365"	"2021-09-14"
"GENCC_000110-HGNC_22082-Orphanet_25980-HP_0001417-GENCC_100009"	"HGNC:22082"	"VMA21"	"MONDO:0010684"	"X-linked myopathy with excessive autophagy"	"Orphanet:25980"	"Orphanet:25980"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:22082"	"VMA21"	"Orphanet:25980"	"X-linked myopathy with excessive autophagy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23315026[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18367"	"2021-09-14"
"GENCC_000110-HGNC_449-Orphanet_391474-HP_0000007-GENCC_100009"	"HGNC:449"	"ALX3"	"MONDO:0007636"	"frontorhiny"	"Orphanet:391474"	"Orphanet:391474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:449"	"ALX3"	"Orphanet:391474"	"Frontorhiny"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19409524[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18368"	"2021-09-14"
"GENCC_000110-HGNC_6774-Orphanet_275777-HP_0000006-GENCC_100009"	"HGNC:6774"	"SMAD9"	"MONDO:0017148"	"heritable pulmonary arterial hypertension"	"Orphanet:275777"	"Orphanet:275777"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6774"	"SMAD9"	"Orphanet:275777"	"Heritable pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21920918[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18370"	"2021-09-14"
"GENCC_000110-HGNC_6256-Orphanet_705-HP_0000007-GENCC_100009"	"HGNC:6256"	"KCNJ10"	"MONDO:0010134"	"Pendred syndrome"	"Orphanet:705"	"Orphanet:705"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6256"	"KCNJ10"	"Orphanet:705"	"Pendred syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301640[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18371"	"2021-09-14"
"GENCC_000110-HGNC_6256-Orphanet_199343-HP_0000007-GENCC_100009"	"HGNC:6256"	"KCNJ10"	"MONDO:0013005"	"EAST syndrome"	"Orphanet:199343"	"Orphanet:199343"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6256"	"KCNJ10"	"Orphanet:199343"	"EAST syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19289823[PMID]_20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18371"	"2021-09-14"
"GENCC_000110-HGNC_6715-Orphanet_3449-HP_0000006-GENCC_100009"	"HGNC:6715"	"LTBP2"	"MONDO:0018096"	"Weill-Marchesani syndrome"	"Orphanet:3449"	"Orphanet:3449"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6715"	"LTBP2"	"Orphanet:3449"	"Weill-Marchesani syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301293[PMID]_22539340[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18372"	"2021-09-14"
"GENCC_000110-HGNC_6715-Orphanet_98976-HP_0000006-GENCC_100009"	"HGNC:6715"	"LTBP2"	"MONDO:0020366"	"congenital glaucoma"	"Orphanet:98976"	"Orphanet:98976"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6715"	"LTBP2"	"Orphanet:98976"	"Congenital glaucoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19361779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18372"	"2021-09-14"
"GENCC_000110-HGNC_6715-Orphanet_238763-HP_0000007-GENCC_100009"	"HGNC:6715"	"LTBP2"	"MONDO:0016559"	"glaucoma secondary to spherophakia/ectopia lentis and megalocornea"	"Orphanet:238763"	"Orphanet:238763"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6715"	"LTBP2"	"Orphanet:238763"	"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20179738[PMID]_22025892[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18372"	"2021-09-14"
"GENCC_000110-HGNC_1754-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:1754"	"CDH15"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1754"	"CDH15"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19012874[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18418"	"2021-09-14"
"GENCC_000110-HGNC_23204-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:23204"	"KIRREL3"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23204"	"KIRREL3"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19012874[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18419"	"2021-09-14"
"GENCC_000110-HGNC_26054-Orphanet_260305-HP_0000007-GENCC_100009"	"HGNC:26054"	"SLC25A38"	"MONDO:0016828"	"autosomal recessive sideroblastic anemia"	"Orphanet:260305"	"Orphanet:260305"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26054"	"SLC25A38"	"Orphanet:260305"	"Autosomal recessive sideroblastic anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19412178[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18423"	"2021-09-14"
"GENCC_000110-HGNC_358-Orphanet_99725-HP_0000006-GENCC_100009"	"HGNC:358"	"AIP"	"MONDO:0020479"	"pituitary gigantism"	"Orphanet:99725"	"Orphanet:99725"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:358"	"AIP"	"Orphanet:99725"	"Pituitary gigantism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26187128[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18425"	"2021-09-14"
"GENCC_000110-HGNC_358-Orphanet_314777-HP_0000006-GENCC_100009"	"HGNC:358"	"AIP"	"MONDO:0017824"	"familial isolated pituitary adenoma"	"Orphanet:314777"	"Orphanet:314777"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:358"	"AIP"	"Orphanet:314777"	"Familial isolated pituitary adenoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22720333[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18425"	"2021-09-14"
"GENCC_000110-HGNC_1785-Orphanet_276152-HP_0000006-GENCC_100009"	"HGNC:1785"	"CDKN1B"	"MONDO:0012552"	"multiple endocrine neoplasia type 4"	"Orphanet:276152"	"Orphanet:276152"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1785"	"CDKN1B"	"Orphanet:276152"	"Multiple endocrine neoplasia type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25416039[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18426"	"2021-09-14"
"GENCC_000110-HGNC_8618-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:8618"	"PAX4"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8618"	"PAX4"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17426099[PMID]_21263211[PMID]_22521316[PMID]_25041077[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18427"	"2021-09-14"
"GENCC_000110-HGNC_3229-Orphanet_34527-HP_0000006-GENCC_100009"	"HGNC:3229"	"EGF"	"MONDO:0018101"	"familial primary hypomagnesemia with normocalciuria and normocalcemia"	"Orphanet:34527"	"Orphanet:34527"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3229"	"EGF"	"Orphanet:34527"	"Familial primary hypomagnesemia with normocalciuria and normocalcemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17671655[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18428"	"2021-09-14"
"GENCC_000110-HGNC_4679-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:4679"	"GUCA1B"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4679"	"GUCA1B"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18431"	"2021-09-14"
"GENCC_000110-HGNC_21071-Orphanet_95716-HP_0000007-GENCC_100009"	"HGNC:21071"	"IYD"	"MONDO:0010132"	"familial thyroid dyshormonogenesis"	"Orphanet:95716"	"Orphanet:95716"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21071"	"IYD"	"Orphanet:95716"	"Familial thyroid dyshormonogenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20537182[PMID]_21543982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18432"	"2021-09-14"
"GENCC_000110-HGNC_24945-Orphanet_535458-HP_0000007-GENCC_100009"	"HGNC:24945"	"GPIHBP1"	"MONDO:0014412"	"hyperlipoproteinemia, type 1D"	"Orphanet:535458"	"Orphanet:535458"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24945"	"GPIHBP1"	"Orphanet:535458"	"Familial GPIHBP1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25732519[PMID]_29980054[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18433"	"2021-09-14"
"GENCC_000110-HGNC_392-Orphanet_79085-HP_0000006-GENCC_100009"	"HGNC:392"	"AKT2"	"MONDO:0019192"	"AKT2-related familial partial lipodystrophy"	"Orphanet:79085"	"Orphanet:79085"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:392"	"AKT2"	"Orphanet:79085"	"AKT2-related familial partial lipodystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16409151[PMID]_21865368[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18434"	"2021-09-14"
"GENCC_000110-HGNC_392-Orphanet_293964-HP_0000006-GENCC_100009"	"HGNC:392"	"AKT2"	"MONDO:0009416"	"hypoinsulinemic hypoglycemia and body hemihypertrophy"	"Orphanet:293964"	"Orphanet:293964"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:392"	"AKT2"	"Orphanet:293964"	"Hypoinsulinemic hypoglycemia and body hemihypertrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21979934[PMID]_24285683[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18434"	"2021-09-14"
"GENCC_000110-HGNC_7562-Orphanet_183713-HP_0000007-GENCC_100009"	"HGNC:7562"	"MYD88"	"MONDO:0012839"	"pyogenic bacterial infections due to MyD88 deficiency"	"Orphanet:183713"	"Orphanet:183713"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7562"	"MYD88"	"Orphanet:183713"	"Bacterial susceptibility due to TLR signaling pathway deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18669862[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18435"	"2021-09-14"
"GENCC_000110-HGNC_4267-Orphanet_314811-HP_0000006-GENCC_100009"	"HGNC:4267"	"GHSR"	"MONDO:0014403"	"short stature due to GHSR deficiency"	"Orphanet:314811"	"Orphanet:314811"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4267"	"GHSR"	"Orphanet:314811"	"Short stature due to GHSR deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18439"	"2021-09-14"
"GENCC_000110-HGNC_9075-Orphanet_79-HP_0000007-GENCC_100009"	"HGNC:9075"	"SERPINF2"	"MONDO:0009883"	"alpha-2-plasmin inhibitor deficiency"	"Orphanet:79"	"Orphanet:79"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9075"	"SERPINF2"	"Orphanet:79"	"Congenital alpha2-antiplasmin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17961166[PMID]_11472338[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18440"	"2021-09-14"
"GENCC_000110-HGNC_1675-Orphanet_169082-HP_0000007-GENCC_100009"	"HGNC:1675"	"CD3G"	"MONDO:0014276"	"combined immunodeficiency due to CD3gamma deficiency"	"Orphanet:169082"	"Orphanet:169082"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1675"	"CD3G"	"Orphanet:169082"	"Combined immunodeficiency due to CD3gamma deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18441"	"2021-09-14"
"GENCC_000110-HGNC_1540-Orphanet_199247-HP_0032113-GENCC_100009"	"HGNC:1540"	"SERPINA6"	"MONDO:0012675"	"corticosteroid-binding globulin deficiency"	"Orphanet:199247"	"Orphanet:199247"	"GENCC:100009"	"Supportive"	"HP:0032113"	"Semidominant"	"GENCC:000110"	"Orphanet"	"HGNC:1540"	"SERPINA6"	"Orphanet:199247"	"Corticosteroid-binding globulin deficiency"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12780753[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18442"	"2021-09-14"
"GENCC_000110-HGNC_25896-Orphanet_3204-HP_0000006-GENCC_100009"	"HGNC:25896"	"ORAI1"	"MONDO:0008497"	"Stormorken syndrome"	"Orphanet:3204"	"Orphanet:3204"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25896"	"ORAI1"	"Orphanet:3204"	"Stormorken-Sjaastad-Langslet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24591628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18443"	"2021-09-14"
"GENCC_000110-HGNC_25896-Orphanet_2593-HP_0000006-GENCC_100009"	"HGNC:25896"	"ORAI1"	"MONDO:0008051"	"tubular aggregate myopathy"	"Orphanet:2593"	"Orphanet:2593"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25896"	"ORAI1"	"Orphanet:2593"	"Tubular aggregate myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24591628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18443"	"2021-09-14"
"GENCC_000110-HGNC_25896-Orphanet_317428-HP_0000007-GENCC_100009"	"HGNC:25896"	"ORAI1"	"MONDO:0013007"	"combined immunodeficiency due to ORAI1 deficiency"	"Orphanet:317428"	"Orphanet:317428"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25896"	"ORAI1"	"Orphanet:317428"	"Combined immunodeficiency due to ORAI1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18443"	"2021-09-14"
"GENCC_000110-HGNC_11386-Orphanet_3204-HP_0000006-GENCC_100009"	"HGNC:11386"	"STIM1"	"MONDO:0008497"	"Stormorken syndrome"	"Orphanet:3204"	"Orphanet:3204"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11386"	"STIM1"	"Orphanet:3204"	"Stormorken-Sjaastad-Langslet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24591628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18444"	"2021-09-14"
"GENCC_000110-HGNC_11386-Orphanet_2593-HP_0000006-GENCC_100009"	"HGNC:11386"	"STIM1"	"MONDO:0008051"	"tubular aggregate myopathy"	"Orphanet:2593"	"Orphanet:2593"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11386"	"STIM1"	"Orphanet:2593"	"Tubular aggregate myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23332920[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18444"	"2021-09-14"
"GENCC_000110-HGNC_11386-Orphanet_317430-HP_0000007-GENCC_100009"	"HGNC:11386"	"STIM1"	"MONDO:0013008"	"combined immunodeficiency due to STIM1 deficiency"	"Orphanet:317430"	"Orphanet:317430"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11386"	"STIM1"	"Orphanet:317430"	"Combined immunodeficiency due to STIM1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18444"	"2021-09-14"
"GENCC_000110-HGNC_16232-Orphanet_199337-HP_0000007-GENCC_100009"	"HGNC:16232"	"COX4I2"	"MONDO:0012992"	"pancreatic insufficiency-anemia-hyperostosis syndrome"	"Orphanet:199337"	"Orphanet:199337"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16232"	"COX4I2"	"Orphanet:199337"	"Pancreatic insufficiency-anemia-hyperostosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18452"	"2021-09-14"
"GENCC_000110-HGNC_939-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:939"	"BAG3"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:939"	"BAG3"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21353195[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18453"	"2021-09-14"
"GENCC_000110-HGNC_939-Orphanet_199340-HP_0000006-GENCC_100009"	"HGNC:939"	"BAG3"	"MONDO:0013061"	"myofibrillar myopathy 6"	"Orphanet:199340"	"Orphanet:199340"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:939"	"BAG3"	"Orphanet:199340"	"Muscular dystrophy, Selcen type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19085932[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18453"	"2021-09-14"
"GENCC_000110-HGNC_21219-Orphanet_307-HP_0000006-GENCC_100009"	"HGNC:21219"	"CILK1"	"MONDO:0009696"	"juvenile myoclonic epilepsy"	"Orphanet:307"	"Orphanet:307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21219"	"CILK1"	"Orphanet:307"	"Juvenile myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29539279[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18454"	"2021-09-14"
"GENCC_000110-HGNC_21219-Orphanet_199332-HP_0000007-GENCC_100009"	"HGNC:21219"	"CILK1"	"MONDO:0012980"	"endocrine-cerebro-osteodysplasia syndrome"	"Orphanet:199332"	"Orphanet:199332"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21219"	"CILK1"	"Orphanet:199332"	"Endocrine-cerebro-osteodysplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19185282[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18454"	"2021-09-14"
"GENCC_000110-HGNC_9004-Orphanet_1275-HP_0000006-GENCC_100009"	"HGNC:9004"	"PITX1"	"MONDO:0008520"	"brachydactyly-elbow wrist dysplasia syndrome"	"Orphanet:1275"	"Orphanet:1275"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9004"	"PITX1"	"Orphanet:1275"	"Brachydactyly-elbow wrist dysplasia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23022097[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18455"	"2021-09-14"
"GENCC_000110-HGNC_33867-Orphanet_3208-HP_0000007-GENCC_100009"	"HGNC:33867"	"SDHAF1"	"MONDO:0009641"	"mitochondrial complex II deficiency"	"Orphanet:3208"	"Orphanet:3208"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33867"	"SDHAF1"	"Orphanet:3208"	"Isolated succinate-CoQ reductase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19465911[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18456"	"2021-09-14"
"GENCC_000110-HGNC_6343-Orphanet_895-HP_0000006-GENCC_100009"	"HGNC:6343"	"KITLG"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"Orphanet:895"	"Orphanet:895"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6343"	"KITLG"	"Orphanet:895"	"Waardenburg syndrome type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26522471[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18457"	"2021-09-14"
"GENCC_000110-HGNC_6343-Orphanet_79146-HP_0000006-GENCC_100009"	"HGNC:6343"	"KITLG"	"MONDO:0013648"	"familial progressive hyperpigmentation"	"Orphanet:79146"	"Orphanet:79146"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6343"	"KITLG"	"Orphanet:79146"	"Familial progressive hyperpigmentation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19375057[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18457"	"2021-09-14"
"GENCC_000110-HGNC_6343-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:6343"	"KITLG"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6343"	"KITLG"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26522471[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18457"	"2021-09-14"
"GENCC_000110-HGNC_6343-Orphanet_280628-HP_0000006-GENCC_100009"	"HGNC:6343"	"KITLG"	"MONDO:0017239"	"familial progressive hyper- and hypopigmentation"	"Orphanet:280628"	"Orphanet:280628"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6343"	"KITLG"	"Orphanet:280628"	"Familial progressive hyper- and hypopigmentation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21368769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18457"	"2021-09-14"
"GENCC_000110-HGNC_216-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:216"	"ADAM9"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:216"	"ADAM9"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19409519[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18458"	"2021-09-14"
"GENCC_000110-HGNC_5456-Orphanet_98771-HP_0000006-GENCC_100009"	"HGNC:5456"	"IFRD1"	"MONDO:0011834"	"spinocerebellar ataxia type 18"	"Orphanet:98771"	"Orphanet:98771"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5456"	"IFRD1"	"Orphanet:98771"	"Spinocerebellar ataxia type 18"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18459"	"2021-09-14"
"GENCC_000110-HGNC_29918-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:29918"	"NDUFAF3"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29918"	"NDUFAF3"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19463981[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18461"	"2021-09-14"
"GENCC_000110-HGNC_29918-Orphanet_70474-HP_0000007-GENCC_100009"	"HGNC:29918"	"NDUFAF3"	"MONDO:0019083"	"Leigh syndrome with cardiomyopathy"	"Orphanet:70474"	"Orphanet:70474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29918"	"NDUFAF3"	"Orphanet:70474"	"Leigh syndrome with cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27986404[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18461"	"2021-09-14"
"GENCC_000110-HGNC_30829-Orphanet_1766-HP_0000007-GENCC_100009"	"HGNC:30829"	"TUBB2B"	"MONDO:0009133"	"cerebellar ataxia, intellectual disability, and dysequilibrium"	"Orphanet:1766"	"Orphanet:1766"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30829"	"TUBB2B"	"Orphanet:1766"	"Dysequilibrium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28013290[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18462"	"2021-09-14"
"GENCC_000110-HGNC_30829-Orphanet_45358-HP_0000006-GENCC_100009"	"HGNC:30829"	"TUBB2B"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"Orphanet:45358"	"Orphanet:45358"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30829"	"TUBB2B"	"Orphanet:45358"	"Congenital fibrosis of extraocular muscles"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23001566[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18462"	"2021-09-14"
"GENCC_000110-HGNC_30829-Orphanet_300573-HP_0000006-GENCC_100009"	"HGNC:30829"	"TUBB2B"	"MONDO:0012399"	"complex cortical dysplasia with other brain malformations 7"	"Orphanet:300573"	"Orphanet:300573"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30829"	"TUBB2B"	"Orphanet:300573"	"Polymicrogyria due to TUBB2B mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19465910[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18462"	"2021-09-14"
"GENCC_000110-HGNC_30829-Orphanet_467166-HP_0000006-GENCC_100009"	"HGNC:30829"	"TUBB2B"	"MONDO:0018763"	"tubulinopathy-associated dysgyria"	"Orphanet:467166"	"Orphanet:467166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30829"	"TUBB2B"	"Orphanet:467166"	"Tubulinopathy-associated dysgyria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26130693[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18462"	"2021-09-14"
"GENCC_000110-HGNC_29092-Orphanet_2616-HP_0000007-GENCC_100009"	"HGNC:29092"	"OBSL1"	"MONDO:0007477"	"3-M syndrome"	"Orphanet:2616"	"Orphanet:2616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29092"	"OBSL1"	"Orphanet:2616"	"3M syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18463"	"2021-09-14"
"GENCC_000110-HGNC_15646-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:15646"	"KLHL7"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15646"	"KLHL7"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18464"	"2021-09-14"
"GENCC_000110-HGNC_15646-Orphanet_157820-HP_0000007-GENCC_100009"	"HGNC:15646"	"KLHL7"	"MONDO:0015526"	"cold-induced sweating syndrome"	"Orphanet:157820"	"Orphanet:157820"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15646"	"KLHL7"	"Orphanet:157820"	"Cold-induced sweating syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27392078[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18464"	"2021-09-14"
"GENCC_000110-HGNC_4454-Orphanet_93329-HP_0000007-GENCC_100009"	"HGNC:4454"	"GPC6"	"MONDO:0009779"	"autosomal recessive omodysplasia"	"Orphanet:93329"	"Orphanet:93329"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4454"	"GPC6"	"Orphanet:93329"	"Autosomal recessive omodysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19481194[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18465"	"2021-09-14"
"GENCC_000110-HGNC_16912-Orphanet_1270-HP_0000007-GENCC_100009"	"HGNC:16912"	"EMG1"	"MONDO:0008879"	"Bowen-Conradi syndrome"	"Orphanet:1270"	"Orphanet:1270"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16912"	"EMG1"	"Orphanet:1270"	"Bowen-Conradi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19463982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18466"	"2021-09-14"
"GENCC_000110-HGNC_21686-Orphanet_85136-HP_0000007-GENCC_100009"	"HGNC:21686"	"RNASET2"	"MONDO:0013058"	"cystic leukoencephalopathy without megalencephaly"	"Orphanet:85136"	"Orphanet:85136"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21686"	"RNASET2"	"Orphanet:85136"	"Cystic leukoencephalopathy without megalencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19525954[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18467"	"2021-09-14"
"GENCC_000110-HGNC_24316-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:24316"	"TACO1"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24316"	"TACO1"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19503089[PMID]_20727754[PMID]_25044680[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18468"	"2021-09-14"
"GENCC_000110-HGNC_15925-Orphanet_51-HP_0000006-GENCC_100009"	"HGNC:15925"	"SAMHD1"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"Orphanet:51"	"Orphanet:51"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15925"	"SAMHD1"	"Orphanet:51"	"Aicardi-GoutiÞres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301648[PMID]_20842748[PMID]_19525956[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18469"	"2021-09-14"
"GENCC_000110-HGNC_15925-Orphanet_481662-HP_0000006-GENCC_100009"	"HGNC:15925"	"SAMHD1"	"MONDO:0018827"	"familial chilblain lupus"	"Orphanet:481662"	"Orphanet:481662"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15925"	"SAMHD1"	"Orphanet:481662"	"Familial Chilblain lupus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27566796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18469"	"2021-09-14"
"GENCC_000110-HGNC_3687-Orphanet_3237-HP_0000006-GENCC_100009"	"HGNC:3687"	"FGF9"	"MONDO:0017923"	"multiple synostoses syndrome"	"Orphanet:3237"	"Orphanet:3237"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3687"	"FGF9"	"Orphanet:3237"	"Multiple synostoses syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19589401[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18470"	"2021-09-14"
"GENCC_000110-HGNC_4893-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:4893"	"HGF"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4893"	"HGF"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18471"	"2021-09-14"
"GENCC_000110-HGNC_9721-Orphanet_2078-HP_0000007-GENCC_100009"	"HGNC:9721"	"PYCR1"	"MONDO:0009271"	"geroderma osteodysplastica"	"Orphanet:2078"	"Orphanet:2078"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9721"	"PYCR1"	"Orphanet:2078"	"Geroderma osteodysplastica"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21204221[PMID]_24035636[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18472"	"2021-09-14"
"GENCC_000110-HGNC_9721-Orphanet_357064-HP_0000007-GENCC_100009"	"HGNC:9721"	"PYCR1"	"MONDO:0013051"	"autosomal recessive cutis laxa type 2B"	"Orphanet:357064"	"Orphanet:357064"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9721"	"PYCR1"	"Orphanet:357064"	"Autosomal recessive cutis laxa type 2B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19576563[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18472"	"2021-09-14"
"GENCC_000110-HGNC_9802-Orphanet_183707-HP_0000005-GENCC_100009"	"HGNC:9802"	"RAC2"	"MONDO:0011988"	"neutrophil immunodeficiency syndrome"	"Orphanet:183707"	"Orphanet:183707"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:9802"	"RAC2"	"Orphanet:183707"	"Neutrophil immunodeficiency syndrome"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10758162[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18485"	"2021-09-14"
"GENCC_000110-HGNC_7662-Orphanet_379-HP_0000007-GENCC_100009"	"HGNC:7662"	"NCF4"	"MONDO:0018305"	"chronic granulomatous disease"	"Orphanet:379"	"Orphanet:379"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7662"	"NCF4"	"Orphanet:379"	"Chronic granulomatous disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22876374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18486"	"2021-09-14"
"GENCC_000110-HGNC_13815-Orphanet_199285-HP_0000006-GENCC_100009"	"HGNC:13815"	"BCO1"	"MONDO:0007272"	"hereditary hypercarotenemia and vitamin A deficiency"	"Orphanet:199285"	"Orphanet:199285"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13815"	"BCO1"	"Orphanet:199285"	"Hereditary hypercarotenemia and vitamin A deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17951468[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18487"	"2021-09-14"
"GENCC_000110-HGNC_7939-Orphanet_1344-HP_0000006-GENCC_100009"	"HGNC:7939"	"NPPA"	"MONDO:0015281"	"atrial standstill"	"Orphanet:1344"	"Orphanet:1344"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7939"	"NPPA"	"Orphanet:1344"	"Atrial standstill"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23275345[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18488"	"2021-09-14"
"GENCC_000110-HGNC_7939-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:7939"	"NPPA"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7939"	"NPPA"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18614783[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18488"	"2021-09-14"
"GENCC_000110-HGNC_4580-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:4580"	"GRIK2"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4580"	"GRIK2"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17847003[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18489"	"2021-09-14"
"GENCC_000110-HGNC_14377-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:14377"	"NHP2"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14377"	"NHP2"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18490"	"2021-09-14"
"GENCC_000110-HGNC_23041-Orphanet_255249-HP_0000007-GENCC_100009"	"HGNC:23041"	"PDSS2"	"MONDO:0016816"	"Leigh syndrome with nephrotic syndrome"	"Orphanet:255249"	"Orphanet:255249"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23041"	"PDSS2"	"Orphanet:255249"	"Leigh syndrome with nephrotic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17186472[PMID]_20301352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18491"	"2021-09-14"
"GENCC_000110-HGNC_10702-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:10702"	"SEC23B"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10702"	"SEC23B"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26522472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18492"	"2021-09-14"
"GENCC_000110-HGNC_10702-Orphanet_98873-HP_0000007-GENCC_100009"	"HGNC:10702"	"SEC23B"	"MONDO:0009134"	"congenital dyserythropoietic anemia type 2"	"Orphanet:98873"	"Orphanet:98873"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10702"	"SEC23B"	"Orphanet:98873"	"Congenital dyserythropoietic anemia type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18492"	"2021-09-14"
"GENCC_000110-HGNC_18791-Orphanet_99886-HP_0000006-GENCC_100009"	"HGNC:18791"	"ZFP57"	"MONDO:0020525"	"transient neonatal diabetes mellitus"	"Orphanet:99886"	"Orphanet:99886"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18791"	"ZFP57"	"Orphanet:99886"	"Transient neonatal diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301706[PMID]_22498247[PMID]_23150280[PMID]_23499433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18552"	"2021-09-14"
"GENCC_000110-HGNC_10998-Orphanet_88621-HP_0000007-GENCC_100009"	"HGNC:10998"	"SLC27A4"	"MONDO:0012089"	"ichthyosis prematurity syndrome"	"Orphanet:88621"	"Orphanet:88621"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10998"	"SLC27A4"	"Orphanet:88621"	"Ichthyosis-prematurity syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19631310[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18599"	"2021-09-14"
"GENCC_000110-HGNC_8787-Orphanet_1871-HP_0000006-GENCC_100009"	"HGNC:8787"	"PDE6C"	"MONDO:0000455"	"cone dystrophy"	"Orphanet:1871"	"Orphanet:1871"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8787"	"PDE6C"	"Orphanet:1871"	"Progressive cone dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19615668[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18600"	"2021-09-14"
"GENCC_000110-HGNC_8787-Orphanet_49382-HP_0000007-GENCC_100009"	"HGNC:8787"	"PDE6C"	"MONDO:0018852"	"achromatopsia"	"Orphanet:49382"	"Orphanet:49382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8787"	"PDE6C"	"Orphanet:49382"	"Achromatopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19615668[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18600"	"2021-09-14"
"GENCC_000110-HGNC_7176-Orphanet_1040-HP_0000006-GENCC_100009"	"HGNC:7176"	"MMP9"	"MONDO:0015177"	"metaphyseal anadysplasia"	"Orphanet:1040"	"Orphanet:1040"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7176"	"MMP9"	"Orphanet:1040"	"Metaphyseal anadysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19615667[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18601"	"2021-09-14"
"GENCC_000110-HGNC_12718-Orphanet_2254-HP_0000007-GENCC_100009"	"HGNC:12718"	"VRK1"	"MONDO:0016396"	"pontocerebellar hypoplasia type 1"	"Orphanet:2254"	"Orphanet:2254"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12718"	"VRK1"	"Orphanet:2254"	"Pontocerebellar hypoplasia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19646678[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18602"	"2021-09-14"
"GENCC_000110-HGNC_12718-Orphanet_423894-HP_0000007-GENCC_100009"	"HGNC:12718"	"VRK1"	"MONDO:0018507"	"microcephaly-complex motor and sensory axonal neuropathy syndrome"	"Orphanet:423894"	"Orphanet:423894"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12718"	"VRK1"	"Orphanet:423894"	"Microcephaly-complex motor and sensory axonal neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24126608[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18602"	"2021-09-14"
"GENCC_000110-HGNC_21474-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:21474"	"INPP5E"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21474"	"INPP5E"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19668216[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18603"	"2021-09-14"
"GENCC_000110-HGNC_21474-Orphanet_1454-HP_0000007-GENCC_100009"	"HGNC:21474"	"INPP5E"	"MONDO:0008996"	"COACH syndrome 1"	"Orphanet:1454"	"Orphanet:1454"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21474"	"INPP5E"	"Orphanet:1454"	"Joubert syndrome with hepatic defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]_19668216[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18603"	"2021-09-14"
"GENCC_000110-HGNC_21474-Orphanet_75858-HP_0000007-GENCC_100009"	"HGNC:21474"	"INPP5E"	"MONDO:0012423"	"MORM syndrome"	"Orphanet:75858"	"Orphanet:75858"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21474"	"INPP5E"	"Orphanet:75858"	"MORM syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19668215[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18603"	"2021-09-14"
"GENCC_000110-HGNC_21474-Orphanet_220493-HP_0000007-GENCC_100009"	"HGNC:21474"	"INPP5E"	"MONDO:0016364"	"Joubert syndrome with ocular defect"	"Orphanet:220493"	"Orphanet:220493"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21474"	"INPP5E"	"Orphanet:220493"	"Joubert syndrome with ocular defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23386033[PMID]_19668216[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18603"	"2021-09-14"
"GENCC_000110-HGNC_17084-Orphanet_98853-HP_0000006-GENCC_100009"	"HGNC:17084"	"SYNE2"	"MONDO:0020336"	"autosomal dominant Emery-Dreifuss muscular dystrophy"	"Orphanet:98853"	"Orphanet:98853"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17084"	"SYNE2"	"Orphanet:98853"	"Autosomal dominant Emery-Dreifuss muscular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18647"	"2021-09-14"
"GENCC_000110-HGNC_26034-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:26034"	"SDHAF2"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26034"	"SDHAF2"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301715[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18648"	"2021-09-14"
"GENCC_000110-HGNC_17098-Orphanet_284343-HP_0000006-GENCC_100009"	"HGNC:17098"	"DICER1"	"MONDO:0017288"	"DICER1 syndrome"	"Orphanet:284343"	"Orphanet:284343"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17098"	"DICER1"	"Orphanet:284343"	"Pleuropulmonary blastoma familial tumor susceptibility syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21266384[PMID]_24761742[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18649"	"2021-09-14"
"GENCC_000110-HGNC_17993-Orphanet_871-HP_0000006-GENCC_100009"	"HGNC:17993"	"TRPM4"	"MONDO:0019490"	"progressive familial heart block"	"Orphanet:871"	"Orphanet:871"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17993"	"TRPM4"	"Orphanet:871"	"Familial progressive cardiac conduction defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19726882[PMID]_20562447[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18650"	"2021-09-14"
"GENCC_000110-HGNC_17993-Orphanet_316-HP_0000006-GENCC_100009"	"HGNC:17993"	"TRPM4"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"Orphanet:316"	"Orphanet:316"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17993"	"TRPM4"	"Orphanet:316"	"Progressive symmetric erythrokeratodermia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30528822[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18650"	"2021-09-14"
"GENCC_000110-HGNC_30892-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:30892"	"HUWE1"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30892"	"HUWE1"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29180823[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18651"	"2021-09-14"
"GENCC_000110-HGNC_18856-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:18856"	"CREB3L1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18856"	"CREB3L1"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24079343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18653"	"2021-09-14"
"GENCC_000110-HGNC_3386-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:3386"	"EPHA2"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3386"	"EPHA2"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24014202[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18658"	"2021-09-14"
"GENCC_000110-HGNC_3386-Orphanet_98993-HP_0000006-GENCC_100009"	"HGNC:3386"	"EPHA2"	"MONDO:0020378"	"early-onset posterior polar cataract"	"Orphanet:98993"	"Orphanet:98993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3386"	"EPHA2"	"Orphanet:98993"	"Early-onset posterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19306328[PMID]_23447127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18658"	"2021-09-14"
"GENCC_000110-HGNC_3386-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:3386"	"EPHA2"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3386"	"EPHA2"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19306328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18658"	"2021-09-14"
"GENCC_000110-HGNC_3386-Orphanet_441447-HP_0000006-GENCC_100009"	"HGNC:3386"	"EPHA2"	"MONDO:0018610"	"early-onset posterior subcapsular cataract"	"Orphanet:441447"	"Orphanet:441447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3386"	"EPHA2"	"Orphanet:441447"	"Early-onset posterior subcapsular cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24014202[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18658"	"2021-09-14"
"GENCC_000110-HGNC_2435-Orphanet_264675-HP_0000007-GENCC_100009"	"HGNC:2435"	"CSF2RA"	"MONDO:0012580"	"hereditary pulmonary alveolar proteinosis"	"Orphanet:264675"	"Orphanet:264675"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2435"	"CSF2RA"	"Orphanet:264675"	"Hereditary pulmonary alveolar proteinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18955570[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18659"	"2021-09-14"
"GENCC_000110-HGNC_4221-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:4221"	"GDF6"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4221"	"GDF6"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23307924[PMID]_25685757[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18660"	"2021-09-14"
"GENCC_000110-HGNC_4221-Orphanet_2345-HP_0000006-GENCC_100009"	"HGNC:4221"	"GDF6"	"MONDO:0016520"	"isolated Klippel-Feil syndrome"	"Orphanet:2345"	"Orphanet:2345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4221"	"GDF6"	"Orphanet:2345"	"Isolated Klippel-Feil syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18425797[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18660"	"2021-09-14"
"GENCC_000110-HGNC_13387-Orphanet_93591-HP_0000007-GENCC_100009"	"HGNC:13387"	"NEK8"	"MONDO:0011190"	"nephronophthisis 2"	"Orphanet:93591"	"Orphanet:93591"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13387"	"NEK8"	"Orphanet:93591"	"Infantile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18199800[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18661"	"2021-09-14"
"GENCC_000110-HGNC_13387-Orphanet_294415-HP_0000007-GENCC_100009"	"HGNC:13387"	"NEK8"	"MONDO:0017417"	"renal-hepatic-pancreatic dysplasia"	"Orphanet:294415"	"Orphanet:294415"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13387"	"NEK8"	"Orphanet:294415"	"Renal-hepatic-pancreatic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23418306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18661"	"2021-09-14"
"GENCC_000110-HGNC_8820-Orphanet_101108-HP_0000006-GENCC_100009"	"HGNC:8820"	"PDYN"	"MONDO:0012449"	"spinocerebellar ataxia type 23"	"Orphanet:101108"	"Orphanet:101108"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8820"	"PDYN"	"Orphanet:101108"	"Spinocerebellar ataxia type 23"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18722"	"2021-09-14"
"GENCC_000110-HGNC_315-Orphanet_101109-HP_0000006-GENCC_100009"	"HGNC:315"	"AFG3L2"	"MONDO:0012450"	"spinocerebellar ataxia type 28"	"Orphanet:101109"	"Orphanet:101109"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:315"	"AFG3L2"	"Orphanet:101109"	"Spinocerebellar ataxia type 28"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18723"	"2021-09-14"
"GENCC_000110-HGNC_315-Orphanet_313772-HP_0000007-GENCC_100009"	"HGNC:315"	"AFG3L2"	"MONDO:0013776"	"spastic ataxia 5"	"Orphanet:313772"	"Orphanet:313772"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:315"	"AFG3L2"	"Orphanet:313772"	"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22022284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18723"	"2021-09-14"
"GENCC_000110-HGNC_2171-Orphanet_210163-HP_0000007-GENCC_100009"	"HGNC:2171"	"CNTN1"	"MONDO:0012929"	"Compton-North congenital myopathy"	"Orphanet:210163"	"Orphanet:210163"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2171"	"CNTN1"	"Orphanet:210163"	"Congenital lethal myopathy, Compton-North type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19026398[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18730"	"2021-09-14"
"GENCC_000110-HGNC_2651-Orphanet_209902-HP_0032113-GENCC_100009"	"HGNC:2651"	"CYP7A1"	"MONDO:0016203"	"hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"	"Orphanet:209902"	"Orphanet:209902"	"GENCC:100009"	"Supportive"	"HP:0032113"	"Semidominant"	"GENCC:000110"	"Orphanet"	"HGNC:2651"	"CYP7A1"	"Orphanet:209902"	"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12093894[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18731"	"2021-09-14"
"GENCC_000110-HGNC_13875-Orphanet_209908-HP_0000006-GENCC_100009"	"HGNC:13875"	"FOXP2"	"MONDO:0011184"	"childhood apraxia of speech"	"Orphanet:209908"	"Orphanet:209908"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13875"	"FOXP2"	"Orphanet:209908"	"Childhood apraxia of speech"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11586359[PMID]_15877281[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18732"	"2021-09-14"
"GENCC_000110-HGNC_10941-Orphanet_209967-HP_0000006-GENCC_100009"	"HGNC:10941"	"SLC1A3"	"MONDO:0012982"	"episodic ataxia type 6"	"Orphanet:209967"	"Orphanet:209967"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10941"	"SLC1A3"	"Orphanet:209967"	"Episodic ataxia type 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19139306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18733"	"2021-09-14"
"GENCC_000110-HGNC_29017-Orphanet_210110-HP_0000007-GENCC_100009"	"HGNC:29017"	"PLEKHM1"	"MONDO:0012679"	"autosomal recessive osteopetrosis 6"	"Orphanet:210110"	"Orphanet:210110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29017"	"PLEKHM1"	"Orphanet:210110"	"Intermediate osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17404618[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18734"	"2021-09-14"
"GENCC_000110-HGNC_6000-Orphanet_210115-HP_0000007-GENCC_100009"	"HGNC:6000"	"IL1RN"	"MONDO:0013021"	"sterile multifocal osteomyelitis with periostitis and pustulosis"	"Orphanet:210115"	"Orphanet:210115"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6000"	"IL1RN"	"Orphanet:210115"	"Sterile multifocal osteomyelitis with periostitis and pustulosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19494218[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18735"	"2021-09-14"
"GENCC_000110-HGNC_3809-Orphanet_210122-HP_0000006-GENCC_100009"	"HGNC:3809"	"FOXF1"	"MONDO:0009934"	"alveolar capillary dysplasia with misalignment of pulmonary veins"	"Orphanet:210122"	"Orphanet:210122"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3809"	"FOXF1"	"Orphanet:210122"	"Congenital alveolar capillary dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19500772[PMID]_23505205[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18736"	"2021-09-14"
"GENCC_000110-HGNC_26444-Orphanet_210128-HP_0000007-GENCC_100009"	"HGNC:26444"	"UROC1"	"MONDO:0010167"	"urocanic aciduria"	"Orphanet:210128"	"Orphanet:210128"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26444"	"UROC1"	"Orphanet:210128"	"Urocanic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19304569[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18737"	"2021-09-14"
"GENCC_000110-HGNC_574-Orphanet_280763-HP_0000007-GENCC_100009"	"HGNC:574"	"AP4M1"	"MONDO:0017241"	"AP4-related intellectual disability and spastic paraplegia"	"Orphanet:280763"	"Orphanet:280763"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:574"	"AP4M1"	"Orphanet:280763"	"Severe intellectual disability and progressive spastic paraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19559397[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18738"	"2021-09-14"
"GENCC_000110-HGNC_24678-Orphanet_210144-HP_0000007-GENCC_100009"	"HGNC:24678"	"FTO"	"MONDO:0013050"	"lethal polymalformative syndrome, Boissel type"	"Orphanet:210144"	"Orphanet:210144"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24678"	"FTO"	"Orphanet:210144"	"Lethal polymalformative syndrome, Boissel type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19559399[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18739"	"2021-09-14"
"GENCC_000110-HGNC_9438-Orphanet_210571-HP_0000007-GENCC_100009"	"HGNC:9438"	"PRKRA"	"MONDO:0012789"	"dystonia 16"	"Orphanet:210571"	"Orphanet:210571"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9438"	"PRKRA"	"Orphanet:210571"	"Dystonia 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18243799[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18740"	"2021-09-14"
"GENCC_000110-HGNC_9255-Orphanet_216804-HP_0000006-GENCC_100009"	"HGNC:9255"	"PPIB"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"Orphanet:216804"	"Orphanet:216804"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9255"	"PPIB"	"Orphanet:216804"	"Osteogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18826"	"2021-09-14"
"GENCC_000110-HGNC_9255-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:9255"	"PPIB"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9255"	"PPIB"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18826"	"2021-09-14"
"GENCC_000110-HGNC_9255-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:9255"	"PPIB"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9255"	"PPIB"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21282188[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18826"	"2021-09-14"
"GENCC_000110-HGNC_25964-Orphanet_970-HP_0000007-GENCC_100009"	"HGNC:25964"	"RETREG1"	"MONDO:0019941"	"hereditary sensory and autonomic neuropathy type 2"	"Orphanet:970"	"Orphanet:970"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25964"	"RETREG1"	"Orphanet:970"	"Hereditary sensory and autonomic neuropathy type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21089229[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18890"	"2021-09-14"
"GENCC_000110-HGNC_19721-Orphanet_1425-HP_0000007-GENCC_100009"	"HGNC:19721"	"CANT1"	"MONDO:0015426"	"Desbuquois dysplasia"	"Orphanet:1425"	"Orphanet:1425"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19721"	"CANT1"	"Orphanet:1425"	"Desbuquois syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22539336[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18891"	"2021-09-14"
"GENCC_000110-HGNC_27424-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:27424"	"RBM20"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:27424"	"RBM20"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19712804[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18892"	"2021-09-14"
"GENCC_000110-HGNC_30539-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:30539"	"DNAAF1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30539"	"DNAAF1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18893"	"2021-09-14"
"GENCC_000110-HGNC_30832-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:30832"	"TRAPPC9"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30832"	"TRAPPC9"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20004765[PMID]_20004763[PMID]_20004765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18894"	"2021-09-14"
"GENCC_000110-HGNC_30832-Orphanet_352530-HP_0000007-GENCC_100009"	"HGNC:30832"	"TRAPPC9"	"MONDO:0018123"	"intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"	"Orphanet:352530"	"Orphanet:352530"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30832"	"TRAPPC9"	"Orphanet:352530"	"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22549410[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18894"	"2021-09-14"
"GENCC_000110-HGNC_20665-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:20665"	"SCN3B"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20665"	"SCN3B"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20558140[PMID]_21051419[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18901"	"2021-09-14"
"GENCC_000110-HGNC_18969-Orphanet_353220-HP_0000006-GENCC_100009"	"HGNC:18969"	"IL31RA"	"MONDO:0007101"	"familial primary localized cutaneous amyloidosis"	"Orphanet:353220"	"Orphanet:353220"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18969"	"IL31RA"	"Orphanet:353220"	"Familial primary localized cutaneous amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19690585[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18918"	"2021-09-14"
"GENCC_000110-HGNC_29426-Orphanet_2136-HP_0000007-GENCC_100009"	"HGNC:29426"	"CCBE1"	"MONDO:0016256"	"Hennekam syndrome"	"Orphanet:2136"	"Orphanet:2136"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29426"	"CCBE1"	"Orphanet:2136"	"Hennekam syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19935664[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18919"	"2021-09-14"
"GENCC_000110-HGNC_15454-Orphanet_2701-HP_0000006-GENCC_100009"	"HGNC:15454"	"SHOC2"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"Orphanet:2701"	"Orphanet:2701"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15454"	"SHOC2"	"Orphanet:2701"	"Noonan syndrome-like disorder with loose anagen hair"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19684605[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18920"	"2021-09-14"
"GENCC_000110-HGNC_23399-Orphanet_2717-HP_0000007-GENCC_100009"	"HGNC:23399"	"FREM1"	"MONDO:0009560"	"oculotrichoanal syndrome"	"Orphanet:2717"	"Orphanet:2717"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23399"	"FREM1"	"Orphanet:2717"	"Oculotrichoanal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301721[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18924"	"2021-09-14"
"GENCC_000110-HGNC_23399-Orphanet_3366-HP_0000006-GENCC_100009"	"HGNC:23399"	"FREM1"	"MONDO:0018065"	"isolated trigonocephaly"	"Orphanet:3366"	"Orphanet:3366"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23399"	"FREM1"	"Orphanet:3366"	"Isolated trigonocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21931569[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18924"	"2021-09-14"
"GENCC_000110-HGNC_23399-Orphanet_93100-HP_0000006-GENCC_100009"	"HGNC:23399"	"FREM1"	"MONDO:0019636"	"renal agenesis, unilateral"	"Orphanet:93100"	"Orphanet:93100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23399"	"FREM1"	"Orphanet:93100"	"Renal agenesis, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24370773[PMID]_20807610[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18924"	"2021-09-14"
"GENCC_000110-HGNC_23399-Orphanet_217266-HP_0000007-GENCC_100009"	"HGNC:23399"	"FREM1"	"MONDO:0012165"	"BNAR syndrome"	"Orphanet:217266"	"Orphanet:217266"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23399"	"FREM1"	"Orphanet:217266"	"BNAR syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19732862[PMID]_23401257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18924"	"2021-09-14"
"GENCC_000110-HGNC_18750-Orphanet_217335-HP_0000007-GENCC_100009"	"HGNC:18750"	"RIN2"	"MONDO:0013115"	"RIN2 syndrome"	"Orphanet:217335"	"Orphanet:217335"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18750"	"RIN2"	"Orphanet:217335"	"RIN2 syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19631308[PMID]_24449201[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18925"	"2021-09-14"
"GENCC_000110-HGNC_3791-Orphanet_217382-HP_0000007-GENCC_100009"	"HGNC:3791"	"FOLR1"	"MONDO:0013110"	"neurodegenerative syndrome due to cerebral folate transport deficiency"	"Orphanet:217382"	"Orphanet:217382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3791"	"FOLR1"	"Orphanet:217382"	"Neurodegenerative syndrome due to cerebral folate transport deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19732866[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18926"	"2021-09-14"
"GENCC_000110-HGNC_19191-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:19191"	"DOCK8"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19191"	"DOCK8"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18060736[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18927"	"2021-09-14"
"GENCC_000110-HGNC_19191-Orphanet_217390-HP_0000007-GENCC_100009"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"Orphanet:217390"	"Orphanet:217390"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19191"	"DOCK8"	"Orphanet:217390"	"Combined immunodeficiency due to DOCK8 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18927"	"2021-09-14"
"GENCC_000110-HGNC_3037-Orphanet_217407-HP_0000007-GENCC_100009"	"HGNC:3037"	"DSC3"	"MONDO:0013136"	"hereditary hypotrichosis with recurrent skin vesicles"	"Orphanet:217407"	"Orphanet:217407"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3037"	"DSC3"	"Orphanet:217407"	"Hereditary hypotrichosis with recurrent skin vesicles"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19765682[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18928"	"2021-09-14"
"GENCC_000110-HGNC_1247-Orphanet_75392-HP_0000006-GENCC_100009"	"HGNC:1247"	"C1S"	"MONDO:0007527"	"Ehlers-Danlos syndrome, periodontitis type"	"Orphanet:75392"	"Orphanet:75392"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1247"	"C1S"	"Orphanet:75392"	"Periodontal Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27745832[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18954"	"2021-09-14"
"GENCC_000110-HGNC_1689-Orphanet_169464-HP_0000007-GENCC_100009"	"HGNC:1689"	"CD59"	"MONDO:0012858"	"primary CD59 deficiency"	"Orphanet:169464"	"Orphanet:169464"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1689"	"CD59"	"Orphanet:169464"	"Primary CD59 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23149847[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18955"	"2021-09-14"
"GENCC_000110-HGNC_1698-Orphanet_33110-HP_0000006-GENCC_100009"	"HGNC:1698"	"CD79A"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"Orphanet:33110"	"Orphanet:33110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1698"	"CD79A"	"Orphanet:33110"	"Autosomal agammaglobulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11920841[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18956"	"2021-09-14"
"GENCC_000110-HGNC_1706-Orphanet_169085-HP_0000007-GENCC_100009"	"HGNC:1706"	"CD8A"	"MONDO:0012161"	"susceptibility to respiratory infections associated with CD8alpha chain mutation"	"Orphanet:169085"	"Orphanet:169085"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1706"	"CD8A"	"Orphanet:169085"	"Susceptibility to respiratory infections associated with CD8alpha chain mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11435463[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18957"	"2021-09-14"
"GENCC_000110-HGNC_5526-Orphanet_183675-HP_0000005-GENCC_100009"	"HGNC:5526"	"IGHG2"	"MONDO:0013576"	"recurrent infections associated with rare immunoglobulin isotypes deficiency"	"Orphanet:183675"	"Orphanet:183675"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:5526"	"IGHG2"	"Orphanet:183675"	"Recurrent infections associated with rare immunoglobulin isotypes deficiency"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9449702[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18959"	"2021-09-14"
"GENCC_000110-HGNC_6638-Orphanet_457265-HP_0000007-GENCC_100009"	"HGNC:6638"	"LMNB2"	"MONDO:0014685"	"progressive myoclonic epilepsy type 9"	"Orphanet:457265"	"Orphanet:457265"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6638"	"LMNB2"	"Orphanet:457265"	"Progressive myoclonic epilepsy type 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25954030[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18960"	"2021-09-14"
"GENCC_000110-HGNC_25018-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:25018"	"TMEM216"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25018"	"TMEM216"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21110233[PMID]_20512146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18961"	"2021-09-14"
"GENCC_000110-HGNC_25018-Orphanet_2318-HP_0000007-GENCC_100009"	"HGNC:25018"	"TMEM216"	"MONDO:0009480"	"Joubert syndrome with oculorenal defect"	"Orphanet:2318"	"Orphanet:2318"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25018"	"TMEM216"	"Orphanet:2318"	"Joubert syndrome with oculorenal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18961"	"2021-09-14"
"GENCC_000110-HGNC_25018-Orphanet_2754-HP_0000007-GENCC_100009"	"HGNC:25018"	"TMEM216"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"Orphanet:2754"	"Orphanet:2754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25018"	"TMEM216"	"Orphanet:2754"	"Orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20615230[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18961"	"2021-09-14"
"GENCC_000110-HGNC_7989-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:7989"	"NRAS"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7989"	"NRAS"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19966803[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18962"	"2021-09-14"
"GENCC_000110-HGNC_30859-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:30859"	"SNRNP200"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30859"	"SNRNP200"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18963"	"2021-09-14"
"GENCC_000110-HGNC_26521-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:26521"	"LOXHD1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26521"	"LOXHD1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18964"	"2021-09-14"
"GENCC_000110-HGNC_9052-Orphanet_220436-HP_0000006-GENCC_100009"	"HGNC:9052"	"PLAU"	"MONDO:0011136"	"Quebec platelet disorder"	"Orphanet:220436"	"Orphanet:220436"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9052"	"PLAU"	"Orphanet:220436"	"Quebec platelet disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20007542[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18967"	"2021-09-14"
"GENCC_000110-HGNC_28018-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:28018"	"NIPAL4"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28018"	"NIPAL4"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22739337[PMID]_20301593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18969"	"2021-09-14"
"GENCC_000110-HGNC_28018-Orphanet_79394-HP_0000007-GENCC_100009"	"HGNC:28018"	"NIPAL4"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"Orphanet:79394"	"Orphanet:79394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28018"	"NIPAL4"	"Orphanet:79394"	"Congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20016120[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18969"	"2021-09-14"
"GENCC_000110-HGNC_25792-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:25792"	"USB1"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25792"	"USB1"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20817924[PMID]_22160078[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18979"	"2021-09-14"
"GENCC_000110-HGNC_25792-Orphanet_221046-HP_0000007-GENCC_100009"	"HGNC:25792"	"USB1"	"MONDO:0011405"	"poikiloderma with neutropenia"	"Orphanet:221046"	"Orphanet:221046"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25792"	"USB1"	"Orphanet:221046"	"Poikiloderma with neutropenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20004881[PMID]_20503306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18979"	"2021-09-14"
"GENCC_000110-HGNC_6717-Orphanet_221145-HP_0000007-GENCC_100009"	"HGNC:6717"	"LTBP4"	"MONDO:0013170"	"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"	"Orphanet:221145"	"Orphanet:221145"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6717"	"LTBP4"	"Orphanet:221145"	"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19836010[PMID]_22829427[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18980"	"2021-09-14"
"GENCC_000110-HGNC_7146-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:7146"	"TRPM1"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7146"	"TRPM1"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19896109[PMID]_19896113[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18981"	"2021-09-14"
"GENCC_000110-HGNC_16391-Orphanet_457088-HP_0000007-GENCC_100009"	"HGNC:16391"	"CARD9"	"MONDO:0008905"	"predisposition to invasive fungal disease due to CARD9 deficiency"	"Orphanet:457088"	"Orphanet:457088"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16391"	"CARD9"	"Orphanet:457088"	"Predisposition to invasive fungal disease due to CARD9 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19864672[PMID]_24131138[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18982"	"2021-09-14"
"GENCC_000110-HGNC_14558-Orphanet_1334-HP_0000006-GENCC_100009"	"HGNC:14558"	"CLEC7A"	"MONDO:0015279"	"chronic mucocutaneous candidiasis"	"Orphanet:1334"	"Orphanet:1334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14558"	"CLEC7A"	"Orphanet:1334"	"Chronic mucocutaneous candidiasis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19864674[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18983"	"2021-09-14"
"GENCC_000110-HGNC_26790-Orphanet_100033-HP_0000007-GENCC_100009"	"HGNC:26790"	"WDR72"	"MONDO:0015048"	"amelogenesis imperfecta type 2"	"Orphanet:100033"	"Orphanet:100033"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26790"	"WDR72"	"Orphanet:100033"	"Hypomaturation amelogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19853237[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18984"	"2021-09-14"
"GENCC_000110-HGNC_29557-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:29557"	"NEXN"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29557"	"NEXN"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19881492[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18986"	"2021-09-14"
"GENCC_000110-HGNC_31673-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:31673"	"GRXCR1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:31673"	"GRXCR1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18987"	"2021-09-14"
"GENCC_000110-HGNC_16499-Orphanet_2379-HP_0001417-GENCC_100009"	"HGNC:16499"	"RAB39B"	"MONDO:0010709"	"early-onset parkinsonism-intellectual disability syndrome"	"Orphanet:2379"	"Orphanet:2379"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:16499"	"RAB39B"	"Orphanet:2379"	"Early-onset parkinsonism-intellectual disability syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25434005[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18988"	"2021-09-14"
"GENCC_000110-HGNC_16499-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:16499"	"RAB39B"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:16499"	"RAB39B"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20159109[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18988"	"2021-09-14"
"GENCC_000110-HGNC_10383-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10383"	"RPS10"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10383"	"RPS10"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18989"	"2021-09-14"
"GENCC_000110-HGNC_10414-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10414"	"RPS26"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10414"	"RPS26"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18990"	"2021-09-14"
"GENCC_000110-HGNC_21641-Orphanet_891-HP_0000006-GENCC_100009"	"HGNC:21641"	"TSPAN12"	"MONDO:0019516"	"exudative vitreoretinopathy"	"Orphanet:891"	"Orphanet:891"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21641"	"TSPAN12"	"Orphanet:891"	"Familial exudative vitreoretinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301326[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18991"	"2021-09-14"
"GENCC_000110-HGNC_29242-Orphanet_137834-HP_0000007-GENCC_100009"	"HGNC:29242"	"SH3PXD2B"	"MONDO:0009579"	"Frank-Ter Haar syndrome"	"Orphanet:137834"	"Orphanet:137834"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29242"	"SH3PXD2B"	"Orphanet:137834"	"Frank-Ter Haar syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20137777[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18992"	"2021-09-14"
"GENCC_000110-HGNC_11100-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:11100"	"SMARCA4"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11100"	"SMARCA4"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23556151[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18993"	"2021-09-14"
"GENCC_000110-HGNC_11100-Orphanet_231108-HP_0000006-GENCC_100009"	"HGNC:11100"	"SMARCA4"	"MONDO:0016473"	"familial rhabdoid tumor"	"Orphanet:231108"	"Orphanet:231108"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11100"	"SMARCA4"	"Orphanet:231108"	"Familial rhabdoid tumor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20137775[PMID]_21566516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18993"	"2021-09-14"
"GENCC_000110-HGNC_20406-Orphanet_402003-HP_0000006-GENCC_100009"	"HGNC:20406"	"KRT6C"	"MONDO:0014327"	"palmoplantar keratoderma, nonepidermolytic, focal or diffuse"	"Orphanet:402003"	"Orphanet:402003"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20406"	"KRT6C"	"Orphanet:402003"	"Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21801157[PMID]_19609311[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18994"	"2021-09-14"
"GENCC_000110-HGNC_12305-Orphanet_93299-HP_0000007-GENCC_100009"	"HGNC:12305"	"TRIP11"	"MONDO:0008701"	"achondrogenesis type IA"	"Orphanet:93299"	"Orphanet:93299"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12305"	"TRIP11"	"Orphanet:93299"	"Achondrogenesis type 1A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20089971[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18995"	"2021-09-14"
"GENCC_000110-HGNC_23791-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:23791"	"INF2"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23791"	"INF2"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20023659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18996"	"2021-09-14"
"GENCC_000110-HGNC_23791-Orphanet_93114-HP_0000006-GENCC_100009"	"HGNC:23791"	"INF2"	"MONDO:0013758"	"Charcot-Marie-Tooth disease dominant intermediate E"	"Orphanet:93114"	"Orphanet:93114"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23791"	"INF2"	"Orphanet:93114"	"Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22187985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18996"	"2021-09-14"
"GENCC_000110-HGNC_2867-Orphanet_246-HP_0000007-GENCC_100009"	"HGNC:2867"	"DHODH"	"MONDO:0009903"	"postaxial acrofacial dysostosis"	"Orphanet:246"	"Orphanet:246"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2867"	"DHODH"	"Orphanet:246"	"Postaxial acrofacial dysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19915526[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18997"	"2021-09-14"
"GENCC_000110-HGNC_14388-Orphanet_98885-HP_0000007-GENCC_100009"	"HGNC:14388"	"GP6"	"MONDO:0013623"	"platelet-type bleeding disorder 11"	"Orphanet:98885"	"Orphanet:98885"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14388"	"GP6"	"Orphanet:98885"	"Bleeding diathesis due to glycoprotein VI deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19549989[PMID]_19552682[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"18999"	"2021-09-14"
"GENCC_000110-HGNC_20772-Orphanet_45358-HP_0000006-GENCC_100009"	"HGNC:20772"	"TUBB3"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"Orphanet:45358"	"Orphanet:45358"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20772"	"TUBB3"	"Orphanet:45358"	"Congenital fibrosis of extraocular muscles"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301522[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19021"	"2021-09-14"
"GENCC_000110-HGNC_20772-Orphanet_300570-HP_0000006-GENCC_100009"	"HGNC:20772"	"TUBB3"	"MONDO:0013541"	"complex cortical dysplasia with other brain malformations 1"	"Orphanet:300570"	"Orphanet:300570"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20772"	"TUBB3"	"Orphanet:300570"	"Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20829227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19021"	"2021-09-14"
"GENCC_000110-HGNC_20772-Orphanet_467166-HP_0000006-GENCC_100009"	"HGNC:20772"	"TUBB3"	"MONDO:0018763"	"tubulinopathy-associated dysgyria"	"Orphanet:467166"	"Orphanet:467166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20772"	"TUBB3"	"Orphanet:467166"	"Tubulinopathy-associated dysgyria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26130693[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19021"	"2021-09-14"
"GENCC_000110-HGNC_8794-Orphanet_189439-HP_0000006-GENCC_100009"	"HGNC:8794"	"PDE8B"	"MONDO:0015999"	"primary pigmented nodular adrenocortical disease"	"Orphanet:189439"	"Orphanet:189439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8794"	"PDE8B"	"Orphanet:189439"	"Primary pigmented nodular adrenocortical disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18431404[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19022"	"2021-09-14"
"GENCC_000110-HGNC_8794-Orphanet_228169-HP_0000006-GENCC_100009"	"HGNC:8794"	"PDE8B"	"MONDO:0000211"	"striatal degeneration, autosomal dominant"	"Orphanet:228169"	"Orphanet:228169"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8794"	"PDE8B"	"Orphanet:228169"	"Autosomal dominant striatal neurodegeneration"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20085714[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19022"	"2021-09-14"
"GENCC_000110-HGNC_11529-Orphanet_144-HP_0000006-GENCC_100009"	"HGNC:11529"	"EPCAM"	"MONDO:0005835"	"Lynch syndrome"	"Orphanet:144"	"Orphanet:144"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11529"	"EPCAM"	"Orphanet:144"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21769135[PMID]_23938213[PMID]_20301390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19023"	"2021-09-14"
"GENCC_000110-HGNC_11529-Orphanet_92050-HP_0000007-GENCC_100009"	"HGNC:11529"	"EPCAM"	"MONDO:0013184"	"congenital diarrhea 5 with tufting enteropathy"	"Orphanet:92050"	"Orphanet:92050"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11529"	"EPCAM"	"Orphanet:92050"	"Congenital tufting enteropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18572020[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19023"	"2021-09-14"
"GENCC_000110-HGNC_11506-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:11506"	"SYP"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11506"	"SYP"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19377476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19024"	"2021-09-14"
"GENCC_000110-HGNC_2020-Orphanet_404-HP_0000006-GENCC_100009"	"HGNC:2020"	"CLCN2"	"MONDO:0011576"	"familial hyperaldosteronism type II"	"Orphanet:404"	"Orphanet:404"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2020"	"CLCN2"	"Orphanet:404"	"Familial hyperaldosteronism type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29403011[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19025"	"2021-09-14"
"GENCC_000110-HGNC_2020-Orphanet_363540-HP_0000007-GENCC_100009"	"HGNC:2020"	"CLCN2"	"MONDO:0014292"	"leukoencephalopathy with mild cerebellar ataxia and white matter edema"	"Orphanet:363540"	"Orphanet:363540"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2020"	"CLCN2"	"Orphanet:363540"	"Leukoencephalopathy with mild cerebellar ataxia and white matter edema"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23707145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19025"	"2021-09-14"
"GENCC_000110-HGNC_24464-Orphanet_2953-HP_0000007-GENCC_100009"	"HGNC:24464"	"CHST14"	"MONDO:0011142"	"Ehlers-Danlos syndrome, musculocontractural type"	"Orphanet:2953"	"Orphanet:2953"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24464"	"CHST14"	"Orphanet:2953"	"Musculocontractural Ehlers-Danlos syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22581468[PMID]_20533528[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19027"	"2021-09-14"
"GENCC_000110-HGNC_1677-Orphanet_169160-HP_0000007-GENCC_100009"	"HGNC:1677"	"CD247"	"MONDO:0015703"	"T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"	"Orphanet:169160"	"Orphanet:169160"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1677"	"CD247"	"Orphanet:169160"	"T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19028"	"2021-09-14"
"GENCC_000110-HGNC_20105-Orphanet_221126-HP_0000007-GENCC_100009"	"HGNC:20105"	"FLVCR2"	"MONDO:0009168"	"Fowler syndrome"	"Orphanet:221126"	"Orphanet:221126"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20105"	"FLVCR2"	"Orphanet:221126"	"Fowler vasculopaty"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20206334[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19038"	"2021-09-14"
"GENCC_000110-HGNC_9607-Orphanet_93387-HP_0000006-GENCC_100009"	"HGNC:9607"	"PTHLH"	"MONDO:0019677"	"brachydactyly type E"	"Orphanet:93387"	"Orphanet:93387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9607"	"PTHLH"	"Orphanet:93387"	"Brachydactyly type E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20170896[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19039"	"2021-09-14"
"GENCC_000110-HGNC_26894-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:26894"	"TPRN"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26894"	"TPRN"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19040"	"2021-09-14"
"GENCC_000110-HGNC_7549-Orphanet_1146-HP_0000006-GENCC_100009"	"HGNC:7549"	"MYBPC1"	"MONDO:0015240"	"digitotalar dysmorphism"	"Orphanet:1146"	"Orphanet:1146"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7549"	"MYBPC1"	"Orphanet:1146"	"Distal arthrogryposis type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20045868[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19041"	"2021-09-14"
"GENCC_000110-HGNC_7549-Orphanet_137783-HP_0000007-GENCC_100009"	"HGNC:7549"	"MYBPC1"	"MONDO:0012656"	"lethal congenital contracture syndrome 3"	"Orphanet:137783"	"Orphanet:137783"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7549"	"MYBPC1"	"Orphanet:137783"	"Lethal congenital contracture syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22610851[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19041"	"2021-09-14"
"GENCC_000110-HGNC_28052-Orphanet_93589-HP_0000007-GENCC_100009"	"HGNC:28052"	"XPNPEP3"	"MONDO:0019742"	"late-onset nephronophthisis"	"Orphanet:93589"	"Orphanet:93589"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28052"	"XPNPEP3"	"Orphanet:93589"	"Late-onset nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20179356[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19043"	"2021-09-14"
"GENCC_000110-HGNC_9688-Orphanet_528-HP_0000007-GENCC_100009"	"HGNC:9688"	"CAVIN1"	"MONDO:0018883"	"Berardinelli-Seip congenital lipodystrophy"	"Orphanet:528"	"Orphanet:528"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9688"	"CAVIN1"	"Orphanet:528"	"Congenital generalized lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20684003[PMID]_27894728[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19044"	"2021-09-14"
"GENCC_000110-HGNC_20347-Orphanet_2697-HP_0000007-GENCC_100009"	"HGNC:20347"	"VIPAS39"	"MONDO:0017123"	"arthrogryposis-renal dysfunction-cholestasis syndrome"	"Orphanet:2697"	"Orphanet:2697"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20347"	"VIPAS39"	"Orphanet:2697"	"Arthrogryposis-renal dysfunction-cholestasis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25239142[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19045"	"2021-09-14"
"GENCC_000110-HGNC_1546-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:1546"	"SERPINH1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1546"	"SERPINH1"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19046"	"2021-09-14"
"GENCC_000110-HGNC_11445-Orphanet_540-HP_0000007-GENCC_100009"	"HGNC:11445"	"STXBP2"	"MONDO:0015541"	"hereditary hemophagocytic lymphohistiocytosis"	"Orphanet:540"	"Orphanet:540"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11445"	"STXBP2"	"Orphanet:540"	"Familial hemophagocytic lymphohistiocytosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11179007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19047"	"2021-09-14"
"GENCC_000110-HGNC_1057-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:1057"	"BLK"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1057"	"BLK"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19667185[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19048"	"2021-09-14"
"GENCC_000110-HGNC_5248-Orphanet_139525-HP_0000006-GENCC_100009"	"HGNC:5248"	"HSPB3"	"MONDO:0015352"	"distal hereditary motor neuropathy type 2"	"Orphanet:139525"	"Orphanet:139525"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5248"	"HSPB3"	"Orphanet:139525"	"Distal hereditary motor neuropathy type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20142617[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19049"	"2021-09-14"
"GENCC_000110-HGNC_11019-Orphanet_3337-HP_0000006-GENCC_100009"	"HGNC:11019"	"SLC34A1"	"MONDO:0007600"	"primary Fanconi syndrome"	"Orphanet:3337"	"Orphanet:3337"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11019"	"SLC34A1"	"Orphanet:3337"	"Primary Fanconi renotubular syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20335586[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19050"	"2021-09-14"
"GENCC_000110-HGNC_11019-Orphanet_244305-HP_0000006-GENCC_100009"	"HGNC:11019"	"SLC34A1"	"MONDO:0016579"	"dominant hypophosphatemia with nephrolithiasis or osteoporosis"	"Orphanet:244305"	"Orphanet:244305"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11019"	"SLC34A1"	"Orphanet:244305"	"Dominant hypophosphatemia with nephrolithiasis or osteoporosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12324554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19050"	"2021-09-14"
"GENCC_000110-HGNC_11019-Orphanet_300547-HP_0000007-GENCC_100009"	"HGNC:11019"	"SLC34A1"	"MONDO:0007749"	"autosomal recessive infantile hypercalcemia"	"Orphanet:300547"	"Orphanet:300547"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11019"	"SLC34A1"	"Orphanet:300547"	"Autosomal recessive infantile hypercalcemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26047794[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19050"	"2021-09-14"
"GENCC_000110-HGNC_9679-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:9679"	"PTPRQ"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9679"	"PTPRQ"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29309402[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19051"	"2021-09-14"
"GENCC_000110-HGNC_9679-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:9679"	"PTPRQ"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9679"	"PTPRQ"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19051"	"2021-09-14"
"GENCC_000110-HGNC_12565-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:12565"	"UNC119"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12565"	"UNC119"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11006213[PMID]_26992781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19052"	"2021-09-14"
"GENCC_000110-HGNC_9820-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:9820"	"RAD51C"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9820"	"RAD51C"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19136"	"2021-09-14"
"GENCC_000110-HGNC_9820-Orphanet_145-HP_0000006-GENCC_100009"	"HGNC:9820"	"RAD51C"	"MONDO:0003582"	"hereditary breast ovarian cancer syndrome"	"Orphanet:145"	"Orphanet:145"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9820"	"RAD51C"	"Orphanet:145"	"Hereditary breast and ovarian cancer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20400964[PMID]_21990120[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19136"	"2021-09-14"
"GENCC_000110-HGNC_9154-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:9154"	"PNKP"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9154"	"PNKP"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20118933[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19137"	"2021-09-14"
"GENCC_000110-HGNC_9154-Orphanet_101101-HP_0000007-GENCC_100009"	"HGNC:9154"	"PNKP"	"MONDO:0011570"	"Charcot-Marie-Tooth disease type 2B2"	"Orphanet:101101"	"Orphanet:101101"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9154"	"PNKP"	"Orphanet:101101"	"Charcot-Marie-Tooth disease type 2B2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30039206[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19137"	"2021-09-14"
"GENCC_000110-HGNC_9154-Orphanet_459033-HP_0000007-GENCC_100009"	"HGNC:9154"	"PNKP"	"MONDO:0014557"	"ataxia - oculomotor apraxia type 4"	"Orphanet:459033"	"Orphanet:459033"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9154"	"PNKP"	"Orphanet:459033"	"Ataxia-oculomotor apraxia type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25728773[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19137"	"2021-09-14"
"GENCC_000110-HGNC_28929-Orphanet_170-HP_0000006-GENCC_100009"	"HGNC:28929"	"KRT74"	"MONDO:0008686"	"isolated familial wooly hair disorder"	"Orphanet:170"	"Orphanet:170"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28929"	"KRT74"	"Orphanet:170"	"Woolly hair"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20346438[PMID]_21188418[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19138"	"2021-09-14"
"GENCC_000110-HGNC_28929-Orphanet_69084-HP_0000006-GENCC_100009"	"HGNC:28929"	"KRT74"	"MONDO:0019071"	"pure hair and nail ectodermal dysplasia"	"Orphanet:69084"	"Orphanet:69084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28929"	"KRT74"	"Orphanet:69084"	"Pure hair and nail ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24714551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19138"	"2021-09-14"
"GENCC_000110-HGNC_28929-Orphanet_90368-HP_0000006-GENCC_100009"	"HGNC:28929"	"KRT74"	"MONDO:0019575"	"hypotrichosis simplex of the scalp"	"Orphanet:90368"	"Orphanet:90368"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28929"	"KRT74"	"Orphanet:90368"	"Hypotrichosis simplex of the scalp"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21188418[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19138"	"2021-09-14"
"GENCC_000110-HGNC_15718-Orphanet_55654-HP_0000006-GENCC_100009"	"HGNC:15718"	"APCDD1"	"MONDO:0018914"	"hypotrichosis simplex"	"Orphanet:55654"	"Orphanet:55654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15718"	"APCDD1"	"Orphanet:55654"	"Hypotrichosis simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20393562[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19139"	"2021-09-14"
"GENCC_000110-HGNC_12784-Orphanet_3107-HP_0000006-GENCC_100009"	"HGNC:12784"	"WNT5A"	"MONDO:0008389"	"autosomal dominant Robinow syndrome"	"Orphanet:3107"	"Orphanet:3107"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12784"	"WNT5A"	"Orphanet:3107"	"Autosomal dominant Robinow syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19918918[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19181"	"2021-09-14"
"GENCC_000110-HGNC_15573-Orphanet_798-HP_0000006-GENCC_100009"	"HGNC:15573"	"SETBP1"	"MONDO:0010010"	"Schinzel-Giedion syndrome"	"Orphanet:798"	"Orphanet:798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15573"	"SETBP1"	"Orphanet:798"	"Schinzel-Giedion syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20436468[PMID]_21371013[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19183"	"2021-09-14"
"GENCC_000110-HGNC_15573-Orphanet_436151-HP_0000006-GENCC_100009"	"HGNC:15573"	"SETBP1"	"MONDO:0018574"	"intellectual disability-expressive aphasia-facial dysmorphism syndrome"	"Orphanet:436151"	"Orphanet:436151"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15573"	"SETBP1"	"Orphanet:436151"	"Intellectual disability-expressive aphasia-facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25217958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19183"	"2021-09-14"
"GENCC_000110-HGNC_3815-Orphanet_705-HP_0000007-GENCC_100009"	"HGNC:3815"	"FOXI1"	"MONDO:0010134"	"Pendred syndrome"	"Orphanet:705"	"Orphanet:705"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3815"	"FOXI1"	"Orphanet:705"	"Pendred syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301640[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19188"	"2021-09-14"
"GENCC_000110-HGNC_3815-Orphanet_402041-HP_0000007-GENCC_100009"	"HGNC:3815"	"FOXI1"	"MONDO:0018440"	"autosomal recessive distal renal tubular acidosis"	"Orphanet:402041"	"Orphanet:402041"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3815"	"FOXI1"	"Orphanet:402041"	"Autosomal recessive distal renal tubular acidosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29242249[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19188"	"2021-09-14"
"GENCC_000110-HGNC_17755-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:17755"	"TNFRSF13C"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17755"	"TNFRSF13C"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19194"	"2021-09-14"
"GENCC_000110-HGNC_8957-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:8957"	"PIGA"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8957"	"PIGA"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24357517[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19197"	"2021-09-14"
"GENCC_000110-HGNC_8957-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:8957"	"PIGA"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8957"	"PIGA"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31618474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19197"	"2021-09-14"
"GENCC_000110-HGNC_8957-Orphanet_300496-HP_0001417-GENCC_100009"	"HGNC:8957"	"PIGA"	"MONDO:0010466"	"multiple congenital anomalies-hypotonia-seizures syndrome 2"	"Orphanet:300496"	"Orphanet:300496"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8957"	"PIGA"	"Orphanet:300496"	"Multiple congenital anomalies-hypotonia-seizures syndrome type 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19197"	"2021-09-14"
"GENCC_000110-HGNC_8957-Orphanet_397922-HP_0001417-GENCC_100009"	"HGNC:8957"	"PIGA"	"MONDO:0018346"	"ferro-cerebro-cutaneous syndrome"	"Orphanet:397922"	"Orphanet:397922"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8957"	"PIGA"	"Orphanet:397922"	"Ferro-cerebro-cutaneous syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24259288[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19197"	"2021-09-14"
"GENCC_000110-HGNC_2671-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:2671"	"DAO"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2671"	"DAO"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085347[PMID]_20368421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19204"	"2021-09-14"
"GENCC_000110-HGNC_25382-Orphanet_227976-HP_0000007-GENCC_100009"	"HGNC:25382"	"TMEM126A"	"MONDO:0013069"	"autosomal recessive optic atrophy, OPA7 type"	"Orphanet:227976"	"Orphanet:227976"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25382"	"TMEM126A"	"Orphanet:227976"	"Autosomal recessive optic atrophy, OPA7 type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19327736[PMID]_22815638[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19218"	"2021-09-14"
"GENCC_000110-HGNC_3010-Orphanet_2514-HP_0000006-GENCC_100009"	"HGNC:3010"	"DPP6"	"MONDO:0007988"	"autosomal dominant primary microcephaly"	"Orphanet:2514"	"Orphanet:2514"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3010"	"DPP6"	"Orphanet:2514"	"Autosomal dominant primary microcephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23832105[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19219"	"2021-09-14"
"GENCC_000110-HGNC_3010-Orphanet_228140-HP_0000006-GENCC_100009"	"HGNC:3010"	"DPP6"	"MONDO:0100234"	"paroxysmal familial ventricular fibrillation"	"Orphanet:228140"	"Orphanet:228140"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3010"	"DPP6"	"Orphanet:228140"	"Idiopathic ventricular fibrillation, non Brugada type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19285295[PMID]_21512816[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19219"	"2021-09-14"
"GENCC_000110-HGNC_20-Orphanet_228174-HP_0000006-GENCC_100009"	"HGNC:20"	"AARS1"	"MONDO:0013212"	"Charcot-Marie-Tooth disease axonal type 2N"	"Orphanet:228174"	"Orphanet:228174"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20"	"AARS1"	"Orphanet:228174"	"Autosomal dominant Charcot-Marie-Tooth disease type 2N"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19220"	"2021-09-14"
"GENCC_000110-HGNC_20-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:20"	"AARS1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20"	"AARS1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25817015[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19220"	"2021-09-14"
"GENCC_000110-HGNC_951-Orphanet_228387-HP_0000007-GENCC_100009"	"HGNC:951"	"NKX3-2"	"MONDO:0013228"	"spondylo-megaepiphyseal-metaphyseal dysplasia"	"Orphanet:228387"	"Orphanet:228387"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:951"	"NKX3-2"	"Orphanet:228387"	"Spondylo-megaepiphyseal-metaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20004766[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19221"	"2021-09-14"
"GENCC_000110-HGNC_18188-Orphanet_1394-HP_0000007-GENCC_100009"	"HGNC:18188"	"TMCO1"	"MONDO:0008952"	"cerebrofaciothoracic dysplasia"	"Orphanet:1394"	"Orphanet:1394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18188"	"TMCO1"	"Orphanet:1394"	"Cerebrofaciothoracic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24194475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19222"	"2021-09-14"
"GENCC_000110-HGNC_13890-Orphanet_228426-HP_0000007-GENCC_100009"	"HGNC:13890"	"ITCH"	"MONDO:0013245"	"syndromic multisystem autoimmune disease due to ITCH deficiency"	"Orphanet:228426"	"Orphanet:228426"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13890"	"ITCH"	"Orphanet:228426"	"Syndromic multisystem autoimmune disease due to Itch deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20170897[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19224"	"2021-09-14"
"GENCC_000110-HGNC_29059-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:29059"	"IQSEC2"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:29059"	"IQSEC2"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20473311[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19225"	"2021-09-14"
"GENCC_000110-HGNC_29059-Orphanet_397933-HP_0001417-GENCC_100009"	"HGNC:29059"	"IQSEC2"	"MONDO:0018347"	"severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome"	"Orphanet:397933"	"Orphanet:397933"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:29059"	"IQSEC2"	"Orphanet:397933"	"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23674175[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19225"	"2021-09-14"
"GENCC_000110-HGNC_34383-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:34383"	"PCARE"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:34383"	"PCARE"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19227"	"2021-09-14"
"GENCC_000110-HGNC_8950-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:8950"	"SERPINB6"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8950"	"SERPINB6"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19228"	"2021-09-14"
"GENCC_000110-HGNC_6696-Orphanet_3152-HP_0000007-GENCC_100009"	"HGNC:6696"	"LRP4"	"MONDO:0017838"	"sclerosteosis"	"Orphanet:3152"	"Orphanet:3152"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6696"	"LRP4"	"Orphanet:3152"	"Sclerosteosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21471202[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19230"	"2021-09-14"
"GENCC_000110-HGNC_6696-Orphanet_3258-HP_0000007-GENCC_100009"	"HGNC:6696"	"LRP4"	"MONDO:0008931"	"Cenani-Lenz syndactyly syndrome"	"Orphanet:3258"	"Orphanet:3258"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6696"	"LRP4"	"Orphanet:3258"	"Cenani-Lenz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20381006[PMID]_23636941[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19230"	"2021-09-14"
"GENCC_000110-HGNC_6696-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:6696"	"LRP4"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6696"	"LRP4"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24234652[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19230"	"2021-09-14"
"GENCC_000110-HGNC_18169-Orphanet_2771-HP_0000007-GENCC_100009"	"HGNC:18169"	"FKBP10"	"MONDO:0017195"	"Bruck syndrome"	"Orphanet:2771"	"Orphanet:2771"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18169"	"FKBP10"	"Orphanet:2771"	"Bruck syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22085994[PMID]_22949511[PMID]_22689593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19231"	"2021-09-14"
"GENCC_000110-HGNC_18169-Orphanet_1149-HP_0000007-GENCC_100009"	"HGNC:18169"	"FKBP10"	"MONDO:0015241"	"arthrogryposis-like syndrome"	"Orphanet:1149"	"Orphanet:1149"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18169"	"FKBP10"	"Orphanet:1149"	"Kuskokwim syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23712425[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19231"	"2021-09-14"
"GENCC_000110-HGNC_18169-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:18169"	"FKBP10"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18169"	"FKBP10"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_25046257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19231"	"2021-09-14"
"GENCC_000110-HGNC_18169-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:18169"	"FKBP10"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18169"	"FKBP10"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]_25046257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19231"	"2021-09-14"
"GENCC_000110-HGNC_12692-Orphanet_98984-HP_0000006-GENCC_100009"	"HGNC:12692"	"VIM"	"MONDO:0011430"	"pulverulent cataract"	"Orphanet:98984"	"Orphanet:98984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12692"	"VIM"	"Orphanet:98984"	"Pulverulent cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19126778[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19232"	"2021-09-14"
"GENCC_000110-HGNC_329-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:329"	"AGRN"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:329"	"AGRN"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22205389[PMID]_19631309[PMID]_20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19233"	"2021-09-14"
"GENCC_000110-HGNC_329-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:329"	"AGRN"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:329"	"AGRN"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22205389[PMID]_19631309[PMID]_20301347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19233"	"2021-09-14"
"GENCC_000110-HGNC_4831-Orphanet_46532-HP_0000006-GENCC_100009"	"HGNC:4831"	"HBG1"	"MONDO:0018749"	"hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	"Orphanet:46532"	"Orphanet:46532"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4831"	"HBG1"	"Orphanet:46532"	"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"6210198[PMID]_24144231[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19236"	"2021-09-14"
"GENCC_000110-HGNC_4831-Orphanet_231237-HP_0000007-GENCC_100009"	"HGNC:4831"	"HBG1"	"MONDO:0016489"	"delta-beta-thalassemia"	"Orphanet:231237"	"Orphanet:231237"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4831"	"HBG1"	"Orphanet:231237"	"Delta-beta-thalassemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18932066[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19236"	"2021-09-14"
"GENCC_000110-HGNC_4831-Orphanet_251380-HP_0000007-GENCC_100009"	"HGNC:4831"	"HBG1"	"MONDO:0016672"	"hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	"Orphanet:251380"	"Orphanet:251380"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4831"	"HBG1"	"Orphanet:251380"	"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8598197[PMID]_2468996[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19236"	"2021-09-14"
"GENCC_000110-HGNC_4832-Orphanet_46532-HP_0000006-GENCC_100009"	"HGNC:4832"	"HBG2"	"MONDO:0018749"	"hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	"Orphanet:46532"	"Orphanet:46532"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4832"	"HBG2"	"Orphanet:46532"	"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19050890[PMID]_24144231[PMID]_25435729[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19237"	"2021-09-14"
"GENCC_000110-HGNC_4832-Orphanet_251380-HP_0000007-GENCC_100009"	"HGNC:4832"	"HBG2"	"MONDO:0016672"	"hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	"Orphanet:251380"	"Orphanet:251380"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4832"	"HBG2"	"Orphanet:251380"	"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"8598197[PMID]_2468996[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19237"	"2021-09-14"
"GENCC_000110-HGNC_4832-Orphanet_280615-HP_0000006-GENCC_100009"	"HGNC:4832"	"HBG2"	"MONDO:0017238"	"hemoglobinopathy Toms River"	"Orphanet:280615"	"Orphanet:280615"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4832"	"HBG2"	"Orphanet:280615"	"Hemoglobinopathy Toms River"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21561349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19237"	"2021-09-14"
"GENCC_000110-HGNC_6266-Orphanet_37553-HP_0000006-GENCC_100009"	"HGNC:6266"	"KCNJ5"	"MONDO:0008222"	"Andersen-Tawil syndrome"	"Orphanet:37553"	"Orphanet:37553"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6266"	"KCNJ5"	"Orphanet:37553"	"Andersen-Tawil syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24574546[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19239"	"2021-09-14"
"GENCC_000110-HGNC_6266-Orphanet_251274-HP_0000006-GENCC_100009"	"HGNC:6266"	"KCNJ5"	"MONDO:0013359"	"familial hyperaldosteronism type III"	"Orphanet:251274"	"Orphanet:251274"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6266"	"KCNJ5"	"Orphanet:251274"	"Familial hyperaldosteronism type III"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24817817[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19239"	"2021-09-14"
"GENCC_000110-HGNC_11273-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:11273"	"SPTAN1"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11273"	"SPTAN1"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22196487[PMID]_18065176[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19240"	"2021-09-14"
"GENCC_000110-HGNC_18374-Orphanet_2704-HP_0000007-GENCC_100009"	"HGNC:18374"	"HPSE2"	"MONDO:0000463"	"Ochoa syndrome"	"Orphanet:2704"	"Orphanet:2704"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18374"	"HPSE2"	"Orphanet:2704"	"Ochoa syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23967498[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19241"	"2021-09-14"
"GENCC_000110-HGNC_7315-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:7315"	"MS4A1"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7315"	"MS4A1"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20038800[PMID]_21970952[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19242"	"2021-09-14"
"GENCC_000110-HGNC_1701-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:1701"	"CD81"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1701"	"CD81"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21970952[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19243"	"2021-09-14"
"GENCC_000110-HGNC_2417-Orphanet_98985-HP_0000006-GENCC_100009"	"HGNC:2417"	"CRYGS"	"MONDO:0020372"	"early-onset sutural cataract"	"Orphanet:98985"	"Orphanet:98985"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2417"	"CRYGS"	"Orphanet:98985"	"Early-onset sutural cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18587492[PMID]_16141006[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19244"	"2021-09-14"
"GENCC_000110-HGNC_2417-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:2417"	"CRYGS"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2417"	"CRYGS"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18587492[PMID]_16141006[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19244"	"2021-09-14"
"GENCC_000110-HGNC_13556-Orphanet_1515-HP_0000007-GENCC_100009"	"HGNC:13556"	"IFT122"	"MONDO:0009032"	"cranioectodermal dysplasia"	"Orphanet:1515"	"Orphanet:1515"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13556"	"IFT122"	"Orphanet:1515"	"Cranioectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791528[PMID]_24027799[PMID]_21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19245"	"2021-09-14"
"GENCC_000110-HGNC_17321-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:17321"	"SP7"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17321"	"SP7"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19253"	"2021-09-14"
"GENCC_000110-HGNC_14258-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:14258"	"CD2AP"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14258"	"CD2AP"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17713465[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19254"	"2021-09-14"
"GENCC_000110-HGNC_1699-Orphanet_33110-HP_0000006-GENCC_100009"	"HGNC:1699"	"CD79B"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"Orphanet:33110"	"Orphanet:33110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1699"	"CD79B"	"Orphanet:33110"	"Autosomal agammaglobulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17709424[PMID]_17675462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19255"	"2021-09-14"
"GENCC_000110-HGNC_14211-Orphanet_33110-HP_0000006-GENCC_100009"	"HGNC:14211"	"BLNK"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"Orphanet:33110"	"Orphanet:33110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14211"	"BLNK"	"Orphanet:33110"	"Autosomal agammaglobulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10583958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19256"	"2021-09-14"
"GENCC_000110-HGNC_23639-Orphanet_84064-HP_0000007-GENCC_100009"	"HGNC:23639"	"SKIC3"	"MONDO:0009105"	"trichohepatoenteric syndrome"	"Orphanet:84064"	"Orphanet:84064"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23639"	"TTC37"	"Orphanet:84064"	"Syndromic diarrhea"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23302111[PMID]_20176027[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19274"	"2021-09-14"
"GENCC_000110-HGNC_8789-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:8789"	"PDE6G"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8789"	"PDE6G"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19310"	"2021-09-14"
"GENCC_000110-HGNC_18362-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:18362"	"IMPG2"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18362"	"IMPG2"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19311"	"2021-09-14"
"GENCC_000110-HGNC_18362-Orphanet_99000-HP_0000006-GENCC_100009"	"HGNC:18362"	"IMPG2"	"MONDO:0011979"	"adult-onset foveomacular vitelliform dystrophy"	"Orphanet:99000"	"Orphanet:99000"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18362"	"IMPG2"	"Orphanet:99000"	"Adult-onset foveomacular vitelliform dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25085631[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19311"	"2021-09-14"
"GENCC_000110-HGNC_7133-Orphanet_2322-HP_0000006-GENCC_100009"	"HGNC:7133"	"KMT2D"	"MONDO:0016512"	"Kabuki syndrome"	"Orphanet:2322"	"Orphanet:2322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7133"	"KMT2D"	"Orphanet:2322"	"Kabuki syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21882399[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19312"	"2021-09-14"
"GENCC_000110-HGNC_20670-Orphanet_920-HP_0000006-GENCC_100009"	"HGNC:20670"	"TWIST2"	"MONDO:0008693"	"ablepharon macrostomia syndrome"	"Orphanet:920"	"Orphanet:920"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20670"	"TWIST2"	"Orphanet:920"	"Ablepharon macrostomia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26119818[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19313"	"2021-09-14"
"GENCC_000110-HGNC_20670-Orphanet_1231-HP_0000006-GENCC_100009"	"HGNC:20670"	"TWIST2"	"MONDO:0008853"	"Barber-Say syndrome"	"Orphanet:1231"	"Orphanet:1231"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20670"	"TWIST2"	"Orphanet:1231"	"Barber-Say syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26119818[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19313"	"2021-09-14"
"GENCC_000110-HGNC_20670-Orphanet_1807-HP_0000006-GENCC_100009"	"HGNC:20670"	"TWIST2"	"MONDO:0009203"	"focal facial dermal dysplasia type III"	"Orphanet:1807"	"Orphanet:1807"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20670"	"TWIST2"	"Orphanet:1807"	"Focal facial dermal dysplasia type III"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19313"	"2021-09-14"
"GENCC_000110-HGNC_17103-Orphanet_55595-HP_0000006-GENCC_100009"	"HGNC:17103"	"TNPO3"	"MONDO:0012034"	"autosomal dominant limb-girdle muscular dystrophy type 1F"	"Orphanet:55595"	"Orphanet:55595"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17103"	"TNPO3"	"Orphanet:55595"	"TNP03-related limb-girdle muscular dystrophy D2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23543484[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19317"	"2021-09-14"
"GENCC_000110-HGNC_7788-Orphanet_561-HP_0000006-GENCC_100009"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"Orphanet:561"	"Orphanet:561"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7788"	"NFIX"	"Orphanet:561"	"Marshall-Smith syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20673863[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19319"	"2021-09-14"
"GENCC_000110-HGNC_7788-Orphanet_420179-HP_0000006-GENCC_100009"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan overgrowth syndrome"	"Orphanet:420179"	"Orphanet:420179"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7788"	"NFIX"	"Orphanet:420179"	"Malan overgrowth syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20673863[PMID]_22301465[PMID]_25118028[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19319"	"2021-09-14"
"GENCC_000110-HGNC_9204-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:9204"	"PON1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9204"	"PON1"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20582942[PMID]_23941283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19320"	"2021-09-14"
"GENCC_000110-HGNC_9205-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:9205"	"PON2"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9205"	"PON2"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20582942[PMID]_23941283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19321"	"2021-09-14"
"GENCC_000110-HGNC_9206-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:9206"	"PON3"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9206"	"PON3"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20582942[PMID]_23941283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19322"	"2021-09-14"
"GENCC_000110-HGNC_29203-Orphanet_79500-HP_0000007-GENCC_100009"	"HGNC:29203"	"TBC1D24"	"MONDO:0009079"	"DOORS syndrome"	"Orphanet:79500"	"Orphanet:79500"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29203"	"TBC1D24"	"Orphanet:79500"	"DOORS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24291220[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19324"	"2021-09-14"
"GENCC_000110-HGNC_29203-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:29203"	"TBC1D24"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29203"	"TBC1D24"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24729547[PMID]_24729539[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19324"	"2021-09-14"
"GENCC_000110-HGNC_29203-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:29203"	"TBC1D24"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29203"	"TBC1D24"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24387994[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19324"	"2021-09-14"
"GENCC_000110-HGNC_29203-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:29203"	"TBC1D24"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29203"	"TBC1D24"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23526554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19324"	"2021-09-14"
"GENCC_000110-HGNC_29203-Orphanet_352582-HP_0000007-GENCC_100009"	"HGNC:29203"	"TBC1D24"	"MONDO:0011506"	"familial infantile myoclonic epilepsy"	"Orphanet:352582"	"Orphanet:352582"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29203"	"TBC1D24"	"Orphanet:352582"	"Familial infantile myoclonic epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20727515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19324"	"2021-09-14"
"GENCC_000110-HGNC_29203-Orphanet_352587-HP_0000007-GENCC_100009"	"HGNC:29203"	"TBC1D24"	"MONDO:0018125"	"focal epilepsy-intellectual disability-cerebro-cerebellar malformation"	"Orphanet:352587"	"Orphanet:352587"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29203"	"TBC1D24"	"Orphanet:352587"	"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23517570[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19324"	"2021-09-14"
"GENCC_000110-HGNC_29203-Orphanet_352596-HP_0000007-GENCC_100009"	"HGNC:29203"	"TBC1D24"	"MONDO:0018126"	"progressive myoclonic epilepsy with dystonia"	"Orphanet:352596"	"Orphanet:352596"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29203"	"TBC1D24"	"Orphanet:352596"	"Progressive myoclonic epilepsy with dystonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21087195[PMID]_23343562[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19324"	"2021-09-14"
"GENCC_000110-HGNC_24502-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:24502"	"WDR62"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24502"	"WDR62"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19325"	"2021-09-14"
"GENCC_000110-HGNC_29250-Orphanet_1515-HP_0000007-GENCC_100009"	"HGNC:29250"	"WDR35"	"MONDO:0009032"	"cranioectodermal dysplasia"	"Orphanet:1515"	"Orphanet:1515"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29250"	"WDR35"	"Orphanet:1515"	"Cranioectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791528[PMID]_24027799[PMID]_21438135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19326"	"2021-09-14"
"GENCC_000110-HGNC_29250-Orphanet_93271-HP_0000007-GENCC_100009"	"HGNC:29250"	"WDR35"	"MONDO:0019664"	"short rib-polydactyly syndrome, Verma-Naumoff type"	"Orphanet:93271"	"Orphanet:93271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29250"	"WDR35"	"Orphanet:93271"	"Short rib-polydactyly syndrome, Verma-Naumoff type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21473986[PMID]_22791528[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19326"	"2021-09-14"
"GENCC_000110-HGNC_29250-Orphanet_498497-HP_0000007-GENCC_100009"	"HGNC:29250"	"WDR35"	"MONDO:0013569"	"short-rib thoracic dysplasia 7 with or without polydactyly"	"Orphanet:498497"	"Orphanet:498497"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29250"	"WDR35"	"Orphanet:498497"	"Short rib-polydactyly syndrome type 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17935248[PMID]_21473986[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19326"	"2021-09-14"
"GENCC_000110-HGNC_8104-Orphanet_1229-HP_0000007-GENCC_100009"	"HGNC:8104"	"OCLN"	"MONDO:0009626"	"pseudo-TORCH syndrome"	"Orphanet:1229"	"Orphanet:1229"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8104"	"OCLN"	"Orphanet:1229"	"Congenital intrauterine infection-like syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20727516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19327"	"2021-09-14"
"GENCC_000110-HGNC_25808-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:25808"	"FAM161A"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25808"	"FAM161A"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19328"	"2021-09-14"
"GENCC_000110-HGNC_26498-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:26498"	"ZNF513"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26498"	"ZNF513"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19329"	"2021-09-14"
"GENCC_000110-HGNC_15868-Orphanet_171848-HP_0000007-GENCC_100009"	"HGNC:15868"	"ABHD12"	"MONDO:0012984"	"PHARC syndrome"	"Orphanet:171848"	"Orphanet:171848"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15868"	"ABHD12"	"Orphanet:171848"	"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20797687[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19330"	"2021-09-14"
"GENCC_000110-HGNC_29501-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:29501"	"GPSM2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29501"	"GPSM2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19338"	"2021-09-14"
"GENCC_000110-HGNC_29501-Orphanet_314597-HP_0000007-GENCC_100009"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"Orphanet:314597"	"Orphanet:314597"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29501"	"GPSM2"	"Orphanet:314597"	"Chudley-McCullough syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22578326[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19338"	"2021-09-14"
"GENCC_000110-HGNC_24249-Orphanet_2598-HP_0000007-GENCC_100009"	"HGNC:24249"	"YARS2"	"MONDO:0000863"	"myopathy, lactic acidosis, and sideroblastic anemia"	"Orphanet:2598"	"Orphanet:2598"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24249"	"YARS2"	"Orphanet:2598"	"Mitochondrial myopathy and sideroblastic anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20598274[PMID]_22504945[PMID]_24344687[PMID]_24430573[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19339"	"2021-09-14"
"GENCC_000110-HGNC_6345-Orphanet_46532-HP_0000006-GENCC_100009"	"HGNC:6345"	"KLF1"	"MONDO:0018749"	"hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	"Orphanet:46532"	"Orphanet:46532"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6345"	"KLF1"	"Orphanet:46532"	"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20676099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19340"	"2021-09-14"
"GENCC_000110-HGNC_6345-Orphanet_251380-HP_0000007-GENCC_100009"	"HGNC:6345"	"KLF1"	"MONDO:0016672"	"hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	"Orphanet:251380"	"Orphanet:251380"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6345"	"KLF1"	"Orphanet:251380"	"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20676099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19340"	"2021-09-14"
"GENCC_000110-HGNC_6345-Orphanet_293825-HP_0000006-GENCC_100009"	"HGNC:6345"	"KLF1"	"MONDO:0013355"	"congenital dyserythropoietic anemia type 4"	"Orphanet:293825"	"Orphanet:293825"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6345"	"KLF1"	"Orphanet:293825"	"Congenital dyserythropoietic anemia type IV"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19340"	"2021-09-14"
"GENCC_000110-HGNC_29298-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:29298"	"CEP152"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29298"	"CEP152"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19341"	"2021-09-14"
"GENCC_000110-HGNC_29298-Orphanet_808-HP_0000007-GENCC_100009"	"HGNC:29298"	"CEP152"	"MONDO:0019342"	"Seckel syndrome"	"Orphanet:808"	"Orphanet:808"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29298"	"CEP152"	"Orphanet:808"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21131973[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19341"	"2021-09-14"
"GENCC_000110-HGNC_1552-Orphanet_242-HP_0000006-GENCC_100009"	"HGNC:1552"	"CBX2"	"MONDO:0010765"	"46,XY complete gonadal dysgenesis"	"Orphanet:242"	"Orphanet:242"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1552"	"CBX2"	"Orphanet:242"	"46,XY complete gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19361780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19343"	"2021-09-14"
"GENCC_000110-HGNC_10959-Orphanet_3111-HP_0000007-GENCC_100009"	"HGNC:10959"	"SLCO1B1"	"MONDO:0009379"	"Rotor syndrome"	"Orphanet:3111"	"Orphanet:3111"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10959"	"SLCO1B1"	"Orphanet:3111"	"Rotor syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22232210[PMID]_23236639[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19458"	"2021-09-14"
"GENCC_000110-HGNC_25155-Orphanet_93600-HP_0000007-GENCC_100009"	"HGNC:25155"	"HOGA1"	"MONDO:0013327"	"primary hyperoxaluria type 3"	"Orphanet:93600"	"Orphanet:93600"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25155"	"HOGA1"	"Orphanet:93600"	"Primary hyperoxaluria type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19460"	"2021-09-14"
"GENCC_000110-HGNC_19711-Orphanet_2162-HP_0000007-GENCC_100009"	"HGNC:19711"	"DISP1"	"MONDO:0016296"	"holoprosencephaly"	"Orphanet:2162"	"Orphanet:2162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19711"	"DISP1"	"Orphanet:2162"	"Holoprosencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29785796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19461"	"2021-09-14"
"GENCC_000110-HGNC_1541-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:1541"	"CBL"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1541"	"CBL"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25952305[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19464"	"2021-09-14"
"GENCC_000110-HGNC_1541-Orphanet_363972-HP_0000006-GENCC_100009"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"Orphanet:363972"	"Orphanet:363972"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1541"	"CBL"	"Orphanet:363972"	"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20543203[PMID]_20619386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19464"	"2021-09-14"
"GENCC_000110-HGNC_11828-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:11828"	"TJP2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11828"	"TJP2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19466"	"2021-09-14"
"GENCC_000110-HGNC_11828-Orphanet_238475-HP_0000007-GENCC_100009"	"HGNC:11828"	"TJP2"	"MONDO:0011905"	"familial hypercholanemia"	"Orphanet:238475"	"Orphanet:238475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11828"	"TJP2"	"Orphanet:238475"	"Familial hypercholanemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12704386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19466"	"2021-09-14"
"GENCC_000110-HGNC_20444-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:20444"	"MBD5"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20444"	"MBD5"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23422940[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19472"	"2021-09-14"
"GENCC_000110-HGNC_24475-Orphanet_243343-HP_0000007-GENCC_100009"	"HGNC:24475"	"DMGDH"	"MONDO:0011610"	"dimethylglycine dehydrogenase deficiency"	"Orphanet:243343"	"Orphanet:243343"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24475"	"DMGDH"	"Orphanet:243343"	"Dimethylglycine dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11231903[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19475"	"2021-09-14"
"GENCC_000110-HGNC_11075-Orphanet_244305-HP_0000006-GENCC_100009"	"HGNC:11075"	"NHERF1"	"MONDO:0016579"	"dominant hypophosphatemia with nephrolithiasis or osteoporosis"	"Orphanet:244305"	"Orphanet:244305"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11075"	"SLC9A3R1"	"Orphanet:244305"	"Dominant hypophosphatemia with nephrolithiasis or osteoporosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18784102[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19479"	"2021-09-14"
"GENCC_000110-HGNC_10671-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:10671"	"SDCCAG8"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10671"	"SDCCAG8"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22819833[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19480"	"2021-09-14"
"GENCC_000110-HGNC_10671-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:10671"	"SDCCAG8"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10671"	"SDCCAG8"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20835237[PMID]_20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19480"	"2021-09-14"
"GENCC_000110-HGNC_20278-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:20278"	"NUBPL"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20278"	"NUBPL"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20818383[PMID]_22644603[PMID]_23553477[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19482"	"2021-09-14"
"GENCC_000110-HGNC_26927-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:26927"	"FOXRED1"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26927"	"FOXRED1"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20858599[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19483"	"2021-09-14"
"GENCC_000110-HGNC_26927-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:26927"	"FOXRED1"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26927"	"FOXRED1"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20818383[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19483"	"2021-09-14"
"GENCC_000110-HGNC_10975-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:10975"	"SLC24A1"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10975"	"SLC24A1"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20850105[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19484"	"2021-09-14"
"GENCC_000110-HGNC_14550-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:14550"	"CDHR1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14550"	"CDHR1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20087419[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19485"	"2021-09-14"
"GENCC_000110-HGNC_14550-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:14550"	"CDHR1"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14550"	"CDHR1"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20805371[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19485"	"2021-09-14"
"GENCC_000110-HGNC_19869-Orphanet_2460-HP_0000007-GENCC_100009"	"HGNC:19869"	"SCARF2"	"MONDO:0010959"	"van den Ende-Gupta syndrome"	"Orphanet:2460"	"Orphanet:2460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19869"	"SCARF2"	"Orphanet:2460"	"Van den Ende-Gupta syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20887961[PMID]_22140376[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19486"	"2021-09-14"
"GENCC_000110-HGNC_24154-Orphanet_66637-HP_0000007-GENCC_100009"	"HGNC:24154"	"BMPER"	"MONDO:0011946"	"diaphanospondylodysostosis"	"Orphanet:66637"	"Orphanet:66637"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24154"	"BMPER"	"Orphanet:66637"	"Diaphanospondylodysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20869035[PMID]_21990102[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19487"	"2021-09-14"
"GENCC_000110-HGNC_24154-Orphanet_85200-HP_0000007-GENCC_100009"	"HGNC:24154"	"BMPER"	"MONDO:0019413"	"ischio-vertebral syndrome"	"Orphanet:85200"	"Orphanet:85200"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24154"	"BMPER"	"Orphanet:85200"	"Ischiovertebral syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26728142[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19487"	"2021-09-14"
"GENCC_000110-HGNC_11278-Orphanet_36386-HP_0000006-GENCC_100009"	"HGNC:11278"	"SPTLC2"	"MONDO:0018213"	"hereditary sensory and autonomic neuropathy type 1"	"Orphanet:36386"	"Orphanet:36386"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11278"	"SPTLC2"	"Orphanet:36386"	"Hereditary sensory and autonomic neuropathy type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20920666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19488"	"2021-09-14"
"GENCC_000110-HGNC_13831-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:13831"	"WDR11"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13831"	"WDR11"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20887964[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19489"	"2021-09-14"
"GENCC_000110-HGNC_13831-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:13831"	"WDR11"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13831"	"WDR11"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20887964[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19489"	"2021-09-14"
"GENCC_000110-HGNC_30220-Orphanet_244310-HP_0000007-GENCC_100009"	"HGNC:30220"	"RFT1"	"MONDO:0012783"	"RFT1-congenital disorder of glycosylation"	"Orphanet:244310"	"Orphanet:244310"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30220"	"RFT1"	"Orphanet:244310"	"RFT1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19490"	"2021-09-14"
"GENCC_000110-HGNC_8768-Orphanet_83629-HP_0001417-GENCC_100009"	"HGNC:8768"	"AIFM1"	"MONDO:0010275"	"spondyloepimetaphyseal dysplasia, Bieganski type"	"Orphanet:83629"	"Orphanet:83629"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8768"	"AIFM1"	"Orphanet:83629"	"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27102849[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19491"	"2021-09-14"
"GENCC_000110-HGNC_8768-Orphanet_101078-HP_0001417-GENCC_100009"	"HGNC:8768"	"AIFM1"	"MONDO:0010689"	"Charcot-Marie-Tooth disease X-linked recessive 4"	"Orphanet:101078"	"Orphanet:101078"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8768"	"AIFM1"	"Orphanet:101078"	"X-linked Charcot-Marie-Tooth disease type 4"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23217327[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19491"	"2021-09-14"
"GENCC_000110-HGNC_8768-Orphanet_139583-HP_0001417-GENCC_100009"	"HGNC:8768"	"AIFM1"	"MONDO:0010378"	"X-linked hereditary sensory and autonomic neuropathy with hearing loss"	"Orphanet:139583"	"Orphanet:139583"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8768"	"AIFM1"	"Orphanet:139583"	"X-linked hereditary sensory and autonomic neuropathy with deafness"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25986071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19491"	"2021-09-14"
"GENCC_000110-HGNC_8768-Orphanet_238329-HP_0001417-GENCC_100009"	"HGNC:8768"	"AIFM1"	"MONDO:0010437"	"severe X-linked mitochondrial encephalomyopathy"	"Orphanet:238329"	"Orphanet:238329"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8768"	"AIFM1"	"Orphanet:238329"	"Severe X-linked mitochondrial encephalomyopathy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20362274[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19491"	"2021-09-14"
"GENCC_000110-HGNC_11049-Orphanet_238455-HP_0000007-GENCC_100009"	"HGNC:11049"	"SLC6A3"	"MONDO:0013150"	"parkinsonism-dystonia, infantile"	"Orphanet:238455"	"Orphanet:238455"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11049"	"SLC6A3"	"Orphanet:238455"	"Infantile dystonia-parkinsonism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19492"	"2021-09-14"
"GENCC_000110-HGNC_932-Orphanet_238475-HP_0000007-GENCC_100009"	"HGNC:932"	"BAAT"	"MONDO:0011905"	"familial hypercholanemia"	"Orphanet:238475"	"Orphanet:238475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:932"	"BAAT"	"Orphanet:238475"	"Familial hypercholanemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12704386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19493"	"2021-09-14"
"GENCC_000110-HGNC_5964-Orphanet_238569-HP_0000007-GENCC_100009"	"HGNC:5964"	"IL10RA"	"MONDO:0016542"	"IL10-related early-onset inflammatory bowel disease"	"Orphanet:238569"	"Orphanet:238569"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5964"	"IL10RA"	"Orphanet:238569"	"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22549091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19497"	"2021-09-14"
"GENCC_000110-HGNC_5965-Orphanet_238569-HP_0000007-GENCC_100009"	"HGNC:5965"	"IL10RB"	"MONDO:0016542"	"IL10-related early-onset inflammatory bowel disease"	"Orphanet:238569"	"Orphanet:238569"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5965"	"IL10RB"	"Orphanet:238569"	"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22549091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19498"	"2021-09-14"
"GENCC_000110-HGNC_2701-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:2701"	"DCC"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2701"	"DCC"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29202173[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19499"	"2021-09-14"
"GENCC_000110-HGNC_2701-Orphanet_238722-HP_0000006-GENCC_100009"	"HGNC:2701"	"DCC"	"MONDO:0016558"	"familial congenital mirror movements"	"Orphanet:238722"	"Orphanet:238722"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2701"	"DCC"	"Orphanet:238722"	"Familial congenital mirror movements"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20431009[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19499"	"2021-09-14"
"GENCC_000110-HGNC_25244-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:25244"	"CCDC39"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25244"	"CCDC39"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19500"	"2021-09-14"
"GENCC_000110-HGNC_26090-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:26090"	"CCDC40"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26090"	"CCDC40"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19501"	"2021-09-14"
"GENCC_000110-HGNC_24682-Orphanet_88628-HP_0000007-GENCC_100009"	"HGNC:24682"	"FLVCR1"	"MONDO:0012177"	"posterior column ataxia-retinitis pigmentosa syndrome"	"Orphanet:88628"	"Orphanet:88628"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24682"	"FLVCR1"	"Orphanet:88628"	"Posterior column ataxia-retinitis pigmentosa syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21267618[PMID]_20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19502"	"2021-09-14"
"GENCC_000110-HGNC_7590-Orphanet_2241-HP_0000006-GENCC_100009"	"HGNC:7590"	"MYLK"	"MONDO:0007960"	"megacystis-microcolon-intestinal hypoperistalsis syndrome"	"Orphanet:2241"	"Orphanet:2241"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7590"	"MYLK"	"Orphanet:2241"	"Megacystis-microcolon-intestinal hypoperistalsis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28602422[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19503"	"2021-09-14"
"GENCC_000110-HGNC_7590-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:7590"	"MYLK"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7590"	"MYLK"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19503"	"2021-09-14"
"GENCC_000110-HGNC_5383-Orphanet_79315-HP_0000006-GENCC_100009"	"HGNC:5383"	"IDH2"	"MONDO:0010924"	"D-2-hydroxyglutaric aciduria"	"Orphanet:79315"	"Orphanet:79315"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5383"	"IDH2"	"Orphanet:79315"	"D-2-hydroxyglutaric aciduria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20847235[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19506"	"2021-09-14"
"GENCC_000110-HGNC_28027-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:28027"	"WDPCP"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28027"	"WDPCP"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19509"	"2021-09-14"
"GENCC_000110-HGNC_14064-Orphanet_163966-HP_0001417-GENCC_100009"	"HGNC:14064"	"HDAC6"	"MONDO:0010463"	"X-linked dominant chondrodysplasia, Chassaing-Lacombe type"	"Orphanet:163966"	"Orphanet:163966"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:14064"	"HDAC6"	"Orphanet:163966"	"X-linked dominant chondrodysplasia, Chassaing-Lacombe type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20181727[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19581"	"2021-09-14"
"GENCC_000110-HGNC_20422-Orphanet_861-HP_0000006-GENCC_100009"	"HGNC:20422"	"POLR1D"	"MONDO:0002457"	"Treacher-Collins syndrome"	"Orphanet:861"	"Orphanet:861"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20422"	"POLR1D"	"Orphanet:861"	"Treacher-Collins syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301704[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19584"	"2021-09-14"
"GENCC_000110-HGNC_28880-Orphanet_317476-HP_0000005-GENCC_100009"	"HGNC:28880"	"MAGT1"	"MONDO:0010455"	"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"	"Orphanet:317476"	"Orphanet:317476"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:28880"	"MAGT1"	"Orphanet:317476"	"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19585"	"2021-09-14"
"GENCC_000110-HGNC_4218-Orphanet_2345-HP_0000006-GENCC_100009"	"HGNC:4218"	"GDF3"	"MONDO:0016520"	"isolated Klippel-Feil syndrome"	"Orphanet:2345"	"Orphanet:2345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4218"	"GDF3"	"Orphanet:2345"	"Isolated Klippel-Feil syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19864492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19586"	"2021-09-14"
"GENCC_000110-HGNC_4218-Orphanet_2542-HP_0000006-GENCC_100009"	"HGNC:4218"	"GDF3"	"MONDO:0016764"	"isolated anophthalmia-microphthalmia syndrome"	"Orphanet:2542"	"Orphanet:2542"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4218"	"GDF3"	"Orphanet:2542"	"Isolated microphthalmia-anophthalmia-coloboma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19864492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19586"	"2021-09-14"
"GENCC_000110-HGNC_4218-Orphanet_98938-HP_0000006-GENCC_100009"	"HGNC:4218"	"GDF3"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4218"	"GDF3"	"Orphanet:98938"	"Colobomatous microphthalmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19864492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19586"	"2021-09-14"
"GENCC_000110-HGNC_20194-Orphanet_861-HP_0000006-GENCC_100009"	"HGNC:20194"	"POLR1C"	"MONDO:0002457"	"Treacher-Collins syndrome"	"Orphanet:861"	"Orphanet:861"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20194"	"POLR1C"	"Orphanet:861"	"Treacher-Collins syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301704[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19587"	"2021-09-14"
"GENCC_000110-HGNC_20194-Orphanet_88637-HP_0000007-GENCC_100009"	"HGNC:20194"	"POLR1C"	"MONDO:0019505"	"hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"	"Orphanet:88637"	"Orphanet:88637"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20194"	"POLR1C"	"Orphanet:88637"	"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26151409[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19587"	"2021-09-14"
"GENCC_000110-HGNC_30605-Orphanet_2524-HP_0000007-GENCC_100009"	"HGNC:30605"	"SEPSECS"	"MONDO:0016759"	"pontocerebellar hypoplasia type 2"	"Orphanet:2524"	"Orphanet:2524"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30605"	"SEPSECS"	"Orphanet:2524"	"Pontocerebellar hypoplasia type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20920667[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19617"	"2021-09-14"
"GENCC_000110-HGNC_30605-Orphanet_247198-HP_0000007-GENCC_100009"	"HGNC:30605"	"SEPSECS"	"MONDO:0016589"	"progressive cerebello-cerebral atrophy"	"Orphanet:247198"	"Orphanet:247198"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30605"	"SEPSECS"	"Orphanet:247198"	"Progressive cerebello-cerebral atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20920667[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19617"	"2021-09-14"
"GENCC_000110-HGNC_26031-Orphanet_247262-HP_0000007-GENCC_100009"	"HGNC:26031"	"PIGV"	"MONDO:0016596"	"hyperphosphatasia-intellectual disability syndrome"	"Orphanet:247262"	"Orphanet:247262"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26031"	"PIGV"	"Orphanet:247262"	"Hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24129430[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19641"	"2021-09-14"
"GENCC_000110-HGNC_19688-Orphanet_247820-HP_0000007-GENCC_100009"	"HGNC:19688"	"NECTIN4"	"MONDO:0013311"	"ectodermal dysplasia-syndactyly syndrome"	"Orphanet:247820"	"Orphanet:247820"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19688"	"NECTIN4"	"Orphanet:247820"	"Ectodermal dysplasia-syndactyly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20691405[PMID]_21346770[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19677"	"2021-09-14"
"GENCC_000110-HGNC_15946-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:15946"	"RP1L1"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15946"	"RP1L1"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31833436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19678"	"2021-09-14"
"GENCC_000110-HGNC_15946-Orphanet_247834-HP_0000006-GENCC_100009"	"HGNC:15946"	"RP1L1"	"MONDO:0013316"	"occult macular dystrophy"	"Orphanet:247834"	"Orphanet:247834"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15946"	"RP1L1"	"Orphanet:247834"	"Occult macular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20826268[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19678"	"2021-09-14"
"GENCC_000110-HGNC_6901-Orphanet_293843-HP_0000007-GENCC_100009"	"HGNC:6901"	"MASP1"	"MONDO:0017398"	"3MC syndrome"	"Orphanet:293843"	"Orphanet:293843"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6901"	"MASP1"	"Orphanet:293843"	"3MC syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21258343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19721"	"2021-09-14"
"GENCC_000110-HGNC_7685-Orphanet_85136-HP_0000007-GENCC_100009"	"HGNC:7685"	"NDUFA2"	"MONDO:0013058"	"cystic leukoencephalopathy without megalencephaly"	"Orphanet:85136"	"Orphanet:85136"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7685"	"NDUFA2"	"Orphanet:85136"	"Cystic leukoencephalopathy without megalencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28857146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19734"	"2021-09-14"
"GENCC_000110-HGNC_7685-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7685"	"NDUFA2"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7685"	"NDUFA2"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18513682[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19734"	"2021-09-14"
"GENCC_000110-HGNC_17759-Orphanet_254898-HP_0000007-GENCC_100009"	"HGNC:17759"	"PDSS1"	"MONDO:0013837"	"deafness-encephaloneuropathy-obesity-valvulopathy syndrome"	"Orphanet:254898"	"Orphanet:254898"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17759"	"PDSS1"	"Orphanet:254898"	"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17332895[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19735"	"2021-09-14"
"GENCC_000110-HGNC_27375-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:27375"	"MSRB3"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27375"	"MSRB3"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19816"	"2021-09-14"
"GENCC_000110-HGNC_15917-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:15917"	"PLCB1"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15917"	"PLCB1"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20833646[PMID]_22196487[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19817"	"2021-09-14"
"GENCC_000110-HGNC_15917-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:15917"	"PLCB1"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15917"	"PLCB1"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22690784[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19817"	"2021-09-14"
"GENCC_000110-HGNC_37227-Orphanet_171439-HP_0000006-GENCC_100009"	"HGNC:37227"	"KBTBD13"	"MONDO:0015738"	"childhood-onset nemaline myopathy"	"Orphanet:171439"	"Orphanet:171439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:37227"	"KBTBD13"	"Orphanet:171439"	"Childhood-onset nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301465[PMID]_21104864[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19818"	"2021-09-14"
"GENCC_000110-HGNC_9545-Orphanet_324977-HP_0000007-GENCC_100009"	"HGNC:9545"	"PSMB8"	"MONDO:0009726"	"proteosome-associated autoinflammatory syndrome"	"Orphanet:324977"	"Orphanet:324977"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9545"	"PSMB8"	"Orphanet:324977"	"Proteasome-associated autoinflammatory syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21852578[PMID]_21129723[PMID]_21953331[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19820"	"2021-09-14"
"GENCC_000110-HGNC_7744-Orphanet_2751-HP_0000007-GENCC_100009"	"HGNC:7744"	"NEK1"	"MONDO:0009642"	"orofaciodigital syndrome type II"	"Orphanet:2751"	"Orphanet:2751"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7744"	"NEK1"	"Orphanet:2751"	"Orofaciodigital syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27530628[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19821"	"2021-09-14"
"GENCC_000110-HGNC_7744-Orphanet_93269-HP_0000007-GENCC_100009"	"HGNC:7744"	"NEK1"	"MONDO:0019662"	"short rib-polydactyly syndrome, Majewski type"	"Orphanet:93269"	"Orphanet:93269"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7744"	"NEK1"	"Orphanet:93269"	"Short rib-polydactyly syndrome, Majewski type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791528[PMID]_22499340[PMID]_21211617[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19821"	"2021-09-14"
"GENCC_000110-HGNC_10648-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:10648"	"AIMP1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10648"	"AIMP1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26173967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19822"	"2021-09-14"
"GENCC_000110-HGNC_10648-Orphanet_280293-HP_0000007-GENCC_100009"	"HGNC:10648"	"AIMP1"	"MONDO:0009843"	"hypomyelinating leukodystrophy 3"	"Orphanet:280293"	"Orphanet:280293"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10648"	"AIMP1"	"Orphanet:280293"	"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21092922[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19822"	"2021-09-14"
"GENCC_000110-HGNC_20318-Orphanet_1106-HP_0000007-GENCC_100009"	"HGNC:20318"	"SMOC1"	"MONDO:0008800"	"microphthalmia with limb anomalies"	"Orphanet:1106"	"Orphanet:1106"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20318"	"SMOC1"	"Orphanet:1106"	"Microphthalmia with limb anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19823"	"2021-09-14"
"GENCC_000110-HGNC_25240-Orphanet_806-HP_0000007-GENCC_100009"	"HGNC:25240"	"ANO6"	"MONDO:0009885"	"Scott syndrome"	"Orphanet:806"	"Orphanet:806"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25240"	"ANO6"	"Orphanet:806"	"Scott syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21107324[PMID]_21511967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19824"	"2021-09-14"
"GENCC_000110-HGNC_23845-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:23845"	"SLX4"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23845"	"SLX4"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19826"	"2021-09-14"
"GENCC_000110-HGNC_124-Orphanet_1855-HP_0000007-GENCC_100009"	"HGNC:124"	"ACP5"	"MONDO:0011939"	"Spondyloenchondrodysplasia with immune dysregulation"	"Orphanet:1855"	"Orphanet:1855"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:124"	"ACP5"	"Orphanet:1855"	"Spondyloenchondrodysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21217755[PMID]_21217752[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19827"	"2021-09-14"
"GENCC_000110-HGNC_20603-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:20603"	"DHDDS"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20603"	"DHDDS"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19828"	"2021-09-14"
"GENCC_000110-HGNC_20603-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:20603"	"DHDDS"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20603"	"DHDDS"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19828"	"2021-09-14"
"GENCC_000110-HGNC_4241-Orphanet_353327-HP_0000007-GENCC_100009"	"HGNC:4241"	"GFPT1"	"MONDO:0018144"	"congenital myasthenic syndromes with glycosylation defect"	"Orphanet:353327"	"Orphanet:353327"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4241"	"GFPT1"	"Orphanet:353327"	"Congenital myasthenic syndromes with glycosylation defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23404334[PMID]_21310273[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19829"	"2021-09-14"
"GENCC_000110-HGNC_28741-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:28741"	"ILDR1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28741"	"ILDR1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19830"	"2021-09-14"
"GENCC_000110-HGNC_6769-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:6769"	"SMAD3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6769"	"SMAD3"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19833"	"2021-09-14"
"GENCC_000110-HGNC_6769-Orphanet_284984-HP_0000006-GENCC_100009"	"HGNC:6769"	"SMAD3"	"MONDO:0013426"	"aneurysm-osteoarthritis syndrome"	"Orphanet:284984"	"Orphanet:284984"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6769"	"SMAD3"	"Orphanet:284984"	"Aneurysm-osteoarthritis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22167769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19833"	"2021-09-14"
"GENCC_000110-HGNC_8490-Orphanet_2554-HP_0000006-GENCC_100009"	"HGNC:8490"	"ORC4"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"Orphanet:2554"	"Orphanet:2554"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8490"	"ORC4"	"Orphanet:2554"	"Ear-patella-short stature syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23516378[PMID]_21358632[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19834"	"2021-09-14"
"GENCC_000110-HGNC_17151-Orphanet_2554-HP_0000006-GENCC_100009"	"HGNC:17151"	"ORC6"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"Orphanet:2554"	"Orphanet:2554"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17151"	"ORC6"	"Orphanet:2554"	"Ear-patella-short stature syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23516378[PMID]_21358632[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19835"	"2021-09-14"
"GENCC_000110-HGNC_24576-Orphanet_2554-HP_0000006-GENCC_100009"	"HGNC:24576"	"CDT1"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"Orphanet:2554"	"Orphanet:2554"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24576"	"CDT1"	"Orphanet:2554"	"Ear-patella-short stature syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23516378[PMID]_21358632[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19836"	"2021-09-14"
"GENCC_000110-HGNC_1744-Orphanet_2554-HP_0000006-GENCC_100009"	"HGNC:1744"	"CDC6"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"Orphanet:2554"	"Orphanet:2554"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1744"	"CDC6"	"Orphanet:2554"	"Ear-patella-short stature syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23516378[PMID]_21358632[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19837"	"2021-09-14"
"GENCC_000110-HGNC_25660-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:25660"	"TTC21B"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25660"	"TTC21B"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21258341[PMID]_22791528[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19838"	"2021-09-14"
"GENCC_000110-HGNC_25660-Orphanet_93591-HP_0000007-GENCC_100009"	"HGNC:25660"	"TTC21B"	"MONDO:0011190"	"nephronophthisis 2"	"Orphanet:93591"	"Orphanet:93591"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25660"	"TTC21B"	"Orphanet:93591"	"Infantile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21258341[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19838"	"2021-09-14"
"GENCC_000110-HGNC_26006-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:26006"	"TTC19"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26006"	"TTC19"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21278747[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19839"	"2021-09-14"
"GENCC_000110-HGNC_25774-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:25774"	"TCTN2"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25774"	"TCTN2"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21462283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19840"	"2021-09-14"
"GENCC_000110-HGNC_25774-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:25774"	"TCTN2"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25774"	"TCTN2"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21565611[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19840"	"2021-09-14"
"GENCC_000110-HGNC_29186-Orphanet_71290-HP_0000006-GENCC_100009"	"HGNC:29186"	"ANKRD26"	"MONDO:0011071"	"hereditary thrombocytopenia and hematologic cancer predisposition syndrome"	"Orphanet:71290"	"Orphanet:71290"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29186"	"ANKRD26"	"Orphanet:71290"	"Familial platelet disorder with associated myeloid malignancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28109976[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19841"	"2021-09-14"
"GENCC_000110-HGNC_29186-Orphanet_168629-HP_0000006-GENCC_100009"	"HGNC:29186"	"ANKRD26"	"MONDO:0015679"	"autosomal thrombocytopenia with normal platelets"	"Orphanet:168629"	"Orphanet:168629"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29186"	"ANKRD26"	"Orphanet:168629"	"Autosomal thrombocytopenia with normal platelets"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26175287[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19841"	"2021-09-14"
"GENCC_000110-HGNC_6848-Orphanet_242-HP_0000006-GENCC_100009"	"HGNC:6848"	"MAP3K1"	"MONDO:0010765"	"46,XY complete gonadal dysgenesis"	"Orphanet:242"	"Orphanet:242"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6848"	"MAP3K1"	"Orphanet:242"	"46,XY complete gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21129722[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19842"	"2021-09-14"
"GENCC_000110-HGNC_6848-Orphanet_251510-HP_0000006-GENCC_100009"	"HGNC:6848"	"MAP3K1"	"MONDO:0016674"	"46,XY partial gonadal dysgenesis"	"Orphanet:251510"	"Orphanet:251510"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6848"	"MAP3K1"	"Orphanet:251510"	"46,XY partial gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21129722[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19842"	"2021-09-14"
"GENCC_000110-HGNC_8487-Orphanet_2554-HP_0000006-GENCC_100009"	"HGNC:8487"	"ORC1"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"Orphanet:2554"	"Orphanet:2554"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8487"	"ORC1"	"Orphanet:2554"	"Ear-patella-short stature syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23516378[PMID]_21358632[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19843"	"2021-09-14"
"GENCC_000110-HGNC_24247-Orphanet_941-HP_0000007-GENCC_100009"	"HGNC:24247"	"GLYCTK"	"MONDO:0009070"	"D-glyceric aciduria"	"Orphanet:941"	"Orphanet:941"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24247"	"GLYCTK"	"Orphanet:941"	"D-glyceric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20949620[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19844"	"2021-09-14"
"GENCC_000110-HGNC_17213-Orphanet_293843-HP_0000007-GENCC_100009"	"HGNC:17213"	"COLEC11"	"MONDO:0017398"	"3MC syndrome"	"Orphanet:293843"	"Orphanet:293843"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17213"	"COLEC11"	"Orphanet:293843"	"3MC syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21258343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19845"	"2021-09-14"
"GENCC_000110-HGNC_12410-Orphanet_250972-HP_0000007-GENCC_100009"	"HGNC:12410"	"TUBA8"	"MONDO:0013172"	"polymicrogyria with optic nerve hypoplasia"	"Orphanet:250972"	"Orphanet:250972"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12410"	"TUBA8"	"Orphanet:250972"	"Polymicrogyria with optic nerve hypoplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19896110[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19847"	"2021-09-14"
"GENCC_000110-HGNC_794-Orphanet_250977-HP_0000007-GENCC_100009"	"HGNC:794"	"ATIC"	"MONDO:0012099"	"AICA-ribosiduria"	"Orphanet:250977"	"Orphanet:250977"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:794"	"ATIC"	"Orphanet:250977"	"AICA-ribosiduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15114530[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"19848"	"2021-09-14"
"GENCC_000110-HGNC_26361-Orphanet_2478-HP_0000006-GENCC_100009"	"HGNC:26361"	"HEPACAM"	"MONDO:0011391"	"megalencephalic leukoencephalopathy with subcortical cysts"	"Orphanet:2478"	"Orphanet:2478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26361"	"HEPACAM"	"Orphanet:2478"	"Megalencephalic leukoencephalopathy with subcortical cysts"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301707[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20101"	"2021-09-14"
"GENCC_000110-HGNC_26361-Orphanet_210548-HP_0000006-GENCC_100009"	"HGNC:26361"	"HEPACAM"	"MONDO:0011537"	"macrocephaly-autism syndrome"	"Orphanet:210548"	"Orphanet:210548"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26361"	"HEPACAM"	"Orphanet:210548"	"Macrocephaly-intellectual disability-autism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21419380[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20101"	"2021-09-14"
"GENCC_000110-HGNC_23452-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:23452"	"LIPN"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23452"	"LIPN"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21439540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20102"	"2021-09-14"
"GENCC_000110-HGNC_39433-Orphanet_35612-HP_0000006-GENCC_100009"	"HGNC:39433"	"PRSS56"	"MONDO:0005514"	"nanophthalmia"	"Orphanet:35612"	"Orphanet:35612"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:39433"	"PRSS56"	"Orphanet:35612"	"Nanophthalmos"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21850159[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20135"	"2021-09-14"
"GENCC_000110-HGNC_7684-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7684"	"NDUFA10"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7684"	"NDUFA10"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21150889[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20138"	"2021-09-14"
"GENCC_000110-HGNC_19414-Orphanet_171709-HP_0000007-GENCC_100009"	"HGNC:19414"	"DPY19L2"	"MONDO:0015746"	"male infertility due to globozoospermia"	"Orphanet:171709"	"Orphanet:171709"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19414"	"DPY19L2"	"Orphanet:171709"	"Male infertility due to globozoospermia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397063[PMID]_22571172[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20139"	"2021-09-14"
"GENCC_000110-HGNC_8824-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:8824"	"SERPINF1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8824"	"SERPINF1"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21353196[PMID]_25046257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20140"	"2021-09-14"
"GENCC_000110-HGNC_8824-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:8824"	"SERPINF1"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8824"	"SERPINF1"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25046257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20140"	"2021-09-14"
"GENCC_000110-HGNC_4551-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:4551"	"TECR"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4551"	"TECR"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21212097[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20141"	"2021-09-14"
"GENCC_000110-HGNC_31948-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:31948"	"CEACAM16"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:31948"	"CEACAM16"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21368133[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20142"	"2021-09-14"
"GENCC_000110-HGNC_31948-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:31948"	"CEACAM16"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:31948"	"CEACAM16"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29703829[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20142"	"2021-09-14"
"GENCC_000110-HGNC_30129-Orphanet_93347-HP_0000007-GENCC_100009"	"HGNC:30129"	"POP1"	"MONDO:0011773"	"anauxetic dysplasia"	"Orphanet:93347"	"Orphanet:93347"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30129"	"POP1"	"Orphanet:93347"	"Anauxetic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21455487[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20143"	"2021-09-14"
"GENCC_000110-HGNC_5985-Orphanet_1334-HP_0000006-GENCC_100009"	"HGNC:5985"	"IL17RA"	"MONDO:0015279"	"chronic mucocutaneous candidiasis"	"Orphanet:1334"	"Orphanet:1334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5985"	"IL17RA"	"Orphanet:1334"	"Chronic mucocutaneous candidiasis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21350122[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20144"	"2021-09-14"
"GENCC_000110-HGNC_16404-Orphanet_1334-HP_0000006-GENCC_100009"	"HGNC:16404"	"IL17F"	"MONDO:0015279"	"chronic mucocutaneous candidiasis"	"Orphanet:1334"	"Orphanet:1334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16404"	"IL17F"	"Orphanet:1334"	"Chronic mucocutaneous candidiasis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21350122[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20145"	"2021-09-14"
"GENCC_000110-HGNC_4586-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:4586"	"GRIN2B"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4586"	"GRIN2B"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24272827[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20146"	"2021-09-14"
"GENCC_000110-HGNC_4586-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:4586"	"GRIN2B"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4586"	"GRIN2B"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20890276[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20146"	"2021-09-14"
"GENCC_000110-HGNC_15860-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:15860"	"PRPF6"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15860"	"PRPF6"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20147"	"2021-09-14"
"GENCC_000110-HGNC_25522-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:25522"	"WRAP53"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25522"	"WRAP53"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20148"	"2021-09-14"
"GENCC_000110-HGNC_6215-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:6215"	"KARS1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6215"	"KARS1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23768514[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20149"	"2021-09-14"
"GENCC_000110-HGNC_6215-Orphanet_254334-HP_0000007-GENCC_100009"	"HGNC:6215"	"KARS1"	"MONDO:0013338"	"Charcot-Marie-Tooth disease recessive intermediate B"	"Orphanet:254334"	"Orphanet:254334"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6215"	"KARS1"	"Orphanet:254334"	"Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20920668[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20149"	"2021-09-14"
"GENCC_000110-HGNC_29216-Orphanet_974-HP_0000006-GENCC_100009"	"HGNC:29216"	"ARHGAP31"	"MONDO:0007034"	"Adams-Oliver syndrome"	"Orphanet:974"	"Orphanet:974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29216"	"ARHGAP31"	"Orphanet:974"	"Adams-Oliver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21565291[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20151"	"2021-09-14"
"GENCC_000110-HGNC_14048-Orphanet_254920-HP_0000007-GENCC_100009"	"HGNC:14048"	"MRPS16"	"MONDO:0012510"	"combined oxidative phosphorylation defect type 2"	"Orphanet:254920"	"Orphanet:254920"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14048"	"MRPS16"	"Orphanet:254920"	"Combined oxidative phosphorylation defect type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15505824[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20153"	"2021-09-14"
"GENCC_000110-HGNC_12420-Orphanet_254925-HP_0000007-GENCC_100009"	"HGNC:12420"	"TUFM"	"MONDO:0012534"	"combined oxidative phosphorylation defect type 4"	"Orphanet:254925"	"Orphanet:254925"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12420"	"TUFM"	"Orphanet:254925"	"Combined oxidative phosphorylation defect type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17160893[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20154"	"2021-09-14"
"GENCC_000110-HGNC_838-Orphanet_254913-HP_0000007-GENCC_100009"	"HGNC:838"	"ATP5F1E"	"MONDO:0014471"	"mitochondrial proton-transporting ATP synthase complex deficiency"	"Orphanet:254913"	"Orphanet:254913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:838"	"ATP5F1E"	"Orphanet:254913"	"Isolated ATP synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20566710[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20155"	"2021-09-14"
"GENCC_000110-HGNC_14244-Orphanet_2510-HP_0000007-GENCC_100009"	"HGNC:14244"	"RAB18"	"MONDO:0016649"	"Warburg micro syndrome"	"Orphanet:2510"	"Orphanet:2510"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14244"	"RAB18"	"Orphanet:2510"	"Micro syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23420520[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20157"	"2021-09-14"
"GENCC_000110-HGNC_4817-Orphanet_2855-HP_0000007-GENCC_100009"	"HGNC:4817"	"HARS2"	"MONDO:0017312"	"Perrault syndrome"	"Orphanet:2855"	"Orphanet:2855"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4817"	"HARS2"	"Orphanet:2855"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21464306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20159"	"2021-09-14"
"GENCC_000110-HGNC_30497-Orphanet_36-HP_0000007-GENCC_100009"	"HGNC:30497"	"KIF7"	"MONDO:0008708"	"acrocallosal syndrome"	"Orphanet:36"	"Orphanet:36"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30497"	"KIF7"	"Orphanet:36"	"Acrocallosal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21552264[PMID]_23142271[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20160"	"2021-09-14"
"GENCC_000110-HGNC_30497-Orphanet_2189-HP_0000007-GENCC_100009"	"HGNC:30497"	"KIF7"	"MONDO:0006037"	"hydrolethalus syndrome"	"Orphanet:2189"	"Orphanet:2189"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30497"	"KIF7"	"Orphanet:2189"	"Hydrolethalus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21552264[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20160"	"2021-09-14"
"GENCC_000110-HGNC_30497-Orphanet_2754-HP_0000007-GENCC_100009"	"HGNC:30497"	"KIF7"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"Orphanet:2754"	"Orphanet:2754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30497"	"KIF7"	"Orphanet:2754"	"Orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]_21633164[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20160"	"2021-09-14"
"GENCC_000110-HGNC_30497-Orphanet_166024-HP_0000007-GENCC_100009"	"HGNC:30497"	"KIF7"	"MONDO:0011778"	"multiple epiphyseal dysplasia, Al-Gazali type"	"Orphanet:166024"	"Orphanet:166024"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30497"	"KIF7"	"Orphanet:166024"	"Multiple epiphyseal dysplasia, Al-Gazali type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22587682[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20160"	"2021-09-14"
"GENCC_000110-HGNC_12580-Orphanet_93100-HP_0000006-GENCC_100009"	"HGNC:12580"	"UPK3A"	"MONDO:0019636"	"renal agenesis, unilateral"	"Orphanet:93100"	"Orphanet:93100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12580"	"UPK3A"	"Orphanet:93100"	"Renal agenesis, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15888565[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20162"	"2021-09-14"
"GENCC_000110-HGNC_23247-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:23247"	"DNAL1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23247"	"DNAL1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20163"	"2021-09-14"
"GENCC_000110-HGNC_21143-Orphanet_2268-HP_0000007-GENCC_100009"	"HGNC:21143"	"ZBTB24"	"MONDO:0000133"	"immunodeficiency-centromeric instability-facial anomalies syndrome"	"Orphanet:2268"	"Orphanet:2268"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21143"	"ZBTB24"	"Orphanet:2268"	"ICF syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21906047[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20164"	"2021-09-14"
"GENCC_000110-HGNC_21957-Orphanet_263516-HP_0000007-GENCC_100009"	"HGNC:21957"	"KCTD7"	"MONDO:0012721"	"progressive myoclonic epilepsy type 3"	"Orphanet:263516"	"Orphanet:263516"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21957"	"KCTD7"	"Orphanet:263516"	"Progressive myoclonic epilepsy type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22693283[PMID]_22748208[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20180"	"2021-09-14"
"GENCC_000110-HGNC_30100-Orphanet_79145-HP_0000006-GENCC_100009"	"HGNC:30100"	"PSENEN"	"MONDO:0008371"	"Dowling-Degos disease"	"Orphanet:79145"	"Orphanet:79145"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30100"	"PSENEN"	"Orphanet:79145"	"Dowling-Degos disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28287404[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20182"	"2021-09-14"
"GENCC_000110-HGNC_11122-Orphanet_90625-HP_0001417-GENCC_100009"	"HGNC:11122"	"SMPX"	"MONDO:0019586"	"X-linked nonsyndromic hearing loss"	"Orphanet:90625"	"Orphanet:90625"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11122"	"SMPX"	"Orphanet:90625"	"X-linked non-syndromic sensorineural deafness type DFN"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301607[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20202"	"2021-09-14"
"GENCC_000110-HGNC_21022-Orphanet_99853-HP_0000007-GENCC_100009"	"HGNC:21022"	"AARS2"	"MONDO:0020506"	"ovarioleukodystrophy"	"Orphanet:99853"	"Orphanet:99853"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21022"	"AARS2"	"Orphanet:99853"	"Ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24808023[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20267"	"2021-09-14"
"GENCC_000110-HGNC_21022-Orphanet_313808-HP_0000006-GENCC_100009"	"HGNC:21022"	"AARS2"	"MONDO:0009096"	"hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"	"Orphanet:313808"	"Orphanet:313808"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21022"	"AARS2"	"Orphanet:313808"	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27749956[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20267"	"2021-09-14"
"GENCC_000110-HGNC_21022-Orphanet_319504-HP_0000007-GENCC_100009"	"HGNC:21022"	"AARS2"	"MONDO:0013570"	"combined oxidative phosphorylation defect type 8"	"Orphanet:319504"	"Orphanet:319504"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21022"	"AARS2"	"Orphanet:319504"	"Combined oxidative phosphorylation defect type 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21549344[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20267"	"2021-09-14"
"GENCC_000110-HGNC_23015-Orphanet_1031-HP_0000007-GENCC_100009"	"HGNC:23015"	"FAM20A"	"MONDO:0008771"	"amelogenesis imperfecta type 1G"	"Orphanet:1031"	"Orphanet:1031"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23015"	"FAM20A"	"Orphanet:1031"	"Enamel-renal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23434854[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20268"	"2021-09-14"
"GENCC_000110-HGNC_4699-Orphanet_263297-HP_0000007-GENCC_100009"	"HGNC:4699"	"GYG1"	"MONDO:0013291"	"glycogen storage disease XV"	"Orphanet:263297"	"Orphanet:263297"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4699"	"GYG1"	"Orphanet:263297"	"Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20357282[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20269"	"2021-09-14"
"GENCC_000110-HGNC_4699-Orphanet_456369-HP_0000007-GENCC_100009"	"HGNC:4699"	"GYG1"	"MONDO:0014526"	"polyglucosan body myopathy type 2"	"Orphanet:456369"	"Orphanet:456369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4699"	"GYG1"	"Orphanet:456369"	"Polyglucosan body myopathy type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25272951[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20269"	"2021-09-14"
"GENCC_000110-HGNC_14857-Orphanet_263487-HP_0000007-GENCC_100009"	"HGNC:14857"	"COG5"	"MONDO:0013325"	"COG5-congenital disorder of glycosylation"	"Orphanet:263487"	"Orphanet:263487"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14857"	"COG5"	"Orphanet:263487"	"COG5-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20270"	"2021-09-14"
"GENCC_000110-HGNC_3007-Orphanet_263494-HP_0000007-GENCC_100009"	"HGNC:3007"	"DPM3"	"MONDO:0013049"	"DPM3-congenital disorder of glycosylation"	"Orphanet:263494"	"Orphanet:263494"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3007"	"DPM3"	"Orphanet:263494"	"DPM3-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20271"	"2021-09-14"
"GENCC_000110-HGNC_18620-Orphanet_85172-HP_0000007-GENCC_100009"	"HGNC:18620"	"COG4"	"MONDO:0019407"	"microcephalic osteodysplastic dysplasia, Saul-Wilson type"	"Orphanet:85172"	"Orphanet:85172"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18620"	"COG4"	"Orphanet:85172"	"Microcephalic osteodysplastic dysplasia, Saul-Wilson type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30290151[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20272"	"2021-09-14"
"GENCC_000110-HGNC_18620-Orphanet_263501-HP_0000007-GENCC_100009"	"HGNC:18620"	"COG4"	"MONDO:0013281"	"COG4-congenital disorder of glycosylation"	"Orphanet:263501"	"Orphanet:263501"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18620"	"COG4"	"Orphanet:263501"	"COG4-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20272"	"2021-09-14"
"GENCC_000110-HGNC_14154-Orphanet_535453-HP_0000007-GENCC_100009"	"HGNC:14154"	"LMF1"	"MONDO:0009527"	"lipase deficiency, combined"	"Orphanet:535453"	"Orphanet:535453"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14154"	"LMF1"	"Orphanet:535453"	"Familial lipase maturation factor 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25732519[PMID]_29980054[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20277"	"2021-09-14"
"GENCC_000110-HGNC_29669-Orphanet_1515-HP_0000007-GENCC_100009"	"HGNC:29669"	"IFT43"	"MONDO:0009032"	"cranioectodermal dysplasia"	"Orphanet:1515"	"Orphanet:1515"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29669"	"IFT43"	"Orphanet:1515"	"Cranioectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791528[PMID]_24027799[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20278"	"2021-09-14"
"GENCC_000110-HGNC_5716-Orphanet_183675-HP_0000005-GENCC_100009"	"HGNC:5716"	"IGKC"	"MONDO:0013576"	"recurrent infections associated with rare immunoglobulin isotypes deficiency"	"Orphanet:183675"	"Orphanet:183675"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:5716"	"IGKC"	"Orphanet:183675"	"Recurrent infections associated with rare immunoglobulin isotypes deficiency"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20279"	"2021-09-14"
"GENCC_000110-HGNC_30794-Orphanet_1052-HP_0000006-GENCC_100009"	"HGNC:30794"	"CEP57"	"MONDO:0000141"	"mosaic variegated aneuploidy syndrome"	"Orphanet:1052"	"Orphanet:1052"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30794"	"CEP57"	"Orphanet:1052"	"Mosaic variegated aneuploidy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21552266[PMID]_24259107[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20281"	"2021-09-14"
"GENCC_000110-HGNC_2976-Orphanet_314404-HP_0000006-GENCC_100009"	"HGNC:2976"	"DNMT1"	"MONDO:0011397"	"autosomal dominant cerebellar ataxia, deafness and narcolepsy"	"Orphanet:314404"	"Orphanet:314404"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2976"	"DNMT1"	"Orphanet:314404"	"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22328086[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20282"	"2021-09-14"
"GENCC_000110-HGNC_2976-Orphanet_456318-HP_0000006-GENCC_100009"	"HGNC:2976"	"DNMT1"	"MONDO:0013584"	"hereditary sensory neuropathy-deafness-dementia syndrome"	"Orphanet:456318"	"Orphanet:456318"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2976"	"DNMT1"	"Orphanet:456318"	"Hereditary sensory neuropathy-deafness-dementia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21532572[PMID]_23365052[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20282"	"2021-09-14"
"GENCC_000110-HGNC_7599-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:7599"	"MYO1E"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7599"	"MYO1E"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21756023[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20283"	"2021-09-14"
"GENCC_000110-HGNC_4092-Orphanet_210141-HP_0000007-GENCC_100009"	"HGNC:4092"	"GAD1"	"MONDO:0016215"	"spastic quadriplegic cerebral palsy"	"Orphanet:210141"	"Orphanet:210141"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4092"	"GAD1"	"Orphanet:210141"	"Inherited congenital spastic tetraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15571623[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20284"	"2021-09-14"
"GENCC_000110-HGNC_573-Orphanet_280763-HP_0000007-GENCC_100009"	"HGNC:573"	"AP4E1"	"MONDO:0017241"	"AP4-related intellectual disability and spastic paraplegia"	"Orphanet:280763"	"Orphanet:280763"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:573"	"AP4E1"	"Orphanet:280763"	"Severe intellectual disability and progressive spastic paraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20972249[PMID]_21620353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20285"	"2021-09-14"
"GENCC_000110-HGNC_572-Orphanet_280763-HP_0000007-GENCC_100009"	"HGNC:572"	"AP4B1"	"MONDO:0017241"	"AP4-related intellectual disability and spastic paraplegia"	"Orphanet:280763"	"Orphanet:280763"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:572"	"AP4B1"	"Orphanet:280763"	"Severe intellectual disability and progressive spastic paraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22290197[PMID]_21620353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20286"	"2021-09-14"
"GENCC_000110-HGNC_575-Orphanet_280763-HP_0000007-GENCC_100009"	"HGNC:575"	"AP4S1"	"MONDO:0017241"	"AP4-related intellectual disability and spastic paraplegia"	"Orphanet:280763"	"Orphanet:280763"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:575"	"AP4S1"	"Orphanet:280763"	"Severe intellectual disability and progressive spastic paraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21620353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20287"	"2021-09-14"
"GENCC_000110-HGNC_9142-Orphanet_990-HP_0000006-GENCC_100009"	"HGNC:9142"	"PRRX1"	"MONDO:0008740"	"agnathia-otocephaly complex"	"Orphanet:990"	"Orphanet:990"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9142"	"PRRX1"	"Orphanet:990"	"Agnathia-holoprosencephaly-situs inversus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21294718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20288"	"2021-09-14"
"GENCC_000110-HGNC_18183-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:18183"	"GIPC3"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18183"	"GIPC3"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20289"	"2021-09-14"
"GENCC_000110-HGNC_9349-Orphanet_90354-HP_0000007-GENCC_100009"	"HGNC:9349"	"PRDM5"	"MONDO:0009242"	"brittle cornea syndrome"	"Orphanet:90354"	"Orphanet:90354"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9349"	"PRDM5"	"Orphanet:90354"	"Brittle cornea syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21664999[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20290"	"2021-09-14"
"GENCC_000110-HGNC_14673-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:14673"	"FYCO1"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14673"	"FYCO1"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21636066[PMID]_24384146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20291"	"2021-09-14"
"GENCC_000110-HGNC_14673-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:14673"	"FYCO1"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14673"	"FYCO1"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26622071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20291"	"2021-09-14"
"GENCC_000110-HGNC_24123-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:24123"	"B9D1"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24123"	"B9D1"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21493627[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20293"	"2021-09-14"
"GENCC_000110-HGNC_24123-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:24123"	"B9D1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24123"	"B9D1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24886560[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20293"	"2021-09-14"
"GENCC_000110-HGNC_29174-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:29174"	"WASHC4"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29174"	"WASHC4"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21498477[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20295"	"2021-09-14"
"GENCC_000110-HGNC_9678-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:9678"	"PTPRO"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9678"	"PTPRO"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21722858[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20296"	"2021-09-14"
"GENCC_000110-HGNC_21528-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:21528"	"DIABLO"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21528"	"DIABLO"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21722859[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20297"	"2021-09-14"
"GENCC_000110-HGNC_25367-Orphanet_2616-HP_0000007-GENCC_100009"	"HGNC:25367"	"CCDC8"	"MONDO:0007477"	"3-M syndrome"	"Orphanet:2616"	"Orphanet:2616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25367"	"CCDC8"	"Orphanet:2616"	"3M syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301654[PMID]_21737058[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20298"	"2021-09-14"
"GENCC_000110-HGNC_29022-Orphanet_1519-HP_0000006-GENCC_100009"	"HGNC:29022"	"SPECC1L"	"MONDO:0007780"	"hypertelorism, Teebi type"	"Orphanet:1519"	"Orphanet:1519"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29022"	"SPECC1L"	"Orphanet:1519"	"SPECC1L-related hypertelorism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26111080[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20299"	"2021-09-14"
"GENCC_000110-HGNC_29022-Orphanet_141276-HP_0000006-GENCC_100009"	"HGNC:29022"	"SPECC1L"	"MONDO:0013300"	"commissural facial cleft"	"Orphanet:141276"	"Orphanet:141276"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29022"	"SPECC1L"	"Orphanet:141276"	"Tessier number 7 facial cleft"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21703590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20299"	"2021-09-14"
"GENCC_000110-HGNC_21316-Orphanet_2332-HP_0000006-GENCC_100009"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG syndrome"	"Orphanet:2332"	"Orphanet:2332"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21316"	"ANKRD11"	"Orphanet:2332"	"KBG syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21782149[PMID]_23184435[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20309"	"2021-09-14"
"GENCC_000110-HGNC_18985-Orphanet_2843-HP_0000007-GENCC_100009"	"HGNC:18985"	"DCXR"	"MONDO:0009846"	"pentosuria"	"Orphanet:2843"	"Orphanet:2843"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18985"	"DCXR"	"Orphanet:2843"	"Pentosuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22042873[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20310"	"2021-09-14"
"GENCC_000110-HGNC_4171-Orphanet_228423-HP_0000006-GENCC_100009"	"HGNC:4171"	"GATA2"	"MONDO:0013607"	"monocytopenia with susceptibility to infections"	"Orphanet:228423"	"Orphanet:228423"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4171"	"GATA2"	"Orphanet:228423"	"Monocytopenia with susceptibility to infections"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21765025[PMID]_21670465[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20311"	"2021-09-14"
"GENCC_000110-HGNC_26113-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:26113"	"TCTN1"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26113"	"TCTN1"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28631893[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20312"	"2021-09-14"
"GENCC_000110-HGNC_26113-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:26113"	"TCTN1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26113"	"TCTN1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21725307[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20312"	"2021-09-14"
"GENCC_000110-HGNC_6816-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:6816"	"MAK"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6816"	"MAK"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20313"	"2021-09-14"
"GENCC_000110-HGNC_31928-Orphanet_721-HP_0000006-GENCC_100009"	"HGNC:31928"	"NBEAL2"	"MONDO:0007686"	"gray platelet syndrome"	"Orphanet:721"	"Orphanet:721"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:31928"	"NBEAL2"	"Orphanet:721"	"Gray platelet syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21765411[PMID]_21765412[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20394"	"2021-09-14"
"GENCC_000110-HGNC_19189-Orphanet_974-HP_0000006-GENCC_100009"	"HGNC:19189"	"DOCK6"	"MONDO:0007034"	"Adams-Oliver syndrome"	"Orphanet:974"	"Orphanet:974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19189"	"DOCK6"	"Orphanet:974"	"Adams-Oliver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21820096[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20395"	"2021-09-14"
"GENCC_000110-HGNC_4223-Orphanet_275534-HP_0000007-GENCC_100009"	"HGNC:4223"	"MSTN"	"MONDO:0013598"	"myostatin-related muscle hypertrophy"	"Orphanet:275534"	"Orphanet:275534"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4223"	"MSTN"	"Orphanet:275534"	"Myostatin-related muscle hypertrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301671[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20396"	"2021-09-14"
"GENCC_000110-HGNC_16255-Orphanet_276193-HP_0000006-GENCC_100009"	"HGNC:16255"	"TGM6"	"MONDO:0013485"	"spinocerebellar ataxia type 35"	"Orphanet:276193"	"Orphanet:276193"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16255"	"TGM6"	"Orphanet:276193"	"Spinocerebellar ataxia type 35"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20397"	"2021-09-14"
"GENCC_000110-HGNC_15911-Orphanet_276198-HP_0000006-GENCC_100009"	"HGNC:15911"	"NOP56"	"MONDO:0013594"	"spinocerebellar ataxia type 36"	"Orphanet:276198"	"Orphanet:276198"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15911"	"NOP56"	"Orphanet:276198"	"Spinocerebellar ataxia type 36"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20398"	"2021-09-14"
"GENCC_000110-HGNC_17116-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:17116"	"CATSPER1"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17116"	"CATSPER1"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19344877[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20399"	"2021-09-14"
"GENCC_000110-HGNC_28636-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:28636"	"B9D2"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28636"	"B9D2"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21763481[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20400"	"2021-09-14"
"GENCC_000110-HGNC_6823-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:6823"	"MAN1B1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6823"	"MAN1B1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21763484[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20401"	"2021-09-14"
"GENCC_000110-HGNC_6823-Orphanet_397941-HP_0000007-GENCC_100009"	"HGNC:6823"	"MAN1B1"	"MONDO:0018349"	"MAN1B1-congenital disorder of glycosylation"	"Orphanet:397941"	"Orphanet:397941"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6823"	"MAN1B1"	"Orphanet:397941"	"MAN1B1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24348268[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20401"	"2021-09-14"
"GENCC_000110-HGNC_2372-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:2372"	"MED23"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2372"	"MED23"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21868677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20402"	"2021-09-14"
"GENCC_000110-HGNC_888-Orphanet_970-HP_0000007-GENCC_100009"	"HGNC:888"	"KIF1A"	"MONDO:0019941"	"hereditary sensory and autonomic neuropathy type 2"	"Orphanet:970"	"Orphanet:970"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:888"	"KIF1A"	"Orphanet:970"	"Hereditary sensory and autonomic neuropathy type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21089229[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20403"	"2021-09-14"
"GENCC_000110-HGNC_888-Orphanet_2836-HP_0000006-GENCC_100009"	"HGNC:888"	"KIF1A"	"MONDO:0009841"	"PEHO syndrome"	"Orphanet:2836"	"Orphanet:2836"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:888"	"KIF1A"	"Orphanet:2836"	"PEHO syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26486474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20403"	"2021-09-14"
"GENCC_000110-HGNC_888-Orphanet_101010-HP_0000006-GENCC_100009"	"HGNC:888"	"KIF1A"	"MONDO:0012476"	"hereditary spastic paraplegia 30"	"Orphanet:101010"	"Orphanet:101010"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:888"	"KIF1A"	"Orphanet:101010"	"Autosomal spastic paraplegia type 30"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22258533[PMID]_26410750[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20403"	"2021-09-14"
"GENCC_000110-HGNC_888-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:888"	"KIF1A"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:888"	"KIF1A"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21376300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20403"	"2021-09-14"
"GENCC_000110-HGNC_17104-Orphanet_95496-HP_0000006-GENCC_100009"	"HGNC:17104"	"CDON"	"MONDO:0019828"	"pituitary stalk interruption syndrome"	"Orphanet:95496"	"Orphanet:95496"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17104"	"CDON"	"Orphanet:95496"	"Pituitary stalk interruption syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26529631[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20404"	"2021-09-14"
"GENCC_000110-HGNC_16235-Orphanet_228343-HP_0000006-GENCC_100009"	"HGNC:16235"	"DNAJC5"	"MONDO:0008083"	"ceroid lipofuscinosis, neuronal, 4 (Kufs type)"	"Orphanet:228343"	"Orphanet:228343"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16235"	"DNAJC5"	"Orphanet:228343"	"CLN4B disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21820099[PMID]_22235333[PMID]_22978711[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20405"	"2021-09-14"
"GENCC_000110-HGNC_2602-Orphanet_300547-HP_0000007-GENCC_100009"	"HGNC:2602"	"CYP24A1"	"MONDO:0007749"	"autosomal recessive infantile hypercalcemia"	"Orphanet:300547"	"Orphanet:300547"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2602"	"CYP24A1"	"Orphanet:300547"	"Autosomal recessive infantile hypercalcemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21675912[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20406"	"2021-09-14"
"GENCC_000110-HGNC_32456-Orphanet_280071-HP_0000007-GENCC_100009"	"HGNC:32456"	"ALG11"	"MONDO:0013349"	"ALG11-congenital disorder of glycosylation"	"Orphanet:280071"	"Orphanet:280071"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:32456"	"ALG11"	"Orphanet:280071"	"ALG11-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20080937[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20426"	"2021-09-14"
"GENCC_000110-HGNC_16257-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:16257"	"TUBB1"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16257"	"TUBB1"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18849486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20427"	"2021-09-14"
"GENCC_000110-HGNC_11280-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:11280"	"SQSTM1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11280"	"SQSTM1"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23303844[PMID]_24138988[PMID]_22084127[PMID]_24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20429"	"2021-09-14"
"GENCC_000110-HGNC_11280-Orphanet_275864-HP_0000006-GENCC_100009"	"HGNC:11280"	"SQSTM1"	"MONDO:0017160"	"behavioral variant of frontotemporal dementia"	"Orphanet:275864"	"Orphanet:275864"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11280"	"SQSTM1"	"Orphanet:275864"	"Behavioral variant of frontotemporal dementia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24042580[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20429"	"2021-09-14"
"GENCC_000110-HGNC_11280-Orphanet_275872-HP_0000006-GENCC_100009"	"HGNC:11280"	"SQSTM1"	"MONDO:0017161"	"frontotemporal dementia with motor neuron disease"	"Orphanet:275872"	"Orphanet:275872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11280"	"SQSTM1"	"Orphanet:275872"	"Frontotemporal dementia with motor neuron disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24042580[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20429"	"2021-09-14"
"GENCC_000110-HGNC_6524-Orphanet_280142-HP_0000007-GENCC_100009"	"HGNC:6524"	"LCK"	"MONDO:0014334"	"severe combined immunodeficiency due to LCK deficiency"	"Orphanet:280142"	"Orphanet:280142"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6524"	"LCK"	"Orphanet:280142"	"Severe combined immunodeficiency due to LCK deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20432"	"2021-09-14"
"GENCC_000110-HGNC_16692-Orphanet_280183-HP_0000007-GENCC_100009"	"HGNC:16692"	"CD320"	"MONDO:0013341"	"methylmalonic acidemia due to transcobalamin receptor defect"	"Orphanet:280183"	"Orphanet:280183"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16692"	"CD320"	"Orphanet:280183"	"Methylmalonic aciduria due to transcobalamin receptor defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20524213[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20434"	"2021-09-14"
"GENCC_000110-HGNC_2666-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:2666"	"DAG1"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2666"	"DAG1"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25934851[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20457"	"2021-09-14"
"GENCC_000110-HGNC_2666-Orphanet_280333-HP_0000007-GENCC_100009"	"HGNC:2666"	"DAG1"	"MONDO:0013440"	"autosomal recessive limb-girdle muscular dystrophy type 2P"	"Orphanet:280333"	"Orphanet:280333"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2666"	"DAG1"	"Orphanet:280333"	"Alpha-dystroglycan-related limb-girdle muscular dystrophy R16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14678799[PMID]_21388311[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20457"	"2021-09-14"
"GENCC_000110-HGNC_9076-Orphanet_280356-HP_0000006-GENCC_100009"	"HGNC:9076"	"PLIN1"	"MONDO:0013478"	"PLIN1-related familial partial lipodystrophy"	"Orphanet:280356"	"Orphanet:280356"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9076"	"PLIN1"	"Orphanet:280356"	"PLIN1-related familial partial lipodystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21345103[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20459"	"2021-09-14"
"GENCC_000110-HGNC_1356-Orphanet_209951-HP_0000007-GENCC_100009"	"HGNC:1356"	"ERLIN2"	"MONDO:0012639"	"hereditary spastic paraplegia 18"	"Orphanet:209951"	"Orphanet:209951"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1356"	"ERLIN2"	"Orphanet:209951"	"Autosomal recessive spastic paraplegia type 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21330303[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20466"	"2021-09-14"
"GENCC_000110-HGNC_1356-Orphanet_247604-HP_0000007-GENCC_100009"	"HGNC:1356"	"ERLIN2"	"MONDO:0011663"	"juvenile primary lateral sclerosis"	"Orphanet:247604"	"Orphanet:247604"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1356"	"ERLIN2"	"Orphanet:247604"	"Juvenile primary lateral sclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23109145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20466"	"2021-09-14"
"GENCC_000110-HGNC_1356-Orphanet_280384-HP_0000007-GENCC_100009"	"HGNC:1356"	"ERLIN2"	"MONDO:0017232"	"recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"	"Orphanet:280384"	"Orphanet:280384"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1356"	"ERLIN2"	"Orphanet:280384"	"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21330303[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20466"	"2021-09-14"
"GENCC_000110-HGNC_20233-Orphanet_280406-HP_0000007-GENCC_100009"	"HGNC:20233"	"COQ6"	"MONDO:0013836"	"familial steroid-resistant nephrotic syndrome with sensorineural deafness"	"Orphanet:280406"	"Orphanet:280406"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20233"	"COQ6"	"Orphanet:280406"	"Familial steroid-resistant nephrotic syndrome with sensorineural deafness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21540551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20471"	"2021-09-14"
"GENCC_000110-HGNC_2736-Orphanet_280558-HP_0000006-GENCC_100009"	"HGNC:2736"	"DDX11"	"MONDO:0013252"	"Warsaw breakage syndrome"	"Orphanet:280558"	"Orphanet:280558"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2736"	"DDX11"	"Orphanet:280558"	"Warsaw breakage syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23033317[PMID]_20137776[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20474"	"2021-09-14"
"GENCC_000110-HGNC_17397-Orphanet_280576-HP_0000007-GENCC_100009"	"HGNC:17397"	"BANF1"	"MONDO:0013523"	"Nestor-Guillermo progeria syndrome"	"Orphanet:280576"	"Orphanet:280576"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17397"	"BANF1"	"Orphanet:280576"	"Nestor-Guillermo progeria syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21549337[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20477"	"2021-09-14"
"GENCC_000110-HGNC_26019-Orphanet_280586-HP_0000007-GENCC_100009"	"HGNC:26019"	"BPNT2"	"MONDO:0013561"	"chondrodysplasia with joint dislocations, gPAPP type"	"Orphanet:280586"	"Orphanet:280586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26019"	"BPNT2"	"Orphanet:280586"	"Chondrodysplasia with joint dislocations, gPAPP type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21549340[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20479"	"2021-09-14"
"GENCC_000110-HGNC_4431-Orphanet_280620-HP_0000007-GENCC_100009"	"HGNC:4431"	"GOSR2"	"MONDO:0013526"	"progressive myoclonic epilepsy type 6"	"Orphanet:280620"	"Orphanet:280620"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4431"	"GOSR2"	"Orphanet:280620"	"Progressive myoclonic epilepsy type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21549339[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20483"	"2021-09-14"
"GENCC_000110-HGNC_8967-Orphanet_2059-HP_0000007-GENCC_100009"	"HGNC:8967"	"PIGN"	"MONDO:0009253"	"Fryns syndrome"	"Orphanet:2059"	"Orphanet:2059"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8967"	"PIGN"	"Orphanet:2059"	"Fryns syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27038415[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20487"	"2021-09-14"
"GENCC_000110-HGNC_8967-Orphanet_280633-HP_0000007-GENCC_100009"	"HGNC:8967"	"PIGN"	"MONDO:0013563"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"Orphanet:280633"	"Orphanet:280633"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8967"	"PIGN"	"Orphanet:280633"	"Multiple congenital anomalies-hypotonia-seizures syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21493957[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20487"	"2021-09-14"
"GENCC_000110-HGNC_6494-Orphanet_280640-HP_0000007-GENCC_100009"	"HGNC:6494"	"LAMC3"	"MONDO:0013583"	"occipital pachygyria and polymicrogyria"	"Orphanet:280640"	"Orphanet:280640"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6494"	"LAMC3"	"Orphanet:280640"	"Occipital pachygyria and polymicrogyria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21572413[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20489"	"2021-09-14"
"GENCC_000110-HGNC_8549-Orphanet_280663-HP_0000007-GENCC_100009"	"HGNC:8549"	"BLOC1S6"	"MONDO:0013606"	"Hermansky-Pudlak syndrome 9"	"Orphanet:280663"	"Orphanet:280663"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8549"	"BLOC1S6"	"Orphanet:280663"	"Hermansky-Pudlak syndrome type 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21665000[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20494"	"2021-09-14"
"GENCC_000110-HGNC_1938-Orphanet_280671-HP_0000007-GENCC_100009"	"HGNC:1938"	"CHKB"	"MONDO:0011246"	"megaconial type congenital muscular dystrophy"	"Orphanet:280671"	"Orphanet:280671"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1938"	"CHKB"	"Orphanet:280671"	"Megaconial congenital muscular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21665002[PMID]_22782513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20496"	"2021-09-14"
"GENCC_000110-HGNC_12509-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:12509"	"UBQLN2"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12509"	"UBQLN2"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20541"	"2021-09-14"
"GENCC_000110-HGNC_20330-Orphanet_281201-HP_0000007-GENCC_100009"	"HGNC:20330"	"POMP"	"MONDO:0011169"	"keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"	"Orphanet:281201"	"Orphanet:281201"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20330"	"POMP"	"Orphanet:281201"	"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20226437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20542"	"2021-09-14"
"GENCC_000110-HGNC_15561-Orphanet_163927-HP_0000006-GENCC_100009"	"HGNC:15561"	"IL36RN"	"MONDO:0015597"	"pustulosis palmaris et plantaris"	"Orphanet:163927"	"Orphanet:163927"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15561"	"IL36RN"	"Orphanet:163927"	"Pustulosis palmaris et plantaris"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23303454[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20543"	"2021-09-14"
"GENCC_000110-HGNC_15561-Orphanet_163931-HP_0000007-GENCC_100009"	"HGNC:15561"	"IL36RN"	"MONDO:0013626"	"psoriasis 14, pustular"	"Orphanet:163931"	"Orphanet:163931"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15561"	"IL36RN"	"Orphanet:163931"	"Acrodermatitis continua of Hallopeau"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23303454[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20543"	"2021-09-14"
"GENCC_000110-HGNC_15561-Orphanet_247353-HP_0000007-GENCC_100009"	"HGNC:15561"	"IL36RN"	"MONDO:0013626"	"psoriasis 14, pustular"	"Orphanet:247353"	"Orphanet:247353"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15561"	"IL36RN"	"Orphanet:247353"	"Generalized pustular psoriasis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21839423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20543"	"2021-09-14"
"GENCC_000110-HGNC_15561-Orphanet_404546-HP_0000007-GENCC_100009"	"HGNC:15561"	"IL36RN"	"MONDO:0013626"	"psoriasis 14, pustular"	"Orphanet:404546"	"Orphanet:404546"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15561"	"IL36RN"	"Orphanet:404546"	"DITRA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24131530[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20543"	"2021-09-14"
"GENCC_000110-HGNC_391-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:391"	"AKT1"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:391"	"AKT1"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23246288[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20544"	"2021-09-14"
"GENCC_000110-HGNC_18318-Orphanet_97297-HP_0000006-GENCC_100009"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"Orphanet:97297"	"Orphanet:97297"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18318"	"ASXL1"	"Orphanet:97297"	"Bohring-Opitz syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21706002[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20545"	"2021-09-14"
"GENCC_000110-HGNC_5201-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:5201"	"HS6ST1"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5201"	"HS6ST1"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21700882[PMID]_23997646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20546"	"2021-09-14"
"GENCC_000110-HGNC_5201-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:5201"	"HS6ST1"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5201"	"HS6ST1"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21700882[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20546"	"2021-09-14"
"GENCC_000110-HGNC_17619-Orphanet_2177-HP_0000007-GENCC_100009"	"HGNC:17619"	"NDE1"	"MONDO:0016344"	"hydranencephaly"	"Orphanet:2177"	"Orphanet:2177"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17619"	"NDE1"	"Orphanet:2177"	"Hydranencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22526350[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20548"	"2021-09-14"
"GENCC_000110-HGNC_17619-Orphanet_1083-HP_0000007-GENCC_100009"	"HGNC:17619"	"NDE1"	"MONDO:0015204"	"microlissencephaly"	"Orphanet:1083"	"Orphanet:1083"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17619"	"NDE1"	"Orphanet:1083"	"Microlissencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21529751[PMID]_21529752[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20548"	"2021-09-14"
"GENCC_000110-HGNC_17619-Orphanet_443162-HP_0000007-GENCC_100009"	"HGNC:17619"	"NDE1"	"MONDO:0011504"	"NDE1-related microhydranencephaly"	"Orphanet:443162"	"Orphanet:443162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17619"	"NDE1"	"Orphanet:443162"	"NDE1-related microhydranencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22526350[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20548"	"2021-09-14"
"GENCC_000110-HGNC_1062-Orphanet_276405-HP_0000006-GENCC_100009"	"HGNC:1062"	"BLVRA"	"MONDO:0013595"	"hyperbiliverdinemia"	"Orphanet:276405"	"Orphanet:276405"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1062"	"BLVRA"	"Orphanet:276405"	"Hyperbiliverdinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21278388[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20549"	"2021-09-14"
"GENCC_000110-HGNC_18704-Orphanet_568-HP_0001417-GENCC_100009"	"HGNC:18704"	"NAA10"	"MONDO:0018924"	"microphthalmia, Lenz type"	"Orphanet:568"	"Orphanet:568"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18704"	"NAA10"	"Orphanet:568"	"Microphthalmia, Lenz type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24431331[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20550"	"2021-09-14"
"GENCC_000110-HGNC_18704-Orphanet_276432-HP_0001417-GENCC_100009"	"HGNC:18704"	"NAA10"	"MONDO:0010457"	"Ogden syndrome"	"Orphanet:276432"	"Orphanet:276432"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:18704"	"NAA10"	"Orphanet:276432"	"Ogden syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21700266[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20550"	"2021-09-14"
"GENCC_000110-HGNC_4829-Orphanet_231237-HP_0000007-GENCC_100009"	"HGNC:4829"	"HBD"	"MONDO:0016489"	"delta-beta-thalassemia"	"Orphanet:231237"	"Orphanet:231237"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4829"	"HBD"	"Orphanet:231237"	"Delta-beta-thalassemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1301204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20551"	"2021-09-14"
"GENCC_000110-HGNC_7865-Orphanet_101063-HP_0000006-GENCC_100009"	"HGNC:7865"	"NODAL"	"MONDO:0010029"	"situs inversus"	"Orphanet:101063"	"Orphanet:101063"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7865"	"NODAL"	"Orphanet:101063"	"Situs inversus totalis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19064609[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20553"	"2021-09-14"
"GENCC_000110-HGNC_2908-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:2908"	"DLL1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2908"	"DLL1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31353024[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20554"	"2021-09-14"
"GENCC_000110-HGNC_4584-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:4584"	"GRIN1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4584"	"GRIN1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21376300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20558"	"2021-09-14"
"GENCC_000110-HGNC_6176-Orphanet_457375-HP_0000007-GENCC_100009"	"HGNC:6176"	"ITPA"	"MONDO:0014719"	"developmental and epileptic encephalopathy, 35"	"Orphanet:457375"	"Orphanet:457375"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6176"	"ITPA"	"Orphanet:457375"	"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26224535[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20572"	"2021-09-14"
"GENCC_000110-HGNC_923-Orphanet_284139-HP_0000007-GENCC_100009"	"HGNC:923"	"B3GAT3"	"MONDO:0009511"	"Larsen-like syndrome, B3GAT3 type"	"Orphanet:284139"	"Orphanet:284139"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:923"	"B3GAT3"	"Orphanet:284139"	"Larsen-like syndrome, B3GAT3 type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21763480[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20577"	"2021-09-14"
"GENCC_000110-HGNC_5967-Orphanet_284149-HP_0000007-GENCC_100009"	"HGNC:5967"	"IL11RA"	"MONDO:0013615"	"craniosynostosis and dental anomalies"	"Orphanet:284149"	"Orphanet:284149"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5967"	"IL11RA"	"Orphanet:284149"	"Craniosynostosis-dental anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21741611[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20579"	"2021-09-14"
"GENCC_000110-HGNC_2961-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:2961"	"DYNC1H1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2961"	"DYNC1H1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22368300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20586"	"2021-09-14"
"GENCC_000110-HGNC_2961-Orphanet_209341-HP_0000006-GENCC_100009"	"HGNC:2961"	"DYNC1H1"	"MONDO:0008026"	"autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures"	"Orphanet:209341"	"Orphanet:209341"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2961"	"DYNC1H1"	"Orphanet:209341"	"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22459677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20586"	"2021-09-14"
"GENCC_000110-HGNC_2961-Orphanet_284232-HP_0000006-GENCC_100009"	"HGNC:2961"	"DYNC1H1"	"MONDO:0013644"	"Charcot-Marie-Tooth disease axonal type 2O"	"Orphanet:284232"	"Orphanet:284232"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2961"	"DYNC1H1"	"Orphanet:284232"	"Autosomal dominant Charcot-Marie-Tooth disease type 2O"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]_21820100[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20586"	"2021-09-14"
"GENCC_000110-HGNC_5476-Orphanet_284247-HP_0000007-GENCC_100009"	"HGNC:5476"	"IGFBP7"	"MONDO:0013640"	"familial retinal arterial macroaneurysm"	"Orphanet:284247"	"Orphanet:284247"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5476"	"IGFBP7"	"Orphanet:284247"	"Familial retinal arterial macroaneurysm"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21835307[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20588"	"2021-09-14"
"GENCC_000110-HGNC_23143-Orphanet_284271-HP_0000007-GENCC_100009"	"HGNC:23143"	"SYT14"	"MONDO:0013645"	"autosomal recessive spinocerebellar ataxia 11"	"Orphanet:284271"	"Orphanet:284271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23143"	"SYT14"	"Orphanet:284271"	"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21835308[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20591"	"2021-09-14"
"GENCC_000110-HGNC_25519-Orphanet_284289-HP_0000007-GENCC_100009"	"HGNC:25519"	"ANO10"	"MONDO:0013392"	"autosomal recessive spinocerebellar ataxia 10"	"Orphanet:284289"	"Orphanet:284289"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25519"	"ANO10"	"Orphanet:284289"	"Adult-onset autosomal recessive cerebellar ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21092923[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20594"	"2021-09-14"
"GENCC_000110-HGNC_13487-Orphanet_411602-HP_0000006-GENCC_100009"	"HGNC:13487"	"VPS35"	"MONDO:0018466"	"hereditary late onset Parkinson disease"	"Orphanet:411602"	"Orphanet:411602"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13487"	"VPS35"	"Orphanet:411602"	"Hereditary late-onset Parkinson disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22166458[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20635"	"2021-09-14"
"GENCC_000110-HGNC_14966-Orphanet_289499-HP_0000007-GENCC_100009"	"HGNC:14966"	"PXDN"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"Orphanet:289499"	"Orphanet:289499"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14966"	"PXDN"	"Orphanet:289499"	"Congenital cataract microcornea with corneal opacity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21907015[PMID]_24939590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20636"	"2021-09-14"
"GENCC_000110-HGNC_30074-Orphanet_3455-HP_0000007-GENCC_100009"	"HGNC:30074"	"POLR3A"	"MONDO:0009910"	"Wiedemann-Rautenstrauch syndrome"	"Orphanet:3455"	"Orphanet:3455"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30074"	"POLR3A"	"Orphanet:3455"	"Wiedemann-Rautenstrauch syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30323018[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20641"	"2021-09-14"
"GENCC_000110-HGNC_30074-Orphanet_77295-HP_0000007-GENCC_100009"	"HGNC:30074"	"POLR3A"	"MONDO:0019177"	"odontoleukodystrophy"	"Orphanet:77295"	"Orphanet:77295"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30074"	"POLR3A"	"Orphanet:77295"	"Odontoleukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21855841[PMID]_22855961[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20641"	"2021-09-14"
"GENCC_000110-HGNC_30074-Orphanet_88637-HP_0000007-GENCC_100009"	"HGNC:30074"	"POLR3A"	"MONDO:0019505"	"hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"	"Orphanet:88637"	"Orphanet:88637"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30074"	"POLR3A"	"Orphanet:88637"	"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21855841[PMID]_22855961[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20641"	"2021-09-14"
"GENCC_000110-HGNC_30074-Orphanet_137639-HP_0000007-GENCC_100009"	"HGNC:30074"	"POLR3A"	"MONDO:0011897"	"leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome"	"Orphanet:137639"	"Orphanet:137639"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30074"	"POLR3A"	"Orphanet:137639"	"Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27506977[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20641"	"2021-09-14"
"GENCC_000110-HGNC_30074-Orphanet_447893-HP_0000007-GENCC_100009"	"HGNC:30074"	"POLR3A"	"MONDO:0018655"	"hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"	"Orphanet:447893"	"Orphanet:447893"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30074"	"POLR3A"	"Orphanet:447893"	"Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22036171[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20641"	"2021-09-14"
"GENCC_000110-HGNC_30074-Orphanet_447896-HP_0000007-GENCC_100009"	"HGNC:30074"	"POLR3A"	"MONDO:0018656"	"tremor-ataxia-central hypomyelination syndrome"	"Orphanet:447896"	"Orphanet:447896"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30074"	"POLR3A"	"Orphanet:447896"	"Tremor-ataxia-central hypomyelination syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20640464[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20641"	"2021-09-14"
"GENCC_000110-HGNC_30348-Orphanet_85186-HP_0000007-GENCC_100009"	"HGNC:30348"	"POLR3B"	"MONDO:0008940"	"endosteal sclerosis-cerebellar hypoplasia syndrome"	"Orphanet:85186"	"Orphanet:85186"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30348"	"POLR3B"	"Orphanet:85186"	"Endosteal sclerosis-cerebellar hypoplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28589944[PMID]_15672385[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20642"	"2021-09-14"
"GENCC_000110-HGNC_30348-Orphanet_88637-HP_0000007-GENCC_100009"	"HGNC:30348"	"POLR3B"	"MONDO:0019505"	"hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"	"Orphanet:88637"	"Orphanet:88637"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30348"	"POLR3B"	"Orphanet:88637"	"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22855961[PMID]_22036172[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20642"	"2021-09-14"
"GENCC_000110-HGNC_17582-Orphanet_3047-HP_0000006-GENCC_100009"	"HGNC:17582"	"KAT6B"	"MONDO:0011365"	"blepharophimosis - intellectual disability syndrome, SBBYS type"	"Orphanet:3047"	"Orphanet:3047"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17582"	"KAT6B"	"Orphanet:3047"	"Blepharophimosis-intellectual disability syndrome, SBBYS type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22715153[PMID]_23236640[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20645"	"2021-09-14"
"GENCC_000110-HGNC_17582-Orphanet_85201-HP_0000006-GENCC_100009"	"HGNC:17582"	"KAT6B"	"MONDO:0011640"	"genitopatellar syndrome"	"Orphanet:85201"	"Orphanet:85201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17582"	"KAT6B"	"Orphanet:85201"	"Genitopatellar syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23236640[PMID]_22265017[PMID]_22265014[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20645"	"2021-09-14"
"GENCC_000110-HGNC_10866-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:10866"	"ST3GAL3"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10866"	"ST3GAL3"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23252400[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20650"	"2021-09-14"
"GENCC_000110-HGNC_10866-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:10866"	"ST3GAL3"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10866"	"ST3GAL3"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21907012[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20650"	"2021-09-14"
"GENCC_000110-HGNC_17928-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:17928"	"PSMC3IP"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17928"	"PSMC3IP"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21963259[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20655"	"2021-09-14"
"GENCC_000110-HGNC_25361-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:25361"	"ARHGAP24"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25361"	"ARHGAP24"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21911940[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20657"	"2021-09-14"
"GENCC_000110-HGNC_20509-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:20509"	"ZC3H14"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20509"	"ZC3H14"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21734151[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20665"	"2021-09-14"
"GENCC_000110-HGNC_18340-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:18340"	"WDR19"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18340"	"WDR19"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22019273[PMID]_22791528[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20667"	"2021-09-14"
"GENCC_000110-HGNC_18340-Orphanet_1515-HP_0000007-GENCC_100009"	"HGNC:18340"	"WDR19"	"MONDO:0009032"	"cranioectodermal dysplasia"	"Orphanet:1515"	"Orphanet:1515"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18340"	"WDR19"	"Orphanet:1515"	"Cranioectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22791528[PMID]_24027799[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20667"	"2021-09-14"
"GENCC_000110-HGNC_18340-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:18340"	"WDR19"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18340"	"WDR19"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23683095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20667"	"2021-09-14"
"GENCC_000110-HGNC_18340-Orphanet_93592-HP_0000007-GENCC_100009"	"HGNC:18340"	"WDR19"	"MONDO:0009728"	"nephronophthisis 1"	"Orphanet:93592"	"Orphanet:93592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18340"	"WDR19"	"Orphanet:93592"	"Juvenile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22019273[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20667"	"2021-09-14"
"GENCC_000110-HGNC_10313-Orphanet_55654-HP_0000006-GENCC_100009"	"HGNC:10313"	"RPL21"	"MONDO:0018914"	"hypotrichosis simplex"	"Orphanet:55654"	"Orphanet:55654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10313"	"RPL21"	"Orphanet:55654"	"Hypotrichosis simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21412954[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20668"	"2021-09-14"
"GENCC_000110-HGNC_10009-Orphanet_71275-HP_0000007-GENCC_100009"	"HGNC:10009"	"RHD"	"MONDO:0019107"	"Rh deficiency syndrome"	"Orphanet:71275"	"Orphanet:71275"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10009"	"RHD"	"Orphanet:71275"	"Rh deficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"9657769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20675"	"2021-09-14"
"GENCC_000110-HGNC_1395-Orphanet_64280-HP_0000006-GENCC_100009"	"HGNC:1395"	"CACNA1H"	"MONDO:0010826"	"childhood absence epilepsy"	"Orphanet:64280"	"Orphanet:64280"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1395"	"CACNA1H"	"Orphanet:64280"	"Childhood absence epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"12891677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20677"	"2021-09-14"
"GENCC_000110-HGNC_21869-Orphanet_1369-HP_0000007-GENCC_100009"	"HGNC:21869"	"AGK"	"MONDO:0008922"	"Sengers syndrome"	"Orphanet:1369"	"Orphanet:1369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21869"	"AGK"	"Orphanet:1369"	"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22284826[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20678"	"2021-09-14"
"GENCC_000110-HGNC_21869-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:21869"	"AGK"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21869"	"AGK"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22415731[PMID]_26622071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20678"	"2021-09-14"
"GENCC_000110-HGNC_4888-Orphanet_93571-HP_0000007-GENCC_100009"	"HGNC:4888"	"CFHR1"	"MONDO:0019736"	"dense deposit disease"	"Orphanet:93571"	"Orphanet:93571"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4888"	"CFHR1"	"Orphanet:93571"	"Dense deposit disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23728178[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20682"	"2021-09-14"
"GENCC_000110-HGNC_18155-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:18155"	"TXNRD2"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18155"	"TXNRD2"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21247928[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20686"	"2021-09-14"
"GENCC_000110-HGNC_18155-Orphanet_361-HP_0000007-GENCC_100009"	"HGNC:18155"	"TXNRD2"	"MONDO:0008733"	"familial glucocorticoid deficiency"	"Orphanet:361"	"Orphanet:361"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18155"	"TXNRD2"	"Orphanet:361"	"Familial glucocorticoid deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24601690[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20686"	"2021-09-14"
"GENCC_000110-HGNC_14432-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:14432"	"TMEM237"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14432"	"TMEM237"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26729329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20689"	"2021-09-14"
"GENCC_000110-HGNC_14432-Orphanet_2318-HP_0000007-GENCC_100009"	"HGNC:14432"	"TMEM237"	"MONDO:0009480"	"Joubert syndrome with oculorenal defect"	"Orphanet:2318"	"Orphanet:2318"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14432"	"TMEM237"	"Orphanet:2318"	"Joubert syndrome with oculorenal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]_22152675[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20689"	"2021-09-14"
"GENCC_000110-HGNC_14432-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:14432"	"TMEM237"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14432"	"TMEM237"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22693042[PMID]_22152675[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20689"	"2021-09-14"
"GENCC_000110-HGNC_14432-Orphanet_220497-HP_0000007-GENCC_100009"	"HGNC:14432"	"TMEM237"	"MONDO:0012308"	"Joubert syndrome with renal defect"	"Orphanet:220497"	"Orphanet:220497"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14432"	"TMEM237"	"Orphanet:220497"	"Joubert syndrome with renal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]_22152675[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20689"	"2021-09-14"
"GENCC_000110-HGNC_6391-Orphanet_93360-HP_0000006-GENCC_100009"	"HGNC:6391"	"KIF22"	"MONDO:0011335"	"spondyloepimetaphyseal dysplasia with multiple dislocations"	"Orphanet:93360"	"Orphanet:93360"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6391"	"KIF22"	"Orphanet:93360"	"Spondyloepimetaphyseal dysplasia with multiple dislocations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22152677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20690"	"2021-09-14"
"GENCC_000110-HGNC_9038-Orphanet_363989-HP_0000007-GENCC_100009"	"HGNC:9038"	"PLA2G5"	"MONDO:0009235"	"familial benign flecked retina"	"Orphanet:363989"	"Orphanet:363989"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9038"	"PLA2G5"	"Orphanet:363989"	"Familial benign flecked retina"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22137173[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20691"	"2021-09-14"
"GENCC_000110-HGNC_1067-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:1067"	"BMP1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1067"	"BMP1"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22052668[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20693"	"2021-09-14"
"GENCC_000110-HGNC_1067-Orphanet_314029-HP_0000006-GENCC_100009"	"HGNC:1067"	"BMP1"	"MONDO:0017791"	"high bone mass osteogenesis imperfecta"	"Orphanet:314029"	"Orphanet:314029"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1067"	"BMP1"	"Orphanet:314029"	"High bone mass osteogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27264419[PMID]_22482805[PMID"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20693"	"2021-09-14"
"GENCC_000110-HGNC_33699-Orphanet_254688-HP_0000007-GENCC_100009"	"HGNC:33699"	"KHDC3L"	"MONDO:0016785"	"complete hydatidiform mole"	"Orphanet:254688"	"Orphanet:254688"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33699"	"KHDC3L"	"Orphanet:254688"	"Complete hydatidiform mole"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21885028[PMID]_24533231[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20694"	"2021-09-14"
"GENCC_000110-HGNC_9921-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:9921"	"RBP3"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9921"	"RBP3"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301590[PMID]_19074801[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20695"	"2021-09-14"
"GENCC_000110-HGNC_4585-Orphanet_1945-HP_0000006-GENCC_100009"	"HGNC:4585"	"GRIN2A"	"MONDO:0007295"	"self-limited epilepsy with centrotemporal spikes"	"Orphanet:1945"	"Orphanet:1945"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4585"	"GRIN2A"	"Orphanet:1945"	"Rolandic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23933819[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20706"	"2021-09-14"
"GENCC_000110-HGNC_4585-Orphanet_725-HP_0000006-GENCC_100009"	"HGNC:4585"	"GRIN2A"	"MONDO:0019123"	"continuous spikes and waves during sleep"	"Orphanet:725"	"Orphanet:725"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4585"	"GRIN2A"	"Orphanet:725"	"Continuous spikes and waves during sleep"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23933820[PMID]_23933819[PMID]_23933818[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20706"	"2021-09-14"
"GENCC_000110-HGNC_4585-Orphanet_98818-HP_0000006-GENCC_100009"	"HGNC:4585"	"GRIN2A"	"MONDO:0009509"	"Landau-Kleffner syndrome"	"Orphanet:98818"	"Orphanet:98818"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4585"	"GRIN2A"	"Orphanet:98818"	"Landau-Kleffner syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23933820[PMID]_23933819[PMID]_23933818[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20706"	"2021-09-14"
"GENCC_000110-HGNC_4585-Orphanet_163721-HP_0000006-GENCC_100009"	"HGNC:4585"	"GRIN2A"	"MONDO:0015587"	"rolandic epilepsy-speech dyspraxia syndrome"	"Orphanet:163721"	"Orphanet:163721"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4585"	"GRIN2A"	"Orphanet:163721"	"Rolandic epilepsy-speech dyspraxia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23933818[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20706"	"2021-09-14"
"GENCC_000110-HGNC_4585-Orphanet_289266-HP_0000006-GENCC_100009"	"HGNC:4585"	"GRIN2A"	"MONDO:0017325"	"early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"	"Orphanet:289266"	"Orphanet:289266"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4585"	"GRIN2A"	"Orphanet:289266"	"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20890276[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20706"	"2021-09-14"
"GENCC_000110-HGNC_257-Orphanet_289290-HP_0000007-GENCC_100009"	"HGNC:257"	"ADK"	"MONDO:0100255"	"adenosine kinase deficiency"	"Orphanet:289290"	"Orphanet:289290"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:257"	"ADK"	"Orphanet:289290"	"Hypermethioninemia encephalopathy due to adenosine kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21963049[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20708"	"2021-09-14"
"GENCC_000110-HGNC_7179-Orphanet_289307-HP_0000007-GENCC_100009"	"HGNC:7179"	"ALDH6A1"	"MONDO:0013579"	"methylmalonate semialdehyde dehydrogenase deficiency"	"Orphanet:289307"	"Orphanet:289307"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7179"	"ALDH6A1"	"Orphanet:289307"	"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21863277[PMID]_10971205[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20710"	"2021-09-14"
"GENCC_000110-HGNC_10250-Orphanet_289365-HP_0000006-GENCC_100009"	"HGNC:10250"	"ROBO2"	"MONDO:0017329"	"familial vesicoureteral reflux"	"Orphanet:289365"	"Orphanet:289365"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10250"	"ROBO2"	"Orphanet:289365"	"Familial vesicoureteral reflux"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17357069[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20716"	"2021-09-14"
"GENCC_000110-HGNC_18122-Orphanet_289365-HP_0000006-GENCC_100009"	"HGNC:18122"	"SOX17"	"MONDO:0017329"	"familial vesicoureteral reflux"	"Orphanet:289365"	"Orphanet:289365"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18122"	"SOX17"	"Orphanet:289365"	"Familial vesicoureteral reflux"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20960469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20717"	"2021-09-14"
"GENCC_000110-HGNC_18398-Orphanet_1658-HP_0000006-GENCC_100009"	"HGNC:18398"	"SMARCAD1"	"MONDO:0007507"	"absence of fingerprints-congenital milia syndrome"	"Orphanet:1658"	"Orphanet:1658"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18398"	"SMARCAD1"	"Orphanet:1658"	"Absence of fingerprints-congenital milia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26932190[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20724"	"2021-09-14"
"GENCC_000110-HGNC_18398-Orphanet_384-HP_0000006-GENCC_100009"	"HGNC:18398"	"SMARCAD1"	"MONDO:0008416"	"palmoplantar keratoderma-sclerodactyly syndrome"	"Orphanet:384"	"Orphanet:384"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18398"	"SMARCAD1"	"Orphanet:384"	"Huriez syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29409814[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20724"	"2021-09-14"
"GENCC_000110-HGNC_18398-Orphanet_289465-HP_0000006-GENCC_100009"	"HGNC:18398"	"SMARCAD1"	"MONDO:0007619"	"isolated congenital adermatoglyphia"	"Orphanet:289465"	"Orphanet:289465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18398"	"SMARCAD1"	"Orphanet:289465"	"Isolated congenital adermatoglyphia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21820097[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20724"	"2021-09-14"
"GENCC_000110-HGNC_27288-Orphanet_289504-HP_0000006-GENCC_100009"	"HGNC:27288"	"ACSF3"	"MONDO:0013661"	"combined malonic and methylmalonic acidemia"	"Orphanet:289504"	"Orphanet:289504"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:27288"	"ACSF3"	"Orphanet:289504"	"Combined malonic and methylmalonic acidemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21841779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20732"	"2021-09-14"
"GENCC_000110-HGNC_18828-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:18828"	"NDUFAF1"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18828"	"NDUFAF1"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17557076[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20736"	"2021-09-14"
"GENCC_000110-HGNC_950-Orphanet_289539-HP_0000006-GENCC_100009"	"HGNC:950"	"BAP1"	"MONDO:0013692"	"BAP1-related tumor predisposition syndrome"	"Orphanet:289539"	"Orphanet:289539"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:950"	"BAP1"	"Orphanet:289539"	"BAP1-related tumor predisposition syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21956388[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20738"	"2021-09-14"
"GENCC_000110-HGNC_16287-Orphanet_401869-HP_0000007-GENCC_100009"	"HGNC:16287"	"NFU1"	"MONDO:0011582"	"multiple mitochondrial dysfunctions syndrome 1"	"Orphanet:401869"	"Orphanet:401869"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16287"	"NFU1"	"Orphanet:401869"	"Multiple mitochondrial dysfunctions syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24334290[PMID]_24777537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20744"	"2021-09-14"
"GENCC_000110-HGNC_24415-Orphanet_401874-HP_0000007-GENCC_100009"	"HGNC:24415"	"BOLA3"	"MONDO:0013675"	"multiple mitochondrial dysfunctions syndrome 2"	"Orphanet:401874"	"Orphanet:401874"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24415"	"BOLA3"	"Orphanet:401874"	"Multiple mitochondrial dysfunctions syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24334290[PMID]_24777537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20745"	"2021-09-14"
"GENCC_000110-HGNC_2481-Orphanet_263534-HP_0000007-GENCC_100009"	"HGNC:2481"	"CSTA"	"MONDO:0012345"	"acral peeling skin syndrome"	"Orphanet:263534"	"Orphanet:263534"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2481"	"CSTA"	"Orphanet:263534"	"Acral peeling skin syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26684698[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20747"	"2021-09-14"
"GENCC_000110-HGNC_2481-Orphanet_289586-HP_0000007-GENCC_100009"	"HGNC:2481"	"CSTA"	"MONDO:0017339"	"exfoliative ichthyosis"	"Orphanet:289586"	"Orphanet:289586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2481"	"CSTA"	"Orphanet:289586"	"Exfoliative ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21944047[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20747"	"2021-09-14"
"GENCC_000110-HGNC_8021-Orphanet_289601-HP_0000007-GENCC_100009"	"HGNC:8021"	"NT5E"	"MONDO:0008895"	"hereditary arterial and articular multiple calcification syndrome"	"Orphanet:289601"	"Orphanet:289601"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8021"	"NT5E"	"Orphanet:289601"	"Hereditary arterial and articular multiple calcification syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21288095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20750"	"2021-09-14"
"GENCC_000110-HGNC_13128-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:13128"	"ZNF711"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:13128"	"ZNF711"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19377476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20778"	"2021-09-14"
"GENCC_000110-HGNC_13315-Orphanet_199-HP_0000006-GENCC_100009"	"HGNC:13315"	"HDAC8"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"Orphanet:199"	"Orphanet:199"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13315"	"HDAC8"	"Orphanet:199"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22885700[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20779"	"2021-09-14"
"GENCC_000110-HGNC_13315-Orphanet_3459-HP_0001417-GENCC_100009"	"HGNC:13315"	"HDAC8"	"MONDO:0010665"	"Wilson-Turner syndrome"	"Orphanet:3459"	"Orphanet:3459"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:13315"	"HDAC8"	"Orphanet:3459"	"Wilson-Turner syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22889856[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20779"	"2021-09-14"
"GENCC_000110-HGNC_6913-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:6913"	"MAX"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6913"	"MAX"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301715[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20780"	"2021-09-14"
"GENCC_000110-HGNC_12637-Orphanet_2322-HP_0000006-GENCC_100009"	"HGNC:12637"	"KDM6A"	"MONDO:0016512"	"Kabuki syndrome"	"Orphanet:2322"	"Orphanet:2322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12637"	"KDM6A"	"Orphanet:2322"	"Kabuki syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21882399[PMID]_22197486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20781"	"2021-09-14"
"GENCC_000110-HGNC_8157-Orphanet_139552-HP_0000007-GENCC_100009"	"HGNC:8157"	"SIGMAR1"	"MONDO:0011585"	"autosomal recessive distal spinal muscular atrophy 2"	"Orphanet:139552"	"Orphanet:139552"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8157"	"SIGMAR1"	"Orphanet:139552"	"Distal hereditary motor neuropathy, Jerash type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26078401[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20786"	"2021-09-14"
"GENCC_000110-HGNC_8157-Orphanet_300605-HP_0000007-GENCC_100009"	"HGNC:8157"	"SIGMAR1"	"MONDO:0017593"	"juvenile amyotrophic lateral sclerosis"	"Orphanet:300605"	"Orphanet:300605"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8157"	"SIGMAR1"	"Orphanet:300605"	"Juvenile amyotrophic lateral sclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21842496[PMID]_24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20786"	"2021-09-14"
"GENCC_000110-HGNC_30500-Orphanet_569-HP_0000006-GENCC_100009"	"HGNC:30500"	"PRRT2"	"MONDO:0018925"	"familial or sporadic hemiplegic migraine"	"Orphanet:569"	"Orphanet:569"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30500"	"PRRT2"	"Orphanet:569"	"Familial or sporadic hemiplegic migraine"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23077016[PMID]_23077024[PMID]_22845787[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20787"	"2021-09-14"
"GENCC_000110-HGNC_30500-Orphanet_306-HP_0000006-GENCC_100009"	"HGNC:30500"	"PRRT2"	"MONDO:0017615"	"benign familial infantile epilepsy"	"Orphanet:306"	"Orphanet:306"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30500"	"PRRT2"	"Orphanet:306"	"Benign familial infantile epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22243967[PMID]_22399141[PMID]_22623405[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20787"	"2021-09-14"
"GENCC_000110-HGNC_30500-Orphanet_31709-HP_0000006-GENCC_100009"	"HGNC:30500"	"PRRT2"	"MONDO:0011178"	"infantile convulsions and choreoathetosis"	"Orphanet:31709"	"Orphanet:31709"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30500"	"PRRT2"	"Orphanet:31709"	"Infantile convulsions and choreoathetosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22243967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20787"	"2021-09-14"
"GENCC_000110-HGNC_30500-Orphanet_98809-HP_0000006-GENCC_100009"	"HGNC:30500"	"PRRT2"	"MONDO:0007494"	"episodic kinesigenic dyskinesia 1"	"Orphanet:98809"	"Orphanet:98809"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30500"	"PRRT2"	"Orphanet:98809"	"Paroxysmal kinesigenic dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23398397[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20787"	"2021-09-14"
"GENCC_000110-HGNC_30500-Orphanet_98810-HP_0000006-GENCC_100009"	"HGNC:30500"	"PRRT2"	"MONDO:0007326"	"paroxysmal nonkinesigenic dyskinesia 1"	"Orphanet:98810"	"Orphanet:98810"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30500"	"PRRT2"	"Orphanet:98810"	"Paroxysmal non-kinesigenic dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22902309[PMID]_22209761[PMID]_23398397[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20787"	"2021-09-14"
"GENCC_000110-HGNC_30500-Orphanet_98811-HP_0000006-GENCC_100009"	"HGNC:30500"	"PRRT2"	"MONDO:0012805"	"childhood onset GLUT1 deficiency syndrome 2"	"Orphanet:98811"	"Orphanet:98811"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30500"	"PRRT2"	"Orphanet:98811"	"Paroxysmal exertion-induced dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22902309[PMID]_22209761[PMID]_23398397[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20787"	"2021-09-14"
"GENCC_000110-HGNC_7693-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7693"	"NDUFA9"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7693"	"NDUFA9"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22114105[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20788"	"2021-09-14"
"GENCC_000110-HGNC_2918-Orphanet_2440-HP_0000006-GENCC_100009"	"HGNC:2918"	"DLX5"	"MONDO:0016576"	"split hand-foot malformation"	"Orphanet:2440"	"Orphanet:2440"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2918"	"DLX5"	"Orphanet:2440"	"Isolated split hand-split foot malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24496061[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20789"	"2021-09-14"
"GENCC_000110-HGNC_2918-Orphanet_71271-HP_0000007-GENCC_100009"	"HGNC:2918"	"DLX5"	"MONDO:0009080"	"split hand-foot malformation 1 with sensorineural hearing loss"	"Orphanet:71271"	"Orphanet:71271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2918"	"DLX5"	"Orphanet:71271"	"Split hand-split foot-deafness syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22121204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20789"	"2021-09-14"
"GENCC_000110-HGNC_47-Orphanet_241-HP_0000006-GENCC_100009"	"HGNC:47"	"ABCB6"	"MONDO:0000736"	"dyschromatosis universalis hereditaria"	"Orphanet:241"	"Orphanet:241"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:47"	"ABCB6"	"Orphanet:241"	"Dyschromatosis universalis hereditaria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23519333[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20790"	"2021-09-14"
"GENCC_000110-HGNC_47-Orphanet_90044-HP_0000006-GENCC_100009"	"HGNC:47"	"ABCB6"	"MONDO:0012204"	"familial pseudohyperkalemia"	"Orphanet:90044"	"Orphanet:90044"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:47"	"ABCB6"	"Orphanet:90044"	"Familial pseudohyperkalemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23180570[PMID]_24947683[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20790"	"2021-09-14"
"GENCC_000110-HGNC_47-Orphanet_98938-HP_0000006-GENCC_100009"	"HGNC:47"	"ABCB6"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:47"	"ABCB6"	"Orphanet:98938"	"Colobomatous microphthalmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22226084[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20790"	"2021-09-14"
"GENCC_000110-HGNC_496-Orphanet_1234-HP_0000007-GENCC_100009"	"HGNC:496"	"RIPK4"	"MONDO:0009901"	"Bartsocas-Papas syndrome 1"	"Orphanet:1234"	"Orphanet:1234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:496"	"RIPK4"	"Orphanet:1234"	"Bartsocas-Papas syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22197488[PMID]_22197489[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20791"	"2021-09-14"
"GENCC_000110-HGNC_2203-Orphanet_99810-HP_0000006-GENCC_100009"	"HGNC:2203"	"COL4A2"	"MONDO:0020496"	"familial porencephaly"	"Orphanet:99810"	"Orphanet:99810"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2203"	"COL4A2"	"Orphanet:99810"	"Familial porencephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20792"	"2021-09-14"
"GENCC_000110-HGNC_3527-Orphanet_3447-HP_0000006-GENCC_100009"	"HGNC:3527"	"EZH2"	"MONDO:0010193"	"Weaver syndrome"	"Orphanet:3447"	"Orphanet:3447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3527"	"EZH2"	"Orphanet:3447"	"Weaver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22177091[PMID]_23865096[PMID]_24214728[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20793"	"2021-09-14"
"GENCC_000110-HGNC_10955-Orphanet_2796-HP_0000007-GENCC_100009"	"HGNC:10955"	"SLCO2A1"	"MONDO:0009799"	"pachydermoperiostosis"	"Orphanet:2796"	"Orphanet:2796"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10955"	"SLCO2A1"	"Orphanet:2796"	"Pachydermoperiostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22197487[PMID]_22331663[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20794"	"2021-09-14"
"GENCC_000110-HGNC_10955-Orphanet_468641-HP_0000007-GENCC_100009"	"HGNC:10955"	"SLCO2A1"	"MONDO:0018766"	"chronic enteropathy associated with SLCO2A1 gene"	"Orphanet:468641"	"Orphanet:468641"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10955"	"SLCO2A1"	"Orphanet:468641"	"Chronic enteropathy associated with SLCO2A1 gene"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26539716[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20794"	"2021-09-14"
"GENCC_000110-HGNC_28216-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:28216"	"COX14"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28216"	"COX14"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22243966[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20795"	"2021-09-14"
"GENCC_000110-HGNC_4174-Orphanet_2255-HP_0000006-GENCC_100009"	"HGNC:4174"	"GATA6"	"MONDO:0010802"	"pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"Orphanet:2255"	"Orphanet:2255"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4174"	"GATA6"	"Orphanet:2255"	"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22158542[PMID]_22962692[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20796"	"2021-09-14"
"GENCC_000110-HGNC_4174-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:4174"	"GATA6"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4174"	"GATA6"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22824924[PMID]_22750565[PMID]_22257684[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20796"	"2021-09-14"
"GENCC_000110-HGNC_2959-Orphanet_36412-HP_0000007-GENCC_100009"	"HGNC:2959"	"DNASE1L3"	"MONDO:0018227"	"hypocomplementemic urticarial vasculitis"	"Orphanet:36412"	"Orphanet:36412"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2959"	"DNASE1L3"	"Orphanet:36412"	"Hypocomplementemic urticarial vasculitis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23666765[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20797"	"2021-09-14"
"GENCC_000110-HGNC_2959-Orphanet_300345-HP_0000006-GENCC_100009"	"HGNC:2959"	"DNASE1L3"	"MONDO:0013743"	"autosomal systemic lupus erythematosus type 16"	"Orphanet:300345"	"Orphanet:300345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2959"	"DNASE1L3"	"Orphanet:300345"	"Autosomal systemic lupus erythematosus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22019780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20797"	"2021-09-14"
"GENCC_000110-HGNC_7704-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7704"	"NDUFB9"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7704"	"NDUFB9"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22200994[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20800"	"2021-09-14"
"GENCC_000110-HGNC_35126-Orphanet_157801-HP_0000007-GENCC_100009"	"HGNC:35126"	"BHLHA9"	"MONDO:0012271"	"mesoaxial synostotic syndactyly with phalangeal reduction"	"Orphanet:157801"	"Orphanet:157801"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:35126"	"BHLHA9"	"Orphanet:157801"	"Mesoaxial synostotic syndactyly with phalangeal reduction"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25466284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20801"	"2021-09-14"
"GENCC_000110-HGNC_29634-Orphanet_439212-HP_0000007-GENCC_100009"	"HGNC:29634"	"MEGF10"	"MONDO:0013731"	"MEGF10-related myopathy"	"Orphanet:439212"	"Orphanet:439212"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29634"	"MEGF10"	"Orphanet:439212"	"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22101682[PMID]_23453856[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20804"	"2021-09-14"
"GENCC_000110-HGNC_25815-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:25815"	"CEP63"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25815"	"CEP63"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20805"	"2021-09-14"
"GENCC_000110-HGNC_385-Orphanet_443087-HP_0000007-GENCC_100009"	"HGNC:385"	"AKR1C2"	"MONDO:0013664"	"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"	"Orphanet:443087"	"Orphanet:443087"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:385"	"AKR1C2"	"Orphanet:443087"	"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21802064[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20808"	"2021-09-14"
"GENCC_000110-HGNC_11098-Orphanet_3051-HP_0000006-GENCC_100009"	"HGNC:11098"	"SMARCA2"	"MONDO:0011053"	"intellectual disability-sparse hair-brachydactyly syndrome"	"Orphanet:3051"	"Orphanet:3051"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11098"	"SMARCA2"	"Orphanet:3051"	"Nicolaides-Baraitser syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22366787[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20810"	"2021-09-14"
"GENCC_000110-HGNC_16974-Orphanet_2044-HP_0000006-GENCC_100009"	"HGNC:16974"	"SRCAP"	"MONDO:0007621"	"Floating-Harbor syndrome"	"Orphanet:2044"	"Orphanet:2044"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16974"	"SRCAP"	"Orphanet:2044"	"Floating-Harbor syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22965468[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20811"	"2021-09-14"
"GENCC_000110-HGNC_7698-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7698"	"NDUFB3"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7698"	"NDUFB3"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22277967[PMID]_22499348[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20812"	"2021-09-14"
"GENCC_000110-HGNC_29861-Orphanet_91489-HP_0001417-GENCC_100009"	"HGNC:29861"	"CHRDL1"	"MONDO:0010649"	"isolated congenital megalocornea"	"Orphanet:91489"	"Orphanet:91489"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:29861"	"CHRDL1"	"Orphanet:91489"	"Isolated congenital megalocornea"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22284829[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20813"	"2021-09-14"
"GENCC_000110-HGNC_31371-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:31371"	"GPR179"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:31371"	"GPR179"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22325361[PMID]_22325362[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20814"	"2021-09-14"
"GENCC_000110-HGNC_20788-Orphanet_2198-HP_0000006-GENCC_100009"	"HGNC:20788"	"RHBDF2"	"MONDO:0007856"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"Orphanet:2198"	"Orphanet:2198"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20788"	"RHBDF2"	"Orphanet:2198"	"Palmoplantar keratoderma-esophageal carcinoma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22265016[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20815"	"2021-09-14"
"GENCC_000110-HGNC_6388-Orphanet_2526-HP_0000006-GENCC_100009"	"HGNC:6388"	"KIF11"	"MONDO:0007918"	"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	"Orphanet:2526"	"Orphanet:2526"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6388"	"KIF11"	"Orphanet:2526"	"Microcephaly-lymphedema-chorioretinopathy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22284827[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20816"	"2021-09-14"
"GENCC_000110-HGNC_30858-Orphanet_79113-HP_0000006-GENCC_100009"	"HGNC:30858"	"EFTUD2"	"MONDO:0012516"	"mandibulofacial dysostosis-microcephaly syndrome"	"Orphanet:79113"	"Orphanet:79113"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30858"	"EFTUD2"	"Orphanet:79113"	"Mandibulofacial dysostosis-microcephaly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22305528[PMID]_24999515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20817"	"2021-09-14"
"GENCC_000110-HGNC_10961-Orphanet_3111-HP_0000007-GENCC_100009"	"HGNC:10961"	"SLCO1B3"	"MONDO:0009379"	"Rotor syndrome"	"Orphanet:3111"	"Orphanet:3111"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10961"	"SLCO1B3"	"Orphanet:3111"	"Rotor syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22232210[PMID]_23236639[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20820"	"2021-09-14"
"GENCC_000110-HGNC_12736-Orphanet_906-HP_0000006-GENCC_100009"	"HGNC:12736"	"WIPF1"	"MONDO:0010518"	"Wiskott-Aldrich syndrome"	"Orphanet:906"	"Orphanet:906"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12736"	"WIPF1"	"Orphanet:906"	"Wiskott-Aldrich syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22231303[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20821"	"2021-09-14"
"GENCC_000110-HGNC_6341-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:6341"	"KISS1"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6341"	"KISS1"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22335740[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20822"	"2021-09-14"
"GENCC_000110-HGNC_9891-Orphanet_808-HP_0000007-GENCC_100009"	"HGNC:9891"	"RBBP8"	"MONDO:0019342"	"Seckel syndrome"	"Orphanet:808"	"Orphanet:808"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9891"	"RBBP8"	"Orphanet:808"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21998596[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20823"	"2021-09-14"
"GENCC_000110-HGNC_9891-Orphanet_313795-HP_0000007-GENCC_100009"	"HGNC:9891"	"RBBP8"	"MONDO:0009622"	"Jawad syndrome"	"Orphanet:313795"	"Orphanet:313795"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9891"	"RBBP8"	"Orphanet:313795"	"Jawad syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20823"	"2021-09-14"
"GENCC_000110-HGNC_26944-Orphanet_2318-HP_0000007-GENCC_100009"	"HGNC:26944"	"TMEM138"	"MONDO:0009480"	"Joubert syndrome with oculorenal defect"	"Orphanet:2318"	"Orphanet:2318"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26944"	"TMEM138"	"Orphanet:2318"	"Joubert syndrome with oculorenal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22282472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20824"	"2021-09-14"
"GENCC_000110-HGNC_12370-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:12370"	"CEP41"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12370"	"CEP41"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22246503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20825"	"2021-09-14"
"GENCC_000110-HGNC_12370-Orphanet_220493-HP_0000007-GENCC_100009"	"HGNC:12370"	"CEP41"	"MONDO:0016364"	"Joubert syndrome with ocular defect"	"Orphanet:220493"	"Orphanet:220493"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12370"	"CEP41"	"Orphanet:220493"	"Joubert syndrome with ocular defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]_22246503[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20825"	"2021-09-14"
"GENCC_000110-HGNC_28648-Orphanet_2849-HP_0000007-GENCC_100009"	"HGNC:28648"	"DIS3L2"	"MONDO:0009965"	"Perlman syndrome"	"Orphanet:2849"	"Orphanet:2849"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28648"	"DIS3L2"	"Orphanet:2849"	"Perlman syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22306653[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20826"	"2021-09-14"
"GENCC_000110-HGNC_10947-Orphanet_1980-HP_0000006-GENCC_100009"	"HGNC:10947"	"SLC20A2"	"MONDO:0008947"	"bilateral striopallidodentate calcinosis"	"Orphanet:1980"	"Orphanet:1980"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10947"	"SLC20A2"	"Orphanet:1980"	"Bilateral striopallidodentate calcinosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22327515[PMID]_20301594[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20827"	"2021-09-14"
"GENCC_000110-HGNC_24039-Orphanet_2301-HP_0000007-GENCC_100009"	"HGNC:24039"	"CLMP"	"MONDO:0014097"	"congenital short bowel syndrome"	"Orphanet:2301"	"Orphanet:2301"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24039"	"CLMP"	"Orphanet:2301"	"Congenital short bowel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22155368[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20828"	"2021-09-14"
"GENCC_000110-HGNC_1090-Orphanet_314381-HP_0000007-GENCC_100009"	"HGNC:1090"	"DST"	"MONDO:0013839"	"hereditary sensory and autonomic neuropathy type 6"	"Orphanet:314381"	"Orphanet:314381"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1090"	"DST"	"Orphanet:314381"	"Hereditary sensory and autonomic neuropathy type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22522446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20829"	"2021-09-14"
"GENCC_000110-HGNC_1090-Orphanet_412181-HP_0000007-GENCC_100009"	"HGNC:1090"	"DST"	"MONDO:0014180"	"epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"	"Orphanet:412181"	"Orphanet:412181"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1090"	"DST"	"Orphanet:412181"	"Epidermolysis bullosa simplex due to BP230 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22113475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20829"	"2021-09-14"
"GENCC_000110-HGNC_1406-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:1406"	"CACNG2"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1406"	"CACNG2"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21376300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20831"	"2021-09-14"
"GENCC_000110-HGNC_3378-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:3378"	"EPB41L1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3378"	"EPB41L1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21376300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20832"	"2021-09-14"
"GENCC_000110-HGNC_18040-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:18040"	"ARID1B"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18040"	"ARID1B"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23556151[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20833"	"2021-09-14"
"GENCC_000110-HGNC_11110-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:11110"	"ARID1A"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11110"	"ARID1A"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23556151[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20834"	"2021-09-14"
"GENCC_000110-HGNC_30417-Orphanet_329249-HP_0000006-GENCC_100009"	"HGNC:30417"	"SH2B1"	"MONDO:0017994"	"severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"	"Orphanet:329249"	"Orphanet:329249"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30417"	"SH2B1"	"Orphanet:329249"	"Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23160192[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20852"	"2021-09-14"
"GENCC_000110-HGNC_6408-Orphanet_233-HP_0000006-GENCC_100009"	"HGNC:6408"	"MAFB"	"MONDO:0007473"	"Duane retraction syndrome"	"Orphanet:233"	"Orphanet:233"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6408"	"MAFB"	"Orphanet:233"	"Duane retraction syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27181683[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20884"	"2021-09-14"
"GENCC_000110-HGNC_6408-Orphanet_2774-HP_0000006-GENCC_100009"	"HGNC:6408"	"MAFB"	"MONDO:0008152"	"multicentric carpo-tarsal osteolysis with or without nephropathy"	"Orphanet:2774"	"Orphanet:2774"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6408"	"MAFB"	"Orphanet:2774"	"Multicentric carpo-tarsal osteolysis with or without nephropathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22387013[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20884"	"2021-09-14"
"GENCC_000110-HGNC_10596-Orphanet_306-HP_0000006-GENCC_100009"	"HGNC:10596"	"SCN8A"	"MONDO:0017615"	"benign familial infantile epilepsy"	"Orphanet:306"	"Orphanet:306"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10596"	"SCN8A"	"Orphanet:306"	"Benign familial infantile epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26677014[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20890"	"2021-09-14"
"GENCC_000110-HGNC_10596-Orphanet_31709-HP_0000006-GENCC_100009"	"HGNC:10596"	"SCN8A"	"MONDO:0011178"	"infantile convulsions and choreoathetosis"	"Orphanet:31709"	"Orphanet:31709"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10596"	"SCN8A"	"Orphanet:31709"	"Infantile convulsions and choreoathetosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26677014[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20890"	"2021-09-14"
"GENCC_000110-HGNC_10596-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:10596"	"SCN8A"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10596"	"SCN8A"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22365152[PMID]_23708187[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20890"	"2021-09-14"
"GENCC_000110-HGNC_18084-Orphanet_659-HP_0000006-GENCC_100009"	"HGNC:18084"	"TRPV3"	"MONDO:0019014"	"mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"Orphanet:659"	"Orphanet:659"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18084"	"TRPV3"	"Orphanet:659"	"Mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22405088[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20910"	"2021-09-14"
"GENCC_000110-HGNC_18084-Orphanet_448264-HP_0000006-GENCC_100009"	"HGNC:18084"	"TRPV3"	"MONDO:0014622"	"isolated focal non-epidermolytic palmoplantar keratoderma"	"Orphanet:448264"	"Orphanet:448264"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18084"	"TRPV3"	"Orphanet:448264"	"Isolated focal non-epidermolytic palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25285920[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20910"	"2021-09-14"
"GENCC_000110-HGNC_6947-Orphanet_75391-HP_0000007-GENCC_100009"	"HGNC:6947"	"MCM4"	"MONDO:0012383"	"primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"	"Orphanet:75391"	"Orphanet:75391"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6947"	"MCM4"	"Orphanet:75391"	"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22405088[PMID]_22354170[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20911"	"2021-09-14"
"GENCC_000110-HGNC_10723-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:10723"	"SEMA3A"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10723"	"SEMA3A"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22416012[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20912"	"2021-09-14"
"GENCC_000110-HGNC_10723-Orphanet_130-HP_0000006-GENCC_100009"	"HGNC:10723"	"SEMA3A"	"MONDO:0015263"	"Brugada syndrome"	"Orphanet:130"	"Orphanet:130"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10723"	"SEMA3A"	"Orphanet:130"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30821013[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"20912"	"2021-09-14"
"GENCC_000110-HGNC_29086-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:29086"	"CEP135"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29086"	"CEP135"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21068"	"2021-09-14"
"GENCC_000110-HGNC_14888-Orphanet_34516-HP_0000006-GENCC_100009"	"HGNC:14888"	"DNAJB6"	"MONDO:0021018"	"autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"	"Orphanet:34516"	"Orphanet:34516"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14888"	"DNAJB6"	"Orphanet:34516"	"DNAJB6-related limb-girdle muscular dystrophy D1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22366786[PMID]_22334415[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21069"	"2021-09-14"
"GENCC_000110-HGNC_30492-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:30492"	"DNAAF3"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30492"	"DNAAF3"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22387996[PMID]_20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21070"	"2021-09-14"
"GENCC_000110-HGNC_9905-Orphanet_3320-HP_0000007-GENCC_100009"	"HGNC:9905"	"RBM8A"	"MONDO:0010121"	"thrombocytopenia-absent radius syndrome"	"Orphanet:3320"	"Orphanet:3320"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9905"	"RBM8A"	"Orphanet:3320"	"Thrombocytopenia-absent radius syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22366785[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21071"	"2021-09-14"
"GENCC_000110-HGNC_6269-Orphanet_1517-HP_0000006-GENCC_100009"	"HGNC:6269"	"KCNJ8"	"MONDO:0009406"	"hypertrichotic osteochondrodysplasia Cantu type"	"Orphanet:1517"	"Orphanet:1517"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6269"	"KCNJ8"	"Orphanet:1517"	"Hypertrichotic osteochondrodysplasia, Cantu type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24700710[PMID]_24176758[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21073"	"2021-09-14"
"GENCC_000110-HGNC_9823-Orphanet_145-HP_0000006-GENCC_100009"	"HGNC:9823"	"RAD51D"	"MONDO:0003582"	"hereditary breast ovarian cancer syndrome"	"Orphanet:145"	"Orphanet:145"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9823"	"RAD51D"	"Orphanet:145"	"Hereditary breast and ovarian cancer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21822267[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21074"	"2021-09-14"
"GENCC_000110-HGNC_8149-Orphanet_33572-HP_0000007-GENCC_100009"	"HGNC:8149"	"OPLAH"	"MONDO:0009825"	"5-oxoprolinase deficiency"	"Orphanet:33572"	"Orphanet:33572"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8149"	"OPLAH"	"Orphanet:33572"	"5-oxoprolinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21651516[PMID]_27477828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21075"	"2021-09-14"
"GENCC_000110-HGNC_13907-Orphanet_91495-HP_0000006-GENCC_100009"	"HGNC:13907"	"ATOH7"	"MONDO:0019631"	"persistent hyperplastic primary vitreous"	"Orphanet:91495"	"Orphanet:91495"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13907"	"ATOH7"	"Orphanet:91495"	"Persistent hyperplastic primary vitreous"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22645276[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21079"	"2021-09-14"
"GENCC_000110-HGNC_13907-Orphanet_289499-HP_0000007-GENCC_100009"	"HGNC:13907"	"ATOH7"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"Orphanet:289499"	"Orphanet:289499"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13907"	"ATOH7"	"Orphanet:289499"	"Congenital cataract microcornea with corneal opacity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22068589[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21079"	"2021-09-14"
"GENCC_000110-HGNC_12518-Orphanet_276556-HP_0000006-GENCC_100009"	"HGNC:12518"	"UCP2"	"MONDO:0017183"	"hyperinsulinism due to UCP2 deficiency"	"Orphanet:276556"	"Orphanet:276556"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12518"	"UCP2"	"Orphanet:276556"	"Hyperinsulinism due to UCP2 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19065272[PMID]_25733449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21081"	"2021-09-14"
"GENCC_000110-HGNC_1952-Orphanet_2970-HP_0000006-GENCC_100009"	"HGNC:1952"	"CHRM3"	"MONDO:0007032"	"prune belly syndrome"	"Orphanet:2970"	"Orphanet:2970"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1952"	"CHRM3"	"Orphanet:2970"	"Prune belly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22077972[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21082"	"2021-09-14"
"GENCC_000110-HGNC_21478-Orphanet_293864-HP_0000007-GENCC_100009"	"HGNC:21478"	"RFX6"	"MONDO:0017400"	"hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome"	"Orphanet:293864"	"Orphanet:293864"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21478"	"RFX6"	"Orphanet:293864"	"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21965172[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21084"	"2021-09-14"
"GENCC_000110-HGNC_20581-Orphanet_293925-HP_0000007-GENCC_100009"	"HGNC:20581"	"CYP26B1"	"MONDO:0013740"	"lethal occipital encephalocele-skeletal dysplasia syndrome"	"Orphanet:293925"	"Orphanet:293925"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20581"	"CYP26B1"	"Orphanet:293925"	"Lethal occipital encephalocele-skeletal dysplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22019272[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21085"	"2021-09-14"
"GENCC_000110-HGNC_17358-Orphanet_293955-HP_0000007-GENCC_100009"	"HGNC:17358"	"TPK1"	"MONDO:0013761"	"childhood encephalopathy due to thiamine pyrophosphokinase deficiency"	"Orphanet:293955"	"Orphanet:293955"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17358"	"TPK1"	"Orphanet:293955"	"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22152682[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21087"	"2021-09-14"
"GENCC_000110-HGNC_195-Orphanet_294023-HP_0000007-GENCC_100009"	"HGNC:195"	"ADAM17"	"MONDO:0017411"	"neonatal inflammatory skin and bowel disease"	"Orphanet:294023"	"Orphanet:294023"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:195"	"ADAM17"	"Orphanet:294023"	"Neonatal inflammatory skin and bowel disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22010916[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21088"	"2021-09-14"
"GENCC_000110-HGNC_25801-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:25801"	"CPLANE1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25801"	"CPLANE1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22425360[PMID]_22693042[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21089"	"2021-09-14"
"GENCC_000110-HGNC_25801-Orphanet_2754-HP_0000007-GENCC_100009"	"HGNC:25801"	"CPLANE1"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"Orphanet:2754"	"Orphanet:2754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25801"	"CPLANE1"	"Orphanet:2754"	"Orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24178751[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21089"	"2021-09-14"
"GENCC_000110-HGNC_29478-Orphanet_1946-HP_0000007-GENCC_100009"	"HGNC:29478"	"ROGDI"	"MONDO:0009185"	"amelocerebrohypohidrotic syndrome"	"Orphanet:1946"	"Orphanet:1946"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29478"	"ROGDI"	"Orphanet:1946"	"Amelocerebrohypohidrotic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22424600[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21090"	"2021-09-14"
"GENCC_000110-HGNC_7413-Orphanet_85182-HP_0000006-GENCC_100009"	"HGNC:7413"	"MTAP"	"MONDO:0007205"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"Orphanet:85182"	"Orphanet:85182"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7413"	"MTAP"	"Orphanet:85182"	"Diaphyseal medullary stenosis-bone malignancy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21091"	"2021-09-14"
"GENCC_000110-HGNC_8783-Orphanet_950-HP_0000006-GENCC_100009"	"HGNC:8783"	"PDE4D"	"MONDO:0019797"	"acrodysostosis"	"Orphanet:950"	"Orphanet:950"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8783"	"PDE4D"	"Orphanet:950"	"Acrodysostosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22464250[PMID]_22464252[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21092"	"2021-09-14"
"GENCC_000110-HGNC_8783-Orphanet_280651-HP_0000006-GENCC_100009"	"HGNC:8783"	"PDE4D"	"MONDO:0017240"	"acrodysostosis with multiple hormone resistance"	"Orphanet:280651"	"Orphanet:280651"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8783"	"PDE4D"	"Orphanet:280651"	"Acrodysostosis with multiple hormone resistance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22464250[PMID]_22464252[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21092"	"2021-09-14"
"GENCC_000110-HGNC_8783-Orphanet_439822-HP_0000005-GENCC_100009"	"HGNC:8783"	"PDE4D"	"MONDO:0014298"	"chromosome 5q12 deletion syndrome"	"Orphanet:439822"	"Orphanet:439822"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:8783"	"PDE4D"	"Orphanet:439822"	"PDE4D haploinsufficiency syndrome"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24203977[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21092"	"2021-09-14"
"GENCC_000110-HGNC_8966-Orphanet_3474-HP_0000007-GENCC_100009"	"HGNC:8966"	"PIGL"	"MONDO:0010221"	"CHIME syndrome"	"Orphanet:3474"	"Orphanet:3474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8966"	"PIGL"	"Orphanet:3474"	"CHIME syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22444671[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21093"	"2021-09-14"
"GENCC_000110-HGNC_8966-Orphanet_247262-HP_0000007-GENCC_100009"	"HGNC:8966"	"PIGL"	"MONDO:0016596"	"hyperphosphatasia-intellectual disability syndrome"	"Orphanet:247262"	"Orphanet:247262"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8966"	"PIGL"	"Orphanet:247262"	"Hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25706356[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21093"	"2021-09-14"
"GENCC_000110-HGNC_10898-Orphanet_84064-HP_0000007-GENCC_100009"	"HGNC:10898"	"SKIC2"	"MONDO:0009105"	"trichohepatoenteric syndrome"	"Orphanet:84064"	"Orphanet:84064"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10898"	"SKIV2L"	"Orphanet:84064"	"Syndromic diarrhea"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22444670[PMID]_23302111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21094"	"2021-09-14"
"GENCC_000110-HGNC_12829-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:12829"	"XRCC2"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12829"	"XRCC2"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22232082[PMID]_27208205[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21095"	"2021-09-14"
"GENCC_000110-HGNC_12829-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:12829"	"XRCC2"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12829"	"XRCC2"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30042186[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21095"	"2021-09-14"
"GENCC_000110-HGNC_14974-Orphanet_667-HP_0000007-GENCC_100009"	"HGNC:14974"	"SNX10"	"MONDO:0019026"	"autosomal recessive osteopetrosis"	"Orphanet:667"	"Orphanet:667"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14974"	"SNX10"	"Orphanet:667"	"Autosomal recessive malignant osteopetrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22499339[PMID]_23877423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21096"	"2021-09-14"
"GENCC_000110-HGNC_29666-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:29666"	"MTFMT"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29666"	"MTFMT"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22499348[PMID]_23499752[PMID]_24461907[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21097"	"2021-09-14"
"GENCC_000110-HGNC_393-Orphanet_83473-HP_0000006-GENCC_100009"	"HGNC:393"	"AKT3"	"MONDO:0019375"	"megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"	"Orphanet:83473"	"Orphanet:83473"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:393"	"AKT3"	"Orphanet:83473"	"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22729224[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21098"	"2021-09-14"
"GENCC_000110-HGNC_30035-Orphanet_64753-HP_0000007-GENCC_100009"	"HGNC:30035"	"PIK3R5"	"MONDO:0018996"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	"Orphanet:64753"	"Orphanet:64753"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30035"	"PIK3R5"	"Orphanet:64753"	"Spinocerebellar ataxia with axonal neuropathy type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22065524[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21101"	"2021-09-14"
"GENCC_000110-HGNC_1399-Orphanet_51083-HP_0000006-GENCC_100009"	"HGNC:1399"	"CACNA2D1"	"MONDO:0000453"	"short QT syndrome"	"Orphanet:51083"	"Orphanet:51083"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1399"	"CACNA2D1"	"Orphanet:51083"	"Familial short QT syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21383000[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21102"	"2021-09-14"
"GENCC_000110-HGNC_29077-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:29077"	"IFT140"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29077"	"IFT140"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22503633[PMID]_23418020[PMID]_24009529[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21155"	"2021-09-14"
"GENCC_000110-HGNC_29077-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:29077"	"IFT140"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29077"	"IFT140"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26216056[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21155"	"2021-09-14"
"GENCC_000110-HGNC_29077-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:29077"	"IFT140"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29077"	"IFT140"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26216056[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21155"	"2021-09-14"
"GENCC_000110-HGNC_29077-Orphanet_140969-HP_0000007-GENCC_100009"	"HGNC:29077"	"IFT140"	"MONDO:0009964"	"short-rib thoracic dysplasia 9 with or without polydactyly"	"Orphanet:140969"	"Orphanet:140969"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29077"	"IFT140"	"Orphanet:140969"	"Saldino-Mainzer syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22503633[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21155"	"2021-09-14"
"GENCC_000110-HGNC_25994-Orphanet_235-HP_0000007-GENCC_100009"	"HGNC:25994"	"NSUN2"	"MONDO:0009124"	"Dubowitz syndrome"	"Orphanet:235"	"Orphanet:235"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25994"	"NSUN2"	"Orphanet:235"	"Dubowitz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22577224[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21156"	"2021-09-14"
"GENCC_000110-HGNC_25994-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:25994"	"NSUN2"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25994"	"NSUN2"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22541559[PMID]_22541562[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21156"	"2021-09-14"
"GENCC_000110-HGNC_4387-Orphanet_137888-HP_0000006-GENCC_100009"	"HGNC:4387"	"GNAI3"	"MONDO:0000107"	"auriculocondylar syndrome"	"Orphanet:137888"	"Orphanet:137888"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4387"	"GNAI3"	"Orphanet:137888"	"Auriculocondylar syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22560091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21157"	"2021-09-14"
"GENCC_000110-HGNC_9059-Orphanet_137888-HP_0000006-GENCC_100009"	"HGNC:9059"	"PLCB4"	"MONDO:0000107"	"auriculocondylar syndrome"	"Orphanet:137888"	"Orphanet:137888"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9059"	"PLCB4"	"Orphanet:137888"	"Auriculocondylar syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22560091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21158"	"2021-09-14"
"GENCC_000110-HGNC_10771-Orphanet_245-HP_0000006-GENCC_100009"	"HGNC:10771"	"SF3B4"	"MONDO:0007943"	"Nager acrofacial dysostosis"	"Orphanet:245"	"Orphanet:245"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10771"	"SF3B4"	"Orphanet:245"	"Nager syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22541558[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21159"	"2021-09-14"
"GENCC_000110-HGNC_10771-Orphanet_1788-HP_0000006-GENCC_100009"	"HGNC:10771"	"SF3B4"	"MONDO:0008714"	"acrofacial dysostosis Rodriguez type"	"Orphanet:1788"	"Orphanet:1788"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10771"	"SF3B4"	"Orphanet:1788"	"Acrofacial dysostosis, RodrÝguez type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27642715[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21159"	"2021-09-14"
"GENCC_000110-HGNC_37276-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:37276"	"CRPPA"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:37276"	"CRPPA"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22522420[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21160"	"2021-09-14"
"GENCC_000110-HGNC_37276-Orphanet_352479-HP_0000007-GENCC_100009"	"HGNC:37276"	"CRPPA"	"MONDO:0014474"	"autosomal recessive limb-girdle muscular dystrophy type 2U"	"Orphanet:352479"	"Orphanet:352479"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:37276"	"CRPPA"	"Orphanet:352479"	"ISPD-related limb-girdle muscular dystrophy R20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23288328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21160"	"2021-09-14"
"GENCC_000110-HGNC_37276-Orphanet_370980-HP_0000007-GENCC_100009"	"HGNC:37276"	"CRPPA"	"MONDO:0018279"	"congenital muscular dystrophy without intellectual disability"	"Orphanet:370980"	"Orphanet:370980"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:37276"	"CRPPA"	"Orphanet:370980"	"Congenital muscular dystrophy without intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23288328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21160"	"2021-09-14"
"GENCC_000110-HGNC_29304-Orphanet_178338-HP_0000007-GENCC_100009"	"HGNC:29304"	"UVSSA"	"MONDO:0015797"	"UV-sensitive syndrome"	"Orphanet:178338"	"Orphanet:178338"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29304"	"UVSSA"	"Orphanet:178338"	"UV-sensitive syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22466610[PMID]_22466611[PMID]_22466612[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21161"	"2021-09-14"
"GENCC_000110-HGNC_6239-Orphanet_98772-HP_0000006-GENCC_100009"	"HGNC:6239"	"KCND3"	"MONDO:0011819"	"spinocerebellar ataxia type 19/22"	"Orphanet:98772"	"Orphanet:98772"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6239"	"KCND3"	"Orphanet:98772"	"Spinocerebellar ataxia type 19/22"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22890214[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21162"	"2021-09-14"
"GENCC_000110-HGNC_25135-Orphanet_300319-HP_0000006-GENCC_100009"	"HGNC:25135"	"LRSAM1"	"MONDO:0013753"	"Charcot-Marie-Tooth disease axonal type 2P"	"Orphanet:300319"	"Orphanet:300319"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25135"	"LRSAM1"	"Orphanet:300319"	"Charcot-Marie-Tooth disease type 2P"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21165"	"2021-09-14"
"GENCC_000110-HGNC_20323-Orphanet_314721-HP_0000007-GENCC_100009"	"HGNC:20323"	"SMOC2"	"MONDO:0017819"	"atypical dentin dysplasia due to SMOC2 deficiency"	"Orphanet:314721"	"Orphanet:314721"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20323"	"SMOC2"	"Orphanet:314721"	"Atypical dentin dysplasia due to SMOC2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22152679[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21166"	"2021-09-14"
"GENCC_000110-HGNC_18708-Orphanet_2052-HP_0000007-GENCC_100009"	"HGNC:18708"	"GRIP1"	"MONDO:0009046"	"Fraser syndrome"	"Orphanet:2052"	"Orphanet:2052"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18708"	"GRIP1"	"Orphanet:2052"	"Fraser syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22510445[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21167"	"2021-09-14"
"GENCC_000110-HGNC_1742-Orphanet_445018-HP_0000007-GENCC_100009"	"HGNC:1742"	"LRBA"	"MONDO:0013863"	"combined immunodeficiency due to LRBA deficiency"	"Orphanet:445018"	"Orphanet:445018"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1742"	"LRBA"	"Orphanet:445018"	"Combined immunodeficiency due to LRBA deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22608502[PMID]_25468195[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21168"	"2021-09-14"
"GENCC_000110-HGNC_28993-Orphanet_3202-HP_0000006-GENCC_100009"	"HGNC:28993"	"PIEZO1"	"MONDO:0017910"	"dehydrated hereditary stomatocytosis"	"Orphanet:3202"	"Orphanet:3202"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28993"	"PIEZO1"	"Orphanet:3202"	"Dehydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22529292[PMID]_23695678[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21169"	"2021-09-14"
"GENCC_000110-HGNC_6741-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:6741"	"LZTFL1"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6741"	"LZTFL1"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22510444[PMID]_20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21170"	"2021-09-14"
"GENCC_000110-HGNC_32700-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:32700"	"DNAAF19"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:32700"	"CCDC103"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22581229[PMID]_20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21172"	"2021-09-14"
"GENCC_000110-HGNC_24565-Orphanet_363965-HP_0000006-GENCC_100009"	"HGNC:24565"	"KANSL1"	"MONDO:0018217"	"Koolen-de Vries syndrome due to a point mutation"	"Orphanet:363965"	"Orphanet:363965"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24565"	"KANSL1"	"Orphanet:363965"	"Koolen-De Vries syndrome due to a point mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22544363[PMID]_22544367[PMID]_20301783[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21173"	"2021-09-14"
"GENCC_000110-HGNC_17944-Orphanet_2254-HP_0000007-GENCC_100009"	"HGNC:17944"	"EXOSC3"	"MONDO:0016396"	"pontocerebellar hypoplasia type 1"	"Orphanet:2254"	"Orphanet:2254"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17944"	"EXOSC3"	"Orphanet:2254"	"Pontocerebellar hypoplasia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22544365[PMID]_25144110[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21174"	"2021-09-14"
"GENCC_000110-HGNC_2001-Orphanet_157794-HP_0000006-GENCC_100009"	"HGNC:2001"	"GREM1"	"MONDO:0011023"	"hereditary mixed polyposis syndrome"	"Orphanet:157794"	"Orphanet:157794"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2001"	"GREM1"	"Orphanet:157794"	"Hereditary mixed polyposis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22561515[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21175"	"2021-09-14"
"GENCC_000110-HGNC_6354-Orphanet_300525-HP_0000006-GENCC_100009"	"HGNC:6354"	"KLHL3"	"MONDO:0013781"	"pseudohypoaldosteronism type 2D"	"Orphanet:300525"	"Orphanet:300525"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6354"	"KLHL3"	"Orphanet:300525"	"Pseudohypoaldosteronism type 2D"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22073419[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21176"	"2021-09-14"
"GENCC_000110-HGNC_2553-Orphanet_300530-HP_0000006-GENCC_100009"	"HGNC:2553"	"CUL3"	"MONDO:0013782"	"pseudohypoaldosteronism type 2E"	"Orphanet:300530"	"Orphanet:300530"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2553"	"CUL3"	"Orphanet:300530"	"Pseudohypoaldosteronism type 2E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22073419[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21177"	"2021-09-14"
"GENCC_000110-HGNC_4816-Orphanet_231183-HP_0000007-GENCC_100009"	"HGNC:4816"	"HARS1"	"MONDO:0016485"	"Usher syndrome type 3"	"Orphanet:231183"	"Orphanet:231183"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4816"	"HARS1"	"Orphanet:231183"	"Usher syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22279524[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21178"	"2021-09-14"
"GENCC_000110-HGNC_4816-Orphanet_488333-HP_0000006-GENCC_100009"	"HGNC:4816"	"HARS1"	"MONDO:0014711"	"autosomal dominant Charcot-Marie-Tooth disease type 2W"	"Orphanet:488333"	"Orphanet:488333"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4816"	"HARS1"	"Orphanet:488333"	"Autosomal dominant Charcot-Marie-Tooth disease type 2W"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26072516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21178"	"2021-09-14"
"GENCC_000110-HGNC_9066-Orphanet_300359-HP_0000006-GENCC_100009"	"HGNC:9066"	"PLCG2"	"MONDO:0013766"	"familial cold autoinflammatory syndrome 3"	"Orphanet:300359"	"Orphanet:300359"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9066"	"PLCG2"	"Orphanet:300359"	"PLCG2-associated antibody deficiency and immune dysregulation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22236196[PMID]_23000145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21179"	"2021-09-14"
"GENCC_000110-HGNC_9066-Orphanet_324530-HP_0000006-GENCC_100009"	"HGNC:9066"	"PLCG2"	"MONDO:0013944"	"autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"	"Orphanet:324530"	"Orphanet:324530"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9066"	"PLCG2"	"Orphanet:324530"	"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23000145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21179"	"2021-09-14"
"GENCC_000110-HGNC_2340-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:2340"	"CRADD"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2340"	"CRADD"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22279524[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21180"	"2021-09-14"
"GENCC_000110-HGNC_4455-Orphanet_300293-HP_0000007-GENCC_100009"	"HGNC:4455"	"GPD1"	"MONDO:0013771"	"transient infantile hypertriglyceridemia and hepatosteatosis"	"Orphanet:300293"	"Orphanet:300293"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4455"	"GPD1"	"Orphanet:300293"	"Transient infantile hypertriglyceridemia and hepatosteatosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22226083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21181"	"2021-09-14"
"GENCC_000110-HGNC_2728-Orphanet_300536-HP_0000007-GENCC_100009"	"HGNC:2728"	"DDOST"	"MONDO:0013789"	"DDOST-congenital disorder of glycosylation"	"Orphanet:300536"	"Orphanet:300536"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2728"	"DDOST"	"Orphanet:300536"	"DDOST-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22305527[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21182"	"2021-09-14"
"GENCC_000110-HGNC_18127-Orphanet_2518-HP_0000007-GENCC_100009"	"HGNC:18127"	"TUBGCP6"	"MONDO:0009624"	"microcephaly and chorioretinopathy 1"	"Orphanet:2518"	"Orphanet:2518"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18127"	"TUBGCP6"	"Orphanet:2518"	"Autosomal recessive chorioretinopathy-microcephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22279524[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21183"	"2021-09-14"
"GENCC_000110-HGNC_7863-Orphanet_361-HP_0000007-GENCC_100009"	"HGNC:7863"	"NNT"	"MONDO:0008733"	"familial glucocorticoid deficiency"	"Orphanet:361"	"Orphanet:361"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7863"	"NNT"	"Orphanet:361"	"Familial glucocorticoid deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22634753[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21185"	"2021-09-14"
"GENCC_000110-HGNC_18625-Orphanet_300179-HP_0000007-GENCC_100009"	"HGNC:18625"	"FKBP14"	"MONDO:0013800"	"Ehlers-Danlos syndrome, kyphoscoliotic type, 2"	"Orphanet:300179"	"Orphanet:300179"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18625"	"FKBP14"	"Orphanet:300179"	"Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22265013[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21186"	"2021-09-14"
"GENCC_000110-HGNC_15802-Orphanet_3303-HP_0000006-GENCC_100009"	"HGNC:15802"	"GATA5"	"MONDO:0008542"	"tetralogy of fallot"	"Orphanet:3303"	"Orphanet:3303"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15802"	"GATA5"	"Orphanet:3303"	"Tetralogy of Fallot"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23289003[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21188"	"2021-09-14"
"GENCC_000110-HGNC_15802-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:15802"	"GATA5"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15802"	"GATA5"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22483626[PMID]_23175127[PMID]_23295592[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21188"	"2021-09-14"
"GENCC_000110-HGNC_15802-Orphanet_402075-HP_0000006-GENCC_100009"	"HGNC:15802"	"GATA5"	"MONDO:0007194"	"familial bicuspid aortic valve"	"Orphanet:402075"	"Orphanet:402075"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15802"	"GATA5"	"Orphanet:402075"	"Familial bicuspid aortic valve"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24638895[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21188"	"2021-09-14"
"GENCC_000110-HGNC_9811-Orphanet_199-HP_0000006-GENCC_100009"	"HGNC:9811"	"RAD21"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"Orphanet:199"	"Orphanet:199"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9811"	"RAD21"	"Orphanet:199"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22633399[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21189"	"2021-09-14"
"GENCC_000110-HGNC_12261-Orphanet_3286-HP_0000006-GENCC_100009"	"HGNC:12261"	"TRDN"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"Orphanet:3286"	"Orphanet:3286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12261"	"TRDN"	"Orphanet:3286"	"Catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22422768[PMID]_20301466[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21190"	"2021-09-14"
"GENCC_000110-HGNC_1630-Orphanet_300333-HP_0000007-GENCC_100009"	"HGNC:1630"	"CD151"	"MONDO:0012190"	"epidermolysis bullosa simplex 7, with nephropathy and deafness"	"Orphanet:300333"	"Orphanet:300333"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1630"	"CD151"	"Orphanet:300333"	"Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15265795[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21191"	"2021-09-14"
"GENCC_000110-HGNC_17109-Orphanet_363992-HP_0000007-GENCC_100009"	"HGNC:17109"	"ADAMTS17"	"MONDO:0013176"	"Weill-Marchesani 4 syndrome, recessive"	"Orphanet:363992"	"Orphanet:363992"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17109"	"ADAMTS17"	"Orphanet:363992"	"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19836009[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21192"	"2021-09-14"
"GENCC_000110-HGNC_29941-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:29941"	"GATAD1"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29941"	"GATAD1"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21965549[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21193"	"2021-09-14"
"GENCC_000110-HGNC_15480-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:15480"	"DIAPH3"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15480"	"DIAPH3"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20624953[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21194"	"2021-09-14"
"GENCC_000110-HGNC_23215-Orphanet_247262-HP_0000007-GENCC_100009"	"HGNC:23215"	"PIGO"	"MONDO:0016596"	"hyperphosphatasia-intellectual disability syndrome"	"Orphanet:247262"	"Orphanet:247262"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23215"	"PIGO"	"Orphanet:247262"	"Hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22683086[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21195"	"2021-09-14"
"GENCC_000110-HGNC_16446-Orphanet_2897-HP_0000006-GENCC_100009"	"HGNC:16446"	"CARD14"	"MONDO:0008251"	"familial pityriasis rubra pilaris"	"Orphanet:2897"	"Orphanet:2897"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16446"	"CARD14"	"Orphanet:2897"	"Pityriasis rubra pilaris"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22703878[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21197"	"2021-09-14"
"GENCC_000110-HGNC_11185-Orphanet_1020-HP_0000006-GENCC_100009"	"HGNC:11185"	"SORL1"	"MONDO:0015140"	"early-onset autosomal dominant Alzheimer disease"	"Orphanet:1020"	"Orphanet:1020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11185"	"SORL1"	"Orphanet:1020"	"Early-onset autosomal dominant Alzheimer disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22472873[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21201"	"2021-09-14"
"GENCC_000110-HGNC_26530-Orphanet_101063-HP_0000006-GENCC_100009"	"HGNC:26530"	"CFAP53"	"MONDO:0010029"	"situs inversus"	"Orphanet:101063"	"Orphanet:101063"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26530"	"CFAP53"	"Orphanet:101063"	"Situs inversus totalis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22577226[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21203"	"2021-09-14"
"GENCC_000110-HGNC_8980-Orphanet_83473-HP_0000006-GENCC_100009"	"HGNC:8980"	"PIK3R2"	"MONDO:0019375"	"megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"	"Orphanet:83473"	"Orphanet:83473"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8980"	"PIK3R2"	"Orphanet:83473"	"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22729224[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21205"	"2021-09-14"
"GENCC_000110-HGNC_20774-Orphanet_98805-HP_0000006-GENCC_100009"	"HGNC:20774"	"TUBB4A"	"MONDO:0007493"	"torsion dystonia 4"	"Orphanet:98805"	"Orphanet:98805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20774"	"TUBB4A"	"Orphanet:98805"	"Primary dystonia, DYT4 type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21207"	"2021-09-14"
"GENCC_000110-HGNC_20774-Orphanet_139441-HP_0000006-GENCC_100009"	"HGNC:20774"	"TUBB4A"	"MONDO:0012905"	"hypomyelinating leukodystrophy 6"	"Orphanet:139441"	"Orphanet:139441"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20774"	"TUBB4A"	"Orphanet:139441"	"Hypomyelination with atrophy of basal ganglia and cerebellum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23582646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21207"	"2021-09-14"
"GENCC_000110-HGNC_3319-Orphanet_632-HP_0001417-GENCC_100009"	"HGNC:3319"	"ELF4"	"MONDO:0018967"	"short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"	"Orphanet:632"	"Orphanet:632"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3319"	"ELF4"	"Orphanet:632"	"Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18180883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21210"	"2021-09-14"
"GENCC_000110-HGNC_16644-Orphanet_216828-HP_0000006-GENCC_100009"	"HGNC:16644"	"IFITM5"	"MONDO:0012591"	"osteogenesis imperfecta type 5"	"Orphanet:216828"	"Orphanet:216828"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16644"	"IFITM5"	"Orphanet:216828"	"Osteogenesis imperfecta type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22863190[PMID]_22863195[PMID]_25046257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21297"	"2021-09-14"
"GENCC_000110-HGNC_29170-Orphanet_144-HP_0000006-GENCC_100009"	"HGNC:29170"	"FAN1"	"MONDO:0005835"	"Lynch syndrome"	"Orphanet:144"	"Orphanet:144"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29170"	"FAN1"	"Orphanet:144"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26052075[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21300"	"2021-09-14"
"GENCC_000110-HGNC_29170-Orphanet_401996-HP_0000007-GENCC_100009"	"HGNC:29170"	"FAN1"	"MONDO:0013898"	"karyomegalic interstitial nephritis"	"Orphanet:401996"	"Orphanet:401996"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29170"	"FAN1"	"Orphanet:401996"	"Karyomegalic interstitial nephritis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22772369[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21300"	"2021-09-14"
"GENCC_000110-HGNC_29944-Orphanet_98938-HP_0000006-GENCC_100009"	"HGNC:29944"	"TENM3"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29944"	"TENM3"	"Orphanet:98938"	"Colobomatous microphthalmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22766609[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21302"	"2021-09-14"
"GENCC_000110-HGNC_24519-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:24519"	"TCTN3"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24519"	"TCTN3"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22883145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21406"	"2021-09-14"
"GENCC_000110-HGNC_24519-Orphanet_2753-HP_0000007-GENCC_100009"	"HGNC:24519"	"TCTN3"	"MONDO:0009794"	"orofaciodigital syndrome IV"	"Orphanet:2753"	"Orphanet:2753"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24519"	"TCTN3"	"Orphanet:2753"	"Orofaciodigital syndrome type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22883145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21406"	"2021-09-14"
"GENCC_000110-HGNC_24519-Orphanet_2754-HP_0000007-GENCC_100009"	"HGNC:24519"	"TCTN3"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"Orphanet:2754"	"Orphanet:2754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24519"	"TCTN3"	"Orphanet:2754"	"Orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22883145[PMID]_20301500[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21406"	"2021-09-14"
"GENCC_000110-HGNC_6772-Orphanet_3269-HP_0000005-GENCC_100009"	"HGNC:6772"	"SMAD6"	"MONDO:0017985"	"congenital radioulnar synostosis"	"Orphanet:3269"	"Orphanet:3269"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:6772"	"SMAD6"	"Orphanet:3269"	"Congenital radioulnar synostosis"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31138930[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21410"	"2021-09-14"
"GENCC_000110-HGNC_6772-Orphanet_402075-HP_0000006-GENCC_100009"	"HGNC:6772"	"SMAD6"	"MONDO:0007194"	"familial bicuspid aortic valve"	"Orphanet:402075"	"Orphanet:402075"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6772"	"SMAD6"	"Orphanet:402075"	"Familial bicuspid aortic valve"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22275001[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21410"	"2021-09-14"
"GENCC_000110-HGNC_26300-Orphanet_100033-HP_0000007-GENCC_100009"	"HGNC:26300"	"ODAPH"	"MONDO:0015048"	"amelogenesis imperfecta type 2"	"Orphanet:100033"	"Orphanet:100033"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26300"	"ODAPH"	"Orphanet:100033"	"Hypomaturation amelogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22901946[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21411"	"2021-09-14"
"GENCC_000110-HGNC_5724-Orphanet_974-HP_0000006-GENCC_100009"	"HGNC:5724"	"RBPJ"	"MONDO:0007034"	"Adams-Oliver syndrome"	"Orphanet:974"	"Orphanet:974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5724"	"RBPJ"	"Orphanet:974"	"Adams-Oliver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22883147[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21412"	"2021-09-14"
"GENCC_000110-HGNC_8881-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:8881"	"PFN1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8881"	"PFN1"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22801503[PMID]_23428184[PMID]_24085347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21413"	"2021-09-14"
"GENCC_000110-HGNC_14153-Orphanet_319160-HP_0000006-GENCC_100009"	"HGNC:14153"	"CCDC78"	"MONDO:0013890"	"congenital myopathy with internal nuclei and atypical cores"	"Orphanet:319160"	"Orphanet:319160"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14153"	"CCDC78"	"Orphanet:319160"	"Congenital myopathy with internal nuclei and atypical cores"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22818856[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21415"	"2021-09-14"
"GENCC_000110-HGNC_25902-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:25902"	"POMGNT2"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25902"	"POMGNT2"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22958903[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21416"	"2021-09-14"
"GENCC_000110-HGNC_17877-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:17877"	"NMNAT1"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17877"	"NMNAT1"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28369829[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21417"	"2021-09-14"
"GENCC_000110-HGNC_17877-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:17877"	"NMNAT1"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17877"	"NMNAT1"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22842227[PMID]_25685757[PMID]_20301475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21417"	"2021-09-14"
"GENCC_000110-HGNC_25355-Orphanet_309854-HP_0000007-GENCC_100009"	"HGNC:25355"	"SLC30A10"	"MONDO:0013208"	"cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome"	"Orphanet:309854"	"Orphanet:309854"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25355"	"SLC30A10"	"Orphanet:309854"	"Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22341972[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21419"	"2021-09-14"
"GENCC_000110-HGNC_6139-Orphanet_306504-HP_0000007-GENCC_100009"	"HGNC:6139"	"ITGA3"	"MONDO:0013881"	"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"Orphanet:306504"	"Orphanet:306504"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6139"	"ITGA3"	"Orphanet:306504"	"Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22512183[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21420"	"2021-09-14"
"GENCC_000110-HGNC_22197-Orphanet_306511-HP_0000007-GENCC_100009"	"HGNC:22197"	"AP5Z1"	"MONDO:0013342"	"hereditary spastic paraplegia 48"	"Orphanet:306511"	"Orphanet:306511"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22197"	"AP5Z1"	"Orphanet:306511"	"Autosomal recessive spastic paraplegia type 48"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20613862[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21421"	"2021-09-14"
"GENCC_000110-HGNC_103-Orphanet_34527-HP_0000006-GENCC_100009"	"HGNC:103"	"CNNM2"	"MONDO:0018101"	"familial primary hypomagnesemia with normocalciuria and normocalcemia"	"Orphanet:34527"	"Orphanet:34527"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:103"	"CNNM2"	"Orphanet:34527"	"Familial primary hypomagnesemia with normocalciuria and normocalcemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21397062[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21422"	"2021-09-14"
"GENCC_000110-HGNC_5111-Orphanet_306530-HP_0000007-GENCC_100009"	"HGNC:5111"	"HOXB1"	"MONDO:0017627"	"congenital hereditary facial paralysis-variable hearing loss syndrome"	"Orphanet:306530"	"Orphanet:306530"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5111"	"HOXB1"	"Orphanet:306530"	"Congenital hereditary facial paralysis-variable hearing loss syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22770981[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21423"	"2021-09-14"
"GENCC_000110-HGNC_1494-Orphanet_306542-HP_0000007-GENCC_100009"	"HGNC:1494"	"ALX1"	"MONDO:0013271"	"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	"Orphanet:306542"	"Orphanet:306542"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1494"	"ALX1"	"Orphanet:306542"	"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20451171[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21424"	"2021-09-14"
"GENCC_000110-HGNC_15532-Orphanet_306547-HP_0000007-GENCC_100009"	"HGNC:15532"	"JAM3"	"MONDO:0013394"	"porencephaly-microcephaly-bilateral congenital cataract syndrome"	"Orphanet:306547"	"Orphanet:306547"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15532"	"JAM3"	"Orphanet:306547"	"Porencephaly-microcephaly-bilateral congenital cataract syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21109224[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21425"	"2021-09-14"
"GENCC_000110-HGNC_3573-Orphanet_306550-HP_0000007-GENCC_100009"	"HGNC:3573"	"FADD"	"MONDO:0013408"	"FADD-related immunodeficiency"	"Orphanet:306550"	"Orphanet:306550"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3573"	"FADD"	"Orphanet:306550"	"FADD-related immunodeficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21109225[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21426"	"2021-09-14"
"GENCC_000110-HGNC_10896-Orphanet_2462-HP_0000006-GENCC_100009"	"HGNC:10896"	"SKI"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"Orphanet:2462"	"Orphanet:2462"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10896"	"SKI"	"Orphanet:2462"	"Shprintzen-Goldberg syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23023332[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21427"	"2021-09-14"
"GENCC_000110-HGNC_25532-Orphanet_254343-HP_0000007-GENCC_100009"	"HGNC:25532"	"MTPAP"	"MONDO:0013354"	"spastic ataxia 4"	"Orphanet:254343"	"Orphanet:254343"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25532"	"MTPAP"	"Orphanet:254343"	"Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20970105[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21429"	"2021-09-14"
"GENCC_000110-HGNC_18550-Orphanet_306558-HP_0000007-GENCC_100009"	"HGNC:18550"	"IER3IP1"	"MONDO:0013647"	"primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"	"Orphanet:306558"	"Orphanet:306558"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18550"	"IER3IP1"	"Orphanet:306558"	"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21835305[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21430"	"2021-09-14"
"GENCC_000110-HGNC_816-Orphanet_314978-HP_0001417-GENCC_100009"	"HGNC:816"	"ATP2B3"	"MONDO:0010404"	"X-linked non progressive cerebellar ataxia"	"Orphanet:314978"	"Orphanet:314978"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:816"	"ATP2B3"	"Orphanet:314978"	"X-linked non progressive cerebellar ataxia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21434"	"2021-09-14"
"GENCC_000110-HGNC_16075-Orphanet_178355-HP_0000007-GENCC_100009"	"HGNC:16075"	"RAB33B"	"MONDO:0015799"	"Smith-McCort dysplasia"	"Orphanet:178355"	"Orphanet:178355"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16075"	"RAB33B"	"Orphanet:178355"	"Smith-McCort dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22652534[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21435"	"2021-09-14"
"GENCC_000110-HGNC_2191-Orphanet_79501-HP_0000006-GENCC_100009"	"HGNC:2191"	"COL14A1"	"MONDO:0019332"	"punctate palmoplantar keratoderma type 1"	"Orphanet:79501"	"Orphanet:79501"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2191"	"COL14A1"	"Orphanet:79501"	"Punctate palmoplantar keratoderma type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22972947[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21446"	"2021-09-14"
"GENCC_000110-HGNC_16902-Orphanet_308410-HP_0000007-GENCC_100009"	"HGNC:16902"	"BCKDK"	"MONDO:0013970"	"branched-chain keto acid dehydrogenase kinase deficiency"	"Orphanet:308410"	"Orphanet:308410"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16902"	"BCKDK"	"Orphanet:308410"	"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22956686[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21447"	"2021-09-14"
"GENCC_000110-HGNC_16762-Orphanet_2318-HP_0000007-GENCC_100009"	"HGNC:16762"	"ZNF423"	"MONDO:0009480"	"Joubert syndrome with oculorenal defect"	"Orphanet:2318"	"Orphanet:2318"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16762"	"ZNF423"	"Orphanet:2318"	"Joubert syndrome with oculorenal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22863007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21454"	"2021-09-14"
"GENCC_000110-HGNC_16762-Orphanet_93591-HP_0000007-GENCC_100009"	"HGNC:16762"	"ZNF423"	"MONDO:0011190"	"nephronophthisis 2"	"Orphanet:93591"	"Orphanet:93591"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16762"	"ZNF423"	"Orphanet:93591"	"Infantile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22863007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21454"	"2021-09-14"
"GENCC_000110-HGNC_29182-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:29182"	"CEP164"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29182"	"CEP164"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22863007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21455"	"2021-09-14"
"GENCC_000110-HGNC_7160-Orphanet_371428-HP_0000007-GENCC_100009"	"HGNC:7160"	"MMP14"	"MONDO:0018298"	"multicentric osteolysis-nodulosis-arthropathy spectrum"	"Orphanet:371428"	"Orphanet:371428"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7160"	"MMP14"	"Orphanet:371428"	"Multicentric osteolysis-nodulosis-arthropathy spectrum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22922033[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21522"	"2021-09-14"
"GENCC_000110-HGNC_12642-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:12642"	"VAMP1"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12642"	"VAMP1"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28253535[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21536"	"2021-09-14"
"GENCC_000110-HGNC_12642-Orphanet_251282-HP_0000006-GENCC_100009"	"HGNC:12642"	"VAMP1"	"MONDO:0007164"	"spastic ataxia 1"	"Orphanet:251282"	"Orphanet:251282"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12642"	"VAMP1"	"Orphanet:251282"	"Autosomal dominant spastic ataxia type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22958904[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21536"	"2021-09-14"
"GENCC_000110-HGNC_1268-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:1268"	"TSPEAR"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1268"	"TSPEAR"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22678063[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21541"	"2021-09-14"
"GENCC_000110-HGNC_21062-Orphanet_319519-HP_0000007-GENCC_100009"	"HGNC:21062"	"FARS2"	"MONDO:0013986"	"combined oxidative phosphorylation defect type 14"	"Orphanet:319519"	"Orphanet:319519"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21062"	"FARS2"	"Orphanet:319519"	"Combined oxidative phosphorylation defect type 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22499341[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21551"	"2021-09-14"
"GENCC_000110-HGNC_21062-Orphanet_466722-HP_0000007-GENCC_100009"	"HGNC:21062"	"FARS2"	"MONDO:0014882"	"hereditary spastic paraplegia 77"	"Orphanet:466722"	"Orphanet:466722"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21062"	"FARS2"	"Orphanet:466722"	"Autosomal recessive spastic paraplegia type 77"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26553276[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21551"	"2021-09-14"
"GENCC_000110-HGNC_17748-Orphanet_857-HP_0000006-GENCC_100009"	"HGNC:17748"	"DACT1"	"MONDO:0007142"	"Townes-Brocks syndrome"	"Orphanet:857"	"Orphanet:857"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17748"	"DACT1"	"Orphanet:857"	"Townes-Brocks syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28054444[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21552"	"2021-09-14"
"GENCC_000110-HGNC_68-Orphanet_369955-HP_0000007-GENCC_100009"	"HGNC:68"	"ABCD4"	"MONDO:0013925"	"methylmalonic acidemia with homocystinuria, type cblJ"	"Orphanet:369955"	"Orphanet:369955"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:68"	"ABCD4"	"Orphanet:369955"	"Methylmalonic acidemia with homocystinuria, type cblJ"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22922874[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21553"	"2021-09-14"
"GENCC_000110-HGNC_21033-Orphanet_464282-HP_0000007-GENCC_100009"	"HGNC:21033"	"HACE1"	"MONDO:0014764"	"spastic paraplegia-severe developmental delay-epilepsy syndrome"	"Orphanet:464282"	"Orphanet:464282"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21033"	"HACE1"	"Orphanet:464282"	"Spastic paraplegia-severe developmental delay-epilepsy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26424145[PMID]_26437029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21554"	"2021-09-14"
"GENCC_000110-HGNC_4053-Orphanet_319563-HP_0000007-GENCC_100009"	"HGNC:4053"	"ISG15"	"MONDO:0014502"	"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"	"Orphanet:319563"	"Orphanet:319563"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4053"	"ISG15"	"Orphanet:319563"	"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22859821[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21556"	"2021-09-14"
"GENCC_000110-HGNC_5358-Orphanet_319600-HP_0000006-GENCC_100009"	"HGNC:5358"	"IRF8"	"MONDO:0013957"	"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"	"Orphanet:319600"	"Orphanet:319600"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5358"	"IRF8"	"Orphanet:319600"	"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21557"	"2021-09-14"
"GENCC_000110-HGNC_24054-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:24054"	"KNL1"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24054"	"KNL1"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21558"	"2021-09-14"
"GENCC_000110-HGNC_26013-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:26013"	"DNAAF5"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26013"	"DNAAF5"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23040496[PMID]_20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21559"	"2021-09-14"
"GENCC_000110-HGNC_24488-Orphanet_314394-HP_0000007-GENCC_100009"	"HGNC:24488"	"POC1A"	"MONDO:0013894"	"short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"	"Orphanet:314394"	"Orphanet:314394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24488"	"POC1A"	"Orphanet:314394"	"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22840363[PMID]_22840364[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21560"	"2021-09-14"
"GENCC_000110-HGNC_24579-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:24579"	"CIB2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24579"	"CIB2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23023331[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21566"	"2021-09-14"
"GENCC_000110-HGNC_24579-Orphanet_231169-HP_0000007-GENCC_100009"	"HGNC:24579"	"CIB2"	"MONDO:0010168"	"Usher syndrome type 1"	"Orphanet:231169"	"Orphanet:231169"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24579"	"CIB2"	"Orphanet:231169"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23023331[PMID]_20301442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21566"	"2021-09-14"
"GENCC_000110-HGNC_19368-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:19368"	"HYDIN"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19368"	"HYDIN"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23022101[PMID]_20301301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21567"	"2021-09-14"
"GENCC_000110-HGNC_1385-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:1385"	"CABP2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1385"	"CABP2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22981119[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21568"	"2021-09-14"
"GENCC_000110-HGNC_4839-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:4839"	"HCFC1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4839"	"HCFC1"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23000143[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21569"	"2021-09-14"
"GENCC_000110-HGNC_4839-Orphanet_369962-HP_0001417-GENCC_100009"	"HGNC:4839"	"HCFC1"	"MONDO:0010657"	"methylmalonic acidemia with homocystinuria, type cblX"	"Orphanet:369962"	"Orphanet:369962"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:4839"	"HCFC1"	"Orphanet:369962"	"Methylmalonic acidemia with homocystinuria, type cblX"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24011988[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21569"	"2021-09-14"
"GENCC_000110-HGNC_25662-Orphanet_79501-HP_0000006-GENCC_100009"	"HGNC:25662"	"AAGAB"	"MONDO:0019332"	"punctate palmoplantar keratoderma type 1"	"Orphanet:79501"	"Orphanet:79501"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25662"	"AAGAB"	"Orphanet:79501"	"Punctate palmoplantar keratoderma type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23000146[PMID]_23064416[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21570"	"2021-09-14"
"GENCC_000110-HGNC_8853-Orphanet_912-HP_0000007-GENCC_100009"	"HGNC:8853"	"PEX11B"	"MONDO:0019609"	"Zellweger spectrum disorders"	"Orphanet:912"	"Orphanet:912"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8853"	"PEX11B"	"Orphanet:912"	"Zellweger syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22581968[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21571"	"2021-09-14"
"GENCC_000110-HGNC_18865-Orphanet_98784-HP_0000006-GENCC_100009"	"HGNC:18865"	"KCNT1"	"MONDO:0020300"	"autosomal dominant nocturnal frontal lobe epilepsy"	"Orphanet:98784"	"Orphanet:98784"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18865"	"KCNT1"	"Orphanet:98784"	"Autosomal dominant nocturnal frontal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23086396[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21573"	"2021-09-14"
"GENCC_000110-HGNC_18865-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:18865"	"KCNT1"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18865"	"KCNT1"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23086397[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21573"	"2021-09-14"
"GENCC_000110-HGNC_1442-Orphanet_3286-HP_0000006-GENCC_100009"	"HGNC:1442"	"CALM1"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"Orphanet:3286"	"Orphanet:3286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1442"	"CALM1"	"Orphanet:3286"	"Catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23040497[PMID]_20301466[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21574"	"2021-09-14"
"GENCC_000110-HGNC_5125-Orphanet_69084-HP_0000006-GENCC_100009"	"HGNC:5125"	"HOXC13"	"MONDO:0019071"	"pure hair and nail ectodermal dysplasia"	"Orphanet:69084"	"Orphanet:69084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5125"	"HOXC13"	"Orphanet:69084"	"Pure hair and nail ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23063621[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21586"	"2021-09-14"
"GENCC_000110-HGNC_8516-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:8516"	"OTOG"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8516"	"OTOG"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23122587[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21587"	"2021-09-14"
"GENCC_000110-HGNC_23166-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:23166"	"PNPT1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23166"	"PNPT1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23084290[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21588"	"2021-09-14"
"GENCC_000110-HGNC_26901-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:26901"	"OTOGL"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26901"	"OTOGL"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23122586[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21589"	"2021-09-14"
"GENCC_000110-HGNC_10327-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10327"	"RPL26"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10327"	"RPL26"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]_22431104[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21590"	"2021-09-14"
"GENCC_000110-HGNC_13530-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:13530"	"RXYLT1"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13530"	"RXYLT1"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23217329[PMID]_23519211[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21591"	"2021-09-14"
"GENCC_000110-HGNC_25133-Orphanet_314603-HP_0000007-GENCC_100009"	"HGNC:25133"	"MARS2"	"MONDO:0012664"	"spastic ataxia 3"	"Orphanet:314603"	"Orphanet:314603"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25133"	"MARS2"	"Orphanet:314603"	"Autosomal recessive spastic ataxia with leukoencephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22448145[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21592"	"2021-09-14"
"GENCC_000110-HGNC_25133-Orphanet_447954-HP_0000007-GENCC_100009"	"HGNC:25133"	"MARS2"	"MONDO:0014636"	"combined oxidative phosphorylation defect type 25"	"Orphanet:447954"	"Orphanet:447954"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25133"	"MARS2"	"Orphanet:447954"	"Combined oxidative phosphorylation defect type 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25754315[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21592"	"2021-09-14"
"GENCC_000110-HGNC_2433-Orphanet_313808-HP_0000006-GENCC_100009"	"HGNC:2433"	"CSF1R"	"MONDO:0009096"	"hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"	"Orphanet:313808"	"Orphanet:313808"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2433"	"CSF1R"	"Orphanet:313808"	"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22197934[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21593"	"2021-09-14"
"GENCC_000110-HGNC_2433-Orphanet_556985-HP_0000007-GENCC_100009"	"HGNC:2433"	"CSF1R"	"MONDO:0034143"	"early-onset calcifying leukoencephalopathy-skeletal dysplasia"	"Orphanet:556985"	"Orphanet:556985"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2433"	"CSF1R"	"Orphanet:556985"	"Early-onset calcifying leukoencephalopathy-skeletal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30982608[PMID]_30982609[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21593"	"2021-09-14"
"GENCC_000110-HGNC_26169-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:26169"	"CTC1"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26169"	"CTC1"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301779[PMID]_22532422[PMID]_22556055[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21594"	"2021-09-14"
"GENCC_000110-HGNC_26169-Orphanet_313838-HP_0000007-GENCC_100009"	"HGNC:26169"	"CTC1"	"MONDO:0012815"	"Coats plus syndrome"	"Orphanet:313838"	"Orphanet:313838"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26169"	"CTC1"	"Orphanet:313838"	"Coats plus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22267198[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21594"	"2021-09-14"
"GENCC_000110-HGNC_118-Orphanet_98676-HP_0000007-GENCC_100009"	"HGNC:118"	"ACO2"	"MONDO:0014753"	"autosomal recessive optic atrophy"	"Orphanet:98676"	"Orphanet:98676"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:118"	"ACO2"	"Orphanet:98676"	"Autosomal recessive isolated optic atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25351951[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21595"	"2021-09-14"
"GENCC_000110-HGNC_118-Orphanet_313850-HP_0000007-GENCC_100009"	"HGNC:118"	"ACO2"	"MONDO:0013802"	"infantile cerebellar-retinal degeneration"	"Orphanet:313850"	"Orphanet:313850"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:118"	"ACO2"	"Orphanet:313850"	"Infantile cerebellar-retinal degeneration"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22405087[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21595"	"2021-09-14"
"GENCC_000110-HGNC_11201-Orphanet_313892-HP_0000006-GENCC_100009"	"HGNC:11201"	"SOX5"	"MONDO:0017782"	"developmental and speech delay due to SOX5 deficiency"	"Orphanet:313892"	"Orphanet:313892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11201"	"SOX5"	"Orphanet:313892"	"Developmental and speech delay due to SOX5 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22290657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21596"	"2021-09-14"
"GENCC_000110-HGNC_4688-Orphanet_103908-HP_0000006-GENCC_100009"	"HGNC:4688"	"GUCY2C"	"MONDO:0015170"	"congenital sodium diarrhea"	"Orphanet:103908"	"Orphanet:103908"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4688"	"GUCY2C"	"Orphanet:103908"	"Congenital sodium diarrhea"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25994218[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21598"	"2021-09-14"
"GENCC_000110-HGNC_4688-Orphanet_314373-HP_0000006-GENCC_100009"	"HGNC:4688"	"GUCY2C"	"MONDO:0013825"	"congenital diarrhea 6"	"Orphanet:314373"	"Orphanet:314373"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4688"	"GUCY2C"	"Orphanet:314373"	"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22436048[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21598"	"2021-09-14"
"GENCC_000110-HGNC_4688-Orphanet_314376-HP_0000007-GENCC_100009"	"HGNC:4688"	"GUCY2C"	"MONDO:0013843"	"intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"	"Orphanet:314376"	"Orphanet:314376"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4688"	"GUCY2C"	"Orphanet:314376"	"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22521417[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21598"	"2021-09-14"
"GENCC_000110-HGNC_11303-Orphanet_314399-HP_0000006-GENCC_100009"	"HGNC:11303"	"SRP72"	"MONDO:0013851"	"autosomal dominant aplasia and myelodysplasia"	"Orphanet:314399"	"Orphanet:314399"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11303"	"SRP72"	"Orphanet:314399"	"Autosomal dominant aplasia and myelodysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22541560[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21599"	"2021-09-14"
"GENCC_000110-HGNC_5228-Orphanet_314485-HP_0000007-GENCC_100009"	"HGNC:5228"	"DNAJB2"	"MONDO:0013947"	"neuronopathy, distal hereditary motor, autosomal recessive 5"	"Orphanet:314485"	"Orphanet:314485"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5228"	"DNAJB2"	"Orphanet:314485"	"Young adult-onset distal hereditary motor neuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22522442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21600"	"2021-09-14"
"GENCC_000110-HGNC_5228-Orphanet_443950-HP_0000007-GENCC_100009"	"HGNC:5228"	"DNAJB2"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"Orphanet:443950"	"Orphanet:443950"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5228"	"DNAJB2"	"Orphanet:443950"	"DNAJB2-related Charcot-Marie-Tooth disease type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25274842[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21600"	"2021-09-14"
"GENCC_000110-HGNC_14361-Orphanet_314555-HP_0000007-GENCC_100009"	"HGNC:14361"	"IRX5"	"MONDO:0012634"	"craniofacial dysplasia - osteopenia syndrome"	"Orphanet:314555"	"Orphanet:314555"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14361"	"IRX5"	"Orphanet:314555"	"Craniofacial dysplasia-osteopenia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22581230[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21601"	"2021-09-14"
"GENCC_000110-HGNC_19261-Orphanet_314637-HP_0000005-GENCC_100009"	"HGNC:19261"	"MTO1"	"MONDO:0013865"	"mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"	"Orphanet:314637"	"Orphanet:314637"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:19261"	"MTO1"	"Orphanet:314637"	"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21602"	"2021-09-14"
"GENCC_000110-HGNC_18806-Orphanet_314647-HP_0000006-GENCC_100009"	"HGNC:18806"	"CAMTA1"	"MONDO:0013886"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"Orphanet:314647"	"Orphanet:314647"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18806"	"CAMTA1"	"Orphanet:314647"	"Non-progressive cerebellar ataxia with intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22693284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21603"	"2021-09-14"
"GENCC_000110-HGNC_914-Orphanet_34592-HP_0000007-GENCC_100009"	"HGNC:914"	"B2M"	"MONDO:0011476"	"MHC class I deficiency"	"Orphanet:34592"	"Orphanet:34592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:914"	"B2M"	"Orphanet:34592"	"Immunodeficiency by defective expression of MHC class I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25702838[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21604"	"2021-09-14"
"GENCC_000110-HGNC_914-Orphanet_314652-HP_0000006-GENCC_100009"	"HGNC:914"	"B2M"	"MONDO:0017810"	"variant ABeta2M amyloidosis"	"Orphanet:314652"	"Orphanet:314652"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:914"	"B2M"	"Orphanet:314652"	"Variant ABeta2M amyloidosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22693999[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21604"	"2021-09-14"
"GENCC_000110-HGNC_30760-Orphanet_314667-HP_0000007-GENCC_100009"	"HGNC:30760"	"TMEM165"	"MONDO:0013870"	"TMEM165-congenital disorder of glycosylation"	"Orphanet:314667"	"Orphanet:314667"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30760"	"TMEM165"	"Orphanet:314667"	"TMEM165-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22683087[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21605"	"2021-09-14"
"GENCC_000110-HGNC_11408-Orphanet_314689-HP_0000007-GENCC_100009"	"HGNC:11408"	"STK4"	"MONDO:0013934"	"combined immunodeficiency due to STK4 deficiency"	"Orphanet:314689"	"Orphanet:314689"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11408"	"STK4"	"Orphanet:314689"	"Combined immunodeficiency due to STK4 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22294732[PMID]_22174160[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21606"	"2021-09-14"
"GENCC_000110-HGNC_13176-Orphanet_317473-HP_0000006-GENCC_100009"	"HGNC:13176"	"IKZF1"	"MONDO:0014810"	"pancytopenia due to IKZF1 mutations"	"Orphanet:317473"	"Orphanet:317473"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13176"	"IKZF1"	"Orphanet:317473"	"Pancytopenia due to IKZF1 mutations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21548011[PMID]_26981933[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21608"	"2021-09-14"
"GENCC_000110-HGNC_9413-Orphanet_317425-HP_0000007-GENCC_100009"	"HGNC:9413"	"PRKDC"	"MONDO:0014423"	"severe combined immunodeficiency due to DNA-PKcs deficiency"	"Orphanet:317425"	"Orphanet:317425"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9413"	"PRKDC"	"Orphanet:317425"	"Severe combined immunodeficiency due to DNA-PKcs deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19823081[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21609"	"2021-09-14"
"GENCC_000110-HGNC_3233-Orphanet_65759-HP_0000007-GENCC_100009"	"HGNC:3233"	"MEGF8"	"MONDO:0019012"	"Carpenter syndrome"	"Orphanet:65759"	"Orphanet:65759"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3233"	"MEGF8"	"Orphanet:65759"	"Carpenter syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23063620[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21612"	"2021-09-14"
"GENCC_000110-HGNC_33499-Orphanet_808-HP_0000007-GENCC_100009"	"HGNC:33499"	"ATRIP"	"MONDO:0019342"	"Seckel syndrome"	"Orphanet:808"	"Orphanet:808"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33499"	"ATRIP"	"Orphanet:808"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23144622[PMID]_20301772[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21613"	"2021-09-14"
"GENCC_000110-HGNC_30778-Orphanet_363686-HP_0000006-GENCC_100009"	"HGNC:30778"	"GATAD2B"	"MONDO:0014034"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"Orphanet:363686"	"Orphanet:363686"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30778"	"GATAD2B"	"Orphanet:363686"	"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23644463[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21614"	"2021-09-14"
"GENCC_000110-HGNC_11584-Orphanet_275872-HP_0000006-GENCC_100009"	"HGNC:11584"	"TBK1"	"MONDO:0017161"	"frontotemporal dementia with motor neuron disease"	"Orphanet:275872"	"Orphanet:275872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11584"	"TBK1"	"Orphanet:275872"	"Frontotemporal dementia with motor neuron disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25803835[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21615"	"2021-09-14"
"GENCC_000110-HGNC_18654-Orphanet_468631-HP_0000007-GENCC_100009"	"HGNC:18654"	"RTTN"	"MONDO:0018764"	"microcephalic primordial dwarfism due to RTTN deficiency"	"Orphanet:468631"	"Orphanet:468631"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18654"	"RTTN"	"Orphanet:468631"	"Microcephalic cortical malformations-short stature due to RTTN deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26608784[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21616"	"2021-09-14"
"GENCC_000110-HGNC_28927-Orphanet_170-HP_0000006-GENCC_100009"	"HGNC:28927"	"KRT71"	"MONDO:0008686"	"isolated familial wooly hair disorder"	"Orphanet:170"	"Orphanet:170"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28927"	"KRT71"	"Orphanet:170"	"Woolly hair"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22592156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21617"	"2021-09-14"
"GENCC_000110-HGNC_29090-Orphanet_269-HP_0000006-GENCC_100009"	"HGNC:29090"	"SMCHD1"	"MONDO:0001347"	"facioscapulohumeral muscular dystrophy"	"Orphanet:269"	"Orphanet:269"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29090"	"SMCHD1"	"Orphanet:269"	"Facioscapulohumeral dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23143600[PMID]_24128691[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21703"	"2021-09-14"
"GENCC_000110-HGNC_29090-Orphanet_2250-HP_0000006-GENCC_100009"	"HGNC:29090"	"SMCHD1"	"MONDO:0016393"	"hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"	"Orphanet:2250"	"Orphanet:2250"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29090"	"SMCHD1"	"Orphanet:2250"	"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28067911_28067909[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21703"	"2021-09-14"
"GENCC_000110-HGNC_20577-Orphanet_398189-HP_0000007-GENCC_100009"	"HGNC:20577"	"CYP26C1"	"MONDO:0013997"	"focal facial dermal dysplasia type IV"	"Orphanet:398189"	"Orphanet:398189"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20577"	"CYP26C1"	"Orphanet:398189"	"Focal facial dermal dysplasia type IV"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23161670[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21704"	"2021-09-14"
"GENCC_000110-HGNC_21297-Orphanet_444-HP_0000006-GENCC_100009"	"HGNC:21297"	"EPS8L3"	"MONDO:0018631"	"Marie Unna hereditary hypotrichosis"	"Orphanet:444"	"Orphanet:444"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21297"	"EPS8L3"	"Orphanet:444"	"Marie Unna hereditary hypotrichosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23099647[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21724"	"2021-09-14"
"GENCC_000110-HGNC_14103-Orphanet_140481-HP_0000006-GENCC_100009"	"HGNC:14103"	"ARHGEF10"	"MONDO:0011998"	"autosomal dominant slowed nerve conduction velocity"	"Orphanet:140481"	"Orphanet:140481"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14103"	"ARHGEF10"	"Orphanet:140481"	"Autosomal dominant slowed nerve conduction velocity"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14508709[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21726"	"2021-09-14"
"GENCC_000110-HGNC_19967-Orphanet_423275-HP_0000006-GENCC_100009"	"HGNC:19967"	"CCDC88C"	"MONDO:0014475"	"spinocerebellar ataxia type 40"	"Orphanet:423275"	"Orphanet:423275"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19967"	"CCDC88C"	"Orphanet:423275"	"Spinocerebellar ataxia type 40"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25062847[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21727"	"2021-09-14"
"GENCC_000110-HGNC_14004-Orphanet_420485-HP_0000006-GENCC_100009"	"HGNC:14004"	"ANO3"	"MONDO:0014019"	"dystonia 24"	"Orphanet:420485"	"Orphanet:420485"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14004"	"ANO3"	"Orphanet:420485"	"Cranio-cervical dystonia with laryngeal and upper-limb involvement"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23200863[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21729"	"2021-09-14"
"GENCC_000110-HGNC_23537-Orphanet_329258-HP_0000006-GENCC_100009"	"HGNC:23537"	"DHTKD1"	"MONDO:0014012"	"Charcot-Marie-Tooth disease axonal type 2Q"	"Orphanet:329258"	"Orphanet:329258"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23537"	"DHTKD1"	"Orphanet:329258"	"Autosomal dominant Charcot-Marie-Tooth disease type 2Q"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23141294[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21730"	"2021-09-14"
"GENCC_000110-HGNC_14025-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:14025"	"SLC5A7"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14025"	"SLC5A7"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27569547[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21731"	"2021-09-14"
"GENCC_000110-HGNC_14025-Orphanet_139589-HP_0000006-GENCC_100009"	"HGNC:14025"	"SLC5A7"	"MONDO:0015355"	"distal hereditary motor neuropathy type 7"	"Orphanet:139589"	"Orphanet:139589"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14025"	"SLC5A7"	"Orphanet:139589"	"Distal hereditary motor neuropathy type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23141292[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21731"	"2021-09-14"
"GENCC_000110-HGNC_145-Orphanet_2604-HP_0000006-GENCC_100009"	"HGNC:145"	"ACTG2"	"MONDO:0016829"	"familial visceral myopathy"	"Orphanet:2604"	"Orphanet:2604"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:145"	"ACTG2"	"Orphanet:2604"	"Familial visceral myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22960657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21732"	"2021-09-14"
"GENCC_000110-HGNC_145-Orphanet_2241-HP_0000006-GENCC_100009"	"HGNC:145"	"ACTG2"	"MONDO:0007960"	"megacystis-microcolon-intestinal hypoperistalsis syndrome"	"Orphanet:2241"	"Orphanet:2241"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:145"	"ACTG2"	"Orphanet:2241"	"Megacystis-microcolon-intestinal hypoperistalsis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24676022[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21732"	"2021-09-14"
"GENCC_000110-HGNC_37234-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:37234"	"TMEM231"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:37234"	"TMEM231"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23349226[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21736"	"2021-09-14"
"GENCC_000110-HGNC_37234-Orphanet_2318-HP_0000007-GENCC_100009"	"HGNC:37234"	"TMEM231"	"MONDO:0009480"	"Joubert syndrome with oculorenal defect"	"Orphanet:2318"	"Orphanet:2318"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:37234"	"TMEM231"	"Orphanet:2318"	"Joubert syndrome with oculorenal defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301500[PMID]_23012439[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21736"	"2021-09-14"
"GENCC_000110-HGNC_37234-Orphanet_2752-HP_0000007-GENCC_100009"	"HGNC:37234"	"TMEM231"	"MONDO:0009793"	"orofaciodigital syndrome III"	"Orphanet:2752"	"Orphanet:2752"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:37234"	"TMEM231"	"Orphanet:2752"	"Orofaciodigital syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25869670[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21736"	"2021-09-14"
"GENCC_000110-HGNC_20582-Orphanet_320411-HP_0000007-GENCC_100009"	"HGNC:20582"	"CYP2U1"	"MONDO:0014015"	"hereditary spastic paraplegia 56"	"Orphanet:320411"	"Orphanet:320411"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20582"	"CYP2U1"	"Orphanet:320411"	"Autosomal recessive spastic paraplegia type 56"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23176821[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21737"	"2021-09-14"
"GENCC_000110-HGNC_29106-Orphanet_320380-HP_0000007-GENCC_100009"	"HGNC:29106"	"DDHD2"	"MONDO:0014018"	"hereditary spastic paraplegia 54"	"Orphanet:320380"	"Orphanet:320380"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29106"	"DDHD2"	"Orphanet:320380"	"Autosomal recessive spastic paraplegia type 54"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23176823[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21738"	"2021-09-14"
"GENCC_000110-HGNC_19957-Orphanet_320385-HP_0000007-GENCC_100009"	"HGNC:19957"	"TECPR2"	"MONDO:0014016"	"hereditary spastic paraplegia 49"	"Orphanet:320385"	"Orphanet:320385"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19957"	"TECPR2"	"Orphanet:320385"	"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23176824[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21740"	"2021-09-14"
"GENCC_000110-HGNC_30225-Orphanet_411712-HP_0000006-GENCC_100009"	"HGNC:30225"	"SLC52A1"	"MONDO:0014013"	"maternal riboflavin deficiency"	"Orphanet:411712"	"Orphanet:411712"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30225"	"SLC52A1"	"Orphanet:411712"	"Maternal riboflavin deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17689999[PMID]_21089064[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21742"	"2021-09-14"
"GENCC_000110-HGNC_21246-Orphanet_79394-HP_0000007-GENCC_100009"	"HGNC:21246"	"PNPLA1"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"Orphanet:79394"	"Orphanet:79394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21246"	"PNPLA1"	"Orphanet:79394"	"Congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22246504[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21743"	"2021-09-14"
"GENCC_000110-HGNC_24783-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:24783"	"LRIT3"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24783"	"LRIT3"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23246293[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21744"	"2021-09-14"
"GENCC_000110-HGNC_7013-Orphanet_2345-HP_0000006-GENCC_100009"	"HGNC:7013"	"MEOX1"	"MONDO:0016520"	"isolated Klippel-Feil syndrome"	"Orphanet:2345"	"Orphanet:2345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7013"	"MEOX1"	"Orphanet:2345"	"Isolated Klippel-Feil syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23290072[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21747"	"2021-09-14"
"GENCC_000110-HGNC_11161-Orphanet_55654-HP_0000006-GENCC_100009"	"HGNC:11161"	"SNRPE"	"MONDO:0018914"	"hypotrichosis simplex"	"Orphanet:55654"	"Orphanet:55654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11161"	"SNRPE"	"Orphanet:55654"	"Hypotrichosis simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23246290[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21748"	"2021-09-14"
"GENCC_000110-HGNC_26560-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:26560"	"ODAD1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26560"	"ODAD1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23261303[PMID]_23261302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21750"	"2021-09-14"
"GENCC_000110-HGNC_3147-Orphanet_329457-HP_0000007-GENCC_100009"	"HGNC:3147"	"ECEL1"	"MONDO:0014028"	"distal arthrogryposis type 5D"	"Orphanet:329457"	"Orphanet:329457"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3147"	"ECEL1"	"Orphanet:329457"	"Distal arthrogryposis type 5D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23261301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21751"	"2021-09-14"
"GENCC_000110-HGNC_6080-Orphanet_2746-HP_0000007-GENCC_100009"	"HGNC:6080"	"INPPL1"	"MONDO:0009785"	"opsismodysplasia"	"Orphanet:2746"	"Orphanet:2746"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6080"	"INPPL1"	"Orphanet:2746"	"Opsismodysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23273567[PMID]_23263569[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21752"	"2021-09-14"
"GENCC_000110-HGNC_6080-Orphanet_3144-HP_0000007-GENCC_100009"	"HGNC:6080"	"INPPL1"	"MONDO:0010013"	"schneckenbecken dysplasia"	"Orphanet:3144"	"Orphanet:3144"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6080"	"INPPL1"	"Orphanet:3144"	"Schneckenbecken dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25997753[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21752"	"2021-09-14"
"GENCC_000110-HGNC_29331-Orphanet_1493-HP_0000007-GENCC_100009"	"HGNC:29331"	"EPG5"	"MONDO:0009452"	"Vici syndrome"	"Orphanet:1493"	"Orphanet:1493"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29331"	"EPG5"	"Orphanet:1493"	"Vici syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23222957[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21753"	"2021-09-14"
"GENCC_000110-HGNC_12926-Orphanet_93334-HP_0000007-GENCC_100009"	"HGNC:12926"	"ZNF141"	"MONDO:0019673"	"postaxial polydactyly type A"	"Orphanet:93334"	"Orphanet:93334"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12926"	"ZNF141"	"Orphanet:93334"	"Postaxial polydactyly type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26394607[PMID]_23160277[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21754"	"2021-09-14"
"GENCC_000110-HGNC_7869-Orphanet_319189-HP_0000006-GENCC_100009"	"HGNC:7869"	"NOL3"	"MONDO:0013981"	"myoclonus, familial"	"Orphanet:319189"	"Orphanet:319189"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7869"	"NOL3"	"Orphanet:319189"	"Familial cortical myoclonus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22926851[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21756"	"2021-09-14"
"GENCC_000110-HGNC_24928-Orphanet_319199-HP_0000007-GENCC_100009"	"HGNC:24928"	"VPS37A"	"MONDO:0013962"	"hereditary spastic paraplegia 53"	"Orphanet:319199"	"Orphanet:319199"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24928"	"VPS37A"	"Orphanet:319199"	"Autosomal recessive spastic paraplegia type 53"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22717650[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21757"	"2021-09-14"
"GENCC_000110-HGNC_2291-Orphanet_2556-HP_0001417-GENCC_100009"	"HGNC:2291"	"COX7B"	"MONDO:0010672"	"linear skin defects with multiple congenital anomalies"	"Orphanet:2556"	"Orphanet:2556"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2291"	"COX7B"	"Orphanet:2556"	"Microphthalmia with linear skin defects syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23122588[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21824"	"2021-09-14"
"GENCC_000110-HGNC_12036-Orphanet_1810-HP_0000006-GENCC_100009"	"HGNC:12036"	"TRAF6"	"MONDO:0015884"	"autosomal dominant hypohidrotic ectodermal dysplasia"	"Orphanet:1810"	"Orphanet:1810"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12036"	"TRAF6"	"Orphanet:1810"	"Autosomal dominant hypohidrotic ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21836"	"2021-09-14"
"GENCC_000110-HGNC_17756-Orphanet_181-HP_0001417-GENCC_100009"	"HGNC:17756"	"EDA2R"	"MONDO:0010585"	"X-linked hypohidrotic ectodermal dysplasia"	"Orphanet:181"	"Orphanet:181"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:17756"	"EDA2R"	"Orphanet:181"	"X-linked hypohidrotic ectodermal dysplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22889853[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21837"	"2021-09-14"
"GENCC_000110-HGNC_10582-Orphanet_306577-HP_0000006-GENCC_100009"	"HGNC:10582"	"SCN10A"	"MONDO:0017629"	"sodium channelopathy-related small fiber neuropathy"	"Orphanet:306577"	"Orphanet:306577"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10582"	"SCN10A"	"Orphanet:306577"	"Sodium channelopathy-related small fiber neuropathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23115331[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21860"	"2021-09-14"
"GENCC_000110-HGNC_26970-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:26970"	"COX20"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26970"	"COX20"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23125284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21861"	"2021-09-14"
"GENCC_000110-HGNC_25415-Orphanet_268162-HP_0000007-GENCC_100009"	"HGNC:25415"	"PPM1K"	"MONDO:0017052"	"intermediate maple syrup urine disease"	"Orphanet:268162"	"Orphanet:268162"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25415"	"PPM1K"	"Orphanet:268162"	"Intermediate maple syrup urine disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23086801[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21863"	"2021-09-14"
"GENCC_000110-HGNC_24160-Orphanet_217012-HP_0000006-GENCC_100009"	"HGNC:24160"	"BEAN1"	"MONDO:0007296"	"spinocerebellar ataxia type 31"	"Orphanet:217012"	"Orphanet:217012"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24160"	"BEAN1"	"Orphanet:217012"	"Spinocerebellar ataxia type 31"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17611710[PMID]_19878914[PMID]_22992774[PMID]_20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21866"	"2021-09-14"
"GENCC_000110-HGNC_3182-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:3182"	"PHC1"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3182"	"PHC1"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21867"	"2021-09-14"
"GENCC_000110-HGNC_2092-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:2092"	"CLTC"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2092"	"CLTC"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21870"	"2021-09-14"
"GENCC_000110-HGNC_2092-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:2092"	"CLTC"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2092"	"CLTC"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21870"	"2021-09-14"
"GENCC_000110-HGNC_7871-Orphanet_466791-HP_0001417-GENCC_100009"	"HGNC:7871"	"NONO"	"MONDO:0010501"	"syndromic X-linked intellectual disability 34"	"Orphanet:466791"	"Orphanet:466791"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:7871"	"NONO"	"Orphanet:466791"	"Macrocephaly-intellectual disability-left ventricular non compaction syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26571461[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21872"	"2021-09-14"
"GENCC_000110-HGNC_21086-Orphanet_54260-HP_0000006-GENCC_100009"	"HGNC:21086"	"MIB1"	"MONDO:0018901"	"left ventricular noncompaction"	"Orphanet:54260"	"Orphanet:54260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21086"	"MIB1"	"Orphanet:54260"	"Left ventricular noncompaction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23314057[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21873"	"2021-09-14"
"GENCC_000110-HGNC_37212-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:37212"	"KLLN"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:37212"	"KLLN"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21177507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21874"	"2021-09-14"
"GENCC_000110-HGNC_4593-Orphanet_324262-HP_0000007-GENCC_100009"	"HGNC:4593"	"GRM1"	"MONDO:0013905"	"autosomal recessive spinocerebellar ataxia 13"	"Orphanet:324262"	"Orphanet:324262"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4593"	"GRM1"	"Orphanet:324262"	"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22901947[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21875"	"2021-09-14"
"GENCC_000110-HGNC_26600-Orphanet_1766-HP_0000007-GENCC_100009"	"HGNC:26600"	"WDR81"	"MONDO:0009133"	"cerebellar ataxia, intellectual disability, and dysequilibrium"	"Orphanet:1766"	"Orphanet:1766"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26600"	"WDR81"	"Orphanet:1766"	"Dysequilibrium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21885617[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21876"	"2021-09-14"
"GENCC_000110-HGNC_1382-Orphanet_1766-HP_0000007-GENCC_100009"	"HGNC:1382"	"CA8"	"MONDO:0009133"	"cerebellar ataxia, intellectual disability, and dysequilibrium"	"Orphanet:1766"	"Orphanet:1766"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1382"	"CA8"	"Orphanet:1766"	"Dysequilibrium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21812104[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21877"	"2021-09-14"
"GENCC_000110-HGNC_13533-Orphanet_1766-HP_0000007-GENCC_100009"	"HGNC:13533"	"ATP8A2"	"MONDO:0009133"	"cerebellar ataxia, intellectual disability, and dysequilibrium"	"Orphanet:1766"	"Orphanet:1766"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13533"	"ATP8A2"	"Orphanet:1766"	"Dysequilibrium syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22892528[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21878"	"2021-09-14"
"GENCC_000110-HGNC_13993-Orphanet_324290-HP_0000007-GENCC_100009"	"HGNC:13993"	"PRDM8"	"MONDO:0014717"	"early-onset Lafora body disease"	"Orphanet:324290"	"Orphanet:324290"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13993"	"PRDM8"	"Orphanet:324290"	"Early-onset Lafora body disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22961547[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21879"	"2021-09-14"
"GENCC_000110-HGNC_686-Orphanet_324294-HP_0000007-GENCC_100009"	"HGNC:686"	"RHOH"	"MONDO:0017925"	"T-cell immunodeficiency with epidermodysplasia verruciformis"	"Orphanet:324294"	"Orphanet:324294"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:686"	"RHOH"	"Orphanet:324294"	"T-cell immunodeficiency with epidermodysplasia verruciformis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22850876[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21880"	"2021-09-14"
"GENCC_000110-HGNC_1391-Orphanet_324321-HP_0000007-GENCC_100009"	"HGNC:1391"	"CACNA1D"	"MONDO:0013960"	"sinoatrial node dysfunction and deafness"	"Orphanet:324321"	"Orphanet:324321"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1391"	"CACNA1D"	"Orphanet:324321"	"Sinoatrial node dysfunction and deafness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21131953[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21881"	"2021-09-14"
"GENCC_000110-HGNC_2063-Orphanet_324410-HP_0001417-GENCC_100009"	"HGNC:2063"	"CLIC2"	"MONDO:0010473"	"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"	"Orphanet:324410"	"Orphanet:324410"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2063"	"CLIC2"	"Orphanet:324410"	"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22814392[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21882"	"2021-09-14"
"GENCC_000110-HGNC_30881-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:30881"	"ALG13"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:30881"	"ALG13"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24501762[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21883"	"2021-09-14"
"GENCC_000110-HGNC_30881-Orphanet_324422-HP_0001417-GENCC_100009"	"HGNC:30881"	"ALG13"	"MONDO:0010472"	"developmental and epileptic encephalopathy, 36"	"Orphanet:324422"	"Orphanet:324422"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:30881"	"ALG13"	"Orphanet:324422"	"ALG13-CDG"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22492991[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21883"	"2021-09-14"
"GENCC_000110-HGNC_4912-Orphanet_324442-HP_0000007-GENCC_100009"	"HGNC:4912"	"HINT1"	"MONDO:0007646"	"Gamstorp-Wohlfart syndrome"	"Orphanet:324442"	"Orphanet:324442"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4912"	"HINT1"	"Orphanet:324442"	"Autosomal recessive axonal neuropathy with neuromyotonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22961002[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21884"	"2021-09-14"
"GENCC_000110-HGNC_21176-Orphanet_324535-HP_0000007-GENCC_100009"	"HGNC:21176"	"RMND1"	"MONDO:0013969"	"combined oxidative phosphorylation defect type 11"	"Orphanet:324535"	"Orphanet:324535"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21176"	"RMND1"	"Orphanet:324535"	"Combined oxidative phosphorylation defect type 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23022098[PMID]_23022099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21885"	"2021-09-14"
"GENCC_000110-HGNC_8740-Orphanet_324569-HP_0000007-GENCC_100009"	"HGNC:8740"	"CHMP1A"	"MONDO:0013990"	"pontocerebellar hypoplasia type 8"	"Orphanet:324569"	"Orphanet:324569"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8740"	"CHMP1A"	"Orphanet:324569"	"Pontocerebellar hypoplasia type 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23023333[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21886"	"2021-09-14"
"GENCC_000110-HGNC_236-Orphanet_1429-HP_0000006-GENCC_100009"	"HGNC:236"	"ADCY5"	"MONDO:0001595"	"choreatic disease"	"Orphanet:1429"	"Orphanet:1429"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:236"	"ADCY5"	"Orphanet:1429"	"Benign hereditary chorea"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26085604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21887"	"2021-09-14"
"GENCC_000110-HGNC_236-Orphanet_324588-HP_0000006-GENCC_100009"	"HGNC:236"	"ADCY5"	"MONDO:0011707"	"familial dyskinesia and facial myokymia"	"Orphanet:324588"	"Orphanet:324588"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:236"	"ADCY5"	"Orphanet:324588"	"Familial dyskinesia and facial myokymia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22782511[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21887"	"2021-09-14"
"GENCC_000110-HGNC_11802-Orphanet_603-HP_0000006-GENCC_100009"	"HGNC:11802"	"TIA1"	"MONDO:0011466"	"distal myopathy, Welander type"	"Orphanet:603"	"Orphanet:603"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11802"	"TIA1"	"Orphanet:603"	"Distal myopathy, Welander type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23348830[PMID]_23401021[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21888"	"2021-09-14"
"GENCC_000110-HGNC_18986-Orphanet_320391-HP_0000007-GENCC_100009"	"HGNC:18986"	"GBA2"	"MONDO:0013737"	"hereditary spastic paraplegia 46"	"Orphanet:320391"	"Orphanet:320391"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18986"	"GBA2"	"Orphanet:320391"	"Autosomal recessive spastic paraplegia type 46"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23332916[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21890"	"2021-09-14"
"GENCC_000110-HGNC_18986-Orphanet_352641-HP_0000007-GENCC_100009"	"HGNC:18986"	"GBA2"	"MONDO:0018129"	"autosomal recessive cerebellar ataxia with late-onset spasticity"	"Orphanet:352641"	"Orphanet:352641"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18986"	"GBA2"	"Orphanet:352641"	"Autosomal recessive cerebellar ataxia with late-onset spasticity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23332917[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21890"	"2021-09-14"
"GENCC_000110-HGNC_20889-Orphanet_2704-HP_0000007-GENCC_100009"	"HGNC:20889"	"LRIG2"	"MONDO:0000463"	"Ochoa syndrome"	"Orphanet:2704"	"Orphanet:2704"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20889"	"LRIG2"	"Orphanet:2704"	"Ochoa syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23313374[PMID]_23967498[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21891"	"2021-09-14"
"GENCC_000110-HGNC_409-Orphanet_2542-HP_0000006-GENCC_100009"	"HGNC:409"	"ALDH1A3"	"MONDO:0016764"	"isolated anophthalmia-microphthalmia syndrome"	"Orphanet:2542"	"Orphanet:2542"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:409"	"ALDH1A3"	"Orphanet:2542"	"Isolated microphthalmia-anophthalmia-coloboma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23312594[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21892"	"2021-09-14"
"GENCC_000110-HGNC_10978-Orphanet_100032-HP_0000006-GENCC_100009"	"HGNC:10978"	"SLC24A4"	"MONDO:0007538"	"amelogenesis imperfecta, type 3A"	"Orphanet:100032"	"Orphanet:100032"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10978"	"SLC24A4"	"Orphanet:100032"	"Hypocalcified amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23375655[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21893"	"2021-09-14"
"GENCC_000110-HGNC_10978-Orphanet_100033-HP_0000007-GENCC_100009"	"HGNC:10978"	"SLC24A4"	"MONDO:0015048"	"amelogenesis imperfecta type 2"	"Orphanet:100033"	"Orphanet:100033"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10978"	"SLC24A4"	"Orphanet:100033"	"Hypomaturation amelogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24621671[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21893"	"2021-09-14"
"GENCC_000110-HGNC_26703-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:26703"	"SYNE4"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26703"	"SYNE4"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23348741[PMID]_20301607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21894"	"2021-09-14"
"GENCC_000110-HGNC_12586-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:12586"	"UQCRC2"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12586"	"UQCRC2"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23281071[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21895"	"2021-09-14"
"GENCC_000110-HGNC_23246-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:23246"	"MYPN"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23246"	"MYPN"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"18006477[PMID]_22892539[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21896"	"2021-09-14"
"GENCC_000110-HGNC_23246-Orphanet_75249-HP_0000006-GENCC_100009"	"HGNC:23246"	"MYPN"	"MONDO:0019150"	"familial isolated restrictive cardiomyopathy"	"Orphanet:75249"	"Orphanet:75249"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23246"	"MYPN"	"Orphanet:75249"	"Familial isolated restrictive cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22286171[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21896"	"2021-09-14"
"GENCC_000110-HGNC_23246-Orphanet_171439-HP_0000006-GENCC_100009"	"HGNC:23246"	"MYPN"	"MONDO:0015738"	"childhood-onset nemaline myopathy"	"Orphanet:171439"	"Orphanet:171439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23246"	"MYPN"	"Orphanet:171439"	"Childhood-onset nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28017374[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21896"	"2021-09-14"
"GENCC_000110-HGNC_23246-Orphanet_171881-HP_0000006-GENCC_100009"	"HGNC:23246"	"MYPN"	"MONDO:0015753"	"cap myopathy"	"Orphanet:171881"	"Orphanet:171881"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23246"	"MYPN"	"Orphanet:171881"	"Cap myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28220527[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21896"	"2021-09-14"
"GENCC_000110-HGNC_10583-Orphanet_306577-HP_0000006-GENCC_100009"	"HGNC:10583"	"SCN11A"	"MONDO:0017629"	"sodium channelopathy-related small fiber neuropathy"	"Orphanet:306577"	"Orphanet:306577"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10583"	"SCN11A"	"Orphanet:306577"	"Sodium channelopathy-related small fiber neuropathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24776970[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21899"	"2021-09-14"
"GENCC_000110-HGNC_10583-Orphanet_391392-HP_0000006-GENCC_100009"	"HGNC:10583"	"SCN11A"	"MONDO:0014247"	"familial episodic pain syndrome with predominantly lower limb involvement"	"Orphanet:391392"	"Orphanet:391392"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10583"	"SCN11A"	"Orphanet:391392"	"Familial episodic pain syndrome with predominantly lower limb involvement"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24207120[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21899"	"2021-09-14"
"GENCC_000110-HGNC_10583-Orphanet_391397-HP_0000006-GENCC_100009"	"HGNC:10583"	"SCN11A"	"MONDO:0014244"	"hereditary sensory and autonomic neuropathy type 7"	"Orphanet:391397"	"Orphanet:391397"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10583"	"SCN11A"	"Orphanet:391397"	"Hereditary sensory and autonomic neuropathy type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24036948[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21899"	"2021-09-14"
"GENCC_000110-HGNC_5948-Orphanet_329235-HP_0001417-GENCC_100009"	"HGNC:5948"	"IGSF1"	"MONDO:0010475"	"X-linked central congenital hypothyroidism with late-onset testicular enlargement"	"Orphanet:329235"	"Orphanet:329235"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:5948"	"IGSF1"	"Orphanet:329235"	"X-linked central congenital hypothyroidism with late-onset testicular enlargement"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23143598[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21971"	"2021-09-14"
"GENCC_000110-HGNC_28596-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:28596"	"B3GALNT2"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28596"	"B3GALNT2"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23453667[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21973"	"2021-09-14"
"GENCC_000110-HGNC_28596-Orphanet_588-HP_0000007-GENCC_100009"	"HGNC:28596"	"B3GALNT2"	"MONDO:0018939"	"muscle-eye-brain disease"	"Orphanet:588"	"Orphanet:588"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28596"	"B3GALNT2"	"Orphanet:588"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23453667[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21973"	"2021-09-14"
"GENCC_000110-HGNC_28596-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:28596"	"B3GALNT2"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28596"	"B3GALNT2"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29273094[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21973"	"2021-09-14"
"GENCC_000110-HGNC_163-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:163"	"ACTN1"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:163"	"ACTN1"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23434115[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21974"	"2021-09-14"
"GENCC_000110-HGNC_15888-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:15888"	"RTEL1"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15888"	"RTEL1"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23453664[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21975"	"2021-09-14"
"GENCC_000110-HGNC_15888-Orphanet_3322-HP_0000006-GENCC_100009"	"HGNC:15888"	"RTEL1"	"MONDO:0018045"	"Hoyeraal-Hreidarsson syndrome"	"Orphanet:3322"	"Orphanet:3322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15888"	"RTEL1"	"Orphanet:3322"	"Hoyeraal-Hreidarsson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23329068[PMID]_23453664[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21975"	"2021-09-14"
"GENCC_000110-HGNC_15459-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:15459"	"P2RX2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15459"	"P2RX2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23345450[PMID]_20301607[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21976"	"2021-09-14"
"GENCC_000110-HGNC_11623-Orphanet_35098-HP_0000006-GENCC_100009"	"HGNC:11623"	"TCF12"	"MONDO:0018113"	"isolated plagiocephaly"	"Orphanet:35098"	"Orphanet:35098"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11623"	"TCF12"	"Orphanet:35098"	"Isolated plagiocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23354436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21977"	"2021-09-14"
"GENCC_000110-HGNC_11623-Orphanet_35099-HP_0000006-GENCC_100009"	"HGNC:11623"	"TCF12"	"MONDO:0018114"	"isolated brachycephaly"	"Orphanet:35099"	"Orphanet:35099"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11623"	"TCF12"	"Orphanet:35099"	"Isolated brachycephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23354436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21977"	"2021-09-14"
"GENCC_000110-HGNC_24245-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:24245"	"DRC1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24245"	"DRC1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23354437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21978"	"2021-09-14"
"GENCC_000110-HGNC_7508-Orphanet_88949-HP_0000006-GENCC_100009"	"HGNC:7508"	"MUC1"	"MONDO:0020726"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"Orphanet:88949"	"Orphanet:88949"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7508"	"MUC1"	"Orphanet:88949"	"MUC1-related autosomal dominant tubulointerstitial kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23396133[PMID]_24509297[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21979"	"2021-09-14"
"GENCC_000110-HGNC_28287-Orphanet_353327-HP_0000007-GENCC_100009"	"HGNC:28287"	"ALG14"	"MONDO:0018144"	"congenital myasthenic syndromes with glycosylation defect"	"Orphanet:353327"	"Orphanet:353327"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28287"	"ALG14"	"Orphanet:353327"	"Congenital myasthenic syndromes with glycosylation defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23404334[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21980"	"2021-09-14"
"GENCC_000110-HGNC_25535-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:25535"	"TMEM38B"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25535"	"TMEM38B"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23313006[PMID]_25046257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21983"	"2021-09-14"
"GENCC_000110-HGNC_2852-Orphanet_357008-HP_0000007-GENCC_100009"	"HGNC:2852"	"DGKE"	"MONDO:0018159"	"atypical hemolytic-uremic syndrome with DGKE deficiency"	"Orphanet:357008"	"Orphanet:357008"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2852"	"DGKE"	"Orphanet:357008"	"Hemolytic uremic syndrome with DGKE deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23542698[PMID]_20301541[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"21984"	"2021-09-14"
"GENCC_000110-HGNC_15864-Orphanet_329173-HP_0000007-GENCC_100009"	"HGNC:15864"	"RBCK1"	"MONDO:0017992"	"autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"	"Orphanet:329173"	"Orphanet:329173"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15864"	"RBCK1"	"Orphanet:329173"	"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23104095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22007"	"2021-09-14"
"GENCC_000110-HGNC_15864-Orphanet_397937-HP_0000007-GENCC_100009"	"HGNC:15864"	"RBCK1"	"MONDO:0018348"	"polyglucosan body myopathy type 1"	"Orphanet:397937"	"Orphanet:397937"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15864"	"RBCK1"	"Orphanet:397937"	"Polyglucosan body myopathy type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23798481[PMID]_23674175[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22007"	"2021-09-14"
"GENCC_000110-HGNC_3006-Orphanet_329178-HP_0000007-GENCC_100009"	"HGNC:3006"	"DPM2"	"MONDO:0014023"	"congenital muscular dystrophy with intellectual disability and severe epilepsy"	"Orphanet:329178"	"Orphanet:329178"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3006"	"DPM2"	"Orphanet:329178"	"Congenital muscular dystrophy with intellectual disability and severe epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23109149[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22008"	"2021-09-14"
"GENCC_000110-HGNC_4868-Orphanet_329195-HP_0000007-GENCC_100009"	"HGNC:4868"	"HERC2"	"MONDO:0014224"	"developmental delay with autism spectrum disorder and gait instability"	"Orphanet:329195"	"Orphanet:329195"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4868"	"HERC2"	"Orphanet:329195"	"Developmental delay with autism spectrum disorder and gait instability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23065719[PMID]_23243086[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22009"	"2021-09-14"
"GENCC_000110-HGNC_1482-Orphanet_329211-HP_0000006-GENCC_100009"	"HGNC:1482"	"CAPN5"	"MONDO:0008664"	"autosomal dominant neovascular inflammatory vitreoretinopathy"	"Orphanet:329211"	"Orphanet:329211"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1482"	"CAPN5"	"Orphanet:329211"	"Autosomal dominant neovascular inflammatory vitreoretinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23055945[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22010"	"2021-09-14"
"GENCC_000110-HGNC_30032-Orphanet_329224-HP_0000006-GENCC_100009"	"HGNC:30032"	"PACS1"	"MONDO:0014006"	"Schuurs-Hoeijmakers syndrome"	"Orphanet:329224"	"Orphanet:329224"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30032"	"PACS1"	"Orphanet:329224"	"Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23159249[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22011"	"2021-09-14"
"GENCC_000110-HGNC_15807-Orphanet_329228-HP_0000007-GENCC_100009"	"HGNC:15807"	"ZNF335"	"MONDO:0014043"	"microcephalic primordial dwarfism due to ZNF335 deficiency"	"Orphanet:329228"	"Orphanet:329228"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15807"	"ZNF335"	"Orphanet:329228"	"Microcephalic primordial dwarfism due to ZNF335 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23178126[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22012"	"2021-09-14"
"GENCC_000110-HGNC_2843-Orphanet_329242-HP_0000007-GENCC_100009"	"HGNC:2843"	"DGAT1"	"MONDO:0014375"	"congenital diarrhea 7 with exudative enteropathy"	"Orphanet:329242"	"Orphanet:329242"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2843"	"DGAT1"	"Orphanet:329242"	"Congenital chronic diarrhea with protein-losing enteropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23114594[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22013"	"2021-09-14"
"GENCC_000110-HGNC_13478-Orphanet_2707-HP_0000007-GENCC_100009"	"HGNC:13478"	"UBE3B"	"MONDO:0009485"	"oculocerebrofacial syndrome, Kaufman type"	"Orphanet:2707"	"Orphanet:2707"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13478"	"UBE3B"	"Orphanet:2707"	"Oculocerebrofacial syndrome, Kaufman type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23687348[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22014"	"2021-09-14"
"GENCC_000110-HGNC_28912-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:28912"	"WDR45"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28912"	"WDR45"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27030146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22015"	"2021-09-14"
"GENCC_000110-HGNC_4388-Orphanet_329466-HP_0000006-GENCC_100009"	"HGNC:4388"	"GNAL"	"MONDO:0014033"	"dystonia 25"	"Orphanet:329466"	"Orphanet:329466"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4388"	"GNAL"	"Orphanet:329466"	"Autosomal dominant focal dystonia, DYT25 type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23222958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22016"	"2021-09-14"
"GENCC_000110-HGNC_2973-Orphanet_98673-HP_0000006-GENCC_100009"	"HGNC:2973"	"DNM1L"	"MONDO:0008134"	"autosomal dominant optic atrophy, classic form"	"Orphanet:98673"	"Orphanet:98673"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2973"	"DNM1L"	"Orphanet:98673"	"Autosomal dominant optic atrophy, classic form"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28969390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22019"	"2021-09-14"
"GENCC_000110-HGNC_2973-Orphanet_330050-HP_0000006-GENCC_100009"	"HGNC:2973"	"DNM1L"	"MONDO:0013726"	"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"Orphanet:330050"	"Orphanet:330050"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2973"	"DNM1L"	"Orphanet:330050"	"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17460227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22019"	"2021-09-14"
"GENCC_000110-HGNC_4236-Orphanet_330054-HP_0000007-GENCC_100009"	"HGNC:4236"	"GFER"	"MONDO:0013116"	"congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"	"Orphanet:330054"	"Orphanet:330054"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4236"	"GFER"	"Orphanet:330054"	"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19409522[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22020"	"2021-09-14"
"GENCC_000110-HGNC_5033-Orphanet_52430-HP_0000006-GENCC_100009"	"HGNC:5033"	"HNRNPA2B1"	"MONDO:0000507"	"inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"Orphanet:52430"	"Orphanet:52430"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5033"	"HNRNPA2B1"	"Orphanet:52430"	"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23455423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22022"	"2021-09-14"
"GENCC_000110-HGNC_5031-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:5031"	"HNRNPA1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5031"	"HNRNPA1"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23455423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22023"	"2021-09-14"
"GENCC_000110-HGNC_5031-Orphanet_52430-HP_0000006-GENCC_100009"	"HGNC:5031"	"HNRNPA1"	"MONDO:0000507"	"inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"Orphanet:52430"	"Orphanet:52430"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5031"	"HNRNPA1"	"Orphanet:52430"	"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23455423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22023"	"2021-09-14"
"GENCC_000110-HGNC_12774-Orphanet_216812-HP_0000006-GENCC_100009"	"HGNC:12774"	"WNT1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"Orphanet:216812"	"Orphanet:216812"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12774"	"WNT1"	"Orphanet:216812"	"Osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23499310[PMID]_25046257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22024"	"2021-09-14"
"GENCC_000110-HGNC_12774-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:12774"	"WNT1"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12774"	"WNT1"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23434763[PMID]_25046257[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22024"	"2021-09-14"
"GENCC_000110-HGNC_17893-Orphanet_247262-HP_0000007-GENCC_100009"	"HGNC:17893"	"PGAP2"	"MONDO:0016596"	"hyperphosphatasia-intellectual disability syndrome"	"Orphanet:247262"	"Orphanet:247262"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17893"	"PGAP2"	"Orphanet:247262"	"Hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23561847[PMID]_23561846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22025"	"2021-09-14"
"GENCC_000110-HGNC_28526-Orphanet_974-HP_0000006-GENCC_100009"	"HGNC:28526"	"EOGT"	"MONDO:0007034"	"Adams-Oliver syndrome"	"Orphanet:974"	"Orphanet:974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28526"	"EOGT"	"Orphanet:974"	"Adams-Oliver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23522784[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22026"	"2021-09-14"
"GENCC_000110-HGNC_2084-Orphanet_2855-HP_0000007-GENCC_100009"	"HGNC:2084"	"CLPP"	"MONDO:0017312"	"Perrault syndrome"	"Orphanet:2855"	"Orphanet:2855"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2084"	"CLPP"	"Orphanet:2855"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23541340[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22027"	"2021-09-14"
"GENCC_000110-HGNC_17095-Orphanet_2855-HP_0000007-GENCC_100009"	"HGNC:17095"	"LARS2"	"MONDO:0017312"	"Perrault syndrome"	"Orphanet:2855"	"Orphanet:2855"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17095"	"LARS2"	"Orphanet:2855"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23541342[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22028"	"2021-09-14"
"GENCC_000110-HGNC_18249-Orphanet_2036-HP_0000006-GENCC_100009"	"HGNC:18249"	"KCTD1"	"MONDO:0008404"	"scalp-ear-nipple syndrome"	"Orphanet:2036"	"Orphanet:2036"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18249"	"KCTD1"	"Orphanet:2036"	"Scalp-ear-nipple syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23541344[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22029"	"2021-09-14"
"GENCC_000110-HGNC_11605-Orphanet_1797-HP_0000006-GENCC_100009"	"HGNC:11605"	"TBX6"	"MONDO:0015826"	"autosomal dominant spondylocostal dysostosis"	"Orphanet:1797"	"Orphanet:1797"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11605"	"TBX6"	"Orphanet:1797"	"Autosomal dominant spondylocostal dysostosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23335591[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22030"	"2021-09-14"
"GENCC_000110-HGNC_15685-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:15685"	"B4GAT1"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15685"	"B4GAT1"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23359570[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22031"	"2021-09-14"
"GENCC_000110-HGNC_26270-Orphanet_1154-HP_0000006-GENCC_100009"	"HGNC:26270"	"PIEZO2"	"MONDO:0007158"	"arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome"	"Orphanet:1154"	"Orphanet:1154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26270"	"PIEZO2"	"Orphanet:1154"	"Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23487782[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22032"	"2021-09-14"
"GENCC_000110-HGNC_26270-Orphanet_376-HP_0000006-GENCC_100009"	"HGNC:26270"	"PIEZO2"	"MONDO:0007252"	"Gordon syndrome"	"Orphanet:376"	"Orphanet:376"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26270"	"PIEZO2"	"Orphanet:376"	"Gordon syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24726473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22032"	"2021-09-14"
"GENCC_000110-HGNC_26270-Orphanet_2461-HP_0000007-GENCC_100009"	"HGNC:26270"	"PIEZO2"	"MONDO:0009564"	"Marden-Walker syndrome"	"Orphanet:2461"	"Orphanet:2461"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26270"	"PIEZO2"	"Orphanet:2461"	"Marden-Walker syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24726473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22032"	"2021-09-14"
"GENCC_000110-HGNC_9399-Orphanet_3261-HP_0000006-GENCC_100009"	"HGNC:9399"	"PRKCD"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"Orphanet:3261"	"Orphanet:3261"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9399"	"PRKCD"	"Orphanet:3261"	"Autoimmune lymphoproliferative syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23430113[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22033"	"2021-09-14"
"GENCC_000110-HGNC_9399-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:9399"	"PRKCD"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9399"	"PRKCD"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23319571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22033"	"2021-09-14"
"GENCC_000110-HGNC_9399-Orphanet_300345-HP_0000006-GENCC_100009"	"HGNC:9399"	"PRKCD"	"MONDO:0013743"	"autosomal systemic lupus erythematosus type 16"	"Orphanet:300345"	"Orphanet:300345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9399"	"PRKCD"	"Orphanet:300345"	"Autosomal systemic lupus erythematosus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23712425[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22033"	"2021-09-14"
"GENCC_000110-HGNC_3444-Orphanet_207-HP_0000006-GENCC_100009"	"HGNC:3444"	"ERF"	"MONDO:0007405"	"Crouzon syndrome"	"Orphanet:207"	"Orphanet:207"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3444"	"ERF"	"Orphanet:207"	"Crouzon disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23354439[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22034"	"2021-09-14"
"GENCC_000110-HGNC_3444-Orphanet_35093-HP_0000006-GENCC_100009"	"HGNC:3444"	"ERF"	"MONDO:0018112"	"isolated scaphocephaly"	"Orphanet:35093"	"Orphanet:35093"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3444"	"ERF"	"Orphanet:35093"	"Isolated scaphocephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23354439[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22034"	"2021-09-14"
"GENCC_000110-HGNC_11109-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:11109"	"SMARCE1"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11109"	"SMARCE1"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23556151[PMID]_23906836[PMID]_23929686[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22035"	"2021-09-14"
"GENCC_000110-HGNC_11109-Orphanet_263662-HP_0000006-GENCC_100009"	"HGNC:11109"	"SMARCE1"	"MONDO:0016995"	"familial multiple meningioma"	"Orphanet:263662"	"Orphanet:263662"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11109"	"SMARCE1"	"Orphanet:263662"	"Familial multiple meningioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23377182[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22035"	"2021-09-14"
"GENCC_000110-HGNC_11927-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:11927"	"TNFSF12"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11927"	"TNFSF12"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23493554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22038"	"2021-09-14"
"GENCC_000110-HGNC_2172-Orphanet_86814-HP_0000006-GENCC_100009"	"HGNC:2172"	"CNTN2"	"MONDO:0019448"	"benign adult familial myoclonic epilepsy"	"Orphanet:86814"	"Orphanet:86814"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2172"	"CNTN2"	"Orphanet:86814"	"Benign adult familial myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23518707[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22039"	"2021-09-14"
"GENCC_000110-HGNC_2939-Orphanet_352470-HP_0000006-GENCC_100009"	"HGNC:2939"	"DNA2"	"MONDO:0014062"	"mitochondrial DNA deletion syndrome with progressive myopathy"	"Orphanet:352470"	"Orphanet:352470"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2939"	"DNA2"	"Orphanet:352470"	"DNA2-related mitochondrial DNA deletion syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23352259[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22040"	"2021-09-14"
"GENCC_000110-HGNC_6484-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:6484"	"LAMA4"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6484"	"LAMA4"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17646580[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22041"	"2021-09-14"
"GENCC_000110-HGNC_16393-Orphanet_357237-HP_0000007-GENCC_100009"	"HGNC:16393"	"CARD11"	"MONDO:0014081"	"severe combined immunodeficiency due to CARD11 deficiency"	"Orphanet:357237"	"Orphanet:357237"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16393"	"CARD11"	"Orphanet:357237"	"Severe combined immunodeficiency due to CARD11 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23561803[PMID]_23374270[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22042"	"2021-09-14"
"GENCC_000110-HGNC_16393-Orphanet_464336-HP_0000006-GENCC_100009"	"HGNC:16393"	"CARD11"	"MONDO:0014645"	"BENTA disease"	"Orphanet:464336"	"Orphanet:464336"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16393"	"CARD11"	"Orphanet:464336"	"BENTA disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23129749[PMID]_25352053[PMID]_25930198[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22042"	"2021-09-14"
"GENCC_000110-HGNC_2409-Orphanet_98988-HP_0000006-GENCC_100009"	"HGNC:2409"	"CRYGB"	"MONDO:0020373"	"early-onset anterior polar cataract"	"Orphanet:98988"	"Orphanet:98988"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2409"	"CRYGB"	"Orphanet:98988"	"Early-onset anterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23288985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22043"	"2021-09-14"
"GENCC_000110-HGNC_2409-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:2409"	"CRYGB"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2409"	"CRYGB"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23288985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22043"	"2021-09-14"
"GENCC_000110-HGNC_2409-Orphanet_441452-HP_0000006-GENCC_100009"	"HGNC:2409"	"CRYGB"	"MONDO:0018611"	"early-onset lamellar cataract"	"Orphanet:441452"	"Orphanet:441452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2409"	"CRYGB"	"Orphanet:441452"	"Early-onset lamellar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23288985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22043"	"2021-09-14"
"GENCC_000110-HGNC_8979-Orphanet_3163-HP_0000006-GENCC_100009"	"HGNC:8979"	"PIK3R1"	"MONDO:0010026"	"SHORT syndrome"	"Orphanet:3163"	"Orphanet:3163"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8979"	"PIK3R1"	"Orphanet:3163"	"SHORT syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23810378[PMID]_23810379[PMID]_23810382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22044"	"2021-09-14"
"GENCC_000110-HGNC_8979-Orphanet_33110-HP_0000006-GENCC_100009"	"HGNC:8979"	"PIK3R1"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"Orphanet:33110"	"Orphanet:33110"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8979"	"PIK3R1"	"Orphanet:33110"	"Autosomal agammaglobulinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22351933[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22044"	"2021-09-14"
"GENCC_000110-HGNC_8979-Orphanet_397596-HP_0000006-GENCC_100009"	"HGNC:8979"	"PIK3R1"	"MONDO:0018338"	"activated PI3K-delta syndrome"	"Orphanet:397596"	"Orphanet:397596"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8979"	"PIK3R1"	"Orphanet:397596"	"Activated PI3K-delta syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25133428[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22044"	"2021-09-14"
"GENCC_000110-HGNC_26267-Orphanet_899-HP_0000007-GENCC_100009"	"HGNC:26267"	"POMK"	"MONDO:0000171"	"muscular dystrophy-dystroglycanopathy, type A"	"Orphanet:899"	"Orphanet:899"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26267"	"POMK"	"Orphanet:899"	"Walker-Warburg syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23519211[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22090"	"2021-09-14"
"GENCC_000110-HGNC_26267-Orphanet_370959-HP_0000007-GENCC_100009"	"HGNC:26267"	"POMK"	"MONDO:0018277"	"congenital muscular dystrophy with cerebellar involvement"	"Orphanet:370959"	"Orphanet:370959"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26267"	"POMK"	"Orphanet:370959"	"Congenital muscular dystrophy with cerebellar involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24925318[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22090"	"2021-09-14"
"GENCC_000110-HGNC_26267-Orphanet_445110-HP_0000007-GENCC_100009"	"HGNC:26267"	"POMK"	"MONDO:0014489"	"limb-girdle muscular dystrophy due to POMK deficiency"	"Orphanet:445110"	"Orphanet:445110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26267"	"POMK"	"Orphanet:445110"	"Limb-girdle muscular dystrophy due to POMK deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24925318[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22090"	"2021-09-14"
"GENCC_000110-HGNC_21014-Orphanet_2067-HP_0000007-GENCC_100009"	"HGNC:21014"	"ANTXR1"	"MONDO:0009263"	"GAPO syndrome"	"Orphanet:2067"	"Orphanet:2067"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21014"	"ANTXR1"	"Orphanet:2067"	"GAPO syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23602711[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22118"	"2021-09-14"
"GENCC_000110-HGNC_26200-Orphanet_313838-HP_0000007-GENCC_100009"	"HGNC:26200"	"STN1"	"MONDO:0012815"	"Coats plus syndrome"	"Orphanet:313838"	"Orphanet:313838"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26200"	"STN1"	"Orphanet:313838"	"Coats plus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25957586[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22123"	"2021-09-14"
"GENCC_000110-HGNC_16950-Orphanet_294016-HP_0000007-GENCC_100009"	"HGNC:16950"	"STAMBP"	"MONDO:0013659"	"microcephaly-capillary malformation syndrome"	"Orphanet:294016"	"Orphanet:294016"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16950"	"STAMBP"	"Orphanet:294016"	"Microcephaly-capillary malformation syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23542699[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22143"	"2021-09-14"
"GENCC_000110-HGNC_18423-Orphanet_98784-HP_0000006-GENCC_100009"	"HGNC:18423"	"DEPDC5"	"MONDO:0020300"	"autosomal dominant nocturnal frontal lobe epilepsy"	"Orphanet:98784"	"Orphanet:98784"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18423"	"DEPDC5"	"Orphanet:98784"	"Autosomal dominant nocturnal frontal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23542697[PMID]_23542701[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22144"	"2021-09-14"
"GENCC_000110-HGNC_18423-Orphanet_98820-HP_0000006-GENCC_100009"	"HGNC:18423"	"DEPDC5"	"MONDO:0020310"	"familial focal epilepsy with variable foci"	"Orphanet:98820"	"Orphanet:98820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18423"	"DEPDC5"	"Orphanet:98820"	"Familial focal epilepsy with variable foci"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23542697[PMID]_23542701[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22144"	"2021-09-14"
"GENCC_000110-HGNC_18423-Orphanet_101046-HP_0000006-GENCC_100009"	"HGNC:18423"	"DEPDC5"	"MONDO:0010898"	"autosomal dominant epilepsy with auditory features"	"Orphanet:101046"	"Orphanet:101046"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18423"	"DEPDC5"	"Orphanet:101046"	"Autosomal dominant epilepsy with auditory features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23542697[PMID]_23542701[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22144"	"2021-09-14"
"GENCC_000110-HGNC_19750-Orphanet_2300-HP_0000007-GENCC_100009"	"HGNC:19750"	"TTC7A"	"MONDO:0009465"	"multiple intestinal atresia"	"Orphanet:2300"	"Orphanet:2300"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19750"	"TTC7A"	"Orphanet:2300"	"Multiple intestinal atresia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23423984[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22146"	"2021-09-14"
"GENCC_000110-HGNC_19750-Orphanet_436252-HP_0000007-GENCC_100009"	"HGNC:19750"	"TTC7A"	"MONDO:0009465"	"multiple intestinal atresia"	"Orphanet:436252"	"Orphanet:436252"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19750"	"TTC7A"	"Orphanet:436252"	"Combined immunodeficiency-enteropathy spectrum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24417819[PMID]_25174867[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22146"	"2021-09-14"
"GENCC_000110-HGNC_22219-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:22219"	"KIAA1549"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:22219"	"KIAA1549"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30120214[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22149"	"2021-09-14"
"GENCC_000110-HGNC_10939-Orphanet_166412-HP_0000006-GENCC_100009"	"HGNC:10939"	"SLC1A1"	"MONDO:0013229"	"hot water reflex epilepsy"	"Orphanet:166412"	"Orphanet:166412"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10939"	"SLC1A1"	"Orphanet:166412"	"Hot water reflex epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28324217[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22150"	"2021-09-14"
"GENCC_000110-HGNC_823-Orphanet_254913-HP_0000007-GENCC_100009"	"HGNC:823"	"ATP5F1A"	"MONDO:0014471"	"mitochondrial proton-transporting ATP synthase complex deficiency"	"Orphanet:254913"	"Orphanet:254913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:823"	"ATP5F1A"	"Orphanet:254913"	"Isolated ATP synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23599390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22151"	"2021-09-14"
"GENCC_000110-HGNC_2956-Orphanet_300345-HP_0000006-GENCC_100009"	"HGNC:2956"	"DNASE1"	"MONDO:0013743"	"autosomal systemic lupus erythematosus type 16"	"Orphanet:300345"	"Orphanet:300345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2956"	"DNASE1"	"Orphanet:300345"	"Autosomal systemic lupus erythematosus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"11479590[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22152"	"2021-09-14"
"GENCC_000110-HGNC_23503-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:23503"	"SLITRK6"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23503"	"SLITRK6"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23543054[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22154"	"2021-09-14"
"GENCC_000110-HGNC_23503-Orphanet_363396-HP_0000007-GENCC_100009"	"HGNC:23503"	"SLITRK6"	"MONDO:0009082"	"high myopia-sensorineural deafness syndrome"	"Orphanet:363396"	"Orphanet:363396"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23503"	"SLITRK6"	"Orphanet:363396"	"High myopia-sensorineural deafness syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23543054[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22154"	"2021-09-14"
"GENCC_000110-HGNC_24931-Orphanet_3454-HP_0001417-GENCC_100009"	"HGNC:24931"	"ZC4H2"	"MONDO:0010758"	"Wieacker-Wolff syndrome"	"Orphanet:3454"	"Orphanet:3454"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:24931"	"ZC4H2"	"Orphanet:3454"	"Intellectual disability-developmental delay-contractures syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23623388[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22155"	"2021-09-14"
"GENCC_000110-HGNC_17616-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:17616"	"IL17RD"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17616"	"IL17RD"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22156"	"2021-09-14"
"GENCC_000110-HGNC_3673-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:3673"	"FGF17"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3673"	"FGF17"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22157"	"2021-09-14"
"GENCC_000110-HGNC_3673-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:3673"	"FGF17"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3673"	"FGF17"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22157"	"2021-09-14"
"GENCC_000110-HGNC_3072-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:3072"	"DUSP6"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3072"	"DUSP6"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22158"	"2021-09-14"
"GENCC_000110-HGNC_3072-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:3072"	"DUSP6"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3072"	"DUSP6"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22158"	"2021-09-14"
"GENCC_000110-HGNC_15533-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:15533"	"SPRY4"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15533"	"SPRY4"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22159"	"2021-09-14"
"GENCC_000110-HGNC_15533-Orphanet_432-HP_0000006-GENCC_100009"	"HGNC:15533"	"SPRY4"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"Orphanet:432"	"Orphanet:432"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15533"	"SPRY4"	"Orphanet:432"	"Normosmic congenital hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22159"	"2021-09-14"
"GENCC_000110-HGNC_3762-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:3762"	"FLRT3"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3762"	"FLRT3"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22160"	"2021-09-14"
"GENCC_000110-HGNC_23405-Orphanet_352745-HP_0000007-GENCC_100009"	"HGNC:23405"	"LRMDA"	"MONDO:0014070"	"oculocutaneous albinism type 7"	"Orphanet:352745"	"Orphanet:352745"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23405"	"LRMDA"	"Orphanet:352745"	"Oculocutaneous albinism type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23395477[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22163"	"2021-09-14"
"GENCC_000110-HGNC_28423-Orphanet_168572-HP_0000007-GENCC_100009"	"HGNC:28423"	"STAC3"	"MONDO:0009722"	"Bailey-Bloch congenital myopathy"	"Orphanet:168572"	"Orphanet:168572"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28423"	"STAC3"	"Orphanet:168572"	"Native American myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23736855[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22165"	"2021-09-14"
"GENCC_000110-HGNC_16205-Orphanet_352447-HP_0000007-GENCC_100009"	"HGNC:16205"	"MGME1"	"MONDO:0014039"	"mitochondrial DNA depletion syndrome 11"	"Orphanet:352447"	"Orphanet:352447"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16205"	"MGME1"	"Orphanet:352447"	"Progressive external ophthalmoplegia-myopathy-emaciation syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23313956[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22166"	"2021-09-14"
"GENCC_000110-HGNC_678-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:678"	"ARHGDIA"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:678"	"ARHGDIA"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23434736[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22170"	"2021-09-14"
"GENCC_000110-HGNC_15469-Orphanet_2828-HP_0000007-GENCC_100009"	"HGNC:15469"	"DNAJC6"	"MONDO:0017279"	"young-onset Parkinson disease"	"Orphanet:2828"	"Orphanet:2828"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15469"	"DNAJC6"	"Orphanet:2828"	"Young-onset Parkinson disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26528954[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22171"	"2021-09-14"
"GENCC_000110-HGNC_15469-Orphanet_391411-HP_0000007-GENCC_100009"	"HGNC:15469"	"DNAJC6"	"MONDO:0018321"	"atypical juvenile parkinsonism"	"Orphanet:391411"	"Orphanet:391411"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15469"	"DNAJC6"	"Orphanet:391411"	"Atypical juvenile parkinsonism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22563501[PMID]_23211418[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22171"	"2021-09-14"
"GENCC_000110-HGNC_16650-Orphanet_352563-HP_0000007-GENCC_100009"	"HGNC:16650"	"MRPL44"	"MONDO:0014162"	"infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"	"Orphanet:352563"	"Orphanet:352563"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16650"	"MRPL44"	"Orphanet:352563"	"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23315540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22172"	"2021-09-14"
"GENCC_000110-HGNC_29357-Orphanet_352577-HP_0000006-GENCC_100009"	"HGNC:29357"	"ASXL3"	"MONDO:0014205"	"severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"	"Orphanet:352577"	"Orphanet:352577"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29357"	"ASXL3"	"Orphanet:352577"	"Bainbridge-Ropers syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23383720[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22173"	"2021-09-14"
"GENCC_000110-HGNC_23044-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:23044"	"NANOS1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23044"	"NANOS1"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23315541[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22174"	"2021-09-14"
"GENCC_000110-HGNC_10935-Orphanet_352649-HP_0000007-GENCC_100009"	"HGNC:10935"	"SLC18A2"	"MONDO:0018130"	"brain dopamine-serotonin vesicular transport disease"	"Orphanet:352649"	"Orphanet:352649"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10935"	"SLC18A2"	"Orphanet:352649"	"Brain dopamine-serotonin vesicular transport disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23363473[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22175"	"2021-09-14"
"GENCC_000110-HGNC_20731-Orphanet_352670-HP_0000006-GENCC_100009"	"HGNC:20731"	"GNB4"	"MONDO:0014074"	"Charcot-Marie-Tooth disease dominant intermediate F"	"Orphanet:352670"	"Orphanet:352670"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20731"	"GNB4"	"Orphanet:352670"	"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23434117[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22176"	"2021-09-14"
"GENCC_000110-HGNC_8811-Orphanet_352675-HP_0001417-GENCC_100009"	"HGNC:8811"	"PDK3"	"MONDO:0010479"	"Charcot-Marie-Tooth disease X-linked dominant 6"	"Orphanet:352675"	"Orphanet:352675"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:8811"	"PDK3"	"Orphanet:352675"	"X-linked Charcot-Marie-Tooth disease type 6"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23297365[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22177"	"2021-09-14"
"GENCC_000110-HGNC_6486-Orphanet_352682-HP_0000007-GENCC_100009"	"HGNC:6486"	"LAMB1"	"MONDO:0014077"	"cobblestone lissencephaly without muscular or ocular involvement"	"Orphanet:352682"	"Orphanet:352682"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6486"	"LAMB1"	"Orphanet:352682"	"Cobblestone lissencephaly without muscular or ocular involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23472759[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22178"	"2021-09-14"
"GENCC_000110-HGNC_2531-Orphanet_352709-HP_0000007-GENCC_100009"	"HGNC:2531"	"CTSF"	"MONDO:0014147"	"neuronal ceroid lipofuscinosis 13"	"Orphanet:352709"	"Orphanet:352709"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2531"	"CTSF"	"Orphanet:352709"	"CLN13 disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23297359[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22179"	"2021-09-14"
"GENCC_000110-HGNC_9177-Orphanet_85173-HP_0000006-GENCC_100009"	"HGNC:9177"	"POLE"	"MONDO:0013873"	"IMAGe syndrome"	"Orphanet:85173"	"Orphanet:85173"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9177"	"POLE"	"Orphanet:85173"	"IMAGe syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30503519[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22180"	"2021-09-14"
"GENCC_000110-HGNC_9177-Orphanet_352712-HP_0000007-GENCC_100009"	"HGNC:9177"	"POLE"	"MONDO:0014058"	"facial dysmorphism-immunodeficiency-livedo-short stature syndrome"	"Orphanet:352712"	"Orphanet:352712"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9177"	"POLE"	"Orphanet:352712"	"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23230001[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22180"	"2021-09-14"
"GENCC_000110-HGNC_9177-Orphanet_447877-HP_0000006-GENCC_100009"	"HGNC:9177"	"POLE"	"MONDO:0018653"	"Polymerase proofreading-related adenomatous polyposis"	"Orphanet:447877"	"Orphanet:447877"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9177"	"POLE"	"Orphanet:447877"	"Polymerase proofreading-related adenomatous polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23263490[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22180"	"2021-09-14"
"GENCC_000110-HGNC_9922-Orphanet_98938-HP_0000006-GENCC_100009"	"HGNC:9922"	"RBP4"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9922"	"RBP4"	"Orphanet:98938"	"Colobomatous microphthalmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25910211[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22181"	"2021-09-14"
"GENCC_000110-HGNC_9922-Orphanet_352718-HP_0000007-GENCC_100009"	"HGNC:9922"	"RBP4"	"MONDO:0014060"	"progressive retinal dystrophy due to retinol transport defect"	"Orphanet:352718"	"Orphanet:352718"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9922"	"RBP4"	"Orphanet:352718"	"Progressive retinal dystrophy due to retinol transport defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23189188[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22181"	"2021-09-14"
"GENCC_000110-HGNC_10982-Orphanet_353217-HP_0000007-GENCC_100009"	"HGNC:10982"	"SLC25A12"	"MONDO:0013056"	"developmental and epileptic encephalopathy, 39"	"Orphanet:353217"	"Orphanet:353217"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10982"	"SLC25A12"	"Orphanet:353217"	"Epileptic encephalopathy with global cerebral demyelination"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19641205[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22182"	"2021-09-14"
"GENCC_000110-HGNC_21061-Orphanet_352328-HP_0000007-GENCC_100009"	"HGNC:21061"	"SERAC1"	"MONDO:0013875"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"	"Orphanet:352328"	"Orphanet:352328"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21061"	"SERAC1"	"Orphanet:352328"	"MEGDEL syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22683713[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22183"	"2021-09-14"
"GENCC_000110-HGNC_11922-Orphanet_238505-HP_0000007-GENCC_100009"	"HGNC:11922"	"CD27"	"MONDO:0016536"	"autosomal recessive lymphoproliferative disease"	"Orphanet:238505"	"Orphanet:238505"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11922"	"CD27"	"Orphanet:238505"	"Combined immunodeficiency due to CD27 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22197273[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22186"	"2021-09-14"
"GENCC_000110-HGNC_17978-Orphanet_93359-HP_0000007-GENCC_100009"	"HGNC:17978"	"B3GALT6"	"MONDO:0019675"	"spondyloepimetaphyseal dysplasia with joint laxity"	"Orphanet:93359"	"Orphanet:93359"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17978"	"B3GALT6"	"Orphanet:93359"	"Spondyloepimetaphyseal dysplasia with joint laxity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664117[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22187"	"2021-09-14"
"GENCC_000110-HGNC_14988-Orphanet_79145-HP_0000006-GENCC_100009"	"HGNC:14988"	"POFUT1"	"MONDO:0008371"	"Dowling-Degos disease"	"Orphanet:79145"	"Orphanet:79145"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14988"	"POFUT1"	"Orphanet:79145"	"Dowling-Degos disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23684010[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22196"	"2021-09-14"
"GENCC_000110-HGNC_24725-Orphanet_2763-HP_0000006-GENCC_100009"	"HGNC:24725"	"FAM111A"	"MONDO:0011215"	"osteocraniostenosis"	"Orphanet:2763"	"Orphanet:2763"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24725"	"FAM111A"	"Orphanet:2763"	"Osteocraniostenosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23684011[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22200"	"2021-09-14"
"GENCC_000110-HGNC_24725-Orphanet_93325-HP_0000006-GENCC_100009"	"HGNC:24725"	"FAM111A"	"MONDO:0007478"	"autosomal dominant Kenny-Caffey syndrome"	"Orphanet:93325"	"Orphanet:93325"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24725"	"FAM111A"	"Orphanet:93325"	"Autosomal dominant Kenny-Caffey syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23684011[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22200"	"2021-09-14"
"GENCC_000110-HGNC_21698-Orphanet_1173-HP_0000007-GENCC_100009"	"HGNC:21698"	"RNF216"	"MONDO:0008935"	"cerebellar ataxia-hypogonadism syndrome"	"Orphanet:1173"	"Orphanet:1173"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21698"	"RNF216"	"Orphanet:1173"	"Cerebellar ataxia-hypogonadism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23656588[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22215"	"2021-09-14"
"GENCC_000110-HGNC_6502-Orphanet_101351-HP_0000006-GENCC_100009"	"HGNC:6502"	"RPSA"	"MONDO:0010066"	"familial isolated congenital asplenia"	"Orphanet:101351"	"Orphanet:101351"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6502"	"RPSA"	"Orphanet:101351"	"Familial isolated congenital asplenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23579497[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22218"	"2021-09-14"
"GENCC_000110-HGNC_6006-Orphanet_357329-HP_0000007-GENCC_100009"	"HGNC:6006"	"IL21R"	"MONDO:0014082"	"cryptosporidiosis-chronic cholangitis-liver disease syndrome"	"Orphanet:357329"	"Orphanet:357329"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6006"	"IL21R"	"Orphanet:357329"	"Combined immunodeficiency due to IL21R deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23440042[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22223"	"2021-09-14"
"GENCC_000110-HGNC_12013-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:12013"	"TPM4"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12013"	"TPM4"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28134622[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22225"	"2021-09-14"
"GENCC_000110-HGNC_20041-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:20041"	"ZNF408"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20041"	"ZNF408"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25882705[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22228"	"2021-09-14"
"GENCC_000110-HGNC_20041-Orphanet_891-HP_0000006-GENCC_100009"	"HGNC:20041"	"ZNF408"	"MONDO:0019516"	"exudative vitreoretinopathy"	"Orphanet:891"	"Orphanet:891"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20041"	"ZNF408"	"Orphanet:891"	"Familial exudative vitreoretinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23716659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22228"	"2021-09-14"
"GENCC_000110-HGNC_6392-Orphanet_98870-HP_0000006-GENCC_100009"	"HGNC:6392"	"KIF23"	"MONDO:0007109"	"congenital dyserythropoietic anemia type 3"	"Orphanet:98870"	"Orphanet:98870"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6392"	"KIF23"	"Orphanet:98870"	"Congenital dyserythropoietic anemia type III"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23570799[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22229"	"2021-09-14"
"GENCC_000110-HGNC_23505-Orphanet_1114-HP_0000006-GENCC_100009"	"HGNC:23505"	"BMS1"	"MONDO:0007145"	"aplasia cutis congenita"	"Orphanet:1114"	"Orphanet:1114"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23505"	"BMS1"	"Orphanet:1114"	"Aplasia cutis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23785305[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22230"	"2021-09-14"
"GENCC_000110-HGNC_30922-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:30922"	"LINS1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30922"	"LINS1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23773660[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22231"	"2021-09-14"
"GENCC_000110-HGNC_24592-Orphanet_300298-HP_0000005-GENCC_100009"	"HGNC:24592"	"STEAP3"	"MONDO:0014094"	"severe congenital hypochromic anemia with ringed sideroblasts"	"Orphanet:300298"	"Orphanet:300298"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:24592"	"STEAP3"	"Orphanet:300298"	"Severe congenital hypochromic anemia with ringed sideroblasts"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22031863[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22232"	"2021-09-14"
"GENCC_000110-HGNC_11022-Orphanet_356961-HP_0000005-GENCC_100009"	"HGNC:11022"	"SLC35A2"	"MONDO:0010478"	"SLC35A2-congenital disorder of glycosylation"	"Orphanet:356961"	"Orphanet:356961"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11022"	"SLC35A2"	"Orphanet:356961"	"SLC35A2-CDG"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23561849[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22235"	"2021-09-14"
"GENCC_000110-HGNC_10979-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:10979"	"SLC25A1"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10979"	"SLC25A1"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22236"	"2021-09-14"
"GENCC_000110-HGNC_10979-Orphanet_356978-HP_0000007-GENCC_100009"	"HGNC:10979"	"SLC25A1"	"MONDO:0014072"	"D,L-2-hydroxyglutaric aciduria"	"Orphanet:356978"	"Orphanet:356978"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10979"	"SLC25A1"	"Orphanet:356978"	"D,L-2-hydroxyglutaric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23561848[PMID]_23393310[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22236"	"2021-09-14"
"GENCC_000110-HGNC_494-Orphanet_356996-HP_0000007-GENCC_100009"	"HGNC:494"	"ANK3"	"MONDO:0014210"	"intellectual disability-hypotonia-spasticity-sleep disorder syndrome"	"Orphanet:356996"	"Orphanet:356996"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:494"	"ANK3"	"Orphanet:356996"	"ANK3-related intellectual disability-sleep disturbance syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23390136[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22237"	"2021-09-14"
"GENCC_000110-HGNC_9768-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:9768"	"RAB28"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9768"	"RAB28"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23746546[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22239"	"2021-09-14"
"GENCC_000110-HGNC_30372-Orphanet_171430-HP_0000007-GENCC_100009"	"HGNC:30372"	"KLHL40"	"MONDO:0015735"	"severe congenital nemaline myopathy"	"Orphanet:171430"	"Orphanet:171430"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30372"	"KLHL40"	"Orphanet:171430"	"Severe congenital nemaline myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23746549[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22240"	"2021-09-14"
"GENCC_000110-HGNC_4117-Orphanet_101006-HP_0000007-GENCC_100009"	"HGNC:4117"	"B4GALNT1"	"MONDO:0012213"	"hereditary spastic paraplegia 26"	"Orphanet:101006"	"Orphanet:101006"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4117"	"B4GALNT1"	"Orphanet:101006"	"Autosomal recessive spastic paraplegia type 26"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23746551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22241"	"2021-09-14"
"GENCC_000110-HGNC_14000-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:14000"	"PRDM16"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14000"	"PRDM16"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23768516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22242"	"2021-09-14"
"GENCC_000110-HGNC_14000-Orphanet_54260-HP_0000006-GENCC_100009"	"HGNC:14000"	"PRDM16"	"MONDO:0018901"	"left ventricular noncompaction"	"Orphanet:54260"	"Orphanet:54260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14000"	"PRDM16"	"Orphanet:54260"	"Left ventricular noncompaction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23768516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22242"	"2021-09-14"
"GENCC_000110-HGNC_10023-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:10023"	"RIT1"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10023"	"RIT1"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23791108[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22243"	"2021-09-14"
"GENCC_000110-HGNC_188-Orphanet_178307-HP_0000006-GENCC_100009"	"HGNC:188"	"ADAM10"	"MONDO:0014234"	"reticulate acropigmentation of Kitamura"	"Orphanet:178307"	"Orphanet:178307"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:188"	"ADAM10"	"Orphanet:178307"	"Reticulate acropigmentation of Kitamura"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23666529[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22244"	"2021-09-14"
"GENCC_000110-HGNC_21144-Orphanet_2953-HP_0000007-GENCC_100009"	"HGNC:21144"	"DSE"	"MONDO:0011142"	"Ehlers-Danlos syndrome, musculocontractural type"	"Orphanet:2953"	"Orphanet:2953"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21144"	"DSE"	"Orphanet:2953"	"Musculocontractural Ehlers-Danlos syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23704329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22245"	"2021-09-14"
"GENCC_000110-HGNC_2745-Orphanet_3338-HP_0000007-GENCC_100009"	"HGNC:2745"	"DDX3X"	"MONDO:0009021"	"Toriello-Carey syndrome"	"Orphanet:3338"	"Orphanet:3338"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2745"	"DDX3X"	"Orphanet:3338"	"Toriello-Carey syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28371085_26235985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22249"	"2021-09-14"
"GENCC_000110-HGNC_2745-Orphanet_457260-HP_0001417-GENCC_100009"	"HGNC:2745"	"DDX3X"	"MONDO:0018709"	"X-linked intellectual disability-hypotonia-movement disorder syndrome"	"Orphanet:457260"	"Orphanet:457260"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2745"	"DDX3X"	"Orphanet:457260"	"X-linked intellectual disability-hypotonia-movement disorder syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26235985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22249"	"2021-09-14"
"GENCC_000110-HGNC_15906-Orphanet_54260-HP_0000006-GENCC_100009"	"HGNC:15906"	"MYH7B"	"MONDO:0018901"	"left ventricular noncompaction"	"Orphanet:54260"	"Orphanet:54260"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15906"	"MYH7B"	"Orphanet:54260"	"Left ventricular noncompaction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23800289[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22250"	"2021-09-14"
"GENCC_000110-HGNC_4379-Orphanet_428-HP_0000006-GENCC_100009"	"HGNC:4379"	"GNA11"	"MONDO:0018543"	"autosomal dominant hypocalcemia"	"Orphanet:428"	"Orphanet:428"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4379"	"GNA11"	"Orphanet:428"	"Autosomal dominant hypocalcemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23802516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22252"	"2021-09-14"
"GENCC_000110-HGNC_4379-Orphanet_101049-HP_0000006-GENCC_100009"	"HGNC:4379"	"GNA11"	"MONDO:0007792"	"familial hypocalciuric hypercalcemia 2"	"Orphanet:101049"	"Orphanet:101049"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4379"	"GNA11"	"Orphanet:101049"	"Familial hypocalciuric hypercalcemia type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23802516[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22252"	"2021-09-14"
"GENCC_000110-HGNC_1246-Orphanet_75392-HP_0000006-GENCC_100009"	"HGNC:1246"	"C1R"	"MONDO:0007527"	"Ehlers-Danlos syndrome, periodontitis type"	"Orphanet:75392"	"Orphanet:75392"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1246"	"C1R"	"Orphanet:75392"	"Periodontal Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27745832[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22255"	"2021-09-14"
"GENCC_000110-HGNC_1246-Orphanet_300345-HP_0000006-GENCC_100009"	"HGNC:1246"	"C1R"	"MONDO:0013743"	"autosomal systemic lupus erythematosus type 16"	"Orphanet:300345"	"Orphanet:300345"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1246"	"C1R"	"Orphanet:300345"	"Autosomal systemic lupus erythematosus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28544690[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22255"	"2021-09-14"
"GENCC_000110-HGNC_25583-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:25583"	"ODAD2"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25583"	"ODAD2"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23849778[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22256"	"2021-09-14"
"GENCC_000110-HGNC_21493-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:21493"	"DNAAF4"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21493"	"DNAAF4"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23872636[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22257"	"2021-09-14"
"GENCC_000110-HGNC_12371-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:12371"	"RSPH1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12371"	"RSPH1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23993197[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22258"	"2021-09-14"
"GENCC_000110-HGNC_19412-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:19412"	"ZMYND10"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19412"	"ZMYND10"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23891471[PMID]_23891469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22259"	"2021-09-14"
"GENCC_000110-HGNC_6278-Orphanet_275777-HP_0000006-GENCC_100009"	"HGNC:6278"	"KCNK3"	"MONDO:0017148"	"heritable pulmonary arterial hypertension"	"Orphanet:275777"	"Orphanet:275777"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6278"	"KCNK3"	"Orphanet:275777"	"Heritable pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23883380[PMID]_24951767[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22261"	"2021-09-14"
"GENCC_000110-HGNC_22932-Orphanet_588-HP_0000007-GENCC_100009"	"HGNC:22932"	"GMPPB"	"MONDO:0018939"	"muscle-eye-brain disease"	"Orphanet:588"	"Orphanet:588"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22932"	"GMPPB"	"Orphanet:588"	"Muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23768512[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22266"	"2021-09-14"
"GENCC_000110-HGNC_22932-Orphanet_353327-HP_0000007-GENCC_100009"	"HGNC:22932"	"GMPPB"	"MONDO:0018144"	"congenital myasthenic syndromes with glycosylation defect"	"Orphanet:353327"	"Orphanet:353327"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22932"	"GMPPB"	"Orphanet:353327"	"Congenital myasthenic syndromes with glycosylation defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26133662[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22266"	"2021-09-14"
"GENCC_000110-HGNC_22932-Orphanet_363623-HP_0000007-GENCC_100009"	"HGNC:22932"	"GMPPB"	"MONDO:0014142"	"autosomal recessive limb-girdle muscular dystrophy type 2T"	"Orphanet:363623"	"Orphanet:363623"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22932"	"GMPPB"	"Orphanet:363623"	"GMPPB-related limb-girdle muscular dystrophy R19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23768512[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22266"	"2021-09-14"
"GENCC_000110-HGNC_22932-Orphanet_370959-HP_0000007-GENCC_100009"	"HGNC:22932"	"GMPPB"	"MONDO:0018277"	"congenital muscular dystrophy with cerebellar involvement"	"Orphanet:370959"	"Orphanet:370959"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22932"	"GMPPB"	"Orphanet:370959"	"Congenital muscular dystrophy with cerebellar involvement"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23768512[PMID]_21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22266"	"2021-09-14"
"GENCC_000110-HGNC_22932-Orphanet_370968-HP_0000007-GENCC_100009"	"HGNC:22932"	"GMPPB"	"MONDO:0018278"	"congenital muscular dystrophy with intellectual disability"	"Orphanet:370968"	"Orphanet:370968"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22932"	"GMPPB"	"Orphanet:370968"	"Congenital muscular dystrophy with intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23768512[PMID]_21397493[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22266"	"2021-09-14"
"GENCC_000110-HGNC_1917-Orphanet_2382-HP_0000006-GENCC_100009"	"HGNC:1917"	"CHD2"	"MONDO:0016532"	"Lennox-Gastaut syndrome"	"Orphanet:2382"	"Orphanet:2382"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1917"	"CHD2"	"Orphanet:2382"	"Lennox-Gastaut syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23708187[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22267"	"2021-09-14"
"GENCC_000110-HGNC_1917-Orphanet_1942-HP_0000005-GENCC_100009"	"HGNC:1917"	"CHD2"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"Orphanet:1942"	"Orphanet:1942"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:1917"	"CHD2"	"Orphanet:1942"	"Myoclonic-astatic epilepsy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23708187[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22267"	"2021-09-14"
"GENCC_000110-HGNC_10589-Orphanet_130-HP_0000006-GENCC_100009"	"HGNC:10589"	"SCN2B"	"MONDO:0015263"	"Brugada syndrome"	"Orphanet:130"	"Orphanet:130"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10589"	"SCN2B"	"Orphanet:130"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23559163[PMID]_30821013[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22268"	"2021-09-14"
"GENCC_000110-HGNC_10589-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:10589"	"SCN2B"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10589"	"SCN2B"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19808477[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22268"	"2021-09-14"
"GENCC_000110-HGNC_26724-Orphanet_93591-HP_0000007-GENCC_100009"	"HGNC:26724"	"ANKS6"	"MONDO:0011190"	"nephronophthisis 2"	"Orphanet:93591"	"Orphanet:93591"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26724"	"ANKS6"	"Orphanet:93591"	"Infantile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23793029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22269"	"2021-09-14"
"GENCC_000110-HGNC_26724-Orphanet_93592-HP_0000007-GENCC_100009"	"HGNC:26724"	"ANKS6"	"MONDO:0009728"	"nephronophthisis 1"	"Orphanet:93592"	"Orphanet:93592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26724"	"ANKS6"	"Orphanet:93592"	"Juvenile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23793029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22269"	"2021-09-14"
"GENCC_000110-HGNC_26929-Orphanet_98869-HP_0000007-GENCC_100009"	"HGNC:26929"	"CDIN1"	"MONDO:0020337"	"congenital dyserythropoietic anemia type 1"	"Orphanet:98869"	"Orphanet:98869"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26929"	"CDIN1"	"Orphanet:98869"	"Congenital dyserythropoietic anemia type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23716552[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22273"	"2021-09-14"
"GENCC_000110-HGNC_638-Orphanet_2337-HP_0000006-GENCC_100009"	"HGNC:638"	"AQP5"	"MONDO:0006588"	"nonepidermolytic palmoplantar keratoderma"	"Orphanet:2337"	"Orphanet:2337"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:638"	"AQP5"	"Orphanet:2337"	"Non-epidermolytic palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23830519[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22275"	"2021-09-14"
"GENCC_000110-HGNC_17146-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:17146"	"ARL2BP"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17146"	"ARL2BP"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23849777[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22276"	"2021-09-14"
"GENCC_000110-HGNC_8032-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:8032"	"NTRK2"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8032"	"NTRK2"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22282"	"2021-09-14"
"GENCC_000110-HGNC_8032-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:8032"	"NTRK2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8032"	"NTRK2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22282"	"2021-09-14"
"GENCC_000110-HGNC_2579-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:2579"	"CYC1"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2579"	"CYC1"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23910460[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22284"	"2021-09-14"
"GENCC_000110-HGNC_9414-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:9414"	"PRKG1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9414"	"PRKG1"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23910461[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22285"	"2021-09-14"
"GENCC_000110-HGNC_21862-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:21862"	"DYNC2I1"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21862"	"DYNC2I1"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23910462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22290"	"2021-09-14"
"GENCC_000110-HGNC_21862-Orphanet_93271-HP_0000007-GENCC_100009"	"HGNC:21862"	"DYNC2I1"	"MONDO:0019664"	"short rib-polydactyly syndrome, Verma-Naumoff type"	"Orphanet:93271"	"Orphanet:93271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21862"	"DYNC2I1"	"Orphanet:93271"	"Short rib-polydactyly syndrome, Verma-Naumoff type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23910462[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22290"	"2021-09-14"
"GENCC_000110-HGNC_4389-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:4389"	"GNAO1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4389"	"GNAO1"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23993195[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22304"	"2021-09-14"
"GENCC_000110-HGNC_15993-Orphanet_263548-HP_0000007-GENCC_100009"	"HGNC:15993"	"CHST8"	"MONDO:0014555"	"peeling skin syndrome type A"	"Orphanet:263548"	"Orphanet:263548"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15993"	"CHST8"	"Orphanet:263548"	"Peeling skin syndrome type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22289416[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22349"	"2021-09-14"
"GENCC_000110-HGNC_26158-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:26158"	"ELMOD3"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26158"	"ELMOD3"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24039609[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22370"	"2021-09-14"
"GENCC_000110-HGNC_28369-Orphanet_363444-HP_0000007-GENCC_100009"	"HGNC:28369"	"THOC6"	"MONDO:0013362"	"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	"Orphanet:363444"	"Orphanet:363444"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28369"	"THOC6"	"Orphanet:363444"	"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23621916[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22371"	"2021-09-14"
"GENCC_000110-HGNC_23752-Orphanet_79394-HP_0000007-GENCC_100009"	"HGNC:23752"	"CERS3"	"MONDO:0019306"	"congenital non-bullous ichthyosiform erythroderma"	"Orphanet:79394"	"Orphanet:79394"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23752"	"CERS3"	"Orphanet:79394"	"Congenital non-bullous ichthyosiform erythroderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23549421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22372"	"2021-09-14"
"GENCC_000110-HGNC_10542-Orphanet_363981-HP_0000007-GENCC_100009"	"HGNC:10542"	"SBF1"	"MONDO:0014117"	"Charcot-Marie-Tooth disease type 4B3"	"Orphanet:363981"	"Orphanet:363981"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10542"	"SBF1"	"Orphanet:363981"	"Charcot-Marie-Tooth disease type 4B3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23749797[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22378"	"2021-09-14"
"GENCC_000110-HGNC_4217-Orphanet_774-HP_0000006-GENCC_100009"	"HGNC:4217"	"GDF2"	"MONDO:0019180"	"hereditary hemorrhagic telangiectasia"	"Orphanet:774"	"Orphanet:774"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4217"	"GDF2"	"Orphanet:774"	"Hereditary hemorrhagic telangiectasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23972370[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22383"	"2021-09-14"
"GENCC_000110-HGNC_11878-Orphanet_363969-HP_0000007-GENCC_100009"	"HGNC:11878"	"TMPRSS4"	"MONDO:0018218"	"autosomal recessive cerebral atrophy"	"Orphanet:363969"	"Orphanet:363969"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11878"	"TMPRSS4"	"Orphanet:363969"	"Autosomal recessive cerebral atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23957953[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22384"	"2021-09-14"
"GENCC_000110-HGNC_3796-Orphanet_528-HP_0000007-GENCC_100009"	"HGNC:3796"	"FOS"	"MONDO:0018883"	"Berardinelli-Seip congenital lipodystrophy"	"Orphanet:528"	"Orphanet:528"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3796"	"FOS"	"Orphanet:528"	"Congenital generalized lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23919306[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22386"	"2021-09-14"
"GENCC_000110-HGNC_3672-Orphanet_2498-HP_0000006-GENCC_100009"	"HGNC:3672"	"FGF16"	"MONDO:0010669"	"syndactyly type 8"	"Orphanet:2498"	"Orphanet:2498"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3672"	"FGF16"	"Orphanet:2498"	"Syndactyly type 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23709756[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22387"	"2021-09-14"
"GENCC_000110-HGNC_2678-Orphanet_363412-HP_0000007-GENCC_100009"	"HGNC:2678"	"DARS1"	"MONDO:0014115"	"hypomyelination with brain stem and spinal cord involvement and leg spasticity"	"Orphanet:363412"	"Orphanet:363412"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2678"	"DARS1"	"Orphanet:363412"	"Hypomyelination with brain stem and spinal cord involvement and leg spasticity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23643384[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22394"	"2021-09-14"
"GENCC_000110-HGNC_17198-Orphanet_363417-HP_0000007-GENCC_100009"	"HGNC:17198"	"CHSY1"	"MONDO:0011533"	"temtamy preaxial brachydactyly syndrome"	"Orphanet:363417"	"Orphanet:363417"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17198"	"CHSY1"	"Orphanet:363417"	"Temtamy preaxial brachydactyly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21129728[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22395"	"2021-09-14"
"GENCC_000110-HGNC_4576-Orphanet_363432-HP_0000007-GENCC_100009"	"HGNC:4576"	"GRID2"	"MONDO:0014530"	"autosomal recessive spinocerebellar ataxia 18"	"Orphanet:363432"	"Orphanet:363432"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4576"	"GRID2"	"Orphanet:363432"	"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23611888[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22396"	"2021-09-14"
"GENCC_000110-HGNC_27302-Orphanet_363424-HP_0000007-GENCC_100009"	"HGNC:27302"	"IBA57"	"MONDO:0014132"	"multiple mitochondrial dysfunctions syndrome 3"	"Orphanet:363424"	"Orphanet:363424"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27302"	"IBA57"	"Orphanet:363424"	"Multiple mitochondrial dysfunctions syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23462291[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22397"	"2021-09-14"
"GENCC_000110-HGNC_27302-Orphanet_468661-HP_0000007-GENCC_100009"	"HGNC:27302"	"IBA57"	"MONDO:0014644"	"hereditary spastic paraplegia 74"	"Orphanet:468661"	"Orphanet:468661"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27302"	"IBA57"	"Orphanet:468661"	"Autosomal recessive spastic paraplegia type 74"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25609768[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22397"	"2021-09-14"
"GENCC_000110-HGNC_17208-Orphanet_363454-HP_0000006-GENCC_100009"	"HGNC:17208"	"BICD2"	"MONDO:0014121"	"autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures"	"Orphanet:363454"	"Orphanet:363454"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17208"	"BICD2"	"Orphanet:363454"	"BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23664119[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22398"	"2021-09-14"
"GENCC_000110-HGNC_18621-Orphanet_363523-HP_0000007-GENCC_100009"	"HGNC:18621"	"COG6"	"MONDO:0014131"	"hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"	"Orphanet:363523"	"Orphanet:363523"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18621"	"COG6"	"Orphanet:363523"	"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23606727[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22399"	"2021-09-14"
"GENCC_000110-HGNC_18621-Orphanet_464443-HP_0000007-GENCC_100009"	"HGNC:18621"	"COG6"	"MONDO:0013810"	"COG6-congenital disorder of glycosylation"	"Orphanet:464443"	"Orphanet:464443"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18621"	"COG6"	"Orphanet:464443"	"COG6-CGD"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23430903[PMID]_26260076[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22399"	"2021-09-14"
"GENCC_000110-HGNC_25151-Orphanet_363528-HP_0000007-GENCC_100009"	"HGNC:25151"	"ADAT3"	"MONDO:0014119"	"intellectual disability-strabismus syndrome"	"Orphanet:363528"	"Orphanet:363528"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25151"	"ADAT3"	"Orphanet:363528"	"Intellectual disability-strabismus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23620220[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22400"	"2021-09-14"
"GENCC_000110-HGNC_13723-Orphanet_363611-HP_0000006-GENCC_100009"	"HGNC:13723"	"CTCF"	"MONDO:0014213"	"intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome"	"Orphanet:363611"	"Orphanet:363611"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13723"	"CTCF"	"Orphanet:363611"	"CTCF-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23746550[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22402"	"2021-09-14"
"GENCC_000110-HGNC_9175-Orphanet_363649-HP_0000006-GENCC_100009"	"HGNC:9175"	"POLD1"	"MONDO:0014157"	"mandibular hypoplasia-deafness-progeroid syndrome"	"Orphanet:363649"	"Orphanet:363649"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9175"	"POLD1"	"Orphanet:363649"	"Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23770608[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22403"	"2021-09-14"
"GENCC_000110-HGNC_9175-Orphanet_447877-HP_0000006-GENCC_100009"	"HGNC:9175"	"POLD1"	"MONDO:0018653"	"Polymerase proofreading-related adenomatous polyposis"	"Orphanet:447877"	"Orphanet:447877"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9175"	"POLD1"	"Orphanet:447877"	"Polymerase proofreading-related adenomatous polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23263490[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22403"	"2021-09-14"
"GENCC_000110-HGNC_17697-Orphanet_363694-HP_0000007-GENCC_100009"	"HGNC:17697"	"SARS2"	"MONDO:0013458"	"hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"	"Orphanet:363694"	"Orphanet:363694"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17697"	"SARS2"	"Orphanet:363694"	"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21255763[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22404"	"2021-09-14"
"GENCC_000110-HGNC_799-Orphanet_521414-HP_0000006-GENCC_100009"	"HGNC:799"	"ATP1A1"	"MONDO:0054833"	"charcot-marie-tooth disease, axonal, type 2DD"	"Orphanet:521414"	"Orphanet:521414"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:799"	"ATP1A1"	"Orphanet:521414"	"Autosomal dominant Charcot-Marie-Tooth disease type 2DD"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29499166[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22408"	"2021-09-14"
"GENCC_000110-HGNC_1148-Orphanet_1052-HP_0000006-GENCC_100009"	"HGNC:1148"	"BUB1"	"MONDO:0000141"	"mosaic variegated aneuploidy syndrome"	"Orphanet:1052"	"Orphanet:1052"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1148"	"BUB1"	"Orphanet:1052"	"Mosaic variegated aneuploidy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23747338[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22411"	"2021-09-14"
"GENCC_000110-HGNC_1151-Orphanet_1052-HP_0000006-GENCC_100009"	"HGNC:1151"	"BUB3"	"MONDO:0000141"	"mosaic variegated aneuploidy syndrome"	"Orphanet:1052"	"Orphanet:1052"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1151"	"BUB3"	"Orphanet:1052"	"Mosaic variegated aneuploidy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23747338[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22412"	"2021-09-14"
"GENCC_000110-HGNC_1301-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:1301"	"CFAP298"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1301"	"CFAP298"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24094744[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22416"	"2021-09-14"
"GENCC_000110-HGNC_29937-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:29937"	"CCDC65"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29937"	"CCDC65"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24094744[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22417"	"2021-09-14"
"GENCC_000110-HGNC_11212-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:11212"	"SPAG1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11212"	"SPAG1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24055112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22418"	"2021-09-14"
"GENCC_000110-HGNC_26504-Orphanet_98974-HP_0000006-GENCC_100009"	"HGNC:26504"	"AGBL1"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"Orphanet:98974"	"Orphanet:98974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26504"	"AGBL1"	"Orphanet:98974"	"Fuchs endothelial corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24094747[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22419"	"2021-09-14"
"GENCC_000110-HGNC_9865-Orphanet_2470-HP_0000006-GENCC_100009"	"HGNC:9865"	"RARB"	"MONDO:0011010"	"Matthew-Wood syndrome"	"Orphanet:2470"	"Orphanet:2470"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9865"	"RARB"	"Orphanet:2470"	"Matthew-Wood syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24075189[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22420"	"2021-09-14"
"GENCC_000110-HGNC_7745-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:7745"	"NEK2"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7745"	"NEK2"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24043777[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22421"	"2021-09-14"
"GENCC_000110-HGNC_11896-Orphanet_476102-HP_0000006-GENCC_100009"	"HGNC:11896"	"TNFAIP3"	"MONDO:0014761"	"hereditary pediatric Behçet-like disease"	"Orphanet:476102"	"Orphanet:476102"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11896"	"TNFAIP3"	"Orphanet:476102"	"Hereditary pediatric Behþet-like disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26642243[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22423"	"2021-09-14"
"GENCC_000110-HGNC_6742-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:6742"	"LZTR1"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6742"	"LZTR1"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25795793[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22431"	"2021-09-14"
"GENCC_000110-HGNC_3432-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:3432"	"ERBB4"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3432"	"ERBB4"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24119685[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22474"	"2021-09-14"
"GENCC_000110-HGNC_21056-Orphanet_98892-HP_0000006-GENCC_100009"	"HGNC:21056"	"ERMARD"	"MONDO:0020341"	"periventricular nodular heterotopia"	"Orphanet:98892"	"Orphanet:98892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21056"	"ERMARD"	"Orphanet:98892"	"Periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24056535[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22489"	"2021-09-14"
"GENCC_000110-HGNC_1343-Orphanet_1334-HP_0000006-GENCC_100009"	"HGNC:1343"	"TRAF3IP2"	"MONDO:0015279"	"chronic mucocutaneous candidiasis"	"Orphanet:1334"	"Orphanet:1334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1343"	"TRAF3IP2"	"Orphanet:1334"	"Chronic mucocutaneous candidiasis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24120361[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22492"	"2021-09-14"
"GENCC_000110-HGNC_3214-Orphanet_101112-HP_0000006-GENCC_100009"	"HGNC:3214"	"EEF2"	"MONDO:0012246"	"spinocerebellar ataxia type 26"	"Orphanet:101112"	"Orphanet:101112"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3214"	"EEF2"	"Orphanet:101112"	"Spinocerebellar ataxia type 26"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23001565[PMID]_20301317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22496"	"2021-09-14"
"GENCC_000110-HGNC_11023-Orphanet_370943-HP_0000007-GENCC_100009"	"HGNC:11023"	"SLC35A3"	"MONDO:0014248"	"autism spectrum disorder - epilepsy - arthrogryposis syndrome"	"Orphanet:370943"	"Orphanet:370943"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11023"	"SLC35A3"	"Orphanet:370943"	"Autism spectrum disorder-epilepsy-arthrogryposis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24031089[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22522"	"2021-09-14"
"GENCC_000110-HGNC_7795-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:7795"	"NFKB2"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7795"	"NFKB2"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24888602[PMID]_25237204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22523"	"2021-09-14"
"GENCC_000110-HGNC_7795-Orphanet_293978-HP_0000006-GENCC_100009"	"HGNC:7795"	"NFKB2"	"MONDO:0017407"	"deficiency in anterior pituitary function - variable immunodeficiency syndrome"	"Orphanet:293978"	"Orphanet:293978"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7795"	"NFKB2"	"Orphanet:293978"	"Deficiency in anterior pituitary function-variable immunodeficiency syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25524009[PMID]_24140114[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22523"	"2021-09-14"
"GENCC_000110-HGNC_30391-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:30391"	"IFT172"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30391"	"IFT172"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24140113[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22531"	"2021-09-14"
"GENCC_000110-HGNC_30391-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:30391"	"IFT172"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30391"	"IFT172"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25168386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22531"	"2021-09-14"
"GENCC_000110-HGNC_30391-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:30391"	"IFT172"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30391"	"IFT172"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25168386[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22531"	"2021-09-14"
"GENCC_000110-HGNC_30391-Orphanet_140969-HP_0000007-GENCC_100009"	"HGNC:30391"	"IFT172"	"MONDO:0009964"	"short-rib thoracic dysplasia 9 with or without polydactyly"	"Orphanet:140969"	"Orphanet:140969"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30391"	"IFT172"	"Orphanet:140969"	"Saldino-Mainzer syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24140113[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22531"	"2021-09-14"
"GENCC_000110-HGNC_14938-Orphanet_369837-HP_0000007-GENCC_100009"	"HGNC:14938"	"PIGT"	"MONDO:0014165"	"multiple congenital anomalies-hypotonia-seizures syndrome 3"	"Orphanet:369837"	"Orphanet:369837"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14938"	"PIGT"	"Orphanet:369837"	"Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23636107[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22537"	"2021-09-14"
"GENCC_000110-HGNC_20611-Orphanet_370097-HP_0000007-GENCC_100009"	"HGNC:20611"	"SLC24A5"	"MONDO:0018264"	"oculocutaneous albinism type 6"	"Orphanet:370097"	"Orphanet:370097"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20611"	"SLC24A5"	"Orphanet:370097"	"Oculocutaneous albinism type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23364476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22546"	"2021-09-14"
"GENCC_000110-HGNC_28296-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:28296"	"DYNC2I2"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28296"	"DYNC2I2"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24183451[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22549"	"2021-09-14"
"GENCC_000110-HGNC_28296-Orphanet_93271-HP_0000007-GENCC_100009"	"HGNC:28296"	"DYNC2I2"	"MONDO:0019664"	"short rib-polydactyly syndrome, Verma-Naumoff type"	"Orphanet:93271"	"Orphanet:93271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28296"	"DYNC2I2"	"Orphanet:93271"	"Short rib-polydactyly syndrome, Verma-Naumoff type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24183449[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22549"	"2021-09-14"
"GENCC_000110-HGNC_13902-Orphanet_140966-HP_0000007-GENCC_100009"	"HGNC:13902"	"SERPINB7"	"MONDO:0014272"	"palmoplantar keratoderma, Nagashima type"	"Orphanet:140966"	"Orphanet:140966"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13902"	"SERPINB7"	"Orphanet:140966"	"Palmoplantar keratoderma, Nagashima type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24207119[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22550"	"2021-09-14"
"GENCC_000110-HGNC_13681-Orphanet_741-HP_0000006-GENCC_100009"	"HGNC:13681"	"DCHS1"	"MONDO:0008004"	"familial mitral valve prolapse"	"Orphanet:741"	"Orphanet:741"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13681"	"DCHS1"	"Orphanet:741"	"Familial mitral valve prolapse"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26258302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22551"	"2021-09-14"
"GENCC_000110-HGNC_13681-Orphanet_314679-HP_0000007-GENCC_100009"	"HGNC:13681"	"DCHS1"	"MONDO:0017813"	"van Maldergem syndrome"	"Orphanet:314679"	"Orphanet:314679"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13681"	"DCHS1"	"Orphanet:314679"	"Cerebrofacioarticular syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24056717[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22551"	"2021-09-14"
"GENCC_000110-HGNC_23109-Orphanet_2136-HP_0000007-GENCC_100009"	"HGNC:23109"	"FAT4"	"MONDO:0016256"	"Hennekam syndrome"	"Orphanet:2136"	"Orphanet:2136"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23109"	"FAT4"	"Orphanet:2136"	"Hennekam syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24913602[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22552"	"2021-09-14"
"GENCC_000110-HGNC_23109-Orphanet_314679-HP_0000007-GENCC_100009"	"HGNC:23109"	"FAT4"	"MONDO:0017813"	"van Maldergem syndrome"	"Orphanet:314679"	"Orphanet:314679"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23109"	"FAT4"	"Orphanet:314679"	"Cerebrofacioarticular syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24056717[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22552"	"2021-09-14"
"GENCC_000110-HGNC_25751-Orphanet_869-HP_0000007-GENCC_100009"	"HGNC:25751"	"TRAPPC11"	"MONDO:0009279"	"triple-A syndrome"	"Orphanet:869"	"Orphanet:869"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25751"	"TRAPPC11"	"Orphanet:869"	"Triple A syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27707803[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22554"	"2021-09-14"
"GENCC_000110-HGNC_25751-Orphanet_369840-HP_0000007-GENCC_100009"	"HGNC:25751"	"TRAPPC11"	"MONDO:0014144"	"autosomal recessive limb-girdle muscular dystrophy type R18"	"Orphanet:369840"	"Orphanet:369840"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25751"	"TRAPPC11"	"Orphanet:369840"	"TRAPPC11-related limb-girdle muscular dystrophy R18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23830518[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22554"	"2021-09-14"
"GENCC_000110-HGNC_25751-Orphanet_369847-HP_0000007-GENCC_100009"	"HGNC:25751"	"TRAPPC11"	"MONDO:0018243"	"intellectual disability-hyperkinetic movement-truncal ataxia syndrome"	"Orphanet:369847"	"Orphanet:369847"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25751"	"TRAPPC11"	"Orphanet:369847"	"Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23830518[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22554"	"2021-09-14"
"GENCC_000110-HGNC_14579-Orphanet_369852-HP_0000007-GENCC_100009"	"HGNC:14579"	"VPS45"	"MONDO:0014118"	"congenital neutropenia-myelofibrosis-nephromegaly syndrome"	"Orphanet:369852"	"Orphanet:369852"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14579"	"VPS45"	"Orphanet:369852"	"Congenital neutropenia-myelofibrosis-nephromegaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23738510[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22555"	"2021-09-14"
"GENCC_000110-HGNC_29040-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:29040"	"SZT2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29040"	"SZT2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23932106[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22556"	"2021-09-14"
"GENCC_000110-HGNC_13601-Orphanet_369897-HP_0000007-GENCC_100009"	"HGNC:13601"	"FBXL4"	"MONDO:0014198"	"mitochondrial DNA depletion syndrome 13"	"Orphanet:369897"	"Orphanet:369897"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13601"	"FBXL4"	"Orphanet:369897"	"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23993193[PMID]_23993194[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22557"	"2021-09-14"
"GENCC_000110-HGNC_25360-Orphanet_2919-HP_0000007-GENCC_100009"	"HGNC:25360"	"DDX59"	"MONDO:0008267"	"orofaciodigital syndrome V"	"Orphanet:2919"	"Orphanet:2919"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25360"	"DDX59"	"Orphanet:2919"	"Orofaciodigital syndrome type 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23972372[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22558"	"2021-09-14"
"GENCC_000110-HGNC_6055-Orphanet_99000-HP_0000006-GENCC_100009"	"HGNC:6055"	"IMPG1"	"MONDO:0011979"	"adult-onset foveomacular vitelliform dystrophy"	"Orphanet:99000"	"Orphanet:99000"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6055"	"IMPG1"	"Orphanet:99000"	"Adult-onset foveomacular vitelliform dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23993198[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22559"	"2021-09-14"
"GENCC_000110-HGNC_469-Orphanet_369920-HP_0000007-GENCC_100009"	"HGNC:469"	"AMPD2"	"MONDO:0014351"	"pontocerebellar hypoplasia type 9"	"Orphanet:369920"	"Orphanet:369920"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:469"	"AMPD2"	"Orphanet:369920"	"Pontocerebellar hypoplasia type 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23911318[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22560"	"2021-09-14"
"GENCC_000110-HGNC_469-Orphanet_401805-HP_0000007-GENCC_100009"	"HGNC:469"	"AMPD2"	"MONDO:0014305"	"hereditary spastic paraplegia 63"	"Orphanet:401805"	"Orphanet:401805"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:469"	"AMPD2"	"Orphanet:401805"	"Autosomal recessive spastic paraplegia type 63"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22560"	"2021-09-14"
"GENCC_000110-HGNC_16695-Orphanet_369939-HP_0000007-GENCC_100009"	"HGNC:16695"	"BCAP31"	"MONDO:0010334"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"Orphanet:369939"	"Orphanet:369939"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16695"	"BCAP31"	"Orphanet:369939"	"Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24011989[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22561"	"2021-09-14"
"GENCC_000110-HGNC_17110-Orphanet_369970-HP_0000007-GENCC_100009"	"HGNC:17110"	"ADAMTS18"	"MONDO:0014195"	"microcornea-myopic chorioretinal atrophy"	"Orphanet:369970"	"Orphanet:369970"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17110"	"ADAMTS18"	"Orphanet:369970"	"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23818446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22562"	"2021-09-14"
"GENCC_000110-HGNC_16876-Orphanet_3157-HP_0000006-GENCC_100009"	"HGNC:16876"	"ARNT2"	"MONDO:0008428"	"septooptic dysplasia"	"Orphanet:3157"	"Orphanet:3157"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16876"	"ARNT2"	"Orphanet:3157"	"Septo-optic dysplasia spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24022475[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22563"	"2021-09-14"
"GENCC_000110-HGNC_13013-Orphanet_457193-HP_0000006-GENCC_100009"	"HGNC:13013"	"KAT6A"	"MONDO:0014558"	"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"Orphanet:457193"	"Orphanet:457193"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13013"	"KAT6A"	"Orphanet:457193"	"Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25728775[PMID]_25728777[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22564"	"2021-09-14"
"GENCC_000110-HGNC_19041-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:19041"	"COQ8B"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19041"	"COQ8B"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24270420[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22566"	"2021-09-14"
"GENCC_000110-HGNC_10306-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10306"	"RPL15"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10306"	"RPL15"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301769[PMID]_23812780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22567"	"2021-09-14"
"GENCC_000110-HGNC_19082-Orphanet_1146-HP_0000006-GENCC_100009"	"HGNC:19082"	"NALCN"	"MONDO:0015240"	"digitotalar dysmorphism"	"Orphanet:1146"	"Orphanet:1146"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19082"	"NALCN"	"Orphanet:1146"	"Distal arthrogryposis type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25683120[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22569"	"2021-09-14"
"GENCC_000110-HGNC_19082-Orphanet_1147-HP_0000006-GENCC_100009"	"HGNC:19082"	"NALCN"	"MONDO:0011128"	"Sheldon-hall syndrome"	"Orphanet:1147"	"Orphanet:1147"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19082"	"NALCN"	"Orphanet:1147"	"Sheldon-Hall syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25683120[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22569"	"2021-09-14"
"GENCC_000110-HGNC_19082-Orphanet_2053-HP_0000006-GENCC_100009"	"HGNC:19082"	"NALCN"	"MONDO:0008675"	"Freeman-Sheldon syndrome"	"Orphanet:2053"	"Orphanet:2053"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19082"	"NALCN"	"Orphanet:2053"	"Freeman-Sheldon syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25683120[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22569"	"2021-09-14"
"GENCC_000110-HGNC_19082-Orphanet_371364-HP_0000007-GENCC_100009"	"HGNC:19082"	"NALCN"	"MONDO:0014176"	"hypotonia, infantile, with psychomotor retardation and characteristic facies"	"Orphanet:371364"	"Orphanet:371364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19082"	"NALCN"	"Orphanet:371364"	"Hypotonia-speech impairment-severe cognitive delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23749988[PMID]_24075186[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22569"	"2021-09-14"
"GENCC_000110-HGNC_6512-Orphanet_370088-HP_0000007-GENCC_100009"	"HGNC:6512"	"LARS1"	"MONDO:0024568"	"infantile liver failure syndrome 1"	"Orphanet:370088"	"Orphanet:370088"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6512"	"LARS1"	"Orphanet:370088"	"Acute infantile liver failure-multisystemic involvement syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22607940[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22570"	"2021-09-14"
"GENCC_000110-HGNC_6898-Orphanet_397735-HP_0000006-GENCC_100009"	"HGNC:6898"	"MARS1"	"MONDO:0014566"	"Charcot-Marie-Tooth disease axonal type 2U"	"Orphanet:397735"	"Orphanet:397735"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6898"	"MARS1"	"Orphanet:397735"	"Autosomal dominant Charcot-Marie-Tooth disease type 2U"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23729695[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22571"	"2021-09-14"
"GENCC_000110-HGNC_6898-Orphanet_401835-HP_0000007-GENCC_100009"	"HGNC:6898"	"MARS1"	"MONDO:0018422"	"autosomal recessive spastic paraplegia type 70"	"Orphanet:401835"	"Orphanet:401835"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6898"	"MARS1"	"Orphanet:401835"	"Autosomal recessive spastic paraplegia type 70"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22571"	"2021-09-14"
"GENCC_000110-HGNC_6898-Orphanet_440427-HP_0000007-GENCC_100009"	"HGNC:6898"	"MARS1"	"MONDO:0014206"	"severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"	"Orphanet:440427"	"Orphanet:440427"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6898"	"MARS1"	"Orphanet:440427"	"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24103465[PMID]_25913036[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22571"	"2021-09-14"
"GENCC_000110-HGNC_12682-Orphanet_79452-HP_0000006-GENCC_100009"	"HGNC:12682"	"VEGFC"	"MONDO:0019313"	"lymphatic malformation"	"Orphanet:79452"	"Orphanet:79452"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12682"	"VEGFC"	"Orphanet:79452"	"Milroy disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23410910[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22573"	"2021-09-14"
"GENCC_000110-HGNC_15516-Orphanet_1425-HP_0000007-GENCC_100009"	"HGNC:15516"	"XYLT1"	"MONDO:0015426"	"Desbuquois dysplasia"	"Orphanet:1425"	"Orphanet:1425"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15516"	"XYLT1"	"Orphanet:1425"	"Desbuquois syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24581741[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22574"	"2021-09-14"
"GENCC_000110-HGNC_15516-Orphanet_370930-HP_0000007-GENCC_100009"	"HGNC:15516"	"XYLT1"	"MONDO:0018273"	"XYLT1-congenital disorder of glycosylation"	"Orphanet:370930"	"Orphanet:370930"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15516"	"XYLT1"	"Orphanet:370930"	"XYLT1-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23982343[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22574"	"2021-09-14"
"GENCC_000110-HGNC_16133-Orphanet_2510-HP_0000007-GENCC_100009"	"HGNC:16133"	"TBC1D20"	"MONDO:0016649"	"Warburg micro syndrome"	"Orphanet:2510"	"Orphanet:2510"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16133"	"TBC1D20"	"Orphanet:2510"	"Micro syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24239381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22575"	"2021-09-14"
"GENCC_000110-HGNC_24200-Orphanet_221043-HP_0000006-GENCC_100009"	"HGNC:24200"	"FAM111B"	"MONDO:0014310"	"hereditary sclerosing poikiloderma with tendon and pulmonary involvement"	"Orphanet:221043"	"Orphanet:221043"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24200"	"FAM111B"	"Orphanet:221043"	"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24268661[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22576"	"2021-09-14"
"GENCC_000110-HGNC_3176-Orphanet_137888-HP_0000006-GENCC_100009"	"HGNC:3176"	"EDN1"	"MONDO:0000107"	"auriculocondylar syndrome"	"Orphanet:137888"	"Orphanet:137888"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3176"	"EDN1"	"Orphanet:137888"	"Auriculocondylar syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24268655[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22577"	"2021-09-14"
"GENCC_000110-HGNC_16905-Orphanet_171430-HP_0000007-GENCC_100009"	"HGNC:16905"	"KLHL41"	"MONDO:0015735"	"severe congenital nemaline myopathy"	"Orphanet:171430"	"Orphanet:171430"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16905"	"KLHL41"	"Orphanet:171430"	"Severe congenital nemaline myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24268659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22578"	"2021-09-14"
"GENCC_000110-HGNC_16905-Orphanet_171433-HP_0000006-GENCC_100009"	"HGNC:16905"	"KLHL41"	"MONDO:0015736"	"intermediate nemaline myopathy"	"Orphanet:171433"	"Orphanet:171433"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16905"	"KLHL41"	"Orphanet:171433"	"Intermediate nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24268659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22578"	"2021-09-14"
"GENCC_000110-HGNC_16905-Orphanet_171436-HP_0000006-GENCC_100009"	"HGNC:16905"	"KLHL41"	"MONDO:0015737"	"typical nemaline myopathy"	"Orphanet:171436"	"Orphanet:171436"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16905"	"KLHL41"	"Orphanet:171436"	"Typical nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24268659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22578"	"2021-09-14"
"GENCC_000110-HGNC_16905-Orphanet_171439-HP_0000006-GENCC_100009"	"HGNC:16905"	"KLHL41"	"MONDO:0015738"	"childhood-onset nemaline myopathy"	"Orphanet:171439"	"Orphanet:171439"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16905"	"KLHL41"	"Orphanet:171439"	"Childhood-onset nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24268659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22578"	"2021-09-14"
"GENCC_000110-HGNC_1777-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:1777"	"CDK6"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1777"	"CDK6"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23918663[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22579"	"2021-09-14"
"GENCC_000110-HGNC_9639-Orphanet_2020-HP_0000006-GENCC_100009"	"HGNC:9639"	"HACD1"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"Orphanet:2020"	"Orphanet:2020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9639"	"HACD1"	"Orphanet:2020"	"Congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23933735[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22580"	"2021-09-14"
"GENCC_000110-HGNC_11326-Orphanet_370927-HP_0001417-GENCC_100009"	"HGNC:11326"	"SSR4"	"MONDO:0010490"	"SSR4-congenital disorder of glycosylation"	"Orphanet:370927"	"Orphanet:370927"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:11326"	"SSR4"	"Orphanet:370927"	"SSR4-CDG"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24218363[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22581"	"2021-09-14"
"GENCC_000110-HGNC_9107-Orphanet_570-HP_0000006-GENCC_100009"	"HGNC:9107"	"PLXND1"	"MONDO:0008006"	"Mobius syndrome"	"Orphanet:570"	"Orphanet:570"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9107"	"PLXND1"	"Orphanet:570"	"Moebius syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26068067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22582"	"2021-09-14"
"GENCC_000110-HGNC_9107-Orphanet_3384-HP_0000007-GENCC_100009"	"HGNC:9107"	"PLXND1"	"MONDO:0018072"	"persistent truncus arteriosus"	"Orphanet:3384"	"Orphanet:3384"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9107"	"PLXND1"	"Orphanet:3384"	"Truncus arteriosus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24254849[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22582"	"2021-09-14"
"GENCC_000110-HGNC_28072-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:28072"	"LYRM7"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28072"	"LYRM7"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24014394[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22583"	"2021-09-14"
"GENCC_000110-HGNC_6172-Orphanet_370921-HP_0000007-GENCC_100009"	"HGNC:6172"	"STT3A"	"MONDO:0014270"	"STT3A-congenital disorder of glycosylation"	"Orphanet:370921"	"Orphanet:370921"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6172"	"STT3A"	"Orphanet:370921"	"STT3A-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23842455[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22587"	"2021-09-14"
"GENCC_000110-HGNC_30611-Orphanet_370924-HP_0000007-GENCC_100009"	"HGNC:30611"	"STT3B"	"MONDO:0014271"	"STT3B-congenital disorder of glycosylation"	"Orphanet:370924"	"Orphanet:370924"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30611"	"STT3B"	"Orphanet:370924"	"STT3B-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23842455[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22588"	"2021-09-14"
"GENCC_000110-HGNC_22923-Orphanet_869-HP_0000007-GENCC_100009"	"HGNC:22923"	"GMPPA"	"MONDO:0009279"	"triple-A syndrome"	"Orphanet:869"	"Orphanet:869"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22923"	"GMPPA"	"Orphanet:869"	"Triple A syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24035193[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22589"	"2021-09-14"
"GENCC_000110-HGNC_17194-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:17194"	"NDUFA13"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17194"	"NDUFA13"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25901006[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22591"	"2021-09-14"
"GENCC_000110-HGNC_26193-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:26193"	"CSPP1"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26193"	"CSPP1"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"NULL"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22594"	"2021-09-14"
"GENCC_000110-HGNC_26193-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:26193"	"CSPP1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26193"	"CSPP1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24360808[PMID]_24360803[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22594"	"2021-09-14"
"GENCC_000110-HGNC_26193-Orphanet_397715-HP_0000007-GENCC_100009"	"HGNC:26193"	"CSPP1"	"MONDO:0018342"	"Joubert syndrome with Jeune asphyxiating thoracic dystrophy"	"Orphanet:397715"	"Orphanet:397715"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26193"	"CSPP1"	"Orphanet:397715"	"Joubert syndrome with Jeune asphyxiating thoracic dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24360808[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22594"	"2021-09-14"
"GENCC_000110-HGNC_28093-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:28093"	"BBIP1"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28093"	"BBIP1"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24026985[PMID]_20301537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22595"	"2021-09-14"
"GENCC_000110-HGNC_18683-Orphanet_3102-HP_0000007-GENCC_100009"	"HGNC:18683"	"EIF4A3"	"MONDO:0009998"	"Richieri Costa-Pereira syndrome"	"Orphanet:3102"	"Orphanet:3102"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18683"	"EIF4A3"	"Orphanet:3102"	"Richieri Costa-Pereira syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24360804[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22596"	"2021-09-14"
"GENCC_000110-HGNC_25839-Orphanet_888-HP_0000006-GENCC_100009"	"HGNC:25839"	"GRHL3"	"MONDO:0019508"	"van der Woude syndrome"	"Orphanet:888"	"Orphanet:888"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25839"	"GRHL3"	"Orphanet:888"	"Van der Woude syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24360809[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22597"	"2021-09-14"
"GENCC_000110-HGNC_4238-Orphanet_734-HP_0000006-GENCC_100009"	"HGNC:4238"	"GFI1B"	"MONDO:0008495"	"platelet storage pool deficiency"	"Orphanet:734"	"Orphanet:734"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4238"	"GFI1B"	"Orphanet:734"	"Alpha delta granule deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28041820[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22599"	"2021-09-14"
"GENCC_000110-HGNC_4238-Orphanet_140957-HP_0000006-GENCC_100009"	"HGNC:4238"	"GFI1B"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"Orphanet:140957"	"Orphanet:140957"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4238"	"GFI1B"	"Orphanet:140957"	"Autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23927492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22599"	"2021-09-14"
"GENCC_000110-HGNC_5318-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:5318"	"TNC"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5318"	"TNC"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23936043[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22607"	"2021-09-14"
"GENCC_000110-HGNC_8754-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:8754"	"PCYT1A"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8754"	"PCYT1A"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28272537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22624"	"2021-09-14"
"GENCC_000110-HGNC_8754-Orphanet_85167-HP_0000007-GENCC_100009"	"HGNC:8754"	"PCYT1A"	"MONDO:0012160"	"spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	"Orphanet:85167"	"Orphanet:85167"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8754"	"PCYT1A"	"Orphanet:85167"	"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24387990[PMID]_24387991[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22624"	"2021-09-14"
"GENCC_000110-HGNC_19687-Orphanet_31837-HP_0000007-GENCC_100009"	"HGNC:19687"	"EIF2AK4"	"MONDO:0009937"	"pulmonary venoocclusive disease"	"Orphanet:31837"	"Orphanet:31837"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19687"	"EIF2AK4"	"Orphanet:31837"	"Pulmonary venoocclusive disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24292273[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22632"	"2021-09-14"
"GENCC_000110-HGNC_19687-Orphanet_199241-HP_0000006-GENCC_100009"	"HGNC:19687"	"EIF2AK4"	"MONDO:0009329"	"pulmonary venoocclusive disease 2"	"Orphanet:199241"	"Orphanet:199241"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19687"	"EIF2AK4"	"Orphanet:199241"	"Pulmonary capillary hemangiomatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24135949[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22632"	"2021-09-14"
"GENCC_000110-HGNC_19687-Orphanet_275777-HP_0000006-GENCC_100009"	"HGNC:19687"	"EIF2AK4"	"MONDO:0017148"	"heritable pulmonary arterial hypertension"	"Orphanet:275777"	"Orphanet:275777"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19687"	"EIF2AK4"	"Orphanet:275777"	"Heritable pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25512148[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22632"	"2021-09-14"
"GENCC_000110-HGNC_9587-Orphanet_2658-HP_0000006-GENCC_100009"	"HGNC:9587"	"PTDSS1"	"MONDO:0007892"	"Lenz-Majewski hyperostotic dwarfism"	"Orphanet:2658"	"Orphanet:2658"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9587"	"PTDSS1"	"Orphanet:2658"	"Lenz-Majewski hyperostotic dwarfism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24241535[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22633"	"2021-09-14"
"GENCC_000110-HGNC_8788-Orphanet_2754-HP_0000007-GENCC_100009"	"HGNC:8788"	"PDE6D"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"Orphanet:2754"	"Orphanet:2754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8788"	"PDE6D"	"Orphanet:2754"	"Orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24166846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22646"	"2021-09-14"
"GENCC_000110-HGNC_22954-Orphanet_79145-HP_0000006-GENCC_100009"	"HGNC:22954"	"POGLUT1"	"MONDO:0008371"	"Dowling-Degos disease"	"Orphanet:79145"	"Orphanet:79145"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:22954"	"POGLUT1"	"Orphanet:79145"	"Dowling-Degos disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24387993[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22647"	"2021-09-14"
"GENCC_000110-HGNC_22954-Orphanet_480682-HP_0000007-GENCC_100009"	"HGNC:22954"	"POGLUT1"	"MONDO:0014977"	"autosomal recessive limb-girdle muscular dystrophy type 2R1"	"Orphanet:480682"	"Orphanet:480682"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22954"	"POGLUT1"	"Orphanet:480682"	"POGLUT1-related limb-girdle muscular dystrophy R21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27807076[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22647"	"2021-09-14"
"GENCC_000110-HGNC_26262-Orphanet_391307-HP_0000007-GENCC_100009"	"HGNC:26262"	"TTI2"	"MONDO:0014238"	"severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"	"Orphanet:391307"	"Orphanet:391307"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26262"	"TTI2"	"Orphanet:391307"	"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23956177[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22651"	"2021-09-14"
"GENCC_000110-HGNC_19297-Orphanet_391316-HP_0000007-GENCC_100009"	"HGNC:19297"	"TNK2"	"MONDO:0018314"	"infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"	"Orphanet:391316"	"Orphanet:391316"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19297"	"TNK2"	"Orphanet:391316"	"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23686771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22652"	"2021-09-14"
"GENCC_000110-HGNC_9091-Orphanet_391330-HP_0001417-GENCC_100009"	"HGNC:9091"	"PLS3"	"MONDO:0018315"	"X-linked osteoporosis with fractures"	"Orphanet:391330"	"Orphanet:391330"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9091"	"PLS3"	"Orphanet:391330"	"X-linked osteoporosis with fractures"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24088043[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22653"	"2021-09-14"
"GENCC_000110-HGNC_16088-Orphanet_391348-HP_0000007-GENCC_100009"	"HGNC:16088"	"SFXN4"	"MONDO:0014261"	"growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"	"Orphanet:391348"	"Orphanet:391348"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16088"	"SFXN4"	"Orphanet:391348"	"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24119684[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22654"	"2021-09-14"
"GENCC_000110-HGNC_24526-Orphanet_36386-HP_0000006-GENCC_100009"	"HGNC:24526"	"ATL3"	"MONDO:0018213"	"hereditary sensory and autonomic neuropathy type 1"	"Orphanet:36386"	"Orphanet:36386"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24526"	"ATL3"	"Orphanet:36386"	"Hereditary sensory and autonomic neuropathy type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24459106[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22655"	"2021-09-14"
"GENCC_000110-HGNC_25781-Orphanet_189427-HP_0000006-GENCC_100009"	"HGNC:25781"	"ARMC5"	"MONDO:0009049"	"Cushing syndrome due to macronodular adrenal hyperplasia"	"Orphanet:189427"	"Orphanet:189427"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25781"	"ARMC5"	"Orphanet:189427"	"Cushing syndrome due to macronodular adrenal hyperplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24283224[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22656"	"2021-09-14"
"GENCC_000110-HGNC_29569-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:29569"	"LIPT1"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29569"	"LIPT1"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24341803[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22657"	"2021-09-14"
"GENCC_000110-HGNC_29569-Orphanet_401862-HP_0000007-GENCC_100009"	"HGNC:29569"	"LIPT1"	"MONDO:0014576"	"lipoyl transferase 1 deficiency"	"Orphanet:401862"	"Orphanet:401862"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29569"	"LIPT1"	"Orphanet:401862"	"Lipoyl transferase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24777537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22657"	"2021-09-14"
"GENCC_000110-HGNC_2355-Orphanet_98784-HP_0000006-GENCC_100009"	"HGNC:2355"	"CRH"	"MONDO:0020300"	"autosomal dominant nocturnal frontal lobe epilepsy"	"Orphanet:98784"	"Orphanet:98784"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2355"	"CRH"	"Orphanet:98784"	"Autosomal dominant nocturnal frontal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"16222669[PMID]_20301348[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22658"	"2021-09-14"
"GENCC_000110-HGNC_29605-Orphanet_391366-HP_0000007-GENCC_100009"	"HGNC:29605"	"SH2B3"	"MONDO:0018317"	"growth retardation-mild developmental delay-chronic hepatitis syndrome"	"Orphanet:391366"	"Orphanet:391366"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29605"	"SH2B3"	"Orphanet:391366"	"Growth retardation-mild developmental delay-chronic hepatitis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23908464[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22661"	"2021-09-14"
"GENCC_000110-HGNC_753-Orphanet_391376-HP_0000007-GENCC_100009"	"HGNC:753"	"ASNS"	"MONDO:0014258"	"congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"	"Orphanet:391376"	"Orphanet:391376"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:753"	"ASNS"	"Orphanet:391376"	"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24139043[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22662"	"2021-09-14"
"GENCC_000110-HGNC_497-Orphanet_391389-HP_0000006-GENCC_100009"	"HGNC:497"	"TRPA1"	"MONDO:0014021"	"familial episodic pain syndrome with predominantly upper body involvement"	"Orphanet:391389"	"Orphanet:391389"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:497"	"TRPA1"	"Orphanet:391389"	"Familial episodic pain syndrome with predominantly upper body involvement"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20547126[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22663"	"2021-09-14"
"GENCC_000110-HGNC_28403-Orphanet_391408-HP_0000007-GENCC_100009"	"HGNC:28403"	"TRMT10A"	"MONDO:0018320"	"primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"	"Orphanet:391408"	"Orphanet:391408"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28403"	"TRMT10A"	"Orphanet:391408"	"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24204302[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22664"	"2021-09-14"
"GENCC_000110-HGNC_11503-Orphanet_2828-HP_0000007-GENCC_100009"	"HGNC:11503"	"SYNJ1"	"MONDO:0017279"	"young-onset Parkinson disease"	"Orphanet:2828"	"Orphanet:2828"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11503"	"SYNJ1"	"Orphanet:2828"	"Young-onset Parkinson disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23804577[PMID]_23804563[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22665"	"2021-09-14"
"GENCC_000110-HGNC_11503-Orphanet_391411-HP_0000007-GENCC_100009"	"HGNC:11503"	"SYNJ1"	"MONDO:0018321"	"atypical juvenile parkinsonism"	"Orphanet:391411"	"Orphanet:391411"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11503"	"SYNJ1"	"Orphanet:391411"	"Atypical juvenile parkinsonism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23804563[PMID]_23804577[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22665"	"2021-09-14"
"GENCC_000110-HGNC_11503-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:11503"	"SYNJ1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11503"	"SYNJ1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27435091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22665"	"2021-09-14"
"GENCC_000110-HGNC_7096-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:7096"	"MID2"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:7096"	"MID2"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24115387[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22666"	"2021-09-14"
"GENCC_000110-HGNC_15625-Orphanet_391677-HP_0000007-GENCC_100009"	"HGNC:15625"	"NBAS"	"MONDO:0013889"	"short stature-optic atrophy-Pelger-HuC+t anomaly syndrome"	"Orphanet:391677"	"Orphanet:391677"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15625"	"NBAS"	"Orphanet:391677"	"Short stature-optic atrophy-Pelger-HuÙt anomaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20577004[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22667"	"2021-09-14"
"GENCC_000110-HGNC_15625-Orphanet_464724-HP_0000007-GENCC_100009"	"HGNC:15625"	"NBAS"	"MONDO:0014659"	"infantile liver failure syndrome 2"	"Orphanet:464724"	"Orphanet:464724"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15625"	"NBAS"	"Orphanet:464724"	"Fever-associated acute infantile liver failure syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26073778[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22667"	"2021-09-14"
"GENCC_000110-HGNC_245-Orphanet_210141-HP_0000007-GENCC_100009"	"HGNC:245"	"ADD3"	"MONDO:0016215"	"spastic quadriplegic cerebral palsy"	"Orphanet:210141"	"Orphanet:210141"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:245"	"ADD3"	"Orphanet:210141"	"Inherited congenital spastic tetraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23836506[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22668"	"2021-09-14"
"GENCC_000110-HGNC_21237-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:21237"	"UQCC2"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21237"	"UQCC2"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24385928[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22669"	"2021-09-14"
"GENCC_000110-HGNC_23719-Orphanet_247262-HP_0000007-GENCC_100009"	"HGNC:23719"	"PGAP3"	"MONDO:0016596"	"hyperphosphatasia-intellectual disability syndrome"	"Orphanet:247262"	"Orphanet:247262"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23719"	"PGAP3"	"Orphanet:247262"	"Hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24439110[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22670"	"2021-09-14"
"GENCC_000110-HGNC_6144-Orphanet_1848-HP_0000007-GENCC_100009"	"HGNC:6144"	"ITGA8"	"MONDO:0015986"	"bilateral renal agenesis"	"Orphanet:1848"	"Orphanet:1848"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6144"	"ITGA8"	"Orphanet:1848"	"Renal agenesis, bilateral"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24439109[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22671"	"2021-09-14"
"GENCC_000110-HGNC_16262-Orphanet_1473-HP_0000006-GENCC_100009"	"HGNC:16262"	"YAP1"	"MONDO:0007355"	"uveal coloboma-cleft lip and palate-intellectual disability"	"Orphanet:1473"	"Orphanet:1473"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16262"	"YAP1"	"Orphanet:1473"	"Uveal coloboma-cleft lip and palate-intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24462371[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22672"	"2021-09-14"
"GENCC_000110-HGNC_11427-Orphanet_412057-HP_0000007-GENCC_100009"	"HGNC:11427"	"STUB1"	"MONDO:0014339"	"autosomal recessive spinocerebellar ataxia 16"	"Orphanet:412057"	"Orphanet:412057"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11427"	"STUB1"	"Orphanet:412057"	"Autosomal recessive cerebellar ataxia due to STUB1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24312598[PMID]_24742043[PMID]_25258038[PMID]_24113144[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22673"	"2021-09-14"
"GENCC_000110-HGNC_282-Orphanet_86814-HP_0000006-GENCC_100009"	"HGNC:282"	"ADRA2B"	"MONDO:0019448"	"benign adult familial myoclonic epilepsy"	"Orphanet:86814"	"Orphanet:86814"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:282"	"ADRA2B"	"Orphanet:86814"	"Benign adult familial myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24114805[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22675"	"2021-09-14"
"GENCC_000110-HGNC_9955-Orphanet_476102-HP_0000006-GENCC_100009"	"HGNC:9955"	"RELA"	"MONDO:0014761"	"hereditary pediatric Behçet-like disease"	"Orphanet:476102"	"Orphanet:476102"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9955"	"RELA"	"Orphanet:476102"	"Hereditary pediatric Behþet-like disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32969189[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22677"	"2021-09-14"
"GENCC_000110-HGNC_1839-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:1839"	"ADA2"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1839"	"ADA2"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30503522[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22679"	"2021-09-14"
"GENCC_000110-HGNC_1839-Orphanet_820-HP_0000006-GENCC_100009"	"HGNC:1839"	"ADA2"	"MONDO:0008436"	"Sneddon syndrome"	"Orphanet:820"	"Orphanet:820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1839"	"ADA2"	"Orphanet:820"	"Sneddon syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25075847[PMID]_25551694[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22679"	"2021-09-14"
"GENCC_000110-HGNC_1839-Orphanet_404553-HP_0000007-GENCC_100009"	"HGNC:1839"	"ADA2"	"MONDO:0014306"	"vasculitis due to ADA2 deficiency"	"Orphanet:404553"	"Orphanet:404553"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1839"	"ADA2"	"Orphanet:404553"	"Vasculitis due to ADA2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24552284[PMID]_24552285[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22679"	"2021-09-14"
"GENCC_000110-HGNC_40038-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:40038"	"PET100"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:40038"	"PET100"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24462369[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22680"	"2021-09-14"
"GENCC_000110-HGNC_7687-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:7687"	"NDUFA4"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7687"	"NDUFA4"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23746447[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22681"	"2021-09-14"
"GENCC_000110-HGNC_8022-Orphanet_320396-HP_0000007-GENCC_100009"	"HGNC:8022"	"NT5C2"	"MONDO:0013165"	"hereditary spastic paraplegia 45"	"Orphanet:320396"	"Orphanet:320396"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8022"	"NT5C2"	"Orphanet:320396"	"Autosomal recessive spastic paraplegia type 45"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22735"	"2021-09-14"
"GENCC_000110-HGNC_6317-Orphanet_397946-HP_0000006-GENCC_100009"	"HGNC:6317"	"KIF1C"	"MONDO:0012651"	"spastic ataxia 2"	"Orphanet:397946"	"Orphanet:397946"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6317"	"KIF1C"	"Orphanet:397946"	"Autosomal spastic paraplegia type 58"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24319291[PMID]_24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22736"	"2021-09-14"
"GENCC_000110-HGNC_4704-Orphanet_288-HP_0000006-GENCC_100009"	"HGNC:4704"	"GYPC"	"MONDO:0017319"	"hereditary elliptocytosis"	"Orphanet:288"	"Orphanet:288"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4704"	"GYPC"	"Orphanet:288"	"Hereditary elliptocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"1884026[PMID]_8353290[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22737"	"2021-09-14"
"GENCC_000110-HGNC_23213-Orphanet_83639-HP_0000007-GENCC_100009"	"HGNC:23213"	"PIGW"	"MONDO:0012465"	"hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	"Orphanet:83639"	"Orphanet:83639"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23213"	"PIGW"	"Orphanet:83639"	"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27626616[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22796"	"2021-09-14"
"GENCC_000110-HGNC_23213-Orphanet_247262-HP_0000007-GENCC_100009"	"HGNC:23213"	"PIGW"	"MONDO:0016596"	"hyperphosphatasia-intellectual disability syndrome"	"Orphanet:247262"	"Orphanet:247262"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23213"	"PIGW"	"Orphanet:247262"	"Hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24367057[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22796"	"2021-09-14"
"GENCC_000110-HGNC_30343-Orphanet_411602-HP_0000006-GENCC_100009"	"HGNC:30343"	"DNAJC13"	"MONDO:0018466"	"hereditary late onset Parkinson disease"	"Orphanet:411602"	"Orphanet:411602"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30343"	"DNAJC13"	"Orphanet:411602"	"Hereditary late-onset Parkinson disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24218364[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22797"	"2021-09-14"
"GENCC_000110-HGNC_12406-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:12406"	"TUB"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12406"	"TUB"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24375934[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22799"	"2021-09-14"
"GENCC_000110-HGNC_21365-Orphanet_397593-HP_0000007-GENCC_100009"	"HGNC:21365"	"LYRM4"	"MONDO:0018337"	"severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"	"Orphanet:397593"	"Orphanet:397593"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21365"	"LYRM4"	"Orphanet:397593"	"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23814038[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22801"	"2021-09-14"
"GENCC_000110-HGNC_15910-Orphanet_397593-HP_0000007-GENCC_100009"	"HGNC:15910"	"NFS1"	"MONDO:0018337"	"severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"	"Orphanet:397593"	"Orphanet:397593"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15910"	"NFS1"	"Orphanet:397593"	"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24498631[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22802"	"2021-09-14"
"GENCC_000110-HGNC_28844-Orphanet_139525-HP_0000006-GENCC_100009"	"HGNC:28844"	"FBXO38"	"MONDO:0015352"	"distal hereditary motor neuropathy type 2"	"Orphanet:139525"	"Orphanet:139525"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28844"	"FBXO38"	"Orphanet:139525"	"Distal hereditary motor neuropathy type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24207122[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22803"	"2021-09-14"
"GENCC_000110-HGNC_8977-Orphanet_397596-HP_0000006-GENCC_100009"	"HGNC:8977"	"PIK3CD"	"MONDO:0018338"	"activated PI3K-delta syndrome"	"Orphanet:397596"	"Orphanet:397596"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8977"	"PIK3CD"	"Orphanet:397596"	"Activated PI3K-delta syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24136356[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22804"	"2021-09-14"
"GENCC_000110-HGNC_6404-Orphanet_397612-HP_0000007-GENCC_100009"	"HGNC:6404"	"KPTN"	"MONDO:0014289"	"macrocephaly-developmental delay syndrome"	"Orphanet:397612"	"Orphanet:397612"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6404"	"KPTN"	"Orphanet:397612"	"Macrocephaly-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24239382[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22805"	"2021-09-14"
"GENCC_000110-HGNC_28209-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:28209"	"CEP19"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28209"	"CEP19"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29127258[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22806"	"2021-09-14"
"GENCC_000110-HGNC_28209-Orphanet_397615-HP_0000007-GENCC_100009"	"HGNC:28209"	"CEP19"	"MONDO:0014309"	"obesity due to CEP19 deficiency"	"Orphanet:397615"	"Orphanet:397615"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28209"	"CEP19"	"Orphanet:397615"	"Obesity due to CEP19 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24268657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22806"	"2021-09-14"
"GENCC_000110-HGNC_32434-Orphanet_397618-HP_0000007-GENCC_100009"	"HGNC:32434"	"SLC38A8"	"MONDO:0012216"	"foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"	"Orphanet:397618"	"Orphanet:397618"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:32434"	"SLC38A8"	"Orphanet:397618"	"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24290379[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22807"	"2021-09-14"
"GENCC_000110-HGNC_4612-Orphanet_397623-HP_0000007-GENCC_100009"	"HGNC:4612"	"GSC"	"MONDO:0011227"	"short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"	"Orphanet:397623"	"Orphanet:397623"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4612"	"GSC"	"Orphanet:397623"	"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24290375[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22808"	"2021-09-14"
"GENCC_000110-HGNC_9446-Orphanet_397685-HP_0000006-GENCC_100009"	"HGNC:9446"	"PRLR"	"MONDO:0014250"	"familial hyperprolactinemia"	"Orphanet:397685"	"Orphanet:397685"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9446"	"PRLR"	"Orphanet:397685"	"Familial hyperprolactinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24195502[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22809"	"2021-09-14"
"GENCC_000110-HGNC_15865-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:15865"	"KIZ"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15865"	"KIZ"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24680887[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22812"	"2021-09-14"
"GENCC_000110-HGNC_6161-Orphanet_100031-HP_0000006-GENCC_100009"	"HGNC:6161"	"ITGB6"	"MONDO:0015047"	"amelogenesis imperfecta type 1"	"Orphanet:100031"	"Orphanet:100031"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6161"	"ITGB6"	"Orphanet:100031"	"Hypoplastic amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24305999[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22813"	"2021-09-14"
"GENCC_000110-HGNC_6161-Orphanet_100032-HP_0000006-GENCC_100009"	"HGNC:6161"	"ITGB6"	"MONDO:0007538"	"amelogenesis imperfecta, type 3A"	"Orphanet:100032"	"Orphanet:100032"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6161"	"ITGB6"	"Orphanet:100032"	"Hypocalcified amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24319098[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22813"	"2021-09-14"
"GENCC_000110-HGNC_24539-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:24539"	"NECAP1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24539"	"NECAP1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24399846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22814"	"2021-09-14"
"GENCC_000110-HGNC_29326-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:29326"	"SLC7A14"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29326"	"SLC7A14"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24670872[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22816"	"2021-09-14"
"GENCC_000110-HGNC_3677-Orphanet_1848-HP_0000007-GENCC_100009"	"HGNC:3677"	"FGF20"	"MONDO:0015986"	"bilateral renal agenesis"	"Orphanet:1848"	"Orphanet:1848"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3677"	"FGF20"	"Orphanet:1848"	"Renal agenesis, bilateral"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22698282[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22817"	"2021-09-14"
"GENCC_000110-HGNC_12632-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:12632"	"USP9X"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:12632"	"USP9X"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24607389[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22818"	"2021-09-14"
"GENCC_000110-HGNC_12632-Orphanet_480880-HP_0001417-GENCC_100009"	"HGNC:12632"	"USP9X"	"MONDO:0018821"	"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"	"Orphanet:480880"	"Orphanet:480880"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:12632"	"USP9X"	"Orphanet:480880"	"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26833328[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22818"	"2021-09-14"
"GENCC_000110-HGNC_1583-Orphanet_83473-HP_0000006-GENCC_100009"	"HGNC:1583"	"CCND2"	"MONDO:0019375"	"megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"	"Orphanet:83473"	"Orphanet:83473"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1583"	"CCND2"	"Orphanet:83473"	"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24705253[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22819"	"2021-09-14"
"GENCC_000110-HGNC_25608-Orphanet_247198-HP_0000007-GENCC_100009"	"HGNC:25608"	"VPS53"	"MONDO:0016589"	"progressive cerebello-cerebral atrophy"	"Orphanet:247198"	"Orphanet:247198"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25608"	"VPS53"	"Orphanet:247198"	"Progressive cerebello-cerebral atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24577744[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22820"	"2021-09-14"
"GENCC_000110-HGNC_11538-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:11538"	"TAF4B"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11538"	"TAF4B"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24431330[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22821"	"2021-09-14"
"GENCC_000110-HGNC_20997-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:20997"	"ZMYND15"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20997"	"ZMYND15"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24431330[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22822"	"2021-09-14"
"GENCC_000110-HGNC_29932-Orphanet_397725-HP_0000007-GENCC_100009"	"HGNC:29932"	"COASY"	"MONDO:0014290"	"neurodegeneration with brain iron accumulation 6"	"Orphanet:397725"	"Orphanet:397725"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29932"	"COASY"	"Orphanet:397725"	"COASY protein-associated neurodegeneration"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24360804[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22823"	"2021-09-14"
"GENCC_000110-HGNC_5960-Orphanet_397787-HP_0000007-GENCC_100009"	"HGNC:5960"	"IKBKB"	"MONDO:0014267"	"severe combined immunodeficiency due to IKK2 deficiency"	"Orphanet:397787"	"Orphanet:397787"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5960"	"IKBKB"	"Orphanet:397787"	"Severe combined immunodeficiency due to IKK2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24369075[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22826"	"2021-09-14"
"GENCC_000110-HGNC_11536-Orphanet_397951-HP_0000007-GENCC_100009"	"HGNC:11536"	"TAF2"	"MONDO:0014273"	"microcephaly-thin corpus callosum-intellectual disability syndrome"	"Orphanet:397951"	"Orphanet:397951"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11536"	"TAF2"	"Orphanet:397951"	"Microcephaly-thin corpus callosum-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24084144[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22847"	"2021-09-14"
"GENCC_000110-HGNC_12029-Orphanet_397959-HP_0000007-GENCC_100009"	"HGNC:12029"	"TRAC"	"MONDO:0014160"	"TCR-alpha-beta-positive T-cell deficiency"	"Orphanet:397959"	"Orphanet:397959"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12029"	"TRAC"	"Orphanet:397959"	"TCR-alpha-beta-positive T-cell deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21206088[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22849"	"2021-09-14"
"GENCC_000110-HGNC_15974-Orphanet_397968-HP_0000007-GENCC_100009"	"HGNC:15974"	"TRIM2"	"MONDO:0014208"	"Charcot-Marie-Tooth disease type 2R"	"Orphanet:397968"	"Orphanet:397968"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15974"	"TRIM2"	"Orphanet:397968"	"Charcot-Marie-Tooth disease type 2R"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23562820[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22853"	"2021-09-14"
"GENCC_000110-HGNC_33862-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:33862"	"GRXCR2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33862"	"GRXCR2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24619944[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22880"	"2021-09-14"
"GENCC_000110-HGNC_3420-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:3420"	"EPS8"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3420"	"EPS8"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24741995[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22881"	"2021-09-14"
"GENCC_000110-HGNC_6005-Orphanet_477661-HP_0000007-GENCC_100009"	"HGNC:6005"	"IL21"	"MONDO:0014338"	"IL21-related infantile inflammatory bowel disease"	"Orphanet:477661"	"Orphanet:477661"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6005"	"IL21"	"Orphanet:477661"	"IL21-related infantile inflammatory bowel disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19890111[PMID]_24746753[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22882"	"2021-09-14"
"GENCC_000110-HGNC_18666-Orphanet_231662-HP_0000007-GENCC_100009"	"HGNC:18666"	"RNPC3"	"MONDO:0009876"	"isolated growth hormone deficiency type IA"	"Orphanet:231662"	"Orphanet:231662"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18666"	"RNPC3"	"Orphanet:231662"	"Isolated growth hormone deficiency type IA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24480542[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22883"	"2021-09-14"
"GENCC_000110-HGNC_18873-Orphanet_51-HP_0000006-GENCC_100009"	"HGNC:18873"	"IFIH1"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"Orphanet:51"	"Orphanet:51"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18873"	"IFIH1"	"Orphanet:51"	"Aicardi-GoutiÞres syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24686847[PMID]_24995871[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22885"	"2021-09-14"
"GENCC_000110-HGNC_18873-Orphanet_85191-HP_0000006-GENCC_100009"	"HGNC:18873"	"IFIH1"	"MONDO:0008429"	"Singleton-Merten dysplasia"	"Orphanet:85191"	"Orphanet:85191"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18873"	"IFIH1"	"Orphanet:85191"	"Singleton-Merten dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25620204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22885"	"2021-09-14"
"GENCC_000110-HGNC_18971-Orphanet_163927-HP_0000006-GENCC_100009"	"HGNC:18971"	"AP1S3"	"MONDO:0015597"	"pustulosis palmaris et plantaris"	"Orphanet:163927"	"Orphanet:163927"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18971"	"AP1S3"	"Orphanet:163927"	"Pustulosis palmaris et plantaris"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24791904[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22886"	"2021-09-14"
"GENCC_000110-HGNC_18971-Orphanet_163931-HP_0000007-GENCC_100009"	"HGNC:18971"	"AP1S3"	"MONDO:0013626"	"psoriasis 14, pustular"	"Orphanet:163931"	"Orphanet:163931"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18971"	"AP1S3"	"Orphanet:163931"	"Acrodermatitis continua of Hallopeau"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24791904[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22886"	"2021-09-14"
"GENCC_000110-HGNC_18971-Orphanet_247353-HP_0000007-GENCC_100009"	"HGNC:18971"	"AP1S3"	"MONDO:0013626"	"psoriasis 14, pustular"	"Orphanet:247353"	"Orphanet:247353"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18971"	"AP1S3"	"Orphanet:247353"	"Generalized pustular psoriasis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24791904[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22886"	"2021-09-14"
"GENCC_000110-HGNC_3334-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:3334"	"EMP2"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3334"	"EMP2"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24814193[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22890"	"2021-09-14"
"GENCC_000110-HGNC_17349-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:17349"	"PRPF4"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17349"	"PRPF4"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24419317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22891"	"2021-09-14"
"GENCC_000110-HGNC_26922-Orphanet_401764-HP_0000007-GENCC_100009"	"HGNC:26922"	"ERCC6L2"	"MONDO:0014317"	"pancytopenia-developmental delay syndrome"	"Orphanet:401764"	"Orphanet:401764"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26922"	"ERCC6L2"	"Orphanet:401764"	"Pancytopenia-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24507776[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22893"	"2021-09-14"
"GENCC_000110-HGNC_1530-Orphanet_401768-HP_0000007-GENCC_100009"	"HGNC:1530"	"MICU1"	"MONDO:0014300"	"proximal myopathy with extrapyramidal signs"	"Orphanet:401768"	"Orphanet:401768"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1530"	"MICU1"	"Orphanet:401768"	"Proximal myopathy with extrapyramidal signs"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24336167[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22894"	"2021-09-14"
"GENCC_000110-HGNC_7975-Orphanet_401777-HP_0000006-GENCC_100009"	"HGNC:7975"	"NR2F1"	"MONDO:0014320"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"Orphanet:401777"	"Orphanet:401777"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7975"	"NR2F1"	"Orphanet:401777"	"Optic atrophy-intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24462372[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22895"	"2021-09-14"
"GENCC_000110-HGNC_697-Orphanet_401780-HP_0000007-GENCC_100009"	"HGNC:697"	"ARL6IP1"	"MONDO:0014304"	"hereditary spastic paraplegia 61"	"Orphanet:401780"	"Orphanet:401780"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:697"	"ARL6IP1"	"Orphanet:401780"	"Autosomal recessive spastic paraplegia type 61"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22896"	"2021-09-14"
"GENCC_000110-HGNC_16947-Orphanet_401785-HP_0000007-GENCC_100009"	"HGNC:16947"	"ERLIN1"	"MONDO:0014302"	"hereditary spastic paraplegia 62"	"Orphanet:401785"	"Orphanet:401785"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16947"	"ERLIN1"	"Orphanet:401785"	"Autosomal recessive spastic paraplegia type 62"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22897"	"2021-09-14"
"GENCC_000110-HGNC_12631-Orphanet_401795-HP_0000007-GENCC_100009"	"HGNC:12631"	"USP8"	"MONDO:0018416"	"autosomal recessive spastic paraplegia type 59"	"Orphanet:401795"	"Orphanet:401795"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12631"	"USP8"	"Orphanet:401795"	"Autosomal recessive spastic paraplegia type 59"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22898"	"2021-09-14"
"GENCC_000110-HGNC_30914-Orphanet_401800-HP_0000007-GENCC_100009"	"HGNC:30914"	"WDR48"	"MONDO:0018417"	"autosomal recessive spastic paraplegia type 60"	"Orphanet:401800"	"Orphanet:401800"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30914"	"WDR48"	"Orphanet:401800"	"Autosomal recessive spastic paraplegia type 60"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22899"	"2021-09-14"
"GENCC_000110-HGNC_3363-Orphanet_401810-HP_0000007-GENCC_100009"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"Orphanet:401810"	"Orphanet:401810"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3363"	"ENTPD1"	"Orphanet:401810"	"Autosomal recessive spastic paraplegia type 64"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22900"	"2021-09-14"
"GENCC_000110-HGNC_32521-Orphanet_401815-HP_0000007-GENCC_100009"	"HGNC:32521"	"ARSI"	"MONDO:0018418"	"autosomal recessive spastic paraplegia type 66"	"Orphanet:401815"	"Orphanet:401815"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:32521"	"ARSI"	"Orphanet:401815"	"Autosomal recessive spastic paraplegia type 66"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22901"	"2021-09-14"
"GENCC_000110-HGNC_25712-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:25712"	"PGAP1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25712"	"PGAP1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24784135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22902"	"2021-09-14"
"GENCC_000110-HGNC_25712-Orphanet_401820-HP_0000007-GENCC_100009"	"HGNC:25712"	"PGAP1"	"MONDO:0018419"	"autosomal recessive spastic paraplegia type 67"	"Orphanet:401820"	"Orphanet:401820"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25712"	"PGAP1"	"Orphanet:401820"	"Autosomal recessive spastic paraplegia type 67"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22902"	"2021-09-14"
"GENCC_000110-HGNC_3760-Orphanet_320406-HP_0000007-GENCC_100009"	"HGNC:3760"	"FLRT1"	"MONDO:0012297"	"spastic paraplegia, optic atropy, and neuropathy"	"Orphanet:320406"	"Orphanet:320406"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3760"	"FLRT1"	"Orphanet:320406"	"Spastic paraplegia-optic atrophy-neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22903"	"2021-09-14"
"GENCC_000110-HGNC_17277-Orphanet_401840-HP_0000007-GENCC_100009"	"HGNC:17277"	"ZFR"	"MONDO:0018423"	"autosomal recessive spastic paraplegia type 71"	"Orphanet:401840"	"Orphanet:401840"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17277"	"ZFR"	"Orphanet:401840"	"Autosomal recessive spastic paraplegia type 71"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22904"	"2021-09-14"
"GENCC_000110-HGNC_17975-Orphanet_401849-HP_0000006-GENCC_100009"	"HGNC:17975"	"REEP2"	"MONDO:0014282"	"hereditary spastic paraplegia 72"	"Orphanet:401849"	"Orphanet:401849"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17975"	"REEP2"	"Orphanet:401849"	"Autosomal spastic paraplegia type 72"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24388663[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22905"	"2021-09-14"
"GENCC_000110-HGNC_18576-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:18576"	"CCNO"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18576"	"CCNO"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24747639[PMID]_24824133[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22906"	"2021-09-14"
"GENCC_000110-HGNC_8011-Orphanet_2680-HP_0000007-GENCC_100009"	"HGNC:8011"	"CNTNAP1"	"MONDO:0017049"	"hypomyelination neuropathy-arthrogryposis syndrome"	"Orphanet:2680"	"Orphanet:2680"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8011"	"CNTNAP1"	"Orphanet:2680"	"Hypomyelination neuropathy-arthrogryposis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24319099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22907"	"2021-09-14"
"GENCC_000110-HGNC_237-Orphanet_2680-HP_0000007-GENCC_100009"	"HGNC:237"	"ADCY6"	"MONDO:0017049"	"hypomyelination neuropathy-arthrogryposis syndrome"	"Orphanet:2680"	"Orphanet:2680"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:237"	"ADCY6"	"Orphanet:2680"	"Hypomyelination neuropathy-arthrogryposis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24319099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22908"	"2021-09-14"
"GENCC_000110-HGNC_2188-Orphanet_610-HP_0000006-GENCC_100009"	"HGNC:2188"	"COL12A1"	"MONDO:0008029"	"Bethlem myopathy"	"Orphanet:610"	"Orphanet:610"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2188"	"COL12A1"	"Orphanet:610"	"Bethlem myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24334769[PMID]_24334604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22909"	"2021-09-14"
"GENCC_000110-HGNC_2188-Orphanet_75840-HP_0000006-GENCC_100009"	"HGNC:2188"	"COL12A1"	"MONDO:0000355"	"Ullrich congenital muscular dystrophy"	"Orphanet:75840"	"Orphanet:75840"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2188"	"COL12A1"	"Orphanet:75840"	"Congenital muscular dystrophy, Ullrich type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24334604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22909"	"2021-09-14"
"GENCC_000110-HGNC_2188-Orphanet_536516-HP_0000006-GENCC_100009"	"HGNC:2188"	"COL12A1"	"MONDO:0034022"	"Bethlem myopathy 2"	"Orphanet:536516"	"Orphanet:536516"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2188"	"COL12A1"	"Orphanet:536516"	"Myopathic Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28306229[PMID]_28306225[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22909"	"2021-09-14"
"GENCC_000110-HGNC_16429-Orphanet_401859-HP_0000007-GENCC_100009"	"HGNC:16429"	"LIAS"	"MONDO:0013762"	"lipoic acid synthetase deficiency"	"Orphanet:401859"	"Orphanet:401859"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16429"	"LIAS"	"Orphanet:401859"	"Lipoic acid synthetase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24334290[PMID]_24777537[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22911"	"2021-09-14"
"GENCC_000110-HGNC_4685-Orphanet_401945-HP_0000007-GENCC_100009"	"HGNC:4685"	"GUCY1A1"	"MONDO:0014331"	"Moyamoya disease with early-onset achalasia"	"Orphanet:401945"	"Orphanet:401945"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4685"	"GUCY1A1"	"Orphanet:401945"	"Moyamoya disease with early-onset achalasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24581742[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22914"	"2021-09-14"
"GENCC_000110-HGNC_1377-Orphanet_401948-HP_0000007-GENCC_100009"	"HGNC:1377"	"CA5A"	"MONDO:0014332"	"hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	"Orphanet:401948"	"Orphanet:401948"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1377"	"CA5A"	"Orphanet:401948"	"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24530203[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22915"	"2021-09-14"
"GENCC_000110-HGNC_21839-Orphanet_401959-HP_0000007-GENCC_100009"	"HGNC:21839"	"KPNA7"	"MONDO:0018430"	"partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"	"Orphanet:401959"	"Orphanet:401959"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21839"	"KPNA7"	"Orphanet:401959"	"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24045845[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22916"	"2021-09-14"
"GENCC_000110-HGNC_24891-Orphanet_401964-HP_0000006-GENCC_100009"	"HGNC:24891"	"DCAF8"	"MONDO:0012411"	"giant axonal neuropathy 2"	"Orphanet:401964"	"Orphanet:401964"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24891"	"DCAF8"	"Orphanet:401964"	"Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24500646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22917"	"2021-09-14"
"GENCC_000110-HGNC_14135-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:14135"	"PIGQ"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14135"	"PIGQ"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24463883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22946"	"2021-09-14"
"GENCC_000110-HGNC_232-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:232"	"ADCY1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:232"	"ADCY1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24482543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22947"	"2021-09-14"
"GENCC_000110-HGNC_18626-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:18626"	"IFT27"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18626"	"IFT27"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24488770[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22948"	"2021-09-14"
"GENCC_000110-HGNC_29679-Orphanet_401979-HP_0000007-GENCC_100009"	"HGNC:29679"	"PAM16"	"MONDO:0013223"	"autosomal recessive spondylometaphyseal dysplasia, Megarbane type"	"Orphanet:401979"	"Orphanet:401979"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29679"	"PAM16"	"Orphanet:401979"	"Autosomal recessive spondylometaphyseal dysplasia, MÚgarbanÚ type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24786642[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22949"	"2021-09-14"
"GENCC_000110-HGNC_18270-Orphanet_1422-HP_0000007-GENCC_100009"	"HGNC:18270"	"HHAT"	"MONDO:0010814"	"chondrodysplasia-pseudohermaphroditism syndrome"	"Orphanet:1422"	"Orphanet:1422"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18270"	"HHAT"	"Orphanet:1422"	"Chondrodysplasia-disorder of sex development syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24784881[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22950"	"2021-09-14"
"GENCC_000110-HGNC_35-Orphanet_2026-HP_0000006-GENCC_100009"	"HGNC:35"	"ABCA5"	"MONDO:0007610"	"gingival fibromatosis-hypertrichosis syndrome"	"Orphanet:2026"	"Orphanet:2026"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:35"	"ABCA5"	"Orphanet:2026"	"Gingival fibromatosis-hypertrichosis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24831815[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22951"	"2021-09-14"
"GENCC_000110-HGNC_17966-Orphanet_93591-HP_0000007-GENCC_100009"	"HGNC:17966"	"CEP83"	"MONDO:0011190"	"nephronophthisis 2"	"Orphanet:93591"	"Orphanet:93591"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17966"	"CEP83"	"Orphanet:93591"	"Infantile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24882706[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22952"	"2021-09-14"
"GENCC_000110-HGNC_26988-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:26988"	"METTL23"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26988"	"METTL23"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24626631[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22954"	"2021-09-14"
"GENCC_000110-HGNC_14304-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:14304"	"UNC45B"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14304"	"UNC45B"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24549050[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22955"	"2021-09-14"
"GENCC_000110-HGNC_14304-Orphanet_441447-HP_0000006-GENCC_100009"	"HGNC:14304"	"UNC45B"	"MONDO:0018610"	"early-onset posterior subcapsular cataract"	"Orphanet:441447"	"Orphanet:441447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14304"	"UNC45B"	"Orphanet:441447"	"Early-onset posterior subcapsular cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24549050[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22955"	"2021-09-14"
"GENCC_000110-HGNC_11191-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:11191"	"SOX11"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11191"	"SOX11"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24886874[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22956"	"2021-09-14"
"GENCC_000110-HGNC_15766-Orphanet_404448-HP_0000005-GENCC_100009"	"HGNC:15766"	"ADNP"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"Orphanet:404448"	"Orphanet:404448"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:15766"	"ADNP"	"Orphanet:404448"	"ADNP syndrome"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24531329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22957"	"2021-09-14"
"GENCC_000110-HGNC_2978-Orphanet_404443-HP_0000006-GENCC_100009"	"HGNC:2978"	"DNMT3A"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"Orphanet:404443"	"Orphanet:404443"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2978"	"DNMT3A"	"Orphanet:404443"	"Tatton-Brown-Rahman syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24614070[PMID]_27701732[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22958"	"2021-09-14"
"GENCC_000110-HGNC_10461-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:10461"	"CLIP1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10461"	"CLIP1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24569606[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22959"	"2021-09-14"
"GENCC_000110-HGNC_29043-Orphanet_93100-HP_0000006-GENCC_100009"	"HGNC:29043"	"DSTYK"	"MONDO:0019636"	"renal agenesis, unilateral"	"Orphanet:93100"	"Orphanet:93100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29043"	"DSTYK"	"Orphanet:93100"	"Renal agenesis, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23862974[PMID]_17273976[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22961"	"2021-09-14"
"GENCC_000110-HGNC_29043-Orphanet_101003-HP_0000007-GENCC_100009"	"HGNC:29043"	"DSTYK"	"MONDO:0010046"	"hereditary spastic paraplegia 23"	"Orphanet:101003"	"Orphanet:101003"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29043"	"DSTYK"	"Orphanet:101003"	"Autosomal recessive spastic paraplegia type 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28157540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22961"	"2021-09-14"
"GENCC_000110-HGNC_11438-Orphanet_2290-HP_0000007-GENCC_100009"	"HGNC:11438"	"STX3"	"MONDO:0009635"	"microvillus inclusion disease"	"Orphanet:2290"	"Orphanet:2290"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11438"	"STX3"	"Orphanet:2290"	"Microvillus inclusion disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24726755[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22962"	"2021-09-14"
"GENCC_000110-HGNC_4556-Orphanet_93317-HP_0000007-GENCC_100009"	"HGNC:4556"	"GPX4"	"MONDO:0009593"	"spondylometaphyseal dysplasia, Sedaghatian type"	"Orphanet:93317"	"Orphanet:93317"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4556"	"GPX4"	"Orphanet:93317"	"Spondylometaphyseal dysplasia, Sedaghatian type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24706940[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22963"	"2021-09-14"
"GENCC_000110-HGNC_13517-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:13517"	"CLIC5"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13517"	"CLIC5"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24781754[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22964"	"2021-09-14"
"GENCC_000110-HGNC_10419-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10419"	"RPS29"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10419"	"RPS29"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24829207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22967"	"2021-09-14"
"GENCC_000110-HGNC_15559-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:15559"	"CHCHD10"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15559"	"CHCHD10"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25113787[PMID]_25261972[PMID]_25113788[PMID]_25261971[PMID]_25348631[PMID]_25348633[PMID]_25155093[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22968"	"2021-09-14"
"GENCC_000110-HGNC_15559-Orphanet_275872-HP_0000006-GENCC_100009"	"HGNC:15559"	"CHCHD10"	"MONDO:0017161"	"frontotemporal dementia with motor neuron disease"	"Orphanet:275872"	"Orphanet:275872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15559"	"CHCHD10"	"Orphanet:275872"	"Frontotemporal dementia with motor neuron disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24934289[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22968"	"2021-09-14"
"GENCC_000110-HGNC_15559-Orphanet_276435-HP_0000006-GENCC_100009"	"HGNC:15559"	"CHCHD10"	"MONDO:0014025"	"lower motor neuron syndrome with late-adult onset"	"Orphanet:276435"	"Orphanet:276435"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15559"	"CHCHD10"	"Orphanet:276435"	"Lower motor neuron syndrome with late-adult onset"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25428574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22968"	"2021-09-14"
"GENCC_000110-HGNC_15559-Orphanet_457050-HP_0000006-GENCC_100009"	"HGNC:15559"	"CHCHD10"	"MONDO:0014532"	"autosomal dominant mitochondrial myopathy with exercise intolerance"	"Orphanet:457050"	"Orphanet:457050"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15559"	"CHCHD10"	"Orphanet:457050"	"Autosomal dominant mitochondrial myopathy with exercise intolerance"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25193783[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22968"	"2021-09-14"
"GENCC_000110-HGNC_9751-Orphanet_404437-HP_0000007-GENCC_100009"	"HGNC:9751"	"QARS1"	"MONDO:0014335"	"diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome"	"Orphanet:404437"	"Orphanet:404437"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9751"	"QARS1"	"Orphanet:404437"	"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24656866[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22969"	"2021-09-14"
"GENCC_000110-HGNC_9751-Orphanet_423306-HP_0000007-GENCC_100009"	"HGNC:9751"	"QARS1"	"MONDO:0018494"	"microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"	"Orphanet:423306"	"Orphanet:423306"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9751"	"QARS1"	"Orphanet:423306"	"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28620870[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22969"	"2021-09-14"
"GENCC_000110-HGNC_25566-Orphanet_404440-HP_0000006-GENCC_100009"	"HGNC:25566"	"SETD5"	"MONDO:0014336"	"intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"	"Orphanet:404440"	"Orphanet:404440"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25566"	"SETD5"	"Orphanet:404440"	"Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24680889[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22970"	"2021-09-14"
"GENCC_000110-HGNC_17646-Orphanet_404454-HP_0000007-GENCC_100009"	"HGNC:17646"	"NGLY1"	"MONDO:0014109"	"NGLY1-deficiency"	"Orphanet:404454"	"Orphanet:404454"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17646"	"NGLY1"	"Orphanet:404454"	"Alacrimia-choreoathetosis-liver dysfunction syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24651605[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22971"	"2021-09-14"
"GENCC_000110-HGNC_13187-Orphanet_404466-HP_0000006-GENCC_100009"	"HGNC:13187"	"ZP1"	"MONDO:0014342"	"female infertility due to zona pellucida defect"	"Orphanet:404466"	"Orphanet:404466"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13187"	"ZP1"	"Orphanet:404466"	"Female infertility due to zona pellucida defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24670168[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22972"	"2021-09-14"
"GENCC_000110-HGNC_17768-Orphanet_404493-HP_0000007-GENCC_100009"	"HGNC:17768"	"TDP2"	"MONDO:0014846"	"spinocerebellar ataxia, autosomal recessive 23"	"Orphanet:404493"	"Orphanet:404493"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17768"	"TDP2"	"Orphanet:404493"	"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24658003[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22973"	"2021-09-14"
"GENCC_000110-HGNC_28991-Orphanet_404499-HP_0000007-GENCC_100009"	"HGNC:28991"	"RUBCN"	"MONDO:0014311"	"autosomal recessive spinocerebellar ataxia 15"	"Orphanet:404499"	"Orphanet:404499"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28991"	"RUBCN"	"Orphanet:404499"	"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23728897[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22974"	"2021-09-14"
"GENCC_000110-HGNC_25726-Orphanet_3459-HP_0001417-GENCC_100009"	"HGNC:25726"	"LAS1L"	"MONDO:0010665"	"Wilson-Turner syndrome"	"Orphanet:3459"	"Orphanet:3459"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:25726"	"LAS1L"	"Orphanet:3459"	"Wilson-Turner syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25644381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22975"	"2021-09-14"
"GENCC_000110-HGNC_25726-Orphanet_404521-HP_0000005-GENCC_100009"	"HGNC:25726"	"LAS1L"	"MONDO:0018450"	"spinal muscular atrophy with respiratory distress type 2"	"Orphanet:404521"	"Orphanet:404521"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:25726"	"LAS1L"	"Orphanet:404521"	"Spinal muscular atrophy with respiratory distress type 2"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24647030[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22975"	"2021-09-14"
"GENCC_000110-HGNC_2375-Orphanet_402364-HP_0000007-GENCC_100009"	"HGNC:2375"	"MED17"	"MONDO:0013351"	"infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"	"Orphanet:402364"	"Orphanet:402364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2375"	"MED17"	"Orphanet:402364"	"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20950787[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22977"	"2021-09-14"
"GENCC_000110-HGNC_7597-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:7597"	"MYO1C"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7597"	"MYO1C"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19027848[PMID]_24148127[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22978"	"2021-09-14"
"GENCC_000110-HGNC_14468-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:14468"	"SLC26A8"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14468"	"SLC26A8"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23582645[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22979"	"2021-09-14"
"GENCC_000110-HGNC_26348-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:26348"	"SEPTIN12"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26348"	"SEPTIN12"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22275165[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22980"	"2021-09-14"
"GENCC_000110-HGNC_2940-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:2940"	"DNAH1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2940"	"DNAH1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25927852[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22981"	"2021-09-14"
"GENCC_000110-HGNC_2940-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:2940"	"DNAH1"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2940"	"DNAH1"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24360805[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22981"	"2021-09-14"
"GENCC_000110-HGNC_16643-Orphanet_130-HP_0000006-GENCC_100009"	"HGNC:16643"	"SLMAP"	"MONDO:0015263"	"Brugada syndrome"	"Orphanet:130"	"Orphanet:130"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16643"	"SLMAP"	"Orphanet:130"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20301690[PMID]_23064965[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22982"	"2021-09-14"
"GENCC_000110-HGNC_2395-Orphanet_98988-HP_0000006-GENCC_100009"	"HGNC:2395"	"CRYBA2"	"MONDO:0020373"	"early-onset anterior polar cataract"	"Orphanet:98988"	"Orphanet:98988"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2395"	"CRYBA2"	"Orphanet:98988"	"Early-onset anterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23508780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22984"	"2021-09-14"
"GENCC_000110-HGNC_2395-Orphanet_98991-HP_0000006-GENCC_100009"	"HGNC:2395"	"CRYBA2"	"MONDO:0020376"	"early-onset nuclear cataract"	"Orphanet:98991"	"Orphanet:98991"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2395"	"CRYBA2"	"Orphanet:98991"	"Early-onset nuclear cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23508780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22984"	"2021-09-14"
"GENCC_000110-HGNC_854-Orphanet_3473-HP_0000007-GENCC_100009"	"HGNC:854"	"ATP6V1B2"	"MONDO:0000200"	"Zimmermann-Laband syndrome"	"Orphanet:3473"	"Orphanet:3473"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:854"	"ATP6V1B2"	"Orphanet:3473"	"Zimmermann-Laband syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25915598[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22990"	"2021-09-14"
"GENCC_000110-HGNC_854-Orphanet_79499-HP_0000006-GENCC_100009"	"HGNC:854"	"ATP6V1B2"	"MONDO:0007420"	"autosomal dominant deafness - onychodystrophy syndrome"	"Orphanet:79499"	"Orphanet:79499"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:854"	"ATP6V1B2"	"Orphanet:79499"	"Autosomal dominant deafness-onychodystrophy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24913193[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22990"	"2021-09-14"
"GENCC_000110-HGNC_854-Orphanet_79500-HP_0000007-GENCC_100009"	"HGNC:854"	"ATP6V1B2"	"MONDO:0009079"	"DOORS syndrome"	"Orphanet:79500"	"Orphanet:79500"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:854"	"ATP6V1B2"	"Orphanet:79500"	"DOORS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32873933[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22990"	"2021-09-14"
"GENCC_000110-HGNC_30836-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:30836"	"POC1B"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30836"	"POC1B"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25018096[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22991"	"2021-09-14"
"GENCC_000110-HGNC_5037-Orphanet_55596-HP_0000006-GENCC_100009"	"HGNC:5037"	"HNRNPDL"	"MONDO:0012193"	"autosomal dominant limb-girdle muscular dystrophy type 1G"	"Orphanet:55596"	"Orphanet:55596"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5037"	"HNRNPDL"	"Orphanet:55596"	"HNRNPDL-related limb-girdle muscular dystrophy D3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24647604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22992"	"2021-09-14"
"GENCC_000110-HGNC_13872-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:13872"	"RIPOR2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13872"	"RIPOR2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24958875[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22993"	"2021-09-14"
"GENCC_000110-HGNC_28909-Orphanet_7-HP_0000007-GENCC_100009"	"HGNC:28909"	"CCDC22"	"MONDO:0019078"	"Ritscher-Schinzel syndrome"	"Orphanet:7"	"Orphanet:7"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28909"	"CCDC22"	"Orphanet:7"	"3C syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24916641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22996"	"2021-09-14"
"GENCC_000110-HGNC_23336-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:23336"	"A2ML1"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23336"	"A2ML1"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24939586[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22997"	"2021-09-14"
"GENCC_000110-HGNC_16901-Orphanet_169186-HP_0000007-GENCC_100009"	"HGNC:16901"	"SPEG"	"MONDO:0015705"	"autosomal recessive centronuclear myopathy"	"Orphanet:169186"	"Orphanet:169186"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16901"	"SPEG"	"Orphanet:169186"	"Autosomal recessive centronuclear myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25087613[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"22999"	"2021-09-14"
"GENCC_000110-HGNC_6481-Orphanet_370022-HP_0000007-GENCC_100009"	"HGNC:6481"	"LAMA1"	"MONDO:0014419"	"ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"	"Orphanet:370022"	"Orphanet:370022"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6481"	"LAMA1"	"Orphanet:370022"	"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25105227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23001"	"2021-09-14"
"GENCC_000110-HGNC_24529-Orphanet_35612-HP_0000006-GENCC_100009"	"HGNC:24529"	"TMEM98"	"MONDO:0005514"	"nanophthalmia"	"Orphanet:35612"	"Orphanet:35612"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24529"	"TMEM98"	"Orphanet:35612"	"Nanophthalmos"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24852644[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23002"	"2021-09-14"
"GENCC_000110-HGNC_29316-Orphanet_1827-HP_0000006-GENCC_100009"	"HGNC:29316"	"ZSWIM6"	"MONDO:0011359"	"acromelic frontonasal dysostosis"	"Orphanet:1827"	"Orphanet:1827"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29316"	"ZSWIM6"	"Orphanet:1827"	"Acromelic frontonasal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25105228[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23003"	"2021-09-14"
"GENCC_000110-HGNC_16510-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:16510"	"FBXO31"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16510"	"FBXO31"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24623383[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23004"	"2021-09-14"
"GENCC_000110-HGNC_22788-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:22788"	"FEZF1"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:22788"	"FEZF1"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25192046[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23006"	"2021-09-14"
"GENCC_000110-HGNC_14082-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:14082"	"ANLN"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14082"	"ANLN"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24676636[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23007"	"2021-09-14"
"GENCC_000110-HGNC_28303-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:28303"	"ODAD3"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28303"	"ODAD3"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25192045[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23009"	"2021-09-14"
"GENCC_000110-HGNC_9872-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:9872"	"RASA2"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9872"	"RASA2"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25049390[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23010"	"2021-09-14"
"GENCC_000110-HGNC_11153-Orphanet_1393-HP_0000006-GENCC_100009"	"HGNC:11153"	"SNRPB"	"MONDO:0007301"	"cerebrocostomandibular syndrome"	"Orphanet:1393"	"Orphanet:1393"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11153"	"SNRPB"	"Orphanet:1393"	"Cerebrocostomandibular syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25047197[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23011"	"2021-09-14"
"GENCC_000110-HGNC_3683-Orphanet_411788-HP_0000007-GENCC_100009"	"HGNC:3683"	"FGF5"	"MONDO:0018472"	"familial isolated trichomegaly"	"Orphanet:411788"	"Orphanet:411788"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3683"	"FGF5"	"Orphanet:411788"	"Familial isolated trichomegaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24989505[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23035"	"2021-09-14"
"GENCC_000110-HGNC_452-Orphanet_100031-HP_0000006-GENCC_100009"	"HGNC:452"	"AMBN"	"MONDO:0015047"	"amelogenesis imperfecta type 1"	"Orphanet:100031"	"Orphanet:100031"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:452"	"AMBN"	"Orphanet:100031"	"Hypoplastic amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24858907[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23051"	"2021-09-14"
"GENCC_000110-HGNC_25186-Orphanet_98773-HP_0000006-GENCC_100009"	"HGNC:25186"	"TMEM240"	"MONDO:0011833"	"spinocerebellar ataxia type 21"	"Orphanet:98773"	"Orphanet:98773"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25186"	"TMEM240"	"Orphanet:98773"	"Spinocerebellar ataxia type 21"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25070513[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23052"	"2021-09-14"
"GENCC_000110-HGNC_18420-Orphanet_821-HP_0000006-GENCC_100009"	"HGNC:18420"	"SETD2"	"MONDO:0019349"	"Sotos syndrome"	"Orphanet:821"	"Orphanet:821"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18420"	"SETD2"	"Orphanet:821"	"Sotos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24852293[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23053"	"2021-09-14"
"GENCC_000110-HGNC_25455-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:25455"	"TSR2"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25455"	"TSR2"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24942156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23054"	"2021-09-14"
"GENCC_000110-HGNC_10418-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10418"	"RPS28"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10418"	"RPS28"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24942156[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23055"	"2021-09-14"
"GENCC_000110-HGNC_1512-Orphanet_2593-HP_0000006-GENCC_100009"	"HGNC:1512"	"CASQ1"	"MONDO:0008051"	"tubular aggregate myopathy"	"Orphanet:2593"	"Orphanet:2593"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1512"	"CASQ1"	"Orphanet:2593"	"Tubular aggregate myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28895244[PMID]_29039140[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23056"	"2021-09-14"
"GENCC_000110-HGNC_1512-Orphanet_88635-HP_0000006-GENCC_100009"	"HGNC:1512"	"CASQ1"	"MONDO:0014546"	"myopathy due to calsequestrin and SERCA1 protein overload"	"Orphanet:88635"	"Orphanet:88635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1512"	"CASQ1"	"Orphanet:88635"	"Vacuolar myopathy with sarcoplasmic reticulum protein aggregates"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25116801[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23056"	"2021-09-14"
"GENCC_000110-HGNC_16192-Orphanet_79152-HP_0000006-GENCC_100009"	"HGNC:16192"	"SLC17A9"	"MONDO:0019212"	"disseminated superficial actinic porokeratosis"	"Orphanet:79152"	"Orphanet:79152"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16192"	"SLC17A9"	"Orphanet:79152"	"Disseminated superficial actinic porokeratosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25180256[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23057"	"2021-09-14"
"GENCC_000110-HGNC_17341-Orphanet_369861-HP_0000007-GENCC_100009"	"HGNC:17341"	"TRNT1"	"MONDO:0014487"	"congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	"Orphanet:369861"	"Orphanet:369861"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17341"	"TRNT1"	"Orphanet:369861"	"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25193871[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23058"	"2021-09-14"
"GENCC_000110-HGNC_28852-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:28852"	"SYCE1"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28852"	"SYCE1"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25899990[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23068"	"2021-09-14"
"GENCC_000110-HGNC_4845-Orphanet_36387-HP_0000006-GENCC_100009"	"HGNC:4845"	"HCN1"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"Orphanet:36387"	"Orphanet:36387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4845"	"HCN1"	"Orphanet:36387"	"Generalized epilepsy with febrile seizures-plus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30351409[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23069"	"2021-09-14"
"GENCC_000110-HGNC_4845-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:4845"	"HCN1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4845"	"HCN1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24747641[PMID]_25678871[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23069"	"2021-09-14"
"GENCC_000110-HGNC_23089-Orphanet_3006-HP_0000007-GENCC_100009"	"HGNC:23089"	"SLC13A5"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"Orphanet:3006"	"Orphanet:3006"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23089"	"SLC13A5"	"Orphanet:3006"	"Pyridoxine-dependent epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27912044[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23070"	"2021-09-14"
"GENCC_000110-HGNC_23089-Orphanet_1946-HP_0000007-GENCC_100009"	"HGNC:23089"	"SLC13A5"	"MONDO:0009185"	"amelocerebrohypohidrotic syndrome"	"Orphanet:1946"	"Orphanet:1946"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23089"	"SLC13A5"	"Orphanet:1946"	"Amelocerebrohypohidrotic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27600704[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23070"	"2021-09-14"
"GENCC_000110-HGNC_23089-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:23089"	"SLC13A5"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23089"	"SLC13A5"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24995870[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23070"	"2021-09-14"
"GENCC_000110-HGNC_6231-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:6231"	"KCNB1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6231"	"KCNB1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25164438[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23071"	"2021-09-14"
"GENCC_000110-HGNC_6649-Orphanet_171430-HP_0000007-GENCC_100009"	"HGNC:6649"	"LMOD3"	"MONDO:0015735"	"severe congenital nemaline myopathy"	"Orphanet:171430"	"Orphanet:171430"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6649"	"LMOD3"	"Orphanet:171430"	"Severe congenital nemaline myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25250574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23072"	"2021-09-14"
"GENCC_000110-HGNC_6649-Orphanet_171436-HP_0000006-GENCC_100009"	"HGNC:6649"	"LMOD3"	"MONDO:0015737"	"typical nemaline myopathy"	"Orphanet:171436"	"Orphanet:171436"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6649"	"LMOD3"	"Orphanet:171436"	"Typical nemaline myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25250574[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23072"	"2021-09-14"
"GENCC_000110-HGNC_34399-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:34399"	"UQCC3"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:34399"	"UQCC3"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25008109[PMID]_25914718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23073"	"2021-09-14"
"GENCC_000110-HGNC_7680-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:7680"	"NDST1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7680"	"NDST1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25125150[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23074"	"2021-09-14"
"GENCC_000110-HGNC_10405-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10405"	"RPS20"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10405"	"RPS20"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32790018[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23077"	"2021-09-14"
"GENCC_000110-HGNC_10405-Orphanet_440437-HP_0000006-GENCC_100009"	"HGNC:10405"	"RPS20"	"MONDO:0018604"	"familial colorectal cancer type X"	"Orphanet:440437"	"Orphanet:440437"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10405"	"RPS20"	"Orphanet:440437"	"Familial colorectal cancer Type X"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24941021[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23077"	"2021-09-14"
"GENCC_000110-HGNC_19190-Orphanet_411986-HP_0000007-GENCC_100009"	"HGNC:19190"	"DOCK7"	"MONDO:0014371"	"developmental and epileptic encephalopathy, 23"	"Orphanet:411986"	"Orphanet:411986"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19190"	"DOCK7"	"Orphanet:411986"	"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24814191[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23078"	"2021-09-14"
"GENCC_000110-HGNC_17035-Orphanet_2254-HP_0000007-GENCC_100009"	"HGNC:17035"	"EXOSC8"	"MONDO:0016396"	"pontocerebellar hypoplasia type 1"	"Orphanet:2254"	"Orphanet:2254"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17035"	"EXOSC8"	"Orphanet:2254"	"Pontocerebellar hypoplasia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24989451[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23079"	"2021-09-14"
"GENCC_000110-HGNC_9701-Orphanet_438216-HP_0000006-GENCC_100009"	"HGNC:9701"	"PURA"	"MONDO:0014512"	"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"	"Orphanet:438216"	"Orphanet:438216"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9701"	"PURA"	"Orphanet:438216"	"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25342064[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23085"	"2021-09-14"
"GENCC_000110-HGNC_14977-Orphanet_397709-HP_0000007-GENCC_100009"	"HGNC:14977"	"SNX14"	"MONDO:0014601"	"autosomal recessive spinocerebellar ataxia 20"	"Orphanet:397709"	"Orphanet:397709"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14977"	"SNX14"	"Orphanet:397709"	"Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25439728[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23086"	"2021-09-14"
"GENCC_000110-HGNC_26877-Orphanet_3255-HP_0000007-GENCC_100009"	"HGNC:26877"	"CKAP2L"	"MONDO:0010092"	"Filippi syndrome"	"Orphanet:3255"	"Orphanet:3255"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26877"	"CKAP2L"	"Orphanet:3255"	"Filippi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25439729[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23087"	"2021-09-14"
"GENCC_000110-HGNC_1856-Orphanet_808-HP_0000007-GENCC_100009"	"HGNC:1856"	"CENPE"	"MONDO:0019342"	"Seckel syndrome"	"Orphanet:808"	"Orphanet:808"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1856"	"CENPE"	"Orphanet:808"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24748105[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23091"	"2021-09-14"
"GENCC_000110-HGNC_30551-Orphanet_1200-HP_0000007-GENCC_100009"	"HGNC:30551"	"TXNL4A"	"MONDO:0012064"	"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	"Orphanet:1200"	"Orphanet:1200"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30551"	"TXNL4A"	"Orphanet:1200"	"Burn-McKeown syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25434003[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23092"	"2021-09-14"
"GENCC_000110-HGNC_18539-Orphanet_36387-HP_0000006-GENCC_100009"	"HGNC:18539"	"STX1B"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"Orphanet:36387"	"Orphanet:36387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18539"	"STX1B"	"Orphanet:36387"	"Generalized epilepsy with febrile seizures-plus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25362483[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23093"	"2021-09-14"
"GENCC_000110-HGNC_20324-Orphanet_1388-HP_0000007-GENCC_100009"	"HGNC:20324"	"TGDS"	"MONDO:0014507"	"Catel-Manzke syndrome"	"Orphanet:1388"	"Orphanet:1388"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20324"	"TGDS"	"Orphanet:1388"	"Catel-Manzke syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25480037[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23094"	"2021-09-14"
"GENCC_000110-HGNC_25403-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:25403"	"SASS6"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25403"	"SASS6"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24951542[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23095"	"2021-09-14"
"GENCC_000110-HGNC_5950-Orphanet_451612-HP_0000007-GENCC_100009"	"HGNC:5950"	"IGSF3"	"MONDO:0007871"	"familial congenital nasolacrimal duct obstruction"	"Orphanet:451612"	"Orphanet:451612"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5950"	"IGSF3"	"Orphanet:451612"	"Familial congenital nasolacrimal duct obstruction"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24372406[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23096"	"2021-09-14"
"GENCC_000110-HGNC_25070-Orphanet_3322-HP_0000006-GENCC_100009"	"HGNC:25070"	"ACD"	"MONDO:0018045"	"Hoyeraal-Hreidarsson syndrome"	"Orphanet:3322"	"Orphanet:3322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25070"	"ACD"	"Orphanet:3322"	"Hoyeraal-Hreidarsson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25233904[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23097"	"2021-09-14"
"GENCC_000110-HGNC_25070-Orphanet_397692-HP_0000006-GENCC_100009"	"HGNC:25070"	"ACD"	"MONDO:0018340"	"hereditary isolated aplastic anemia"	"Orphanet:397692"	"Orphanet:397692"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25070"	"ACD"	"Orphanet:397692"	"Hereditary isolated aplastic anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25205116[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23097"	"2021-09-14"
"GENCC_000110-HGNC_6858-Orphanet_26106-HP_0000006-GENCC_100009"	"HGNC:6858"	"MAP3K6"	"MONDO:0007648"	"hereditary diffuse gastric adenocarcinoma"	"Orphanet:26106"	"Orphanet:26106"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6858"	"MAP3K6"	"Orphanet:26106"	"Hereditary diffuse gastric cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25340522[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23098"	"2021-09-14"
"GENCC_000110-HGNC_25928-Orphanet_2065-HP_0000007-GENCC_100009"	"HGNC:25928"	"WDR73"	"MONDO:0009627"	"Galloway-Mowat syndrome"	"Orphanet:2065"	"Orphanet:2065"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25928"	"WDR73"	"Orphanet:2065"	"Galloway-Mowat syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25466283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23099"	"2021-09-14"
"GENCC_000110-HGNC_25928-Orphanet_83472-HP_0000007-GENCC_100009"	"HGNC:25928"	"WDR73"	"MONDO:0019374"	"CAMOS syndrome"	"Orphanet:83472"	"Orphanet:83472"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25928"	"WDR73"	"Orphanet:83472"	"CAMOS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26123727[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23099"	"2021-09-14"
"GENCC_000110-HGNC_14074-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:14074"	"FMN2"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14074"	"FMN2"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25480035[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23100"	"2021-09-14"
"GENCC_000110-HGNC_29673-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:29673"	"MFAP5"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29673"	"MFAP5"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25434006[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23107"	"2021-09-14"
"GENCC_000110-HGNC_9479-Orphanet_1458-HP_0000007-GENCC_100009"	"HGNC:9479"	"LONP1"	"MONDO:0010879"	"CODAS syndrome"	"Orphanet:1458"	"Orphanet:1458"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9479"	"LONP1"	"Orphanet:1458"	"CODAS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25574826[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23127"	"2021-09-14"
"GENCC_000110-HGNC_9479-Orphanet_79243-HP_0001417-GENCC_100009"	"HGNC:9479"	"LONP1"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"Orphanet:79243"	"Orphanet:79243"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9479"	"LONP1"	"Orphanet:79243"	"Pyruvate dehydrogenase E1-alpha deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30304514[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23127"	"2021-09-14"
"GENCC_000110-HGNC_18688-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:18688"	"CRB2"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18688"	"CRB2"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25557779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23131"	"2021-09-14"
"GENCC_000110-HGNC_18688-Orphanet_443988-HP_0000007-GENCC_100009"	"HGNC:18688"	"CRB2"	"MONDO:0009063"	"ventriculomegaly-cystic kidney disease"	"Orphanet:443988"	"Orphanet:443988"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18688"	"CRB2"	"Orphanet:443988"	"Ventriculomegaly-cystic kidney disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25557780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23131"	"2021-09-14"
"GENCC_000110-HGNC_11397-Orphanet_808-HP_0000007-GENCC_100009"	"HGNC:11397"	"PLK4"	"MONDO:0019342"	"Seckel syndrome"	"Orphanet:808"	"Orphanet:808"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11397"	"PLK4"	"Orphanet:808"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25344692[PMID]_25320347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23133"	"2021-09-14"
"GENCC_000110-HGNC_11397-Orphanet_2518-HP_0000007-GENCC_100009"	"HGNC:11397"	"PLK4"	"MONDO:0009624"	"microcephaly and chorioretinopathy 1"	"Orphanet:2518"	"Orphanet:2518"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11397"	"PLK4"	"Orphanet:2518"	"Autosomal recessive chorioretinopathy-microcephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27650967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23133"	"2021-09-14"
"GENCC_000110-HGNC_15761-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:15761"	"OSBPL2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15761"	"OSBPL2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25077649[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23134"	"2021-09-14"
"GENCC_000110-HGNC_18603-Orphanet_91411-HP_0000006-GENCC_100009"	"HGNC:18603"	"COL25A1"	"MONDO:0008340"	"ptosis, hereditary congenital, 1"	"Orphanet:91411"	"Orphanet:91411"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18603"	"COL25A1"	"Orphanet:91411"	"Congenital ptosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26486031[PMID]_25500261[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23139"	"2021-09-14"
"GENCC_000110-HGNC_19102-Orphanet_85191-HP_0000006-GENCC_100009"	"HGNC:19102"	"RIGI"	"MONDO:0008429"	"Singleton-Merten dysplasia"	"Orphanet:85191"	"Orphanet:85191"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19102"	"DDX58"	"Orphanet:85191"	"Singleton-Merten dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25620203[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23141"	"2021-09-14"
"GENCC_000110-HGNC_26690-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:26690"	"CEP120"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26690"	"CEP120"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25361962[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23142"	"2021-09-14"
"GENCC_000110-HGNC_26690-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:26690"	"CEP120"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26690"	"CEP120"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27208211[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23142"	"2021-09-14"
"GENCC_000110-HGNC_26690-Orphanet_220493-HP_0000007-GENCC_100009"	"HGNC:26690"	"CEP120"	"MONDO:0016364"	"Joubert syndrome with ocular defect"	"Orphanet:220493"	"Orphanet:220493"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26690"	"CEP120"	"Orphanet:220493"	"Joubert syndrome with ocular defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27208211[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23142"	"2021-09-14"
"GENCC_000110-HGNC_757-Orphanet_412022-HP_0000007-GENCC_100009"	"HGNC:757"	"ASPH"	"MONDO:0011106"	"facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"	"Orphanet:412022"	"Orphanet:412022"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:757"	"ASPH"	"Orphanet:412022"	"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24768550[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23143"	"2021-09-14"
"GENCC_000110-HGNC_14677-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:14677"	"DEAF1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14677"	"DEAF1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24726472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23144"	"2021-09-14"
"GENCC_000110-HGNC_14677-Orphanet_468620-HP_0000007-GENCC_100009"	"HGNC:14677"	"DEAF1"	"MONDO:0014952"	"intellectual disability-epilepsy-extrapyramidal syndrome"	"Orphanet:468620"	"Orphanet:468620"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14677"	"DEAF1"	"Orphanet:468620"	"Intellectual disability-epilepsy-extrapyramidal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26048982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23144"	"2021-09-14"
"GENCC_000110-HGNC_16999-Orphanet_411493-HP_0000007-GENCC_100009"	"HGNC:16999"	"CLP1"	"MONDO:0014349"	"pontocerebellar hypoplasia type 10"	"Orphanet:411493"	"Orphanet:411493"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16999"	"CLP1"	"Orphanet:411493"	"Pontocerebellar hypoplasia type 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24766809[PMID]_24766810[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23145"	"2021-09-14"
"GENCC_000110-HGNC_9390-Orphanet_412066-HP_0000006-GENCC_100009"	"HGNC:9390"	"PRKAR1B"	"MONDO:0018475"	"PRKAR1B-related neurodegenerative dementia with intermediate filaments"	"Orphanet:412066"	"Orphanet:412066"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9390"	"PRKAR1B"	"Orphanet:412066"	"PRKAR1B-related neurodegenerative dementia with intermediate filaments"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24722252[PMID]_25108559[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23146"	"2021-09-14"
"GENCC_000110-HGNC_25230-Orphanet_412069-HP_0000006-GENCC_100009"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"Orphanet:412069"	"Orphanet:412069"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25230"	"AHDC1"	"Orphanet:412069"	"AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24791903[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23147"	"2021-09-14"
"GENCC_000110-HGNC_30578-Orphanet_412189-HP_0000007-GENCC_100009"	"HGNC:30578"	"EXPH5"	"MONDO:0014014"	"epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"	"Orphanet:412189"	"Orphanet:412189"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30578"	"EXPH5"	"Orphanet:412189"	"Epidermolysis bullosa simplex due to exophilin 5 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23176819[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23150"	"2021-09-14"
"GENCC_000110-HGNC_31399-Orphanet_457212-HP_0000007-GENCC_100009"	"HGNC:31399"	"SLC6A17"	"MONDO:0014559"	"progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"	"Orphanet:457212"	"Orphanet:457212"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:31399"	"SLC6A17"	"Orphanet:457212"	"Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25704603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23156"	"2021-09-14"
"GENCC_000110-HGNC_8548-Orphanet_2050-HP_0000006-GENCC_100009"	"HGNC:8548"	"P4HB"	"MONDO:0016085"	"Cole-Carpenter syndrome"	"Orphanet:2050"	"Orphanet:2050"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8548"	"P4HB"	"Orphanet:2050"	"Cole-Carpenter syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25683117[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23211"	"2021-09-14"
"GENCC_000110-HGNC_8548-Orphanet_216796-HP_0000006-GENCC_100009"	"HGNC:8548"	"P4HB"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"Orphanet:216796"	"Orphanet:216796"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8548"	"P4HB"	"Orphanet:216796"	"Osteogenesis imperfecta type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30913006[PMID]_30948499[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23211"	"2021-09-14"
"GENCC_000110-HGNC_10706-Orphanet_2050-HP_0000006-GENCC_100009"	"HGNC:10706"	"SEC24D"	"MONDO:0016085"	"Cole-Carpenter syndrome"	"Orphanet:2050"	"Orphanet:2050"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10706"	"SEC24D"	"Orphanet:2050"	"Cole-Carpenter syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25683121[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23212"	"2021-09-14"
"GENCC_000110-HGNC_10706-Orphanet_216796-HP_0000006-GENCC_100009"	"HGNC:10706"	"SEC24D"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"Orphanet:216796"	"Orphanet:216796"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10706"	"SEC24D"	"Orphanet:216796"	"Osteogenesis imperfecta type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25683121[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23212"	"2021-09-14"
"GENCC_000110-HGNC_3084-Orphanet_3107-HP_0000006-GENCC_100009"	"HGNC:3084"	"DVL1"	"MONDO:0008389"	"autosomal dominant Robinow syndrome"	"Orphanet:3107"	"Orphanet:3107"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3084"	"DVL1"	"Orphanet:3107"	"Autosomal dominant Robinow syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25817016[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23213"	"2021-09-14"
"GENCC_000110-HGNC_11132-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:11132"	"SNAP25"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11132"	"SNAP25"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25381298[PMID]_25792100[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23214"	"2021-09-14"
"GENCC_000110-HGNC_11142-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:11142"	"SIK1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11142"	"SIK1"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25839329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23215"	"2021-09-14"
"GENCC_000110-HGNC_11142-Orphanet_1935-HP_0000006-GENCC_100009"	"HGNC:11142"	"SIK1"	"MONDO:0016022"	"early myoclonic encephalopathy"	"Orphanet:1935"	"Orphanet:1935"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11142"	"SIK1"	"Orphanet:1935"	"Early myoclonic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25839329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23215"	"2021-09-14"
"GENCC_000110-HGNC_11142-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:11142"	"SIK1"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11142"	"SIK1"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25839329[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23215"	"2021-09-14"
"GENCC_000110-HGNC_5144-Orphanet_99657-HP_0000007-GENCC_100009"	"HGNC:5144"	"HPCA"	"MONDO:0009141"	"torsion dystonia 2"	"Orphanet:99657"	"Orphanet:99657"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5144"	"HPCA"	"Orphanet:99657"	"Primary dystonia, DYT2 type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25799108[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23216"	"2021-09-14"
"GENCC_000110-HGNC_16691-Orphanet_2518-HP_0000007-GENCC_100009"	"HGNC:16691"	"TUBGCP4"	"MONDO:0009624"	"microcephaly and chorioretinopathy 1"	"Orphanet:2518"	"Orphanet:2518"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16691"	"TUBGCP4"	"Orphanet:2518"	"Autosomal recessive chorioretinopathy-microcephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25817018[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23217"	"2021-09-14"
"GENCC_000110-HGNC_23694-Orphanet_95496-HP_0000006-GENCC_100009"	"HGNC:23694"	"GPR161"	"MONDO:0019828"	"pituitary stalk interruption syndrome"	"Orphanet:95496"	"Orphanet:95496"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23694"	"GPR161"	"Orphanet:95496"	"Pituitary stalk interruption syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25322266[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23218"	"2021-09-14"
"GENCC_000110-HGNC_3151-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:3151"	"ECHS1"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3151"	"ECHS1"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25393721[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23219"	"2021-09-14"
"GENCC_000110-HGNC_7872-Orphanet_930-HP_0000007-GENCC_100009"	"HGNC:7872"	"NOS1"	"MONDO:0019635"	"idiopathic achalasia"	"Orphanet:930"	"Orphanet:930"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7872"	"NOS1"	"Orphanet:930"	"Idiopathic achalasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25479138[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23220"	"2021-09-14"
"GENCC_000110-HGNC_8609-Orphanet_1775-HP_0000006-GENCC_100009"	"HGNC:8609"	"PARN"	"MONDO:0015780"	"dyskeratosis congenita"	"Orphanet:1775"	"Orphanet:1775"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8609"	"PARN"	"Orphanet:1775"	"Dyskeratosis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25893599[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23221"	"2021-09-14"
"GENCC_000110-HGNC_8609-Orphanet_3322-HP_0000006-GENCC_100009"	"HGNC:8609"	"PARN"	"MONDO:0018045"	"Hoyeraal-Hreidarsson syndrome"	"Orphanet:3322"	"Orphanet:3322"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8609"	"PARN"	"Orphanet:3322"	"Hoyeraal-Hreidarsson syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25893599[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23221"	"2021-09-14"
"GENCC_000110-HGNC_20372-Orphanet_2556-HP_0001417-GENCC_100009"	"HGNC:20372"	"NDUFB11"	"MONDO:0010672"	"linear skin defects with multiple congenital anomalies"	"Orphanet:2556"	"Orphanet:2556"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:20372"	"NDUFB11"	"Orphanet:2556"	"Microphthalmia with linear skin defects syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25772934[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23222"	"2021-09-14"
"GENCC_000110-HGNC_2972-Orphanet_2382-HP_0000006-GENCC_100009"	"HGNC:2972"	"DNM1"	"MONDO:0016532"	"Lennox-Gastaut syndrome"	"Orphanet:2382"	"Orphanet:2382"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2972"	"DNM1"	"Orphanet:2382"	"Lennox-Gastaut syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25262651[PMID]_25533962[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23223"	"2021-09-14"
"GENCC_000110-HGNC_2972-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:2972"	"DNM1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2972"	"DNM1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25262651[PMID]_25533962[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23223"	"2021-09-14"
"GENCC_000110-HGNC_4204-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:4204"	"GCNT2"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4204"	"GCNT2"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21761136[PMID]_26622071[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23224"	"2021-09-14"
"GENCC_000110-HGNC_12974-Orphanet_33364-HP_0000007-GENCC_100009"	"HGNC:12974"	"RNF113A"	"MONDO:0018053"	"trichothiodystrophy"	"Orphanet:33364"	"Orphanet:33364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12974"	"RNF113A"	"Orphanet:33364"	"Trichothiodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25612912[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23225"	"2021-09-14"
"GENCC_000110-HGNC_17101-Orphanet_3447-HP_0000006-GENCC_100009"	"HGNC:17101"	"SUZ12"	"MONDO:0010193"	"Weaver syndrome"	"Orphanet:3447"	"Orphanet:3447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17101"	"SUZ12"	"Orphanet:3447"	"Weaver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28229514[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23226"	"2021-09-14"
"GENCC_000110-HGNC_3942-Orphanet_457485-HP_0000006-GENCC_100009"	"HGNC:3942"	"MTOR"	"MONDO:0014716"	"macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"	"Orphanet:457485"	"Orphanet:457485"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3942"	"MTOR"	"Orphanet:457485"	"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25851998[PMID]_26542245[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23236"	"2021-09-14"
"GENCC_000110-HGNC_6250-Orphanet_3473-HP_0000007-GENCC_100009"	"HGNC:6250"	"KCNH1"	"MONDO:0000200"	"Zimmermann-Laband syndrome"	"Orphanet:3473"	"Orphanet:3473"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6250"	"KCNH1"	"Orphanet:3473"	"Zimmermann-Laband syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25915598[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23250"	"2021-09-14"
"GENCC_000110-HGNC_6250-Orphanet_420561-HP_0000006-GENCC_100009"	"HGNC:6250"	"KCNH1"	"MONDO:0012735"	"Temple-Baraitser syndrome"	"Orphanet:420561"	"Orphanet:420561"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6250"	"KCNH1"	"Orphanet:420561"	"Temple-Baraitser syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25420144[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23250"	"2021-09-14"
"GENCC_000110-HGNC_24036-Orphanet_821-HP_0000006-GENCC_100009"	"HGNC:24036"	"APC2"	"MONDO:0019349"	"Sotos syndrome"	"Orphanet:821"	"Orphanet:821"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24036"	"APC2"	"Orphanet:821"	"Sotos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25753423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23251"	"2021-09-14"
"GENCC_000110-HGNC_9879-Orphanet_420566-HP_0000007-GENCC_100009"	"HGNC:9879"	"RASGRP2"	"MONDO:0014386"	"platelet-type bleeding disorder 18"	"Orphanet:420566"	"Orphanet:420566"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9879"	"RASGRP2"	"Orphanet:420566"	"Bleeding disorder due to CalDAG-GEFI deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24958846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23252"	"2021-09-14"
"GENCC_000110-HGNC_2519-Orphanet_420573-HP_0000007-GENCC_100009"	"HGNC:2519"	"CTPS1"	"MONDO:0014391"	"severe combined immunodeficiency due to CTPS1 deficiency"	"Orphanet:420573"	"Orphanet:420573"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2519"	"CTPS1"	"Orphanet:420573"	"Severe combined immunodeficiency due to CTPS1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24870241[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23253"	"2021-09-14"
"GENCC_000110-HGNC_26926-Orphanet_423384-HP_0000007-GENCC_100009"	"HGNC:26926"	"JAGN1"	"MONDO:0014456"	"autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"	"Orphanet:423384"	"Orphanet:423384"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26926"	"JAGN1"	"Orphanet:423384"	"Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25129144[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23254"	"2021-09-14"
"GENCC_000110-HGNC_6027-Orphanet_420699-HP_0000007-GENCC_100009"	"HGNC:6027"	"CXCR2"	"MONDO:0018487"	"autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"	"Orphanet:420699"	"Orphanet:420699"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6027"	"CXCR2"	"Orphanet:420699"	"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24777453[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23255"	"2021-09-14"
"GENCC_000110-HGNC_14253-Orphanet_424027-HP_0000007-GENCC_100009"	"HGNC:14253"	"CERS1"	"MONDO:0014545"	"progressive myoclonic epilepsy type 8"	"Orphanet:424027"	"Orphanet:424027"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14253"	"CERS1"	"Orphanet:424027"	"Progressive myoclonic epilepsy type 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24782409[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23256"	"2021-09-14"
"GENCC_000110-HGNC_29300-Orphanet_420686-HP_0000007-GENCC_100009"	"HGNC:29300"	"KANK2"	"MONDO:0014492"	"wooly hair-palmoplantar keratoderma syndrome"	"Orphanet:420686"	"Orphanet:420686"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29300"	"KANK2"	"Orphanet:420686"	"Woolly hair-palmoplantar keratoderma syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24671081[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23257"	"2021-09-14"
"GENCC_000110-HGNC_12827-Orphanet_1980-HP_0000006-GENCC_100009"	"HGNC:12827"	"XPR1"	"MONDO:0008947"	"bilateral striopallidodentate calcinosis"	"Orphanet:1980"	"Orphanet:1980"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12827"	"XPR1"	"Orphanet:1980"	"Bilateral striopallidodentate calcinosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25938945[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23258"	"2021-09-14"
"GENCC_000110-HGNC_11733-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:11733"	"TEX11"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11733"	"TEX11"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25970010[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23259"	"2021-09-14"
"GENCC_000110-HGNC_11042-Orphanet_1942-HP_0000005-GENCC_100009"	"HGNC:11042"	"SLC6A1"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"Orphanet:1942"	"Orphanet:1942"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11042"	"SLC6A1"	"Orphanet:1942"	"Myoclonic-astatic epilepsy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25865495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23260"	"2021-09-14"
"GENCC_000110-HGNC_13406-Orphanet_97249-HP_0000007-GENCC_100009"	"HGNC:13406"	"PCLO"	"MONDO:0011948"	"pontocerebellar hypoplasia type 3"	"Orphanet:97249"	"Orphanet:97249"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13406"	"PCLO"	"Orphanet:97249"	"Pontocerebellar hypoplasia type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25832664[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23261"	"2021-09-14"
"GENCC_000110-HGNC_18358-Orphanet_1334-HP_0000006-GENCC_100009"	"HGNC:18358"	"IL17RC"	"MONDO:0015279"	"chronic mucocutaneous candidiasis"	"Orphanet:1334"	"Orphanet:1334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18358"	"IL17RC"	"Orphanet:1334"	"Chronic mucocutaneous candidiasis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25918342[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23262"	"2021-09-14"
"GENCC_000110-HGNC_8778-Orphanet_1276-HP_0000006-GENCC_100009"	"HGNC:8778"	"PDE3A"	"MONDO:0007211"	"brachydactyly-arterial hypertension syndrome"	"Orphanet:1276"	"Orphanet:1276"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8778"	"PDE3A"	"Orphanet:1276"	"Brachydactyly-arterial hypertension syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25961942[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23263"	"2021-09-14"
"GENCC_000110-HGNC_21308-Orphanet_423296-HP_0000006-GENCC_100009"	"HGNC:21308"	"ELOVL5"	"MONDO:0014417"	"spinocerebellar ataxia type 38"	"Orphanet:423296"	"Orphanet:423296"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21308"	"ELOVL5"	"Orphanet:423296"	"Spinocerebellar ataxia type 38"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25065913[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23264"	"2021-09-14"
"GENCC_000110-HGNC_29456-Orphanet_424261-HP_0000007-GENCC_100009"	"HGNC:29456"	"TOR1AIP1"	"MONDO:0014900"	"autosomal recessive limb-girdle muscular dystrophy type 2Y"	"Orphanet:424261"	"Orphanet:424261"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29456"	"TOR1AIP1"	"Orphanet:424261"	"TOR1AIP1-related limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24856141[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23265"	"2021-09-14"
"GENCC_000110-HGNC_26661-Orphanet_420741-HP_0000007-GENCC_100009"	"HGNC:26661"	"RNF168"	"MONDO:0012764"	"RIDDLE syndrome"	"Orphanet:420741"	"Orphanet:420741"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26661"	"RNF168"	"Orphanet:420741"	"RIDDLE syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21394101[PMID]_19203578[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23266"	"2021-09-14"
"GENCC_000110-HGNC_12651-Orphanet_420728-HP_0000007-GENCC_100009"	"HGNC:12651"	"VARS1"	"MONDO:0014397"	"combined oxidative phosphorylation defect type 20"	"Orphanet:420728"	"Orphanet:420728"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12651"	"VARS1"	"Orphanet:420728"	"Combined oxidative phosphorylation defect type 20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24827421[PMID]_25058219[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23267"	"2021-09-14"
"GENCC_000110-HGNC_30740-Orphanet_420733-HP_0000007-GENCC_100009"	"HGNC:30740"	"TARS2"	"MONDO:0014398"	"combined oxidative phosphorylation defect type 21"	"Orphanet:420733"	"Orphanet:420733"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30740"	"TARS2"	"Orphanet:420733"	"Combined oxidative phosphorylation defect type 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24827421[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23268"	"2021-09-14"
"GENCC_000110-HGNC_16031-Orphanet_329173-HP_0000007-GENCC_100009"	"HGNC:16031"	"RNF31"	"MONDO:0017992"	"autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"	"Orphanet:329173"	"Orphanet:329173"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16031"	"RNF31"	"Orphanet:329173"	"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26008899[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23269"	"2021-09-14"
"GENCC_000110-HGNC_25009-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:25009"	"UBE2T"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25009"	"UBE2T"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26046368[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23270"	"2021-09-14"
"GENCC_000110-HGNC_11918-Orphanet_431149-HP_0000007-GENCC_100009"	"HGNC:11918"	"TNFRSF4"	"MONDO:0014268"	"combined immunodeficiency due to OX40 deficiency"	"Orphanet:431149"	"Orphanet:431149"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11918"	"TNFRSF4"	"Orphanet:431149"	"Combined immunodeficiency due to OX40 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23897980[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23272"	"2021-09-14"
"GENCC_000110-HGNC_26404-Orphanet_431361-HP_0000007-GENCC_100009"	"HGNC:26404"	"NADK2"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"Orphanet:431361"	"Orphanet:431361"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26404"	"NADK2"	"Orphanet:431361"	"Progressive encephalopathy with leukodystrophy due to DECR deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24847004[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23273"	"2021-09-14"
"GENCC_000110-HGNC_24564-Orphanet_434179-HP_0000007-GENCC_100009"	"HGNC:24564"	"C2CD3"	"MONDO:0014413"	"orofaciodigital syndrome type 14"	"Orphanet:434179"	"Orphanet:434179"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24564"	"C2CD3"	"Orphanet:434179"	"Orofaciodigital syndrome type 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24997988[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23274"	"2021-09-14"
"GENCC_000110-HGNC_3330-Orphanet_99796-HP_0000007-GENCC_100009"	"HGNC:3330"	"EML1"	"MONDO:0020491"	"subcortical band heterotopia"	"Orphanet:99796"	"Orphanet:99796"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3330"	"EML1"	"Orphanet:99796"	"Subcortical band heterotopia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24859200[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23275"	"2021-09-14"
"GENCC_000110-HGNC_11363-Orphanet_431166-HP_0000007-GENCC_100009"	"HGNC:11363"	"STAT2"	"MONDO:0014715"	"primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"	"Orphanet:431166"	"Orphanet:431166"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11363"	"STAT2"	"Orphanet:431166"	"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23391734[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23276"	"2021-09-14"
"GENCC_000110-HGNC_18141-Orphanet_84081-HP_0000007-GENCC_100009"	"HGNC:18141"	"DCDC2"	"MONDO:0019394"	"Senior-Boichis syndrome"	"Orphanet:84081"	"Orphanet:84081"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18141"	"DCDC2"	"Orphanet:84081"	"Senior-Boichis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25557784[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23278"	"2021-09-14"
"GENCC_000110-HGNC_18141-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:18141"	"DCDC2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18141"	"DCDC2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25601850[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23278"	"2021-09-14"
"GENCC_000110-HGNC_18141-Orphanet_480556-HP_0000007-GENCC_100009"	"HGNC:18141"	"DCDC2"	"MONDO:0018816"	"isolated neonatal sclerosing cholangitis"	"Orphanet:480556"	"Orphanet:480556"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18141"	"DCDC2"	"Orphanet:480556"	"Isolated neonatal sclerosing cholangitis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27319779_27469900[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23278"	"2021-09-14"
"GENCC_000110-HGNC_26114-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:26114"	"EDC3"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26114"	"EDC3"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25701870[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23279"	"2021-09-14"
"GENCC_000110-HGNC_11188-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:11188"	"SOS2"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11188"	"SOS2"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25795793[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23280"	"2021-09-14"
"GENCC_000110-HGNC_4040-Orphanet_3107-HP_0000006-GENCC_100009"	"HGNC:4040"	"FZD2"	"MONDO:0008389"	"autosomal dominant Robinow syndrome"	"Orphanet:3107"	"Orphanet:3107"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4040"	"FZD2"	"Orphanet:3107"	"Autosomal dominant Robinow syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29276006[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23281"	"2021-09-14"
"GENCC_000110-HGNC_4040-Orphanet_93328-HP_0000006-GENCC_100009"	"HGNC:4040"	"FZD2"	"MONDO:0008123"	"autosomal dominant omodysplasia"	"Orphanet:93328"	"Orphanet:93328"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4040"	"FZD2"	"Orphanet:93328"	"Autosomal dominant omodysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25759469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23281"	"2021-09-14"
"GENCC_000110-HGNC_18667-Orphanet_1170-HP_0000007-GENCC_100009"	"HGNC:18667"	"PMPCA"	"MONDO:0008943"	"autosomal recessive spinocerebellar ataxia 2"	"Orphanet:1170"	"Orphanet:1170"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18667"	"PMPCA"	"Orphanet:1170"	"Autosomal recessive cerebelloparenchymal disorder type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25808372[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23282"	"2021-09-14"
"GENCC_000110-HGNC_28769-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:28769"	"DRAM2"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28769"	"DRAM2"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25983245[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23284"	"2021-09-14"
"GENCC_000110-HGNC_24990-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:24990"	"COA3"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24990"	"COA3"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25604084[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23285"	"2021-09-14"
"GENCC_000110-HGNC_15517-Orphanet_85194-HP_0000007-GENCC_100009"	"HGNC:15517"	"XYLT2"	"MONDO:0011604"	"spondylo-ocular syndrome"	"Orphanet:85194"	"Orphanet:85194"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15517"	"XYLT2"	"Orphanet:85194"	"Spondylo-ocular syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26027496[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23286"	"2021-09-14"
"GENCC_000110-HGNC_11219-Orphanet_216820-HP_0000006-GENCC_100009"	"HGNC:11219"	"SPARC"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"Orphanet:216820"	"Orphanet:216820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11219"	"SPARC"	"Orphanet:216820"	"Osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26027498[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23287"	"2021-09-14"
"GENCC_000110-HGNC_25897-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:25897"	"MFSD2A"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25897"	"MFSD2A"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26005865[PMID]_26005868[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23296"	"2021-09-14"
"GENCC_000110-HGNC_21054-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:21054"	"RSPH3"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21054"	"RSPH3"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26073779[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23300"	"2021-09-14"
"GENCC_000110-HGNC_18466-Orphanet_329336-HP_0000006-GENCC_100009"	"HGNC:18466"	"RNASEH1"	"MONDO:0018002"	"adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"	"Orphanet:329336"	"Orphanet:329336"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18466"	"RNASEH1"	"Orphanet:329336"	"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26094573[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23312"	"2021-09-14"
"GENCC_000110-HGNC_19960-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:19960"	"KIAA0586"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19960"	"KIAA0586"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26096313[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23313"	"2021-09-14"
"GENCC_000110-HGNC_19960-Orphanet_397715-HP_0000007-GENCC_100009"	"HGNC:19960"	"KIAA0586"	"MONDO:0018342"	"Joubert syndrome with Jeune asphyxiating thoracic dystrophy"	"Orphanet:397715"	"Orphanet:397715"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19960"	"KIAA0586"	"Orphanet:397715"	"Joubert syndrome with Jeune asphyxiating thoracic dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26386044[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23313"	"2021-09-14"
"GENCC_000110-HGNC_14628-Orphanet_2268-HP_0000007-GENCC_100009"	"HGNC:14628"	"CDCA7"	"MONDO:0000133"	"immunodeficiency-centromeric instability-facial anomalies syndrome"	"Orphanet:2268"	"Orphanet:2268"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14628"	"CDCA7"	"Orphanet:2268"	"ICF syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26216346[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23339"	"2021-09-14"
"GENCC_000110-HGNC_4861-Orphanet_2268-HP_0000007-GENCC_100009"	"HGNC:4861"	"HELLS"	"MONDO:0000133"	"immunodeficiency-centromeric instability-facial anomalies syndrome"	"Orphanet:2268"	"Orphanet:2268"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4861"	"HELLS"	"Orphanet:2268"	"ICF syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26216346[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23340"	"2021-09-14"
"GENCC_000110-HGNC_791-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:791"	"ATF6"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:791"	"ATF6"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28479318[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23342"	"2021-09-14"
"GENCC_000110-HGNC_791-Orphanet_49382-HP_0000007-GENCC_100009"	"HGNC:791"	"ATF6"	"MONDO:0018852"	"achromatopsia"	"Orphanet:49382"	"Orphanet:49382"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:791"	"ATF6"	"Orphanet:49382"	"Achromatopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26029869[PMID]_26063662[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23342"	"2021-09-14"
"GENCC_000110-HGNC_2509-Orphanet_99001-HP_0000006-GENCC_100009"	"HGNC:2509"	"CTNNA1"	"MONDO:0020381"	"patterned macular dystrophy"	"Orphanet:99001"	"Orphanet:99001"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2509"	"CTNNA1"	"Orphanet:99001"	"Butterfly-shaped pigment dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26691986[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23343"	"2021-09-14"
"GENCC_000110-HGNC_25640-Orphanet_2114-HP_0000006-GENCC_100009"	"HGNC:25640"	"UFSP2"	"MONDO:0007726"	"hip dysplasia, Beukes type"	"Orphanet:2114"	"Orphanet:2114"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25640"	"UFSP2"	"Orphanet:2114"	"Hip dysplasia, Beukes type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"neant"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23344"	"2021-09-14"
"GENCC_000110-HGNC_25640-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:25640"	"UFSP2"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25640"	"UFSP2"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33473208[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23344"	"2021-09-14"
"GENCC_000110-HGNC_6708-Orphanet_55654-HP_0000006-GENCC_100009"	"HGNC:6708"	"LSS"	"MONDO:0018914"	"hypotrichosis simplex"	"Orphanet:55654"	"Orphanet:55654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6708"	"LSS"	"Orphanet:55654"	"Hypotrichosis simplex"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30401459[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23345"	"2021-09-14"
"GENCC_000110-HGNC_6708-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:6708"	"LSS"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6708"	"LSS"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"262003412[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23345"	"2021-09-14"
"GENCC_000110-HGNC_25198-Orphanet_2254-HP_0000007-GENCC_100009"	"HGNC:25198"	"SLC25A46"	"MONDO:0016396"	"pontocerebellar hypoplasia type 1"	"Orphanet:2254"	"Orphanet:2254"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25198"	"SLC25A46"	"Orphanet:2254"	"Pontocerebellar hypoplasia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28637197[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23346"	"2021-09-14"
"GENCC_000110-HGNC_25198-Orphanet_90120-HP_0000006-GENCC_100009"	"HGNC:25198"	"SLC25A46"	"MONDO:0019551"	"hereditary motor and sensory neuropathy type 6"	"Orphanet:90120"	"Orphanet:90120"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25198"	"SLC25A46"	"Orphanet:90120"	"Hereditary motor and sensory neuropathy type 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26168012[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23346"	"2021-09-14"
"GENCC_000110-HGNC_24035-Orphanet_552-HP_0000006-GENCC_100009"	"HGNC:24035"	"APPL1"	"MONDO:0018911"	"maturity-onset diabetes of the young"	"Orphanet:552"	"Orphanet:552"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24035"	"APPL1"	"Orphanet:552"	"MODY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26073777[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23347"	"2021-09-14"
"GENCC_000110-HGNC_21390-Orphanet_2311-HP_0000007-GENCC_100009"	"HGNC:21390"	"RIPPLY2"	"MONDO:0010180"	"autosomal recessive spondylocostal dysostosis"	"Orphanet:2311"	"Orphanet:2311"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21390"	"RIPPLY2"	"Orphanet:2311"	"Autosomal recessive spondylocostal dysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25343988[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23356"	"2021-09-14"
"GENCC_000110-HGNC_23987-Orphanet_255241-HP_0000007-GENCC_100009"	"HGNC:23987"	"NDUFA12"	"MONDO:0016815"	"Leigh syndrome with leukodystrophy"	"Orphanet:255241"	"Orphanet:255241"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23987"	"NDUFA12"	"Orphanet:255241"	"Leigh syndrome with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21617257[PMID]_22644603[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23357"	"2021-09-14"
"GENCC_000110-HGNC_7794-Orphanet_1572-HP_0000006-GENCC_100009"	"HGNC:7794"	"NFKB1"	"MONDO:0015517"	"common variable immunodeficiency"	"Orphanet:1572"	"Orphanet:1572"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7794"	"NFKB1"	"Orphanet:1572"	"Common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26279205[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23358"	"2021-09-14"
"GENCC_000110-HGNC_27962-Orphanet_425120-HP_0000006-GENCC_100009"	"HGNC:27962"	"STING1"	"MONDO:0014405"	"STING-associated vasculopathy with onset in infancy"	"Orphanet:425120"	"Orphanet:425120"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:27962"	"STING1"	"Orphanet:425120"	"STING-associated vasculopathy with onset in infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25029335[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23359"	"2021-09-14"
"GENCC_000110-HGNC_27962-Orphanet_481662-HP_0000006-GENCC_100009"	"HGNC:27962"	"STING1"	"MONDO:0018827"	"familial chilblain lupus"	"Orphanet:481662"	"Orphanet:481662"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:27962"	"STING1"	"Orphanet:481662"	"Familial Chilblain lupus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27566796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23359"	"2021-09-14"
"GENCC_000110-HGNC_9968-Orphanet_570-HP_0000006-GENCC_100009"	"HGNC:9968"	"REV3L"	"MONDO:0008006"	"Mobius syndrome"	"Orphanet:570"	"Orphanet:570"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9968"	"REV3L"	"Orphanet:570"	"Moebius syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26068067[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23362"	"2021-09-14"
"GENCC_000110-HGNC_2910-Orphanet_974-HP_0000006-GENCC_100009"	"HGNC:2910"	"DLL4"	"MONDO:0007034"	"Adams-Oliver syndrome"	"Orphanet:974"	"Orphanet:974"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2910"	"DLL4"	"Orphanet:974"	"Adams-Oliver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26299364[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23372"	"2021-09-14"
"GENCC_000110-HGNC_2910-Orphanet_1114-HP_0000006-GENCC_100009"	"HGNC:2910"	"DLL4"	"MONDO:0007145"	"aplasia cutis congenita"	"Orphanet:1114"	"Orphanet:1114"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2910"	"DLL4"	"Orphanet:1114"	"Aplasia cutis congenita"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26299364[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23372"	"2021-09-14"
"GENCC_000110-HGNC_9394-Orphanet_171709-HP_0000007-GENCC_100009"	"HGNC:9394"	"PICK1"	"MONDO:0015746"	"male infertility due to globozoospermia"	"Orphanet:171709"	"Orphanet:171709"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9394"	"PICK1"	"Orphanet:171709"	"Male infertility due to globozoospermia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20562896[PMID]_22571172[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23375"	"2021-09-14"
"GENCC_000110-HGNC_6758-Orphanet_424099-HP_0000006-GENCC_100009"	"HGNC:6758"	"MAB21L2"	"MONDO:0014380"	"colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"Orphanet:424099"	"Orphanet:424099"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6758"	"MAB21L2"	"Orphanet:424099"	"Colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24906020[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23396"	"2021-09-14"
"GENCC_000110-HGNC_16053-Orphanet_101063-HP_0000006-GENCC_100009"	"HGNC:16053"	"CFAP52"	"MONDO:0010029"	"situs inversus"	"Orphanet:101063"	"Orphanet:101063"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16053"	"CFAP52"	"Orphanet:101063"	"Situs inversus totalis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25469542[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23399"	"2021-09-14"
"GENCC_000110-HGNC_2149-Orphanet_88620-HP_0000006-GENCC_100009"	"HGNC:2149"	"CNGA2"	"MONDO:0007137"	"isolated congenital anosmia"	"Orphanet:88620"	"Orphanet:88620"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2149"	"CNGA2"	"Orphanet:88620"	"Isolated congenital anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25156905[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23418"	"2021-09-14"
"GENCC_000110-HGNC_22986-Orphanet_438117-HP_0000007-GENCC_100009"	"HGNC:22986"	"COL27A1"	"MONDO:0014061"	"Steel syndrome"	"Orphanet:438117"	"Orphanet:438117"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:22986"	"COL27A1"	"Orphanet:438117"	"Steel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24986830[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23420"	"2021-09-14"
"GENCC_000110-HGNC_19963-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:19963"	"TTLL5"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19963"	"TTLL5"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24791901[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23425"	"2021-09-14"
"GENCC_000110-HGNC_8729-Orphanet_438134-HP_0000007-GENCC_100009"	"HGNC:8729"	"PCNA"	"MONDO:0014399"	"ataxia-telangiectasia-like disorder 2"	"Orphanet:438134"	"Orphanet:438134"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8729"	"PCNA"	"Orphanet:438134"	"PCNA-related progressive neurodegenerative photosensitivity syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24911150[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23426"	"2021-09-14"
"GENCC_000110-HGNC_4166-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:4166"	"GAS8"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4166"	"GAS8"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26387594[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23429"	"2021-09-14"
"GENCC_000110-HGNC_6293-Orphanet_3202-HP_0000006-GENCC_100009"	"HGNC:6293"	"KCNN4"	"MONDO:0017910"	"dehydrated hereditary stomatocytosis"	"Orphanet:3202"	"Orphanet:3202"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6293"	"KCNN4"	"Orphanet:3202"	"Dehydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26148990[PMID]_26198474[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23430"	"2021-09-14"
"GENCC_000110-HGNC_29914-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:29914"	"NUP107"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29914"	"NUP107"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26485283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23431"	"2021-09-14"
"GENCC_000110-HGNC_29914-Orphanet_2065-HP_0000007-GENCC_100009"	"HGNC:29914"	"NUP107"	"MONDO:0009627"	"Galloway-Mowat syndrome"	"Orphanet:2065"	"Orphanet:2065"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29914"	"NUP107"	"Orphanet:2065"	"Galloway-Mowat syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28280135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23431"	"2021-09-14"
"GENCC_000110-HGNC_29914-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:29914"	"NUP107"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29914"	"NUP107"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26411495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23431"	"2021-09-14"
"GENCC_000110-HGNC_3619-Orphanet_437552-HP_0000007-GENCC_100009"	"HGNC:3619"	"FCGR3A"	"MONDO:0014313"	"autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"	"Orphanet:437552"	"Orphanet:437552"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3619"	"FCGR3A"	"Orphanet:437552"	"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23006327[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23432"	"2021-09-14"
"GENCC_000110-HGNC_9870-Orphanet_438114-HP_0000007-GENCC_100009"	"HGNC:9870"	"RARS1"	"MONDO:0014506"	"hypomyelinating leukodystrophy 9"	"Orphanet:438114"	"Orphanet:438114"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9870"	"RARS1"	"Orphanet:438114"	"RARS-related autosomal recessive hypomyelinating leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24777941[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23433"	"2021-09-14"
"GENCC_000110-HGNC_24229-Orphanet_435651-HP_0000007-GENCC_100009"	"HGNC:24229"	"CIDEC"	"MONDO:0014098"	"CIDEC-related familial partial lipodystrophy"	"Orphanet:435651"	"Orphanet:435651"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24229"	"CIDEC"	"Orphanet:435651"	"CIDEC-related familial partial lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20049731[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23480"	"2021-09-14"
"GENCC_000110-HGNC_6621-Orphanet_435660-HP_0000007-GENCC_100009"	"HGNC:6621"	"LIPE"	"MONDO:0014431"	"LIPE-related familial partial lipodystrophy"	"Orphanet:435660"	"Orphanet:435660"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6621"	"LIPE"	"Orphanet:435660"	"LIPE-related familial partial lipodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25475467[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23483"	"2021-09-14"
"GENCC_000110-HGNC_6233-Orphanet_435438-HP_0000006-GENCC_100009"	"HGNC:6233"	"KCNC1"	"MONDO:0014521"	"progressive myoclonic epilepsy type 7"	"Orphanet:435438"	"Orphanet:435438"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6233"	"KCNC1"	"Orphanet:435438"	"Progressive myoclonic epilepsy type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25401298[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23484"	"2021-09-14"
"GENCC_000110-HGNC_6267-Orphanet_435628-HP_0000006-GENCC_100009"	"HGNC:6267"	"KCNJ6"	"MONDO:0013572"	"Keppen-Lubinsky syndrome"	"Orphanet:435628"	"Orphanet:435628"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6267"	"KCNJ6"	"Orphanet:435628"	"Keppen-Lubinsky syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25620207[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23487"	"2021-09-14"
"GENCC_000110-HGNC_17861-Orphanet_3156-HP_0000007-GENCC_100009"	"HGNC:17861"	"TRAF3IP1"	"MONDO:0017842"	"Senior-Loken syndrome"	"Orphanet:3156"	"Orphanet:3156"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17861"	"TRAF3IP1"	"Orphanet:3156"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26487268[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23492"	"2021-09-14"
"GENCC_000110-HGNC_17861-Orphanet_93269-HP_0000007-GENCC_100009"	"HGNC:17861"	"TRAF3IP1"	"MONDO:0019662"	"short rib-polydactyly syndrome, Majewski type"	"Orphanet:93269"	"Orphanet:93269"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17861"	"TRAF3IP1"	"Orphanet:93269"	"Short rib-polydactyly syndrome, Majewski type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29068549[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23492"	"2021-09-14"
"GENCC_000110-HGNC_9141-Orphanet_735-HP_0000006-GENCC_100009"	"HGNC:9141"	"PMVK"	"MONDO:0019141"	"porokeratosis of Mibelli"	"Orphanet:735"	"Orphanet:735"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9141"	"PMVK"	"Orphanet:735"	"Porokeratosis of Mibelli"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26202976[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23493"	"2021-09-14"
"GENCC_000110-HGNC_7529-Orphanet_79152-HP_0000006-GENCC_100009"	"HGNC:7529"	"MVD"	"MONDO:0019212"	"disseminated superficial actinic porokeratosis"	"Orphanet:79152"	"Orphanet:79152"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7529"	"MVD"	"Orphanet:79152"	"Disseminated superficial actinic porokeratosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26202976[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23494"	"2021-09-14"
"GENCC_000110-HGNC_3631-Orphanet_79152-HP_0000006-GENCC_100009"	"HGNC:3631"	"FDPS"	"MONDO:0019212"	"disseminated superficial actinic porokeratosis"	"Orphanet:79152"	"Orphanet:79152"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3631"	"FDPS"	"Orphanet:79152"	"Disseminated superficial actinic porokeratosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26202976[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23495"	"2021-09-14"
"GENCC_000110-HGNC_21701-Orphanet_435845-HP_0000007-GENCC_100009"	"HGNC:21701"	"BRAT1"	"MONDO:0013784"	"neonatal-onset encephalopathy with rigidity and seizures"	"Orphanet:435845"	"Orphanet:435845"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21701"	"BRAT1"	"Orphanet:435845"	"Lethal neonatal spasticity-epileptic encephalopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25500575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23496"	"2021-09-14"
"GENCC_000110-HGNC_2277-Orphanet_435998-HP_0000007-GENCC_100009"	"HGNC:2277"	"COX6A1"	"MONDO:0014467"	"Charcot-Marie-Tooth disease recessive intermediate D"	"Orphanet:435998"	"Orphanet:435998"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2277"	"COX6A1"	"Orphanet:435998"	"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25152455[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23497"	"2021-09-14"
"GENCC_000110-HGNC_20492-Orphanet_436271-HP_0000007-GENCC_100009"	"HGNC:20492"	"COA8"	"MONDO:0018576"	"non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"	"Orphanet:436271"	"Orphanet:436271"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20492"	"COA8"	"Orphanet:436271"	"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25175347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23498"	"2021-09-14"
"GENCC_000110-HGNC_11510-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:11510"	"SYT2"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11510"	"SYT2"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25192047[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23499"	"2021-09-14"
"GENCC_000110-HGNC_17964-Orphanet_436245-HP_0000007-GENCC_100009"	"HGNC:17964"	"RDH11"	"MONDO:0014495"	"retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"	"Orphanet:436245"	"Orphanet:436245"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17964"	"RDH11"	"Orphanet:436245"	"Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24916380[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23500"	"2021-09-14"
"GENCC_000110-HGNC_19661-Orphanet_436242-HP_0000006-GENCC_100009"	"HGNC:19661"	"TNNI3K"	"MONDO:0014500"	"atrial conduction disease"	"Orphanet:436242"	"Orphanet:436242"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19661"	"TNNI3K"	"Orphanet:436242"	"Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24925317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23501"	"2021-09-14"
"GENCC_000110-HGNC_26513-Orphanet_436182-HP_0000007-GENCC_100009"	"HGNC:26513"	"NSMCE2"	"MONDO:0018575"	"microcephalic primordial dwarfism-insulin resistance syndrome"	"Orphanet:436182"	"Orphanet:436182"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26513"	"NSMCE2"	"Orphanet:436182"	"Microcephalic primordial dwarfism-insulin resistance syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25105364[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23502"	"2021-09-14"
"GENCC_000110-HGNC_29685-Orphanet_436174-HP_0000007-GENCC_100009"	"HGNC:29685"	"IARS2"	"MONDO:0014455"	"cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"	"Orphanet:436174"	"Orphanet:436174"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29685"	"IARS2"	"Orphanet:436174"	"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25130867[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23503"	"2021-09-14"
"GENCC_000110-HGNC_16412-Orphanet_436166-HP_0000006-GENCC_100009"	"HGNC:16412"	"NLRC4"	"MONDO:0014472"	"periodic fever-infantile enterocolitis-autoinflammatory syndrome"	"Orphanet:436166"	"Orphanet:436166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16412"	"NLRC4"	"Orphanet:436166"	"Periodic fever-infantile enterocolitis-autoinflammatory syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25217960[PMID]_25217959[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23504"	"2021-09-14"
"GENCC_000110-HGNC_16966-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:16966"	"ZMYND11"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16966"	"ZMYND11"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25217958[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23505"	"2021-09-14"
"GENCC_000110-HGNC_19181-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:19181"	"KIF14"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19181"	"KIF14"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28892560[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23506"	"2021-09-14"
"GENCC_000110-HGNC_19181-Orphanet_439897-HP_0000007-GENCC_100009"	"HGNC:19181"	"KIF14"	"MONDO:0014552"	"lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"	"Orphanet:439897"	"Orphanet:439897"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19181"	"KIF14"	"Orphanet:439897"	"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24128419[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23506"	"2021-09-14"
"GENCC_000110-HGNC_25088-Orphanet_435988-HP_0000007-GENCC_100009"	"HGNC:25088"	"SGO1"	"MONDO:0014528"	"chronic atrial and intestinal dysrhythmia"	"Orphanet:435988"	"Orphanet:435988"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25088"	"SGO1"	"Orphanet:435988"	"Chronic atrial and intestinal dysrhythmia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25282101[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23507"	"2021-09-14"
"GENCC_000110-HGNC_25356-Orphanet_435953-HP_0000007-GENCC_100009"	"HGNC:25356"	"SPRTN"	"MONDO:0014527"	"progeroid features-hepatocellular carcinoma predisposition syndrome"	"Orphanet:435953"	"Orphanet:435953"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25356"	"SPRTN"	"Orphanet:435953"	"Progeroid features-hepatocellular carcinoma predisposition syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25261934[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23508"	"2021-09-14"
"GENCC_000110-HGNC_6546-Orphanet_435934-HP_0000007-GENCC_100009"	"HGNC:6546"	"COG2"	"MONDO:0054559"	"congenital disorder of glycosylation, type IIq"	"Orphanet:435934"	"Orphanet:435934"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6546"	"COG2"	"Orphanet:435934"	"COG2-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24784932[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23509"	"2021-09-14"
"GENCC_000110-HGNC_10297-Orphanet_440706-HP_0000007-GENCC_100009"	"HGNC:10297"	"RPIA"	"MONDO:0012073"	"ribose-5-P isomerase deficiency"	"Orphanet:440706"	"Orphanet:440706"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10297"	"RPIA"	"Orphanet:440706"	"Ribose-5-P isomerase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"14988808[PMID]_20499043[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23511"	"2021-09-14"
"GENCC_000110-HGNC_1492-Orphanet_440713-HP_0000007-GENCC_100009"	"HGNC:1492"	"SHPK"	"MONDO:0014969"	"isolated sedoheptulokinase deficiency"	"Orphanet:440713"	"Orphanet:440713"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1492"	"SHPK"	"Orphanet:440713"	"Isolated sedoheptulokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25647543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23512"	"2021-09-14"
"GENCC_000110-HGNC_13818-Orphanet_293181-HP_0000006-GENCC_100009"	"HGNC:13818"	"SLC12A5"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"Orphanet:293181"	"Orphanet:293181"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13818"	"SLC12A5"	"Orphanet:293181"	"Malignant migrating focal seizures of infancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26333769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23514"	"2021-09-14"
"GENCC_000110-HGNC_29101-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:29101"	"ANKLE2"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29101"	"ANKLE2"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25259927[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23518"	"2021-09-14"
"GENCC_000110-HGNC_17513-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:17513"	"HOMER2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17513"	"HOMER2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25816005[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23520"	"2021-09-14"
"GENCC_000110-HGNC_14357-Orphanet_101063-HP_0000006-GENCC_100009"	"HGNC:14357"	"MMP21"	"MONDO:0010029"	"situs inversus"	"Orphanet:101063"	"Orphanet:101063"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14357"	"MMP21"	"Orphanet:101063"	"Situs inversus totalis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26429889[PMID]_26437028[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23522"	"2021-09-14"
"GENCC_000110-HGNC_19016-Orphanet_250923-HP_0000006-GENCC_100009"	"HGNC:19016"	"TRIM44"	"MONDO:0007119"	"isolated aniridia"	"Orphanet:250923"	"Orphanet:250923"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19016"	"TRIM44"	"Orphanet:250923"	"Isolated aniridia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26394807[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23523"	"2021-09-14"
"GENCC_000110-HGNC_6220-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:6220"	"KCNA2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6220"	"KCNA2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25751627[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23525"	"2021-09-14"
"GENCC_000110-HGNC_3192-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:3192"	"EEF1A2"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3192"	"EEF1A2"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24697219[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23526"	"2021-09-14"
"GENCC_000110-HGNC_3192-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:3192"	"EEF1A2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3192"	"EEF1A2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23647072[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23526"	"2021-09-14"
"GENCC_000110-HGNC_4192-Orphanet_438274-HP_0000007-GENCC_100009"	"HGNC:4192"	"GCGR"	"MONDO:0018582"	"GCGR-related hyperglucagonemia"	"Orphanet:438274"	"Orphanet:438274"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4192"	"GCGR"	"Orphanet:438274"	"GCGR-related hyperglucagonemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19657311[PMID]_25914784[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23527"	"2021-09-14"
"GENCC_000110-HGNC_8907-Orphanet_443811-HP_0000007-GENCC_100009"	"HGNC:8907"	"PGM3"	"MONDO:0014353"	"immunodeficiency 23"	"Orphanet:443811"	"Orphanet:443811"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8907"	"PGM3"	"Orphanet:443811"	"PGM3-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24589341[PMID]_24931394[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23528"	"2021-09-14"
"GENCC_000110-HGNC_9382-Orphanet_438207-HP_0000007-GENCC_100009"	"HGNC:9382"	"PRKACG"	"MONDO:0014518"	"platelet-type bleeding disorder 19"	"Orphanet:438207"	"Orphanet:438207"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9382"	"PRKACG"	"Orphanet:438207"	"Severe autosomal recessive macrothrombocytopenia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25061177[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23529"	"2021-09-14"
"GENCC_000110-HGNC_26222-Orphanet_438178-HP_0000007-GENCC_100009"	"HGNC:26222"	"FAR1"	"MONDO:0014510"	"fatty acyl-CoA reductase 1 deficiency"	"Orphanet:438178"	"Orphanet:438178"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26222"	"FAR1"	"Orphanet:438178"	"Fatty acyl-CoA reductase 1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25439727[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23530"	"2021-09-14"
"GENCC_000110-HGNC_26222-Orphanet_447753-HP_0000006-GENCC_100009"	"HGNC:26222"	"FAR1"	"MONDO:0011006"	"hereditary spastic paraplegia 9A"	"Orphanet:447753"	"Orphanet:447753"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26222"	"FAR1"	"Orphanet:447753"	"Autosomal dominant spastic paraplegia type 9A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33239752[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23530"	"2021-09-14"
"GENCC_000110-HGNC_2190-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:2190"	"COL13A1"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2190"	"COL13A1"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26626625[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23552"	"2021-09-14"
"GENCC_000110-HGNC_2190-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:2190"	"COL13A1"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2190"	"COL13A1"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26626625[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23552"	"2021-09-14"
"GENCC_000110-HGNC_15819-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:15819"	"ANKRD1"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15819"	"ANKRD1"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19525294[PMID]_20301486[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23568"	"2021-09-14"
"GENCC_000110-HGNC_6891-Orphanet_2505-HP_0000006-GENCC_100009"	"HGNC:6891"	"MAPRE2"	"MONDO:0007990"	"multiple benign circumferential skin creases on limbs"	"Orphanet:2505"	"Orphanet:2505"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6891"	"MAPRE2"	"Orphanet:2505"	"Multiple benign circumferential skin creases on limbs"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26637975[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23569"	"2021-09-14"
"GENCC_000110-HGNC_20778-Orphanet_2505-HP_0000006-GENCC_100009"	"HGNC:20778"	"TUBB"	"MONDO:0007990"	"multiple benign circumferential skin creases on limbs"	"Orphanet:2505"	"Orphanet:2505"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20778"	"TUBB"	"Orphanet:2505"	"Multiple benign circumferential skin creases on limbs"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26637975[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23571"	"2021-09-14"
"GENCC_000110-HGNC_5028-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:5028"	"HNMT"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5028"	"HNMT"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26206890[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23575"	"2021-09-14"
"GENCC_000110-HGNC_19182-Orphanet_231040-HP_0000006-GENCC_100009"	"HGNC:19182"	"SASH1"	"MONDO:0007891"	"familial generalized lentiginosis"	"Orphanet:231040"	"Orphanet:231040"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19182"	"SASH1"	"Orphanet:231040"	"Familial generalized lentiginosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26203640[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23576"	"2021-09-14"
"GENCC_000110-HGNC_19182-Orphanet_447961-HP_0000007-GENCC_100009"	"HGNC:19182"	"SASH1"	"MONDO:0018657"	"pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"	"Orphanet:447961"	"Orphanet:447961"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19182"	"SASH1"	"Orphanet:447961"	"Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25315659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23576"	"2021-09-14"
"GENCC_000110-HGNC_6692-Orphanet_2340-HP_0000006-GENCC_100009"	"HGNC:6692"	"LRP1"	"MONDO:0000136"	"keratosis follicularis spinulosa decalvans"	"Orphanet:2340"	"Orphanet:2340"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6692"	"LRP1"	"Orphanet:2340"	"Keratosis follicularis spinulosa decalvans"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26142438[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23577"	"2021-09-14"
"GENCC_000110-HGNC_6692-Orphanet_79100-HP_0000007-GENCC_100009"	"HGNC:6692"	"LRP1"	"MONDO:0008849"	"atrophoderma vermiculata"	"Orphanet:79100"	"Orphanet:79100"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6692"	"LRP1"	"Orphanet:79100"	"Atrophoderma vermiculata"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26142438[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23577"	"2021-09-14"
"GENCC_000110-HGNC_3179-Orphanet_443995-HP_0000006-GENCC_100009"	"HGNC:3179"	"EDNRA"	"MONDO:0014608"	"mandibulofacial dysostosis with alopecia"	"Orphanet:443995"	"Orphanet:443995"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3179"	"EDNRA"	"Orphanet:443995"	"Mandibulofacial dysostosis with alopecia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25772936[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23587"	"2021-09-14"
"GENCC_000110-HGNC_14880-Orphanet_444013-HP_0000007-GENCC_100009"	"HGNC:14880"	"GTPBP3"	"MONDO:0014525"	"combined oxidative phosphorylation defect type 23"	"Orphanet:444013"	"Orphanet:444013"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14880"	"GTPBP3"	"Orphanet:444013"	"Combined oxidative phosphorylation defect type 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25434004[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23588"	"2021-09-14"
"GENCC_000110-HGNC_6217-Orphanet_1083-HP_0000007-GENCC_100009"	"HGNC:6217"	"KATNB1"	"MONDO:0015204"	"microlissencephaly"	"Orphanet:1083"	"Orphanet:1083"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6217"	"KATNB1"	"Orphanet:1083"	"Microlissencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25521378[PMID]_25521379[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23589"	"2021-09-14"
"GENCC_000110-HGNC_21484-Orphanet_444048-HP_0000007-GENCC_100009"	"HGNC:21484"	"MCM9"	"MONDO:0014520"	"46,XX ovarian dysgenesis-short stature syndrome"	"Orphanet:444048"	"Orphanet:444048"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21484"	"MCM9"	"Orphanet:444048"	"46,XX ovarian dysgenesis-short stature syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25480036[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23590"	"2021-09-14"
"GENCC_000110-HGNC_1857-Orphanet_444069-HP_0000007-GENCC_100009"	"HGNC:1857"	"CENPF"	"MONDO:0009477"	"Stromme syndrome"	"Orphanet:444069"	"Orphanet:444069"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1857"	"CENPF"	"Orphanet:444069"	"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25564561[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23591"	"2021-09-14"
"GENCC_000110-HGNC_1857-Orphanet_506307-HP_0000007-GENCC_100009"	"HGNC:1857"	"CENPF"	"MONDO:0009477"	"Stromme syndrome"	"Orphanet:506307"	"Orphanet:506307"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1857"	"CENPF"	"Orphanet:506307"	"Stromme syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25564561[PMID]_26820108[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23591"	"2021-09-14"
"GENCC_000110-HGNC_11551-Orphanet_444072-HP_0000007-GENCC_100009"	"HGNC:11551"	"BRF1"	"MONDO:0014529"	"cerebellar-facial-dental syndrome"	"Orphanet:444072"	"Orphanet:444072"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11551"	"BRF1"	"Orphanet:444072"	"Cerebellar-facial-dental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25561519[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23592"	"2021-09-14"
"GENCC_000110-HGNC_17869-Orphanet_444077-HP_0000006-GENCC_100009"	"HGNC:17869"	"AFF4"	"MONDO:0014609"	"cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome"	"Orphanet:444077"	"Orphanet:444077"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17869"	"AFF4"	"Orphanet:444077"	"Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25730767[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23593"	"2021-09-14"
"GENCC_000110-HGNC_2230-Orphanet_444092-HP_0000006-GENCC_100009"	"HGNC:2230"	"COPA"	"MONDO:0014629"	"autoimmune interstitial lung disease-arthritis syndrome"	"Orphanet:444092"	"Orphanet:444092"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2230"	"COPA"	"Orphanet:444092"	"Autoimmune interstitial lung disease-arthritis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25894502[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23594"	"2021-09-14"
"GENCC_000110-HGNC_18540-Orphanet_444099-HP_0000006-GENCC_100009"	"HGNC:18540"	"CPT1C"	"MONDO:0014568"	"hereditary spastic paraplegia 73"	"Orphanet:444099"	"Orphanet:444099"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18540"	"CPT1C"	"Orphanet:444099"	"Autosomal dominant spastic paraplegia type 73"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25751282[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23595"	"2021-09-14"
"GENCC_000110-HGNC_1515-Orphanet_444138-HP_0000007-GENCC_100009"	"HGNC:1515"	"CAST"	"MONDO:0014574"	"peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	"Orphanet:444138"	"Orphanet:444138"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1515"	"CAST"	"Orphanet:444138"	"Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25683118[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23596"	"2021-09-14"
"GENCC_000110-HGNC_12016-Orphanet_444463-HP_0000007-GENCC_100009"	"HGNC:12016"	"TPP2"	"MONDO:0018636"	"autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome"	"Orphanet:444463"	"Orphanet:444463"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12016"	"TPP2"	"Orphanet:444463"	"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25414442[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23597"	"2021-09-14"
"GENCC_000110-HGNC_26274-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:26274"	"NARS2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26274"	"NARS2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25807530[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23598"	"2021-09-14"
"GENCC_000110-HGNC_26274-Orphanet_444458-HP_0000007-GENCC_100009"	"HGNC:26274"	"NARS2"	"MONDO:0014547"	"combined oxidative phosphorylation defect type 24"	"Orphanet:444458"	"Orphanet:444458"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26274"	"NARS2"	"Orphanet:444458"	"Combined oxidative phosphorylation defect type 24"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25385316[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23598"	"2021-09-14"
"GENCC_000110-HGNC_12691-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:12691"	"EZR"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12691"	"EZR"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25504542[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23599"	"2021-09-14"
"GENCC_000110-HGNC_30839-Orphanet_170-HP_0000006-GENCC_100009"	"HGNC:30839"	"KRT25"	"MONDO:0008686"	"isolated familial wooly hair disorder"	"Orphanet:170"	"Orphanet:170"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30839"	"KRT25"	"Orphanet:170"	"Woolly hair"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26160856[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23602"	"2021-09-14"
"GENCC_000110-HGNC_30764-Orphanet_808-HP_0000007-GENCC_100009"	"HGNC:30764"	"TRAIP"	"MONDO:0019342"	"Seckel syndrome"	"Orphanet:808"	"Orphanet:808"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30764"	"TRAIP"	"Orphanet:808"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26595769[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23603"	"2021-09-14"
"GENCC_000110-HGNC_24866-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:24866"	"CEP104"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24866"	"CEP104"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26477546[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23604"	"2021-09-14"
"GENCC_000110-HGNC_29068-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:29068"	"KATNIP"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29068"	"KATNIP"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26714646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23605"	"2021-09-14"
"GENCC_000110-HGNC_30664-Orphanet_445038-HP_0000007-GENCC_100009"	"HGNC:30664"	"CLPB"	"MONDO:0014561"	"3-methylglutaconic aciduria, type VIIB"	"Orphanet:445038"	"Orphanet:445038"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30664"	"CLPB"	"Orphanet:445038"	"3-methylglutaconic aciduria type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25597511[PMID]_25597510[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23613"	"2021-09-14"
"GENCC_000110-HGNC_9966-Orphanet_2024-HP_0000006-GENCC_100009"	"HGNC:9966"	"REST"	"MONDO:0016070"	"hereditary gingival fibromatosis"	"Orphanet:2024"	"Orphanet:2024"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9966"	"REST"	"Orphanet:2024"	"Hereditary gingival fibromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28686854[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23626"	"2021-09-14"
"GENCC_000110-HGNC_28213-Orphanet_247262-HP_0000007-GENCC_100009"	"HGNC:28213"	"PIGY"	"MONDO:0016596"	"hyperphosphatasia-intellectual disability syndrome"	"Orphanet:247262"	"Orphanet:247262"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28213"	"PIGY"	"Orphanet:247262"	"Hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26293662[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23627"	"2021-09-14"
"GENCC_000110-HGNC_11048-Orphanet_443236-HP_0000006-GENCC_100009"	"HGNC:11048"	"SLC6A2"	"MONDO:0011479"	"postural orthostatic tachycardia syndrome"	"Orphanet:443236"	"Orphanet:443236"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11048"	"SLC6A2"	"Orphanet:443236"	"Postural orthostatic tachycardia syndrome due to NET deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"10684912[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23628"	"2021-09-14"
"GENCC_000110-HGNC_13575-Orphanet_199-HP_0000006-GENCC_100009"	"HGNC:13575"	"BRD4"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"Orphanet:199"	"Orphanet:199"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13575"	"BRD4"	"Orphanet:199"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29379197[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23630"	"2021-09-14"
"GENCC_000110-HGNC_19701-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:19701"	"CNKSR2"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:19701"	"CNKSR2"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25644381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23631"	"2021-09-14"
"GENCC_000110-HGNC_19701-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:19701"	"CNKSR2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19701"	"CNKSR2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25223753[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23631"	"2021-09-14"
"GENCC_000110-HGNC_9439-Orphanet_445062-HP_0000007-GENCC_100009"	"HGNC:9439"	"DNAJC3"	"MONDO:0014523"	"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"Orphanet:445062"	"Orphanet:445062"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9439"	"DNAJC3"	"Orphanet:445062"	"Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25466870[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23632"	"2021-09-14"
"GENCC_000110-HGNC_20716-Orphanet_320406-HP_0000007-GENCC_100009"	"HGNC:20716"	"KLC2"	"MONDO:0012297"	"spastic paraplegia, optic atropy, and neuropathy"	"Orphanet:320406"	"Orphanet:320406"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20716"	"KLC2"	"Orphanet:320406"	"Spastic paraplegia-optic atrophy-neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26385635[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23633"	"2021-09-14"
"GENCC_000110-HGNC_17493-Orphanet_2554-HP_0000006-GENCC_100009"	"HGNC:17493"	"GMNN"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"Orphanet:2554"	"Orphanet:2554"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17493"	"GMNN"	"Orphanet:2554"	"Ear-patella-short stature syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26637980[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23638"	"2021-09-14"
"GENCC_000110-HGNC_5244-Orphanet_260305-HP_0000007-GENCC_100009"	"HGNC:5244"	"HSPA9"	"MONDO:0016828"	"autosomal recessive sideroblastic anemia"	"Orphanet:260305"	"Orphanet:260305"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5244"	"HSPA9"	"Orphanet:260305"	"Autosomal recessive sideroblastic anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26491070[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23644"	"2021-09-14"
"GENCC_000110-HGNC_5244-Orphanet_496751-HP_0000007-GENCC_100009"	"HGNC:5244"	"HSPA9"	"MONDO:0014801"	"even-plus syndrome"	"Orphanet:496751"	"Orphanet:496751"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5244"	"HSPA9"	"Orphanet:496751"	"EVEN-plus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26598328[PMID]_10424819[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23644"	"2021-09-14"
"GENCC_000110-HGNC_15804-Orphanet_98973-HP_0000006-GENCC_100009"	"HGNC:15804"	"OVOL2"	"MONDO:0020364"	"posterior polymorphous corneal dystrophy"	"Orphanet:98973"	"Orphanet:98973"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15804"	"OVOL2"	"Orphanet:98973"	"Posterior polymorphous corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26749309[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23650"	"2021-09-14"
"GENCC_000110-HGNC_15804-Orphanet_98975-HP_0000006-GENCC_100009"	"HGNC:15804"	"OVOL2"	"MONDO:0020365"	"congenital hereditary endothelial dystrophy type I"	"Orphanet:98975"	"Orphanet:98975"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15804"	"OVOL2"	"Orphanet:98975"	"Congenital hereditary endothelial dystrophy type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26749309[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23650"	"2021-09-14"
"GENCC_000110-HGNC_3169-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:3169"	"S1PR2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3169"	"S1PR2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26805784[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23669"	"2021-09-14"
"GENCC_000110-HGNC_23594-Orphanet_2828-HP_0000007-GENCC_100009"	"HGNC:23594"	"VPS13C"	"MONDO:0017279"	"young-onset Parkinson disease"	"Orphanet:2828"	"Orphanet:2828"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23594"	"VPS13C"	"Orphanet:2828"	"Young-onset Parkinson disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26942284[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23672"	"2021-09-14"
"GENCC_000110-HGNC_11073-Orphanet_103908-HP_0000006-GENCC_100009"	"HGNC:11073"	"SLC9A3"	"MONDO:0015170"	"congenital sodium diarrhea"	"Orphanet:103908"	"Orphanet:103908"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11073"	"SLC9A3"	"Orphanet:103908"	"Congenital sodium diarrhea"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26358773[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23673"	"2021-09-14"
"GENCC_000110-HGNC_2294-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:2294"	"COX8A"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2294"	"COX8A"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26685157[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23674"	"2021-09-14"
"GENCC_000110-HGNC_18505-Orphanet_157798-HP_0000006-GENCC_100009"	"HGNC:18505"	"RNF43"	"MONDO:0015524"	"hyperplastic polyposis syndrome"	"Orphanet:157798"	"Orphanet:157798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18505"	"RNF43"	"Orphanet:157798"	"Serrated polyposis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27081527[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23681"	"2021-09-14"
"GENCC_000110-HGNC_8847-Orphanet_164736-HP_0000006-GENCC_100009"	"HGNC:8847"	"PER3"	"MONDO:0015609"	"advanced sleep phase syndrome"	"Orphanet:164736"	"Orphanet:164736"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8847"	"PER3"	"Orphanet:164736"	"Familial advanced sleep-phase syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26903630[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23682"	"2021-09-14"
"GENCC_000110-HGNC_19263-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:19263"	"LMAN2L"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19263"	"LMAN2L"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26566883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23683"	"2021-09-14"
"GENCC_000110-HGNC_3087-Orphanet_3107-HP_0000006-GENCC_100009"	"HGNC:3087"	"DVL3"	"MONDO:0008389"	"autosomal dominant Robinow syndrome"	"Orphanet:3107"	"Orphanet:3107"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3087"	"DVL3"	"Orphanet:3107"	"Autosomal dominant Robinow syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26924530[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23684"	"2021-09-14"
"GENCC_000110-HGNC_28958-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:28958"	"NUP93"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28958"	"NUP93"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26878725[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23685"	"2021-09-14"
"GENCC_000110-HGNC_18658-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:18658"	"NUP205"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18658"	"NUP205"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26878725[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23686"	"2021-09-14"
"GENCC_000110-HGNC_1073-Orphanet_447792-HP_0000006-GENCC_100009"	"HGNC:1073"	"BMP6"	"MONDO:0014225"	"hemochromatosis type 5"	"Orphanet:447792"	"Orphanet:447792"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1073"	"BMP6"	"Orphanet:447792"	"Hemochromatosis type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26582087[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23687"	"2021-09-14"
"GENCC_000110-HGNC_21606-Orphanet_447784-HP_0000007-GENCC_100009"	"HGNC:21606"	"MPC1"	"MONDO:0013877"	"mitochondrial pyruvate carrier deficiency"	"Orphanet:447784"	"Orphanet:447784"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21606"	"MPC1"	"Orphanet:447784"	"Mitochondrial pyruvate carrier deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22628558[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23689"	"2021-09-14"
"GENCC_000110-HGNC_1424-Orphanet_448010-HP_0000007-GENCC_100009"	"HGNC:1424"	"CAD"	"MONDO:0014647"	"developmental and epileptic encephalopathy, 50"	"Orphanet:448010"	"Orphanet:448010"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1424"	"CAD"	"Orphanet:448010"	"CAD-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25678555[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23690"	"2021-09-14"
"GENCC_000110-HGNC_11071-Orphanet_448251-HP_0000007-GENCC_100009"	"HGNC:11071"	"SLC9A1"	"MONDO:0014572"	"Lichtenstein-Knorr syndrome"	"Orphanet:448251"	"Orphanet:448251"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11071"	"SLC9A1"	"Orphanet:448251"	"Progressive autosomal recessive ataxia-deafness syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25205112[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23694"	"2021-09-14"
"GENCC_000110-HGNC_17264-Orphanet_1200-HP_0000007-GENCC_100009"	"HGNC:17264"	"POLR1A"	"MONDO:0012064"	"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	"Orphanet:1200"	"Orphanet:1200"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17264"	"POLR1A"	"Orphanet:1200"	"Burn-McKeown syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25913037[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23700"	"2021-09-14"
"GENCC_000110-HGNC_29812-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:29812"	"DCPS"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29812"	"DCPS"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25701870[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23701"	"2021-09-14"
"GENCC_000110-HGNC_18150-Orphanet_447974-HP_0000007-GENCC_100009"	"HGNC:18150"	"MYO18B"	"MONDO:0014689"	"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	"Orphanet:447974"	"Orphanet:447974"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18150"	"MYO18B"	"Orphanet:447974"	"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25748484[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23702"	"2021-09-14"
"GENCC_000110-HGNC_10942-Orphanet_447997-HP_0000007-GENCC_100009"	"HGNC:10942"	"SLC1A4"	"MONDO:0014725"	"spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"	"Orphanet:447997"	"Orphanet:447997"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10942"	"SLC1A4"	"Orphanet:447997"	"Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25930971[PMID]_26041762[PMID]_26138499[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23706"	"2021-09-14"
"GENCC_000110-HGNC_3826-Orphanet_447740-HP_0000007-GENCC_100009"	"HGNC:3826"	"FPR1"	"MONDO:0018643"	"susceptibility to localized juvenile periodontitis"	"Orphanet:447740"	"Orphanet:447740"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3826"	"FPR1"	"Orphanet:447740"	"Susceptibility to localized juvenile periodontitis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"19722801[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23728"	"2021-09-14"
"GENCC_000110-HGNC_6853-Orphanet_447731-HP_0000007-GENCC_100009"	"HGNC:6853"	"MAP3K14"	"MONDO:0018642"	"NIK deficiency"	"Orphanet:447731"	"Orphanet:447731"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6853"	"MAP3K14"	"Orphanet:447731"	"NIK deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25406581[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23729"	"2021-09-14"
"GENCC_000110-HGNC_2988-Orphanet_447737-HP_0000007-GENCC_100009"	"HGNC:2988"	"DOCK2"	"MONDO:0014637"	"DOCK2 deficiency"	"Orphanet:447737"	"Orphanet:447737"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2988"	"DOCK2"	"Orphanet:447737"	"DOCK2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26083206[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23730"	"2021-09-14"
"GENCC_000110-HGNC_2938-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:2938"	"DMXL2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2938"	"DMXL2"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31688942[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23734"	"2021-09-14"
"GENCC_000110-HGNC_2938-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:2938"	"DMXL2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2938"	"DMXL2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27657680[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23734"	"2021-09-14"
"GENCC_000110-HGNC_2938-Orphanet_453533-HP_0000007-GENCC_100009"	"HGNC:2938"	"DMXL2"	"MONDO:0014497"	"polyendocrine-polyneuropathy syndrome"	"Orphanet:453533"	"Orphanet:453533"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2938"	"DMXL2"	"Orphanet:453533"	"Polyendocrine-polyneuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25248098[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23734"	"2021-09-14"
"GENCC_000110-HGNC_24265-Orphanet_456312-HP_0000007-GENCC_100009"	"HGNC:24265"	"PTRH2"	"MONDO:0014554"	"infantile multisystem neurologic-endocrine-pancreatic disease"	"Orphanet:456312"	"Orphanet:456312"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24265"	"PTRH2"	"Orphanet:456312"	"Infantile multisystem neurologic-endocrine-pancreatic disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25574476[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23735"	"2021-09-14"
"GENCC_000110-HGNC_25613-Orphanet_453521-HP_0000007-GENCC_100009"	"HGNC:25613"	"CWF19L1"	"MONDO:0014503"	"autosomal recessive spinocerebellar ataxia 17"	"Orphanet:453521"	"Orphanet:453521"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25613"	"CWF19L1"	"Orphanet:453521"	"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25361784[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23736"	"2021-09-14"
"GENCC_000110-HGNC_20739-Orphanet_456333-HP_0000006-GENCC_100009"	"HGNC:20739"	"IPMK"	"MONDO:0018698"	"hereditary neuroendocrine tumor of small intestine"	"Orphanet:456333"	"Orphanet:456333"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20739"	"IPMK"	"Orphanet:456333"	"Hereditary neuroendocrine tumor of small intestine"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25865046[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23738"	"2021-09-14"
"GENCC_000110-HGNC_2093-Orphanet_453510-HP_0000007-GENCC_100009"	"HGNC:2093"	"CLTCL1"	"MONDO:0018682"	"congenital insensitivity to pain with severe intellectual disability"	"Orphanet:453510"	"Orphanet:453510"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2093"	"CLTCL1"	"Orphanet:453510"	"Congenital insensitivity to pain with severe intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26068709[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23739"	"2021-09-14"
"GENCC_000110-HGNC_5044-Orphanet_453504-HP_0000006-GENCC_100009"	"HGNC:5044"	"HNRNPK"	"MONDO:0014700"	"Au-Kline syndrome"	"Orphanet:453504"	"Orphanet:453504"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5044"	"HNRNPK"	"Orphanet:453504"	"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26173930[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23740"	"2021-09-14"
"GENCC_000110-HGNC_8028-Orphanet_454840-HP_0000007-GENCC_100009"	"HGNC:8028"	"NTHL1"	"MONDO:0014630"	"familial adenomatous polyposis 3"	"Orphanet:454840"	"Orphanet:454840"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8028"	"NTHL1"	"Orphanet:454840"	"NTHL1-related attenuated familial adenomatous polyposis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25938944[PMID]_26559593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23744"	"2021-09-14"
"GENCC_000110-HGNC_23801-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:23801"	"SIPA1L3"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23801"	"SIPA1L3"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25804400[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23745"	"2021-09-14"
"GENCC_000110-HGNC_4651-Orphanet_33364-HP_0000007-GENCC_100009"	"HGNC:4651"	"GTF2E2"	"MONDO:0018053"	"trichothiodystrophy"	"Orphanet:33364"	"Orphanet:33364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4651"	"GTF2E2"	"Orphanet:33364"	"Trichothiodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26996949[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23765"	"2021-09-14"
"GENCC_000110-HGNC_25523-Orphanet_99807-HP_0000007-GENCC_100009"	"HGNC:25523"	"CCDC88A"	"MONDO:0020495"	"PEHO-like syndrome"	"Orphanet:99807"	"Orphanet:99807"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25523"	"CCDC88A"	"Orphanet:99807"	"PEHO-like syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26917597[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23766"	"2021-09-14"
"GENCC_000110-HGNC_7154-Orphanet_69063-HP_0000007-GENCC_100009"	"HGNC:7154"	"MME"	"MONDO:0019068"	"congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization"	"Orphanet:69063"	"Orphanet:69063"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7154"	"MME"	"Orphanet:69063"	"Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"15464186[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23768"	"2021-09-14"
"GENCC_000110-HGNC_7154-Orphanet_495274-HP_0000007-GENCC_100009"	"HGNC:7154"	"MME"	"MONDO:0044640"	"Charcot-Marie-Tooth disease type 2T"	"Orphanet:495274"	"Orphanet:495274"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7154"	"MME"	"Orphanet:495274"	"Charcot-Marie-Tooth disease type 2T"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26991897[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23768"	"2021-09-14"
"GENCC_000110-HGNC_7154-Orphanet_497757-HP_0000006-GENCC_100009"	"HGNC:7154"	"MME"	"MONDO:0044657"	"MME-related autosomal dominant Charcot Marie Tooth disease type 2"	"Orphanet:497757"	"Orphanet:497757"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7154"	"MME"	"Orphanet:497757"	"MME-related autosomal dominant Charcot Marie Tooth disease type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27588448[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23768"	"2021-09-14"
"GENCC_000110-HGNC_7154-Orphanet_497764-HP_0000006-GENCC_100009"	"HGNC:7154"	"MME"	"MONDO:0014867"	"spinocerebellar ataxia 43"	"Orphanet:497764"	"Orphanet:497764"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7154"	"MME"	"Orphanet:497764"	"Spinocerebellar ataxia type 43"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27583304[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23768"	"2021-09-14"
"GENCC_000110-HGNC_16353-Orphanet_93604-HP_0000007-GENCC_100009"	"HGNC:16353"	"MAGED2"	"MONDO:0100343"	"antenatal Bartter syndrome"	"Orphanet:93604"	"Orphanet:93604"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16353"	"MAGED2"	"Orphanet:93604"	"Antenatal Bartter syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27120771[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23774"	"2021-09-14"
"GENCC_000110-HGNC_7611-Orphanet_994-HP_0000007-GENCC_100009"	"HGNC:7611"	"MYOD1"	"MONDO:0100101"	"fetal akinesia deformation sequence 1"	"Orphanet:994"	"Orphanet:994"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7611"	"MYOD1"	"Orphanet:994"	"Fetal akinesia deformation sequence"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26733463[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23775"	"2021-09-14"
"GENCC_000110-HGNC_6944-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:6944"	"MCM2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6944"	"MCM2"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26196677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23776"	"2021-09-14"
"GENCC_000110-HGNC_1632-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:1632"	"CD164"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1632"	"CD164"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26197441[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23777"	"2021-09-14"
"GENCC_000110-HGNC_1718-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:1718"	"CDC14A"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1718"	"CDC14A"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27259055[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23778"	"2021-09-14"
"GENCC_000110-HGNC_19237-Orphanet_168454-HP_0000007-GENCC_100009"	"HGNC:19237"	"NANS"	"MONDO:0012495"	"spondyloepimetaphyseal dysplasia, Genevieve type"	"Orphanet:168454"	"Orphanet:168454"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19237"	"NANS"	"Orphanet:168454"	"Spondyloepimetaphyseal dysplasia, GeneviÞve type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27213289[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23779"	"2021-09-14"
"GENCC_000110-HGNC_19693-Orphanet_457185-HP_0000007-GENCC_100009"	"HGNC:19693"	"COQ4"	"MONDO:0014562"	"neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"	"Orphanet:457185"	"Orphanet:457185"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19693"	"COQ4"	"Orphanet:457185"	"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25658047[PMID]_26185144[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23793"	"2021-09-14"
"GENCC_000110-HGNC_19857-Orphanet_457406-HP_0000007-GENCC_100009"	"HGNC:19857"	"ISCA2"	"MONDO:0014611"	"multiple mitochondrial dysfunctions syndrome 4"	"Orphanet:457406"	"Orphanet:457406"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19857"	"ISCA2"	"Orphanet:457406"	"Multiple mitochondrial dysfunctions syndrome type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25539947[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23794"	"2021-09-14"
"GENCC_000110-HGNC_12831-Orphanet_436182-HP_0000007-GENCC_100009"	"HGNC:12831"	"XRCC4"	"MONDO:0018575"	"microcephalic primordial dwarfism-insulin resistance syndrome"	"Orphanet:436182"	"Orphanet:436182"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12831"	"XRCC4"	"Orphanet:436182"	"Microcephalic primordial dwarfism-insulin resistance syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25728776[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23795"	"2021-09-14"
"GENCC_000110-HGNC_14499-Orphanet_457223-HP_0000007-GENCC_100009"	"HGNC:14499"	"MRPS7"	"MONDO:0018706"	"syndromic sensorineural deafness due to combined oxidative phosphorylation defect"	"Orphanet:457223"	"Orphanet:457223"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14499"	"MRPS7"	"Orphanet:457223"	"Syndromic sensorineural deafness due to combined oxidative phosphorylation defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25556185[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23796"	"2021-09-14"
"GENCC_000110-HGNC_9302-Orphanet_457284-HP_0000006-GENCC_100009"	"HGNC:9302"	"PPP2R1A"	"MONDO:0014605"	"Houge-Janssens syndrome 2"	"Orphanet:457284"	"Orphanet:457284"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9302"	"PPP2R1A"	"Orphanet:457284"	"Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26168268[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23797"	"2021-09-14"
"GENCC_000110-HGNC_9312-Orphanet_457279-HP_0000006-GENCC_100009"	"HGNC:9312"	"PPP2R5D"	"MONDO:0014602"	"Hogue-Janssens syndrome 1"	"Orphanet:457279"	"Orphanet:457279"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9312"	"PPP2R5D"	"Orphanet:457279"	"Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26168268[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23798"	"2021-09-14"
"GENCC_000110-HGNC_19073-Orphanet_457240-HP_0001417-GENCC_100009"	"HGNC:19073"	"THOC2"	"MONDO:0010496"	"X-linked intellectual disability-short stature-overweight syndrome"	"Orphanet:457240"	"Orphanet:457240"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:19073"	"THOC2"	"Orphanet:457240"	"X-linked intellectual disability-short stature-overweight syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26166480[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23801"	"2021-09-14"
"GENCC_000110-HGNC_4867-Orphanet_457359-HP_0000007-GENCC_100009"	"HGNC:4867"	"HERC1"	"MONDO:0018710"	"megalencephaly-severe kyphoscoliosis-overgrowth syndrome"	"Orphanet:457359"	"Orphanet:457359"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4867"	"HERC1"	"Orphanet:457359"	"Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26138117[PMID]_27108999[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23803"	"2021-09-14"
"GENCC_000110-HGNC_26887-Orphanet_457378-HP_0000007-GENCC_100009"	"HGNC:26887"	"TAPT1"	"MONDO:0014821"	"complex lethal osteochondrodysplasia"	"Orphanet:457378"	"Orphanet:457378"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26887"	"TAPT1"	"Orphanet:457378"	"Complex lethal osteochondrodysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26365339[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23805"	"2021-09-14"
"GENCC_000110-HGNC_29420-Orphanet_457395-HP_0000007-GENCC_100009"	"HGNC:29420"	"RSPRY1"	"MONDO:0014748"	"progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"	"Orphanet:457395"	"Orphanet:457395"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29420"	"RSPRY1"	"Orphanet:457395"	"Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26365341[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23806"	"2021-09-14"
"GENCC_000110-HGNC_20311-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:20311"	"CHAMP1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20311"	"CHAMP1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26340335[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23807"	"2021-09-14"
"GENCC_000110-HGNC_18119-Orphanet_457351-HP_0000007-GENCC_100009"	"HGNC:18119"	"AFG2A"	"MONDO:0014698"	"microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"	"Orphanet:457351"	"Orphanet:457351"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18119"	"SPATA5"	"Orphanet:457351"	"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26299366[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23808"	"2021-09-14"
"GENCC_000110-HGNC_9173-Orphanet_85453-HP_0001417-GENCC_100009"	"HGNC:9173"	"POLA1"	"MONDO:0010523"	"X-linked reticulate pigmentary disorder"	"Orphanet:85453"	"Orphanet:85453"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9173"	"POLA1"	"Orphanet:85453"	"X-linked reticulate pigmentary disorder"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27019227[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23828"	"2021-09-14"
"GENCC_000110-HGNC_9173-Orphanet_163976-HP_0001417-GENCC_100009"	"HGNC:9173"	"POLA1"	"MONDO:0015601"	"X-linked intellectual disability, van Esch type"	"Orphanet:163976"	"Orphanet:163976"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:9173"	"POLA1"	"Orphanet:163976"	"X-linked intellectual disability, Van Esch type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31006512[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23828"	"2021-09-14"
"GENCC_000110-HGNC_14951-Orphanet_391408-HP_0000007-GENCC_100009"	"HGNC:14951"	"PPP1R15B"	"MONDO:0018320"	"primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"	"Orphanet:391408"	"Orphanet:391408"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14951"	"PPP1R15B"	"Orphanet:391408"	"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26159176[PMID]_26307080[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23830"	"2021-09-14"
"GENCC_000110-HGNC_3003-Orphanet_459061-HP_0000007-GENCC_100009"	"HGNC:3003"	"DPH1"	"MONDO:0014824"	"craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"	"Orphanet:459061"	"Orphanet:459061"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3003"	"DPH1"	"Orphanet:459061"	"Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26220823[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23831"	"2021-09-14"
"GENCC_000110-HGNC_6783-Orphanet_459056-HP_0000007-GENCC_100009"	"HGNC:6783"	"MAG"	"MONDO:0014729"	"hereditary spastic paraplegia 75"	"Orphanet:459056"	"Orphanet:459056"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6783"	"MAG"	"Orphanet:459056"	"Autosomal recessive spastic paraplegia type 75"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26179919[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23834"	"2021-09-14"
"GENCC_000110-HGNC_12335-Orphanet_458798-HP_0000006-GENCC_100009"	"HGNC:12335"	"TRPC3"	"MONDO:0014626"	"spinocerebellar ataxia type 41"	"Orphanet:458798"	"Orphanet:458798"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12335"	"TRPC3"	"Orphanet:458798"	"Spinocerebellar ataxia type 41"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25477146[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23836"	"2021-09-14"
"GENCC_000110-HGNC_1394-Orphanet_458803-HP_0000006-GENCC_100009"	"HGNC:1394"	"CACNA1G"	"MONDO:0014776"	"spinocerebellar ataxia type 42"	"Orphanet:458803"	"Orphanet:458803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1394"	"CACNA1G"	"Orphanet:458803"	"Spinocerebellar ataxia type 42"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26456284[PMID]_26715324[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23838"	"2021-09-14"
"GENCC_000110-HGNC_1349-Orphanet_2585-HP_0000006-GENCC_100009"	"HGNC:1349"	"SAMD9L"	"MONDO:0008038"	"ataxia-pancytopenia syndrome"	"Orphanet:2585"	"Orphanet:2585"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1349"	"SAMD9L"	"Orphanet:2585"	"Ataxia-pancytopenia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27259050[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23881"	"2021-09-14"
"GENCC_000110-HGNC_26147-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:26147"	"AGBL5"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26147"	"AGBL5"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26720455[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23882"	"2021-09-14"
"GENCC_000110-HGNC_18591-Orphanet_464366-HP_0000007-GENCC_100009"	"HGNC:18591"	"NEK9"	"MONDO:0014870"	"NEK9-related lethal skeletal dysplasia"	"Orphanet:464366"	"Orphanet:464366"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18591"	"NEK9"	"Orphanet:464366"	"NEK9-related lethal skeletal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26908619[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23883"	"2021-09-14"
"GENCC_000110-HGNC_10778-Orphanet_3005-HP_0000007-GENCC_100009"	"HGNC:10778"	"SFRP4"	"MONDO:0009943"	"Pyle disease"	"Orphanet:3005"	"Orphanet:3005"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10778"	"SFRP4"	"Orphanet:3005"	"Pyle disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27355534[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23890"	"2021-09-14"
"GENCC_000110-HGNC_16791-Orphanet_2524-HP_0000007-GENCC_100009"	"HGNC:16791"	"TSEN15"	"MONDO:0016759"	"pontocerebellar hypoplasia type 2"	"Orphanet:2524"	"Orphanet:2524"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16791"	"TSEN15"	"Orphanet:2524"	"Pontocerebellar hypoplasia type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27392077[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23891"	"2021-09-14"
"GENCC_000110-HGNC_9350-Orphanet_466729-HP_0000006-GENCC_100009"	"HGNC:9350"	"PRDM6"	"MONDO:0018758"	"familial patent arterial duct"	"Orphanet:466729"	"Orphanet:466729"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9350"	"PRDM6"	"Orphanet:466729"	"Familial patent arterial duct"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27181681[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23896"	"2021-09-14"
"GENCC_000110-HGNC_30765-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:30765"	"TNIK"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30765"	"TNIK"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27106596[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23899"	"2021-09-14"
"GENCC_000110-HGNC_1044-Orphanet_93349-HP_0001417-GENCC_100009"	"HGNC:1044"	"BGN"	"MONDO:0010248"	"X-linked spondyloepimetaphyseal dysplasia"	"Orphanet:93349"	"Orphanet:93349"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:1044"	"BGN"	"Orphanet:93349"	"X-linked spondyloepimetaphyseal dysplasia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27236923[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23903"	"2021-09-14"
"GENCC_000110-HGNC_11119-Orphanet_388-HP_0000006-GENCC_100009"	"HGNC:11119"	"SMO"	"MONDO:0018309"	"Hirschsprung disease"	"Orphanet:388"	"Orphanet:388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11119"	"SMO"	"Orphanet:388"	"Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32413283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23908"	"2021-09-14"
"GENCC_000110-HGNC_4138-Orphanet_730-HP_0000006-GENCC_100009"	"HGNC:4138"	"GANAB"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"Orphanet:730"	"Orphanet:730"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4138"	"GANAB"	"Orphanet:730"	"Autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27259053[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23911"	"2021-09-14"
"GENCC_000110-HGNC_2022-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:2022"	"CLCN4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:2022"	"CLCN4"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25644381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23943"	"2021-09-14"
"GENCC_000110-HGNC_1739-Orphanet_2554-HP_0000006-GENCC_100009"	"HGNC:1739"	"CDC45"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"Orphanet:2554"	"Orphanet:2554"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1739"	"CDC45"	"Orphanet:2554"	"Ear-patella-short stature syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27374770[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23944"	"2021-09-14"
"GENCC_000110-HGNC_25799-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:25799"	"GUF1"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25799"	"GUF1"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26486472[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23945"	"2021-09-14"
"GENCC_000110-HGNC_26582-Orphanet_371364-HP_0000007-GENCC_100009"	"HGNC:26582"	"UNC80"	"MONDO:0014176"	"hypotonia, infantile, with psychomotor retardation and characteristic facies"	"Orphanet:371364"	"Orphanet:371364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26582"	"UNC80"	"Orphanet:371364"	"Hypotonia-speech impairment-severe cognitive delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26708751[PMID]_26708753[PMID]_26545877[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"23994"	"2021-09-14"
"GENCC_000110-HGNC_30718-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:30718"	"DNAJB13"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30718"	"DNAJB13"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27486783[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24007"	"2021-09-14"
"GENCC_000110-HGNC_25280-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:25280"	"ODAD4"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25280"	"ODAD4"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27486780[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24008"	"2021-09-14"
"GENCC_000110-HGNC_1985-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:1985"	"CIT"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1985"	"CIT"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27453578[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24009"	"2021-09-14"
"GENCC_000110-HGNC_21244-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:21244"	"LEMD2"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21244"	"LEMD2"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26788539[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24014"	"2021-09-14"
"GENCC_000110-HGNC_21244-Orphanet_441447-HP_0000006-GENCC_100009"	"HGNC:21244"	"LEMD2"	"MONDO:0018610"	"early-onset posterior subcapsular cataract"	"Orphanet:441447"	"Orphanet:441447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21244"	"LEMD2"	"Orphanet:441447"	"Early-onset posterior subcapsular cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26788539[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24014"	"2021-09-14"
"GENCC_000110-HGNC_24969-Orphanet_98820-HP_0000006-GENCC_100009"	"HGNC:24969"	"NPRL2"	"MONDO:0020310"	"familial focal epilepsy with variable foci"	"Orphanet:98820"	"Orphanet:98820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24969"	"NPRL2"	"Orphanet:98820"	"Familial focal epilepsy with variable foci"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26505888[PMID]_27173016[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24057"	"2021-09-14"
"GENCC_000110-HGNC_14124-Orphanet_98820-HP_0000006-GENCC_100009"	"HGNC:14124"	"NPRL3"	"MONDO:0020310"	"familial focal epilepsy with variable foci"	"Orphanet:98820"	"Orphanet:98820"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14124"	"NPRL3"	"Orphanet:98820"	"Familial focal epilepsy with variable foci"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26505888[PMID]_27173016[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24058"	"2021-09-14"
"GENCC_000110-HGNC_18829-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:18829"	"KLHL10"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18829"	"KLHL10"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17047026[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24059"	"2021-09-14"
"GENCC_000110-HGNC_9965-Orphanet_494344-HP_0000006-GENCC_100009"	"HGNC:9965"	"RERE"	"MONDO:0014857"	"neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"	"Orphanet:494344"	"Orphanet:494344"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9965"	"RERE"	"Orphanet:494344"	"RERE-related neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27087320[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24070"	"2021-09-14"
"GENCC_000110-HGNC_30883-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:30883"	"TMEM126B"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30883"	"TMEM126B"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27374773[PMID]_27374774[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24095"	"2021-09-14"
"GENCC_000110-HGNC_17233-Orphanet_3019-HP_0000007-GENCC_100009"	"HGNC:17233"	"ELMO2"	"MONDO:0009954"	"Ramon syndrome"	"Orphanet:3019"	"Orphanet:3019"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17233"	"ELMO2"	"Orphanet:3019"	"Ramon syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29095483[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24100"	"2021-09-14"
"GENCC_000110-HGNC_17233-Orphanet_140436-HP_0000007-GENCC_100009"	"HGNC:17233"	"ELMO2"	"MONDO:0011744"	"primary intraosseous venous malformation"	"Orphanet:140436"	"Orphanet:140436"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17233"	"ELMO2"	"Orphanet:140436"	"Primary intraosseous venous malformation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27476657[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24100"	"2021-09-14"
"GENCC_000110-HGNC_8952-Orphanet_289586-HP_0000007-GENCC_100009"	"HGNC:8952"	"SERPINB8"	"MONDO:0017339"	"exfoliative ichthyosis"	"Orphanet:289586"	"Orphanet:289586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8952"	"SERPINB8"	"Orphanet:289586"	"Exfoliative ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27476651[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24101"	"2021-09-14"
"GENCC_000110-HGNC_4516-Orphanet_48-HP_0000007-GENCC_100009"	"HGNC:4516"	"ADGRG2"	"MONDO:0018801"	"congenital bilateral absence of vas deferens"	"Orphanet:48"	"Orphanet:48"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4516"	"ADGRG2"	"Orphanet:48"	"Congenital bilateral absence of vas deferens"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27476656[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24124"	"2021-09-14"
"GENCC_000110-HGNC_6859-Orphanet_1826-HP_0000006-GENCC_100009"	"HGNC:6859"	"MAP3K7"	"MONDO:0015942"	"frontometaphyseal dysplasia"	"Orphanet:1826"	"Orphanet:1826"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6859"	"MAP3K7"	"Orphanet:1826"	"Frontometaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27426733[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24131"	"2021-09-14"
"GENCC_000110-HGNC_6859-Orphanet_3238-HP_0000006-GENCC_100009"	"HGNC:6859"	"MAP3K7"	"MONDO:0008005"	"cardiospondylocarpofacial syndrome"	"Orphanet:3238"	"Orphanet:3238"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6859"	"MAP3K7"	"Orphanet:3238"	"Cardiospondylocarpofacial syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27426734[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24131"	"2021-09-14"
"GENCC_000110-HGNC_25557-Orphanet_464288-HP_0000007-GENCC_100009"	"HGNC:25557"	"PRMT7"	"MONDO:0014944"	"short stature-brachydactyly-obesity-global developmental delay syndrome"	"Orphanet:464288"	"Orphanet:464288"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25557"	"PRMT7"	"Orphanet:464288"	"Short stature-brachydactyly-obesity-global developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26437029[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24133"	"2021-09-14"
"GENCC_000110-HGNC_6664-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:6664"	"LOX"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6664"	"LOX"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26838787[PMID]_27432961[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24134"	"2021-09-14"
"GENCC_000110-HGNC_3668-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:3668"	"FGF12"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3668"	"FGF12"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27164707[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24135"	"2021-09-14"
"GENCC_000110-HGNC_819-Orphanet_464756-HP_0000007-GENCC_100009"	"HGNC:819"	"ATP4A"	"MONDO:0018742"	"familial gastric type 1 neuroendocrine tumor"	"Orphanet:464756"	"Orphanet:464756"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:819"	"ATP4A"	"Orphanet:464756"	"Familial gastric type 1 neuroendocrine tumor"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25678551[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24208"	"2021-09-14"
"GENCC_000110-HGNC_7165-Orphanet_464760-HP_0000006-GENCC_100009"	"HGNC:7165"	"MMP19"	"MONDO:0012687"	"familial cavitary optic disk anomaly"	"Orphanet:464760"	"Orphanet:464760"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7165"	"MMP19"	"Orphanet:464760"	"Familial cavitary optic disc anomaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25581579[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24213"	"2021-09-14"
"GENCC_000110-HGNC_9647-Orphanet_99141-HP_0000007-GENCC_100009"	"HGNC:9647"	"PTPN14"	"MONDO:0013324"	"lymphedema-posterior choanal atresia syndrome"	"Orphanet:99141"	"Orphanet:99141"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9647"	"PTPN14"	"Orphanet:99141"	"Lymphedema-posterior choanal atresia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20826270[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24217"	"2021-09-14"
"GENCC_000110-HGNC_29007-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:29007"	"FRMPD4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:29007"	"FRMPD4"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25644381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24240"	"2021-09-14"
"GENCC_000110-HGNC_13429-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:13429"	"RLIM"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13429"	"RLIM"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25644381[PMID]_29728705[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24245"	"2021-09-14"
"GENCC_000110-HGNC_13486-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:13486"	"USP27X"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:13486"	"USP27X"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25644381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24247"	"2021-09-14"
"GENCC_000110-HGNC_23230-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:23230"	"UBA5"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23230"	"UBA5"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27545674[PMID]_27545681[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24264"	"2021-09-14"
"GENCC_000110-HGNC_4588-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:4588"	"GRIN2D"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4588"	"GRIN2D"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27616483[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24265"	"2021-09-14"
"GENCC_000110-HGNC_1974-Orphanet_465824-HP_0000007-GENCC_100009"	"HGNC:1974"	"CHUK"	"MONDO:0013334"	"cocoon syndrome"	"Orphanet:465824"	"Orphanet:465824"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1974"	"CHUK"	"Orphanet:465824"	"Fetal encasement syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"20961246[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24278"	"2021-09-14"
"GENCC_000110-HGNC_20461-Orphanet_101063-HP_0000006-GENCC_100009"	"HGNC:20461"	"NME7"	"MONDO:0010029"	"situs inversus"	"Orphanet:101063"	"Orphanet:101063"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20461"	"NME7"	"Orphanet:101063"	"Situs inversus totalis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27060491[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24292"	"2021-09-14"
"GENCC_000110-HGNC_51-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:51"	"ABCC1"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:51"	"ABCC1"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31273342[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24316"	"2021-09-14"
"GENCC_000110-HGNC_29422-Orphanet_101063-HP_0000006-GENCC_100009"	"HGNC:29422"	"ANKS3"	"MONDO:0010029"	"situs inversus"	"Orphanet:101063"	"Orphanet:101063"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29422"	"ANKS3"	"Orphanet:101063"	"Situs inversus totalis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27417436[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24344"	"2021-09-14"
"GENCC_000110-HGNC_18037-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:18037"	"ARID2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18037"	"ARID2"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28124119[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24352"	"2021-09-14"
"GENCC_000110-HGNC_25657-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:25657"	"BCORL1"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25657"	"BCORL1"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30941876[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24363"	"2021-09-14"
"GENCC_000110-HGNC_13652-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:13652"	"BDP1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13652"	"BDP1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24312468[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24364"	"2021-09-14"
"GENCC_000110-HGNC_1152-Orphanet_476084-HP_0000007-GENCC_100009"	"HGNC:1152"	"POPDC1"	"MONDO:0014782"	"autosomal recessive limb-girdle muscular dystrophy type 2X"	"Orphanet:476084"	"Orphanet:476084"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1152"	"BVES"	"Orphanet:476084"	"BVES-related limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26642364[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24378"	"2021-09-14"
"GENCC_000110-HGNC_33702-Orphanet_67047-HP_0000007-GENCC_100009"	"HGNC:33702"	"MICOS13"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"Orphanet:67047"	"Orphanet:67047"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33702"	"MICOS13"	"Orphanet:67047"	"3-methylglutaconic aciduria type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27485409[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24380"	"2021-09-14"
"GENCC_000110-HGNC_1260-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:1260"	"CFAP410"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1260"	"CFAP410"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27455348_26974433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24382"	"2021-09-14"
"GENCC_000110-HGNC_1260-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:1260"	"CFAP410"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1260"	"CFAP410"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23105016[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24382"	"2021-09-14"
"GENCC_000110-HGNC_1389-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:1389"	"CACNA1B"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1389"	"CACNA1B"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30982612[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24384"	"2021-09-14"
"GENCC_000110-HGNC_25695-Orphanet_477774-HP_0000007-GENCC_100009"	"HGNC:25695"	"CARS2"	"MONDO:0014728"	"combined oxidative phosphorylation defect type 27"	"Orphanet:477774"	"Orphanet:477774"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25695"	"CARS2"	"Orphanet:477774"	"Combined oxidative phosphorylation defect type 27"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25787132[PMID]_25361775[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24388"	"2021-09-14"
"GENCC_000110-HGNC_28178-Orphanet_468684-HP_0000007-GENCC_100009"	"HGNC:28178"	"VMA22"	"MONDO:0014789"	"CCDC115-CDG"	"Orphanet:468684"	"Orphanet:468684"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28178"	"CCDC115"	"Orphanet:468684"	"CCDC115-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26833332[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24391"	"2021-09-14"
"GENCC_000110-HGNC_28033-Orphanet_467176-HP_0000007-GENCC_100009"	"HGNC:28033"	"CCDC174"	"MONDO:0014784"	"severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"	"Orphanet:467176"	"Orphanet:467176"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28033"	"CCDC174"	"Orphanet:467176"	"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26358778[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24392"	"2021-09-14"
"GENCC_000110-HGNC_16920-Orphanet_302-HP_0000007-GENCC_100009"	"HGNC:16920"	"CIB1"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"Orphanet:302"	"Orphanet:302"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16920"	"CIB1"	"Orphanet:302"	"Epidermodysplasia verruciformis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30068544[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24420"	"2021-09-14"
"GENCC_000110-HGNC_2515-Orphanet_1997-HP_0000006-GENCC_100009"	"HGNC:2515"	"CTNND1"	"MONDO:0007339"	"blepharocheilodontic syndrome"	"Orphanet:1997"	"Orphanet:1997"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2515"	"CTNND1"	"Orphanet:1997"	"Blepharo-cheilo-odontic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28301459[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24444"	"2021-09-14"
"GENCC_000110-HGNC_2557-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:2557"	"CUX1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2557"	"CUX1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30014507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24446"	"2021-09-14"
"GENCC_000110-HGNC_19347-Orphanet_2382-HP_0000006-GENCC_100009"	"HGNC:19347"	"CUX2"	"MONDO:0016532"	"Lennox-Gastaut syndrome"	"Orphanet:2382"	"Orphanet:2382"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19347"	"CUX2"	"Orphanet:2382"	"Lennox-Gastaut syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29630738[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24447"	"2021-09-14"
"GENCC_000110-HGNC_17211-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:17211"	"DHX38"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17211"	"DHX38"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30208423[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24463"	"2021-09-14"
"GENCC_000110-HGNC_2919-Orphanet_2440-HP_0000006-GENCC_100009"	"HGNC:2919"	"DLX6"	"MONDO:0016576"	"split hand-foot malformation"	"Orphanet:2440"	"Orphanet:2440"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2919"	"DLX6"	"Orphanet:2440"	"Isolated split hand-split foot malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28611547[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24481"	"2021-09-14"
"GENCC_000110-HGNC_3267-Orphanet_85282-HP_0001417-GENCC_100009"	"HGNC:3267"	"EIF2S3"	"MONDO:0010258"	"MEHMO syndrome"	"Orphanet:85282"	"Orphanet:85282"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3267"	"EIF2S3"	"Orphanet:85282"	"MEHMO syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28055140[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24504"	"2021-09-14"
"GENCC_000110-HGNC_28957-Orphanet_480898-HP_0000006-GENCC_100009"	"HGNC:28957"	"EMC1"	"MONDO:0018822"	"global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"	"Orphanet:480898"	"Orphanet:480898"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28957"	"EMC1"	"Orphanet:480898"	"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26942288[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24507"	"2021-09-14"
"GENCC_000110-HGNC_3415-Orphanet_247511-HP_0000006-GENCC_100009"	"HGNC:3415"	"EPO"	"MONDO:0016599"	"autosomal dominant secondary polycythemia"	"Orphanet:247511"	"Orphanet:247511"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3415"	"EPO"	"Orphanet:247511"	"Autosomal dominant secondary polycythemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29514032[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24514"	"2021-09-14"
"GENCC_000110-HGNC_5022-Orphanet_95494-HP_0000006-GENCC_100009"	"HGNC:5022"	"FOXA2"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"Orphanet:95494"	"Orphanet:95494"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:5022"	"FOXA2"	"Orphanet:95494"	"Combined pituitary hormone deficiencies, genetic forms"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30414530[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24545"	"2021-09-14"
"GENCC_000110-HGNC_4507-Orphanet_3095-HP_0000006-GENCC_100009"	"HGNC:4507"	"GABBR2"	"MONDO:0017746"	"atypical Rett syndrome"	"Orphanet:3095"	"Orphanet:3095"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4507"	"GABBR2"	"Orphanet:3095"	"Atypical Rett syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28856709[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24552"	"2021-09-14"
"GENCC_000110-HGNC_4082-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:4082"	"GABRB2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4082"	"GABRB2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24554"	"2021-09-14"
"GENCC_000110-HGNC_29682-Orphanet_565624-HP_0000007-GENCC_100009"	"HGNC:29682"	"GFM2"	"MONDO:0032726"	"combined oxidative phosphorylation deficiency 39"	"Orphanet:565624"	"Orphanet:565624"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29682"	"GFM2"	"Orphanet:565624"	"Combined oxidative phosphorylation defect type 39"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"22700954[PMID]_26016410[PMID]_29075935[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24559"	"2021-09-14"
"GENCC_000110-HGNC_28980-Orphanet_505227-HP_0000007-GENCC_100009"	"HGNC:28980"	"GINS1"	"MONDO:0044725"	"combined immunodeficiency due to GINS1 deficiency"	"Orphanet:505227"	"Orphanet:505227"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28980"	"GINS1"	"Orphanet:505227"	"Combined immunodeficiency due to GINS1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28414293[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24561"	"2021-09-14"
"GENCC_000110-HGNC_18062-Orphanet_477673-HP_0000007-GENCC_100009"	"HGNC:18062"	"GPT2"	"MONDO:0014567"	"glutamate pyruvate transaminase 2 deficiency"	"Orphanet:477673"	"Orphanet:477673"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18062"	"GPT2"	"Orphanet:477673"	"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25758935[PMID]_27601654[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24573"	"2021-09-14"
"GENCC_000110-HGNC_31042-Orphanet_1848-HP_0000007-GENCC_100009"	"HGNC:31042"	"GREB1L"	"MONDO:0015986"	"bilateral renal agenesis"	"Orphanet:1848"	"Orphanet:1848"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:31042"	"GREB1L"	"Orphanet:1848"	"Renal agenesis, bilateral"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100090[PMID]_29100091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24575"	"2021-09-14"
"GENCC_000110-HGNC_31042-Orphanet_93100-HP_0000006-GENCC_100009"	"HGNC:31042"	"GREB1L"	"MONDO:0019636"	"renal agenesis, unilateral"	"Orphanet:93100"	"Orphanet:93100"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:31042"	"GREB1L"	"Orphanet:93100"	"Renal agenesis, unilateral"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100090[PMID]_29100091[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24575"	"2021-09-14"
"GENCC_000110-HGNC_4808-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:4808"	"HAND2"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4808"	"HAND2"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30217752[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24586"	"2021-09-14"
"GENCC_000110-HGNC_4881-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:4881"	"HEY2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4881"	"HEY2"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32820247[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24594"	"2021-09-14"
"GENCC_000110-HGNC_4921-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:4921"	"HIVEP2"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4921"	"HIVEP2"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26153216[PMID]_27003583[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24600"	"2021-09-14"
"GENCC_000110-HGNC_5013-Orphanet_562509-HP_0000007-GENCC_100009"	"HGNC:5013"	"HMOX1"	"MONDO:0013536"	"heme oxygenase 1 deficiency"	"Orphanet:562509"	"Orphanet:562509"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5013"	"HMOX1"	"Orphanet:562509"	"Heme oxygenase-1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31216709[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24601"	"2021-09-14"
"GENCC_000110-HGNC_15901-Orphanet_1515-HP_0000007-GENCC_100009"	"HGNC:15901"	"IFT52"	"MONDO:0009032"	"cranioectodermal dysplasia"	"Orphanet:1515"	"Orphanet:1515"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15901"	"IFT52"	"Orphanet:1515"	"Cranioectodermal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26880018[PMID]_27466190[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24613"	"2021-09-14"
"GENCC_000110-HGNC_21424-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:21424"	"IFT74"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21424"	"IFT74"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27486776[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24615"	"2021-09-14"
"GENCC_000110-HGNC_29112-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:29112"	"IQSEC1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29112"	"IQSEC1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31607425[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24626"	"2021-09-14"
"GENCC_000110-HGNC_6299-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:6299"	"KCNQ5"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6299"	"KCNQ5"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28669405[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24640"	"2021-09-14"
"GENCC_000110-HGNC_18039-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:18039"	"KDM5B"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18039"	"KDM5B"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29276005[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24643"	"2021-09-14"
"GENCC_000110-HGNC_29508-Orphanet_521390-HP_0000006-GENCC_100009"	"HGNC:29508"	"KIDINS220"	"MONDO:0015007"	"spastic paraplegia, intellectual disability, nystagmus, and obesity"	"Orphanet:521390"	"Orphanet:521390"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29508"	"KIDINS220"	"Orphanet:521390"	"Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27005418[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24646"	"2021-09-14"
"GENCC_000110-HGNC_6485-Orphanet_521450-HP_0000006-GENCC_100009"	"HGNC:6485"	"LAMA5"	"MONDO:0033856"	"LAMA5-related multisystemic syndrome"	"Orphanet:521450"	"Orphanet:521450"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6485"	"LAMA5"	"Orphanet:521450"	"LAMA5-related multisystemic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28735299[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24662"	"2021-09-14"
"GENCC_000110-HGNC_16084-Orphanet_466801-HP_0000007-GENCC_100009"	"HGNC:16084"	"LIMS2"	"MONDO:0014788"	"autosomal recessive limb-girdle muscular dystrophy type 2W"	"Orphanet:466801"	"Orphanet:466801"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16084"	"LIMS2"	"Orphanet:466801"	"LIMS2-related limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25589244[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24675"	"2021-09-14"
"GENCC_000110-HGNC_13869-Orphanet_250984-HP_0000007-GENCC_100009"	"HGNC:13869"	"LOXL3"	"MONDO:0016647"	"autosomal recessive Stickler syndrome"	"Orphanet:250984"	"Orphanet:250984"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13869"	"LOXL3"	"Orphanet:250984"	"Autosomal recessive Stickler syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30362103[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24679"	"2021-09-14"
"GENCC_000110-HGNC_18957-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:18957"	"MAGI2"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18957"	"MAGI2"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29773874{PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24683"	"2021-09-14"
"GENCC_000110-HGNC_40050-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:40050"	"MCIDAS"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:40050"	"MCIDAS"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25048963[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24693"	"2021-09-14"
"GENCC_000110-HGNC_6971-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:6971"	"MDH2"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6971"	"MDH2"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25766404[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24695"	"2021-09-14"
"GENCC_000110-HGNC_7104-Orphanet_478049-HP_0000007-GENCC_100009"	"HGNC:7104"	"MIPEP"	"MONDO:0014976"	"lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"	"Orphanet:478049"	"Orphanet:478049"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7104"	"MIPEP"	"Orphanet:478049"	"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27799064[PMID]_25778941[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24703"	"2021-09-14"
"GENCC_000110-HGNC_23573-Orphanet_466768-HP_0000006-GENCC_100009"	"HGNC:23573"	"MORC2"	"MONDO:0014736"	"Charcot-Marie-Tooth disease axonal type 2Z"	"Orphanet:466768"	"Orphanet:466768"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23573"	"MORC2"	"Orphanet:466768"	"Autosomal dominant Charcot-Marie-Tooth disease type 2Z"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26497905[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24710"	"2021-09-14"
"GENCC_000110-HGNC_7373-Orphanet_504530-HP_0001417-GENCC_100009"	"HGNC:7373"	"MSN"	"MONDO:0010514"	"combined immunodeficiency due to moesin deficiency"	"Orphanet:504530"	"Orphanet:504530"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:7373"	"MSN"	"Orphanet:504530"	"Combined immunodeficiency due to Moesin deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27405666[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24718"	"2021-09-14"
"GENCC_000110-HGNC_7623-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:7623"	"MYT1L"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7623"	"MYT1L"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30055078[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24732"	"2021-09-14"
"GENCC_000110-HGNC_7690-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7690"	"NDUFA6"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7690"	"NDUFA6"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30245030[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24739"	"2021-09-14"
"GENCC_000110-HGNC_7696-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:7696"	"NDUFB10"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7696"	"NDUFB10"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28040730[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24745"	"2021-09-14"
"GENCC_000110-HGNC_7703-Orphanet_70474-HP_0000007-GENCC_100009"	"HGNC:7703"	"NDUFB8"	"MONDO:0019083"	"Leigh syndrome with cardiomyopathy"	"Orphanet:70474"	"Orphanet:70474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7703"	"NDUFB8"	"Orphanet:70474"	"Leigh syndrome with cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29429571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24749"	"2021-09-14"
"GENCC_000110-HGNC_7728-Orphanet_98892-HP_0000006-GENCC_100009"	"HGNC:7728"	"NEDD4L"	"MONDO:0020341"	"periventricular nodular heterotopia"	"Orphanet:98892"	"Orphanet:98892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7728"	"NEDD4L"	"Orphanet:98892"	"Periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27694961[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24755"	"2021-09-14"
"GENCC_000110-HGNC_8029-Orphanet_238722-HP_0000006-GENCC_100009"	"HGNC:8029"	"NTN1"	"MONDO:0016558"	"familial congenital mirror movements"	"Orphanet:238722"	"Orphanet:238722"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8029"	"NTN1"	"Orphanet:238722"	"Familial congenital mirror movements"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28945198[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24771"	"2021-09-14"
"GENCC_000110-HGNC_15673-Orphanet_589905-HP_0000006-GENCC_100009"	"HGNC:15673"	"PHIP"	"MONDO:0035133"	"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"	"Orphanet:589905"	"Orphanet:589905"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15673"	"PHIP"	"Orphanet:589905"	"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29209020[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24808"	"2021-09-14"
"GENCC_000110-HGNC_9117-Orphanet_476394-HP_0000006-GENCC_100009"	"HGNC:9117"	"PMP2"	"MONDO:0033135"	"Charcot-Marie-Tooth disease, demyelinating, type 1G"	"Orphanet:476394"	"Orphanet:476394"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9117"	"PMP2"	"Orphanet:476394"	"PMP2-related Charcot-Marie-Tooth disease type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26828946[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24817"	"2021-09-14"
"GENCC_000110-HGNC_18801-Orphanet_468678-HP_0000006-GENCC_100009"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"Orphanet:468678"	"Orphanet:468678"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18801"	"POGZ"	"Orphanet:468678"	"White-Sutton syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26739615[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24819"	"2021-09-14"
"GENCC_000110-HGNC_9282-Orphanet_2701-HP_0000006-GENCC_100009"	"HGNC:9282"	"PPP1CB"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"Orphanet:2701"	"Orphanet:2701"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9282"	"PPP1CB"	"Orphanet:2701"	"Noonan syndrome-like disorder with loose anagen hair"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27264673[PMID]_27868344[PMID]_28211982[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24822"	"2021-09-14"
"GENCC_000110-HGNC_13997-Orphanet_478664-HP_0000007-GENCC_100009"	"HGNC:13997"	"PRDM12"	"MONDO:0014662"	"congenital insensitivity to pain-hypohidrosis syndrome"	"Orphanet:478664"	"Orphanet:478664"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13997"	"PRDM12"	"Orphanet:478664"	"Hereditary sensory and autonomic neuropathy type 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26005867[PMID]_26975306[PMID]_28050684[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24824"	"2021-09-14"
"GENCC_000110-HGNC_9801-Orphanet_500159-HP_0000006-GENCC_100009"	"HGNC:9801"	"RAC1"	"MONDO:0030913"	"intellectual disability, autosomal dominant 48"	"Orphanet:500159"	"Orphanet:500159"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9801"	"RAC1"	"Orphanet:500159"	"Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28886345[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24845"	"2021-09-14"
"GENCC_000110-HGNC_27089-Orphanet_542301-HP_0000007-GENCC_100009"	"HGNC:27089"	"CARMIL2"	"MONDO:0029134"	"severe combined immunodeficiency due to CARMIL2 deficiency"	"Orphanet:542301"	"Orphanet:542301"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27089"	"CARMIL2"	"Orphanet:542301"	"Combined immunodeficiency due to CARMIL2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29226302[PMID]_27896283[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24861"	"2021-09-14"
"GENCC_000110-HGNC_10260-Orphanet_477857-HP_0000007-GENCC_100009"	"HGNC:10260"	"RORC"	"MONDO:0014710"	"autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"	"Orphanet:477857"	"Orphanet:477857"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10260"	"RORC"	"Orphanet:477857"	"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26160376[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24869"	"2021-09-14"
"GENCC_000110-HGNC_18647-Orphanet_98676-HP_0000007-GENCC_100009"	"HGNC:18647"	"RTN4IP1"	"MONDO:0014753"	"autosomal recessive optic atrophy"	"Orphanet:98676"	"Orphanet:98676"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18647"	"RTN4IP1"	"Orphanet:98676"	"Autosomal recessive isolated optic atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26593267[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24878"	"2021-09-14"
"GENCC_000110-HGNC_10590-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:10590"	"SCN3A"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10590"	"SCN3A"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29466837[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24887"	"2021-09-14"
"GENCC_000110-HGNC_14372-Orphanet_466794-HP_0000007-GENCC_100009"	"HGNC:14372"	"SCYL1"	"MONDO:0014744"	"acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"	"Orphanet:466794"	"Orphanet:466794"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14372"	"SCYL1"	"Orphanet:466794"	"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26581903[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24889"	"2021-09-14"
"GENCC_000110-HGNC_19353-Orphanet_500166-HP_0000006-GENCC_100009"	"HGNC:19353"	"SIN3A"	"MONDO:0044700"	"SIN3A-related intellectual disability syndrome due to a point mutation"	"Orphanet:500166"	"Orphanet:500166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19353"	"SIN3A"	"Orphanet:500166"	"SIN3A-related intellectual disability syndrome due to a point mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27399968[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24902"	"2021-09-14"
"GENCC_000110-HGNC_10936-Orphanet_994-HP_0000007-GENCC_100009"	"HGNC:10936"	"SLC18A3"	"MONDO:0100101"	"fetal akinesia deformation sequence 1"	"Orphanet:994"	"Orphanet:994"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10936"	"SLC18A3"	"Orphanet:994"	"Fetal akinesia deformation sequence"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31059209[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24906"	"2021-09-14"
"GENCC_000110-HGNC_10936-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:10936"	"SLC18A3"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10936"	"SLC18A3"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27590285[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24906"	"2021-09-14"
"GENCC_000110-HGNC_10940-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:10940"	"SLC1A2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10940"	"SLC1A2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27476654[PMID]_28777935[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24907"	"2021-09-14"
"GENCC_000110-HGNC_32689-Orphanet_466806-HP_0000006-GENCC_100009"	"HGNC:32689"	"SLFN14"	"MONDO:0014830"	"platelet-type bleeding disorder 20"	"Orphanet:466806"	"Orphanet:466806"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:32689"	"SLFN14"	"Orphanet:466806"	"Autosomal dominant thrombocytopenia with platelet secretion defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26280575[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24926"	"2021-09-14"
"GENCC_000110-HGNC_6768-Orphanet_91387-HP_0000006-GENCC_100009"	"HGNC:6768"	"SMAD2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"Orphanet:91387"	"Orphanet:91387"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6768"	"SMAD2"	"Orphanet:91387"	"Familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29967133[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24927"	"2021-09-14"
"GENCC_000110-HGNC_11105-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:11105"	"SMARCC2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11105"	"SMARCC2"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30580808[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24929"	"2021-09-14"
"GENCC_000110-HGNC_29256-Orphanet_562559-HP_0000007-GENCC_100009"	"HGNC:29256"	"SOBP"	"MONDO:0013353"	"intellectual disability, anterior maxillary protrusion, and strabismus"	"Orphanet:562559"	"Orphanet:562559"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29256"	"SOBP"	"Orphanet:562559"	"Anterior maxillary protrusion-strabismus-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"17618476[PMID]_21035105[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24935"	"2021-09-14"
"GENCC_000110-HGNC_11183-Orphanet_500150-HP_0000006-GENCC_100009"	"HGNC:11183"	"SON"	"MONDO:0014936"	"ZTTK syndrome"	"Orphanet:500150"	"Orphanet:500150"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11183"	"SON"	"Orphanet:500150"	"Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27545680[PMID]_27545676[PMID]_27256762[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24938"	"2021-09-14"
"GENCC_000110-HGNC_17075-Orphanet_228410-HP_0000006-GENCC_100009"	"HGNC:17075"	"TAB2"	"MONDO:0016460"	"polyvalvular heart disease syndrome"	"Orphanet:228410"	"Orphanet:228410"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17075"	"TAB2"	"Orphanet:228410"	"Polyvalvular heart disease syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28386937[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24961"	"2021-09-14"
"GENCC_000110-HGNC_11581-Orphanet_496641-HP_0000007-GENCC_100009"	"HGNC:11581"	"TBCD"	"MONDO:0044646"	"early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"	"Orphanet:496641"	"Orphanet:496641"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11581"	"TBCD"	"Orphanet:496641"	"Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27807845[PMID]_27666374[PMID]_27666370[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24967"	"2021-09-14"
"GENCC_000110-HGNC_11590-Orphanet_280640-HP_0000007-GENCC_100009"	"HGNC:11590"	"TBR1"	"MONDO:0013583"	"occipital pachygyria and polymicrogyria"	"Orphanet:280640"	"Orphanet:280640"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11590"	"TBR1"	"Orphanet:280640"	"Occipital pachygyria and polymicrogyria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30268909[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24968"	"2021-09-14"
"GENCC_000110-HGNC_11631-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:11631"	"TCF20"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11631"	"TCF20"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30909959[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24969"	"2021-09-14"
"GENCC_000110-HGNC_11763-Orphanet_476113-HP_0000007-GENCC_100009"	"HGNC:11763"	"TFRC"	"MONDO:0014760"	"TFRC-related combined immunodeficiency"	"Orphanet:476113"	"Orphanet:476113"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11763"	"TFRC"	"Orphanet:476113"	"Combined immunodeficiency due to TFRC deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26642240[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24978"	"2021-09-14"
"GENCC_000110-HGNC_1321-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:1321"	"TIMMDC1"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1321"	"TIMMDC1"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28604674[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24983"	"2021-09-14"
"GENCC_000110-HGNC_28128-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:28128"	"TMEM107"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28128"	"TMEM107"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26123494[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24987"	"2021-09-14"
"GENCC_000110-HGNC_18085-Orphanet_466703-HP_0000007-GENCC_100009"	"HGNC:18085"	"VMA12"	"MONDO:0014790"	"TMEM199-CDG"	"Orphanet:466703"	"Orphanet:466703"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18085"	"TMEM199"	"Orphanet:466703"	"TMEM199-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26833330[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24988"	"2021-09-14"
"GENCC_000110-HGNC_11708-Orphanet_2224-HP_0000007-GENCC_100009"	"HGNC:11708"	"TDO2"	"MONDO:0010907"	"familial hypertryptophanemia"	"Orphanet:2224"	"Orphanet:2224"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11708"	"TDO2"	"Orphanet:2224"	"Hypertryptophanemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28285122[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"24996"	"2021-09-14"
"GENCC_000110-HGNC_12303-Orphanet_476126-HP_0000006-GENCC_100009"	"HGNC:12303"	"TRIO"	"MONDO:0014892"	"micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"	"Orphanet:476126"	"Orphanet:476126"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12303"	"TRIO"	"Orphanet:476126"	"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26721934[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25001"	"2021-09-14"
"GENCC_000110-HGNC_12306-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:12306"	"TRIP12"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12306"	"TRIP12"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28251352[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25002"	"2021-09-14"
"GENCC_000110-HGNC_20597-Orphanet_139441-HP_0000006-GENCC_100009"	"HGNC:20597"	"UFM1"	"MONDO:0012905"	"hypomyelinating leukodystrophy 6"	"Orphanet:139441"	"Orphanet:139441"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20597"	"UFM1"	"Orphanet:139441"	"Hypomyelination with atrophy of basal ganglia and cerebellum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28931644[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25015"	"2021-09-14"
"GENCC_000110-HGNC_12587-Orphanet_1460-HP_0000007-GENCC_100009"	"HGNC:12587"	"UQCRFS1"	"MONDO:0015448"	"mitochondrial complex III deficiency"	"Orphanet:1460"	"Orphanet:1460"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12587"	"UQCRFS1"	"Orphanet:1460"	"Isolated complex III deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32001716[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25022"	"2021-09-14"
"GENCC_000110-HGNC_17327-Orphanet_466950-HP_0000006-GENCC_100009"	"HGNC:17327"	"WAC"	"MONDO:0014741"	"DeSanto-Shinawi syndrome due to WAC point mutation"	"Orphanet:466950"	"Orphanet:466950"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17327"	"WAC"	"Orphanet:466950"	"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26264232[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25031"	"2021-09-14"
"GENCC_000110-HGNC_12756-Orphanet_2065-HP_0000007-GENCC_100009"	"HGNC:12756"	"WDR4"	"MONDO:0009627"	"Galloway-Mowat syndrome"	"Orphanet:2065"	"Orphanet:2065"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12756"	"WDR4"	"Orphanet:2065"	"Galloway-Mowat syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30079490[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25035"	"2021-09-14"
"GENCC_000110-HGNC_28506-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:28506"	"CFAP251"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28506"	"CFAP251"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30122540[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25038"	"2021-09-14"
"GENCC_000110-HGNC_24595-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:24595"	"DYNC2LI1"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24595"	"DYNC2LI1"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26077881[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25061"	"2021-09-14"
"GENCC_000110-HGNC_24595-Orphanet_289-HP_0000007-GENCC_100009"	"HGNC:24595"	"DYNC2LI1"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"Orphanet:289"	"Orphanet:289"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24595"	"DYNC2LI1"	"Orphanet:289"	"Ellis Van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26130459[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25061"	"2021-09-14"
"GENCC_000110-HGNC_3468-Orphanet_99361-HP_0000006-GENCC_100009"	"HGNC:3468"	"ESR2"	"MONDO:0007958"	"familial medullary thyroid carcinoma"	"Orphanet:99361"	"Orphanet:99361"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3468"	"ESR2"	"Orphanet:99361"	"Familial medullary thyroid carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26945007[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25062"	"2021-09-14"
"GENCC_000110-HGNC_9171-Orphanet_2828-HP_0000007-GENCC_100009"	"HGNC:9171"	"PODXL"	"MONDO:0017279"	"young-onset Parkinson disease"	"Orphanet:2828"	"Orphanet:2828"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9171"	"PODXL"	"Orphanet:2828"	"Young-onset Parkinson disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26864383[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25063"	"2021-09-14"
"GENCC_000110-HGNC_9171-Orphanet_391411-HP_0000007-GENCC_100009"	"HGNC:9171"	"PODXL"	"MONDO:0018321"	"atypical juvenile parkinsonism"	"Orphanet:391411"	"Orphanet:391411"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9171"	"PODXL"	"Orphanet:391411"	"Atypical juvenile parkinsonism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26864383[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25063"	"2021-09-14"
"GENCC_000110-HGNC_4519-Orphanet_100033-HP_0000007-GENCC_100009"	"HGNC:4519"	"GPR68"	"MONDO:0015048"	"amelogenesis imperfecta type 2"	"Orphanet:100033"	"Orphanet:100033"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4519"	"GPR68"	"Orphanet:100033"	"Hypomaturation amelogenesis imperfecta"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27693231[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25064"	"2021-09-14"
"GENCC_000110-HGNC_18053-Orphanet_101063-HP_0000006-GENCC_100009"	"HGNC:18053"	"PKD1L1"	"MONDO:0010029"	"situs inversus"	"Orphanet:101063"	"Orphanet:101063"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18053"	"PKD1L1"	"Orphanet:101063"	"Situs inversus totalis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27616478[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25071"	"2021-09-14"
"GENCC_000110-HGNC_29110-Orphanet_2754-HP_0000007-GENCC_100009"	"HGNC:29110"	"KIAA0753"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"Orphanet:2754"	"Orphanet:2754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29110"	"KIAA0753"	"Orphanet:2754"	"Orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26643951[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25094"	"2021-09-14"
"GENCC_000110-HGNC_15505-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:15505"	"MBOAT7"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15505"	"MBOAT7"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27616480[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25095"	"2021-09-14"
"GENCC_000110-HGNC_28570-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:28570"	"DNAAF6"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28570"	"DNAAF6"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28041644[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25099"	"2021-09-14"
"GENCC_000110-HGNC_2359-Orphanet_468672-HP_0000006-GENCC_100009"	"HGNC:2359"	"CRIM1"	"MONDO:0011239"	"colobomatous macrophthalmia-microcornea syndrome"	"Orphanet:468672"	"Orphanet:468672"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2359"	"CRIM1"	"Orphanet:468672"	"Colobomatous macrophthalmia-microcornea syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25561690[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25106"	"2021-09-14"
"GENCC_000110-HGNC_14583-Orphanet_466934-HP_0000007-GENCC_100009"	"HGNC:14583"	"VPS11"	"MONDO:0014732"	"hypomyelinating leukodystrophy 12"	"Orphanet:466934"	"Orphanet:466934"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14583"	"VPS11"	"Orphanet:466934"	"VPS11-related autosomal recessive hypomyelinating leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26307567[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25109"	"2021-09-14"
"GENCC_000110-HGNC_9035-Orphanet_468635-HP_0000007-GENCC_100009"	"HGNC:9035"	"PLA2G4A"	"MONDO:0018765"	"cryptogenic multifocal ulcerous stenosing enteritis"	"Orphanet:468635"	"Orphanet:468635"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9035"	"PLA2G4A"	"Orphanet:468635"	"Cryptogenic multifocal ulcerous stenosing enteritis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23268370[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25110"	"2021-09-14"
"GENCC_000110-HGNC_9035-Orphanet_477787-HP_0000007-GENCC_100009"	"HGNC:9035"	"PLA2G4A"	"MONDO:0018794"	"cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	"Orphanet:477787"	"Orphanet:477787"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9035"	"PLA2G4A"	"Orphanet:477787"	"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25102815[PMID]_18451993[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25110"	"2021-09-14"
"GENCC_000110-HGNC_20661-Orphanet_466784-HP_0000007-GENCC_100009"	"HGNC:20661"	"SLC25A26"	"MONDO:0014775"	"combined oxidative phosphorylation deficiency 28"	"Orphanet:466784"	"Orphanet:466784"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20661"	"SLC25A26"	"Orphanet:466784"	"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26522469[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25111"	"2021-09-14"
"GENCC_000110-HGNC_20862-Orphanet_468699-HP_0000007-GENCC_100009"	"HGNC:20862"	"SLC39A8"	"MONDO:0014746"	"SLC39A8-CDG"	"Orphanet:468699"	"Orphanet:468699"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20862"	"SLC39A8"	"Orphanet:468699"	"SLC39A8-CDG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26637978[PMID]_26637979[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25112"	"2021-09-14"
"GENCC_000110-HGNC_25491-Orphanet_466688-HP_0000007-GENCC_100009"	"HGNC:25491"	"FRMD4A"	"MONDO:0014787"	"severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"	"Orphanet:466688"	"Orphanet:466688"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25491"	"FRMD4A"	"Orphanet:466688"	"Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25388005[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25119"	"2021-09-14"
"GENCC_000110-HGNC_6888-Orphanet_466718-HP_0000006-GENCC_100009"	"HGNC:6888"	"MAPKAPK3"	"MONDO:0014920"	"patterned macular dystrophy 3"	"Orphanet:466718"	"Orphanet:466718"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6888"	"MAPKAPK3"	"Orphanet:466718"	"Martinique crinkled retinal pigment epitheliopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26744326[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25120"	"2021-09-14"
"GENCC_000110-HGNC_6181-Orphanet_468666-HP_0000007-GENCC_100009"	"HGNC:6181"	"ITPR2"	"MONDO:0007118"	"isolated anhidrosis with normal sweat glands"	"Orphanet:468666"	"Orphanet:468666"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6181"	"ITPR2"	"Orphanet:468666"	"Isolated generalized anhidrosis with normal sweat glands"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25329695[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25121"	"2021-09-14"
"GENCC_000110-HGNC_25705-Orphanet_36899-HP_0000006-GENCC_100009"	"HGNC:25705"	"KCTD17"	"MONDO:0000903"	"myoclonus-dystonia syndrome"	"Orphanet:36899"	"Orphanet:36899"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25705"	"KCTD17"	"Orphanet:36899"	"Myoclonus-dystonia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25983243[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25122"	"2021-09-14"
"GENCC_000110-HGNC_18243-Orphanet_99002-HP_0000007-GENCC_100009"	"HGNC:18243"	"RCBTB1"	"MONDO:0009979"	"reticular dystrophy of the retinal pigment epithelium"	"Orphanet:99002"	"Orphanet:99002"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18243"	"RCBTB1"	"Orphanet:99002"	"Reticular dystrophy of the retinal pigment epithelium"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27486781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25123"	"2021-09-14"
"GENCC_000110-HGNC_6764-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:6764"	"MAD2L2"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6764"	"MAD2L2"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27500492[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25126"	"2021-09-14"
"GENCC_000110-HGNC_18337-Orphanet_1410-HP_0000007-GENCC_100009"	"HGNC:18337"	"PADI3"	"MONDO:0008621"	"uncombable hair syndrome"	"Orphanet:1410"	"Orphanet:1410"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18337"	"PADI3"	"Orphanet:1410"	"Uncombable hair syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27866708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25128"	"2021-09-14"
"GENCC_000110-HGNC_11779-Orphanet_1410-HP_0000007-GENCC_100009"	"HGNC:11779"	"TGM3"	"MONDO:0008621"	"uncombable hair syndrome"	"Orphanet:1410"	"Orphanet:1410"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11779"	"TGM3"	"Orphanet:1410"	"Uncombable hair syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27866708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25130"	"2021-09-14"
"GENCC_000110-HGNC_7585-Orphanet_334-HP_0000006-GENCC_100009"	"HGNC:7585"	"MYL4"	"MONDO:0018054"	"familial atrial fibrillation"	"Orphanet:334"	"Orphanet:334"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7585"	"MYL4"	"Orphanet:334"	"Familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27066836[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25133"	"2021-09-14"
"GENCC_000110-HGNC_27365-Orphanet_3286-HP_0000006-GENCC_100009"	"HGNC:27365"	"TECRL"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"Orphanet:3286"	"Orphanet:3286"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:27365"	"TECRL"	"Orphanet:3286"	"Catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27861123[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25169"	"2021-09-14"
"GENCC_000110-HGNC_17158-Orphanet_589522-HP_0000006-GENCC_100009"	"HGNC:17158"	"PLD3"	"MONDO:0033481"	"spinocerebellar ataxia 46"	"Orphanet:589522"	"Orphanet:589522"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17158"	"PLD3"	"Orphanet:589522"	"Spinocerebellar ataxia type 46"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29847346[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25170"	"2021-09-14"
"GENCC_000110-HGNC_29079-Orphanet_477993-HP_0000006-GENCC_100009"	"HGNC:29079"	"KDM1A"	"MONDO:0014751"	"palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"	"Orphanet:477993"	"Orphanet:477993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29079"	"KDM1A"	"Orphanet:477993"	"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"24838796[PMID]_26656649[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25173"	"2021-09-14"
"GENCC_000110-HGNC_5330-Orphanet_541423-HP_0000007-GENCC_100009"	"HGNC:5330"	"IARS1"	"MONDO:0014911"	"growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy"	"Orphanet:541423"	"Orphanet:541423"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5330"	"IARS1"	"Orphanet:541423"	"Growth delay-intellectual disability-hepatopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27426735[PMID]_29052218[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25185"	"2021-09-14"
"GENCC_000110-HGNC_10895-Orphanet_99789-HP_0000006-GENCC_100009"	"HGNC:10895"	"VPS4B"	"MONDO:0007436"	"dentin dysplasia type I"	"Orphanet:99789"	"Orphanet:99789"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10895"	"VPS4B"	"Orphanet:99789"	"Dentin dysplasia type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27247351[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25194"	"2021-09-14"
"GENCC_000110-HGNC_7608-Orphanet_98914-HP_0000006-GENCC_100009"	"HGNC:7608"	"MYO9A"	"MONDO:0020345"	"presynaptic congenital myasthenic syndrome"	"Orphanet:98914"	"Orphanet:98914"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7608"	"MYO9A"	"Orphanet:98914"	"Presynaptic congenital myasthenic syndromes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27259756[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25195"	"2021-09-14"
"GENCC_000110-HGNC_23141-Orphanet_477684-HP_0000007-GENCC_100009"	"HGNC:23141"	"TRMT5"	"MONDO:0014684"	"combined oxidative phosphorylation defect type 26"	"Orphanet:477684"	"Orphanet:477684"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23141"	"TRMT5"	"Orphanet:477684"	"Combined oxidative phosphorylation defect type 26"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26189817[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25266"	"2021-09-14"
"GENCC_000110-HGNC_17772-Orphanet_478029-HP_0000007-GENCC_100009"	"HGNC:17772"	"TXN2"	"MONDO:0033187"	"combined oxidative phosphorylation defect type 29"	"Orphanet:478029"	"Orphanet:478029"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17772"	"TXN2"	"Orphanet:478029"	"Combined oxidative phosphorylation defect type 29"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26626369[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25267"	"2021-09-14"
"GENCC_000110-HGNC_11283-Orphanet_480851-HP_0000006-GENCC_100009"	"HGNC:11283"	"SRC"	"MONDO:0014837"	"thrombocytopenia 6"	"Orphanet:480851"	"Orphanet:480851"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11283"	"SRC"	"Orphanet:480851"	"Hereditary thrombocytopenia with early-onset myelofibrosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26936507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25273"	"2021-09-14"
"GENCC_000110-HGNC_26022-Orphanet_478042-HP_0000007-GENCC_100009"	"HGNC:26022"	"TRMT10C"	"MONDO:0014856"	"combined oxidative phosphorylation defect type 30"	"Orphanet:478042"	"Orphanet:478042"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26022"	"TRMT10C"	"Orphanet:478042"	"Combined oxidative phosphorylation defect type 30"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27132592[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25274"	"2021-09-14"
"GENCC_000110-HGNC_12616-Orphanet_481665-HP_0000007-GENCC_100009"	"HGNC:12616"	"USP18"	"MONDO:0018828"	"pseudo-TORCH syndrome 2"	"Orphanet:481665"	"Orphanet:481665"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12616"	"USP18"	"Orphanet:481665"	"USP18 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27325888[PMID]_27821552[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25275"	"2021-09-14"
"GENCC_000110-HGNC_1591-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:1591"	"CCNF"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1591"	"CCNF"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27080313[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25283"	"2021-09-14"
"GENCC_000110-HGNC_17797-Orphanet_2020-HP_0000006-GENCC_100009"	"HGNC:17797"	"MAP3K20"	"MONDO:0009711"	"congenital fiber-type disproportion myopathy"	"Orphanet:2020"	"Orphanet:2020"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17797"	"MAP3K20"	"Orphanet:2020"	"Congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27816943[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25286"	"2021-09-14"
"GENCC_000110-HGNC_7102-Orphanet_284339-HP_0000007-GENCC_100009"	"HGNC:7102"	"MINPP1"	"MONDO:0013993"	"pontocerebellar hypoplasia type 7"	"Orphanet:284339"	"Orphanet:284339"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7102"	"MINPP1"	"Orphanet:284339"	"Pontocerebellar hypoplasia type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33168985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25289"	"2021-09-14"
"GENCC_000110-HGNC_8117-Orphanet_88620-HP_0000006-GENCC_100009"	"HGNC:8117"	"TENM1"	"MONDO:0007137"	"isolated congenital anosmia"	"Orphanet:88620"	"Orphanet:88620"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8117"	"TENM1"	"Orphanet:88620"	"Isolated congenital anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27040985[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25291"	"2021-09-14"
"GENCC_000110-HGNC_11056-Orphanet_289860-HP_0000007-GENCC_100009"	"HGNC:11056"	"SLC6A9"	"MONDO:0017354"	"infantile glycine encephalopathy"	"Orphanet:289860"	"Orphanet:289860"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11056"	"SLC6A9"	"Orphanet:289860"	"Infantile glycine encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27481395[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25292"	"2021-09-14"
"GENCC_000110-HGNC_11056-Orphanet_289863-HP_0000005-GENCC_100009"	"HGNC:11056"	"SLC6A9"	"MONDO:0015010"	"atypical glycine encephalopathy"	"Orphanet:289863"	"Orphanet:289863"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11056"	"SLC6A9"	"Orphanet:289863"	"Atypical glycine encephalopathy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27773429[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25292"	"2021-09-14"
"GENCC_000110-HGNC_30935-Orphanet_79094-HP_0000006-GENCC_100009"	"HGNC:30935"	"YY1AP1"	"MONDO:0011243"	"grange syndrome"	"Orphanet:79094"	"Orphanet:79094"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30935"	"YY1AP1"	"Orphanet:79094"	"Grange syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27939641[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25293"	"2021-09-14"
"GENCC_000110-HGNC_14376-Orphanet_100031-HP_0000006-GENCC_100009"	"HGNC:14376"	"ACP4"	"MONDO:0015047"	"amelogenesis imperfecta type 1"	"Orphanet:100031"	"Orphanet:100031"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14376"	"ACP4"	"Orphanet:100031"	"Hypoplastic amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27843125[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25294"	"2021-09-14"
"GENCC_000110-HGNC_30078-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:30078"	"REEP6"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30078"	"REEP6"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27889058[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25295"	"2021-09-14"
"GENCC_000110-HGNC_23177-Orphanet_276399-HP_0000006-GENCC_100009"	"HGNC:23177"	"KEAP1"	"MONDO:0007681"	"goiter, multinodular 1, with or without Sertoli-Leydig cell tumors"	"Orphanet:276399"	"Orphanet:276399"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23177"	"KEAP1"	"Orphanet:276399"	"Familial multinodular goiter"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23724128[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25299"	"2021-09-14"
"GENCC_000110-HGNC_9457-Orphanet_3006-HP_0000007-GENCC_100009"	"HGNC:9457"	"PLPBP"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"Orphanet:3006"	"Orphanet:3006"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9457"	"PLPBP"	"Orphanet:3006"	"Pyridoxine-dependent epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27912044[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25313"	"2021-09-14"
"GENCC_000110-HGNC_567-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:567"	"AP3B2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:567"	"AP3B2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27889060[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25314"	"2021-09-14"
"GENCC_000110-HGNC_33814-Orphanet_98913-HP_0000007-GENCC_100009"	"HGNC:33814"	"AK9"	"MONDO:0020344"	"postsynaptic congenital myasthenic syndrome"	"Orphanet:98913"	"Orphanet:98913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33814"	"AK9"	"Orphanet:98913"	"Postsynaptic congenital myasthenic syndromes"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27966543[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25315"	"2021-09-14"
"GENCC_000110-HGNC_15954-Orphanet_284339-HP_0000007-GENCC_100009"	"HGNC:15954"	"TOE1"	"MONDO:0013993"	"pontocerebellar hypoplasia type 7"	"Orphanet:284339"	"Orphanet:284339"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15954"	"TOE1"	"Orphanet:284339"	"Pontocerebellar hypoplasia type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28092684[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25316"	"2021-09-14"
"GENCC_000110-HGNC_29536-Orphanet_93589-HP_0000007-GENCC_100009"	"HGNC:29536"	"MAPKBP1"	"MONDO:0019742"	"late-onset nephronophthisis"	"Orphanet:93589"	"Orphanet:93589"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29536"	"MAPKBP1"	"Orphanet:93589"	"Late-onset nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28089251[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25317"	"2021-09-14"
"GENCC_000110-HGNC_29536-Orphanet_93592-HP_0000007-GENCC_100009"	"HGNC:29536"	"MAPKBP1"	"MONDO:0009728"	"nephronophthisis 1"	"Orphanet:93592"	"Orphanet:93592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29536"	"MAPKBP1"	"Orphanet:93592"	"Juvenile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28089251[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25317"	"2021-09-14"
"GENCC_000110-HGNC_857-Orphanet_357074-HP_0000007-GENCC_100009"	"HGNC:857"	"ATP6V1E1"	"MONDO:0009054"	"autosomal recessive cutis laxa type 2, classic type"	"Orphanet:357074"	"Orphanet:357074"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:857"	"ATP6V1E1"	"Orphanet:357074"	"Autosomal recessive cutis laxa type 2, classic type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28065471[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25318"	"2021-09-14"
"GENCC_000110-HGNC_851-Orphanet_357074-HP_0000007-GENCC_100009"	"HGNC:851"	"ATP6V1A"	"MONDO:0009054"	"autosomal recessive cutis laxa type 2, classic type"	"Orphanet:357074"	"Orphanet:357074"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:851"	"ATP6V1A"	"Orphanet:357074"	"Autosomal recessive cutis laxa type 2, classic type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28065471[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25319"	"2021-09-14"
"GENCC_000110-HGNC_851-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:851"	"ATP6V1A"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:851"	"ATP6V1A"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29668857[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25319"	"2021-09-14"
"GENCC_000110-HGNC_24809-Orphanet_99789-HP_0000006-GENCC_100009"	"HGNC:24809"	"SSUH2"	"MONDO:0007436"	"dentin dysplasia type I"	"Orphanet:99789"	"Orphanet:99789"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24809"	"SSUH2"	"Orphanet:99789"	"Dentin dysplasia type I"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27680507[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25320"	"2021-09-14"
"GENCC_000110-HGNC_17090-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:17090"	"ARHGEF18"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17090"	"ARHGEF18"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28132693[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25321"	"2021-09-14"
"GENCC_000110-HGNC_2220-Orphanet_293843-HP_0000007-GENCC_100009"	"HGNC:2220"	"COLEC10"	"MONDO:0017398"	"3MC syndrome"	"Orphanet:293843"	"Orphanet:293843"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2220"	"COLEC10"	"Orphanet:293843"	"3MC syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28301481[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25331"	"2021-09-14"
"GENCC_000110-HGNC_26624-Orphanet_1810-HP_0000006-GENCC_100009"	"HGNC:26624"	"KDF1"	"MONDO:0015884"	"autosomal dominant hypohidrotic ectodermal dysplasia"	"Orphanet:1810"	"Orphanet:1810"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26624"	"KDF1"	"Orphanet:1810"	"Autosomal dominant hypohidrotic ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27838789[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25341"	"2021-09-14"
"GENCC_000110-HGNC_11546-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:11546"	"TAF13"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11546"	"TAF13"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28257693[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25353"	"2021-09-14"
"GENCC_000110-HGNC_12309-Orphanet_2836-HP_0000006-GENCC_100009"	"HGNC:12309"	"ZNHIT3"	"MONDO:0009841"	"PEHO syndrome"	"Orphanet:2836"	"Orphanet:2836"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12309"	"ZNHIT3"	"Orphanet:2836"	"PEHO syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28335020[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25354"	"2021-09-14"
"GENCC_000110-HGNC_27030-Orphanet_811-HP_0000007-GENCC_100009"	"HGNC:27030"	"DNAJC21"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"Orphanet:811"	"Orphanet:811"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:27030"	"DNAJC21"	"Orphanet:811"	"Shwachman-Diamond syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28062395[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25355"	"2021-09-14"
"GENCC_000110-HGNC_33882-Orphanet_559-HP_0000007-GENCC_100009"	"HGNC:33882"	"INPP5K"	"MONDO:0009567"	"Marinesco-Sjogren syndrome"	"Orphanet:559"	"Orphanet:559"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33882"	"INPP5K"	"Orphanet:559"	"Marinesco-Sj÷gren syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28190456_28190459[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25356"	"2021-09-14"
"GENCC_000110-HGNC_3188-Orphanet_3447-HP_0000006-GENCC_100009"	"HGNC:3188"	"EED"	"MONDO:0010193"	"Weaver syndrome"	"Orphanet:3447"	"Orphanet:3447"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3188"	"EED"	"Orphanet:3447"	"Weaver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27868325_28229514[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25357"	"2021-09-14"
"GENCC_000110-HGNC_30262-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:30262"	"PYCR2"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30262"	"PYCR2"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27860360[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25358"	"2021-09-14"
"GENCC_000110-HGNC_17085-Orphanet_93359-HP_0000007-GENCC_100009"	"HGNC:17085"	"EXOC6B"	"MONDO:0019675"	"spondyloepimetaphyseal dysplasia with joint laxity"	"Orphanet:93359"	"Orphanet:93359"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17085"	"EXOC6B"	"Orphanet:93359"	"Spondyloepimetaphyseal dysplasia with joint laxity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26669664[PMID]_30284759[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25374"	"2021-09-14"
"GENCC_000110-HGNC_4021-Orphanet_317-HP_0000006-GENCC_100009"	"HGNC:4021"	"KDSR"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"Orphanet:317"	"Orphanet:317"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4021"	"KDSR"	"Orphanet:317"	"Erythrokeratodermia variabilis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28575652[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25406"	"2021-09-14"
"GENCC_000110-HGNC_4021-Orphanet_316-HP_0000006-GENCC_100009"	"HGNC:4021"	"KDSR"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"Orphanet:316"	"Orphanet:316"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4021"	"KDSR"	"Orphanet:316"	"Progressive symmetric erythrokeratodermia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28575652[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25406"	"2021-09-14"
"GENCC_000110-HGNC_6292-Orphanet_3473-HP_0000007-GENCC_100009"	"HGNC:6292"	"KCNN3"	"MONDO:0000200"	"Zimmermann-Laband syndrome"	"Orphanet:3473"	"Orphanet:3473"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6292"	"KCNN3"	"Orphanet:3473"	"Zimmermann-Laband syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31155282[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25422"	"2021-09-14"
"GENCC_000110-HGNC_9760-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:9760"	"RAB11A"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9760"	"RAB11A"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25423"	"2021-09-14"
"GENCC_000110-HGNC_6647-Orphanet_2241-HP_0000006-GENCC_100009"	"HGNC:6647"	"LMOD1"	"MONDO:0007960"	"megacystis-microcolon-intestinal hypoperistalsis syndrome"	"Orphanet:2241"	"Orphanet:2241"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6647"	"LMOD1"	"Orphanet:2241"	"Megacystis-microcolon-intestinal hypoperistalsis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28292896[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25435"	"2021-09-14"
"GENCC_000110-HGNC_33778-Orphanet_1358-HP_0000007-GENCC_100009"	"HGNC:33778"	"MYMK"	"MONDO:0009700"	"Carey-Fineman-Ziter syndrome"	"Orphanet:1358"	"Orphanet:1358"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33778"	"MYMK"	"Orphanet:1358"	"Carey-Fineman-Ziter syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28681861[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25441"	"2021-09-14"
"GENCC_000110-HGNC_10537-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:10537"	"SARS1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10537"	"SARS1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28236339[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25442"	"2021-09-14"
"GENCC_000110-HGNC_3046-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:3046"	"PIGP"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3046"	"PIGP"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28334793[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25443"	"2021-09-14"
"GENCC_000110-HGNC_2267-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:2267"	"COX5A"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2267"	"COX5A"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28247525[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25447"	"2021-09-14"
"GENCC_000110-HGNC_28971-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:28971"	"SPIDR"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28971"	"SPIDR"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27967308[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25448"	"2021-09-14"
"GENCC_000110-HGNC_8960-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:8960"	"PIGC"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8960"	"PIGC"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27694521[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25460"	"2021-09-14"
"GENCC_000110-HGNC_40045-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:40045"	"PET117"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:40045"	"PET117"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28386624[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25463"	"2021-09-14"
"GENCC_000110-HGNC_535-Orphanet_803-HP_0000006-GENCC_100009"	"HGNC:535"	"ANXA11"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"Orphanet:803"	"Orphanet:803"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:535"	"ANXA11"	"Orphanet:803"	"Amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28469040[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25464"	"2021-09-14"
"GENCC_000110-HGNC_17939-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:17939"	"SLC45A1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17939"	"SLC45A1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28434495[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25465"	"2021-09-14"
"GENCC_000110-HGNC_26684-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:26684"	"CFAP43"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26684"	"CFAP43"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28552195[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25466"	"2021-09-14"
"GENCC_000110-HGNC_25631-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:25631"	"CFAP44"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25631"	"CFAP44"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28552195[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25467"	"2021-09-14"
"GENCC_000110-HGNC_11459-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:11459"	"SULT2B1"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11459"	"SULT2B1"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28575648[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25468"	"2021-09-14"
"GENCC_000110-HGNC_12307-Orphanet_654-HP_0000006-GENCC_100009"	"HGNC:12307"	"TRIP13"	"MONDO:0019004"	"kidney Wilms tumor"	"Orphanet:654"	"Orphanet:654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12307"	"TRIP13"	"Orphanet:654"	"Nephroblastoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28553959[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25483"	"2021-09-14"
"GENCC_000110-HGNC_12307-Orphanet_1052-HP_0000006-GENCC_100009"	"HGNC:12307"	"TRIP13"	"MONDO:0000141"	"mosaic variegated aneuploidy syndrome"	"Orphanet:1052"	"Orphanet:1052"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12307"	"TRIP13"	"Orphanet:1052"	"Mosaic variegated aneuploidy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28553959[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25483"	"2021-09-14"
"GENCC_000110-HGNC_3424-Orphanet_2855-HP_0000007-GENCC_100009"	"HGNC:3424"	"ERAL1"	"MONDO:0017312"	"Perrault syndrome"	"Orphanet:2855"	"Orphanet:2855"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3424"	"ERAL1"	"Orphanet:2855"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28449065[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25484"	"2021-09-14"
"GENCC_000110-HGNC_2661-Orphanet_363710-HP_0000006-GENCC_100009"	"HGNC:2661"	"DAB1"	"MONDO:0014410"	"spinocerebellar ataxia type 37"	"Orphanet:363710"	"Orphanet:363710"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2661"	"DAB1"	"Orphanet:363710"	"Spinocerebellar ataxia type 37"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28686858"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25485"	"2021-09-14"
"GENCC_000110-HGNC_7326-Orphanet_480536-HP_0000007-GENCC_100009"	"HGNC:7326"	"MSH3"	"MONDO:0018812"	"MSH3-related attenuated familial adenomatous polyposis"	"Orphanet:480536"	"Orphanet:480536"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7326"	"MSH3"	"Orphanet:480536"	"MSH3-related attenuated familial adenomatous polyposis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27476653[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25490"	"2021-09-14"
"GENCC_000110-HGNC_18712-Orphanet_2680-HP_0000007-GENCC_100009"	"HGNC:18712"	"LGI4"	"MONDO:0017049"	"hypomyelination neuropathy-arthrogryposis syndrome"	"Orphanet:2680"	"Orphanet:2680"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18712"	"LGI4"	"Orphanet:2680"	"Hypomyelination neuropathy-arthrogryposis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28318499[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25494"	"2021-09-14"
"GENCC_000110-HGNC_25740-Orphanet_231183-HP_0000007-GENCC_100009"	"HGNC:25740"	"CEP78"	"MONDO:0016485"	"Usher syndrome type 3"	"Orphanet:231183"	"Orphanet:231183"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25740"	"CEP78"	"Orphanet:231183"	"Usher syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27627988[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25499"	"2021-09-14"
"GENCC_000110-HGNC_14214-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:14214"	"CIC"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14214"	"CIC"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28288114[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25512"	"2021-09-14"
"GENCC_000110-HGNC_33188-Orphanet_100032-HP_0000006-GENCC_100009"	"HGNC:33188"	"AMTN"	"MONDO:0007538"	"amelogenesis imperfecta, type 3A"	"Orphanet:100032"	"Orphanet:100032"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:33188"	"AMTN"	"Orphanet:100032"	"Hypocalcified amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27412008[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25513"	"2021-09-14"
"GENCC_000110-HGNC_20730-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:20730"	"ARMC9"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20730"	"ARMC9"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28625504[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25514"	"2021-09-14"
"GENCC_000110-HGNC_10256-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:10256"	"ROR1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10256"	"ROR1"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27162350[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25518"	"2021-09-14"
"GENCC_000110-HGNC_12738-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:12738"	"WBP2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12738"	"WBP2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26881968[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25521"	"2021-09-14"
"GENCC_000110-HGNC_13941-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:13941"	"SLC44A4"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13941"	"SLC44A4"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28013291[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25522"	"2021-09-14"
"GENCC_000110-HGNC_26551-Orphanet_731-HP_0000007-GENCC_100009"	"HGNC:26551"	"DZIP1L"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"Orphanet:731"	"Orphanet:731"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26551"	"DZIP1L"	"Orphanet:731"	"Autosomal recessive polycystic kidney disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28530676[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25523"	"2021-09-14"
"GENCC_000110-HGNC_21296-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:21296"	"EPS8L2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21296"	"EPS8L2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26282398[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25524"	"2021-09-14"
"GENCC_000110-HGNC_20606-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:20606"	"IFT88"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20606"	"IFT88"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29978320[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25535"	"2021-09-14"
"GENCC_000110-HGNC_23352-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:23352"	"PIBF1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23352"	"PIBF1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26167768[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25536"	"2021-09-14"
"GENCC_000110-HGNC_2460-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:2460"	"CSNK2B"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2460"	"CSNK2B"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28585349[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25556"	"2021-09-14"
"GENCC_000110-HGNC_2309-Orphanet_352582-HP_0000007-GENCC_100009"	"HGNC:2309"	"CPLX1"	"MONDO:0011506"	"familial infantile myoclonic epilepsy"	"Orphanet:352582"	"Orphanet:352582"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2309"	"CPLX1"	"Orphanet:352582"	"Familial infantile myoclonic epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28422131[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25557"	"2021-09-14"
"GENCC_000110-HGNC_25789-Orphanet_811-HP_0000007-GENCC_100009"	"HGNC:25789"	"EFL1"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"Orphanet:811"	"Orphanet:811"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25789"	"EFL1"	"Orphanet:811"	"Shwachman-Diamond syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28331068[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25558"	"2021-09-14"
"GENCC_000110-HGNC_17209-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:17209"	"STK36"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17209"	"STK36"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28543983[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25559"	"2021-09-14"
"GENCC_000110-HGNC_24102-Orphanet_231183-HP_0000007-GENCC_100009"	"HGNC:24102"	"ARSG"	"MONDO:0016485"	"Usher syndrome type 3"	"Orphanet:231183"	"Orphanet:231183"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24102"	"ARSG"	"Orphanet:231183"	"Usher syndrome type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29300381[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25566"	"2021-09-14"
"GENCC_000110-HGNC_3337-Orphanet_493342-HP_0000006-GENCC_100009"	"HGNC:3337"	"ADGRE2"	"MONDO:0007447"	"autosomal dominant vibratory urticaria"	"Orphanet:493342"	"Orphanet:493342"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3337"	"ADGRE2"	"Orphanet:493342"	"Vibratory urticaria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26841242[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25569"	"2021-09-14"
"GENCC_000110-HGNC_11532-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:11532"	"TAF1A"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11532"	"TAF1A"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28472305[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25572"	"2021-09-14"
"GENCC_000110-HGNC_29171-Orphanet_93334-HP_0000007-GENCC_100009"	"HGNC:29171"	"IQCE"	"MONDO:0019673"	"postaxial polydactyly type A"	"Orphanet:93334"	"Orphanet:93334"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29171"	"IQCE"	"Orphanet:93334"	"Postaxial polydactyly type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26394607[PMID]_28488682[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25574"	"2021-09-14"
"GENCC_000110-HGNC_30563-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:30563"	"PARS2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30563"	"PARS2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29915213[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25581"	"2021-09-14"
"GENCC_000110-HGNC_23656-Orphanet_505216-HP_0000007-GENCC_100009"	"HGNC:23656"	"TIMM50"	"MONDO:0044724"	"3-methylglutaconic aciduria type 9"	"Orphanet:505216"	"Orphanet:505216"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23656"	"TIMM50"	"Orphanet:505216"	"3-methylglutaconic aciduria type 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27573165[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25584"	"2021-09-14"
"GENCC_000110-HGNC_19088-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:19088"	"ASH1L"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19088"	"ASH1L"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"23033978[PMID]_28394464[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25628"	"2021-09-14"
"GENCC_000110-HGNC_20751-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:20751"	"WDFY3"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20751"	"WDFY3"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31327001[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25632"	"2021-09-14"
"GENCC_000110-HGNC_26576-Orphanet_496686-HP_0000007-GENCC_100009"	"HGNC:26576"	"KY"	"MONDO:0044647"	"kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"	"Orphanet:496686"	"Orphanet:496686"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26576"	"KY"	"Orphanet:496686"	"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27484770[PMID]_27485408[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25638"	"2021-09-14"
"GENCC_000110-HGNC_26576-Orphanet_496689-HP_0000007-GENCC_100009"	"HGNC:26576"	"KY"	"MONDO:0044648"	"kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"	"Orphanet:496689"	"Orphanet:496689"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26576"	"KY"	"Orphanet:496689"	"Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28488683[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25638"	"2021-09-14"
"GENCC_000110-HGNC_26821-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:26821"	"CCDC141"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26821"	"CCDC141"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28324054[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25646"	"2021-09-14"
"GENCC_000110-HGNC_10344-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10344"	"RPL35"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10344"	"RPL35"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28280134[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25647"	"2021-09-14"
"GENCC_000110-HGNC_10310-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10310"	"RPL18"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10310"	"RPL18"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28280134[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25648"	"2021-09-14"
"GENCC_000110-HGNC_13188-Orphanet_404466-HP_0000006-GENCC_100009"	"HGNC:13188"	"ZP2"	"MONDO:0014342"	"female infertility due to zona pellucida defect"	"Orphanet:404466"	"Orphanet:404466"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13188"	"ZP2"	"Orphanet:404466"	"Female infertility due to zona pellucida defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28646452[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25649"	"2021-09-14"
"GENCC_000110-HGNC_13189-Orphanet_404466-HP_0000006-GENCC_100009"	"HGNC:13189"	"ZP3"	"MONDO:0014342"	"female infertility due to zona pellucida defect"	"Orphanet:404466"	"Orphanet:404466"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13189"	"ZP3"	"Orphanet:404466"	"Female infertility due to zona pellucida defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28886340[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25650"	"2021-09-14"
"GENCC_000110-HGNC_10760-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:10760"	"SET"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10760"	"SET"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29688601[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25729"	"2021-09-14"
"GENCC_000110-HGNC_17123-Orphanet_777-HP_0001417-GENCC_100009"	"HGNC:17123"	"SLC9A7"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"Orphanet:777"	"Orphanet:777"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:17123"	"SLC9A7"	"Orphanet:777"	"X-linked non-syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30335141[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25769"	"2021-09-14"
"GENCC_000110-HGNC_30172-Orphanet_500533-HP_0000007-GENCC_100009"	"HGNC:30172"	"STRADA"	"MONDO:0012611"	"polyhydramnios, megalencephaly, and symptomatic epilepsy"	"Orphanet:500533"	"Orphanet:500533"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30172"	"STRADA"	"Orphanet:500533"	"Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28688840[PMID]_27170158[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25770"	"2021-09-14"
"GENCC_000110-HGNC_12852-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:12852"	"YWHAG"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12852"	"YWHAG"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28777935[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25774"	"2021-09-14"
"GENCC_000110-HGNC_10249-Orphanet_95496-HP_0000006-GENCC_100009"	"HGNC:10249"	"ROBO1"	"MONDO:0019828"	"pituitary stalk interruption syndrome"	"Orphanet:95496"	"Orphanet:95496"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10249"	"ROBO1"	"Orphanet:95496"	"Pituitary stalk interruption syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28402530[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25795"	"2021-09-14"
"GENCC_000110-HGNC_1362-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:1362"	"FRRS1L"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1362"	"FRRS1L"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28675162[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25818"	"2021-09-14"
"GENCC_000110-HGNC_18028-Orphanet_2065-HP_0000007-GENCC_100009"	"HGNC:18028"	"OSGEP"	"MONDO:0009627"	"Galloway-Mowat syndrome"	"Orphanet:2065"	"Orphanet:2065"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18028"	"OSGEP"	"Orphanet:2065"	"Galloway-Mowat syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28805828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25837"	"2021-09-14"
"GENCC_000110-HGNC_16197-Orphanet_2065-HP_0000007-GENCC_100009"	"HGNC:16197"	"TP53RK"	"MONDO:0009627"	"Galloway-Mowat syndrome"	"Orphanet:2065"	"Orphanet:2065"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16197"	"TP53RK"	"Orphanet:2065"	"Galloway-Mowat syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28805828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25838"	"2021-09-14"
"GENCC_000110-HGNC_24259-Orphanet_2065-HP_0000007-GENCC_100009"	"HGNC:24259"	"TPRKB"	"MONDO:0009627"	"Galloway-Mowat syndrome"	"Orphanet:2065"	"Orphanet:2065"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24259"	"TPRKB"	"Orphanet:2065"	"Galloway-Mowat syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28805828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25839"	"2021-09-14"
"GENCC_000110-HGNC_26058-Orphanet_2065-HP_0000007-GENCC_100009"	"HGNC:26058"	"LAGE3"	"MONDO:0009627"	"Galloway-Mowat syndrome"	"Orphanet:2065"	"Orphanet:2065"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26058"	"LAGE3"	"Orphanet:2065"	"Galloway-Mowat syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28805828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25840"	"2021-09-14"
"GENCC_000110-HGNC_28569-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:28569"	"MEIOB"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28569"	"MEIOB"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28206990[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25845"	"2021-09-14"
"GENCC_000110-HGNC_25507-Orphanet_3472-HP_0000007-GENCC_100009"	"HGNC:25507"	"VAC14"	"MONDO:0008995"	"Yunis-Varon syndrome"	"Orphanet:3472"	"Orphanet:3472"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25507"	"VAC14"	"Orphanet:3472"	"Yunis-Varon syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28635952[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25848"	"2021-09-14"
"GENCC_000110-HGNC_4400-Orphanet_215-HP_0000006-GENCC_100009"	"HGNC:4400"	"GNB3"	"MONDO:0016293"	"congenital stationary night blindness"	"Orphanet:215"	"Orphanet:215"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4400"	"GNB3"	"Orphanet:215"	"Congenital stationary night blindness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27063057[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25858"	"2021-09-14"
"GENCC_000110-HGNC_29099-Orphanet_488642-HP_0000007-GENCC_100009"	"HGNC:29099"	"TELO2"	"MONDO:0014848"	"TELO2-related intellectual disability-neurodevelopmental disorder"	"Orphanet:488642"	"Orphanet:488642"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29099"	"TELO2"	"Orphanet:488642"	"TELO2-related intellectual disability-neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27132593[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25860"	"2021-09-14"
"GENCC_000110-HGNC_25539-Orphanet_84-HP_0000007-GENCC_100009"	"HGNC:25539"	"RFWD3"	"MONDO:0019391"	"Fanconi anemia"	"Orphanet:84"	"Orphanet:84"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25539"	"RFWD3"	"Orphanet:84"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28691929[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25903"	"2021-09-14"
"GENCC_000110-HGNC_20122-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:20122"	"TDRD9"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20122"	"TDRD9"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28536242[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25904"	"2021-09-14"
"GENCC_000110-HGNC_13081-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:13081"	"SCAPER"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13081"	"SCAPER"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28794130[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25905"	"2021-09-14"
"GENCC_000110-HGNC_13081-Orphanet_110-HP_0000007-GENCC_100009"	"HGNC:13081"	"SCAPER"	"MONDO:0015229"	"Bardet-Biedl syndrome"	"Orphanet:110"	"Orphanet:110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13081"	"SCAPER"	"Orphanet:110"	"Bardet-Biedl syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30723319[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25905"	"2021-09-14"
"GENCC_000110-HGNC_1460-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:1460"	"CAMK2A"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1460"	"CAMK2A"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100089[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25937"	"2021-09-14"
"GENCC_000110-HGNC_1461-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:1461"	"CAMK2B"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1461"	"CAMK2B"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100089[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"25938"	"2021-09-14"
"GENCC_000110-HGNC_8772-Orphanet_494541-HP_0000006-GENCC_100009"	"HGNC:8772"	"PDE10A"	"MONDO:0044332"	"childhood-onset benign chorea with striatal involvement"	"Orphanet:494541"	"Orphanet:494541"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8772"	"PDE10A"	"Orphanet:494541"	"Childhood-onset benign chorea with striatal involvement"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27058446[PMID]_27058447[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26009"	"2021-09-14"
"GENCC_000110-HGNC_2265-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:2265"	"COX4I1"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2265"	"COX4I1"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31290619[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26010"	"2021-09-14"
"GENCC_000110-HGNC_17097-Orphanet_494439-HP_0000007-GENCC_100009"	"HGNC:17097"	"EXOSC2"	"MONDO:0044634"	"retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"	"Orphanet:494439"	"Orphanet:494439"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17097"	"EXOSC2"	"Orphanet:494439"	"Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26843489[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26020"	"2021-09-14"
"GENCC_000110-HGNC_21042-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:21042"	"NUS1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:21042"	"NUS1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100083[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26036"	"2021-09-14"
"GENCC_000110-HGNC_9314-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:9314"	"PPP3CA"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9314"	"PPP3CA"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28942967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26038"	"2021-09-14"
"GENCC_000110-HGNC_9314-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:9314"	"PPP3CA"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9314"	"PPP3CA"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28942967[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26038"	"2021-09-14"
"GENCC_000110-HGNC_9314-Orphanet_565858-HP_0000006-GENCC_100009"	"HGNC:9314"	"PPP3CA"	"MONDO:0032642"	"arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"	"Orphanet:565858"	"Orphanet:565858"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9314"	"PPP3CA"	"Orphanet:565858"	"Craniosynostosis-microretrognathia-severe intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29432562[PMID]_28942967[PMID]_30254215[PMID]_30455226[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26038"	"2021-09-14"
"GENCC_000110-HGNC_20662-Orphanet_2095-HP_0000007-GENCC_100009"	"HGNC:20662"	"SLC25A24"	"MONDO:0012853"	"Fontaine progeroid syndrome"	"Orphanet:2095"	"Orphanet:2095"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20662"	"SLC25A24"	"Orphanet:2095"	"Gorlin-Chaudhry-Moss syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100093[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26039"	"2021-09-14"
"GENCC_000110-HGNC_26899-Orphanet_98892-HP_0000006-GENCC_100009"	"HGNC:26899"	"TMTC3"	"MONDO:0020341"	"periventricular nodular heterotopia"	"Orphanet:98892"	"Orphanet:98892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26899"	"TMTC3"	"Orphanet:98892"	"Periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28973161[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26043"	"2021-09-14"
"GENCC_000110-HGNC_4317-Orphanet_289-HP_0000007-GENCC_100009"	"HGNC:4317"	"GLI1"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"Orphanet:289"	"Orphanet:289"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4317"	"GLI1"	"Orphanet:289"	"Ellis Van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28973407[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26044"	"2021-09-14"
"GENCC_000110-HGNC_4317-Orphanet_93334-HP_0000007-GENCC_100009"	"HGNC:4317"	"GLI1"	"MONDO:0019673"	"postaxial polydactyly type A"	"Orphanet:93334"	"Orphanet:93334"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4317"	"GLI1"	"Orphanet:93334"	"Postaxial polydactyly type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31549748[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26044"	"2021-09-14"
"GENCC_000110-HGNC_4317-Orphanet_93339-HP_0000006-GENCC_100009"	"HGNC:4317"	"GLI1"	"MONDO:0008269"	"polydactyly of a biphalangeal thumb"	"Orphanet:93339"	"Orphanet:93339"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4317"	"GLI1"	"Orphanet:93339"	"Polydactyly of a biphalangeal thumb"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30620395[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26044"	"2021-09-14"
"GENCC_000110-HGNC_2955-Orphanet_238722-HP_0000006-GENCC_100009"	"HGNC:2955"	"DNAL4"	"MONDO:0016558"	"familial congenital mirror movements"	"Orphanet:238722"	"Orphanet:238722"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2955"	"DNAL4"	"Orphanet:238722"	"Familial congenital mirror movements"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25098561[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26045"	"2021-09-14"
"GENCC_000110-HGNC_219-Orphanet_2136-HP_0000007-GENCC_100009"	"HGNC:219"	"ADAMTS3"	"MONDO:0016256"	"Hennekam syndrome"	"Orphanet:2136"	"Orphanet:2136"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:219"	"ADAMTS3"	"Orphanet:2136"	"Hennekam syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28985353[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26046"	"2021-09-14"
"GENCC_000110-HGNC_1750-Orphanet_1299-HP_0000007-GENCC_100009"	"HGNC:1750"	"CDH11"	"MONDO:0008885"	"Elsahy-Waters syndrome"	"Orphanet:1299"	"Orphanet:1299"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1750"	"CDH11"	"Orphanet:1299"	"Branchioskeletogenital syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28988429[PMID]_29271567[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26055"	"2021-09-14"
"GENCC_000110-HGNC_13879-Orphanet_661-HP_0000006-GENCC_100009"	"HGNC:13879"	"MYO1H"	"MONDO:0008852"	"congenital central hypoventilation syndrome"	"Orphanet:661"	"Orphanet:661"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13879"	"MYO1H"	"Orphanet:661"	"Ondine syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28779001[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26056"	"2021-09-14"
"GENCC_000110-HGNC_33276-Orphanet_263548-HP_0000007-GENCC_100009"	"HGNC:33276"	"FLG2"	"MONDO:0014555"	"peeling skin syndrome type A"	"Orphanet:263548"	"Orphanet:263548"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33276"	"FLG2"	"Orphanet:263548"	"Peeling skin syndrome type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28884927[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26057"	"2021-09-14"
"GENCC_000110-HGNC_694-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:694"	"ARL3"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:694"	"ARL3"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"26964041[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26088"	"2021-09-14"
"GENCC_000110-HGNC_694-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:694"	"ARL3"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:694"	"ARL3"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30269812[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26088"	"2021-09-14"
"GENCC_000110-HGNC_11301-Orphanet_486-HP_0000006-GENCC_100009"	"HGNC:11301"	"SRP54"	"MONDO:0008742"	"autosomal dominant severe congenital neutropenia"	"Orphanet:486"	"Orphanet:486"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11301"	"SRP54"	"Orphanet:486"	"Autosomal dominant severe congenital neutropenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29914977[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26096"	"2021-09-14"
"GENCC_000110-HGNC_11301-Orphanet_811-HP_0000007-GENCC_100009"	"HGNC:11301"	"SRP54"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"Orphanet:811"	"Orphanet:811"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11301"	"SRP54"	"Orphanet:811"	"Shwachman-Diamond syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28972538[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26096"	"2021-09-14"
"GENCC_000110-HGNC_18008-Orphanet_1507-HP_0000007-GENCC_100009"	"HGNC:18008"	"NXN"	"MONDO:0009999"	"autosomal recessive Robinow syndrome"	"Orphanet:1507"	"Orphanet:1507"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18008"	"NXN"	"Orphanet:1507"	"Autosomal recessive Robinow syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29276006[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26136"	"2021-09-14"
"GENCC_000110-HGNC_2033-Orphanet_528105-HP_0000007-GENCC_100009"	"HGNC:2033"	"CLDN10"	"MONDO:0060564"	"HELIX syndrome"	"Orphanet:528105"	"Orphanet:528105"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2033"	"CLDN10"	"Orphanet:528105"	"Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28674042[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26170"	"2021-09-14"
"GENCC_000110-HGNC_11107-Orphanet_169142-HP_0000007-GENCC_100009"	"HGNC:11107"	"SMARCD2"	"MONDO:0009506"	"specific granule deficiency"	"Orphanet:169142"	"Orphanet:169142"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11107"	"SMARCD2"	"Orphanet:169142"	"Recurrent infection due to specific granule deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28369036[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26299"	"2021-09-14"
"GENCC_000110-HGNC_2232-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:2232"	"COPB2"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2232"	"COPB2"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29036432[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26343"	"2021-09-14"
"GENCC_000110-HGNC_4250-Orphanet_33573-HP_0000007-GENCC_100009"	"HGNC:4250"	"GGT1"	"MONDO:0009285"	"gamma-glutamyl transpeptidase deficiency"	"Orphanet:33573"	"Orphanet:33573"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4250"	"GGT1"	"Orphanet:33573"	"Gamma-glutamyl transpeptidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29483667[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26453"	"2021-09-14"
"GENCC_000110-HGNC_19338-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:19338"	"CDK19"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19338"	"CDK19"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32330417[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26469"	"2021-09-14"
"GENCC_000110-HGNC_11106-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:11106"	"SMARCD1"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11106"	"SMARCD1"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30879640[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26514"	"2021-09-14"
"GENCC_000110-HGNC_29958-Orphanet_313-HP_0000007-GENCC_100009"	"HGNC:29958"	"SDR9C7"	"MONDO:0017778"	"lamellar ichthyosis"	"Orphanet:313"	"Orphanet:313"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29958"	"SDR9C7"	"Orphanet:313"	"Lamellar ichthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28906551[PMID]_28369735[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26522"	"2021-09-14"
"GENCC_000110-HGNC_24634-Orphanet_2440-HP_0000006-GENCC_100009"	"HGNC:24634"	"EPS15L1"	"MONDO:0016576"	"split hand-foot malformation"	"Orphanet:2440"	"Orphanet:2440"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24634"	"EPS15L1"	"Orphanet:2440"	"Isolated split hand-split foot malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29023680[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26524"	"2021-09-14"
"GENCC_000110-HGNC_9787-Orphanet_75249-HP_0000006-GENCC_100009"	"HGNC:9787"	"KIF20A"	"MONDO:0019150"	"familial isolated restrictive cardiomyopathy"	"Orphanet:75249"	"Orphanet:75249"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9787"	"KIF20A"	"Orphanet:75249"	"Familial isolated restrictive cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29357359[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26526"	"2021-09-14"
"GENCC_000110-HGNC_26620-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:26620"	"SPAG17"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26620"	"SPAG17"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28548327[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26527"	"2021-09-14"
"GENCC_000110-HGNC_23140-Orphanet_231160-HP_0000006-GENCC_100009"	"HGNC:23140"	"ANGPTL6"	"MONDO:0016483"	"intracranial berry aneurysm"	"Orphanet:231160"	"Orphanet:231160"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23140"	"ANGPTL6"	"Orphanet:231160"	"Familial cerebral saccular aneurysm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29304371[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26530"	"2021-09-14"
"GENCC_000110-HGNC_25118-Orphanet_500062-HP_0000007-GENCC_100009"	"HGNC:25118"	"OTULIN"	"MONDO:0014912"	"autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive"	"Orphanet:500062"	"Orphanet:500062"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25118"	"OTULIN"	"Orphanet:500062"	"Infantile-onset periodic fever-panniculitis-dermatosis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27686184[PMID]_27559085[PMID]_27523608[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26531"	"2021-09-14"
"GENCC_000110-HGNC_25169-Orphanet_500188-HP_0001417-GENCC_100009"	"HGNC:25169"	"GPRASP2"	"MONDO:0044702"	"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"	"Orphanet:500188"	"Orphanet:500188"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:25169"	"GPRASP2"	"Orphanet:500188"	"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28096187[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26532"	"2021-09-14"
"GENCC_000110-HGNC_19321-Orphanet_527497-HP_0000007-GENCC_100009"	"HGNC:19321"	"NKX6-2"	"MONDO:0033043"	"spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"	"Orphanet:527497"	"Orphanet:527497"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19321"	"NKX6-2"	"Orphanet:527497"	"NKX6-2-related autosomal recessive hypomyelinating leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28575651[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26535"	"2021-09-14"
"GENCC_000110-HGNC_12511-Orphanet_500180-HP_0000006-GENCC_100009"	"HGNC:12511"	"UBTF"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"Orphanet:500180"	"Orphanet:500180"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12511"	"UBTF"	"Orphanet:500180"	"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28777933[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26539"	"2021-09-14"
"GENCC_000110-HGNC_3705-Orphanet_500095-HP_0000007-GENCC_100009"	"HGNC:3705"	"FIBP"	"MONDO:0014918"	"tall stature-intellectual disability-renal anomalies syndrome"	"Orphanet:500095"	"Orphanet:500095"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3705"	"FIBP"	"Orphanet:500095"	"Tall stature-intellectual disability-renal anomalies syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27183861[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26540"	"2021-09-14"
"GENCC_000110-HGNC_1915-Orphanet_529965-HP_0000006-GENCC_100009"	"HGNC:1915"	"CHD1"	"MONDO:0060568"	"Pilarowski-Bjornsson syndrome"	"Orphanet:529965"	"Orphanet:529965"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1915"	"CHD1"	"Orphanet:529965"	"Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28866611[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26610"	"2021-09-14"
"GENCC_000110-HGNC_3395-Orphanet_137667-HP_0000006-GENCC_100009"	"HGNC:3395"	"EPHB4"	"MONDO:0012016"	"capillary malformation-arteriovenous malformation syndrome"	"Orphanet:137667"	"Orphanet:137667"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3395"	"EPHB4"	"Orphanet:137667"	"Capillary malformation-arteriovenous malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28687708[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26623"	"2021-09-14"
"GENCC_000110-HGNC_3430-Orphanet_388-HP_0000006-GENCC_100009"	"HGNC:3430"	"ERBB2"	"MONDO:0018309"	"Hirschsprung disease"	"Orphanet:388"	"Orphanet:388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3430"	"ERBB2"	"Orphanet:388"	"Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33497358[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26625"	"2021-09-14"
"GENCC_000110-HGNC_15840-Orphanet_589618-HP_0000006-GENCC_100009"	"HGNC:15840"	"KMT2B"	"MONDO:0015004"	"dystonia 28, childhood-onset"	"Orphanet:589618"	"Orphanet:589618"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15840"	"KMT2B"	"Orphanet:589618"	"Dystonia 28"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27992417[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26669"	"2021-09-14"
"GENCC_000110-HGNC_8971-Orphanet_557003-HP_0000007-GENCC_100009"	"HGNC:8971"	"PIK3C2A"	"MONDO:0034145"	"oculocerebrodental syndrome"	"Orphanet:557003"	"Orphanet:557003"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8971"	"PIK3C2A"	"Orphanet:557003"	"Oculocerebrodental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31034465[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26714"	"2021-09-14"
"GENCC_000110-HGNC_21876-Orphanet_464724-HP_0000007-GENCC_100009"	"HGNC:21876"	"RINT1"	"MONDO:0014659"	"infantile liver failure syndrome 2"	"Orphanet:464724"	"Orphanet:464724"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21876"	"RINT1"	"Orphanet:464724"	"Fever-associated acute infantile liver failure syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31204009[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26738"	"2021-09-14"
"GENCC_000110-HGNC_10019-Orphanet_529977-HP_0000007-GENCC_100009"	"HGNC:10019"	"RIPK1"	"MONDO:0033968"	"immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"	"Orphanet:529977"	"Orphanet:529977"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10019"	"RIPK1"	"Orphanet:529977"	"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30026316[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26739"	"2021-09-14"
"GENCC_000110-HGNC_12347-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:12347"	"TRRAP"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12347"	"TRRAP"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31231791[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26771"	"2021-09-14"
"GENCC_000110-HGNC_1329-Orphanet_505242-HP_0000007-GENCC_100009"	"HGNC:1329"	"SLC30A9"	"MONDO:0044726"	"psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"	"Orphanet:505242"	"Orphanet:505242"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1329"	"SLC30A9"	"Orphanet:505242"	"Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28334855[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26793"	"2021-09-14"
"GENCC_000110-HGNC_29947-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:29947"	"TRAK1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29947"	"TRAK1"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28364549[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26795"	"2021-09-14"
"GENCC_000110-HGNC_2665-Orphanet_566175-HP_0000007-GENCC_100009"	"HGNC:2665"	"CD55"	"MONDO:0009174"	"protein-losing enteropathy"	"Orphanet:566175"	"Orphanet:566175"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2665"	"CD55"	"Orphanet:566175"	"Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30565236[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26839"	"2021-09-14"
"GENCC_000110-HGNC_11968-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:11968"	"CNPY3"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11968"	"CNPY3"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29394991[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26928"	"2021-09-14"
"GENCC_000110-HGNC_2911-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:2911"	"DLST"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2911"	"DLST"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31051110[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26939"	"2021-09-14"
"GENCC_000110-HGNC_837-Orphanet_254913-HP_0000007-GENCC_100009"	"HGNC:837"	"ATP5F1D"	"MONDO:0014471"	"mitochondrial proton-transporting ATP synthase complex deficiency"	"Orphanet:254913"	"Orphanet:254913"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:837"	"ATP5F1D"	"Orphanet:254913"	"Isolated ATP synthase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29478781[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26945"	"2021-09-14"
"GENCC_000110-HGNC_12843-Orphanet_98676-HP_0000007-GENCC_100009"	"HGNC:12843"	"YME1L1"	"MONDO:0014753"	"autosomal recessive optic atrophy"	"Orphanet:98676"	"Orphanet:98676"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12843"	"YME1L1"	"Orphanet:98676"	"Autosomal recessive isolated optic atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27495975[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"26989"	"2021-09-14"
"GENCC_000110-HGNC_10981-Orphanet_29072-HP_0000006-GENCC_100009"	"HGNC:10981"	"SLC25A11"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"Orphanet:29072"	"Orphanet:29072"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10981"	"SLC25A11"	"Orphanet:29072"	"Hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29431636[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27036"	"2021-09-14"
"GENCC_000110-HGNC_3816-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:3816"	"FOXJ1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3816"	"FOXJ1"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31630787[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27070"	"2021-09-14"
"GENCC_000110-HGNC_6196-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:6196"	"JARID2"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6196"	"JARID2"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33077894[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27076"	"2021-09-14"
"GENCC_000110-HGNC_7227-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:7227"	"MRAS"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7227"	"MRAS"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28289718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27082"	"2021-09-14"
"GENCC_000110-HGNC_28952-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:28952"	"NCAPD3"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28952"	"NCAPD3"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27737959[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27084"	"2021-09-14"
"GENCC_000110-HGNC_29205-Orphanet_1143-HP_0000007-GENCC_100009"	"HGNC:29205"	"ERGIC1"	"MONDO:0008823"	"arthrogryposis multiplex congenita 2, neurogenic type"	"Orphanet:1143"	"Orphanet:1143"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29205"	"ERGIC1"	"Orphanet:1143"	"Neurogenic arthrogryposis multiplex congenita"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28317099[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27129"	"2021-09-14"
"GENCC_000110-HGNC_9964-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:9964"	"DPF2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9964"	"DPF2"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29429572[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27130"	"2021-09-14"
"GENCC_000110-HGNC_28188-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:28188"	"CFAP300"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28188"	"CFAP300"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29727692[PMID]_29727693[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27134"	"2021-09-14"
"GENCC_000110-HGNC_4079-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:4079"	"GABRA5"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4079"	"GABRA5"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31056671[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27143"	"2021-09-14"
"GENCC_000110-HGNC_20091-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:20091"	"AK7"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20091"	"AK7"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29365104[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27157"	"2021-09-14"
"GENCC_000110-HGNC_25903-Orphanet_3197-HP_0000006-GENCC_100009"	"HGNC:25903"	"ATAD1"	"MONDO:0021022"	"hereditary hyperekplexia"	"Orphanet:3197"	"Orphanet:3197"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25903"	"ATAD1"	"Orphanet:3197"	"Hereditary hyperekplexia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29390050[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27158"	"2021-09-14"
"GENCC_000110-HGNC_11738-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:11738"	"TEX15"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11738"	"TEX15"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29048736[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27159"	"2021-09-14"
"GENCC_000110-HGNC_13760-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:13760"	"CYFIP2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13760"	"CYFIP2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29534297[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27160"	"2021-09-14"
"GENCC_000110-HGNC_28583-Orphanet_3301-HP_0000007-GENCC_100009"	"HGNC:28583"	"RSPO2"	"MONDO:0010110"	"tetraamelia-multiple malformations syndrome"	"Orphanet:3301"	"Orphanet:3301"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28583"	"RSPO2"	"Orphanet:3301"	"Tetraamelia-multiple malformations syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29769720[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27161"	"2021-09-14"
"GENCC_000110-HGNC_28908-Orphanet_508523-HP_0000007-GENCC_100009"	"HGNC:28908"	"DNAJC12"	"MONDO:0044304"	"hyperphenylalaninemia due to DNAJC12 deficiency"	"Orphanet:508523"	"Orphanet:508523"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28908"	"DNAJC12"	"Orphanet:508523"	"Hyperphenylalaninemia due to DNAJC12 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28132689[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27165"	"2021-09-14"
"GENCC_000110-HGNC_25947-Orphanet_508529-HP_0000006-GENCC_100009"	"HGNC:25947"	"KLHL24"	"MONDO:0015006"	"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"	"Orphanet:508529"	"Orphanet:508529"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25947"	"KLHL24"	"Orphanet:508529"	"Intermediate epidermolysis bullosa simplex with cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27889062[PMID]_27798626[PMID]_28532758[PMID]_29574966[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27166"	"2021-09-14"
"GENCC_000110-HGNC_26107-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:26107"	"CFAP69"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26107"	"CFAP69"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29606301[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27179"	"2021-09-14"
"GENCC_000110-HGNC_17271-Orphanet_648-HP_0000006-GENCC_100009"	"HGNC:17271"	"RRAS2"	"MONDO:0018997"	"Noonan syndrome"	"Orphanet:648"	"Orphanet:648"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17271"	"RRAS2"	"Orphanet:648"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31130285[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27286"	"2021-09-14"
"GENCC_000110-HGNC_8776-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:8776"	"PDE1C"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8776"	"PDE1C"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29860631[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27306"	"2021-09-14"
"GENCC_000110-HGNC_348-Orphanet_791-HP_0000006-GENCC_100009"	"HGNC:348"	"AHR"	"MONDO:0019200"	"retinitis pigmentosa"	"Orphanet:791"	"Orphanet:791"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:348"	"AHR"	"Orphanet:791"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29726989[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27307"	"2021-09-14"
"GENCC_000110-HGNC_16384-Orphanet_654-HP_0000006-GENCC_100009"	"HGNC:16384"	"TRIM28"	"MONDO:0019004"	"kidney Wilms tumor"	"Orphanet:654"	"Orphanet:654"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16384"	"TRIM28"	"Orphanet:654"	"Nephroblastoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29912901[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27308"	"2021-09-14"
"GENCC_000110-HGNC_25686-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:25686"	"PPCS"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25686"	"PPCS"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29754768[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27309"	"2021-09-14"
"GENCC_000110-HGNC_9137-Orphanet_2254-HP_0000007-GENCC_100009"	"HGNC:9137"	"EXOSC9"	"MONDO:0016396"	"pontocerebellar hypoplasia type 1"	"Orphanet:2254"	"Orphanet:2254"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9137"	"EXOSC9"	"Orphanet:2254"	"Pontocerebellar hypoplasia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29727687[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27313"	"2021-09-14"
"GENCC_000110-HGNC_31750-Orphanet_86814-HP_0000006-GENCC_100009"	"HGNC:31750"	"SAMD12"	"MONDO:0019448"	"benign adult familial myoclonic epilepsy"	"Orphanet:86814"	"Orphanet:86814"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:31750"	"SAMD12"	"Orphanet:86814"	"Benign adult familial myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29939203[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27335"	"2021-09-14"
"GENCC_000110-HGNC_9878-Orphanet_3261-HP_0000006-GENCC_100009"	"HGNC:9878"	"RASGRP1"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"Orphanet:3261"	"Orphanet:3261"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9878"	"RASGRP1"	"Orphanet:3261"	"Autoimmune lymphoproliferative syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29155103[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27337"	"2021-09-14"
"GENCC_000110-HGNC_20759-Orphanet_369852-HP_0000007-GENCC_100009"	"HGNC:20759"	"RBSN"	"MONDO:0014118"	"congenital neutropenia-myelofibrosis-nephromegaly syndrome"	"Orphanet:369852"	"Orphanet:369852"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20759"	"RBSN"	"Orphanet:369852"	"Congenital neutropenia-myelofibrosis-nephromegaly syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29784638[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27384"	"2021-09-14"
"GENCC_000110-HGNC_23375-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:23375"	"GAPVD1"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23375"	"GAPVD1"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29959197[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27385"	"2021-09-14"
"GENCC_000110-HGNC_20763-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:20763"	"ANKFY1"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20763"	"ANKFY1"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29959197[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27386"	"2021-09-14"
"GENCC_000110-HGNC_6836-Orphanet_98892-HP_0000006-GENCC_100009"	"HGNC:6836"	"MAP1B"	"MONDO:0020341"	"periventricular nodular heterotopia"	"Orphanet:98892"	"Orphanet:98892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6836"	"MAP1B"	"Orphanet:98892"	"Periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29738522[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27387"	"2021-09-14"
"GENCC_000110-HGNC_13635-Orphanet_329242-HP_0000007-GENCC_100009"	"HGNC:13635"	"PLVAP"	"MONDO:0014375"	"congenital diarrhea 7 with exudative enteropathy"	"Orphanet:329242"	"Orphanet:329242"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13635"	"PLVAP"	"Orphanet:329242"	"Congenital chronic diarrhea with protein-losing enteropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29661969[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27388"	"2021-09-14"
"GENCC_000110-HGNC_3496-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:3496"	"MPZL2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3496"	"MPZL2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29961571[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27496"	"2021-09-14"
"GENCC_000110-HGNC_4796-Orphanet_521438-HP_0000007-GENCC_100009"	"HGNC:4796"	"HAAO"	"MONDO:0020831"	"congenital vertebral-cardiac-renal anomalies syndrome"	"Orphanet:521438"	"Orphanet:521438"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4796"	"HAAO"	"Orphanet:521438"	"Congenital vertebral-cardiac-renal anomalies syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28792876[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27520"	"2021-09-14"
"GENCC_000110-HGNC_20858-Orphanet_521406-HP_0000007-GENCC_100009"	"HGNC:20858"	"SLC39A14"	"MONDO:0014864"	"hypermanganesemia with dystonia 2"	"Orphanet:521406"	"Orphanet:521406"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20858"	"SLC39A14"	"Orphanet:521406"	"Dystonia-parkinsonism-hypermanganesemia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29382362[PMID]_29685658[PMID]_27231142[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27526"	"2021-09-14"
"GENCC_000110-HGNC_14889-Orphanet_730-HP_0000006-GENCC_100009"	"HGNC:14889"	"DNAJB11"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"Orphanet:730"	"Orphanet:730"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14889"	"DNAJB11"	"Orphanet:730"	"Autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29706351[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27553"	"2021-09-14"
"GENCC_000110-HGNC_24124-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:24124"	"ACTL6A"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24124"	"ACTL6A"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29728705[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27590"	"2021-09-14"
"GENCC_000110-HGNC_15808-Orphanet_527450-HP_0000007-GENCC_100009"	"HGNC:15808"	"GZF1"	"MONDO:0060556"	"joint laxity, short stature, and myopia"	"Orphanet:527450"	"Orphanet:527450"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15808"	"GZF1"	"Orphanet:527450"	"Severe myopia-generalized joint laxity-short stature syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28475863[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27592"	"2021-09-14"
"GENCC_000110-HGNC_3642-Orphanet_542585-HP_0000007-GENCC_100009"	"HGNC:3642"	"FDXR"	"MONDO:0060582"	"auditory neuropathy-optic atrophy syndrome"	"Orphanet:542585"	"Orphanet:542585"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3642"	"FDXR"	"Orphanet:542585"	"Auditory neuropathy-optic atrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28965846[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27602"	"2021-09-14"
"GENCC_000110-HGNC_3642-Orphanet_543470-HP_0000007-GENCC_100009"	"HGNC:3642"	"FDXR"	"MONDO:0034092"	"optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"	"Orphanet:543470"	"Orphanet:543470"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3642"	"FDXR"	"Orphanet:543470"	"Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29040572[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27602"	"2021-09-14"
"GENCC_000110-HGNC_2279-Orphanet_254905-HP_0000007-GENCC_100009"	"HGNC:2279"	"COX6A2"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"Orphanet:254905"	"Orphanet:254905"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2279"	"COX6A2"	"Orphanet:254905"	"Isolated cytochrome C oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31155743[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27612"	"2021-09-14"
"GENCC_000110-HGNC_33551-Orphanet_2609-HP_0000007-GENCC_100009"	"HGNC:33551"	"NDUFAF8"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"Orphanet:2609"	"Orphanet:2609"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:33551"	"NDUFAF8"	"Orphanet:2609"	"Isolated complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31866046[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27615"	"2021-09-14"
"GENCC_000110-HGNC_8734-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:8734"	"NUP85"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8734"	"NUP85"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30179222[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27665"	"2021-09-14"
"GENCC_000110-HGNC_29929-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:29929"	"NUP37"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29929"	"NUP37"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30179222[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27666"	"2021-09-14"
"GENCC_000110-HGNC_14006-Orphanet_417-HP_0000007-GENCC_100009"	"HGNC:14006"	"TRPV6"	"MONDO:0009397"	"neonatal severe primary hyperparathyroidism"	"Orphanet:417"	"Orphanet:417"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14006"	"TRPV6"	"Orphanet:417"	"Neonatal severe primary hyperparathyroidism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29861107[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27667"	"2021-09-14"
"GENCC_000110-HGNC_652-Orphanet_98892-HP_0000006-GENCC_100009"	"HGNC:652"	"ARF1"	"MONDO:0020341"	"periventricular nodular heterotopia"	"Orphanet:98892"	"Orphanet:98892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:652"	"ARF1"	"Orphanet:98892"	"Periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28868155[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27691"	"2021-09-14"
"GENCC_000110-HGNC_30452-Orphanet_93334-HP_0000007-GENCC_100009"	"HGNC:30452"	"CIBAR1"	"MONDO:0019673"	"postaxial polydactyly type A"	"Orphanet:93334"	"Orphanet:93334"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30452"	"CIBAR1"	"Orphanet:93334"	"Postaxial polydactyly type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30395363[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27692"	"2021-09-14"
"GENCC_000110-HGNC_18017-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:18017"	"NUP160"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18017"	"NUP160"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30179222[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27693"	"2021-09-14"
"GENCC_000110-HGNC_18016-Orphanet_2065-HP_0000007-GENCC_100009"	"HGNC:18016"	"NUP133"	"MONDO:0009627"	"Galloway-Mowat syndrome"	"Orphanet:2065"	"Orphanet:2065"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18016"	"NUP133"	"Orphanet:2065"	"Galloway-Mowat syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30427554[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27694"	"2021-09-14"
"GENCC_000110-HGNC_18016-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:18016"	"NUP133"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18016"	"NUP133"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30179222[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27694"	"2021-09-14"
"GENCC_000110-HGNC_21675-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:21675"	"FSIP2"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:21675"	"FSIP2"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30137358[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27703"	"2021-09-14"
"GENCC_000110-HGNC_17754-Orphanet_231160-HP_0000006-GENCC_100009"	"HGNC:17754"	"THSD1"	"MONDO:0016483"	"intracranial berry aneurysm"	"Orphanet:231160"	"Orphanet:231160"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17754"	"THSD1"	"Orphanet:231160"	"Familial cerebral saccular aneurysm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27895300[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27768"	"2021-09-14"
"GENCC_000110-HGNC_17800-Orphanet_178506-HP_0000007-GENCC_100009"	"HGNC:17800"	"FARSB"	"MONDO:0100215"	"Rajab interstitial lung disease with brain calcifications 1"	"Orphanet:178506"	"Orphanet:178506"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17800"	"FARSB"	"Orphanet:178506"	"Brain calcification, Rajab type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30014610[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27769"	"2021-09-14"
"GENCC_000110-HGNC_30373-Orphanet_98994-HP_0000006-GENCC_100009"	"HGNC:30373"	"DNMBP"	"MONDO:0021548"	"total early-onset cataract"	"Orphanet:98994"	"Orphanet:98994"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30373"	"DNMBP"	"Orphanet:98994"	"Total early-onset cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30290152[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27772"	"2021-09-14"
"GENCC_000110-HGNC_28672-Orphanet_379-HP_0000007-GENCC_100009"	"HGNC:28672"	"CYBC1"	"MONDO:0018305"	"chronic granulomatous disease"	"Orphanet:379"	"Orphanet:379"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28672"	"CYBC1"	"Orphanet:379"	"Chronic granulomatous disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30361506[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27773"	"2021-09-14"
"GENCC_000110-HGNC_25430-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:25430"	"LRRC56"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25430"	"LRRC56"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30388400[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27774"	"2021-09-14"
"GENCC_000110-HGNC_28613-Orphanet_254688-HP_0000007-GENCC_100009"	"HGNC:28613"	"MEI1"	"MONDO:0016785"	"complete hydatidiform mole"	"Orphanet:254688"	"Orphanet:254688"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28613"	"MEI1"	"Orphanet:254688"	"Complete hydatidiform mole"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30388401[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27775"	"2021-09-14"
"GENCC_000110-HGNC_20990-Orphanet_3451-HP_0000006-GENCC_100009"	"HGNC:20990"	"PHACTR1"	"MONDO:0018097"	"infantile spasms"	"Orphanet:3451"	"Orphanet:3451"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20990"	"PHACTR1"	"Orphanet:3451"	"Infantile spasms syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30256902[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27777"	"2021-09-14"
"GENCC_000110-HGNC_4446-Orphanet_529665-HP_0000007-GENCC_100009"	"HGNC:4446"	"GPAA1"	"MONDO:0060627"	"glycosylphosphatidylinositol biosynthesis defect 15"	"Orphanet:529665"	"Orphanet:529665"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4446"	"GPAA1"	"Orphanet:529665"	"Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29100095[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27793"	"2021-09-14"
"GENCC_000110-HGNC_3581-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:3581"	"BPTF"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3581"	"BPTF"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28942966[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27796"	"2021-09-14"
"GENCC_000110-HGNC_9557-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:9557"	"PSMD12"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9557"	"PSMD12"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28132691[PMID]_30421579[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27829"	"2021-09-14"
"GENCC_000110-HGNC_17637-Orphanet_659-HP_0000006-GENCC_100009"	"HGNC:17637"	"PERP"	"MONDO:0019014"	"mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"Orphanet:659"	"Orphanet:659"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17637"	"PERP"	"Orphanet:659"	"Mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30321533[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27930"	"2021-09-14"
"GENCC_000110-HGNC_10389-Orphanet_124-HP_0000006-GENCC_100009"	"HGNC:10389"	"RPS15A"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"Orphanet:124"	"Orphanet:124"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10389"	"RPS15A"	"Orphanet:124"	"Blackfan-Diamond anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27909223[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27943"	"2021-09-14"
"GENCC_000110-HGNC_6023-Orphanet_302-HP_0000007-GENCC_100009"	"HGNC:6023"	"IL7"	"MONDO:0009176"	"epidermodysplasia verruciformis"	"Orphanet:302"	"Orphanet:302"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6023"	"IL7"	"Orphanet:302"	"Epidermodysplasia verruciformis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25981006[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"27944"	"2021-09-14"
"GENCC_000110-HGNC_2953-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:2953"	"DNAH9"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2953"	"DNAH9"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30471717[PMID]_30471718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28024"	"2021-09-14"
"GENCC_000110-HGNC_2953-Orphanet_101063-HP_0000006-GENCC_100009"	"HGNC:2953"	"DNAH9"	"MONDO:0010029"	"situs inversus"	"Orphanet:101063"	"Orphanet:101063"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2953"	"DNAH9"	"Orphanet:101063"	"Situs inversus totalis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30471718[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28024"	"2021-09-14"
"GENCC_000110-HGNC_15579-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:15579"	"TRIM8"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:15579"	"TRIM8"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30244534[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28025"	"2021-09-14"
"GENCC_000110-HGNC_13202-Orphanet_93592-HP_0000007-GENCC_100009"	"HGNC:13202"	"ADAMTS9"	"MONDO:0009728"	"nephronophthisis 1"	"Orphanet:93592"	"Orphanet:93592"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:13202"	"ADAMTS9"	"Orphanet:93592"	"Juvenile nephronophthisis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30609407[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28029"	"2021-09-14"
"GENCC_000110-HGNC_8657-Orphanet_319192-HP_0000007-GENCC_100009"	"HGNC:8657"	"PCDH12"	"MONDO:0017868"	"diencephalic-mesencephalic junction dysplasia"	"Orphanet:319192"	"Orphanet:319192"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8657"	"PCDH12"	"Orphanet:319192"	"Diencephalic-mesencephalic junction dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30178464[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28030"	"2021-09-14"
"GENCC_000110-HGNC_8067-Orphanet_994-HP_0000007-GENCC_100009"	"HGNC:8067"	"NUP88"	"MONDO:0100101"	"fetal akinesia deformation sequence 1"	"Orphanet:994"	"Orphanet:994"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8067"	"NUP88"	"Orphanet:994"	"Fetal akinesia deformation sequence"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30543681[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28035"	"2021-09-14"
"GENCC_000110-HGNC_24152-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:24152"	"RSRC1"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24152"	"RSRC1"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28640246[PMID]_29522154[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28058"	"2021-09-14"
"GENCC_000110-HGNC_303-Orphanet_536532-HP_0000007-GENCC_100009"	"HGNC:303"	"AEBP1"	"MONDO:0054813"	"Ehlers-Danlos syndrome, classic-like, 2"	"Orphanet:536532"	"Orphanet:536532"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:303"	"AEBP1"	"Orphanet:536532"	"Classical-like Ehlers-Danlos syndrome type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30759870[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28059"	"2021-09-14"
"GENCC_000110-HGNC_24715-Orphanet_656-HP_0000006-GENCC_100009"	"HGNC:24715"	"TBC1D8B"	"MONDO:0019006"	"familial idiopathic steroid-resistant nephrotic syndrome"	"Orphanet:656"	"Orphanet:656"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24715"	"TBC1D8B"	"Orphanet:656"	"Genetic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30661770[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28065"	"2021-09-14"
"GENCC_000110-HGNC_19918-Orphanet_1980-HP_0000006-GENCC_100009"	"HGNC:19918"	"MYORG"	"MONDO:0008947"	"bilateral striopallidodentate calcinosis"	"Orphanet:1980"	"Orphanet:1980"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19918"	"MYORG"	"Orphanet:1980"	"Bilateral striopallidodentate calcinosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30649222[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28066"	"2021-09-14"
"GENCC_000110-HGNC_24846-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:24846"	"GAS2L2"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:24846"	"GAS2L2"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30649222[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28067"	"2021-09-14"
"GENCC_000110-HGNC_7763-Orphanet_1934-HP_0000006-GENCC_100009"	"HGNC:7763"	"NEUROD2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"Orphanet:1934"	"Orphanet:1934"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:7763"	"NEUROD2"	"Orphanet:1934"	"Early infantile epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30323019[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28125"	"2021-09-14"
"GENCC_000110-HGNC_25604-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:25604"	"TRAPPC14"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25604"	"TRAPPC14"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30715179[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28126"	"2021-09-14"
"GENCC_000110-HGNC_7801-Orphanet_93357-HP_0000007-GENCC_100009"	"HGNC:7801"	"TONSL"	"MONDO:0010068"	"spondyloepimetaphyseal dysplasia, sponastrime type"	"Orphanet:93357"	"Orphanet:93357"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7801"	"TONSL"	"Orphanet:93357"	"SPONASTRIME dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30773278[PMID]_30773277[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28127"	"2021-09-14"
"GENCC_000110-HGNC_13764-Orphanet_100031-HP_0000006-GENCC_100009"	"HGNC:13764"	"RELT"	"MONDO:0015047"	"amelogenesis imperfecta type 1"	"Orphanet:100031"	"Orphanet:100031"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13764"	"RELT"	"Orphanet:100031"	"Hypoplastic amelogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30506946[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28128"	"2021-09-14"
"GENCC_000110-HGNC_22474-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:22474"	"MED13"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:22474"	"MED13"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29740699[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28186"	"2021-09-14"
"GENCC_000110-HGNC_29190-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:29190"	"TNRC6B"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29190"	"TNRC6B"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32152250[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28188"	"2021-09-14"
"GENCC_000110-HGNC_29162-Orphanet_2754-HP_0000007-GENCC_100009"	"HGNC:29162"	"FAM149B1"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"Orphanet:2754"	"Orphanet:2754"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29162"	"FAM149B1"	"Orphanet:2754"	"Orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30905400[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28199"	"2021-09-14"
"GENCC_000110-HGNC_11405-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:11405"	"BRSK2"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11405"	"BRSK2"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30879638[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28200"	"2021-09-14"
"GENCC_000110-HGNC_4740-Orphanet_1275-HP_0000006-GENCC_100009"	"HGNC:4740"	"MACROH2A1"	"MONDO:0008520"	"brachydactyly-elbow wrist dysplasia syndrome"	"Orphanet:1275"	"Orphanet:1275"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4740"	"MACROH2A1"	"Orphanet:1275"	"Brachydactyly-elbow wrist dysplasia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30711920[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28201"	"2021-09-14"
"GENCC_000110-HGNC_19366-Orphanet_98993-HP_0000006-GENCC_100009"	"HGNC:19366"	"PANK4"	"MONDO:0020378"	"early-onset posterior polar cataract"	"Orphanet:98993"	"Orphanet:98993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19366"	"PANK4"	"Orphanet:98993"	"Early-onset posterior polar cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30585370[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28202"	"2021-09-14"
"GENCC_000110-HGNC_20039-Orphanet_154-HP_0000006-GENCC_100009"	"HGNC:20039"	"CAP2"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"Orphanet:154"	"Orphanet:154"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20039"	"CAP2"	"Orphanet:154"	"Familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30518548[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28203"	"2021-09-14"
"GENCC_000110-HGNC_9969-Orphanet_504476-HP_0000007-GENCC_100009"	"HGNC:9969"	"RFC1"	"MONDO:0044720"	"cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"	"Orphanet:504476"	"Orphanet:504476"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9969"	"RFC1"	"Orphanet:504476"	"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30926972[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28204"	"2021-09-14"
"GENCC_000110-HGNC_11737-Orphanet_399805-HP_0000006-GENCC_100009"	"HGNC:11737"	"TEX14"	"MONDO:0018393"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"Orphanet:399805"	"Orphanet:399805"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11737"	"TEX14"	"Orphanet:399805"	"Male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29790874[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28239"	"2021-09-14"
"GENCC_000110-HGNC_160-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:160"	"ACTL6B"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:160"	"ACTL6B"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31031012[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28240"	"2021-09-14"
"GENCC_000110-HGNC_160-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:160"	"ACTL6B"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:160"	"ACTL6B"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31031012[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28240"	"2021-09-14"
"GENCC_000110-HGNC_29035-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:29035"	"PPIP5K2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29035"	"PPIP5K2"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29590114[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28241"	"2021-09-14"
"GENCC_000110-HGNC_20080-Orphanet_65-HP_0000006-GENCC_100009"	"HGNC:20080"	"USP45"	"MONDO:0018998"	"Leber congenital amaurosis"	"Orphanet:65"	"Orphanet:65"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20080"	"USP45"	"Orphanet:65"	"Leber congenital amaurosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30573563[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28242"	"2021-09-14"
"GENCC_000110-HGNC_28532-Orphanet_93334-HP_0000007-GENCC_100009"	"HGNC:28532"	"KIAA0825"	"MONDO:0019673"	"postaxial polydactyly type A"	"Orphanet:93334"	"Orphanet:93334"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28532"	"KIAA0825"	"Orphanet:93334"	"Postaxial polydactyly type A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30982135[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28249"	"2021-09-14"
"GENCC_000110-HGNC_23045-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:23045"	"ARMC2"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23045"	"ARMC2"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30686508[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28250"	"2021-09-14"
"GENCC_000110-HGNC_26991-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:26991"	"TMEM132E"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26991"	"TMEM132E"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25331638[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28251"	"2021-09-14"
"GENCC_000110-HGNC_4562-Orphanet_90636-HP_0000007-GENCC_100009"	"HGNC:4562"	"GRAP"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"Orphanet:90636"	"Orphanet:90636"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4562"	"GRAP"	"Orphanet:90636"	"Autosomal recessive non-syndromic sensorineural deafness type DFNB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30610177[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28252"	"2021-09-14"
"GENCC_000110-HGNC_30761-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:30761"	"TTC21A"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30761"	"TTC21A"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30929735[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28253"	"2021-09-14"
"GENCC_000110-HGNC_16493-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:16493"	"ZMIZ1"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16493"	"ZMIZ1"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30639322[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28272"	"2021-09-14"
"GENCC_000110-HGNC_11200-Orphanet_1465-HP_0000006-GENCC_100009"	"HGNC:11200"	"SOX4"	"MONDO:0015452"	"Coffin-Siris syndrome"	"Orphanet:1465"	"Orphanet:1465"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11200"	"SOX4"	"Orphanet:1465"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30661722[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28273"	"2021-09-14"
"GENCC_000110-HGNC_26033-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:26033"	"PUS7"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26033"	"PUS7"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30778726[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28281"	"2021-09-14"
"GENCC_000110-HGNC_7582-Orphanet_544602-HP_0000007-GENCC_100009"	"HGNC:7582"	"MYL1"	"MONDO:0034109"	"congenital myopathy with reduced type 2 muscle fibers"	"Orphanet:544602"	"Orphanet:544602"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7582"	"MYL1"	"Orphanet:544602"	"Congenital myopathy with reduced type 2 muscle fibers"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30215711[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28282"	"2021-09-14"
"GENCC_000110-HGNC_30988-Orphanet_93110-HP_0000007-GENCC_100009"	"HGNC:30988"	"BNC2"	"MONDO:0019640"	"posterior urethral valve"	"Orphanet:93110"	"Orphanet:93110"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30988"	"BNC2"	"Orphanet:93110"	"Posterior urethral valve"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31051115[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28327"	"2021-09-14"
"GENCC_000110-HGNC_1371-Orphanet_542657-HP_0000007-GENCC_100009"	"HGNC:1371"	"CA12"	"MONDO:0007747"	"isolated hyperchlorhidrosis"	"Orphanet:542657"	"Orphanet:542657"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1371"	"CA12"	"Orphanet:542657"	"Isolated hyperchlorhidrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"21035102[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28418"	"2021-09-14"
"GENCC_000110-HGNC_4401-Orphanet_542306-HP_0000007-GENCC_100009"	"HGNC:4401"	"GNB5"	"MONDO:0014953"	"gnb5-related intellectual disability-cardiac arrhythmia syndrome"	"Orphanet:542306"	"Orphanet:542306"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4401"	"GNB5"	"Orphanet:542306"	"GNB5-related intellectual disability-cardiac arrhythmia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27523599[PMID]_30631341[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28419"	"2021-09-14"
"GENCC_000110-HGNC_2989-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:2989"	"DOCK3"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2989"	"DOCK3"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30976111[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28421"	"2021-09-14"
"GENCC_000110-HGNC_4076-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:4076"	"GABRA2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:4076"	"GABRA2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31032849[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28459"	"2021-09-14"
"GENCC_000110-HGNC_10911-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:10911"	"SLC12A2"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10911"	"SLC12A2"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32658972[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28475"	"2021-09-14"
"GENCC_000110-HGNC_10911-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:10911"	"SLC12A2"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10911"	"SLC12A2"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32754646[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28475"	"2021-09-14"
"GENCC_000110-HGNC_33720-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:33720"	"CFAP221"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:33720"	"CFAP221"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31636325[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28480"	"2021-09-14"
"GENCC_000110-HGNC_26293-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:26293"	"SPEF2"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26293"	"SPEF2"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31545650[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28481"	"2021-09-14"
"GENCC_000110-HGNC_26293-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:26293"	"SPEF2"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:26293"	"SPEF2"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31151990[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28481"	"2021-09-14"
"GENCC_000110-HGNC_10541-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:10541"	"SATB1"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10541"	"SATB1"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33513338[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28533"	"2021-09-14"
"GENCC_000110-HGNC_564-Orphanet_1942-HP_0000005-GENCC_100009"	"HGNC:564"	"AP2M1"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"Orphanet:1942"	"Orphanet:1942"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:564"	"AP2M1"	"Orphanet:1942"	"Myoclonic-astatic epilepsy"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31104773[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28614"	"2021-09-14"
"GENCC_000110-HGNC_18541-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:18541"	"KMT2E"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18541"	"KMT2E"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31079897[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28615"	"2021-09-14"
"GENCC_000110-HGNC_25189-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:25189"	"ALKBH8"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25189"	"ALKBH8"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31079898[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28616"	"2021-09-14"
"GENCC_000110-HGNC_29259-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:29259"	"TAOK1"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29259"	"TAOK1"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31230721[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28617"	"2021-09-14"
"GENCC_000110-HGNC_30349-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:30349"	"POLR3H"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30349"	"POLR3H"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30830215[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28619"	"2021-09-14"
"GENCC_000110-HGNC_2946-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:2946"	"DNAH17"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2946"	"DNAH17"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31178125[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28620"	"2021-09-14"
"GENCC_000110-HGNC_29204-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:29204"	"SVBP"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29204"	"SVBP"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30607023[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28621"	"2021-09-14"
"GENCC_000110-HGNC_11572-Orphanet_33364-HP_0000007-GENCC_100009"	"HGNC:11572"	"TARS1"	"MONDO:0018053"	"trichothiodystrophy"	"Orphanet:33364"	"Orphanet:33364"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11572"	"TARS1"	"Orphanet:33364"	"Trichothiodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31374204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28623"	"2021-09-14"
"GENCC_000110-HGNC_17258-Orphanet_2254-HP_0000007-GENCC_100009"	"HGNC:17258"	"AGTPBP1"	"MONDO:0016396"	"pontocerebellar hypoplasia type 1"	"Orphanet:2254"	"Orphanet:2254"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17258"	"AGTPBP1"	"Orphanet:2254"	"Pontocerebellar hypoplasia type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30976113[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28624"	"2021-09-14"
"GENCC_000110-HGNC_19988-Orphanet_221008-HP_0000007-GENCC_100009"	"HGNC:19988"	"ANAPC1"	"MONDO:0016368"	"Rothmund-Thomson syndrome type 1"	"Orphanet:221008"	"Orphanet:221008"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19988"	"ANAPC1"	"Orphanet:221008"	"Rothmund-Thomson syndrome type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31303264[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28627"	"2021-09-14"
"GENCC_000110-HGNC_17992-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:17992"	"TRPM3"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17992"	"TRPM3"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31278393[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28628"	"2021-09-14"
"GENCC_000110-HGNC_25489-Orphanet_86814-HP_0000006-GENCC_100009"	"HGNC:25489"	"YEATS2"	"MONDO:0019448"	"benign adult familial myoclonic epilepsy"	"Orphanet:86814"	"Orphanet:86814"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25489"	"YEATS2"	"Orphanet:86814"	"Benign adult familial myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31539032[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28633"	"2021-09-14"
"GENCC_000110-HGNC_25325-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:25325"	"CFAP65"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25325"	"CFAP65"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31413122[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28634"	"2021-09-14"
"GENCC_000110-HGNC_25980-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:25980"	"TRMT1"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25980"	"TRMT1"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30289604[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28657"	"2021-09-14"
"GENCC_000110-HGNC_28983-Orphanet_562569-HP_0000007-GENCC_100009"	"HGNC:28983"	"TMEM94"	"MONDO:0032672"	"intellectual developmental disorder with cardiac defects and dysmorphic facies"	"Orphanet:562569"	"Orphanet:562569"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28983"	"TMEM94"	"Orphanet:562569"	"TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30526828[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28658"	"2021-09-14"
"GENCC_000110-HGNC_10719-Orphanet_562538-HP_0000007-GENCC_100009"	"HGNC:10719"	"SELENBP1"	"MONDO:0034186"	"autosomal recessive extra-oral halitosis"	"Orphanet:562538"	"Orphanet:562538"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10719"	"SELENBP1"	"Orphanet:562538"	"Autosomal recessive extra-oral halitosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29255262[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28664"	"2021-09-14"
"GENCC_000110-HGNC_2747-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:2747"	"DDX6"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2747"	"DDX6"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31422817[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28730"	"2021-09-14"
"GENCC_000110-HGNC_30726-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:30726"	"CFAP70"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30726"	"CFAP70"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31621862[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28733"	"2021-09-14"
"GENCC_000110-HGNC_1081-Orphanet_243-HP_0000006-GENCC_100009"	"HGNC:1081"	"BNC1"	"MONDO:0009299"	"46 XX gonadal dysgenesis"	"Orphanet:243"	"Orphanet:243"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1081"	"BNC1"	"Orphanet:243"	"46,XX gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30010909[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28734"	"2021-09-14"
"GENCC_000110-HGNC_30550-Orphanet_86814-HP_0000006-GENCC_100009"	"HGNC:30550"	"MARCHF6"	"MONDO:0019448"	"benign adult familial myoclonic epilepsy"	"Orphanet:86814"	"Orphanet:86814"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30550"	"MARCHF6"	"Orphanet:86814"	"Benign adult familial myoclonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31664039[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28737"	"2021-09-14"
"GENCC_000110-HGNC_30494-Orphanet_201-HP_0000006-GENCC_100009"	"HGNC:30494"	"USF3"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30494"	"USF3"	"Orphanet:201"	"Cowden syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"28011713[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28796"	"2021-09-14"
"GENCC_000110-HGNC_554-Orphanet_171851-HP_0000007-GENCC_100009"	"HGNC:554"	"AP1B1"	"MONDO:0012251"	"MEDNIK syndrome"	"Orphanet:171851"	"Orphanet:171851"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:554"	"AP1B1"	"Orphanet:171851"	"MEDNIK syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31630791[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28822"	"2021-09-14"
"GENCC_000110-HGNC_18345-Orphanet_666-HP_0000006-GENCC_100009"	"HGNC:18345"	"TENT5A"	"MONDO:0019019"	"osteogenesis imperfecta"	"Orphanet:666"	"Orphanet:666"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18345"	"TENT5A"	"Orphanet:666"	"Osteogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29358272[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28830"	"2021-09-14"
"GENCC_000110-HGNC_13607-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:13607"	"FBXW11"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13607"	"FBXW11"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31402090[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28924"	"2021-09-14"
"GENCC_000110-HGNC_13664-Orphanet_572013-HP_0000006-GENCC_100009"	"HGNC:13664"	"MACF1"	"MONDO:0032677"	"lissencephaly 9 with complex brainstem malformation"	"Orphanet:572013"	"Orphanet:572013"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13664"	"MACF1"	"Orphanet:572013"	"Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30471716[PMID]_24507697[PMID]_24932993[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28927"	"2021-09-14"
"GENCC_000110-HGNC_23700-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:23700"	"TTC12"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:23700"	"TTC12"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31820119[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28929"	"2021-09-14"
"GENCC_000110-HGNC_9090-Orphanet_90635-HP_0000006-GENCC_100009"	"HGNC:9090"	"PLS1"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"Orphanet:90635"	"Orphanet:90635"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9090"	"PLS1"	"Orphanet:90635"	"Autosomal dominant non-syndromic sensorineural deafness type DFNA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31397523[PMID]_30872814[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28930"	"2021-09-14"
"GENCC_000110-HGNC_29936-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:29936"	"TTC29"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29936"	"TTC29"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31735292[PMID]_31735294[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28933"	"2021-09-14"
"GENCC_000110-HGNC_18592-Orphanet_244-HP_0000006-GENCC_100009"	"HGNC:18592"	"NEK10"	"MONDO:0016575"	"primary ciliary dyskinesia"	"Orphanet:244"	"Orphanet:244"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18592"	"NEK10"	"Orphanet:244"	"Primary ciliary dyskinesia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31959991[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"28937"	"2021-09-14"
"GENCC_000110-HGNC_30212-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:30212"	"TANC2"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:30212"	"TANC2"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31616000[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29147"	"2021-09-14"
"GENCC_000110-HGNC_16050-Orphanet_178469-HP_0000006-GENCC_100009"	"HGNC:16050"	"MED12L"	"MONDO:0015802"	"autosomal dominant non-syndromic intellectual disability"	"Orphanet:178469"	"Orphanet:178469"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:16050"	"MED12L"	"Orphanet:178469"	"Autosomal dominant non-syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31155615[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29242"	"2021-09-14"
"GENCC_000110-HGNC_29437-Orphanet_2116-HP_0000007-GENCC_100009"	"HGNC:29437"	"CLTRN"	"MONDO:0009324"	"Hartnup disease"	"Orphanet:2116"	"Orphanet:2116"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29437"	"CLTRN"	"Orphanet:2116"	"Hartnup disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31520464[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29243"	"2021-09-14"
"GENCC_000110-HGNC_19943-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:19943"	"TRAPPC4"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19943"	"TRAPPC4"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30690204[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29244"	"2021-09-14"
"GENCC_000110-HGNC_17210-Orphanet_242-HP_0000006-GENCC_100009"	"HGNC:17210"	"DHX37"	"MONDO:0010765"	"46,XY complete gonadal dysgenesis"	"Orphanet:242"	"Orphanet:242"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17210"	"DHX37"	"Orphanet:242"	"46,XY complete gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31337883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29246"	"2021-09-14"
"GENCC_000110-HGNC_17210-Orphanet_983-HP_0000007-GENCC_100009"	"HGNC:17210"	"DHX37"	"MONDO:0010107"	"testicular regression syndrome"	"Orphanet:983"	"Orphanet:983"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17210"	"DHX37"	"Orphanet:983"	"Testicular regression syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31287541[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29246"	"2021-09-14"
"GENCC_000110-HGNC_17210-Orphanet_251510-HP_0000006-GENCC_100009"	"HGNC:17210"	"DHX37"	"MONDO:0016674"	"46,XY partial gonadal dysgenesis"	"Orphanet:251510"	"Orphanet:251510"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:17210"	"DHX37"	"Orphanet:251510"	"46,XY partial gonadal dysgenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31337883[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29246"	"2021-09-14"
"GENCC_000110-HGNC_14283-Orphanet_168629-HP_0000006-GENCC_100009"	"HGNC:14283"	"IKZF5"	"MONDO:0015679"	"autosomal thrombocytopenia with normal platelets"	"Orphanet:168629"	"Orphanet:168629"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14283"	"IKZF5"	"Orphanet:168629"	"Autosomal thrombocytopenia with normal platelets"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31217188[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29247"	"2021-09-14"
"GENCC_000110-HGNC_14686-Orphanet_1980-HP_0000006-GENCC_100009"	"HGNC:14686"	"JAM2"	"MONDO:0008947"	"bilateral striopallidodentate calcinosis"	"Orphanet:1980"	"Orphanet:1980"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14686"	"JAM2"	"Orphanet:1980"	"Bilateral striopallidodentate calcinosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31851307[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29248"	"2021-09-14"
"GENCC_000110-HGNC_24552-Orphanet_1369-HP_0000007-GENCC_100009"	"HGNC:24552"	"TKFC"	"MONDO:0008922"	"Sengers syndrome"	"Orphanet:1369"	"Orphanet:1369"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24552"	"TKFC"	"Orphanet:1369"	"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32004446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29249"	"2021-09-14"
"GENCC_000110-HGNC_29622-Orphanet_98676-HP_0000007-GENCC_100009"	"HGNC:29622"	"MCAT"	"MONDO:0014753"	"autosomal recessive optic atrophy"	"Orphanet:98676"	"Orphanet:98676"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29622"	"MCAT"	"Orphanet:98676"	"Autosomal recessive isolated optic atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31915829[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29250"	"2021-09-14"
"GENCC_000110-HGNC_25006-Orphanet_2512-HP_0000007-GENCC_100009"	"HGNC:25006"	"METTL5"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"Orphanet:2512"	"Orphanet:2512"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:25006"	"METTL5"	"Orphanet:2512"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31564433[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29254"	"2021-09-14"
"GENCC_000110-HGNC_24496-Orphanet_93347-HP_0000007-GENCC_100009"	"HGNC:24496"	"NEPRO"	"MONDO:0011773"	"anauxetic dysplasia"	"Orphanet:93347"	"Orphanet:93347"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24496"	"NEPRO"	"Orphanet:93347"	"Anauxetic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31250547[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29283"	"2021-09-14"
"GENCC_000110-HGNC_29832-Orphanet_521438-HP_0000007-GENCC_100009"	"HGNC:29832"	"NADSYN1"	"MONDO:0020831"	"congenital vertebral-cardiac-renal anomalies syndrome"	"Orphanet:521438"	"Orphanet:521438"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29832"	"NADSYN1"	"Orphanet:521438"	"Congenital vertebral-cardiac-renal anomalies syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31883644[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29284"	"2021-09-14"
"GENCC_000110-HGNC_26256-Orphanet_478-HP_0000006-GENCC_100009"	"HGNC:26256"	"NDNF"	"MONDO:0018800"	"Kallmann syndrome"	"Orphanet:478"	"Orphanet:478"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:26256"	"NDNF"	"Orphanet:478"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31883645[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29285"	"2021-09-14"
"GENCC_000110-HGNC_25536-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:25536"	"DALRD3"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25536"	"DALRD3"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32427860[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29286"	"2021-09-14"
"GENCC_000110-HGNC_3596-Orphanet_589527-HP_0000006-GENCC_100009"	"HGNC:3596"	"FAT2"	"MONDO:0033480"	"spinocerebellar ataxia 45"	"Orphanet:589527"	"Orphanet:589527"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3596"	"FAT2"	"Orphanet:589527"	"Spinocerebellar ataxia type 45"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29053796[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29289"	"2021-09-14"
"GENCC_000110-HGNC_20454-Orphanet_861-HP_0000006-GENCC_100009"	"HGNC:20454"	"POLR1B"	"MONDO:0002457"	"Treacher-Collins syndrome"	"Orphanet:861"	"Orphanet:861"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20454"	"POLR1B"	"Orphanet:861"	"Treacher-Collins syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"25790162[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29805"	"2021-09-14"
"GENCC_000110-HGNC_18072-Orphanet_1333-HP_0000006-GENCC_100009"	"HGNC:18072"	"RABL3"	"MONDO:0015278"	"familial pancreatic carcinoma"	"Orphanet:1333"	"Orphanet:1333"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:18072"	"RABL3"	"Orphanet:1333"	"Familial pancreatic carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31406347[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29898"	"2021-09-14"
"GENCC_000110-HGNC_20652-Orphanet_564-HP_0000007-GENCC_100009"	"HGNC:20652"	"TXNDC15"	"MONDO:0018921"	"Meckel syndrome"	"Orphanet:564"	"Orphanet:564"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:20652"	"TXNDC15"	"Orphanet:564"	"Meckel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"27894351[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29904"	"2021-09-14"
"GENCC_000110-HGNC_6305-Orphanet_666-HP_0000006-GENCC_100009"	"HGNC:6305"	"KDELR2"	"MONDO:0019019"	"osteogenesis imperfecta"	"Orphanet:666"	"Orphanet:666"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6305"	"KDELR2"	"Orphanet:666"	"Osteogenesis imperfecta"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33053334[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29905"	"2021-09-14"
"GENCC_000110-HGNC_13520-Orphanet_216804-HP_0000006-GENCC_100009"	"HGNC:13520"	"MESD"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"Orphanet:216804"	"Orphanet:216804"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:13520"	"MESD"	"Orphanet:216804"	"Osteogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33596325[PMID]_31564437[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29906"	"2021-09-14"
"GENCC_000110-HGNC_16410-Orphanet_104-HP_0001427-GENCC_100009"	"HGNC:16410"	"DNAJC30"	"MONDO:0010788"	"Leber hereditary optic neuropathy"	"Orphanet:104"	"Orphanet:104"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:16410"	"DNAJC30"	"Orphanet:104"	"Leber hereditary optic neuropathy"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33465056[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29910"	"2021-09-14"
"GENCC_000110-HGNC_23595-Orphanet_95434-HP_0000007-GENCC_100009"	"HGNC:23595"	"VPS13D"	"MONDO:0011811"	"autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"	"Orphanet:95434"	"Orphanet:95434"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:23595"	"VPS13D"	"Orphanet:95434"	"Autosomal recessive cerebellar ataxia-movement disorder syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"29604224[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"29938"	"2021-09-14"
"GENCC_000110-HGNC_16831-Orphanet_101150-HP_0000007-GENCC_100009"	"HGNC:16831"	"TSPOAP1"	"MONDO:0011551"	"TH-deficient dopa-responsive dystonia"	"Orphanet:101150"	"Orphanet:101150"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:16831"	"TSPOAP1"	"Orphanet:101150"	"Autosomal recessive dopa-responsive dystonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33539324[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30110"	"2021-09-14"
"GENCC_000110-HGNC_12461-Orphanet_100993-HP_0000006-GENCC_100009"	"HGNC:12461"	"UBAP1"	"MONDO:0011489"	"hereditary spastic paraplegia 12"	"Orphanet:100993"	"Orphanet:100993"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12461"	"UBAP1"	"Orphanet:100993"	"Autosomal dominant spastic paraplegia type 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32934340[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30152"	"2021-09-14"
"GENCC_000110-HGNC_28295-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:28295"	"CCDC32"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:28295"	"CCDC32"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32307552[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30227"	"2021-09-14"
"GENCC_000110-HGNC_14288-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:14288"	"NTNG2"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:14288"	"NTNG2"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"31668703[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30340"	"2021-09-14"
"GENCC_000110-HGNC_19274-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:19274"	"TTC5"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:19274"	"TTC5"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32439809[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30407"	"2021-09-14"
"GENCC_000110-HGNC_3670-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:3670"	"FGF13"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:3670"	"FGF13"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33245860[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30539"	"2021-09-14"
"GENCC_000110-HGNC_8777-Orphanet_31709-HP_0000006-GENCC_100009"	"HGNC:8777"	"PDE2A"	"MONDO:0011178"	"infantile convulsions and choreoathetosis"	"Orphanet:31709"	"Orphanet:31709"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:8777"	"PDE2A"	"Orphanet:31709"	"Infantile convulsions and choreoathetosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32467598[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30559"	"2021-09-14"
"GENCC_000110-HGNC_6766-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:6766"	"MADD"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6766"	"MADD"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32761064[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30560"	"2021-09-14"
"GENCC_000110-HGNC_2550-Orphanet_442835-HP_0000006-GENCC_100009"	"HGNC:2550"	"CELF2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"Orphanet:442835"	"Orphanet:442835"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2550"	"CELF2"	"Orphanet:442835"	"Non-specific early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33131106[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30563"	"2021-09-14"
"GENCC_000110-HGNC_30910-Orphanet_314485-HP_0000007-GENCC_100009"	"HGNC:30910"	"VWA1"	"MONDO:0013947"	"neuronopathy, distal hereditary motor, autosomal recessive 5"	"Orphanet:314485"	"Orphanet:314485"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:30910"	"VWA1"	"Orphanet:314485"	"Young adult-onset distal hereditary motor neuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33559681[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30564"	"2021-09-14"
"GENCC_000110-HGNC_1226-Orphanet_98897-HP_0000006-GENCC_100009"	"HGNC:1226"	"GIPC1"	"MONDO:0025193"	"oculopharyngodistal myopathy"	"Orphanet:98897"	"Orphanet:98897"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1226"	"GIPC1"	"Orphanet:98897"	"Oculopharyngodistal myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33374016[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30565"	"2021-09-14"
"GENCC_000110-HGNC_18359-Orphanet_86923-HP_0000007-GENCC_100009"	"HGNC:18359"	"SERPINA12"	"MONDO:0009489"	"hereditary palmoplantar keratoderma, Gamborg-Nielsen type"	"Orphanet:86923"	"Orphanet:86923"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:18359"	"SERPINA12"	"Orphanet:86923"	"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32247861[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30566"	"2021-09-14"
"GENCC_000110-HGNC_1307-Orphanet_475-HP_0000007-GENCC_100009"	"HGNC:1307"	"CBY1"	"MONDO:0018772"	"Joubert syndrome"	"Orphanet:475"	"Orphanet:475"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1307"	"CBY1"	"Orphanet:475"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33131181[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30567"	"2021-09-14"
"GENCC_000110-HGNC_7506-Orphanet_2457-HP_0000007-GENCC_100009"	"HGNC:7506"	"MTX2"	"MONDO:0016584"	"mandibuloacral dysplasia"	"Orphanet:2457"	"Orphanet:2457"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7506"	"MTX2"	"Orphanet:2457"	"Mandibuloacral dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"32917887[PMLID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30568"	"2021-09-14"
"GENCC_000110-HGNC_24877-Orphanet_306558-HP_0000007-GENCC_100009"	"HGNC:24877"	"YIPF5"	"MONDO:0013647"	"primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"	"Orphanet:306558"	"Orphanet:306558"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:24877"	"YIPF5"	"Orphanet:306558"	"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33164987[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30569"	"2021-09-14"
"GENCC_000110-HGNC_29136-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:29136"	"KDM4B"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:29136"	"KDM4B"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33232677[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30571"	"2021-09-14"
"GENCC_000110-HGNC_11289-Orphanet_388-HP_0000006-GENCC_100009"	"HGNC:11289"	"SREBF1"	"MONDO:0018309"	"Hirschsprung disease"	"Orphanet:388"	"Orphanet:388"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11289"	"SREBF1"	"Orphanet:388"	"Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33151932[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30664"	"2021-09-14"
"GENCC_000110-HGNC_20917-Orphanet_313800-HP_0000006-GENCC_100009"	"HGNC:20917"	"ALPK1"	"MONDO:0013999"	"retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome"	"Orphanet:313800"	"Orphanet:313800"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20917"	"ALPK1"	"Orphanet:313800"	"Optic nerve edema-splenomegaly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"30967659[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30667"	"2021-09-14"
"GENCC_000110-HGNC_25295-Orphanet_1872-HP_0000006-GENCC_100009"	"HGNC:25295"	"TLCD3B"	"MONDO:0015993"	"cone-rod dystrophy"	"Orphanet:1872"	"Orphanet:1872"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:25295"	"TLCD3B"	"Orphanet:1872"	"Cone rod dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33077892[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30669"	"2021-09-14"
"GENCC_000110-HGNC_20637-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:20637"	"DPYSL5"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:20637"	"DPYSL5"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33894126[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30670"	"2021-09-14"
"GENCC_000110-HGNC_17597-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:17597"	"NCDN"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:17597"	"NCDN"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33711248[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30671"	"2021-09-14"
"GENCC_000110-HGNC_12499-Orphanet_88616-HP_0000007-GENCC_100009"	"HGNC:12499"	"UBE4A"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"Orphanet:88616"	"Orphanet:88616"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12499"	"UBE4A"	"Orphanet:88616"	"Autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33420346[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30672"	"2021-09-14"
"GENCC_000110-HGNC_19354-Orphanet_500166-HP_0000006-GENCC_100009"	"HGNC:19354"	"SIN3B"	"MONDO:0044700"	"SIN3A-related intellectual disability syndrome due to a point mutation"	"Orphanet:500166"	"Orphanet:500166"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:19354"	"SIN3B"	"Orphanet:500166"	"SIN3A-related intellectual disability syndrome due to a point mutation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33811806[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30673"	"2021-09-14"
"GENCC_000110-HGNC_28494-Orphanet_276234-HP_0000007-GENCC_100009"	"HGNC:28494"	"ACTL9"	"MONDO:0017173"	"non-syndromic male infertility due to sperm motility disorder"	"Orphanet:276234"	"Orphanet:276234"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:28494"	"ACTL9"	"Orphanet:276234"	"Non-syndromic male infertility due to sperm motility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33626338[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30674"	"2021-09-14"
"GENCC_000110-HGNC_2377-Orphanet_528084-HP_0000006-GENCC_100009"	"HGNC:2377"	"MED27"	"MONDO:0000508"	"syndromic intellectual disability"	"Orphanet:528084"	"Orphanet:528084"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2377"	"MED27"	"Orphanet:528084"	"Non-specific syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33443317[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30675"	"2021-09-14"
"GENCC_000110-HGNC_12713-Orphanet_95434-HP_0000007-GENCC_100009"	"HGNC:12713"	"VPS41"	"MONDO:0011811"	"autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"	"Orphanet:95434"	"Orphanet:95434"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:12713"	"VPS41"	"Orphanet:95434"	"Autosomal recessive cerebellar ataxia-movement disorder syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33764426[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30676"	"2021-09-14"
"GENCC_000110-HGNC_9437-Orphanet_256-HP_0000006-GENCC_100009"	"HGNC:9437"	"EIF2AK2"	"MONDO:0007492"	"early-onset generalized limb-onset dystonia"	"Orphanet:256"	"Orphanet:256"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:9437"	"EIF2AK2"	"Orphanet:256"	"Early-onset generalized limb-onset dystonia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2021-09-14 00:00:00"	""	""	"33236446[PMID]"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"30678"	"2021-09-14"
"GENCC_000101-HGNC_9761-OMIM_617807-HP_0000006-GENCC_100003"	"HGNC:9761"	"RAB11B"	"MONDO:0060624"	"neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"OMIM:617807"	"Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9761"	"RAB11B"	"OMIM:617807"	"Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-24 19:01:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3692"	"2021-09-28"
"GENCC_000101-HGNC_16499-OMIM_300271-HP_0001417-GENCC_100003"	"HGNC:16499"	"RAB39B"	"MONDO:0010289"	"intellectual disability, X-linked 72"	"OMIM:300271"	"Intellectual developmental disorder, X-linked 72"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16499"	"RAB39B"	"OMIM:300271"	"Mental retardation, X-linked 72"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:01:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"881006"	"2021-09-28"
"GENCC_000101-HGNC_16499-OMIM_311510-HP_0001417-GENCC_100003"	"HGNC:16499"	"RAB39B"	"MONDO:0010709"	"early-onset parkinsonism-intellectual disability syndrome"	"OMIM:311510"	"Waisman syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16499"	"RAB39B"	"OMIM:311510"	"Waisman syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:01:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8810061"	"2021-09-28"
"GENCC_000101-HGNC_9803-OMIM_618577-HP_0000006-GENCC_100004"	"HGNC:9803"	"RAC3"	"MONDO:0032820"	"neurodevelopmental disorder with structural brain anomalies and dysmorphic facies"	"OMIM:618577"	"Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9803"	"RAC3"	"OMIM:618577"	"Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-04-26 19:01:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7558"	"2021-09-28"
"GENCC_000101-HGNC_9811-OMIM_614701-HP_0000006-GENCC_100003"	"HGNC:9811"	"RAD21"	"MONDO:0013864"	"Cornelia de Lange syndrome 4"	"OMIM:614701"	"Cornelia de Lange syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9811"	"RAD21"	"OMIM:614701"	"Cornelia de Lange syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-08-05 19:01:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7557"	"2021-09-28"
"GENCC_000101-HGNC_9817-OMIM_614508-HP_0000006-GENCC_100003"	"HGNC:9817"	"RAD51"	"MONDO:0013790"	"mirror movements 2"	"OMIM:614508"	"Mirror movements 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9817"	"RAD51"	"OMIM:614508"	"Mirror movements 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-24 19:01:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7555"	"2021-09-28"
"GENCC_000101-HGNC_9817-OMIM_617244-HP_0000006-GENCC_100003"	"HGNC:9817"	"RAD51"	"MONDO:0014986"	"Fanconi anemia complementation group R"	"OMIM:617244"	"Fanconi anemia, complementation group R"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9817"	"RAD51"	"OMIM:617244"	"Fanconi anemia, complementation group R"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-24 19:01:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"75551"	"2021-09-28"
"GENCC_000101-HGNC_9820-OMIM_613390-HP_0000007-GENCC_100003"	"HGNC:9820"	"RAD51C"	"MONDO:0013248"	"Fanconi anemia complementation group O"	"OMIM:613390"	"Fanconi anemia, complementation group O"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9820"	"RAD51C"	"OMIM:613390"	"Fanconi anemia, complementation group O"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-06 19:01:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7553"	"2021-09-28"
"GENCC_000101-HGNC_9823-OMIM_614291-HP_0000006-GENCC_100004"	"HGNC:9823"	"RAD51D"	"MONDO:0013669"	"breast-ovarian cancer, familial, susceptibility to, 4"	"OMIM:614291"	"{Breast-ovarian cancer, familial, susceptibility to, 4}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9823"	"RAD51D"	"OMIM:614291"	"Breast-ovarian cancer, familial, susceptibility to, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"68658"	"2023-08-19"
"GENCC_000101-HGNC_9831-OMIM_601457-HP_0000007-GENCC_100002"	"HGNC:9831"	"RAG1"	"MONDO:0011086"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"	"OMIM:601457"	"Severe combined immunodeficiency, B cell-negative"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9831"	"RAG1"	"OMIM:601457"	"Severe combined immunodeficiency, B cell-negative"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:01:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7531"	"2021-09-28"
"GENCC_000101-HGNC_9831-OMIM_603554-HP_0000007-GENCC_100001"	"HGNC:9831"	"RAG1"	"MONDO:0011338"	"Omenn syndrome"	"OMIM:603554"	"Omenn syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9831"	"RAG1"	"OMIM:603554"	"Omenn syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:01:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"75311"	"2021-09-28"
"GENCC_000101-HGNC_9834-MONDO_0012574-HP_0000006-GENCC_100003"	"HGNC:9834"	"RAI1"	"MONDO:0012574"	"Potocki-Lupski syndrome"	"MONDO:0012574"	"Potocki-Lupski syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9834"	"RAI1"	"MONDO:0012574"	"Potocki-Lupski syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-30 19:01:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82409"	"2021-09-28"
"GENCC_000101-HGNC_9834-OMIM_182290-HP_0000006-GENCC_100001"	"HGNC:9834"	"RAI1"	"MONDO:0008434"	"Smith-Magenis syndrome"	"OMIM:182290"	"Smith-Magenis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9834"	"RAI1"	"OMIM:182290"	"Smith-Magenis syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-05 19:01:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"824091"	"2021-09-28"
"GENCC_000101-HGNC_9839-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:9839"	"RALA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9839"	"RALA"	"MONDO:0100038"	"NEURODEVELOPMENTAL DISORDER"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-01-10 19:01:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7535"	"2021-09-28"
"GENCC_000101-HGNC_17770-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:17770"	"RALGAPA1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17770"	"RALGAPA1"	"MONDO:0100038"	"Brain developmental delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:01:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6793731"	"2021-09-28"
"GENCC_000101-HGNC_17770-OMIM_618797-HP_0000007-GENCC_100003"	"HGNC:17770"	"RALGAPA1"	"MONDO:0032921"	"neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation"	"OMIM:618797"	"Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17770"	"RALGAPA1"	"OMIM:618797"	"Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-06 19:01:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"679373"	"2021-09-28"
"GENCC_000101-HGNC_29221-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:29221"	"RALGAPB"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29221"	"RALGAPB"	"MONDO:0100038"	"Autism/ Epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:01:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74805"	"2021-09-28"
"GENCC_000101-HGNC_9842-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:9842"	"RALGDS"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9842"	"RALGDS"	"MONDO:0100038"	"Intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-24 19:01:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7322"	"2021-09-28"
"GENCC_000101-HGNC_9844-MONDO_0005338-HP_0000006-GENCC_100004"	"HGNC:9844"	"RAMP2"	"MONDO:0005338"	"open-angle glaucoma"	"MONDO:0005338"	"open-angle glaucoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9844"	"RAMP2"	"MONDO:0005338"	"PRIMARY OPEN ANGLE GLAUCOMA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-07-31 19:01:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82611"	"2021-09-28"
"GENCC_000101-HGNC_17679-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:17679"	"RANGRF"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17679"	"RANGRF"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-15 19:01:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"63235"	"2021-09-28"
"GENCC_000101-HGNC_16854-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:16854"	"RAPGEF2"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16854"	"RAPGEF2"	"MONDO:0004976"	"AD Amyotrophic Lateral Sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-21 19:01:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3139"	"2021-09-28"
"GENCC_000101-HGNC_16626-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:16626"	"RAPGEF4"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16626"	"RAPGEF4"	"MONDO:0008315"	"PROSTATE CANCER"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-21 19:01:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88213"	"2021-09-28"
"GENCC_000101-HGNC_9864-OMIM_612376-HP_0000006-GENCC_100008"	"HGNC:9864"	"RARA"	"MONDO:0012883"	"acute promyelocytic leukemia"	"OMIM:612376"	"Leukemia, acute promyelocytic"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9864"	"RARA"	"OMIM:612376"	"Leukemia, acute promyelocytic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-08-31 19:01:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7380"	"2021-09-28"
"GENCC_000101-HGNC_9864-MONDO_0019042-HP_0000006-GENCC_100004"	"HGNC:9864"	"RARA"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9864"	"RARA"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-08-02 19:01:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"73801"	"2021-09-28"
"GENCC_000101-HGNC_21406-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:21406"	"RARS2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21406"	"RARS2"	"MONDO:0100038"	"Psychomotor retardation, autism and ataxia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-02 19:01:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74295"	"2021-09-28"
"GENCC_000101-HGNC_21406-OMIM_611523-HP_0000007-GENCC_100002"	"HGNC:21406"	"RARS2"	"MONDO:0012683"	"pontocerebellar hypoplasia type 6"	"OMIM:611523"	"Pontocerebellar hypoplasia, type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21406"	"RARS2"	"OMIM:611523"	"Pontocerebellar hypoplasia, type 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-02 19:01:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"742951"	"2021-09-28"
"GENCC_000101-HGNC_9873-MONDO_0007254-HP_0000006-GENCC_100004"	"HGNC:9873"	"RASAL1"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9873"	"RASAL1"	"MONDO:0007254"	"RASAL1-related breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-02 19:01:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5094"	"2021-09-28"
"GENCC_000101-HGNC_9884-OMIM_180200-HP_0000006-GENCC_100001"	"HGNC:9884"	"RB1"	"MONDO:0018160"	"hereditary retinoblastoma"	"OMIM:180200"	"Retinoblastoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9884"	"RB1"	"OMIM:180200"	"Retinoblastoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:01:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7367"	"2021-09-28"
"GENCC_000101-HGNC_18222-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:18222"	"RBFOX1"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18222"	"RBFOX1"	"MONDO:0005027"	"Epilepsy, rolandic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70487"	"2021-09-28"
"GENCC_000101-HGNC_27097-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:27097"	"RBFOX3"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27097"	"RBFOX3"	"MONDO:0005027"	"Epilepsy, rolandic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"801489"	"2021-09-28"
"GENCC_000101-HGNC_9894-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:9894"	"RBL2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9894"	"RBL2"	"MONDO:0100038"	"RBL2-related neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-14 19:01:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7390"	"2021-09-28"
"GENCC_000101-HGNC_27424-OMIM_613172-HP_0000006-GENCC_100002"	"HGNC:27424"	"RBM20"	"MONDO:0013168"	"dilated cardiomyopathy 1DD"	"OMIM:613172"	"Cardiomyopathy, dilated, 1DD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27424"	"RBM20"	"OMIM:613172"	"Cardiomyopathy, dilated, 1DD"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-26 19:01:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"656331"	"2021-09-28"
"GENCC_000101-HGNC_9910-OMIM_300238-HP_0001417-GENCC_100003"	"HGNC:9910"	"RBMX"	"MONDO:0010277"	"syndromic X-linked intellectual disability Shashi type"	"OMIM:300238"	"?Intellectual developmental disorder, X-linked syndromic, Shashi type"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9910"	"RBMX"	"OMIM:300238"	"Intellectual developmental disorder, X-linked syndromic 11, Shashi type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-24 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73795"	"2024-01-02"
"GENCC_000101-HGNC_9922-OMIM_616428-HP_0000007-GENCC_100003"	"HGNC:9922"	"RBP4"	"MONDO:0014635"	"microphthalmia, isolated, with coloboma 10"	"OMIM:616428"	"Microphthalmia/coloboma 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9922"	"RBP4"	"OMIM:616428"	"Microphthalmia, isolated, with coloboma 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-04 19:01:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7372"	"2021-09-28"
"GENCC_000101-HGNC_18243-MONDO_0019516-HP_0000006-GENCC_100004"	"HGNC:18243"	"RCBTB1"	"MONDO:0019516"	"exudative vitreoretinopathy"	"MONDO:0019516"	"exudative vitreoretinopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18243"	"RCBTB1"	"MONDO:0019516"	"FAMILIAL EXUDATIVE VITREORETINOPATHY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"776891"	"2021-09-28"
"GENCC_000101-HGNC_18243-OMIM_617175-HP_0000007-GENCC_100004"	"HGNC:18243"	"RCBTB1"	"MONDO:0014955"	"RCBTB1-related retinopathy"	"OMIM:617175"	"Retinal dystrophy with or without extraocular anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18243"	"RCBTB1"	"OMIM:617175"	"Retinal dystrophy with or without extraocular anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77689"	"2021-09-28"
"GENCC_000101-HGNC_17964-OMIM_616108-HP_0000007-GENCC_100004"	"HGNC:17964"	"RDH11"	"MONDO:0014495"	"retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"	"OMIM:616108"	"?Retinal dystrophy, juvenile cataracts, and short stature syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17964"	"RDH11"	"OMIM:616108"	"Retinal dystrophy, juvenile cataracts, and short stature syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78367"	"2023-08-19"
"GENCC_000101-HGNC_9940-OMIM_136880-HP_0032113-GENCC_100001"	"HGNC:9940"	"RDH5"	"MONDO:0007639"	"fundus albipunctatus"	"OMIM:136880"	"Fundus albipunctatus"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9940"	"RDH5"	"OMIM:136880"	"Fundus albipunctatus"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-18 19:01:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7373"	"2021-09-28"
"GENCC_000101-HGNC_9944-OMIM_611022-HP_0000007-GENCC_100002"	"HGNC:9944"	"RDX"	"MONDO:0012602"	"autosomal recessive nonsyndromic hearing loss 24"	"OMIM:611022"	"Deafness, autosomal recessive 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9944"	"RDX"	"OMIM:611022"	"Deafness, autosomal recessive 24"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-10-09 19:01:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7316"	"2021-09-28"
"GENCC_000101-HGNC_9950-MONDO_0005010-HP_0000007-GENCC_100004"	"HGNC:9950"	"RECQL5"	"MONDO:0005010"	"coronary artery disorder"	"MONDO:0005010"	"coronary artery disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9950"	"RECQL5"	"MONDO:0005010"	"Coronary artery disease (CAD) including myocardial infarction (MI)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3022"	"2021-09-28"
"GENCC_000101-HGNC_9950-MONDO_0007254-HP_0000006-GENCC_100004"	"HGNC:9950"	"RECQL5"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9950"	"RECQL5"	"MONDO:0007254"	"Hereditary Breast Cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-07 19:01:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"30221"	"2021-09-28"
"GENCC_000101-HGNC_9955-OMIM_618287-HP_0000006-GENCC_100004"	"HGNC:9955"	"RELA"	"MONDO:0032659"	"mucocutaneous ulceration, chronic"	"OMIM:618287"	"Autoinflammatory disease, familial, Behcet-like-3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9955"	"RELA"	"OMIM:618287"	"Mucocutaneous ulceration, chronic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-01 19:01:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7342"	"2021-09-28"
"GENCC_000101-HGNC_9957-OMIM_616436-HP_0000006-GENCC_100003"	"HGNC:9957"	"RELN"	"MONDO:0014639"	"familial temporal lobe epilepsy 7"	"OMIM:616436"	"{Epilepsy, familial temporal lobe, 7}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9957"	"RELN"	"OMIM:616436"	"{Epilepsy, familial temporal lobe, 7}"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-07-20 19:01:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7103"	"2021-09-28"
"GENCC_000101-HGNC_9957-OMIM_257320-HP_0000007-GENCC_100003"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Norman-Roberts syndrome"	"OMIM:257320"	"Lissencephaly 2 (Norman-Roberts type)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9957"	"RELN"	"OMIM:257320"	"Lissencephaly 2 (Norman-Roberts type)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-08-03 19:01:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"71031"	"2021-09-28"
"GENCC_000101-HGNC_9957-MONDO_0005306-HP_0000006-GENCC_100004"	"HGNC:9957"	"RELN"	"MONDO:0005306"	"ankylosing spondylitis"	"MONDO:0005306"	"ankylosing spondylitis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9957"	"RELN"	"MONDO:0005306"	"ANKYLOSING SPONDYLITIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-02-14 19:01:46"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"71032"	"2021-09-28"
"GENCC_000101-HGNC_13764-OMIM_618386-HP_0000007-GENCC_100003"	"HGNC:13764"	"RELT"	"MONDO:0032717"	"amelogenesis imperfecta, type 3C"	"OMIM:618386"	"Amelogenesis imperfecta, type IIIC"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13764"	"RELT"	"OMIM:618386"	"Amelogenesis imperfecta, type IIIC"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-23 19:01:46"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50374"	"2021-09-28"
"GENCC_000101-HGNC_20389-OMIM_125853-HP_0000006-GENCC_100004"	"HGNC:20389"	"RETN"	"MONDO:0007455"	"diabetes mellitus, noninsulin-dependent"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20389"	"RETN"	"OMIM:125853"	"Hypertension, insulin resistance-related, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"71463"	"2021-09-28"
"GENCC_000101-HGNC_17851-MONDO_0017191-HP_0000006-GENCC_100004"	"HGNC:17851"	"REXO2"	"MONDO:0017191"	"sporadic pheochromocytoma"	"MONDO:0017191"	"sporadic pheochromocytoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17851"	"REXO2"	"MONDO:0017191"	"PHEOCHROMOCYTOMA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-28 19:01:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"67331"	"2021-09-28"
"GENCC_000101-HGNC_9983-MONDO_0006497-HP_0000006-GENCC_100004"	"HGNC:9983"	"RFX2"	"MONDO:0006497"	"cerebral palsy"	"MONDO:0006497"	"cerebral palsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9983"	"RFX2"	"MONDO:0006497"	"Cerebral palsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:01:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7332"	"2021-09-28"
"GENCC_000101-HGNC_9984-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:9984"	"RFX3"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9984"	"RFX3"	"MONDO:0005258"	"Autism spectrum disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-04 19:01:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7338"	"2021-09-28"
"GENCC_000101-HGNC_9984-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:9984"	"RFX3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9984"	"RFX3"	"MONDO:0100038"	"AD autism, mild intellectual disability and behavioral concerns"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-04 19:01:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"73382"	"2021-09-28"
"GENCC_000101-HGNC_9990-OMIM_613769-HP_0032113-GENCC_100004"	"HGNC:9990"	"RGR"	"MONDO:0013414"	"retinitis pigmentosa 44"	"OMIM:613769"	"Retinitis pigmentosa 44"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9990"	"RGR"	"OMIM:613769"	"Retinitis pigmentosa 44"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7337"	"2021-09-28"
"GENCC_000101-HGNC_10004-OMIM_608415-HP_0000007-GENCC_100003"	"HGNC:10004"	"RGS9"	"MONDO:0012033"	"bradyopsia"	"OMIM:608415"	"Prolonged electroretinal response suppression 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10004"	"RGS9"	"OMIM:608415"	"Bradyopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-21 19:01:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5454"	"2021-09-28"
"GENCC_000101-HGNC_20788-OMIM_148500-HP_0000006-GENCC_100003"	"HGNC:20788"	"RHBDF2"	"MONDO:0007856"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"OMIM:148500"	"Tylosis with esophageal cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20788"	"RHBDF2"	"OMIM:148500"	"Tylosis with esophageal cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-31 19:01:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43178"	"2021-09-28"
"GENCC_000101-HGNC_10011-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:10011"	"RHEB"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10011"	"RHEB"	"MONDO:0100038"	"RHEB-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-25 19:01:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1223"	"2021-09-28"
"GENCC_000101-HGNC_18756-OMIM_618004-HP_0000006-GENCC_100003"	"HGNC:18756"	"RHOBTB2"	"MONDO:0033373"	"developmental and epileptic encephalopathy, 64"	"OMIM:618004"	"Developmental and epileptic encephalopathy 64"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18756"	"RHOBTB2"	"OMIM:618004"	"Epileptic encephalopathy, early infantile, 64"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 19:01:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69668"	"2021-09-28"
"GENCC_000101-HGNC_17686-OMIM_618761-HP_0000007-GENCC_100004"	"HGNC:17686"	"RIC1"	"MONDO:0032901"	"Catifa syndrome"	"OMIM:618761"	"CATIFA syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17686"	"RIC1"	"OMIM:618761"	"CATIFA syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-05 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14279"	"2025-01-17"
"GENCC_000101-HGNC_30338-MONDO_0005180-HP_0000006-GENCC_100004"	"HGNC:30338"	"RIC3"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30338"	"RIC3"	"MONDO:0005180"	"Parkinsons disease with non-motor phenotypes"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43125"	"2021-09-28"
"GENCC_000101-HGNC_30338-MONDO_0005395-HP_0000007-GENCC_100004"	"HGNC:30338"	"RIC3"	"MONDO:0005395"	"movement disorder"	"MONDO:0005395"	"movement disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30338"	"RIC3"	"MONDO:0005395"	"Child-onset movement disorder and cerebellar atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:01:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"431252"	"2021-09-28"
"GENCC_000101-HGNC_17283-OMIM_618970-HP_0000007-GENCC_100003"	"HGNC:17283"	"RIMS2"	"MONDO:0033543"	"cone-rod synaptic disorder syndrome, congenital nonprogressive"	"OMIM:618970"	"Cone-rod synaptic disorder syndrome, congenital nonprogressive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17283"	"RIMS2"	"OMIM:618970"	"Cone-rod synaptic disorder syndrome, congenital nonprogressive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-25 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14886"	"2025-01-17"
"GENCC_000101-HGNC_21876-OMIM_618641-HP_0000007-GENCC_100004"	"HGNC:21876"	"RINT1"	"MONDO:0032844"	"infantile liver failure syndrome 3"	"OMIM:618641"	"Infantile liver failure syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21876"	"RINT1"	"OMIM:618641"	"Infantile liver failure syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-06-28 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"12718"	"2021-09-28"
"GENCC_000101-HGNC_25117-MONDO_0009133-HP_0000007-GENCC_100004"	"HGNC:25117"	"RIPPLY1"	"MONDO:0009133"	"cerebellar ataxia, intellectual disability, and dysequilibrium"	"MONDO:0009133"	"cerebellar ataxia, intellectual disability, and dysequilibrium"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25117"	"RIPPLY1"	"MONDO:0009133"	"Intellectual Disability Associated with Ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"36863"	"2021-09-28"
"GENCC_000101-HGNC_21390-OMIM_616566-HP_0000007-GENCC_100004"	"HGNC:21390"	"RIPPLY2"	"MONDO:0014694"	"spondylocostal dysostosis 6, autosomal recessive"	"OMIM:616566"	"?Spondylocostal dysostosis 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21390"	"RIPPLY2"	"OMIM:616566"	"Spondylocostal dysostosis 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-14 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"890428"	"2021-09-28"
"GENCC_000101-HGNC_13429-OMIM_300978-HP_0001417-GENCC_100003"	"HGNC:13429"	"RLIM"	"MONDO:0010506"	"intellectual disability, X-linked 61"	"OMIM:300978"	"Tonne-Kalscheuer syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13429"	"RLIM"	"OMIM:300978"	"Tonne-Kalscheuer syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-09-29 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78896"	"2021-09-28"
"GENCC_000101-HGNC_21176-OMIM_614922-HP_0000007-GENCC_100003"	"HGNC:21176"	"RMND1"	"MONDO:0013969"	"combined oxidative phosphorylation defect type 11"	"OMIM:614922"	"Combined oxidative phosphorylation deficiency 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21176"	"RMND1"	"OMIM:614922"	"Combined oxidative phosphorylation deficiency 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-05-20 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77227"	"2021-09-28"
"GENCC_000101-HGNC_25671-OMIM_610181-HP_0000007-GENCC_100001"	"HGNC:25671"	"RNASEH2B"	"MONDO:0012429"	"Aicardi-Goutieres syndrome 2"	"OMIM:610181"	"Aicardi-Goutieres syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25671"	"RNASEH2B"	"OMIM:610181"	"Aicardi-Goutieres syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-17 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43168"	"2021-09-28"
"GENCC_000101-HGNC_25671-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:25671"	"RNASEH2B"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25671"	"RNASEH2B"	"MONDO:0008315"	"PROSTATE CANCER"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-21 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"431682"	"2021-09-28"
"GENCC_000101-HGNC_21686-OMIM_612951-HP_0000007-GENCC_100003"	"HGNC:21686"	"RNASET2"	"MONDO:0013058"	"cystic leukoencephalopathy without megalencephaly"	"OMIM:612951"	"Leukoencephalopathy, cystic, without megalencephaly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21686"	"RNASET2"	"OMIM:612951"	"Leukoencephalopathy, cystic, without megalencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-22 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5197"	"2021-09-28"
"GENCC_000101-HGNC_12974-OMIM_300953-HP_0001417-GENCC_100004"	"HGNC:12974"	"RNF113A"	"MONDO:0010495"	"trichothiodystrophy 5, nonphotosensitive"	"OMIM:300953"	"Trichothiodystrophy 5, nonphotosensitive"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12974"	"RNF113A"	"OMIM:300953"	"Trichothiodystrophy 5, nonphotosensitive"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-02 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4494"	"2021-09-28"
"GENCC_000101-HGNC_21150-OMIM_616260-HP_0000006-GENCC_100004"	"HGNC:21150"	"RNF125"	"MONDO:0014553"	"Tenorio syndrome"	"OMIM:616260"	"Tenorio syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21150"	"RNF125"	"OMIM:616260"	"Tenorio syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-25 19:01:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70308"	"2021-09-28"
"GENCC_000101-HGNC_10057-OMIM_618379-HP_0000006-GENCC_100004"	"HGNC:10057"	"RNF13"	"MONDO:0034106"	"developmental and epileptic encephalopathy, 73"	"OMIM:618379"	"Developmental and epileptic encephalopathy 73"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10057"	"RNF13"	"OMIM:618379"	"Epileptic encephalopathy, early infantile, 73"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-12-28 19:01:52"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88906"	"2021-09-28"
"GENCC_000101-HGNC_21158-MONDO_0019716-HP_0000006-GENCC_100004"	"HGNC:21158"	"RNF135"	"MONDO:0019716"	"overgrowth syndrome"	"MONDO:0019716"	"overgrowth syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21158"	"RNF135"	"MONDO:0019716"	"Macrocephaly, macrosomia, facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-30 19:01:52"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50656"	"2021-09-28"
"GENCC_000101-HGNC_32947-MONDO_0002442-HP_0000006-GENCC_100004"	"HGNC:32947"	"RNF207"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32947"	"RNF207"	"MONDO:0002442"	"LONG QT SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-12-27 19:01:52"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"955738"	"2021-09-28"
"GENCC_000101-HGNC_21698-OMIM_212840-HP_0000007-GENCC_100003"	"HGNC:21698"	"RNF216"	"MONDO:0008935"	"cerebellar ataxia-hypogonadism syndrome"	"OMIM:212840"	"Cerebellar ataxia and hypogonadotropic hypogonadism"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21698"	"RNF216"	"OMIM:212840"	"Cerebellar ataxia and hypogonadotropic hypogonadism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-05-29 19:01:52"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70041"	"2021-09-28"
"GENCC_000101-HGNC_10258-OMIM_618060-HP_0000006-GENCC_100003"	"HGNC:10258"	"RORA"	"MONDO:0060745"	"intellectual developmental disorder with or without epilepsy or cerebellar ataxia"	"OMIM:618060"	"Intellectual developmental disorder with or without epilepsy or cerebellar ataxia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10258"	"RORA"	"OMIM:618060"	"Intellectual developmental disorder with or without epilepsy or cerebellar ataxia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-16 19:01:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1237"	"2021-09-28"
"GENCC_000101-HGNC_10259-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:10259"	"RORB"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10259"	"RORB"	"MONDO:0100038"	"RORB-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-04 19:01:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1231"	"2021-09-28"
"GENCC_000101-HGNC_10261-MONDO_0007254-HP_0000006-GENCC_100004"	"HGNC:10261"	"ROS1"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10261"	"ROS1"	"MONDO:0007254"	"ROS1-related breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-02 19:01:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1235"	"2021-09-28"
"GENCC_000101-HGNC_10263-OMIM_180100-HP_0000006-GENCC_100001"	"HGNC:10263"	"RP1"	"MONDO:0008377"	"retinitis pigmentosa 1"	"OMIM:180100"	"Retinitis pigmentosa 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10263"	"RP1"	"OMIM:180100"	"Retinitis pigmentosa 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-31 19:01:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1828"	"2021-09-28"
"GENCC_000101-HGNC_10295-OMIM_300029-HP_0001417-GENCC_100001"	"HGNC:10295"	"RPGR"	"MONDO:0010227"	"retinitis pigmentosa 3"	"OMIM:300029"	"Retinitis pigmentosa 3"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10295"	"RPGR"	"OMIM:300029"	"Retinitis pigmentosa 3"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:01:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1829"	"2021-09-28"
"GENCC_000101-HGNC_17056-MONDO_0018940-HP_0000007-GENCC_100004"	"HGNC:17056"	"RPH3A"	"MONDO:0018940"	"congenital myasthenic syndrome"	"MONDO:0018940"	"congenital myasthenic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17056"	"RPH3A"	"MONDO:0018940"	"Congenital myasthenic syndrome: learning disabilities, tremors, ataxia, transient hyperglycemia, and muscle fatigability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-21 19:01:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"66537"	"2021-09-28"
"GENCC_000101-HGNC_10298-OMIM_300847-HP_0001417-GENCC_100004"	"HGNC:10298"	"RPL10"	"MONDO:0010449"	"autism, susceptibility to, X-linked 5"	"OMIM:300847"	"{Autism, susceptibility to, X-linked 5}"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10298"	"RPL10"	"OMIM:300847"	"Autism, susceptibility to, X-linked 5"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:01:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1890"	"2021-09-28"
"GENCC_000101-HGNC_10298-OMIM_300998-HP_0001417-GENCC_100003"	"HGNC:10298"	"RPL10"	"MONDO:0030908"	"intellectual disability, X-linked, syndromic, 35"	"OMIM:300998"	"Intellectual developmental disorder, X-linked syndromic 35"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10298"	"RPL10"	"OMIM:300998"	"Mental retardation, X-linked, syndromic, 35"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:01:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"18902"	"2021-09-28"
"GENCC_000101-HGNC_10303-OMIM_618728-HP_0000006-GENCC_100004"	"HGNC:10303"	"RPL13"	"MONDO:0032885"	"spondyloepimetaphyseal dysplasia, Isidor-Toutain type"	"OMIM:618728"	"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10303"	"RPL13"	"OMIM:618728"	"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-11-12 19:01:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1894"	"2021-09-28"
"GENCC_000101-HGNC_10310-OMIM_618310-HP_0000006-GENCC_100004"	"HGNC:10310"	"RPL18"	"MONDO:0032668"	"Diamond-Blackfan anemia 18"	"OMIM:618310"	"?Diamond-Blackfan anemia 18"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10310"	"RPL18"	"OMIM:618310"	"Diamond-Blackfan anemia 18"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1808"	"2021-09-28"
"GENCC_000101-HGNC_10351-MONDO_0005021-HP_0000007-GENCC_100004"	"HGNC:10351"	"RPL3L"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10351"	"RPL3L"	"MONDO:0005021"	"Severe, neonatal dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-12 19:01:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1869"	"2021-09-28"
"GENCC_000101-HGNC_10368-MONDO_0015253-HP_0000006-GENCC_100004"	"HGNC:10368"	"RPL8"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10368"	"RPL8"	"MONDO:0015253"	"AD Diamond-Blackfan anemia-like phenotype"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-18 19:01:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1896"	"2021-09-28"
"GENCC_000101-HGNC_10389-OMIM_618313-HP_0000006-GENCC_100004"	"HGNC:10389"	"RPS15A"	"MONDO:0032670"	"Diamond-Blackfan anemia 20"	"OMIM:618313"	"?Diamond-Blackfan anemia 20"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10389"	"RPS15A"	"OMIM:618313"	"Diamond-Blackfan anemia 20"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1682"	"2021-09-28"
"GENCC_000101-HGNC_10397-OMIM_612527-HP_0000006-GENCC_100002"	"HGNC:10397"	"RPS17"	"MONDO:0012924"	"Diamond-Blackfan anemia 4"	"OMIM:612527"	"Diamond-Blackfan anemia 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10397"	"RPS17"	"OMIM:612527"	"Diamond-Blackfan anemia 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-28 19:01:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1685"	"2021-09-28"
"GENCC_000101-HGNC_10402-OMIM_105650-HP_0000006-GENCC_100001"	"HGNC:10402"	"RPS19"	"MONDO:0007110"	"Diamond-Blackfan anemia 1"	"OMIM:105650"	"Diamond-Blackfan anemia 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10402"	"RPS19"	"OMIM:105650"	"Diamond-Blackfan anemia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-24 19:01:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1669"	"2021-09-28"
"GENCC_000101-HGNC_10405-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:10405"	"RPS20"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10405"	"RPS20"	"MONDO:0018630"	"Diamond Blackfan anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-28 19:01:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1660"	"2021-09-28"
"GENCC_000101-HGNC_10439-MONDO_0015742-HP_0000007-GENCC_100004"	"HGNC:10439"	"RPS6KC1"	"MONDO:0015742"	"periventricular leukomalacia"	"MONDO:0015742"	"periventricular leukomalacia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10439"	"RPS6KC1"	"MONDO:0015742"	"DD, white matter volume loss, thin corpus callosum, periventricular leukomalacia, delayed myelination, axial hypotonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"61472"	"2021-09-28"
"GENCC_000101-HGNC_10446-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:10446"	"RRAD"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10446"	"RRAD"	"MONDO:0015263"	"BRUGADA SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-24 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1691"	"2021-09-28"
"GENCC_000101-HGNC_17271-OMIM_618624-HP_0000006-GENCC_100003"	"HGNC:17271"	"RRAS2"	"MONDO:0032839"	"noonan syndrome 12"	"OMIM:618624"	"Noonan syndrome 12"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17271"	"RRAS2"	"OMIM:618624"	"Noonan syndrome 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-30 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"66522"	"2021-09-28"
"GENCC_000101-HGNC_17271-MONDO_0008170-HP_0000005-GENCC_100008"	"HGNC:17271"	"RRAS2"	"MONDO:0008170"	"ovarian cancer"	"MONDO:0008170"	"ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17271"	"RRAS2"	"MONDO:0008170"	"Ovarian carcinoma"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2019-05-30 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"665221"	"2021-09-28"
"GENCC_000101-HGNC_10457-OMIM_312700-HP_0001417-GENCC_100001"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked retinoschisis"	"OMIM:312700"	"Retinoschisis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10457"	"RS1"	"OMIM:312700"	"Retinoschisis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1604"	"2021-09-28"
"GENCC_000101-HGNC_12371-OMIM_615481-HP_0000007-GENCC_100003"	"HGNC:12371"	"RSPH1"	"MONDO:0014202"	"primary ciliary dyskinesia 24"	"OMIM:615481"	"Ciliary dyskinesia, primary, 24"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12371"	"RSPH1"	"OMIM:615481"	"Ciliary dyskinesia, primary, 24"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"53417"	"2021-09-28"
"GENCC_000101-HGNC_21054-OMIM_616481-HP_0000007-GENCC_100003"	"HGNC:21054"	"RSPH3"	"MONDO:0014657"	"primary ciliary dyskinesia 32"	"OMIM:616481"	"Ciliary dyskinesia, primary, 32"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21054"	"RSPH3"	"OMIM:616481"	"Ciliary dyskinesia, primary, 32"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"59518"	"2021-09-28"
"GENCC_000101-HGNC_21558-OMIM_612649-HP_0000007-GENCC_100002"	"HGNC:21558"	"RSPH4A"	"MONDO:0012978"	"primary ciliary dyskinesia 11"	"OMIM:612649"	"Ciliary dyskinesia, primary, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21558"	"RSPH4A"	"OMIM:612649"	"Ciliary dyskinesia, primary, 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-06-14 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"907537"	"2021-09-28"
"GENCC_000101-HGNC_16175-OMIM_206800-HP_0000007-GENCC_100002"	"HGNC:16175"	"RSPO4"	"MONDO:0008798"	"nonsyndromic congenital nail disorder 4"	"OMIM:206800"	"Anonychia congenita"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16175"	"RSPO4"	"OMIM:206800"	"Anonychia congenita"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-20 19:01:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"909194"	"2021-09-28"
"GENCC_000101-HGNC_29420-OMIM_616723-HP_0000007-GENCC_100003"	"HGNC:29420"	"RSPRY1"	"MONDO:0014748"	"progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"	"OMIM:616723"	"Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29420"	"RSPRY1"	"OMIM:616723"	"Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-06 19:02:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"53342"	"2021-09-28"
"GENCC_000101-HGNC_30559-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:30559"	"RSRC2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30559"	"RSRC2"	"MONDO:0100038"	"DD, autistic behavior, seizures, myopia, strabismus, obesity"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"17884"	"2021-09-28"
"GENCC_000101-HGNC_15888-OMIM_616373-HP_0000006-GENCC_100002"	"HGNC:15888"	"RTEL1"	"MONDO:0014613"	"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"	"OMIM:616373"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15888"	"RTEL1"	"OMIM:616373"	"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:02:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78472"	"2021-09-28"
"GENCC_000101-HGNC_18647-OMIM_616732-HP_0000007-GENCC_100003"	"HGNC:18647"	"RTN4IP1"	"MONDO:0020737"	"optic atrophy 10 with or without ataxia, intellectual disability, and seizures"	"OMIM:616732"	"Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18647"	"RTN4IP1"	"OMIM:616732"	"Optic atrophy 10 with or without ataxia, mental retardation, and seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-15 19:02:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50581"	"2021-09-28"
"GENCC_000101-HGNC_18654-OMIM_614833-HP_0000007-GENCC_100003"	"HGNC:18654"	"RTTN"	"MONDO:0013907"	"bilateral generalized polymicrogyria"	"OMIM:614833"	"Microcephaly, short stature, and polymicrogyria with seizures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18654"	"RTTN"	"OMIM:614833"	"Microcephaly, short stature, and polymicrogyria with seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-29 19:02:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"67380"	"2021-09-28"
"GENCC_000101-HGNC_28991-OMIM_615705-HP_0000007-GENCC_100004"	"HGNC:28991"	"RUBCN"	"MONDO:0014311"	"autosomal recessive spinocerebellar ataxia 15"	"OMIM:615705"	"Spinocerebellar ataxia, autosomal recessive 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28991"	"RUBCN"	"OMIM:615705"	"Spinocerebellar ataxia, autosomal recessive 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-29 19:02:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3488"	"2021-09-28"
"GENCC_000101-HGNC_17318-MONDO_0009047-HP_0000007-GENCC_100004"	"HGNC:17318"	"RXFP2"	"MONDO:0009047"	"cryptorchidism"	"MONDO:0009047"	"cryptorchidism"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17318"	"RXFP2"	"MONDO:0009047"	""	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-06-27 19:02:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"866206"	"2021-09-28"
"GENCC_000101-HGNC_10483-OMIM_145600-HP_0000006-GENCC_100001"	"HGNC:10483"	"RYR1"	"MONDO:0007783"	"malignant hyperthermia, susceptibility to, 1"	"OMIM:145600"	"{Malignant hyperthermia susceptibility 1}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10483"	"RYR1"	"OMIM:145600"	"King-Denborough syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-10-30 19:02:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1618"	"2021-09-28"
"GENCC_000101-HGNC_10524-OMIM_107480-HP_0000006-GENCC_100001"	"HGNC:10524"	"SALL1"	"MONDO:0054581"	"Townes-Brocks syndrome 1"	"OMIM:107480"	"Townes-Brocks branchiootorenal-like syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10524"	"SALL1"	"OMIM:107480"	"Townes-Brocks syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-02 19:02:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1633"	"2021-09-28"
"GENCC_000101-HGNC_15924-OMIM_607323-HP_0000006-GENCC_100001"	"HGNC:15924"	"SALL4"	"MONDO:0011812"	"Duane-radial ray syndrome"	"OMIM:607323"	"Duane-radial ray syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15924"	"SALL4"	"OMIM:607323"	"Duane-radial ray syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-26 19:02:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74814"	"2021-09-28"
"GENCC_000101-HGNC_28706-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:28706"	"SAMD11"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28706"	"SAMD11"	"MONDO:0019200"	"AR RETINITIS PIGMENTOSA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"805935"	"2021-09-28"
"GENCC_000101-HGNC_1348-OMIM_617053-HP_0000006-GENCC_100001"	"HGNC:1348"	"SAMD9"	"MONDO:0014888"	"MIRAGE syndrome"	"OMIM:617053"	"MIRAGE syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1348"	"SAMD9"	"OMIM:617053"	"MIRAGE syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18205"	"2023-08-19"
"GENCC_000101-HGNC_1348-OMIM_610455-HP_0000007-GENCC_100003"	"HGNC:1348"	"SAMD9"	"MONDO:0012502"	"normophosphatemic familial tumoral calcinosis"	"OMIM:610455"	"Tumoral calcinosis, familial, normophosphatemic"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1348"	"SAMD9"	"OMIM:610455"	"Tumoral calcinosis, familial, normophosphatemic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-03 19:02:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"705231"	"2021-09-28"
"GENCC_000101-HGNC_15925-OMIM_612952-HP_0000007-GENCC_100001"	"HGNC:15925"	"SAMHD1"	"MONDO:0013059"	"Aicardi-Goutieres syndrome 5"	"OMIM:612952"	"Aicardi-Goutieres syndrome 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15925"	"SAMHD1"	"OMIM:612952"	"Aicardi-Goutieres syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-25 19:02:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"67393"	"2021-09-28"
"GENCC_000101-HGNC_17697-OMIM_613845-HP_0000007-GENCC_100004"	"HGNC:17697"	"SARS2"	"MONDO:0013458"	"hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"	"OMIM:613845"	"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17697"	"SARS2"	"OMIM:613845"	"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-01 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61033"	"2025-01-17"
"GENCC_000101-HGNC_16860-MONDO_0019212-HP_0000006-GENCC_100003"	"HGNC:16860"	"SART3"	"MONDO:0019212"	"disseminated superficial actinic porokeratosis"	"MONDO:0019212"	"disseminated superficial actinic porokeratosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16860"	"SART3"	"MONDO:0019212"	""	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-14 19:02:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3499"	"2021-09-28"
"GENCC_000101-HGNC_19182-OMIM_618373-HP_0000007-GENCC_100004"	"HGNC:19182"	"SASH1"	"MONDO:0018657"	"pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"	"OMIM:618373"	"?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19182"	"SASH1"	"OMIM:618373"	"Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69965"	"2021-09-28"
"GENCC_000101-HGNC_19182-OMIM_127500-HP_0000006-GENCC_100002"	"HGNC:19182"	"SASH1"	"MONDO:0024524"	"dyschromatosis universalis hereditaria 1"	"OMIM:127500"	"Dyschromatosis universalis hereditaria 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19182"	"SASH1"	"OMIM:127500"	"Dyschromatosis universalis hereditaria 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-04 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14246"	"2025-01-17"
"GENCC_000101-HGNC_10542-OMIM_615284-HP_0000007-GENCC_100004"	"HGNC:10542"	"SBF1"	"MONDO:0014117"	"Charcot-Marie-Tooth disease type 4B3"	"OMIM:615284"	"Charcot-Marie-Tooth disease, type 4B3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10542"	"SBF1"	"OMIM:615284"	"Charcot-Marie-Tooth disease, type 4B3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-02 19:02:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1927"	"2021-09-28"
"GENCC_000101-HGNC_2135-OMIM_604563-HP_0000007-GENCC_100002"	"HGNC:2135"	"SBF2"	"MONDO:0011475"	"Charcot-Marie-Tooth disease type 4B2"	"OMIM:604563"	"Charcot-Marie-Tooth disease, type 4B2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2135"	"SBF2"	"OMIM:604563"	"Charcot-Marie-Tooth disease, type 4B2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-07-31 19:02:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"58501"	"2021-09-28"
"GENCC_000101-HGNC_19304-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:19304"	"SCAF4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19304"	"SCAF4"	"MONDO:0100038"	"SCAF4-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-31 19:02:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74011"	"2021-09-28"
"GENCC_000101-HGNC_30386-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:30386"	"SCAMP5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30386"	"SCAMP5"	"MONDO:0100038"	"SCAMP5-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-07 19:02:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"836159"	"2021-09-28"
"GENCC_000101-HGNC_30386-MONDO_0005027-HP_0000007-GENCC_100004"	"HGNC:30386"	"SCAMP5"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30386"	"SCAMP5"	"MONDO:0005027"	"SCAMP5-related early onset epilepsy and Parkinsons"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-07 19:02:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8361591"	"2021-09-28"
"GENCC_000101-HGNC_13081-OMIM_618195-HP_0000007-GENCC_100003"	"HGNC:13081"	"SCAPER"	"MONDO:0032594"	"intellectual developmental disorder and retinitis pigmentosa; IDDRP"	"OMIM:618195"	"Intellectual developmental disorder and retinitis pigmentosa"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13081"	"SCAPER"	"OMIM:618195"	"Intellectual developmental disorder and retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-03 19:02:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"03577"	"2021-09-28"
"GENCC_000101-HGNC_19869-OMIM_600920-HP_0000007-GENCC_100003"	"HGNC:19869"	"SCARF2"	"MONDO:0010959"	"van den Ende-Gupta syndrome"	"OMIM:600920"	"Van den Ende-Gupta syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19869"	"SCARF2"	"OMIM:600920"	"Van den Ende-Gupta syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-31 19:02:04"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"38843"	"2021-09-28"
"GENCC_000101-HGNC_15678-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:15678"	"SCHIP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15678"	"SCHIP1"	"MONDO:0100038"	"AR global developmental delay, learning difficulties, facial dysmorphism, hearing impairments, and cataract"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-12 19:02:04"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"63342"	"2021-09-28"
"GENCC_000101-HGNC_26406-MONDO_0017842-HP_0000007-GENCC_100004"	"HGNC:26406"	"SCLT1"	"MONDO:0017842"	"Senior-Loken syndrome"	"MONDO:0017842"	"Senior-Loken syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26406"	"SCLT1"	"MONDO:0017842"	"Senior-Loken"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-12-03 19:02:04"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"896962"	"2021-09-28"
"GENCC_000101-HGNC_10589-OMIM_615378-HP_0000006-GENCC_100003"	"HGNC:10589"	"SCN2B"	"MONDO:0014156"	"atrial fibrillation, familial, 14"	"OMIM:615378"	"Atrial fibrillation, familial, 14"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10589"	"SCN2B"	"OMIM:615378"	"Atrial fibrillation, familial, 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 19:02:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1964"	"2021-09-28"
"GENCC_000101-HGNC_10591-OMIM_614198-HP_0000007-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0013620"	"congenital myasthenic syndrome 16"	"OMIM:614198"	"Myasthenic syndrome, congenital, 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10591"	"SCN4A"	"OMIM:614198"	"Myasthenic syndrome, congenital, 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-07-03 19:02:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1963"	"2021-09-28"
"GENCC_000101-HGNC_10596-OMIM_614306-HP_0000006-GENCC_100002"	"HGNC:10596"	"SCN8A"	"MONDO:0013680"	"cognitive impairment with or without cerebellar ataxia"	"OMIM:614306"	"Cognitive impairment with or without cerebellar ataxia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10596"	"SCN8A"	"OMIM:614306"	"Cognitive impairment with or without cerebellar ataxia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-03-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"1240"	"2023-08-19"
"GENCC_000101-HGNC_10596-OMIM_614558-HP_0000006-GENCC_100001"	"HGNC:10596"	"SCN8A"	"MONDO:0013801"	"developmental and epileptic encephalopathy, 13"	"OMIM:614558"	"Developmental and epileptic encephalopathy 13"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10596"	"SCN8A"	"OMIM:614558"	"Developmental and epileptic encephalopathy 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-23 19:02:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"19901"	"2021-09-28"
"GENCC_000101-HGNC_10596-OMIM_618364-HP_0000006-GENCC_100004"	"HGNC:10596"	"SCN8A"	"MONDO:0100092"	"myoclonus, familial, 2"	"OMIM:618364"	"?Myoclonus, familial, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10596"	"SCN8A"	"OMIM:618364"	"Myoclonus, familial, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-12 19:02:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"19903"	"2021-09-28"
"GENCC_000101-HGNC_10599-OMIM_264350-HP_0000007-GENCC_100001"	"HGNC:10599"	"SCNN1A"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"OMIM:264350"	"Pseudohypoaldosteronism, type IB1, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10599"	"SCNN1A"	"OMIM:264350"	"Pseudohypoaldosteronism, type I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-13 19:02:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1994"	"2021-09-28"
"GENCC_000101-HGNC_10599-OMIM_613021-HP_0000006-GENCC_100003"	"HGNC:10599"	"SCNN1A"	"MONDO:0013087"	"bronchiectasis with or without elevated sweat chloride 2"	"OMIM:613021"	"Bronchiectasis with or without elevated sweat chloride 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10599"	"SCNN1A"	"OMIM:613021"	"Bronchiectasis with or without elevated sweat chloride 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-13 19:02:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"19943"	"2021-09-28"
"GENCC_000101-HGNC_10602-OMIM_618114-HP_0000006-GENCC_100003"	"HGNC:10602"	"SCNN1G"	"MONDO:0020854"	"Liddle syndrome 2"	"OMIM:618114"	"Liddle syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10602"	"SCNN1G"	"OMIM:618114"	"Liddle syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-23 19:02:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1902"	"2021-09-28"
"GENCC_000101-HGNC_10603-OMIM_619048-HP_0000007-GENCC_100003"	"HGNC:10603"	"SCO1"	"MONDO:0033636"	"mitochondrial complex 4 deficiency, nuclear type 4"	"OMIM:619048"	"Mitochondrial complex IV deficiency, nuclear type 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10603"	"SCO1"	"OMIM:619048"	"Mitochondrial complex IV deficiency, nuclear type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-12-27 19:02:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1908"	"2021-09-28"
"GENCC_000101-HGNC_30377-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:30377"	"SCRIB"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30377"	"SCRIB"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-06 19:02:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69789"	"2021-09-28"
"GENCC_000101-HGNC_14372-OMIM_616719-HP_0000007-GENCC_100003"	"HGNC:14372"	"SCYL1"	"MONDO:0014744"	"acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"	"OMIM:616719"	"Spinocerebellar ataxia, autosomal recessive 21"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14372"	"SCYL1"	"OMIM:616719"	"Spinocerebellar ataxia, autosomal recessive 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-11-12 19:02:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74082"	"2021-09-28"
"GENCC_000101-HGNC_19286-OMIM_618766-HP_0000007-GENCC_100003"	"HGNC:19286"	"SCYL2"	"MONDO:0032903"	"arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum"	"OMIM:618766"	"Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19286"	"SCYL2"	"OMIM:618766"	"Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-23 19:02:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77158"	"2021-09-28"
"GENCC_000101-HGNC_33867-OMIM_252011-HP_0000007-GENCC_100003"	"HGNC:33867"	"SDHAF1"	"MONDO:0009641"	"mitochondrial complex II deficiency"	"OMIM:252011"	"Mitochondrial complex II deficiency, nuclear type 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:33867"	"SDHAF1"	"OMIM:252011"	"Mitochondrial complex II deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-07-01 19:02:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"100231"	"2021-09-28"
"GENCC_000101-HGNC_26034-OMIM_601650-HP_0000006-GENCC_100003"	"HGNC:26034"	"SDHAF2"	"MONDO:0011121"	"paragangliomas 2"	"OMIM:601650"	"Pheochromocytoma/paraganglioma syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26034"	"SDHAF2"	"OMIM:601650"	"Pheochromocytoma/paraganglioma syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-21 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61034"	"2025-01-17"
"GENCC_000101-HGNC_10683-OMIM_168000-HP_0000006-GENCC_100001"	"HGNC:10683"	"SDHD"	"MONDO:0008192"	"paragangliomas 1"	"OMIM:168000"	"Pheochromocytoma/paraganglioma syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10683"	"SDHD"	"OMIM:168000"	"Paragangliomas 1, with or without deafness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:02:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1936"	"2021-09-28"
"GENCC_000101-HGNC_10683-OMIM_252011-HP_0000007-GENCC_100003"	"HGNC:10683"	"SDHD"	"MONDO:0009641"	"mitochondrial complex II deficiency"	"OMIM:252011"	"Mitochondrial complex II deficiency, nuclear type 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10683"	"SDHD"	"OMIM:252011"	"Mitochondrial complex II deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1936"	"2021-09-28"
"GENCC_000101-HGNC_19308-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:19308"	"SDK2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19308"	"SDK2"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-01 19:02:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70703"	"2021-09-28"
"GENCC_000101-HGNC_10706-OMIM_616294-HP_0000007-GENCC_100003"	"HGNC:10706"	"SEC24D"	"MONDO:0014573"	"Cole-Carpenter syndrome 2"	"OMIM:616294"	"Cole-Carpenter syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10706"	"SEC24D"	"OMIM:616294"	"Cole-Carpenter syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-09 19:02:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3548"	"2021-09-28"
"GENCC_000101-HGNC_10706-MONDO_0005027-HP_0000007-GENCC_100004"	"HGNC:10706"	"SEC24D"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10706"	"SEC24D"	"MONDO:0005027"	"Epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-09 19:02:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"35483"	"2021-09-28"
"GENCC_000101-HGNC_21082-OMIM_617004-HP_0000006-GENCC_100001"	"HGNC:21082"	"SEC63"	"MONDO:0014860"	"polycystic liver disease 2"	"OMIM:617004"	"Polycystic liver disease 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21082"	"SEC63"	"OMIM:617004"	"Polycystic liver disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2019-12-10 19:02:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88698"	"2021-09-28"
"GENCC_000101-HGNC_10727-OMIM_214800-HP_0000006-GENCC_100004"	"HGNC:10727"	"SEMA3E"	"MONDO:0008965"	"CHARGE syndrome"	"OMIM:214800"	"CHARGE syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10727"	"SEMA3E"	"OMIM:214800"	"CHARGE syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-29 19:02:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3469"	"2021-09-28"
"GENCC_000101-HGNC_10727-MONDO_0018800-HP_0000006-GENCC_100004"	"HGNC:10727"	"SEMA3E"	"MONDO:0018800"	"Kallmann syndrome"	"MONDO:0018800"	"Kallmann syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10727"	"SEMA3E"	"MONDO:0018800"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"34693"	"2021-09-28"
"GENCC_000101-HGNC_10739-OMIM_618876-HP_0000006-GENCC_100003"	"HGNC:10739"	"SEMA6B"	"MONDO:0030034"	"epilepsy, progressive myoclonic, 11"	"OMIM:618876"	"Epilepsy, progressive myoclonic, 11"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10739"	"SEMA6B"	"OMIM:618876"	"Epilepsy, progressive myoclonic, 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-13 19:02:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82728"	"2021-09-28"
"GENCC_000101-HGNC_16770-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:16770"	"SEMA6D"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16770"	"SEMA6D"	"MONDO:0100038"	"Neurodev"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"522983"	"2021-09-28"
"GENCC_000101-HGNC_8952-OMIM_617115-HP_0000006-GENCC_100004"	"HGNC:8952"	"SERPINB8"	"MONDO:0014923"	"peeling skin syndrome 5"	"OMIM:617115"	"Peeling skin syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8952"	"SERPINB8"	"OMIM:617115"	"Peeling skin syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7648"	"2021-09-28"
"GENCC_000101-HGNC_8583-OMIM_613329-HP_0000007-GENCC_100004"	"HGNC:8583"	"SERPINE1"	"MONDO:0013227"	"congenital plasminogen activator inhibitor type 1 deficiency"	"OMIM:613329"	"Plasminogen activator inhibitor-1 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8583"	"SERPINE1"	"OMIM:613329"	"Plasminogen activator inhibitor-1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-05 19:02:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7270"	"2021-09-28"
"GENCC_000101-HGNC_1546-OMIM_613848-HP_0000007-GENCC_100003"	"HGNC:1546"	"SERPINH1"	"MONDO:0013459"	"osteogenesis imperfecta type 10"	"OMIM:613848"	"Osteogenesis imperfecta, type X"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1546"	"SERPINH1"	"OMIM:613848"	"Osteogenesis imperfecta, type X"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-12 19:02:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"548"	"2021-09-28"
"GENCC_000101-HGNC_10760-OMIM_618106-HP_0000006-GENCC_100001"	"HGNC:10760"	"SET"	"MONDO:0020847"	"intellectual disability, autosomal dominant 58"	"OMIM:618106"	"Intellectual developmental disorder, autosomal dominant 58"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10760"	"SET"	"OMIM:618106"	"Intellectual developmental disorder, autosomal dominant 58"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-13 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18290"	"2025-01-17"
"GENCC_000101-HGNC_29010-OMIM_618832-HP_0000006-GENCC_100004"	"HGNC:29010"	"SETD1A"	"MONDO:0030005"	"epilepsy, early-onset, with or without developmental delay"	"OMIM:618832"	"Epilepsy, early-onset, 2, with or without developmental delay"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29010"	"SETD1A"	"OMIM:618832"	"Epilepsy, early-onset, with or without developmental delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-07-01 19:02:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3493"	"2021-09-28"
"GENCC_000101-HGNC_29187-OMIM_619000-HP_0000006-GENCC_100003"	"HGNC:29187"	"SETD1B"	"MONDO:0033559"	"intellectual developmental disorder with seizures and language delay"	"OMIM:619000"	"Intellectual developmental disorder with seizures and language delay"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29187"	"SETD1B"	"OMIM:619000"	"Intellectual developmental disorder with seizures and language delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-26 19:02:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69214"	"2021-09-28"
"GENCC_000101-HGNC_445-OMIM_602433-HP_0000006-GENCC_100001"	"HGNC:445"	"SETX"	"MONDO:0011223"	"amyotrophic lateral sclerosis type 4"	"OMIM:602433"	"Amyotrophic lateral sclerosis 4, juvenile"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:445"	"SETX"	"OMIM:602433"	"Amyotrophic lateral sclerosis 4, juvenile"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-18 19:02:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69210"	"2021-09-28"
"GENCC_000101-HGNC_445-OMIM_606002-HP_0000007-GENCC_100001"	"HGNC:445"	"SETX"	"MONDO:0018996"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	"OMIM:606002"	"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:445"	"SETX"	"OMIM:606002"	"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-18 19:02:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"692103"	"2021-09-28"
"GENCC_000101-HGNC_10778-OMIM_265900-HP_0000007-GENCC_100003"	"HGNC:10778"	"SFRP4"	"MONDO:0009943"	"Pyle disease"	"OMIM:265900"	"Pyle disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10778"	"SFRP4"	"OMIM:265900"	"Pyle disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1060"	"2021-09-28"
"GENCC_000101-HGNC_16088-OMIM_615578-HP_0000007-GENCC_100003"	"HGNC:16088"	"SFXN4"	"MONDO:0014261"	"growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"	"OMIM:615578"	"Combined oxidative phosphorylation deficiency 18"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16088"	"SFXN4"	"OMIM:615578"	"Combined oxidative phosphorylation deficiency 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-26 19:02:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"883773"	"2021-09-28"
"GENCC_000101-HGNC_10808-OMIM_159900-HP_0000006-GENCC_100001"	"HGNC:10808"	"SGCE"	"MONDO:0008044"	"myoclonic dystonia 11"	"OMIM:159900"	"Dystonia-11, myoclonic"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10808"	"SGCE"	"OMIM:159900"	"Dystonia-11, myoclonic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:02:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5382"	"2021-09-28"
"GENCC_000101-HGNC_10809-OMIM_253700-HP_0000007-GENCC_100001"	"HGNC:10809"	"SGCG"	"MONDO:0009677"	"autosomal recessive limb-girdle muscular dystrophy type 2C"	"OMIM:253700"	"Muscular dystrophy, limb-girdle, autosomal recessive 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10809"	"SGCG"	"OMIM:253700"	"Muscular dystrophy, limb-girdle, autosomal recessive 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-30 19:02:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1007"	"2021-09-28"
"GENCC_000101-HGNC_10812-MONDO_0024300-HP_0000006-GENCC_100004"	"HGNC:10812"	"SGK3"	"MONDO:0024300"	"hypophosphatemic rickets"	"MONDO:0024300"	"hypophosphatemic rickets"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10812"	"SGK3"	"MONDO:0024300"	"HYPOPHOSPHATEMIC RICKETS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-30 19:02:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69145"	"2021-09-28"
"GENCC_000101-HGNC_10817-OMIM_617575-HP_0000007-GENCC_100003"	"HGNC:10817"	"SGPL1"	"MONDO:0033203"	"nephrotic syndrome 14"	"OMIM:617575"	"RENI syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10817"	"SGPL1"	"OMIM:617575"	"Nephrotic syndrome, type 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 19:02:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5543"	"2021-09-28"
"GENCC_000101-HGNC_10818-OMIM_252900-HP_0000006-GENCC_100001"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"OMIM:252900"	"Mucopolysaccharidosis type IIIA (Sanfilippo A)"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10818"	"SGSH"	"OMIM:252900"	"Mucopolysaccharidosis type IIIA (Sanfilippo A)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-04-18 19:02:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1005"	"2021-09-28"
"GENCC_000101-HGNC_14294-OMIM_606232-HP_0000006-GENCC_100002"	"HGNC:14294"	"SHANK3"	"MONDO:0011652"	"Phelan-McDermid syndrome"	"OMIM:606232"	"Phelan-McDermid syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14294"	"SHANK3"	"OMIM:606232"	"Phelan-McDermid syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-12 19:02:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"57975"	"2021-09-28"
"GENCC_000101-HGNC_10848-OMIM_147250-HP_0000006-GENCC_100003"	"HGNC:10848"	"SHH"	"MONDO:0007819"	"solitary median maxillary central incisor syndrome"	"OMIM:147250"	"Single median maxillary central incisor"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10848"	"SHH"	"OMIM:147250"	"Single median maxillary central incisor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-07 19:02:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1013"	"2021-09-28"
"GENCC_000101-HGNC_10848-OMIM_142945-HP_0000006-GENCC_100001"	"HGNC:10848"	"SHH"	"MONDO:0007733"	"holoprosencephaly 3"	"OMIM:142945"	"Holoprosencephaly 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10848"	"SHH"	"OMIM:142945"	"Holoprosencephaly 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-07 19:02:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"10133"	"2021-09-28"
"GENCC_000101-HGNC_10848-MONDO_0005172-HP_0000006-GENCC_100003"	"HGNC:10848"	"SHH"	"MONDO:0005172"	"skeletal system disorder"	"MONDO:0005172"	"skeletal system disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10848"	"SHH"	"MONDO:0005172"	"skeletal system disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-07 19:02:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"10134"	"2021-09-28"
"GENCC_000101-HGNC_10852-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:10852"	"SHMT2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10852"	"SHMT2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-11-04 19:02:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1046"	"2021-09-28"
"GENCC_000101-HGNC_10853-OMIM_127300-HP_0001417-GENCC_100001"	"HGNC:10853"	"SHOX"	"MONDO:0007481"	"Leri-Weill dyschondrosteosis"	"OMIM:127300"	"Leri-Weill dyschondrosteosis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10853"	"SHOX"	"OMIM:127300"	"Leri-Weill dyschondrosteosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-27 19:02:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1049"	"2021-09-28"
"GENCC_000101-HGNC_10853-OMIM_249700-HP_0000005-GENCC_100003"	"HGNC:10853"	"SHOX"	"MONDO:0009588"	"Langer mesomelic dysplasia"	"OMIM:249700"	"Langer mesomelic dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10853"	"SHOX"	"OMIM:249700"	"Langer mesomelic dysplasia"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-27 19:02:14"	"Pseudoautosomal region, recessive"	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"10494"	"2021-09-28"
"GENCC_000101-HGNC_1492-OMIM_617213-HP_0000007-GENCC_100004"	"HGNC:1492"	"SHPK"	"MONDO:0014969"	"isolated sedoheptulokinase deficiency"	"OMIM:617213"	"[Sedoheptulokinase deficiency]"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1492"	"SHPK"	"OMIM:617213"	"Sedoheptulokinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-12 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"12051"	"2024-01-02"
"GENCC_000101-HGNC_10857-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:10857"	"SIAH1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10857"	"SIAH1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-05-22 19:02:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1044"	"2021-09-28"
"GENCC_000101-HGNC_10882-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:10882"	"SIM1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10882"	"SIM1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-06-09 19:02:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1036"	"2021-09-28"
"GENCC_000101-HGNC_19353-MONDO_0005711-HP_0000006-GENCC_100004"	"HGNC:19353"	"SIN3A"	"MONDO:0005711"	"congenital diaphragmatic hernia"	"MONDO:0005711"	"congenital diaphragmatic hernia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19353"	"SIN3A"	"MONDO:0005711"	"congenital diaphragmatic hernia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-14 19:02:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"67306"	"2021-09-28"
"GENCC_000101-HGNC_19353-OMIM_613406-HP_0000006-GENCC_100002"	"HGNC:19353"	"SIN3A"	"MONDO:0013256"	"chromosome 15q24 deletion syndrome"	"OMIM:613406"	"Witteveen-Kolk syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19353"	"SIN3A"	"OMIM:613406"	"Witteveen-Kolk syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-14 19:02:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"673064"	"2021-09-28"
"GENCC_000101-HGNC_23801-OMIM_616851-HP_0032113-GENCC_100004"	"HGNC:23801"	"SIPA1L3"	"MONDO:0014799"	"cataract 45"	"OMIM:616851"	"?Cataract 45"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23801"	"SIPA1L3"	"OMIM:616851"	"Cataract 45"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69230"	"2021-09-28"
"GENCC_000101-HGNC_32695-MONDO_0005071-HP_0000007-GENCC_100004"	"HGNC:32695"	"SKOR2"	"MONDO:0005071"	"nervous system disorder"	"MONDO:0005071"	"nervous system disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32695"	"SKOR2"	"MONDO:0005071"	"Nervous system disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-17 19:02:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"176338"	"2021-09-28"
"GENCC_000101-HGNC_23088-OMIM_618363-HP_0000007-GENCC_100003"	"HGNC:23088"	"SLC10A7"	"MONDO:0032703"	"short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis"	"OMIM:618363"	"Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23088"	"SLC10A7"	"OMIM:618363"	"Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-10 19:02:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50215"	"2021-09-28"
"GENCC_000101-HGNC_10908-OMIM_206100-HP_0000007-GENCC_100003"	"HGNC:10908"	"SLC11A2"	"MONDO:0008787"	"microcytic anemia with liver iron overload"	"OMIM:206100"	"Anemia, hypochromic microcytic, with iron overload 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10908"	"SLC11A2"	"OMIM:206100"	"Anemia, hypochromic microcytic, with iron overload 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-19 19:02:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"0538"	"2021-09-28"
"GENCC_000101-HGNC_10914-OMIM_218000-HP_0000006-GENCC_100004"	"HGNC:10914"	"SLC12A6"	"MONDO:0000902"	"agenesis of the corpus callosum with peripheral neuropathy"	"OMIM:218000"	"Agenesis of the corpus callosum with peripheral neuropathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10914"	"SLC12A6"	"OMIM:218000"	"Agenesis of the corpus callosum with peripheral neuropathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-04 19:02:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3332"	"2021-09-28"
"GENCC_000101-HGNC_14430-OMIM_618384-HP_0000007-GENCC_100004"	"HGNC:14430"	"SLC13A3"	"MONDO:0032716"	"leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"OMIM:618384"	"Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14430"	"SLC13A3"	"OMIM:618384"	"Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-13 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11475"	"2025-01-17"
"GENCC_000101-HGNC_10935-OMIM_618049-HP_0000007-GENCC_100003"	"HGNC:10935"	"SLC18A2"	"MONDO:0054836"	"parkinsonism-dystonia, infantile, 2"	"OMIM:618049"	"Parkinsonism-dystonia, infantile, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10935"	"SLC18A2"	"OMIM:618049"	"Parkinsonism-dystonia, infantile, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-28 19:02:17"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1748"	"2021-09-28"
"GENCC_000101-HGNC_10936-OMIM_617239-HP_0000007-GENCC_100004"	"HGNC:10936"	"SLC18A3"	"MONDO:0014983"	"congenital myasthenic syndrome 21"	"OMIM:617239"	"Myasthenic syndrome, congenital, 21, presynaptic"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10936"	"SLC18A3"	"OMIM:617239"	"Myasthenic syndrome, congenital, 21, presynaptic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-17 19:02:17"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1746"	"2021-09-28"
"GENCC_000101-HGNC_10940-OMIM_617105-HP_0000007-GENCC_100003"	"HGNC:10940"	"SLC1A2"	"MONDO:0014916"	"developmental and epileptic encephalopathy, 41"	"OMIM:617105"	"Developmental and epileptic encephalopathy 41"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10940"	"SLC1A2"	"OMIM:617105"	"Developmental and epileptic encephalopathy 41"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-05-17 19:02:18"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1721"	"2021-09-28"
"GENCC_000101-HGNC_10978-OMIM_615887-HP_0000007-GENCC_100003"	"HGNC:10978"	"SLC24A4"	"MONDO:0014385"	"amelogenesis imperfecta hypomaturation type 2A5"	"OMIM:615887"	"Amelogenesis imperfecta, type IIA5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10978"	"SLC24A4"	"OMIM:615887"	"Amelogenesis imperfecta, type IIA5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-14 19:02:18"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"869208"	"2021-09-28"
"GENCC_000101-HGNC_20611-OMIM_113750-HP_0000007-GENCC_100001"	"HGNC:20611"	"SLC24A5"	"MONDO:0018264"	"oculocutaneous albinism type 6"	"OMIM:113750"	"Albinism, oculocutaneous, type VI"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20611"	"SLC24A5"	"OMIM:113750"	"Albinism, oculocutaneous, type VI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-11-15 19:02:18"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"659176"	"2021-09-28"
"GENCC_000101-HGNC_10979-OMIM_615182-HP_0000007-GENCC_100004"	"HGNC:10979"	"SLC25A1"	"MONDO:0014072"	"D,L-2-hydroxyglutaric aciduria"	"OMIM:615182"	"Combined D-2- and L-2-hydroxyglutaric aciduria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10979"	"SLC25A1"	"OMIM:615182"	"Combined D-2- and L-2-hydroxyglutaric aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-02-24 19:02:18"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1741"	"2021-09-28"
"GENCC_000101-HGNC_10980-OMIM_618972-HP_0000007-GENCC_100003"	"HGNC:10980"	"SLC25A10"	"MONDO:0033545"	"mitochondrial DNA depletion syndrome 19"	"OMIM:618972"	"?Mitochondrial DNA depletion syndrome 19"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10980"	"SLC25A10"	"OMIM:618972"	"Mitochondrial DNA depletion syndrome 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-12-18 19:02:18"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8015"	"2021-09-28"
"GENCC_000101-HGNC_14411-OMIM_618811-HP_0000007-GENCC_100004"	"HGNC:14411"	"SLC25A21"	"MONDO:0032932"	"mitochondrial DNA depletion syndrome 18"	"OMIM:618811"	"?Mitochondrial DNA depletion syndrome 18"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14411"	"SLC25A21"	"OMIM:618811"	"Mitochondrial DNA depletion syndrome 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-12 19:02:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"53540"	"2021-09-28"
"GENCC_000101-HGNC_10989-OMIM_610773-HP_0000007-GENCC_100004"	"HGNC:10989"	"SLC25A3"	"MONDO:0012557"	"cardiomyopathy-hypotonia-lactic acidosis syndrome"	"OMIM:610773"	"Mitochondrial phosphate carrier deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10989"	"SLC25A3"	"OMIM:610773"	"Mitochondrial phosphate carrier deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-09 19:02:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7672"	"2021-09-28"
"GENCC_000101-HGNC_28380-OMIM_618416-HP_0000007-GENCC_100003"	"HGNC:28380"	"SLC25A42"	"MONDO:0032736"	"metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression"	"OMIM:618416"	"Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28380"	"SLC25A42"	"OMIM:618416"	"Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-25 19:02:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"650093"	"2021-09-28"
"GENCC_000101-HGNC_10991-MONDO_0001071-HP_0001417-GENCC_100004"	"HGNC:10991"	"SLC25A5"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10991"	"SLC25A5"	"MONDO:0001071"	"intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-26 19:02:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"636"	"2021-09-28"
"GENCC_000101-HGNC_10993-OMIM_167030-HP_0000007-GENCC_100003"	"HGNC:10993"	"SLC26A1"	"MONDO:0020722"	"nephrolithiasis susceptibility caused by SLC26A1"	"OMIM:167030"	"?Nephrolithiasis, calcium oxalate, 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10993"	"SLC26A1"	"OMIM:167030"	"Nephrolithiasis, calcium oxalate"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-02 19:02:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82518"	"2021-09-28"
"GENCC_000101-HGNC_3018-OMIM_214700-HP_0000007-GENCC_100001"	"HGNC:3018"	"SLC26A3"	"MONDO:0008964"	"congenital secretory chloride diarrhea 1"	"OMIM:214700"	"Diarrhea 1, secretory chloride, congenital"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3018"	"SLC26A3"	"OMIM:214700"	"Diarrhea 1, secretory chloride, congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-30 19:02:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8588"	"2021-09-28"
"GENCC_000101-HGNC_8818-OMIM_600791-HP_0000007-GENCC_100001"	"HGNC:8818"	"SLC26A4"	"MONDO:0010933"	"autosomal recessive nonsyndromic hearing loss 4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8818"	"SLC26A4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-07-21 19:02:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7846"	"2021-09-28"
"GENCC_000101-HGNC_8818-OMIM_274600-HP_0000007-GENCC_100001"	"HGNC:8818"	"SLC26A4"	"MONDO:0010134"	"Pendred syndrome"	"OMIM:274600"	"Pendred syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8818"	"SLC26A4"	"OMIM:274600"	"Pendred syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-07-21 19:02:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78464"	"2021-09-28"
"GENCC_000101-HGNC_9359-OMIM_613865-HP_0000007-GENCC_100003"	"HGNC:9359"	"SLC26A5"	"MONDO:0013471"	"autosomal recessive nonsyndromic hearing loss 61"	"OMIM:613865"	"?Deafness, autosomal recessive 61"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9359"	"SLC26A5"	"OMIM:613865"	"Deafness, autosomal recessive 61"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-12 19:02:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"947188"	"2021-09-28"
"GENCC_000101-HGNC_14467-MONDO_0018612-HP_0000007-GENCC_100002"	"HGNC:14467"	"SLC26A7"	"MONDO:0018612"	"congenital hypothyroidism"	"MONDO:0018612"	"congenital hypothyroidism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14467"	"SLC26A7"	"MONDO:0018612"	"AR congenital hypothyroidism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-01-10 19:02:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"887888"	"2021-09-28"
"GENCC_000101-HGNC_14468-OMIM_606766-HP_0000006-GENCC_100008"	"HGNC:14468"	"SLC26A8"	"MONDO:0011720"	"spermatogenic failure 3"	"OMIM:606766"	"Spermatogenic failure 3"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14468"	"SLC26A8"	"OMIM:606766"	"Spermatogenic failure 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2018-08-31 19:02:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"881913"	"2021-09-28"
"GENCC_000101-HGNC_13444-OMIM_208050-HP_0000007-GENCC_100001"	"HGNC:13444"	"SLC2A10"	"MONDO:0008818"	"arterial tortuosity syndrome"	"OMIM:208050"	"Arterial tortuosity syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13444"	"SLC2A10"	"OMIM:208050"	"Arterial tortuosity syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 19:02:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"58298"	"2021-09-28"
"GENCC_000101-HGNC_11011-MONDO_0004994-HP_0000006-GENCC_100004"	"HGNC:11011"	"SLC2A6"	"MONDO:0004994"	"cardiomyopathy"	"MONDO:0004994"	"cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11011"	"SLC2A6"	"MONDO:0004994"	"cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-02-14 19:02:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88856"	"2021-09-28"
"GENCC_000101-HGNC_11022-OMIM_300896-HP_0001417-GENCC_100002"	"HGNC:11022"	"SLC35A2"	"MONDO:0010478"	"SLC35A2-congenital disorder of glycosylation"	"OMIM:300896"	"Congenital disorder of glycosylation, type IIm"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11022"	"SLC35A2"	"OMIM:300896"	"Congenital disorder of glycosylation, type IIm"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-06-27 19:02:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4977"	"2021-09-28"
"GENCC_000101-HGNC_20197-OMIM_266265-HP_0000007-GENCC_100002"	"HGNC:20197"	"SLC35C1"	"MONDO:0009953"	"leukocyte adhesion deficiency type II"	"OMIM:266265"	"Congenital disorder of glycosylation, type IIc"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20197"	"SLC35C1"	"OMIM:266265"	"Congenital disorder of glycosylation, type IIc"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-04-23 19:02:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77909"	"2021-09-28"
"GENCC_000101-HGNC_23617-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:23617"	"SLC35F5"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23617"	"SLC35F5"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"52677"	"2021-09-28"
"GENCC_000101-HGNC_28480-MONDO_0100133-HP_0000007-GENCC_100004"	"HGNC:28480"	"SLC35G2"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28480"	"SLC35G2"	"MONDO:0100133"	"mitochondrial complex I deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-09 19:02:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"52469"	"2021-09-28"
"GENCC_000101-HGNC_20859-OMIM_612350-HP_0000007-GENCC_100004"	"HGNC:20859"	"SLC39A13"	"MONDO:0012873"	"Ehlers-Danlos syndrome, spondylocheirodysplastic type"	"OMIM:612350"	"Ehlers-Danlos syndrome, spondylodysplastic type, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20859"	"SLC39A13"	"OMIM:612350"	"Ehlers-Danlos syndrome, spondylodysplastic type, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-02 19:02:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"386764"	"2021-09-28"
"GENCC_000101-HGNC_20858-OMIM_144755-HP_0000006-GENCC_100004"	"HGNC:20858"	"SLC39A14"	"MONDO:0007765"	"hyperostosis cranialis interna"	"OMIM:144755"	"?Hyperostosis cranalis interna"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20858"	"SLC39A14"	"OMIM:144755"	"Hyperostosis cranalis interna"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-17 19:02:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69781"	"2021-09-28"
"GENCC_000101-HGNC_17129-OMIM_201100-HP_0000007-GENCC_100001"	"HGNC:17129"	"SLC39A4"	"MONDO:0008713"	"acrodermatitis enteropathica"	"OMIM:201100"	"Acrodermatitis enteropathica"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17129"	"SLC39A4"	"OMIM:201100"	"Acrodermatitis enteropathica"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-30 19:02:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77192"	"2021-09-28"
"GENCC_000101-HGNC_30521-OMIM_229050-HP_0000007-GENCC_100002"	"HGNC:30521"	"SLC46A1"	"MONDO:0009238"	"hereditary folate malabsorption"	"OMIM:229050"	"Folate malabsorption, hereditary"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30521"	"SLC46A1"	"OMIM:229050"	"Folate malabsorption, hereditary"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:02:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"889697"	"2021-09-28"
"GENCC_000101-HGNC_30225-OMIM_615026-HP_0000006-GENCC_100004"	"HGNC:30225"	"SLC52A1"	"MONDO:0014013"	"maternal riboflavin deficiency"	"OMIM:615026"	"Riboflavin deficiency"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30225"	"SLC52A1"	"OMIM:615026"	"Riboflavin deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77217"	"2021-09-28"
"GENCC_000101-HGNC_16187-OMIM_211500-HP_0000007-GENCC_100003"	"HGNC:16187"	"SLC52A3"	"MONDO:0008890"	"progressive bulbar palsy"	"OMIM:211500"	"?Fazio-Londe disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16187"	"SLC52A3"	"OMIM:211500"	"Fazio-Londe disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"889645"	"2021-09-28"
"GENCC_000101-HGNC_16187-OMIM_211530-HP_0000007-GENCC_100001"	"HGNC:16187"	"SLC52A3"	"MONDO:0024537"	"Brown-Vialetto-van Laere syndrome 1"	"OMIM:211530"	"Brown-Vialetto-Van Laere syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16187"	"SLC52A3"	"OMIM:211530"	"Brown-Vialetto-Van Laere syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-30 19:02:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8896454"	"2021-09-28"
"GENCC_000101-HGNC_11036-OMIM_606824-HP_0000007-GENCC_100001"	"HGNC:11036"	"SLC5A1"	"MONDO:0011731"	"glucose-galactose malabsorption"	"OMIM:606824"	"Glucose/galactose malabsorption"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11036"	"SLC5A1"	"OMIM:606824"	"Glucose/galactose malabsorption"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-02-09 19:02:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1769"	"2021-09-28"
"GENCC_000101-HGNC_11041-OMIM_618973-HP_0000007-GENCC_100003"	"HGNC:11041"	"SLC5A6"	"MONDO:0033546"	"neurodegeneration, infantile-onset, biotin-responsive"	"OMIM:618973"	"Sodium-dependent multivitamin transporter deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11041"	"SLC5A6"	"OMIM:618973"	"Neurodegeneration, infantile-onset, biotin-responsive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-26 19:02:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5550"	"2021-09-28"
"GENCC_000101-HGNC_31399-OMIM_616269-HP_0000007-GENCC_100004"	"HGNC:31399"	"SLC6A17"	"MONDO:0014559"	"progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"	"OMIM:616269"	"Intellectual developmental disorder, autosomal recessive 48"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31399"	"SLC6A17"	"OMIM:616269"	"Mental retardation, autosomal recessive 48"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"955116"	"2021-09-28"
"GENCC_000101-HGNC_11051-OMIM_614618-HP_0000007-GENCC_100002"	"HGNC:11051"	"SLC6A5"	"MONDO:0013827"	"hyperekplexia 3"	"OMIM:614618"	"Hyperekplexia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11051"	"SLC6A5"	"OMIM:614618"	"Hyperekplexia 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-10-09 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3876"	"2021-09-28"
"GENCC_000101-HGNC_11061-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:11061"	"SLC7A3"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11061"	"SLC7A3"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50553"	"2021-09-28"
"GENCC_000101-HGNC_11063-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:11063"	"SLC7A5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11063"	"SLC7A5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-26 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5802"	"2021-09-28"
"GENCC_000101-HGNC_25807-MONDO_0005027-HP_0000007-GENCC_100004"	"HGNC:25807"	"SLC7A6OS"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25807"	"SLC7A6OS"	"MONDO:0005027"	"Epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-23 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50895"	"2021-09-28"
"GENCC_000101-HGNC_11075-OMIM_612287-HP_0000006-GENCC_100003"	"HGNC:11075"	"NHERF1"	"MONDO:0012851"	"hypophosphatemic nephrolithiasis/osteoporosis 2"	"OMIM:612287"	"Nephrolithiasis/osteoporosis, hypophosphatemic, 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11075"	"SLC9A3R1"	"OMIM:612287"	"Nephrolithiasis/osteoporosis, hypophosphatemic, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3915"	"2021-09-28"
"GENCC_000101-HGNC_17123-OMIM_301024-HP_0001417-GENCC_100004"	"HGNC:17123"	"SLC9A7"	"MONDO:0026723"	"intellectual developmental disorder, X-linked 108"	"OMIM:301024"	"Intellectual developmental disorder, X-linked 108"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17123"	"SLC9A7"	"OMIM:301024"	"Intellectual developmental disorder, X-linked 108"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-02-25 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50143"	"2021-09-28"
"GENCC_000101-HGNC_13819-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:13819"	"SLCO1C1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13819"	"SLCO1C1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-26 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"79383"	"2021-09-28"
"GENCC_000101-HGNC_32689-OMIM_616913-HP_0000006-GENCC_100003"	"HGNC:32689"	"SLFN14"	"MONDO:0014830"	"platelet-type bleeding disorder 20"	"OMIM:616913"	"Bleeding disorder, platelet-type, 20"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32689"	"SLFN14"	"OMIM:616913"	"Bleeding disorder, platelet-type, 20"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-14 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"906185"	"2021-09-28"
"GENCC_000101-HGNC_20297-OMIM_137580-HP_0000006-GENCC_100004"	"HGNC:20297"	"SLITRK1"	"MONDO:0007661"	"Tourette syndrome"	"OMIM:137580"	"{Gilles de la Tourette syndrome, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20297"	"SLITRK1"	"OMIM:137580"	"Tourette syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"880435"	"2021-09-28"
"GENCC_000101-HGNC_23503-OMIM_221200-HP_0000007-GENCC_100003"	"HGNC:23503"	"SLITRK6"	"MONDO:0009082"	"high myopia-sensorineural deafness syndrome"	"OMIM:221200"	"Deafness and myopia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23503"	"SLITRK6"	"OMIM:221200"	"Deafness and myopia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-23 19:02:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50853"	"2021-09-28"
"GENCC_000101-HGNC_6768-MONDO_0005453-HP_0000006-GENCC_100003"	"HGNC:6768"	"SMAD2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6768"	"SMAD2"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-06 19:02:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"0254"	"2021-09-28"
"GENCC_000101-HGNC_6772-OMIM_179300-HP_0000007-GENCC_100004"	"HGNC:6772"	"SMAD6"	"MONDO:0017985"	"congenital radioulnar synostosis"	"OMIM:179300"	"{Radioulnar synostosis, nonsyndromic}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6772"	"SMAD6"	"OMIM:179300"	"Radioulnar synostosis, nonsyndromic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-10 19:02:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"0238"	"2021-09-28"
"GENCC_000101-HGNC_6772-OMIM_614823-HP_0000006-GENCC_100003"	"HGNC:6772"	"SMAD6"	"MONDO:0013902"	"aortic valve disease 2"	"OMIM:614823"	"Aortic valve disease 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6772"	"SMAD6"	"OMIM:614823"	"Aortic valve disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65338"	"2023-08-19"
"GENCC_000101-HGNC_11098-OMIM_601358-HP_0000006-GENCC_100001"	"HGNC:11098"	"SMARCA2"	"MONDO:0011053"	"intellectual disability-sparse hair-brachydactyly syndrome"	"OMIM:601358"	"Nicolaides-Baraitser syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11098"	"SMARCA2"	"OMIM:601358"	"Nicolaides-Baraitser syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2015-08-05 19:02:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"17375"	"2021-09-28"
"GENCC_000101-HGNC_11100-OMIM_614609-HP_0000006-GENCC_100002"	"HGNC:11100"	"SMARCA4"	"MONDO:0013821"	"intellectual disability, autosomal dominant 16"	"OMIM:614609"	"Coffin-Siris syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11100"	"SMARCA4"	"OMIM:614609"	"Coffin-Siris syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-09-29 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1763"	"2024-01-02"
"GENCC_000101-HGNC_11100-OMIM_613325-HP_0000006-GENCC_100002"	"HGNC:11100"	"SMARCA4"	"MONDO:0013224"	"rhabdoid tumor predisposition syndrome 2"	"OMIM:613325"	"{Rhabdoid tumor predisposition syndrome 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11100"	"SMARCA4"	"OMIM:613325"	"Rhabdoid tumor predisposition syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-09-29 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78286"	"2024-01-02"
"GENCC_000101-HGNC_11103-OMIM_609322-HP_0000006-GENCC_100001"	"HGNC:11103"	"SMARCB1"	"MONDO:0012252"	"rhabdoid tumor predisposition syndrome 1"	"OMIM:609322"	"{Rhabdoid tumor predisposition syndrome 1}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11103"	"SMARCB1"	"OMIM:609322"	"Rhabdoid tumor predisposition syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-10-14 19:02:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1735"	"2021-09-28"
"GENCC_000101-HGNC_11103-OMIM_614608-HP_0000006-GENCC_100003"	"HGNC:11103"	"SMARCB1"	"MONDO:0013820"	"intellectual disability, autosomal dominant 15"	"OMIM:614608"	"Coffin-Siris syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11103"	"SMARCB1"	"OMIM:614608"	"Coffin-Siris syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-30 19:02:27"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"17355"	"2021-09-28"
"GENCC_000101-HGNC_11103-OMIM_162091-HP_0000006-GENCC_100002"	"HGNC:11103"	"SMARCB1"	"MONDO:0024517"	"SMARCB1-related schwannomatosis"	"OMIM:162091"	"{Schwannomatosis-1, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11103"	"SMARCB1"	"OMIM:162091"	"Schwannomatosis-1, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-07-30 19:02:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"17356"	"2021-09-28"
"GENCC_000101-HGNC_11103-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:11103"	"SMARCB1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11103"	"SMARCB1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-09 19:02:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"17358"	"2021-09-28"
"GENCC_000101-HGNC_11105-OMIM_618362-HP_0000006-GENCC_100001"	"HGNC:11105"	"SMARCC2"	"MONDO:0032702"	"Coffin-Siris syndrome 8"	"OMIM:618362"	"Coffin-Siris syndrome 8"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11105"	"SMARCC2"	"OMIM:618362"	"Coffin-Siris syndrome 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-20 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11995"	"2025-01-17"
"GENCC_000101-HGNC_11106-OMIM_618779-HP_0000006-GENCC_100003"	"HGNC:11106"	"SMARCD1"	"MONDO:0032912"	"Coffin-Siris syndrome 11"	"OMIM:618779"	"Coffin-Siris syndrome 11"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11106"	"SMARCD1"	"OMIM:618779"	"Coffin-Siris syndrome 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-13 19:02:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1126"	"2021-09-28"
"GENCC_000101-HGNC_11109-OMIM_607174-HP_0000006-GENCC_100001"	"HGNC:11109"	"SMARCE1"	"MONDO:0011789"	"familial meningioma"	"OMIM:607174"	"Meningioma, SIS-related"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11109"	"SMARCE1"	"OMIM:607174"	"Meningioma, familial, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-06-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"66407"	"2023-08-19"
"GENCC_000101-HGNC_11109-OMIM_616938-HP_0000006-GENCC_100003"	"HGNC:11109"	"SMARCE1"	"MONDO:0014838"	"Coffin-Siris syndrome 5"	"OMIM:616938"	"Coffin-Siris syndrome 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11109"	"SMARCE1"	"OMIM:616938"	"Coffin-Siris syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-03 19:02:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"11278"	"2021-09-28"
"GENCC_000101-HGNC_29090-OMIM_603457-HP_0000006-GENCC_100002"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"OMIM:603457"	"Bosma arhinia microphthalmia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29090"	"SMCHD1"	"OMIM:603457"	"Bosma arhinia microphthalmia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-05 19:02:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69904"	"2021-09-28"
"GENCC_000101-HGNC_11119-MONDO_0007959-HP_0000006-GENCC_100004"	"HGNC:11119"	"SMO"	"MONDO:0007959"	"medulloblastoma"	"MONDO:0007959"	"medulloblastoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11119"	"SMO"	"MONDO:0007959"	"medulloblastoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:30"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1125"	"2021-09-28"
"GENCC_000101-HGNC_11119-OMIM_241800-HP_0000007-GENCC_100003"	"HGNC:11119"	"SMO"	"MONDO:0009436"	"congenital hypothalamic hamartoma syndrome"	"OMIM:241800"	"Pallister-Hall-like syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11119"	"SMO"	"OMIM:241800"	"Pallister-Hall-like syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-21 19:02:30"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"11258"	"2021-09-28"
"GENCC_000101-HGNC_32949-OMIM_618622-HP_0000007-GENCC_100003"	"HGNC:32949"	"SMPD4"	"MONDO:0032838"	"neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	"OMIM:618622"	"Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32949"	"SMPD4"	"OMIM:618622"	"Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-10-03 19:02:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77164"	"2021-09-28"
"GENCC_000101-HGNC_20986-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:20986"	"SMYD1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20986"	"SMYD1"	"MONDO:0005045"	"HYPERTROPHIC CARDIOMYOPATHY"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-02 19:02:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"872746"	"2021-09-28"
"GENCC_000101-HGNC_11132-MONDO_0100062-HP_0000006-GENCC_100003"	"HGNC:11132"	"SNAP25"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11132"	"SNAP25"	"MONDO:0100062"	"Developmental encepholpathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-03 19:02:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1181"	"2021-09-28"
"GENCC_000101-HGNC_11151-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:11151"	"SNRPA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11151"	"SNRPA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-21 19:02:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1161"	"2021-09-28"
"GENCC_000101-HGNC_11153-OMIM_117650-HP_0032113-GENCC_100003"	"HGNC:11153"	"SNRPB"	"MONDO:0007301"	"cerebrocostomandibular syndrome"	"OMIM:117650"	"Cerebrocostomandibular syndrome"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11153"	"SNRPB"	"OMIM:117650"	"Cerebrocostomandibular syndrome"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 19:02:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1165"	"2021-09-28"
"GENCC_000101-HGNC_11167-OMIM_612955-HP_0000006-GENCC_100004"	"HGNC:11167"	"SNTA1"	"MONDO:0013062"	"long QT syndrome 12"	"OMIM:612955"	"Long QT syndrome 12"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11167"	"SNTA1"	"OMIM:612955"	"Long QT syndrome 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-30 19:02:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1102"	"2021-09-28"
"GENCC_000101-HGNC_14977-OMIM_616354-HP_0000007-GENCC_100002"	"HGNC:14977"	"SNX14"	"MONDO:0014601"	"autosomal recessive spinocerebellar ataxia 20"	"OMIM:616354"	"Spinocerebellar ataxia, autosomal recessive 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14977"	"SNX14"	"OMIM:616354"	"Spinocerebellar ataxia, autosomal recessive 20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-25 19:02:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74698"	"2021-09-28"
"GENCC_000101-HGNC_19383-MONDO_0007179-HP_0000006-GENCC_100004"	"HGNC:19383"	"SOCS1"	"MONDO:0007179"	"autoimmune disease"	"MONDO:0007179"	"autoimmune disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19383"	"SOCS1"	"MONDO:0007179"	"autoimmune disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-29 19:02:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5178"	"2021-09-28"
"GENCC_000101-HGNC_19392-MONDO_0007179-HP_0000006-GENCC_100004"	"HGNC:19392"	"SOCS4"	"MONDO:0007179"	"autoimmune disease"	"MONDO:0007179"	"autoimmune disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19392"	"SOCS4"	"MONDO:0007179"	"autoimmune disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"866523"	"2021-09-28"
"GENCC_000101-HGNC_11180-MONDO_0004994-HP_0000007-GENCC_100004"	"HGNC:11180"	"SOD2"	"MONDO:0004994"	"cardiomyopathy"	"MONDO:0004994"	"cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11180"	"SOD2"	"MONDO:0004994"	"cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-09-19 19:02:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1105"	"2021-09-28"
"GENCC_000101-HGNC_27845-OMIM_617690-HP_0000006-GENCC_100004"	"HGNC:27845"	"SOHLH1"	"MONDO:0054666"	"ovarian dysgenesis 5"	"OMIM:617690"	"Ovarian dysgenesis 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27845"	"SOHLH1"	"OMIM:617690"	"Ovarian dysgenesis 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"026958"	"2021-09-28"
"GENCC_000101-HGNC_27845-MONDO_0002146-HP_0000007-GENCC_100004"	"HGNC:27845"	"SOHLH1"	"MONDO:0002146"	"hypogonadism"	"MONDO:0002146"	"hypogonadism"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27845"	"SOHLH1"	"MONDO:0002146"	"hypogonadism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"269588"	"2021-09-28"
"GENCC_000101-HGNC_16699-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:16699"	"SORCS3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16699"	"SORCS3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-02 19:02:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"66351"	"2021-09-28"
"GENCC_000101-HGNC_11184-OMIM_618912-HP_0000007-GENCC_100003"	"HGNC:11184"	"SORD"	"MONDO:0030055"	"neuronopathy, distal hereditary motor, autosomal recessive 8"	"OMIM:618912"	"Neuronopathy, distal hereditary motor, autosomal recessive 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11184"	"SORD"	"OMIM:618912"	"Sorbitol dehydrogenase deficiency with peripheral neuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-05-19 19:02:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1176"	"2021-09-28"
"GENCC_000101-HGNC_11190-OMIM_609136-HP_0000006-GENCC_100002"	"HGNC:11190"	"SOX10"	"MONDO:0012198"	"PCWH syndrome"	"OMIM:609136"	"PCWH syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11190"	"SOX10"	"OMIM:609136"	"PCWH syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-04-23 19:02:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1119"	"2021-09-28"
"GENCC_000101-HGNC_11190-OMIM_613266-HP_0000006-GENCC_100001"	"HGNC:11190"	"SOX10"	"MONDO:0013202"	"Waardenburg syndrome type 4C"	"OMIM:613266"	"Waardenburg syndrome, type 4C"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11190"	"SOX10"	"OMIM:613266"	"Waardenburg syndrome, type 4C"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-03-24 19:02:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"11198"	"2021-09-28"
"GENCC_000101-HGNC_11194-OMIM_607823-HP_0000006-GENCC_100003"	"HGNC:11194"	"SOX18"	"MONDO:0011914"	"hypotrichosis-lymphedema-telangiectasia syndrome"	"OMIM:607823"	"Hypotrichosis-lymphedema-telangiectasia syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11194"	"SOX18"	"OMIM:607823"	"Hypotrichosis-lymphedema-telangiectasia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70907"	"2021-09-28"
"GENCC_000101-HGNC_11199-OMIM_312000-HP_0001417-GENCC_100004"	"HGNC:11199"	"SOX3"	"MONDO:0010712"	"panhypopituitarism, X-linked"	"OMIM:312000"	"Panhypopituitarism, X-linked"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11199"	"SOX3"	"OMIM:312000"	"Panhypopituitarism, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-09 19:02:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1175"	"2021-09-28"
"GENCC_000101-HGNC_11199-OMIM_300123-HP_0001417-GENCC_100004"	"HGNC:11199"	"SOX3"	"MONDO:0010252"	"intellectual disability, X-linked, with panhypopituitarism"	"OMIM:300123"	"Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11199"	"SOX3"	"OMIM:300123"	"Mental retardation, X-linked, with isolated growth hormone deficiency"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-09 19:02:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"11758"	"2021-09-28"
"GENCC_000101-HGNC_16421-OMIM_618971-HP_0000006-GENCC_100003"	"HGNC:16421"	"SOX6"	"MONDO:0033544"	"Tolchin-Le Caignec syndrome"	"OMIM:618971"	"Tolchin-Le Caignec syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16421"	"SOX6"	"OMIM:618971"	"Tolchin-Le Caignec syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-03 19:02:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77779"	"2021-09-28"
"GENCC_000101-HGNC_14524-MONDO_0005090-HP_0000006-GENCC_100004"	"HGNC:14524"	"SPAG9"	"MONDO:0005090"	"schizophrenia"	"MONDO:0005090"	"schizophrenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14524"	"SPAG9"	"MONDO:0005090"	"schizophrenia (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3209"	"2021-09-28"
"GENCC_000101-HGNC_20423-OMIM_604232-HP_0000007-GENCC_100001"	"HGNC:20423"	"SPATA7"	"MONDO:0011415"	"Leber congenital amaurosis 3"	"OMIM:604232"	"Retinitis pigmentosa 94, variable age at onset, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20423"	"SPATA7"	"OMIM:604232"	"Retinitis pigmentosa, juvenile, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-07-12 19:02:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77586"	"2021-09-28"
"GENCC_000101-HGNC_1298-MONDO_0005365-HP_0000006-GENCC_100004"	"HGNC:1298"	"SPATC1L"	"MONDO:0005365"	"hearing loss disorder"	"MONDO:0005365"	"hearing loss disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1298"	"SPATC1L"	"MONDO:0005365"	"hearing loss disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-09-14 19:02:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50668"	"2021-09-28"
"GENCC_000101-HGNC_26010-MONDO_0001149-HP_0000007-GENCC_100004"	"HGNC:26010"	"SPDL1"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26010"	"SPDL1"	"MONDO:0001149"	"microcephaly (disease)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70325"	"2021-09-28"
"GENCC_000101-HGNC_29022-OMIM_600251-HP_0000006-GENCC_100004"	"HGNC:29022"	"SPECC1L"	"MONDO:0010850"	"Tessier number 4 facial cleft"	"OMIM:600251"	"?Facial clefting, oblique, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29022"	"SPECC1L"	"OMIM:600251"	"Facial clefting, oblique, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69950"	"2021-09-28"
"GENCC_000101-HGNC_29022-OMIM_145410-HP_0000006-GENCC_100003"	"HGNC:29022"	"SPECC1L"	"MONDO:0007779"	"autosomal dominant Opitz G/BBB syndrome"	"OMIM:145410"	"OMIM:145410"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29022"	"SPECC1L"	"OMIM:145410"	"Opitz GBBB syndrome, type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"699508"	"2021-09-28"
"GENCC_000101-HGNC_29022-OMIM_145420-HP_0000006-GENCC_100003"	"HGNC:29022"	"SPECC1L"	"MONDO:0007780"	"hypertelorism, Teebi type"	"OMIM:145420"	"Teebi hypertelorism syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29022"	"SPECC1L"	"OMIM:145420"	"Hypertelorism, Teebi type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-15 19:02:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"699509"	"2021-09-28"
"GENCC_000101-HGNC_20373-OMIM_248900-HP_0000007-GENCC_100004"	"HGNC:20373"	"SPG21"	"MONDO:0009568"	"mast syndrome"	"OMIM:248900"	"Mast syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20373"	"SPG21"	"OMIM:248900"	"Mast syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-07-26 19:02:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78960"	"2021-09-28"
"GENCC_000101-HGNC_11247-OMIM_270420-HP_0000007-GENCC_100003"	"HGNC:11247"	"SPINT2"	"MONDO:0010036"	"congenital secretory sodium diarrhea 3"	"OMIM:270420"	"Diarrhea 3, secretory sodium, congenital, syndromic"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11247"	"SPINT2"	"OMIM:270420"	"Diarrhea 3, secretory sodium, congenital, syndromic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-26 19:02:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82179"	"2021-09-28"
"GENCC_000101-HGNC_11254-OMIM_618828-HP_0000006-GENCC_100003"	"HGNC:11254"	"SPOP"	"MONDO:0032942"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"OMIM:618828"	"Nabais Sa-de Vries syndrome, type 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11254"	"SPOP"	"OMIM:618828"	"Nabais Sa-de Vries syndrome, type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-06 19:02:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5027"	"2021-09-28"
"GENCC_000101-HGNC_20249-OMIM_611431-HP_0000006-GENCC_100001"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"OMIM:611431"	"Legius syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20249"	"SPRED1"	"OMIM:611431"	"Legius syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-30 19:02:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"818406"	"2021-09-28"
"GENCC_000101-HGNC_25356-OMIM_616200-HP_0000007-GENCC_100003"	"HGNC:25356"	"SPRTN"	"MONDO:0014527"	"progeroid features-hepatocellular carcinoma predisposition syndrome"	"OMIM:616200"	"Ruijs-Aalfs syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25356"	"SPRTN"	"OMIM:616200"	"Ruijs-Aalfs syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-13 19:02:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"59396"	"2021-09-28"
"GENCC_000101-HGNC_11270-OMIM_616818-HP_0000006-GENCC_100004"	"HGNC:11270"	"SPRY2"	"MONDO:0014786"	"IgA nephropathy, susceptibility to, 3"	"OMIM:616818"	"{?IgA nephropathy, susceptibility to, 3}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11270"	"SPRY2"	"OMIM:616818"	"IgA nephropathy, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82679"	"2021-09-28"
"GENCC_000101-HGNC_11273-OMIM_613477-HP_0000006-GENCC_100002"	"HGNC:11273"	"SPTAN1"	"MONDO:0013277"	"developmental and epileptic encephalopathy, 5"	"OMIM:613477"	"Developmental and epileptic encephalopathy 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11273"	"SPTAN1"	"OMIM:613477"	"Developmental and epileptic encephalopathy 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-02 23:11:04"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13353"	"2024-01-02"
"GENCC_000101-HGNC_11278-OMIM_613640-HP_0000006-GENCC_100002"	"HGNC:11278"	"SPTLC2"	"MONDO:0013337"	"neuropathy, hereditary sensory and autonomic, type 1C"	"OMIM:613640"	"Neuropathy, hereditary sensory and autonomic, type IC"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11278"	"SPTLC2"	"OMIM:613640"	"Neuropathy, hereditary sensory and autonomic, type IC"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-05-15 19:02:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3784"	"2021-09-28"
"GENCC_000101-HGNC_16974-OMIM_136140-HP_0000006-GENCC_100001"	"HGNC:16974"	"SRCAP"	"MONDO:0007621"	"Floating-Harbor syndrome"	"OMIM:136140"	"Floating-Harbor syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16974"	"SRCAP"	"OMIM:136140"	"Floating-Harbor syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-05-20 19:02:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82504"	"2021-09-28"
"GENCC_000101-HGNC_11289-OMIM_619016-HP_0000006-GENCC_100002"	"HGNC:11289"	"SREBF1"	"MONDO:0100221"	"IFAP syndrome 2"	"OMIM:619016"	"Ichthyosis, follicular, with atrichia and photophobia syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11289"	"SREBF1"	"OMIM:619016"	"Ichthyosis, follicular, with atrichia and photophobia syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-05-23 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14898"	"2025-01-17"
"GENCC_000101-HGNC_11292-MONDO_0005045-HP_0000006-GENCC_100006"	"HGNC:11292"	"SRI"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11292"	"SRI"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100006"	"Refuted Evidence"	"2018-08-30 19:02:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1484"	"2021-09-28"
"GENCC_000101-HGNC_11402-MONDO_0001071-HP_0001417-GENCC_100004"	"HGNC:11402"	"SRPK3"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11402"	"SRPK3"	"MONDO:0001071"	"intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-28 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"61741"	"2021-09-28"
"GENCC_000101-HGNC_11307-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:11307"	"SRPRA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11307"	"SRPRA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-03 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1490"	"2021-09-28"
"GENCC_000101-HGNC_30668-OMIM_300643-HP_0001417-GENCC_100005"	"HGNC:30668"	"SRPX2"	"MONDO:0010388"	"rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked"	"OMIM:300643"	"?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30668"	"SRPX2"	"OMIM:300643"	"Rolandic epilepsy, mental retardation, and speech dyspraxia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2019-02-01 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"64651"	"2021-09-28"
"GENCC_000101-HGNC_11311-OMIM_400045-HP_0001417-GENCC_100001"	"HGNC:11311"	"SRY"	"MONDO:0010766"	"46,XX sex reversal 1"	"OMIM:400045"	"46XX sex reversal 1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11311"	"SRY"	"OMIM:400045"	"46XX sex reversal 1"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1491"	"2021-09-28"
"GENCC_000101-HGNC_11326-OMIM_300934-HP_0001417-GENCC_100003"	"HGNC:11326"	"SSR4"	"MONDO:0010490"	"SSR4-congenital disorder of glycosylation"	"OMIM:300934"	"Congenital disorder of glycosylation, type Iy"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11326"	"SSR4"	"OMIM:300934"	"Congenital disorder of glycosylation, type Iy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1405"	"2021-09-28"
"GENCC_000101-HGNC_11351-MONDO_0100062-HP_0000007-GENCC_100004"	"HGNC:11351"	"ST7"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11351"	"ST7"	"MONDO:0100062"	"Developmental encepholpathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4356"	"2021-09-28"
"GENCC_000101-HGNC_10870-MONDO_0005090-HP_0000006-GENCC_100004"	"HGNC:10870"	"ST8SIA2"	"MONDO:0005090"	"schizophrenia"	"MONDO:0005090"	"schizophrenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10870"	"ST8SIA2"	"MONDO:0005090"	"schizophrenia (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5865"	"2021-09-28"
"GENCC_000101-HGNC_28423-OMIM_255995-HP_0000007-GENCC_100003"	"HGNC:28423"	"STAC3"	"MONDO:0009722"	"Bailey-Bloch congenital myopathy"	"OMIM:255995"	"Congenital myopathy 13"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28423"	"STAC3"	"OMIM:255995"	"Myopathy, congenital, Baily-Bloch"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-06 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"601963"	"2021-09-28"
"GENCC_000101-HGNC_11354-OMIM_617635-HP_0000006-GENCC_100003"	"HGNC:11354"	"STAG1"	"MONDO:0030912"	"intellectual disability, autosomal dominant 47"	"OMIM:617635"	"Intellectual developmental disorder, autosomal dominant 47"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11354"	"STAG1"	"OMIM:617635"	"Mental retardation, autosomal dominant 47"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-02 19:02:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82640"	"2021-09-28"
"GENCC_000101-HGNC_11355-OMIM_301022-HP_0001417-GENCC_100002"	"HGNC:11355"	"STAG2"	"MONDO:0026722"	"Mullegama-Klein-Martinez syndrome"	"OMIM:301022"	"Mullegama-Klein-Martinez syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11355"	"STAG2"	"OMIM:301022"	"Mullegama-Klein-Martinez syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-07-31 19:02:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82497"	"2021-09-28"
"GENCC_000101-HGNC_11367-OMIM_245590-HP_0000007-GENCC_100003"	"HGNC:11367"	"STAT5B"	"MONDO:0100211"	"growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	"OMIM:245590"	"Growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11367"	"STAT5B"	"OMIM:245590"	"Growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-13 19:02:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1444"	"2021-09-28"
"GENCC_000101-HGNC_28669-MONDO_0021003-HP_0000006-GENCC_100004"	"HGNC:28669"	"STKLD1"	"MONDO:0021003"	"polydactyly"	"MONDO:0021003"	"polydactyly"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28669"	"STKLD1"	"MONDO:0021003"	"polydactyly (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-04-19 19:02:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"813091"	"2021-09-28"
"GENCC_000101-HGNC_6172-OMIM_615596-HP_0000007-GENCC_100003"	"HGNC:6172"	"STT3A"	"MONDO:0014270"	"STT3A-congenital disorder of glycosylation"	"OMIM:615596"	"Congenital disorder of glycosylation, type Iw, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6172"	"STT3A"	"OMIM:615596"	"Congenital disorder of glycosylation, type Iw"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-28 19:02:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"9429"	"2021-09-28"
"GENCC_000101-HGNC_30611-OMIM_615597-HP_0000007-GENCC_100004"	"HGNC:30611"	"STT3B"	"MONDO:0014271"	"STT3B-congenital disorder of glycosylation"	"OMIM:615597"	"Congenital disorder of glycosylation, type Ix"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30611"	"STT3B"	"OMIM:615597"	"Congenital disorder of glycosylation, type Ix"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"628737"	"2021-09-28"
"GENCC_000101-HGNC_11427-OMIM_615768-HP_0000007-GENCC_100002"	"HGNC:11427"	"STUB1"	"MONDO:0014339"	"autosomal recessive spinocerebellar ataxia 16"	"OMIM:615768"	"Spinocerebellar ataxia, autosomal recessive 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11427"	"STUB1"	"OMIM:615768"	"Spinocerebellar ataxia, autosomal recessive 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-02 19:02:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82649"	"2021-09-28"
"GENCC_000101-HGNC_11427-OMIM_618093-HP_0000006-GENCC_100002"	"HGNC:11427"	"STUB1"	"MONDO:0032526"	"spinocerebellar ataxia 48"	"OMIM:618093"	"Spinocerebellar ataxia 48"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11427"	"STUB1"	"OMIM:618093"	"Spinocerebellar ataxia 48"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-03-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14283"	"2023-08-19"
"GENCC_000101-HGNC_3403-MONDO_0004983-HP_0000007-GENCC_100004"	"HGNC:3403"	"STX2"	"MONDO:0004983"	"spermatogenic failure"	"MONDO:0004983"	"spermatogenic failure"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3403"	"STX2"	"MONDO:0004983"	"azoospermia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-30 19:02:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6270"	"2021-09-28"
"GENCC_000101-HGNC_11438-MONDO_0009635-HP_0000007-GENCC_100003"	"HGNC:11438"	"STX3"	"MONDO:0009635"	"microvillus inclusion disease"	"MONDO:0009635"	"microvillus inclusion disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11438"	"STX3"	"MONDO:0009635"	"microvillus inclusion disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-04 19:02:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1523"	"2021-09-28"
"GENCC_000101-HGNC_11444-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:11444"	"STXBP1"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11444"	"STXBP1"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"15869"	"2021-09-28"
"GENCC_000101-HGNC_11444-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:11444"	"STXBP1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11444"	"STXBP1"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-03 19:02:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"15868"	"2021-09-28"
"GENCC_000101-HGNC_11444-OMIM_612164-HP_0000007-GENCC_100001"	"HGNC:11444"	"STXBP1"	"MONDO:0012812"	"developmental and epileptic encephalopathy, 4"	"OMIM:612164"	"Developmental and epileptic encephalopathy 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11444"	"STXBP1"	"OMIM:612164"	"Developmental and epileptic encephalopathy 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-07-30 19:02:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"15867"	"2021-09-28"
"GENCC_000101-HGNC_11445-OMIM_613101-HP_0000007-GENCC_100001"	"HGNC:11445"	"STXBP2"	"MONDO:0013135"	"familial hemophagocytic lymphohistiocytosis 5"	"OMIM:613101"	"Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11445"	"STXBP2"	"OMIM:613101"	"Hemophagocytic lymphohistiocytosis, familial, 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-04 19:02:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1589"	"2021-09-28"
"GENCC_000101-HGNC_11445-MONDO_0009635-HP_0000007-GENCC_100004"	"HGNC:11445"	"STXBP2"	"MONDO:0009635"	"microvillus inclusion disease"	"MONDO:0009635"	"microvillus inclusion disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11445"	"STXBP2"	"MONDO:0009635"	"microvillus inclusion disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-04 19:02:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"15897"	"2021-09-28"
"GENCC_000101-HGNC_1240-MONDO_0005115-HP_0000006-GENCC_100004"	"HGNC:1240"	"SUCO"	"MONDO:0005115"	"temporal lobe epilepsy"	"MONDO:0005115"	"temporal lobe epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1240"	"SUCO"	"MONDO:0005115"	"temportal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78092"	"2021-09-28"
"GENCC_000101-HGNC_16466-MONDO_0000665-HP_0000006-GENCC_100004"	"HGNC:16466"	"SUFU"	"MONDO:0000665"	"apraxia"	"MONDO:0000665"	"apraxia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16466"	"SUFU"	"MONDO:0000665"	"apraxia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-15 19:02:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78150"	"2021-09-28"
"GENCC_000101-HGNC_16466-OMIM_617757-HP_0000007-GENCC_100004"	"HGNC:16466"	"SUFU"	"MONDO:0033309"	"Joubert syndrome 32"	"OMIM:617757"	"Joubert syndrome 32"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16466"	"SUFU"	"OMIM:617757"	"Joubert syndrome 32"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13383"	"2023-08-19"
"GENCC_000101-HGNC_16466-OMIM_155255-HP_0000006-GENCC_100002"	"HGNC:16466"	"SUFU"	"MONDO:0007959"	"medulloblastoma"	"OMIM:155255"	"{Medulloblastoma}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16466"	"SUFU"	"OMIM:155255"	"Medulloblastoma, desmoplastic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2017-08-05 19:02:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"781508"	"2021-09-28"
"GENCC_000101-HGNC_11459-OMIM_617571-HP_0000007-GENCC_100004"	"HGNC:11459"	"SULT2B1"	"MONDO:0033091"	"ichthyosis, congenital, autosomal recessive 14"	"OMIM:617571"	"Ichthyosis, congenital, autosomal recessive 14"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11459"	"SULT2B1"	"OMIM:617571"	"Ichthyosis, congenital, autosomal recessive 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-12-28 19:02:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1562"	"2021-09-28"
"GENCC_000101-HGNC_11460-OMIM_272300-HP_0000007-GENCC_100002"	"HGNC:11460"	"SUOX"	"MONDO:0010089"	"isolated sulfite oxidase deficiency"	"OMIM:272300"	"Sulfite oxidase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11460"	"SUOX"	"OMIM:272300"	"Sulfite oxidase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:02:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1568"	"2021-09-28"
"GENCC_000101-HGNC_11465-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:11465"	"SUPT16H"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11465"	"SUPT16H"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11359"	"2023-08-19"
"GENCC_000101-HGNC_17101-OMIM_618786-HP_0000006-GENCC_100003"	"HGNC:17101"	"SUZ12"	"MONDO:0032916"	"Imagawa-Matsumoto syndrome"	"OMIM:618786"	"Imagawa-Matsumoto syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17101"	"SUZ12"	"OMIM:618786"	"Imagawa-Matsumoto syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-02 19:02:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69786"	"2021-09-28"
"GENCC_000101-HGNC_25841-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:25841"	"SYDE2"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25841"	"SYDE2"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50800"	"2021-09-28"
"GENCC_000101-HGNC_11494-OMIM_300491-HP_0001417-GENCC_100003"	"HGNC:11494"	"SYN1"	"MONDO:0010339"	"epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	"OMIM:300491"	"Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11494"	"SYN1"	"OMIM:300491"	"Epilepsy, X-linked, with variable learning disabilities and behavior disorders"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1579"	"2021-09-28"
"GENCC_000101-HGNC_17089-OMIM_612998-HP_0000006-GENCC_100003"	"HGNC:17089"	"SYNE1"	"MONDO:0013071"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"OMIM:612998"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17089"	"SYNE1"	"OMIM:612998"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-01-17 19:02:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69907"	"2021-09-28"
"GENCC_000101-HGNC_17089-OMIM_610743-HP_0000007-GENCC_100001"	"HGNC:17089"	"SYNE1"	"MONDO:0012549"	"autosomal recessive ataxia, Beauce type"	"OMIM:610743"	"Spinocerebellar ataxia, autosomal recessive 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17089"	"SYNE1"	"OMIM:610743"	"Spinocerebellar ataxia, autosomal recessive 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-07-17 19:02:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"699078"	"2021-09-28"
"GENCC_000101-HGNC_17084-OMIM_612999-HP_0000006-GENCC_100004"	"HGNC:17084"	"SYNE2"	"MONDO:0013072"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"OMIM:612999"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17084"	"SYNE2"	"OMIM:612999"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-07 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74407"	"2024-01-02"
"GENCC_000101-HGNC_17084-Orphanet_54260-HP_0000006-GENCC_100004"	"HGNC:17084"	"SYNE2"	"MONDO:0018901"	"left ventricular noncompaction"	"Orphanet:54260"	"Orphanet:54260"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17084"	"SYNE2"	"Orphanet:54260"	"Left ventricular noncompaction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-11-13 19:02:46"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"696608"	"2021-09-28"
"GENCC_000101-HGNC_11498-MONDO_0004985-HP_0000006-GENCC_100004"	"HGNC:11498"	"SYNGR1"	"MONDO:0004985"	"bipolar disorder"	"MONDO:0004985"	"bipolar disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11498"	"SYNGR1"	"MONDO:0004985"	"Bipolar disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3807"	"2021-09-28"
"GENCC_000101-HGNC_11503-OMIM_617389-HP_0000007-GENCC_100003"	"HGNC:11503"	"SYNJ1"	"MONDO:0033362"	"developmental and epileptic encephalopathy, 53"	"OMIM:617389"	"Developmental and epileptic encephalopathy 53"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11503"	"SYNJ1"	"OMIM:617389"	"Developmental and epileptic encephalopathy 53"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-19 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18614"	"2024-01-02"
"GENCC_000101-HGNC_11506-OMIM_300802-HP_0001417-GENCC_100004"	"HGNC:11506"	"SYP"	"MONDO:0010429"	"intellectual disability, X-linked 96"	"OMIM:300802"	"Intellectual developmental disorder, X-linked 96"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11506"	"SYP"	"OMIM:300802"	"Intellectual developmental disorder, X-linked 96"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-18 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64549"	"2025-01-17"
"GENCC_000101-HGNC_11509-OMIM_618218-HP_0000006-GENCC_100003"	"HGNC:11509"	"SYT1"	"MONDO:0033864"	"infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"	"OMIM:618218"	"Baker-Gordon syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11509"	"SYT1"	"OMIM:618218"	"Baker-Gordon syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-21 19:02:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1574"	"2021-09-28"
"GENCC_000101-HGNC_15588-MONDO_0005283-HP_0001417-GENCC_100004"	"HGNC:15588"	"SYTL4"	"MONDO:0005283"	"retinal disorder"	"MONDO:0005283"	"retinal disorder"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15588"	"SYTL4"	"MONDO:0005283"	"RETINAL DISEASE"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-16 19:02:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"30868"	"2021-09-28"
"GENCC_000101-HGNC_29040-OMIM_615476-HP_0000007-GENCC_100002"	"HGNC:29040"	"SZT2"	"MONDO:0014201"	"developmental and epileptic encephalopathy, 18"	"OMIM:615476"	"Developmental and epileptic encephalopathy 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29040"	"SZT2"	"OMIM:615476"	"Developmental and epileptic encephalopathy 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-31 19:02:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69990"	"2021-09-28"
"GENCC_000101-HGNC_25402-MONDO_0019042-HP_0001417-GENCC_100003"	"HGNC:25402"	"OTUD5"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25402"	"OTUD5"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-03-26 19:02:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"55593"	"2021-09-28"
"GENCC_000101-HGNC_21711-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:21711"	"ZNF804A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21711"	"ZNF804A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"38476"	"2021-09-28"
"GENCC_000101-HGNC_12872-MONDO_0009072-HP_0000006-GENCC_100004"	"HGNC:12872"	"ZIC1"	"MONDO:0009072"	"Dandy-Walker syndrome"	"MONDO:0009072"	"Dandy-Walker syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12872"	"ZIC1"	"MONDO:0009072"	"Dandy-Walker malformation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4707"	"2021-09-28"
"GENCC_000101-HGNC_24316-OMIM_619052-HP_0000007-GENCC_100003"	"HGNC:24316"	"TACO1"	"MONDO:0033638"	"mitochondrial complex 4 deficiency, nuclear type 8"	"OMIM:619052"	"Mitochondrial complex IV deficiency, nuclear type 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24316"	"TACO1"	"OMIM:619052"	"Mitochondrial complex IV deficiency, nuclear type 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-05-29 19:02:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78620"	"2021-09-28"
"GENCC_000101-HGNC_11546-OMIM_617432-HP_0000007-GENCC_100004"	"HGNC:11546"	"TAF13"	"MONDO:0044313"	"intellectual disability, autosomal recessive 60"	"OMIM:617432"	"Intellectual developmental disorder, autosomal recessive 60"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11546"	"TAF13"	"OMIM:617432"	"Mental retardation, autosomal recessive 60"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-14 19:02:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1550"	"2021-09-28"
"GENCC_000101-HGNC_11534-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:11534"	"TAF1C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11534"	"TAF1C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-21 19:02:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3289"	"2021-09-28"
"GENCC_000101-HGNC_11536-OMIM_615599-HP_0000007-GENCC_100003"	"HGNC:11536"	"TAF2"	"MONDO:0014273"	"microcephaly-thin corpus callosum-intellectual disability syndrome"	"OMIM:615599"	"Intellectual developmental disorder, autosomal recessive 40"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11536"	"TAF2"	"OMIM:615599"	"Mental retardation, autosomal recessive 40"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:02:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1549"	"2021-09-28"
"GENCC_000101-HGNC_11559-OMIM_606003-HP_0000007-GENCC_100003"	"HGNC:11559"	"TALDO1"	"MONDO:0011624"	"transaldolase deficiency"	"OMIM:606003"	"Transaldolase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11559"	"TALDO1"	"OMIM:606003"	"Transaldolase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-09 19:02:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1555"	"2021-09-28"
"GENCC_000101-HGNC_30212-OMIM_618906-HP_0000006-GENCC_100003"	"HGNC:30212"	"TANC2"	"MONDO:0030051"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"OMIM:618906"	"Intellectual developmental disorder with autistic features and language delay, with or without seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30212"	"TANC2"	"OMIM:618906"	"Intellectual developmental disorder with autistic features and language delay, with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-11-12 19:02:50"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"61887"	"2021-09-28"
"GENCC_000101-HGNC_25439-OMIM_616878-HP_0000007-GENCC_100003"	"HGNC:25439"	"TANGO2"	"MONDO:0014812"	"metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration"	"OMIM:616878"	"Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25439"	"TANGO2"	"OMIM:616878"	"Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-27 19:02:50"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"865353"	"2021-09-28"
"GENCC_000101-HGNC_29259-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:29259"	"TAOK1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29259"	"TAOK1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-28 19:02:50"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74778"	"2021-09-28"
"GENCC_000101-HGNC_16835-MONDO_0021094-HP_0000007-GENCC_100004"	"HGNC:16835"	"TAOK2"	"MONDO:0021094"	"immunodeficiency disease"	"MONDO:0021094"	"immunodeficiency disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16835"	"TAOK2"	"MONDO:0021094"	"immunodeficiency disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-26 19:02:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3900"	"2021-09-28"
"GENCC_000101-HGNC_16835-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:16835"	"TAOK2"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16835"	"TAOK2"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-18 19:02:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"39001"	"2021-09-28"
"GENCC_000101-HGNC_15859-OMIM_618950-HP_0000007-GENCC_100003"	"HGNC:15859"	"TASP1"	"MONDO:0033532"	"Suleiman-El-Hattab syndrome"	"OMIM:618950"	"Suleiman-El-Hattab syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15859"	"TASP1"	"OMIM:618950"	"Suleiman-El-Hattab syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-06-19 19:02:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77184"	"2021-09-28"
"GENCC_000101-HGNC_16133-OMIM_615663-HP_0000007-GENCC_100003"	"HGNC:16133"	"TBC1D20"	"MONDO:0014296"	"Warburg micro syndrome 4"	"OMIM:615663"	"Warburg micro syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16133"	"TBC1D20"	"OMIM:615663"	"Warburg micro syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-09 19:02:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"865194"	"2021-09-28"
"GENCC_000101-HGNC_29203-OMIM_220500-HP_0000007-GENCC_100002"	"HGNC:29203"	"TBC1D24"	"MONDO:0009079"	"DOORS syndrome"	"OMIM:220500"	"DOORS syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29203"	"TBC1D24"	"OMIM:220500"	"DOORS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2016-09-21 19:02:52"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74017"	"2021-09-28"
"GENCC_000101-HGNC_29203-OMIM_614617-HP_0000007-GENCC_100004"	"HGNC:29203"	"TBC1D24"	"MONDO:0013826"	"autosomal recessive nonsyndromic hearing loss 86"	"OMIM:614617"	"Deafness, autosomal recessive 86"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29203"	"TBC1D24"	"OMIM:614617"	"Deafness , autosomal recessive 86"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-22 19:02:52"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"740171"	"2021-09-28"
"GENCC_000101-HGNC_29203-OMIM_605021-HP_0000007-GENCC_100003"	"HGNC:29203"	"TBC1D24"	"MONDO:0011506"	"familial infantile myoclonic epilepsy"	"OMIM:605021"	"Myoclonic epilepsy, infantile, familial"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29203"	"TBC1D24"	"OMIM:605021"	"Myoclonic epilepsy, infantile, familial"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-09-21 19:02:52"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"740172"	"2021-09-28"
"GENCC_000101-HGNC_24715-OMIM_301028-HP_0001417-GENCC_100004"	"HGNC:24715"	"TBC1D8B"	"MONDO:0026726"	"nephrotic syndrome, type 20"	"OMIM:301028"	"Nephrotic syndrome, type 20"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24715"	"TBC1D8B"	"OMIM:301028"	"Nephrotic syndrome, type 20"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11410"	"2023-08-19"
"GENCC_000101-HGNC_11592-OMIM_192430-HP_0000006-GENCC_100002"	"HGNC:11592"	"TBX1"	"MONDO:0008644"	"velocardiofacial syndrome"	"OMIM:192430"	"Velocardiofacial syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11592"	"TBX1"	"OMIM:192430"	"Velocardiofacial syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-29 19:02:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1533"	"2021-09-28"
"GENCC_000101-HGNC_11592-OMIM_217095-HP_0000006-GENCC_100001"	"HGNC:11592"	"TBX1"	"MONDO:0016581"	"conotruncal heart malformations"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11592"	"TBX1"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-29 19:02:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"15331"	"2021-09-28"
"GENCC_000101-HGNC_11595-OMIM_143400-HP_0000006-GENCC_100003"	"HGNC:11595"	"TBX18"	"MONDO:0027676"	"congenital anomalies of kidney and urinary tract 2"	"OMIM:143400"	"Congenital anomalies of kidney and urinary tract 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11595"	"TBX18"	"OMIM:143400"	"Congenital anomalies of kidney and urinary tract 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-08-30 19:02:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3231"	"2021-09-28"
"GENCC_000101-HGNC_11597-OMIM_618223-HP_0000006-GENCC_100004"	"HGNC:11597"	"TBX2"	"MONDO:0032607"	"vertebral anomalies and variable endocrine and T-cell dysfunction"	"OMIM:618223"	"Vertebral anomalies and variable endocrine and T-cell dysfunction"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11597"	"TBX2"	"OMIM:618223"	"Vertebral anomalies and variable endocrine and T-cell dysfunction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"69956"	"2023-08-19"
"GENCC_000101-HGNC_11598-OMIM_611363-HP_0000006-GENCC_100002"	"HGNC:11598"	"TBX20"	"MONDO:0012654"	"atrial septal defect 4"	"OMIM:611363"	"Atrial septal defect 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11598"	"TBX20"	"OMIM:611363"	"Atrial septal defect 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-30 19:02:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74274"	"2021-09-28"
"GENCC_000101-HGNC_11604-OMIM_142900-HP_0000006-GENCC_100001"	"HGNC:11604"	"TBX5"	"MONDO:0007732"	"Holt-Oram syndrome"	"OMIM:142900"	"Holt-Oram syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11604"	"TBX5"	"OMIM:142900"	"Holt-Oram syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:02:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1382"	"2021-09-28"
"GENCC_000101-HGNC_11605-OMIM_122600-HP_0032113-GENCC_100003"	"HGNC:11605"	"TBX6"	"MONDO:0007389"	"spondylocostal dysostosis 5"	"OMIM:122600"	"Spondylocostal dysostosis 5"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11605"	"TBX6"	"OMIM:122600"	"Spondylocostal dysostosis 5"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-05-26 19:02:55"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1388"	"2021-09-28"
"GENCC_000101-HGNC_11605-MONDO_0019719-HP_0000006-GENCC_100004"	"HGNC:11605"	"TBX6"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11605"	"TBX6"	"MONDO:0019719"	"AD Congenital anomalies of kidney and urinary tract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-29 19:02:55"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"13881"	"2021-09-28"
"GENCC_000101-HGNC_11608-OMIM_614009-HP_0000006-GENCC_100003"	"HGNC:11608"	"TBXA2R"	"MONDO:0013524"	"bleeding diathesis due to thromboxane synthesis deficiency"	"OMIM:614009"	"{Bleeding disorder, platelet-type, 13, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11608"	"TBXA2R"	"OMIM:614009"	"Bleeding disorder, platelet-type, 13, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 19:02:55"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1387"	"2021-09-28"
"GENCC_000101-HGNC_11610-OMIM_607487-HP_0000006-GENCC_100003"	"HGNC:11610"	"TCAP"	"MONDO:0011843"	"hypertrophic cardiomyopathy 25"	"OMIM:607487"	"Cardiomyopathy, hypertrophic, 25"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11610"	"TCAP"	"OMIM:607487"	"Cardiomyopathy, hypertrophic, 25"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-30 19:02:55"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5774"	"2021-09-28"
"GENCC_000101-HGNC_11634-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:11634"	"TCF4"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11634"	"TCF4"	"MONDO:0001071"	"Intellectual disability, nonsyndromic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-22 19:02:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1367"	"2021-09-28"
"GENCC_000101-HGNC_11634-OMIM_610954-HP_0000006-GENCC_100001"	"HGNC:11634"	"TCF4"	"MONDO:0012589"	"Pitt-Hopkins syndrome"	"OMIM:610954"	"Pitt-Hopkins syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11634"	"TCF4"	"OMIM:610954"	"Pitt-Hopkins syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-03-22 19:02:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"13671"	"2021-09-28"
"GENCC_000101-HGNC_11634-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:11634"	"TCF4"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11634"	"TCF4"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-22 19:02:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"13672"	"2021-09-28"
"GENCC_000101-HGNC_11641-MONDO_0020366-HP_0000005-GENCC_100004"	"HGNC:11641"	"TCF7L2"	"MONDO:0020366"	"congenital glaucoma"	"MONDO:0020366"	"congenital glaucoma"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11641"	"TCF7L2"	"MONDO:0020366"	"congenital glaucoma"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1390"	"2021-09-28"
"GENCC_000101-HGNC_11641-MONDO_0001071-HP_0000006-GENCC_100003"	"HGNC:11641"	"TCF7L2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11641"	"TCF7L2"	"MONDO:0001071"	"AD Intellectual disability, language delay, behavioral problems, and facial dysmorphisms"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-07 19:02:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"13901"	"2021-09-28"
"GENCC_000101-HGNC_25774-OMIM_616654-HP_0000007-GENCC_100003"	"HGNC:25774"	"TCTN2"	"MONDO:0014724"	"Joubert syndrome 24"	"OMIM:616654"	"Joubert syndrome 24"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25774"	"TCTN2"	"OMIM:616654"	"Joubert syndrome 24"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-23 19:02:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43514"	"2021-09-28"
"GENCC_000101-HGNC_21339-MONDO_0005090-HP_0000006-GENCC_100004"	"HGNC:21339"	"TDRD6"	"MONDO:0005090"	"schizophrenia"	"MONDO:0005090"	"schizophrenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21339"	"TDRD6"	"MONDO:0005090"	"schizophrenia (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-26 19:02:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"668022"	"2021-09-28"
"GENCC_000101-HGNC_21339-MONDO_0001913-HP_0000007-GENCC_100004"	"HGNC:21339"	"TDRD6"	"MONDO:0001913"	"oligospermia"	"MONDO:0001913"	"oligospermia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21339"	"TDRD6"	"MONDO:0001913"	"oligospermia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-26 19:02:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6680221"	"2021-09-28"
"GENCC_000101-HGNC_20122-OMIM_618110-HP_0000007-GENCC_100004"	"HGNC:20122"	"TDRD9"	"MONDO:0020851"	"spermatogenic failure 30"	"OMIM:618110"	"?Spermatogenic failure 30"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20122"	"TDRD9"	"OMIM:618110"	"Spermatogenic failure 30"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-07 19:02:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"866026"	"2021-09-28"
"GENCC_000101-HGNC_11714-OMIM_108985-HP_0000006-GENCC_100002"	"HGNC:11714"	"TEAD1"	"MONDO:0007176"	"helicoid peripapillary chorioretinal degeneration"	"OMIM:108985"	"Sveinsson chorioretinal atrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11714"	"TEAD1"	"OMIM:108985"	"Sveinsson chorioretinal atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:02:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4229"	"2021-09-28"
"GENCC_000101-HGNC_11714-MONDO_0010568-HP_0000006-GENCC_100004"	"HGNC:11714"	"TEAD1"	"MONDO:0010568"	"Aicardi syndrome"	"MONDO:0010568"	"Aicardi syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11714"	"TEAD1"	"MONDO:0010568"	"Aicardi Syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-23 19:02:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"42291"	"2021-09-28"
"GENCC_000101-HGNC_4551-OMIM_614020-HP_0000007-GENCC_100004"	"HGNC:4551"	"TECR"	"MONDO:0013528"	"intellectual disability, autosomal recessive 14"	"OMIM:614020"	"Intellectual developmental disorder, autosomal recessive 14"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4551"	"TECR"	"OMIM:614020"	"Mental retardation, autosomal recessive 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3760"	"2021-09-28"
"GENCC_000101-HGNC_27365-OMIM_614021-HP_0000007-GENCC_100004"	"HGNC:27365"	"TECRL"	"MONDO:0013529"	"catecholaminergic polymorphic ventricular tachycardia 3"	"OMIM:614021"	"Ventricular tachycardia, catecholaminergic polymorphic, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27365"	"TECRL"	"OMIM:614021"	"Ventricular tachycardia, catecholaminergic polymorphic, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"679284"	"2021-09-28"
"GENCC_000101-HGNC_8117-MONDO_0006497-HP_0001417-GENCC_100004"	"HGNC:8117"	"TENM1"	"MONDO:0006497"	"cerebral palsy"	"MONDO:0006497"	"cerebral palsy"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8117"	"TENM1"	"MONDO:0006497"	"Cerebral palsy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:02:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82845"	"2021-09-28"
"GENCC_000101-HGNC_8117-MONDO_0010528-HP_0001417-GENCC_100004"	"HGNC:8117"	"TENM1"	"MONDO:0010528"	"anosmia"	"MONDO:0010528"	"anosmia"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8117"	"TENM1"	"MONDO:0010528"	"congenital general anosmia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:02:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"828451"	"2021-09-28"
"GENCC_000101-HGNC_11733-OMIM_309120-HP_0001417-GENCC_100003"	"HGNC:11733"	"TEX11"	"MONDO:0010647"	"spermatogenic failure, X-linked, 2"	"OMIM:309120"	"Spermatogenic failure, X-linked 2"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11733"	"TEX11"	"OMIM:309120"	"Spermatogenic failure, X-linked, 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-04-17 19:03:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"71873"	"2021-09-28"
"GENCC_000101-HGNC_11741-OMIM_617156-HP_0000007-GENCC_100004"	"HGNC:11741"	"TFAM"	"MONDO:0014943"	"mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"	"OMIM:617156"	"?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11741"	"TFAM"	"OMIM:617156"	"Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4283"	"2021-09-28"
"GENCC_000101-HGNC_11752-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:11752"	"TFE3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11752"	"TFE3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-05-22 19:03:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4292"	"2021-09-28"
"GENCC_000101-HGNC_11762-OMIM_604250-HP_0000007-GENCC_100001"	"HGNC:11762"	"TFR2"	"MONDO:0011417"	"hemochromatosis type 3"	"OMIM:604250"	"Hemochromatosis, type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11762"	"TFR2"	"OMIM:604250"	"Hemochromatosis, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-25 19:03:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4291"	"2021-09-28"
"GENCC_000101-HGNC_11766-OMIM_131300-HP_0000006-GENCC_100001"	"HGNC:11766"	"TGFB1"	"MONDO:0007542"	"Camurati-Engelmann disease"	"OMIM:131300"	"Camurati-Engelmann disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11766"	"TGFB1"	"OMIM:131300"	"Camurati-Engelmann disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-01-10 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1327"	"2025-01-17"
"GENCC_000101-HGNC_11766-OMIM_618213-HP_0000007-GENCC_100004"	"HGNC:11766"	"TGFB1"	"MONDO:0032601"	"inflammatory bowel disease, immunodeficiency, and encephalopathy"	"OMIM:618213"	"Inflammatory bowel disease, immunodeficiency, and encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11766"	"TGFB1"	"OMIM:618213"	"Inflammatory bowel disease, immunodeficiency, and encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-09 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11725"	"2025-01-17"
"GENCC_000101-HGNC_11769-OMIM_107970-HP_0000006-GENCC_100004"	"HGNC:11769"	"TGFB3"	"MONDO:0007152"	"arrhythmogenic right ventricular dysplasia 1"	"OMIM:107970"	"Arrhythmogenic right ventricular dysplasia 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11769"	"TGFB3"	"OMIM:107970"	"Arrhythmogenic right ventricular dysplasia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2016-08-05 19:03:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4209"	"2021-09-28"
"GENCC_000101-HGNC_11769-OMIM_615582-HP_0000006-GENCC_100003"	"HGNC:11769"	"TGFB3"	"MONDO:0014262"	"Rienhoff syndrome"	"OMIM:615582"	"Loeys-Dietz syndrome 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11769"	"TGFB3"	"OMIM:615582"	"Loeys-Dietz syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-19 19:03:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"42091"	"2021-09-28"
"GENCC_000101-HGNC_11769-MONDO_0018954-HP_0000007-GENCC_100004"	"HGNC:11769"	"TGFB3"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11769"	"TGFB3"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-02-21 19:03:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4209"	"2021-09-28"
"GENCC_000101-HGNC_11772-OMIM_609192-HP_0000006-GENCC_100002"	"HGNC:11772"	"TGFBR1"	"MONDO:0012212"	"Loeys-Dietz syndrome 1"	"OMIM:609192"	"Loeys-Dietz syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11772"	"TGFBR1"	"OMIM:609192"	"Loeys-Dietz syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-19 19:03:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4201"	"2021-09-28"
"GENCC_000101-HGNC_11778-MONDO_0005148-HP_0000006-GENCC_100004"	"HGNC:11778"	"TGM2"	"MONDO:0005148"	"type 2 diabetes mellitus"	"MONDO:0005148"	"type 2 diabetes mellitus"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11778"	"TGM2"	"MONDO:0005148"	"Diabetes, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4276"	"2021-09-28"
"GENCC_000101-HGNC_16255-OMIM_613908-HP_0000006-GENCC_100003"	"HGNC:16255"	"TGM6"	"MONDO:0013485"	"spinocerebellar ataxia type 35"	"OMIM:613908"	"Spinocerebellar ataxia 35"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16255"	"TGM6"	"OMIM:613908"	"Spinocerebellar ataxia 35"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-18 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67747"	"2025-01-17"
"GENCC_000101-HGNC_26053-OMIM_618800-HP_0000006-GENCC_100003"	"HGNC:26053"	"THG1L"	"MONDO:0032923"	"spinocerebellar ataxia, autosomal recessive 28"	"OMIM:618800"	"Spinocerebellar ataxia, autosomal recessive 28"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26053"	"THG1L"	"OMIM:618800"	"Spinocerebellar ataxia, autosomal recessive 28"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-26 19:03:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70340"	"2021-09-28"
"GENCC_000101-HGNC_19070-MONDO_0020678-HP_0000006-GENCC_100004"	"HGNC:19070"	"THOC1"	"MONDO:0020678"	"sensorineural hearing loss disorder"	"MONDO:0020678"	"sensorineural hearing loss disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19070"	"THOC1"	"MONDO:0020678"	"THOC1-related hearing loss"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-14 19:03:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3350"	"2021-09-28"
"GENCC_000101-HGNC_19073-OMIM_300957-HP_0001417-GENCC_100003"	"HGNC:19073"	"THOC2"	"MONDO:0010496"	"X-linked intellectual disability-short stature-overweight syndrome"	"OMIM:300957"	"Intellectual developmental disorder, X-linked syndromic, Kumar type"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19073"	"THOC2"	"OMIM:300957"	"Mental retardation, X-linked 12/35"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-13 19:03:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74854"	"2021-09-28"
"GENCC_000101-HGNC_28369-OMIM_613680-HP_0000007-GENCC_100003"	"HGNC:28369"	"THOC6"	"MONDO:0013362"	"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	"OMIM:613680"	"Beaulieu-Boycott-Innes syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28369"	"THOC6"	"OMIM:613680"	"Beaulieu-Boycott-Innes syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-30 19:03:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43665"	"2021-09-28"
"GENCC_000101-HGNC_17754-OMIM_618734-HP_0000006-GENCC_100004"	"HGNC:17754"	"THSD1"	"MONDO:0032891"	"aneurysm, intracranial berry, 12"	"OMIM:618734"	"?Aneurysm, intracranial berry, 12"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17754"	"THSD1"	"OMIM:618734"	"Aneurysm, intracranial berry, 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-05 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17750"	"2024-01-02"
"GENCC_000101-HGNC_17754-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:17754"	"THSD1"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17754"	"THSD1"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-06 19:03:04"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"773281"	"2021-09-28"
"GENCC_000101-HGNC_25835-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:25835"	"THSD4"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25835"	"THSD4"	"MONDO:0019625"	"THSD4-related thoracic aortic aneurysm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-09-04 19:03:04"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43547"	"2021-09-28"
"GENCC_000101-HGNC_18348-OMIM_614850-HP_0032113-GENCC_100004"	"HGNC:18348"	"TICAM1"	"MONDO:0013921"	"herpes simplex encephalitis, susceptibility to, 4"	"OMIM:614850"	"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18348"	"TICAM1"	"OMIM:614850"	"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:04"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"805266"	"2021-09-28"
"GENCC_000101-HGNC_17317-OMIM_618851-HP_0000007-GENCC_100004"	"HGNC:17317"	"TIMM22"	"MONDO:0030017"	"combined oxidative phosphorylation deficiency 43"	"OMIM:618851"	"?Combined oxidative phosphorylation deficiency 43"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17317"	"TIMM22"	"OMIM:618851"	"Combined oxidative phosphorylation deficiency 43"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-12-13 19:03:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"63365"	"2021-09-28"
"GENCC_000101-HGNC_17316-MONDO_0002108-HP_0000006-GENCC_100004"	"HGNC:17316"	"TIMM44"	"MONDO:0002108"	"thyroid cancer"	"MONDO:0002108"	"thyroid cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17316"	"TIMM44"	"MONDO:0002108"	"Thyroid cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82013"	"2021-09-28"
"GENCC_000101-HGNC_23656-OMIM_617698-HP_0000007-GENCC_100003"	"HGNC:23656"	"TIMM50"	"MONDO:0044724"	"3-methylglutaconic aciduria type 9"	"OMIM:617698"	"3-methylglutaconic aciduria, type IX"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23656"	"TIMM50"	"OMIM:617698"	"3-methylglutaconic aciduria, type IX"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-19 19:03:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"36123"	"2021-09-28"
"GENCC_000101-HGNC_11817-OMIM_304700-HP_0001417-GENCC_100002"	"HGNC:11817"	"TIMM8A"	"MONDO:0010578"	"deafness dystonia syndrome"	"OMIM:304700"	"Mohr-Tranebjaerg syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11817"	"TIMM8A"	"OMIM:304700"	"Mohr-Tranebjaerg syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:03:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8145"	"2021-09-28"
"GENCC_000101-HGNC_11824-OMIM_613990-HP_0000006-GENCC_100002"	"HGNC:11824"	"TINF2"	"MONDO:0013522"	"dyskeratosis congenita, autosomal dominant 3"	"OMIM:613990"	"Dyskeratosis congenita, autosomal dominant 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11824"	"TINF2"	"OMIM:613990"	"Dyskeratosis congenita, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-12-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61448"	"2023-08-19"
"GENCC_000101-HGNC_11824-MONDO_0002771-HP_0000006-GENCC_100003"	"HGNC:11824"	"TINF2"	"MONDO:0002771"	"pulmonary fibrosis"	"MONDO:0002771"	"pulmonary fibrosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11824"	"TINF2"	"MONDO:0002771"	"Pulmonary fibrosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-05-31 19:03:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"616441"	"2021-09-28"
"GENCC_000101-HGNC_11824-MONDO_0005075-HP_0000006-GENCC_100004"	"HGNC:11824"	"TINF2"	"MONDO:0005075"	"thyroid gland papillary carcinoma"	"MONDO:0005075"	"thyroid gland papillary carcinoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11824"	"TINF2"	"MONDO:0005075"	"thyroid gland papillary carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-01-21 19:03:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"616442"	"2021-09-28"
"GENCC_000101-HGNC_11828-OMIM_615878-HP_0000007-GENCC_100002"	"HGNC:11828"	"TJP2"	"MONDO:0014381"	"cholestasis, progressive familial intrahepatic, 4"	"OMIM:615878"	"Cholestasis, progressive familial intrahepatic 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11828"	"TJP2"	"OMIM:615878"	"Cholestasis, progressive familial intrahepatic 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-10-28 19:03:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3080"	"2021-09-28"
"GENCC_000101-HGNC_11828-MONDO_0019587-HP_0000006-GENCC_100004"	"HGNC:11828"	"TJP2"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11828"	"TJP2"	"MONDO:0019587"	"autosomal dominant nonsyndromic deafness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-10-28 19:03:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"30802"	"2021-09-28"
"GENCC_000101-HGNC_24552-OMIM_618805-HP_0000007-GENCC_100004"	"HGNC:24552"	"TKFC"	"MONDO:0032927"	"triokinase and FMN cyclase deficiency syndrome"	"OMIM:618805"	"Triokinase and FMN cyclase deficiency syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24552"	"TKFC"	"OMIM:618805"	"Triokinase and FMN cyclase deficiency syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-31 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42792"	"2025-01-17"
"GENCC_000101-HGNC_11837-MONDO_0005395-HP_0000007-GENCC_100004"	"HGNC:11837"	"TLE1"	"MONDO:0005395"	"movement disorder"	"MONDO:0005395"	"movement disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11837"	"TLE1"	"MONDO:0005395"	"movement disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-24 19:03:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4255"	"2021-09-28"
"GENCC_000101-HGNC_30788-OMIM_616814-HP_0000007-GENCC_100004"	"HGNC:30788"	"TLE6"	"MONDO:0014783"	"preimplantation embryonic lethality 1"	"OMIM:616814"	"Oocyte/zygote/embryo maturation arrest 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30788"	"TLE6"	"OMIM:616814"	"Preimplantation embryonic lethality"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43581"	"2021-09-28"
"GENCC_000101-HGNC_11842-OMIM_618050-HP_0000006-GENCC_100001"	"HGNC:11842"	"TLK2"	"MONDO:0054837"	"intellectual disability, autosomal dominant 57"	"OMIM:618050"	"Intellectual developmental disorder, autosomal dominant 57"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11842"	"TLK2"	"OMIM:618050"	"Mental retardation, autosomal dominant 57"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-31 19:03:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88288"	"2021-09-28"
"GENCC_000101-HGNC_15447-MONDO_0007250-HP_0000006-GENCC_100004"	"HGNC:15447"	"TLN2"	"MONDO:0007250"	"camptodactyly of fingers"	"MONDO:0007250"	"camptodactyly of fingers"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15447"	"TLN2"	"MONDO:0007250"	" Camptodactyly of fingers"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:10"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"59112"	"2021-09-28"
"GENCC_000101-HGNC_30797-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:30797"	"TM9SF4"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30797"	"TM9SF4"	"MONDO:0005258"	"AUTISM SPECTRUM DISORDER"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-03 19:03:10"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3444"	"2021-09-28"
"GENCC_000101-HGNC_16513-MONDO_0019497-HP_0032113-GENCC_100002"	"HGNC:16513"	"TMC1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16513"	"TMC1"	"MONDO:0019497"	"nonsyndromic genetic deafness"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-03-14 19:03:10"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"884798"	"2021-09-28"
"GENCC_000101-HGNC_20329-MONDO_0005321-HP_0000006-GENCC_100004"	"HGNC:20329"	"TMCO3"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20329"	"TMCO3"	"MONDO:0005321"	"Cornea Guttata and Anterior Polar Cataract (first signs of Fuchs’ corneal dystrophy)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:10"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77226"	"2021-09-28"
"GENCC_000101-HGNC_24253-MONDO_0005283-HP_0000007-GENCC_100004"	"HGNC:24253"	"TMED7"	"MONDO:0005283"	"retinal disorder"	"MONDO:0005283"	"retinal disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24253"	"TMED7"	"MONDO:0005283"	"AR Retinal Disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-15 19:03:10"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78280"	"2021-09-28"
"GENCC_000101-HGNC_22407-OMIM_617964-HP_0000006-GENCC_100004"	"HGNC:22407"	"TMEM106B"	"MONDO:0054791"	"leukodystrophy, hypomyelinating, 16"	"OMIM:617964"	"Leukodystrophy, hypomyelinating, 16"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22407"	"TMEM106B"	"OMIM:617964"	"Leukodystrophy, hypomyelinating, 16"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-31 19:03:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70110"	"2021-09-28"
"GENCC_000101-HGNC_28128-MONDO_0005308-HP_0000007-GENCC_100003"	"HGNC:28128"	"TMEM107"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28128"	"TMEM107"	"MONDO:0005308"	"Ciliopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-03-27 19:03:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50980"	"2021-09-28"
"GENCC_000101-HGNC_25382-OMIM_612989-HP_0000007-GENCC_100004"	"HGNC:25382"	"TMEM126A"	"MONDO:0013069"	"autosomal recessive optic atrophy, OPA7 type"	"OMIM:612989"	"Optic atrophy 7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25382"	"TMEM126A"	"OMIM:612989"	"Optic atrophy 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-04-19 19:03:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50699"	"2021-09-28"
"GENCC_000101-HGNC_30883-OMIM_618250-HP_0000007-GENCC_100003"	"HGNC:30883"	"TMEM126B"	"MONDO:0032633"	"mitochondrial complex 1 deficiency, nuclear type 29"	"OMIM:618250"	"Mitochondrial complex I deficiency, nuclear type 29"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30883"	"TMEM126B"	"OMIM:618250"	"Mitochondrial complex I deficiency, nuclear type 29"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-13 19:03:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77519"	"2021-09-28"
"GENCC_000101-HGNC_29411-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:29411"	"TMEM132D"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29411"	"TMEM132D"	"MONDO:0001071"	"Autosomal recessive. Mild ID."	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"868671"	"2021-09-28"
"GENCC_000101-HGNC_26991-OMIM_618481-HP_0000007-GENCC_100004"	"HGNC:26991"	"TMEM132E"	"MONDO:0032776"	"hearing loss, autosomal recessive 99"	"OMIM:618481"	"Deafness, autosomal recessive 99"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26991"	"TMEM132E"	"OMIM:618481"	"Deafness, autosomal recessive 99"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"860506"	"2021-09-28"
"GENCC_000101-HGNC_26944-OMIM_614465-HP_0000007-GENCC_100003"	"HGNC:26944"	"TMEM138"	"MONDO:0013764"	"Joubert syndrome 16"	"OMIM:614465"	"Joubert syndrome 16"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26944"	"TMEM138"	"OMIM:614465"	"Joubert syndrome 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-22 19:03:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78760"	"2021-09-28"
"GENCC_000101-HGNC_30414-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:30414"	"TMEM147"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30414"	"TMEM147"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17483"	"2023-08-19"
"GENCC_000101-HGNC_28330-MONDO_0016391-HP_0000007-GENCC_100004"	"HGNC:28330"	"TMEM167A"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28330"	"TMEM167A"	"MONDO:0016391"	"neonatal diabetes mellitus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"879993"	"2021-09-28"
"GENCC_000101-HGNC_18085-OMIM_616829-HP_0000007-GENCC_100003"	"HGNC:18085"	"VMA12"	"MONDO:0014790"	"TMEM199-CDG"	"OMIM:616829"	"Congenital disorder of glycosylation, type IIp"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18085"	"TMEM199"	"OMIM:616829"	"Congenital disorder of glycosylation, type IIp"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-29 19:03:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"804224"	"2021-09-28"
"GENCC_000101-HGNC_15876-MONDO_0005180-HP_0032113-GENCC_100003"	"HGNC:15876"	"TMEM230"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15876"	"TMEM230"	"MONDO:0005180"	"Familial Parkinsons disease"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:03:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"63275"	"2021-09-28"
"GENCC_000101-HGNC_25186-OMIM_607454-HP_0000006-GENCC_100003"	"HGNC:25186"	"TMEM240"	"MONDO:0011833"	"spinocerebellar ataxia type 21"	"OMIM:607454"	"Spinocerebellar ataxia 21"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25186"	"TMEM240"	"OMIM:607454"	"Spinocerebellar ataxia 21"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-09 19:03:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"993079"	"2021-09-28"
"GENCC_000101-HGNC_29118-OMIM_618688-HP_0000006-GENCC_100004"	"HGNC:29118"	"TMEM63A"	"MONDO:0032871"	"leukodystrophy, hypomyelinating, 19, transient infantile"	"OMIM:618688"	"Leukodystrophy, hypomyelinating, 19, transient infantile"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29118"	"TMEM63A"	"OMIM:618688"	"Leukodystrophy, hypomyelinating, 19, transient infantile"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-04 19:03:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3467"	"2021-09-28"
"GENCC_000101-HGNC_28396-OMIM_216360-HP_0000007-GENCC_100002"	"HGNC:28396"	"TMEM67"	"MONDO:0008996"	"COACH syndrome 1"	"OMIM:216360"	"COACH syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28396"	"TMEM67"	"OMIM:216360"	"COACH syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2016-06-07 19:03:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"38804"	"2021-09-28"
"GENCC_000101-HGNC_28396-OMIM_610688-HP_0000007-GENCC_100002"	"HGNC:28396"	"TMEM67"	"MONDO:0012539"	"Joubert syndrome 6"	"OMIM:610688"	"Joubert syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28396"	"TMEM67"	"OMIM:610688"	"Joubert syndrome 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2016-06-07 19:03:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"388042"	"2021-09-28"
"GENCC_000101-HGNC_28396-OMIM_607361-HP_0000007-GENCC_100001"	"HGNC:28396"	"TMEM67"	"MONDO:0011821"	"Meckel syndrome, type 3"	"OMIM:607361"	"Meckel syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28396"	"TMEM67"	"OMIM:607361"	"Meckel syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-06-07 19:03:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"388043"	"2021-09-28"
"GENCC_000101-HGNC_28396-OMIM_613550-HP_0000007-GENCC_100003"	"HGNC:28396"	"TMEM67"	"MONDO:0013302"	"nephronophthisis 11"	"OMIM:613550"	"Nephronophthisis 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28396"	"TMEM67"	"OMIM:613550"	"Nephronophthisis 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-09-10 19:03:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"388044"	"2021-09-28"
"GENCC_000101-HGNC_26579-MONDO_0005071-HP_0000007-GENCC_100004"	"HGNC:26579"	"TMEM92"	"MONDO:0005071"	"nervous system disorder"	"MONDO:0005071"	"nervous system disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26579"	"TMEM92"	"MONDO:0005071"	"Nervous system disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"816018"	"2021-09-28"
"GENCC_000101-HGNC_28983-OMIM_618316-HP_0000007-GENCC_100003"	"HGNC:28983"	"TMEM94"	"MONDO:0032672"	"intellectual developmental disorder with cardiac defects and dysmorphic facies"	"OMIM:618316"	"Intellectual developmental disorder with cardiac defects and dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28983"	"TMEM94"	"OMIM:618316"	"Intellectual developmental disorder with cardiac defects and dysmorphic facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-12-13 19:03:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3446"	"2021-09-28"
"GENCC_000101-HGNC_24529-OMIM_615972-HP_0000006-GENCC_100003"	"HGNC:24529"	"TMEM98"	"MONDO:0014426"	"nanophthalmos 4"	"OMIM:615972"	"Nanophthalmos 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24529"	"TMEM98"	"OMIM:615972"	"Nanophthalmos 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:03:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"61266"	"2021-09-28"
"GENCC_000101-HGNC_11875-MONDO_0005021-HP_0000006-GENCC_100006"	"HGNC:11875"	"TMPO"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11875"	"TMPO"	"MONDO:0005021"	"Dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100006"	"Refuted Evidence"	"2020-04-28 19:03:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4886"	"2021-09-28"
"GENCC_000101-HGNC_14908-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:14908"	"TMPRSS5"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14908"	"TMPRSS5"	"MONDO:0019497"	"nonsyndromic genetic deafness"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"52347"	"2021-09-28"
"GENCC_000101-HGNC_30739-OMIM_618730-HP_0000007-GENCC_100003"	"HGNC:30739"	"TMX2"	"MONDO:0032887"	"neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"	"OMIM:618730"	"Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30739"	"TMX2"	"OMIM:618730"	"Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-02 19:03:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"782474"	"2021-09-28"
"GENCC_000101-HGNC_11896-OMIM_616744-HP_0000006-GENCC_100003"	"HGNC:11896"	"TNFAIP3"	"MONDO:0014761"	"hereditary pediatric Behçet-like disease"	"OMIM:616744"	"Autoinflammatory syndrome, familial, Behcet-like 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11896"	"TNFAIP3"	"OMIM:616744"	"Autoinflammatory syndrome, familial, Behcet-like"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-29 19:03:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4865"	"2021-09-28"
"GENCC_000101-HGNC_11905-OMIM_275355-HP_0000006-GENCC_100004"	"HGNC:11905"	"TNFRSF10B"	"MONDO:0010150"	"head and neck squamous cell carcinoma"	"OMIM:275355"	"Squamous cell carcinoma, head and neck, somatic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11905"	"TNFRSF10B"	"OMIM:275355"	"Squamous cell carcinoma, head and neck"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5437"	"2021-09-28"
"GENCC_000101-HGNC_11908-OMIM_174810-HP_0000006-GENCC_100003"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0008275"	"familial expansile osteolysis"	"OMIM:174810"	"Osteolysis, familial expansile"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11908"	"TNFRSF11A"	"OMIM:174810"	"Osteolysis, familial expansile"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-02 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64990"	"2025-01-17"
"GENCC_000101-HGNC_11908-OMIM_612301-HP_0000007-GENCC_100002"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0012859"	"autosomal recessive osteopetrosis 7"	"OMIM:612301"	"Osteopetrosis, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11908"	"TNFRSF11A"	"OMIM:612301"	"Osteopetrosis, autosomal recessive 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-02 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64999"	"2025-01-17"
"GENCC_000101-HGNC_11908-MONDO_0009138-HP_0000007-GENCC_100004"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0009138"	"dysosteosclerosis"	"MONDO:0009138"	"dysosteosclerosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0009138"	"Dysosteosclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-15 19:03:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"54365"	"2021-09-28"
"GENCC_000101-HGNC_11916-OMIM_142680-HP_0000006-GENCC_100001"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"OMIM:142680"	"Periodic fever, familial"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11916"	"TNFRSF1A"	"OMIM:142680"	"Periodic fever, familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:03:16"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4896"	"2021-09-28"
"GENCC_000101-HGNC_11926-OMIM_259710-HP_0000007-GENCC_100003"	"HGNC:11926"	"TNFSF11"	"MONDO:0009816"	"autosomal recessive osteopetrosis 2"	"OMIM:259710"	"Osteopetrosis, autosomal recessive 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11926"	"TNFSF11"	"OMIM:259710"	"Osteopetrosis, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-17 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64911"	"2025-01-17"
"GENCC_000101-HGNC_11946-OMIM_601680-HP_0000007-GENCC_100003"	"HGNC:11946"	"TNNI2"	"MONDO:0020820"	"distal arthrogryposis type 2B1"	"OMIM:601680"	"Arthrogryposis, distal, type 2B1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11946"	"TNNI2"	"OMIM:601680"	"Arthrogryposis, distal, type 2B1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 19:03:17"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4891"	"2021-09-28"
"GENCC_000101-HGNC_11948-OMIM_605355-HP_0000007-GENCC_100002"	"HGNC:11948"	"TNNT1"	"MONDO:0011539"	"nemaline myopathy 5"	"OMIM:605355"	"Nemaline myopathy 5A, autosomal recessive, severe infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11948"	"TNNT1"	"OMIM:605355"	"Nemaline myopathy 5, Amish type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:03:17"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4895"	"2021-09-28"
"GENCC_000101-HGNC_11950-OMIM_618435-HP_0000006-GENCC_100003"	"HGNC:11950"	"TNNT3"	"MONDO:0032750"	"arthrogryposis, distal, type 2B2"	"OMIM:618435"	"Arthrogryposis, distal, type 2B2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11950"	"TNNT3"	"OMIM:618435"	"Arthrogryposis, distal, type 2B2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-12 19:03:17"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4802"	"2021-09-28"
"GENCC_000101-HGNC_11950-MONDO_0018958-HP_0000007-GENCC_100003"	"HGNC:11950"	"TNNT3"	"MONDO:0018958"	"nemaline myopathy"	"MONDO:0018958"	"nemaline myopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11950"	"TNNT3"	"MONDO:0018958"	"Nemaline myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-12 19:03:17"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"48021"	"2021-09-28"
"GENCC_000101-HGNC_17103-OMIM_608423-HP_0000006-GENCC_100003"	"HGNC:17103"	"TNPO3"	"MONDO:0012034"	"autosomal dominant limb-girdle muscular dystrophy type 1F"	"OMIM:608423"	"Muscular dystrophy, limb-girdle, autosomal dominant 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17103"	"TNPO3"	"OMIM:608423"	"Muscular dystrophy, limb-girdle, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-22 19:03:18"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69790"	"2021-09-28"
"GENCC_000101-HGNC_29190-OMIM_619243-HP_0000006-GENCC_100003"	"HGNC:29190"	"TNRC6B"	"MONDO:0030995"	"global developmental delay with speech and behavioral abnormalities"	"OMIM:619243"	"Global developmental delay with speech and behavioral abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29190"	"TNRC6B"	"OMIM:619243"	"	Global developmental delay with speech and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-20 19:03:18"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69886"	"2021-09-28"
"GENCC_000101-HGNC_11982-MONDO_0005046-HP_0000006-GENCC_100004"	"HGNC:11982"	"TOM1"	"MONDO:0005046"	"immune system disorder"	"MONDO:0005046"	"immune system disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11982"	"TOM1"	"MONDO:0005046"	"immune system disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-07-26 19:03:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82209"	"2021-09-28"
"GENCC_000101-HGNC_11985-MONDO_0005071-HP_0000006-GENCC_100004"	"HGNC:11985"	"TOMM70"	"MONDO:0005071"	"nervous system disorder"	"MONDO:0005071"	"nervous system disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11985"	"TOMM70"	"MONDO:0005071"	"nervous system disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-21 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14818"	"2025-01-17"
"GENCC_000101-HGNC_7801-OMIM_271510-HP_0000007-GENCC_100001"	"HGNC:7801"	"TONSL"	"MONDO:0010068"	"spondyloepimetaphyseal dysplasia, sponastrime type"	"OMIM:271510"	"Spondyloepimetaphyseal dysplasia, sponastrime type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7801"	"TONSL"	"OMIM:271510"	"Spondyloepimetaphyseal dysplasia, sponastrime type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-23 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11450"	"2025-01-17"
"GENCC_000101-HGNC_11992-OMIM_618097-HP_0000007-GENCC_100001"	"HGNC:11992"	"TOP3A"	"MONDO:0020628"	"microcephaly, growth restriction, and increased sister chromatid exchange 2"	"OMIM:618097"	"Microcephaly, growth restriction, and increased sister chromatid exchange 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11992"	"TOP3A"	"OMIM:618097"	"Microcephaly, growth restriction, and increased sister chromatid exchange 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-06-23 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11190"	"2024-01-02"
"GENCC_000101-HGNC_3098-OMIM_128100-HP_0000006-GENCC_100003"	"HGNC:3098"	"TOR1A"	"MONDO:0007492"	"early-onset generalized limb-onset dystonia"	"OMIM:128100"	"Dystonia-1, torsion"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3098"	"TOR1A"	"OMIM:128100"	"Dystonia-1, torsion"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-06-29 19:03:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8518"	"2021-09-28"
"GENCC_000101-HGNC_3098-OMIM_618947-HP_0000007-GENCC_100003"	"HGNC:3098"	"TOR1A"	"MONDO:0100218"	"arthrogryposis multiplex congenita 5"	"OMIM:618947"	"Arthrogryposis multiplex congenita 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3098"	"TOR1A"	"OMIM:618947"	"Arthrogryposis multiplex congenita 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-12-21 19:03:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"85182"	"2021-09-28"
"GENCC_000101-HGNC_11998-MONDO_0007254-HP_0000006-GENCC_100001"	"HGNC:11998"	"TP53"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11998"	"TP53"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-29 19:03:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4874"	"2021-09-28"
"GENCC_000101-HGNC_11998-OMIM_151623-HP_0000006-GENCC_100001"	"HGNC:11998"	"TP53"	"MONDO:0007903"	"Li-Fraumeni syndrome 1"	"OMIM:151623"	"Li-Fraumeni syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11998"	"TP53"	"OMIM:151623"	"Li-Fraumeni syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2016-08-05 19:03:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"48742"	"2021-09-28"
"GENCC_000101-HGNC_11998-OMIM_202300-HP_0000006-GENCC_100002"	"HGNC:11998"	"TP53"	"MONDO:0008734"	"adrenocortical carcinoma, hereditary"	"OMIM:202300"	"{Adrenocortical carcinoma, pediatric}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11998"	"TP53"	"OMIM:202300"	"Adrenocortical carcinoma, pediatric"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-23 19:03:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"48743"	"2021-09-28"
"GENCC_000101-HGNC_11998-OMIM_618165-HP_0000006-GENCC_100003"	"HGNC:11998"	"TP53"	"MONDO:0032573"	"bone marrow failure syndrome 5"	"OMIM:618165"	"Bone marrow failure syndrome 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11998"	"TP53"	"OMIM:618165"	"Bone marrow failure syndrome 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-26 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11116"	"2025-01-17"
"GENCC_000101-HGNC_16197-OMIM_617730-HP_0000007-GENCC_100004"	"HGNC:16197"	"TP53RK"	"MONDO:0033008"	"Galloway-Mowat syndrome 4"	"OMIM:617730"	"Galloway-Mowat syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16197"	"TP53RK"	"OMIM:617730"	"Galloway-Mowat syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-31 19:03:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"886575"	"2021-09-28"
"GENCC_000101-HGNC_15856-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:15856"	"TP53TG5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15856"	"TP53TG5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"64631"	"2021-09-28"
"GENCC_000101-HGNC_12016-OMIM_619220-HP_0000007-GENCC_100003"	"HGNC:12016"	"TPP2"	"MONDO:0030971"	"immunodeficiency 78 with autoimmunity and developmental delay"	"OMIM:619220"	"Immunodeficiency 78 with autoimmunity and developmental delay"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12016"	"TPP2"	"OMIM:619220"	"Immunodeficiency 78 with autoimmunity and developmental delay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-14 19:03:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4840"	"2021-09-28"
"GENCC_000101-HGNC_20456-OMIM_618164-HP_0000006-GENCC_100001"	"HGNC:20456"	"TRAF7"	"MONDO:0032572"	"cardiac, facial, and digital anomalies with developmental delay"	"OMIM:618164"	"Cardiac, facial, and digital anomalies with developmental delay"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20456"	"TRAF7"	"OMIM:618164"	"Cardiac, facial, and digital anomalies with developmental delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-05-19 19:03:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50698"	"2021-09-28"
"GENCC_000101-HGNC_30887-OMIM_618331-HP_0000007-GENCC_100004"	"HGNC:30887"	"TRAPPC2L"	"MONDO:0032681"	"encephalopathy, progressive, early-onset, with episodic rhabdomyolysis"	"OMIM:618331"	"Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30887"	"TRAPPC2L"	"OMIM:618331"	"Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-29 19:03:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78139"	"2021-09-28"
"GENCC_000101-HGNC_19943-OMIM_618741-HP_0000007-GENCC_100004"	"HGNC:19943"	"TRAPPC4"	"MONDO:0032894"	"neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"OMIM:618741"	"Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19943"	"TRAPPC4"	"OMIM:618741"	"Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-05 19:03:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78933"	"2021-09-28"
"GENCC_000101-HGNC_23069-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:23069"	"TRAPPC6A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23069"	"TRAPPC6A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-05 19:03:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43232"	"2021-09-28"
"GENCC_000101-HGNC_23066-OMIM_617862-HP_0000007-GENCC_100003"	"HGNC:23066"	"TRAPPC6B"	"MONDO:0060640"	"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"OMIM:617862"	"Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23066"	"TRAPPC6B"	"OMIM:617862"	"Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-06-26 19:03:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"866779"	"2021-09-28"
"GENCC_000101-HGNC_30832-OMIM_613192-HP_0000007-GENCC_100003"	"HGNC:30832"	"TRAPPC9"	"MONDO:0013173"	"intellectual disability, autosomal recessive 13"	"OMIM:613192"	"Intellectual developmental disorder, autosomal recessive 13"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30832"	"TRAPPC9"	"OMIM:613192"	"Mental retardation, autosomal recessive 13"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-12 19:03:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"59131"	"2021-09-28"
"GENCC_000101-HGNC_18273-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:18273"	"TRERF1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18273"	"TRERF1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77523"	"2021-09-28"
"GENCC_000101-HGNC_16228-MONDO_0004994-HP_0000006-GENCC_100004"	"HGNC:16228"	"TRIB3"	"MONDO:0004994"	"cardiomyopathy"	"MONDO:0004994"	"cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16228"	"TRIB3"	"MONDO:0004994"	"cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-02-14 19:03:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74418"	"2021-09-28"
"GENCC_000101-HGNC_16379-MONDO_0005265-HP_0000007-GENCC_100004"	"HGNC:16379"	"TRIM22"	"MONDO:0005265"	"inflammatory bowel disease"	"MONDO:0005265"	"inflammatory bowel disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16379"	"TRIM22"	"MONDO:0005265"	"Very Early Onset Inflammatory Bowel Disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82901"	"2021-09-28"
"GENCC_000101-HGNC_660-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:660"	"TRIM23"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:660"	"TRIM23"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-04 19:03:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"949"	"2021-09-28"
"GENCC_000101-HGNC_7523-OMIM_253250-HP_0000007-GENCC_100002"	"HGNC:7523"	"TRIM37"	"MONDO:0009664"	"mulibrey nanism"	"OMIM:253250"	"Mulibrey nanism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7523"	"TRIM37"	"OMIM:253250"	"Mulibrey nanism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-07 19:03:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"0738"	"2021-09-28"
"GENCC_000101-HGNC_19016-OMIM_617142-HP_0000006-GENCC_100004"	"HGNC:19016"	"TRIM44"	"MONDO:0014938"	"aniridia 3"	"OMIM:617142"	"?Aniridia 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19016"	"TRIM44"	"OMIM:617142"	"Aniridia 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70417"	"2021-09-28"
"GENCC_000101-HGNC_32669-OMIM_618667-HP_0000006-GENCC_100004"	"HGNC:32669"	"TRIM71"	"MONDO:0032862"	"hydrocephalus, congenital communicating, 1"	"OMIM:618667"	"Hydrocephalus, congenital, 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32669"	"TRIM71"	"OMIM:618667"	"Hydrocephalus, congenital communicating, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-17 19:03:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"898027"	"2021-09-28"
"GENCC_000101-HGNC_12305-OMIM_200600-HP_0000007-GENCC_100003"	"HGNC:12305"	"TRIP11"	"MONDO:0008701"	"achondrogenesis type IA"	"OMIM:200600"	"Achondrogenesis, type IA"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12305"	"TRIP11"	"OMIM:200600"	"Achondrogenesis, type IA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-07 19:03:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3968"	"2021-09-28"
"GENCC_000101-HGNC_12307-OMIM_617598-HP_0000007-GENCC_100004"	"HGNC:12307"	"TRIP13"	"MONDO:0054736"	"mosaic variegated aneuploidy syndrome 3"	"OMIM:617598"	"Mosaic variegated aneuploidy syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12307"	"TRIP13"	"OMIM:617598"	"Mosaic variegated aneuploidy syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-02-23 19:03:27"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3983"	"2021-09-28"
"GENCC_000101-HGNC_12307-OMIM_619011-HP_0000007-GENCC_100004"	"HGNC:12307"	"TRIP13"	"MONDO:0033565"	"oocyte maturation defect 9"	"OMIM:619011"	"Oocyte/zygote/embryo maturation arrest 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12307"	"TRIP13"	"OMIM:619011"	"Oocyte maturation defect 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-06-03 19:03:27"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"39834"	"2021-09-28"
"GENCC_000101-HGNC_25980-OMIM_618302-HP_0000007-GENCC_100003"	"HGNC:25980"	"TRMT1"	"MONDO:0032665"	"intellectual developmental disorder, autosomal recessive 68"	"OMIM:618302"	"Intellectual developmental disorder, autosomal recessive 68"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25980"	"TRMT1"	"OMIM:618302"	"Mental retardation, autosomal recessive 68"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-10 19:03:27"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77168"	"2021-09-28"
"GENCC_000101-HGNC_28403-OMIM_616033-HP_0000007-GENCC_100003"	"HGNC:28403"	"TRMT10A"	"MONDO:0000208"	"microcephaly, short stature, and impaired glucose metabolism 1"	"OMIM:616033"	"Microcephaly, short stature, and impaired glucose metabolism 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28403"	"TRMT10A"	"OMIM:616033"	"Microcephaly, short stature, and impaired glucose metabolism 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:03:27"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"39754"	"2021-09-28"
"GENCC_000101-HGNC_26022-OMIM_616974-HP_0000007-GENCC_100004"	"HGNC:26022"	"TRMT10C"	"MONDO:0014856"	"combined oxidative phosphorylation defect type 30"	"OMIM:616974"	"Combined oxidative phosphorylation deficiency 30"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26022"	"TRMT10C"	"OMIM:616974"	"Combined oxidative phosphorylation deficiency 30"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-04 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18286"	"2024-01-02"
"GENCC_000101-HGNC_25481-OMIM_613070-HP_0000007-GENCC_100001"	"HGNC:25481"	"TRMU"	"MONDO:0013111"	"acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"	"OMIM:613070"	"Liver failure, transient infantile"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25481"	"TRMU"	"OMIM:613070"	"Liver failure, transient infantile"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-11-21 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61009"	"2025-01-17"
"GENCC_000101-HGNC_16181-MONDO_0005420-HP_0000006-GENCC_100004"	"HGNC:16181"	"TRPC4AP"	"MONDO:0005420"	"hypothyroidism"	"MONDO:0005420"	"hypothyroidism"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16181"	"TRPC4AP"	"MONDO:0005420"	"Congenital primary hypothyroidism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-22 19:03:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"61899"	"2021-09-28"
"GENCC_000101-HGNC_17992-MONDO_0005090-HP_0000006-GENCC_100004"	"HGNC:17992"	"TRPM3"	"MONDO:0005090"	"schizophrenia"	"MONDO:0005090"	"schizophrenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17992"	"TRPM3"	"MONDO:0005090"	"schizophrenia (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"52291"	"2021-09-28"
"GENCC_000101-HGNC_17992-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:17992"	"TRPM3"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17992"	"TRPM3"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-07-26 19:03:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"522915"	"2021-09-28"
"GENCC_000101-HGNC_17992-MONDO_0015567-HP_0000006-GENCC_100004"	"HGNC:17992"	"TRPM3"	"MONDO:0015567"	"cataract-glaucoma syndrome"	"MONDO:0015567"	"cataract-glaucoma syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17992"	"TRPM3"	"MONDO:0015567"	"inherited cataract and glaucoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"52291"	"2021-09-28"
"GENCC_000101-HGNC_18084-OMIM_614594-HP_0000006-GENCC_100002"	"HGNC:18084"	"TRPV3"	"MONDO:0019014"	"mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"OMIM:614594"	"Olmsted syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18084"	"TRPV3"	"OMIM:614594"	"Olmsted syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:03:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"816780"	"2021-09-28"
"GENCC_000101-HGNC_18083-OMIM_181405-HP_0000006-GENCC_100003"	"HGNC:18083"	"TRPV4"	"MONDO:0008408"	"scapuloperoneal spinal muscular atrophy, autosomal dominant"	"OMIM:181405"	"Scapuloperoneal spinal muscular atrophy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18083"	"TRPV4"	"OMIM:181405"	"Scapuloperoneal spinal muscular atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-28 19:03:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"739082"	"2021-09-28"
"GENCC_000101-HGNC_14006-OMIM_618188-HP_0000007-GENCC_100003"	"HGNC:14006"	"TRPV6"	"MONDO:0032591"	"hyperparathyroidism, transient neonatal"	"OMIM:618188"	"Hyperparathyroidism, transient neonatal"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14006"	"TRPV6"	"OMIM:618188"	"Hyperparathyroidism, transient neonatal"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-28 19:03:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77729"	"2021-09-28"
"GENCC_000101-HGNC_12347-OMIM_618454-HP_0000006-GENCC_100003"	"HGNC:12347"	"TRRAP"	"MONDO:0032760"	"developmental delay with or without dysmorphic facies and autism"	"OMIM:618454"	"Developmental delay with or without dysmorphic facies and autism"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12347"	"TRRAP"	"OMIM:618454"	"Developmental delay with or without dysmorphic facies and autism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-03-27 19:03:30"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5637"	"2021-09-28"
"GENCC_000101-HGNC_12347-OMIM_618778-HP_0000006-GENCC_100004"	"HGNC:12347"	"TRRAP"	"MONDO:0032911"	"hearing loss, autosomal dominant 75"	"OMIM:618778"	"?Deafness, autosomal dominant 75"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12347"	"TRRAP"	"OMIM:618778"	"Deafness, autosomal dominant 75"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-06-27 19:03:30"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5637"	"2021-09-28"
"GENCC_000101-HGNC_12362-OMIM_191100-HP_0000006-GENCC_100001"	"HGNC:12362"	"TSC1"	"MONDO:0008612"	"tuberous sclerosis 1"	"OMIM:191100"	"Tuberous sclerosis-1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12362"	"TSC1"	"OMIM:191100"	"Tuberous sclerosis-1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-05-16 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64137"	"2025-01-17"
"GENCC_000101-HGNC_16791-OMIM_617026-HP_0000007-GENCC_100003"	"HGNC:16791"	"TSEN15"	"MONDO:0014874"	"pontocerebellar hypoplasia, type 2F"	"OMIM:617026"	"Pontocerebellar hypoplasia, type 2F"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16791"	"TSEN15"	"OMIM:617026"	"Pontocerebellar hypoplasia, type 2F"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-11-21 19:03:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"881018"	"2021-09-28"
"GENCC_000101-HGNC_15506-OMIM_612390-HP_0000007-GENCC_100004"	"HGNC:15506"	"TSEN34"	"MONDO:0012891"	"pontocerebellar hypoplasia type 2C"	"OMIM:612390"	"?Pontocerebellar hypoplasia type 2C"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15506"	"TSEN34"	"OMIM:612390"	"Pontocerebellar hypoplasia type 2C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43206"	"2021-09-28"
"GENCC_000101-HGNC_30700-MONDO_0019719-HP_0000006-GENCC_100004"	"HGNC:30700"	"TSHZ3"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30700"	"TSHZ3"	"MONDO:0019719"	"Congenital anomalies of the kidney and urinary tract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74181"	"2021-09-28"
"GENCC_000101-HGNC_30700-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:30700"	"TSHZ3"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30700"	"TSHZ3"	"MONDO:0005258"	"AUTISM"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"741813"	"2021-09-28"
"GENCC_000101-HGNC_21641-OMIM_613310-HP_0000006-GENCC_100002"	"HGNC:21641"	"TSPAN12"	"MONDO:0013218"	"exudative vitreoretinopathy 5"	"OMIM:613310"	"Exudative vitreoretinopathy 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21641"	"TSPAN12"	"OMIM:613310"	"Exudative vitreoretinopathy 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-08-31 19:03:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69770"	"2021-09-28"
"GENCC_000101-HGNC_20660-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:20660"	"TSPAN18"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20660"	"TSPAN18"	"MONDO:0001071"	"Autosomal recessive. Severe ID, deafness."	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"32893"	"2021-09-28"
"GENCC_000101-HGNC_1268-OMIM_614861-HP_0000007-GENCC_100004"	"HGNC:1268"	"TSPEAR"	"MONDO:0013929"	"autosomal recessive nonsyndromic hearing loss 98"	"OMIM:614861"	"?Deafness, autosomal recessive 98"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1268"	"TSPEAR"	"OMIM:614861"	"Deafness, autosomal recessive 98"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70250"	"2021-09-28"
"GENCC_000101-HGNC_1268-OMIM_618180-HP_0000007-GENCC_100003"	"HGNC:1268"	"TSPEAR"	"MONDO:0032584"	"ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"	"OMIM:618180"	"Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1268"	"TSPEAR"	"OMIM:618180"	"Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-30 19:03:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"702504"	"2021-09-28"
"GENCC_000101-HGNC_12382-OMIM_608800-HP_0000007-GENCC_100003"	"HGNC:12382"	"TSPYL1"	"MONDO:0012124"	"sudden infant death-dysgenesis of the testes syndrome"	"OMIM:608800"	"Sudden infant death with dysgenesis of the testes syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12382"	"TSPYL1"	"OMIM:608800"	"Sudden infant death with dysgenesis of the testes syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-11-06 19:03:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4673"	"2021-09-28"
"GENCC_000101-HGNC_23700-OMIM_618801-HP_0000007-GENCC_100003"	"HGNC:23700"	"TTC12"	"MONDO:0032924"	"ciliary dyskinesia, primary, 45"	"OMIM:618801"	"Ciliary dyskinesia, primary, 45"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23700"	"TTC12"	"OMIM:618801"	"Ciliary dyskinesia, primary, 45"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-06 19:03:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70342"	"2021-09-28"
"GENCC_000101-HGNC_26006-OMIM_615157-HP_0000007-GENCC_100003"	"HGNC:26006"	"TTC19"	"MONDO:0014063"	"mitochondrial complex III deficiency nuclear type 2"	"OMIM:615157"	"Mitochondrial complex III deficiency, nuclear type 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26006"	"TTC19"	"OMIM:615157"	"Mitochondrial complex III deficiency, nuclear type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-07-10 19:03:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70326"	"2021-09-28"
"GENCC_000101-HGNC_19274-OMIM_619244-HP_0000007-GENCC_100004"	"HGNC:19274"	"TTC5"	"MONDO:0030999"	"neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism"	"OMIM:619244"	"Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19274"	"TTC5"	"OMIM:619244"	"TTC5-related neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-05-29 19:03:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"38547"	"2021-09-28"
"GENCC_000101-HGNC_20087-OMIM_615985-HP_0000007-GENCC_100003"	"HGNC:20087"	"TTC8"	"MONDO:0014436"	"Bardet-Biedl syndrome 8"	"OMIM:615985"	"Bardet-Biedl syndrome 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20087"	"TTC8"	"OMIM:615985"	"Bardet-Biedl syndrome 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-08 19:03:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"869281"	"2021-09-28"
"GENCC_000101-HGNC_29029-MONDO_0001149-HP_0000007-GENCC_100004"	"HGNC:29029"	"TTI1"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29029"	"TTI1"	"MONDO:0001149"	"microcephaly and ID"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3147"	"2021-09-28"
"GENCC_000101-HGNC_26262-OMIM_615541-HP_0000007-GENCC_100003"	"HGNC:26262"	"TTI2"	"MONDO:0014238"	"severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"	"OMIM:615541"	"Intellectual developmental disorder, autosomal recessive 39"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26262"	"TTI2"	"OMIM:615541"	"Mental retardation, autosomal recessive 39"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-07-10 19:03:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"52857"	"2021-09-28"
"GENCC_000101-HGNC_19963-OMIM_615860-HP_0000007-GENCC_100003"	"HGNC:19963"	"TTLL5"	"MONDO:0014372"	"cone-rod dystrophy 19"	"OMIM:615860"	"Cone-rod dystrophy 19"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19963"	"TTLL5"	"OMIM:615860"	"Cone-rod dystrophy 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-10 19:03:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69239"	"2021-09-28"
"GENCC_000101-HGNC_12405-OMIM_105210-HP_0000006-GENCC_100001"	"HGNC:12405"	"TTR"	"MONDO:0007100"	"familial amyloid neuropathy"	"OMIM:105210"	"Amyloidosis, hereditary, transthyretin-related"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12405"	"TTR"	"OMIM:105210"	"Amyloidosis, hereditary, transthyretin-related"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-23 19:03:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4641"	"2021-09-28"
"GENCC_000101-HGNC_12406-OMIM_616188-HP_0000007-GENCC_100004"	"HGNC:12406"	"TUB"	"MONDO:0014522"	"retinal dystrophy and obesity"	"OMIM:616188"	"?Retinal dystrophy and obesity"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12406"	"TUB"	"OMIM:616188"	"Retinal dystrophy and obesity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2017-10-02 19:03:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4647"	"2021-09-28"
"GENCC_000101-HGNC_12406-MONDO_0003233-HP_0000006-GENCC_100004"	"HGNC:12406"	"TUB"	"MONDO:0003233"	"essential tremor"	"MONDO:0003233"	"essential tremor"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12406"	"TUB"	"MONDO:0003233"	"TUB-related essential tremor"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-01 19:03:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"464744"	"2021-09-28"
"GENCC_000101-HGNC_20766-OMIM_611603-HP_0000006-GENCC_100002"	"HGNC:20766"	"TUBA1A"	"MONDO:0012703"	"lissencephaly due to TUBA1A mutation"	"OMIM:611603"	"Lissencephaly 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20766"	"TUBA1A"	"OMIM:611603"	"Lissencephaly 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-01-17 19:03:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4501"	"2021-09-28"
"GENCC_000101-HGNC_20765-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:20765"	"TUBA3E"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20765"	"TUBA3E"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"886480"	"2021-09-28"
"GENCC_000101-HGNC_23534-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:23534"	"TUBAL3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23534"	"TUBAL3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43518"	"2021-09-28"
"GENCC_000101-HGNC_20773-OMIM_616780-HP_0032113-GENCC_100001"	"HGNC:20773"	"TUBB8"	"MONDO:0021573"	"oocyte maturation defect 2"	"OMIM:616780"	"Oocyte/zygote/embryo maturation arrest 2"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20773"	"TUBB8"	"OMIM:616780"	"Oocyte maturation defect 2"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-04-23 19:03:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"904155"	"2021-09-28"
"GENCC_000101-HGNC_12417-OMIM_615412-HP_0000006-GENCC_100003"	"HGNC:12417"	"TUBG1"	"MONDO:0014171"	"complex cortical dysplasia with other brain malformations 4"	"OMIM:615412"	"Cortical dysplasia, complex, with other brain malformations 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12417"	"TUBG1"	"OMIM:615412"	"Cortical dysplasia, complex, with other brain malformations 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-07 19:03:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4659"	"2021-09-28"
"GENCC_000101-HGNC_18599-OMIM_618737-HP_0000007-GENCC_100004"	"HGNC:18599"	"TUBGCP2"	"MONDO:0032893"	"pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures"	"OMIM:618737"	"Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18599"	"TUBGCP2"	"OMIM:618737"	"Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-04 19:03:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82500"	"2021-09-28"
"GENCC_000101-HGNC_20652-MONDO_0018921-HP_0000007-GENCC_100003"	"HGNC:20652"	"TXNDC15"	"MONDO:0018921"	"Meckel syndrome"	"MONDO:0018921"	"Meckel syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20652"	"TXNDC15"	"MONDO:0018921"	"AR Meckel Gruber"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-03-25 19:03:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43442"	"2021-09-28"
"GENCC_000101-HGNC_30551-OMIM_608572-HP_0000007-GENCC_100002"	"HGNC:30551"	"TXNL4A"	"MONDO:0012064"	"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	"OMIM:608572"	"Burn-McKeown syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30551"	"TXNL4A"	"OMIM:608572"	"Burn-McKeown syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-03-19 19:03:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82324"	"2021-09-28"
"GENCC_000101-HGNC_18155-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:18155"	"TXNRD2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18155"	"TXNRD2"	"MONDO:0005021"	"Cardiomyopathy, dilated"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-28 19:03:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82754"	"2021-09-28"
"GENCC_000101-HGNC_12449-OMIM_221770-HP_0000007-GENCC_100003"	"HGNC:12449"	"TYROBP"	"MONDO:0020749"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"OMIM:221770"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12449"	"TYROBP"	"OMIM:221770"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:03:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4927"	"2021-09-28"
"GENCC_000101-HGNC_12469-MONDO_0021166-HP_0000005-GENCC_100008"	"HGNC:12469"	"UBA1"	"MONDO:0021166"	"inflammatory disease"	"MONDO:0021166"	"inflammatory disease"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12469"	"UBA1"	"MONDO:0021166"	"inflammatory disease"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2020-10-29 19:03:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4984"	"2021-09-28"
"GENCC_000101-HGNC_12469-OMIM_301830-HP_0001417-GENCC_100003"	"HGNC:12469"	"UBA1"	"MONDO:0010532"	"infantile-onset X-linked spinal muscular atrophy"	"OMIM:301830"	"Spinal muscular atrophy, X-linked 2, infantile"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12469"	"UBA1"	"OMIM:301830"	"Spinal muscular atrophy, X-linked 2, infantile"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2017-10-25 19:03:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"49844"	"2021-09-28"
"GENCC_000101-HGNC_30661-MONDO_0019042-HP_0000006-GENCC_100002"	"HGNC:30661"	"UBA2"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30661"	"UBA2"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-11-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18961"	"2023-08-19"
"GENCC_000101-HGNC_25581-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:25581"	"UBA6"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25581"	"UBA6"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-14 19:03:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77691"	"2021-09-28"
"GENCC_000101-HGNC_12461-OMIM_618418-HP_0000006-GENCC_100002"	"HGNC:12461"	"UBAP1"	"MONDO:0032737"	"spastic paraplegia 80, autosomal dominant"	"OMIM:618418"	"Spastic paraplegia 80, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12461"	"UBAP1"	"OMIM:618418"	"Spastic paraplegia 80, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-06-20 19:03:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78648"	"2021-09-28"
"GENCC_000101-HGNC_12499-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:12499"	"UBE4A"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12499"	"UBE4A"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3970"	"2021-09-28"
"GENCC_000101-HGNC_12508-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:12508"	"UBQLN1"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12508"	"UBQLN1"	"MONDO:0001071"	"ID, DD, hypotonia, strabismus, dolichocephaly, simple and low-set ears, and early loss of teeth"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"63343"	"2021-09-28"
"GENCC_000101-HGNC_20344-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:20344"	"UBR7"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20344"	"UBR7"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-09 19:03:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77805"	"2021-09-28"
"GENCC_000101-HGNC_26941-OMIM_618076-HP_0000007-GENCC_100004"	"HGNC:26941"	"UFC1"	"MONDO:0060752"	"neurodevelopmental disorder with spasticity and poor growth"	"OMIM:618076"	"Neurodevelopmental disorder with spasticity and poor growth"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26941"	"UFC1"	"OMIM:618076"	"Neurodevelopmental disorder with spasticity and poor growth"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-05-24 19:03:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78721"	"2021-09-28"
"GENCC_000101-HGNC_12524-MONDO_0019269-HP_0000007-GENCC_100004"	"HGNC:12524"	"UGCG"	"MONDO:0019269"	"ichthyosis"	"MONDO:0019269"	"ichthyosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12524"	"UGCG"	"MONDO:0019269"	"AR lethal icthyosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-05-10 19:03:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4974"	"2021-09-28"
"GENCC_000101-HGNC_15784-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:15784"	"ULK4"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15784"	"ULK4"	"MONDO:0008315"	"PROSTATE CANCER"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-21 19:03:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70351"	"2021-09-28"
"GENCC_000101-HGNC_23147-OMIM_608898-HP_0000007-GENCC_100001"	"HGNC:23147"	"UNC13D"	"MONDO:0012146"	"familial hemophagocytic lymphohistiocytosis 3"	"OMIM:608898"	"Hemophagocytic lymphohistiocytosis, familial, 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23147"	"UNC13D"	"OMIM:608898"	"Hemophagocytic lymphohistiocytosis, familial, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-01-19 19:03:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"628630"	"2021-09-28"
"GENCC_000101-HGNC_14304-OMIM_619178-HP_0000007-GENCC_100003"	"HGNC:14304"	"UNC45B"	"MONDO:0030927"	"myofibrillar myopathy 11"	"OMIM:619178"	"Myofibrillar myopathy 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14304"	"UNC45B"	"OMIM:619178"	"UNC45B-related congenital myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-12-03 19:03:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"801516"	"2021-09-28"
"GENCC_000101-HGNC_20439-OMIM_300676-HP_0001417-GENCC_100003"	"HGNC:20439"	"UPF3B"	"MONDO:0010398"	"syndromic X-linked intellectual disability 14"	"OMIM:300676"	"Intellectual developmental disorder, X-linked syndromic 14"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20439"	"UPF3B"	"OMIM:300676"	"Mental retardation, X-linked, syndromic 14"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-14 19:03:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"17823"	"2021-09-28"
"GENCC_000101-HGNC_12580-MONDO_0019638-HP_0000006-GENCC_100004"	"HGNC:12580"	"UPK3A"	"MONDO:0019638"	"renal dysplasia"	"MONDO:0019638"	"renal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12580"	"UPK3A"	"MONDO:0019638"	"Renal hypodysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4952"	"2021-09-28"
"GENCC_000101-HGNC_12582-OMIM_615158-HP_0000007-GENCC_100004"	"HGNC:12582"	"UQCRB"	"MONDO:0014064"	"mitochondrial complex III deficiency nuclear type 3"	"OMIM:615158"	"Mitochondrial complex III deficiency, nuclear type 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12582"	"UQCRB"	"OMIM:615158"	"Mitochondrial complex III deficiency, nuclear type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78463"	"2023-08-19"
"GENCC_000101-HGNC_12587-OMIM_618775-HP_0000007-GENCC_100004"	"HGNC:12587"	"UQCRFS1"	"MONDO:0032909"	"mitochondrial complex 3 deficiency, nuclear type 10"	"OMIM:618775"	"Mitochondrial complex III deficiency, nuclear type 10"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12587"	"UQCRFS1"	"OMIM:618775"	"Mitochondrial complex III deficiency, nuclear type 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-30 19:03:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4951"	"2021-09-28"
"GENCC_000101-HGNC_12597-OMIM_276904-HP_0000007-GENCC_100001"	"HGNC:12597"	"USH1C"	"MONDO:0010171"	"Usher syndrome type 1C"	"OMIM:276904"	"Usher syndrome, type 1C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12597"	"USH1C"	"OMIM:276904"	"Usher syndrome, type 1C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-27 19:03:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82259"	"2021-09-28"
"GENCC_000101-HGNC_12597-OMIM_602092-HP_0000007-GENCC_100003"	"HGNC:12597"	"USH1C"	"MONDO:0011192"	"autosomal recessive nonsyndromic hearing loss 18A"	"OMIM:602092"	"Deafness, autosomal recessive 18A"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12597"	"USH1C"	"OMIM:602092"	"Deafness, autosomal recessive 18A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-27 19:03:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"822595"	"2021-09-28"
"GENCC_000101-HGNC_16356-OMIM_606943-HP_0000007-GENCC_100002"	"HGNC:16356"	"USH1G"	"MONDO:0011748"	"Usher syndrome type 1G"	"OMIM:606943"	"Usher syndrome, type 1G"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16356"	"USH1G"	"OMIM:606943"	"Usher syndrome, type 1G"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-07-22 19:03:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"860732"	"2021-09-28"
"GENCC_000101-HGNC_12618-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:12618"	"USP2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12618"	"USP2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3233"	"2021-09-28"
"GENCC_000101-HGNC_29255-MONDO_0001751-HP_0000007-GENCC_100002"	"HGNC:29255"	"USP53"	"MONDO:0001751"	"cholestasis"	"MONDO:0001751"	"cholestasis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29255"	"USP53"	"MONDO:0001751"	"USP53-related cholestasis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-08-14 19:03:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70796"	"2021-09-28"
"GENCC_000101-HGNC_12630-OMIM_616863-HP_0000006-GENCC_100002"	"HGNC:12630"	"USP7"	"MONDO:0014805"	"Hao-Fountain syndrome"	"OMIM:616863"	"Hao-Fountain syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12630"	"USP7"	"OMIM:616863"	"Hao-Fountain syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-09-27 19:03:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4540"	"2021-09-28"
"GENCC_000101-HGNC_12631-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:12631"	"USP8"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12631"	"USP8"	"MONDO:0100062"	"Developmental encepholpathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-03-25 19:03:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3828"	"2021-09-28"
"GENCC_000101-HGNC_1983-MONDO_0007329-HP_0000007-GENCC_100005"	"HGNC:1983"	"UTP4"	"MONDO:0007329"	"cirrhosis, familial"	"MONDO:0007329"	"cirrhosis, familial"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1983"	"UTP4"	"MONDO:0007329"	"cirrhosis, familial"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2018-08-30 19:03:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50381"	"2021-09-28"
"GENCC_000101-HGNC_25507-OMIM_617054-HP_0000007-GENCC_100003"	"HGNC:25507"	"VAC14"	"MONDO:0014889"	"striatonigral degeneration, childhood-onset"	"OMIM:617054"	"Striatonigral degeneration, childhood-onset"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25507"	"VAC14"	"OMIM:617054"	"Striatonigral degeneration, childhood-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-09 19:03:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77134"	"2021-09-28"
"GENCC_000101-HGNC_12643-OMIM_618760-HP_0000006-GENCC_100003"	"HGNC:12643"	"VAMP2"	"MONDO:0032900"	"neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"	"OMIM:618760"	"Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12643"	"VAMP2"	"OMIM:618760"	"Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-03-04 19:03:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1500"	"2021-09-28"
"GENCC_000101-HGNC_12665-OMIM_611407-HP_0000006-GENCC_100004"	"HGNC:12665"	"VCL"	"MONDO:0012667"	"dilated cardiomyopathy 1W"	"OMIM:611407"	"Cardiomyopathy, dilated, 1W"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12665"	"VCL"	"OMIM:611407"	"Cardiomyopathy, dilated, 1W"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-09-17 19:03:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4080"	"2021-09-28"
"GENCC_000101-HGNC_12665-OMIM_613255-HP_0000006-GENCC_100004"	"HGNC:12665"	"VCL"	"MONDO:0013200"	"hypertrophic cardiomyopathy 15"	"OMIM:613255"	"Cardiomyopathy, hypertrophic, 15"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12665"	"VCL"	"OMIM:613255"	"Cardiomyopathy, hypertrophic, 15"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-01-11 19:03:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"40805"	"2021-09-28"
"GENCC_000101-HGNC_12682-OMIM_615907-HP_0000006-GENCC_100002"	"HGNC:12682"	"VEGFC"	"MONDO:0014393"	"lymphatic malformation 4"	"OMIM:615907"	"Lymphatic malformation 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12682"	"VEGFC"	"OMIM:615907"	"Lymphatic malformation 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-06 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78736"	"2025-01-17"
"GENCC_000101-HGNC_12949-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:12949"	"VEZF1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12949"	"VEZF1"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-03 19:03:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4481"	"2021-09-28"
"GENCC_000101-HGNC_23595-OMIM_607317-HP_0000007-GENCC_100003"	"HGNC:23595"	"VPS13D"	"MONDO:0011811"	"autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"	"OMIM:607317"	"Spinocerebellar ataxia, autosomal recessive 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23595"	"VPS13D"	"OMIM:607317"	"Spinocerebellar ataxia, autosomal recessive 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-12 19:03:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77854"	"2021-09-28"
"GENCC_000101-HGNC_14584-MONDO_0015494-HP_0000007-GENCC_100004"	"HGNC:14584"	"VPS16"	"MONDO:0015494"	"isolated dystonia"	"MONDO:0015494"	"isolated dystonia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14584"	"VPS16"	"MONDO:0015494"	"autosomal recessive adolescent-onset primary dystonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-02 19:03:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"10128"	"2021-09-28"
"GENCC_000101-HGNC_18179-OMIM_617303-HP_0000007-GENCC_100004"	"HGNC:18179"	"VPS33A"	"MONDO:0015012"	"mucopolysaccharidosis-plus syndrome"	"OMIM:617303"	"Mucopolysaccharidosis-plus syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18179"	"VPS33A"	"OMIM:617303"	"Mucopolysaccharidosis-plus syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"17256"	"2021-09-28"
"GENCC_000101-HGNC_13487-OMIM_614203-HP_0000006-GENCC_100003"	"HGNC:13487"	"VPS35"	"MONDO:0013625"	"Parkinson disease 17"	"OMIM:614203"	"{Parkinson disease 17}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13487"	"VPS35"	"OMIM:614203"	"Parkinson disease 17"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-03-14 19:03:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77494"	"2021-09-28"
"GENCC_000101-HGNC_13487-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:13487"	"VPS35"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13487"	"VPS35"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-03-14 19:03:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"774945"	"2021-09-28"
"GENCC_000101-HGNC_24928-OMIM_614898-HP_0000007-GENCC_100004"	"HGNC:24928"	"VPS37A"	"MONDO:0013962"	"hereditary spastic paraplegia 53"	"OMIM:614898"	"Spastic paraplegia 53, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24928"	"VPS37A"	"OMIM:614898"	"Spastic paraplegia 53, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-01 19:03:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"894036"	"2021-09-28"
"GENCC_000101-HGNC_13488-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:13488"	"VPS4A"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13488"	"VPS4A"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-22 19:03:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"64859"	"2021-09-28"
"GENCC_000101-HGNC_1172-OMIM_618606-HP_0000007-GENCC_100004"	"HGNC:1172"	"VPS51"	"MONDO:0032831"	"pontocerebellar hypoplasia, type 13"	"OMIM:618606"	"Pontocerebellar hypoplasia, type 13"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1172"	"VPS51"	"OMIM:618606"	"Pontocerebellar hypoplasia, type 13"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-10 19:03:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"495"	"2021-09-28"
"GENCC_000101-HGNC_12718-OMIM_607596-HP_0000007-GENCC_100003"	"HGNC:12718"	"VRK1"	"MONDO:0011866"	"pontocerebellar hypoplasia type 1A"	"OMIM:607596"	"Pontocerebellar hypoplasia type 1A"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12718"	"VRK1"	"OMIM:607596"	"Pontocerebellar hypoplasia type 1A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-15 19:03:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4009"	"2021-09-28"
"GENCC_000101-HGNC_1975-MONDO_0021129-HP_0000007-GENCC_100002"	"HGNC:1975"	"VSX2"	"MONDO:0021129"	"microphthalmia"	"MONDO:0021129"	"microphthalmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1975"	"VSX2"	"MONDO:0021129"	"Microphthalmia, isolated 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2019-09-09 19:03:46"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"995384"	"2021-09-28"
"GENCC_000101-HGNC_24709-MONDO_0019719-HP_0000007-GENCC_100004"	"HGNC:24709"	"VWA2"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24709"	"VWA2"	"MONDO:0019719"	"AR Congenital anomalies of the kidney and urinary tract (CAKUT) vesicoureteral reflux"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-22 19:03:46"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"902421"	"2021-09-28"
"GENCC_000101-HGNC_28385-OMIM_616948-HP_0000007-GENCC_100004"	"HGNC:28385"	"VWA3B"	"MONDO:0014845"	"spinocerebellar ataxia, autosomal recessive 22"	"OMIM:616948"	"?Spinocerebellar ataxia, autosomal recessive 22"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28385"	"VWA3B"	"OMIM:616948"	"Spinocerebellar ataxia, autosomal recessive 22"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-04 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71722"	"2025-01-17"
"GENCC_000101-HGNC_23293-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:23293"	"WAPL"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23293"	"WAPL"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-07-24 19:03:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69219"	"2021-09-28"
"GENCC_000101-HGNC_12731-OMIM_301000-HP_0001417-GENCC_100001"	"HGNC:12731"	"WAS"	"MONDO:0010518"	"Wiskott-Aldrich syndrome"	"OMIM:301000"	"Wiskott-Aldrich syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12731"	"WAS"	"OMIM:301000"	"Wiskott-Aldrich syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-06-13 19:03:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4070"	"2021-09-28"
"GENCC_000101-HGNC_12732-OMIM_618707-HP_0000006-GENCC_100003"	"HGNC:12732"	"WASF1"	"MONDO:0032876"	"neurodevelopmental disorder with absent language and variable seizures"	"OMIM:618707"	"Neurodevelopmental disorder with absent language and variable seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12732"	"WASF1"	"OMIM:618707"	"Neurodevelopmental disorder with absent language and variable seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-09 19:03:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5391"	"2021-09-28"
"GENCC_000101-HGNC_20751-MONDO_0005258-HP_0000006-GENCC_100003"	"HGNC:20751"	"WDFY3"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20751"	"WDFY3"	"MONDO:0005258"	"Autism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-29 19:03:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69228"	"2021-09-28"
"GENCC_000101-HGNC_20751-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:20751"	"WDFY3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20751"	"WDFY3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-09-09 19:03:47"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"692285"	"2021-09-28"
"GENCC_000101-HGNC_13831-OMIM_614858-HP_0000006-GENCC_100003"	"HGNC:13831"	"WDR11"	"MONDO:0013926"	"hypogonadotropic hypogonadism 14 with or without anosmia"	"OMIM:614858"	"Hypogonadotropic hypogonadism 14 with or without anosmia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13831"	"WDR11"	"OMIM:614858"	"Hypogonadotropic hypogonadism 14 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-02-01 19:03:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77484"	"2021-09-28"
"GENCC_000101-HGNC_14352-MONDO_0001071-HP_0001417-GENCC_100004"	"HGNC:14352"	"WDR13"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14352"	"WDR13"	"MONDO:0001071"	"intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-07-10 19:03:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"10409"	"2021-09-28"
"GENCC_000101-HGNC_31406-OMIM_618652-HP_0000006-GENCC_100004"	"HGNC:31406"	"WDR37"	"MONDO:0032850"	"neurooculocardiogenitourinary syndrome"	"OMIM:618652"	"Neurooculocardiogenitourinary syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31406"	"WDR37"	"OMIM:618652"	"Neurooculocardiogenitourinary syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-09-09 19:03:48"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"66550"	"2021-09-28"
"GENCC_000101-HGNC_12756-OMIM_618346-HP_0000007-GENCC_100003"	"HGNC:12756"	"WDR4"	"MONDO:0032690"	"microcephaly, growth deficiency, seizures, and brain malformations"	"OMIM:618346"	"Microcephaly, growth deficiency, seizures, and brain malformations"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12756"	"WDR4"	"OMIM:618346"	"Microcephaly, growth deficiency, seizures, and brain malformations"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-28 19:03:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82457"	"2021-09-28"
"GENCC_000101-HGNC_28912-OMIM_300894-HP_0001417-GENCC_100003"	"HGNC:28912"	"WDR45"	"MONDO:0010476"	"neurodegeneration with brain iron accumulation 5"	"OMIM:300894"	"Neurodegeneration with brain iron accumulation 5"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28912"	"WDR45"	"OMIM:300894"	"Neurodegeneration with brain iron accumulation 5"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-17 19:03:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88876"	"2021-09-28"
"GENCC_000101-HGNC_24502-OMIM_604317-HP_0000007-GENCC_100002"	"HGNC:24502"	"WDR62"	"MONDO:0011435"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"OMIM:604317"	"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24502"	"WDR62"	"OMIM:604317"	"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-26 19:03:49"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"650029"	"2021-09-28"
"GENCC_000101-HGNC_26790-OMIM_613211-HP_0000007-GENCC_100003"	"HGNC:26790"	"WDR72"	"MONDO:0013181"	"amelogenesis imperfecta hypomaturation type 2A3"	"OMIM:613211"	"Amelogenesis imperfecta, type IIA3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26790"	"WDR72"	"OMIM:613211"	"Amelogenesis imperfecta, type IIA3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-05-03 19:03:50"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"671410"	"2021-09-28"
"GENCC_000101-HGNC_26790-MONDO_0001909-HP_0000007-GENCC_100004"	"HGNC:26790"	"WDR72"	"MONDO:0001909"	"renal tubular acidosis"	"MONDO:0001909"	"renal tubular acidosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26790"	"WDR72"	"MONDO:0001909"	"AR distal renal tubular acidosis (dRTA)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-07-31 19:03:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6714105"	"2021-09-28"
"GENCC_000101-HGNC_26924-MONDO_0005258-HP_0000007-GENCC_100004"	"HGNC:26924"	"WDR93"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26924"	"WDR93"	"MONDO:0005258"	"Autism spectrum disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"71310"	"2021-09-28"
"GENCC_000101-HGNC_19684-OMIM_617996-HP_0000007-GENCC_100004"	"HGNC:19684"	"WEE2"	"MONDO:0020837"	"oocyte maturation defect 5"	"OMIM:617996"	"Oocyte/zygote/embryo maturation arrest 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19684"	"WEE2"	"OMIM:617996"	"Oocyte maturation defect 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-04-06 19:03:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"030778"	"2021-09-28"
"GENCC_000101-HGNC_16361-OMIM_611383-HP_0000007-GENCC_100003"	"HGNC:16361"	"WHRN"	"MONDO:0012662"	"Usher syndrome type 2D"	"OMIM:611383"	"Usher syndrome, type 2D"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16361"	"WHRN"	"OMIM:611383"	"Usher syndrome, type 2D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:03:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"67518"	"2021-09-28"
"GENCC_000101-HGNC_16361-OMIM_607084-HP_0000007-GENCC_100003"	"HGNC:16361"	"WHRN"	"MONDO:0011767"	"autosomal recessive nonsyndromic hearing loss 31"	"OMIM:607084"	"Deafness, autosomal recessive 31"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16361"	"WHRN"	"OMIM:607084"	"Deafness, autosomal recessive 31"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:03:51"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"675186"	"2021-09-28"
"GENCC_000101-HGNC_32225-OMIM_618453-HP_0000007-GENCC_100004"	"HGNC:32225"	"WIPI2"	"MONDO:0032759"	"intellectual developmental disorder with short stature and variable skeletal anomalies"	"OMIM:618453"	"?Intellectual developmental disorder with short stature and variable skeletal anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32225"	"WIPI2"	"OMIM:618453"	"Intellectual developmental disorder with short stature and variable skeletal anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-04-12 19:03:52"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"61822"	"2021-09-28"
"GENCC_000101-HGNC_14540-OMIM_201300-HP_0000007-GENCC_100002"	"HGNC:14540"	"WNK1"	"MONDO:0024309"	"neuropathy, hereditary sensory and autonomic, type 2A"	"OMIM:201300"	"Neuropathy, hereditary sensory and autonomic, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14540"	"WNK1"	"OMIM:201300"	"Neuropathy, hereditary sensory and autonomic, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-05-01 19:03:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"17867"	"2021-09-28"
"GENCC_000101-HGNC_14540-OMIM_614492-HP_0000006-GENCC_100003"	"HGNC:14540"	"WNK1"	"MONDO:0013778"	"pseudohypoaldosteronism type 2C"	"OMIM:614492"	"Pseudohypoaldosteronism, type IIC"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14540"	"WNK1"	"OMIM:614492"	"Pseudohypoaldosteronism, type IIC"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-08-21 19:03:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"178676"	"2021-09-28"
"GENCC_000101-HGNC_12775-OMIM_225300-HP_0000007-GENCC_100003"	"HGNC:12775"	"WNT10B"	"MONDO:0009157"	"split hand-foot malformation 6"	"OMIM:225300"	"Split-hand/foot malformation 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12775"	"WNT10B"	"OMIM:225300"	"Split-hand/foot malformation 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-29 19:03:53"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4052"	"2021-09-28"
"GENCC_000101-HGNC_12775-OMIM_617073-HP_0000006-GENCC_100003"	"HGNC:12775"	"WNT10B"	"MONDO:0014901"	"tooth agenesis, selective, 8"	"OMIM:617073"	"Tooth agenesis, selective, 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12775"	"WNT10B"	"OMIM:617073"	"Tooth agenesis, selective, 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-29 19:03:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"40526"	"2021-09-28"
"GENCC_000101-HGNC_25522-OMIM_613988-HP_0000007-GENCC_100003"	"HGNC:25522"	"WRAP53"	"MONDO:0013520"	"dyskeratosis congenita, autosomal recessive 3"	"OMIM:613988"	"Dyskeratosis congenita, autosomal recessive 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25522"	"WRAP53"	"OMIM:613988"	"Dyskeratosis congenita, autosomal recessive 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-05-24 19:03:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77897"	"2021-09-28"
"GENCC_000101-HGNC_12791-OMIM_277700-HP_0000007-GENCC_100001"	"HGNC:12791"	"WRN"	"MONDO:0010196"	"Werner syndrome"	"OMIM:277700"	"Werner syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12791"	"WRN"	"OMIM:277700"	"Werner syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:03:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4051"	"2021-09-28"
"GENCC_000101-HGNC_12799-OMIM_614322-HP_0000007-GENCC_100003"	"HGNC:12799"	"WWOX"	"MONDO:0013687"	"autosomal recessive spinocerebellar ataxia 12"	"OMIM:614322"	"Spinocerebellar ataxia, autosomal recessive 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12799"	"WWOX"	"OMIM:614322"	"Spinocerebellar ataxia, autosomal recessive 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-04 19:03:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78408"	"2021-09-28"
"GENCC_000101-HGNC_12799-OMIM_616211-HP_0000007-GENCC_100003"	"HGNC:12799"	"WWOX"	"MONDO:0014533"	"developmental and epileptic encephalopathy, 28"	"OMIM:616211"	"Developmental and epileptic encephalopathy 28"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12799"	"WWOX"	"OMIM:616211"	"Developmental and epileptic encephalopathy 28"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-06-04 19:03:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"784086"	"2021-09-28"
"GENCC_000101-HGNC_14108-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:14108"	"XPO7"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14108"	"XPO7"	"MONDO:0008315"	"PROSTATE CANCER"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-21 19:03:54"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69293"	"2021-09-28"
"GENCC_000101-HGNC_12828-MONDO_0005627-HP_0000006-GENCC_100004"	"HGNC:12828"	"XRCC1"	"MONDO:0005627"	"head and neck cancer"	"MONDO:0005627"	"head and neck cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12828"	"XRCC1"	"MONDO:0005627"	"head and neck cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:55"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4787"	"2021-09-28"
"GENCC_000101-HGNC_12829-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:12829"	"XRCC2"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12829"	"XRCC2"	"MONDO:0007254"	"breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2021-07-23 19:03:55"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"47816"	"2021-09-28"
"GENCC_000101-HGNC_12829-OMIM_617247-HP_0000007-GENCC_100003"	"HGNC:12829"	"XRCC2"	"MONDO:0014987"	"Fanconi anemia complementation group U"	"OMIM:617247"	"?Fanconi anemia, complementation group U"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12829"	"XRCC2"	"OMIM:617247"	"Fanconi anemia, complementation group U"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-07-23 19:03:55"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4781"	"2021-09-28"
"GENCC_000101-HGNC_4055-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:4055"	"XRCC6"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4055"	"XRCC6"	"MONDO:0005258"	"AUTISM"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-30 19:03:55"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6704"	"2021-09-28"
"GENCC_000101-HGNC_24249-OMIM_613561-HP_0000007-GENCC_100003"	"HGNC:24249"	"YARS2"	"MONDO:0013307"	"myopathy, lactic acidosis, and sideroblastic anemia 2"	"OMIM:613561"	"Myopathy, lactic acidosis, and sideroblastic anemia 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24249"	"YARS2"	"OMIM:613561"	"Myopathy, lactic acidosis, and sideroblastic anemia 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-31 19:03:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78214"	"2021-09-28"
"GENCC_000101-HGNC_30511-OMIM_619125-HP_0000007-GENCC_100003"	"HGNC:30511"	"YIF1B"	"MONDO:0030878"	"Kaya-Barakat-Masson syndrome"	"OMIM:619125"	"Kaya-Barakat-Masson syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30511"	"YIF1B"	"OMIM:619125"	"YIF1B-related neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-02-14 19:03:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"32766"	"2021-09-28"
"GENCC_000101-HGNC_30626-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:30626"	"YTHDC1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30626"	"YTHDC1"	"MONDO:0005258"	"Autism/ Schizophrenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"38401"	"2021-09-28"
"GENCC_000101-HGNC_12852-OMIM_617665-HP_0000006-GENCC_100002"	"HGNC:12852"	"YWHAG"	"MONDO:0033365"	"developmental and epileptic encephalopathy, 56"	"OMIM:617665"	"Developmental and epileptic encephalopathy 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12852"	"YWHAG"	"OMIM:617665"	"Developmental and epileptic encephalopathy 56"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-07 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11893"	"2025-01-17"
"GENCC_000101-HGNC_30935-OMIM_602531-HP_0000007-GENCC_100003"	"HGNC:30935"	"YY1AP1"	"MONDO:0011243"	"grange syndrome"	"OMIM:602531"	"Grange syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30935"	"YY1AP1"	"OMIM:602531"	"Grange syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-10-22 19:03:56"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77603"	"2021-09-28"
"GENCC_000101-HGNC_16740-OMIM_618383-HP_0000007-GENCC_100004"	"HGNC:16740"	"ZBTB11"	"MONDO:0032715"	"intellectual developmental disorder, autosomal recessive 69"	"OMIM:618383"	"Intellectual developmental disorder, autosomal recessive 69"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16740"	"ZBTB11"	"OMIM:618383"	"Intellectual developmental disorder, autosomal recessive 69"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17558"	"2023-08-19"
"GENCC_000101-HGNC_12930-OMIM_612447-HP_0000007-GENCC_100004"	"HGNC:12930"	"ZBTB16"	"MONDO:0012909"	"skeletal defects, genital hypoplasia, and intellectual disability"	"OMIM:612447"	"OMIM:612447"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12930"	"ZBTB16"	"OMIM:612447"	"Skeletal defects, genital hypoplasia, and mental retardation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-06-20 19:03:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4420"	"2021-09-28"
"GENCC_000101-HGNC_26955-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:26955"	"ZBTB47"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26955"	"ZBTB47"	"MONDO:0100038"	"NEURODEVELOPMENTAL DISORDER"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-12-04 19:03:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"36333"	"2021-09-28"
"GENCC_000101-HGNC_18078-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:18078"	"ZBTB7A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18078"	"ZBTB7A"	"MONDO:0100038"	"ZBTB7A-related neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-09-21 19:03:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78908"	"2021-09-28"
"GENCC_000101-HGNC_17407-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:17407"	"ZC3H12B"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17407"	"ZC3H12B"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-10-17 19:03:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"902770"	"2021-09-28"
"GENCC_000101-HGNC_20509-OMIM_617125-HP_0000006-GENCC_100004"	"HGNC:20509"	"ZC3H14"	"MONDO:0014930"	"intellectual disability, autosomal recessive 56"	"OMIM:617125"	"Intellectual developmental disorder, autosomal recessive 56"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20509"	"ZC3H14"	"OMIM:617125"	"Mental retardation, autosomal recessive 56"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:57"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43556"	"2021-09-28"
"GENCC_000101-HGNC_24931-OMIM_314580-HP_0001417-GENCC_100001"	"HGNC:24931"	"ZC4H2"	"MONDO:0010758"	"Wieacker-Wolff syndrome"	"OMIM:314580"	"Wieacker-Wolff syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24931"	"ZC4H2"	"OMIM:314580"	"Wieacker-Wolff syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-18 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67980"	"2024-01-02"
"GENCC_000101-HGNC_25265-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:25265"	"ZCCHC8"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25265"	"ZCCHC8"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:03:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77731"	"2021-09-28"
"GENCC_000101-HGNC_29313-MONDO_0008182-HP_0000006-GENCC_100004"	"HGNC:29313"	"ZDBF2"	"MONDO:0008182"	"nasopalpebral lipoma-coloboma syndrome"	"MONDO:0008182"	"nasopalpebral lipoma-coloboma syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29313"	"ZDBF2"	"MONDO:0008182"	"Nasopalpebral Lipoma-coloboma syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-02 19:03:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74159"	"2021-09-28"
"GENCC_000101-HGNC_20152-OMIM_147430-HP_0000006-GENCC_100004"	"HGNC:20152"	"ZFHX2"	"MONDO:0007828"	"indifference to pain, congenital, autosomal dominant"	"OMIM:147430"	"?Marsili syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20152"	"ZFHX2"	"OMIM:147430"	"Marsili syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:03:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"57001"	"2021-09-28"
"GENCC_000101-HGNC_16700-OMIM_187500-HP_0000006-GENCC_100002"	"HGNC:16700"	"ZFPM2"	"MONDO:0008542"	"tetralogy of fallot"	"OMIM:187500"	"Tetralogy of Fallot"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16700"	"ZFPM2"	"OMIM:187500"	"Tetralogy of Fallot"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2018-02-28 19:03:58"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69080"	"2021-09-28"
"GENCC_000101-HGNC_17277-MONDO_0019064-HP_0000007-GENCC_100004"	"HGNC:17277"	"ZFR"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17277"	"ZFR"	"MONDO:0019064"	"hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-13 19:03:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78119"	"2021-09-28"
"GENCC_000101-HGNC_12873-OMIM_609637-HP_0000006-GENCC_100001"	"HGNC:12873"	"ZIC2"	"MONDO:0012322"	"holoprosencephaly 5"	"OMIM:609637"	"Holoprosencephaly 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12873"	"ZIC2"	"OMIM:609637"	"Holoprosencephaly 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-08-31 19:03:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4701"	"2021-09-28"
"GENCC_000101-HGNC_12874-OMIM_306955-HP_0001417-GENCC_100003"	"HGNC:12874"	"ZIC3"	"MONDO:0010607"	"heterotaxy, visceral, 1, X-linked"	"OMIM:306955"	"Heterotaxy, visceral, 1, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12874"	"ZIC3"	"OMIM:306955"	"Congenital heart defects, nonsyndromic, 1, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:03:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4704"	"2021-09-28"
"GENCC_000101-HGNC_12874-OMIM_314390-HP_0001417-GENCC_100003"	"HGNC:12874"	"ZIC3"	"MONDO:0010752"	"VACTERL association, X-linked, with or without hydrocephalus"	"OMIM:314390"	"VACTERL association, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12874"	"ZIC3"	"OMIM:314390"	"VACTERL association, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 19:03:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"47047"	"2021-09-28"
"GENCC_000101-HGNC_26433-MONDO_0017985-HP_0000006-GENCC_100004"	"HGNC:26433"	"ZMAT2"	"MONDO:0017985"	"congenital radioulnar synostosis"	"MONDO:0017985"	"congenital radioulnar synostosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26433"	"ZMAT2"	"MONDO:0017985"	"Congenital radioulnar synostosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-04-14 19:03:59"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"879764"	"2021-09-28"
"GENCC_000101-HGNC_16493-OMIM_618659-HP_0000006-GENCC_100003"	"HGNC:16493"	"ZMIZ1"	"MONDO:0032855"	"neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	"OMIM:618659"	"Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16493"	"ZMIZ1"	"OMIM:618659"	"Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2019-01-18 19:04:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74845"	"2021-09-28"
"GENCC_000101-HGNC_12989-MONDO_0019719-HP_0000006-GENCC_100003"	"HGNC:12989"	"ZMYM2"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12989"	"ZMYM2"	"MONDO:0019719"	"ZMYM2-related congenital anomalies of the kidney and urinary tract (CAKUT)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-10-02 19:04:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4472"	"2021-09-28"
"GENCC_000101-HGNC_13054-MONDO_0001071-HP_0001417-GENCC_100004"	"HGNC:13054"	"ZMYM3"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13054"	"ZMYM3"	"MONDO:0001071"	"Intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-22 19:04:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3629"	"2021-09-28"
"GENCC_000101-HGNC_13029-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:13029"	"ZMYM5"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13029"	"ZMYM5"	"MONDO:0019042"	"AR global DD, dysmorphic features, bone lytic lesions, anhidrosis, microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3627"	"2021-09-28"
"GENCC_000101-HGNC_13050-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:13050"	"ZMYM6"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13050"	"ZMYM6"	"MONDO:0001071"	"Intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:00"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3620"	"2021-09-28"
"GENCC_000101-HGNC_16966-OMIM_616083-HP_0000006-GENCC_100002"	"HGNC:16966"	"ZMYND11"	"MONDO:0014486"	"intellectual disability, autosomal dominant 30"	"OMIM:616083"	"Intellectual developmental disorder, autosomal dominant 30"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16966"	"ZMYND11"	"OMIM:616083"	"Mental retardation, autosomal dominant 30"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2020-02-26 19:04:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82448"	"2021-09-28"
"GENCC_000101-HGNC_9397-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:9397"	"ZMYND8"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9397"	"ZMYND8"	"MONDO:0005258"	"Autism Spectrum Disorder/Neurodev disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2019-01-04 19:04:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69189"	"2021-09-28"
"GENCC_000101-HGNC_13011-MONDO_0021129-HP_0000007-GENCC_100004"	"HGNC:13011"	"ZNF219"	"MONDO:0021129"	"microphthalmia"	"MONDO:0021129"	"microphthalmia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13011"	"ZNF219"	"MONDO:0021129"	"micropthalmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-02-22 19:04:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78666"	"2021-09-28"
"GENCC_000101-HGNC_18410-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:18410"	"ZNF292"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18410"	"ZNF292"	"MONDO:0100038"	"AD neurodevelopmental disability, behavioral problems, and autism spectrum disorders (ASD)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-06-10 19:04:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69291"	"2021-09-28"
"GENCC_000101-HGNC_15807-OMIM_615095-HP_0000007-GENCC_100003"	"HGNC:15807"	"ZNF335"	"MONDO:0014043"	"microcephalic primordial dwarfism due to ZNF335 deficiency"	"OMIM:615095"	"Microcephaly 10, primary, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15807"	"ZNF335"	"OMIM:615095"	"Microcephaly 10, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-30 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17511"	"2025-01-17"
"GENCC_000101-HGNC_19904-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:19904"	"ZNF407"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19904"	"ZNF407"	"MONDO:0001071"	"MONDO:0001071"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77165"	"2021-09-28"
"GENCC_000101-HGNC_19904-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:19904"	"ZNF407"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19904"	"ZNF407"	"MONDO:0100038"	"ZNF407-related neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-07 19:04:01"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"771657"	"2021-09-28"
"GENCC_000101-HGNC_20041-OMIM_616468-HP_0000006-GENCC_100004"	"HGNC:20041"	"ZNF408"	"MONDO:0014652"	"exudative vitreoretinopathy 6"	"OMIM:616468"	"?Exudative vitreoretinopathy 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20041"	"ZNF408"	"OMIM:616468"	"Exudative vitreoretinopathy 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-01-05 19:04:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"434341"	"2021-09-28"
"GENCC_000101-HGNC_20041-OMIM_616469-HP_0000007-GENCC_100003"	"HGNC:20041"	"ZNF408"	"MONDO:0014653"	"retinitis pigmentosa 72"	"OMIM:616469"	"Retinitis pigmentosa 72"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20041"	"ZNF408"	"OMIM:616469"	"Retinitis pigmentosa 72"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-01-05 19:04:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43434"	"2021-09-28"
"GENCC_000101-HGNC_16762-OMIM_614844-HP_0000007-GENCC_100004"	"HGNC:16762"	"ZNF423"	"MONDO:0013916"	"nephronophthisis 14"	"OMIM:614844"	"Joubert syndrome 19"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16762"	"ZNF423"	"OMIM:614844"	"Joubert syndrome 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61325"	"2023-08-19"
"GENCC_000101-HGNC_21684-OMIM_618619-HP_0000006-GENCC_100003"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"OMIM:618619"	"Weiss-Kruszka syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21684"	"ZNF462"	"OMIM:618619"	"Weiss-Kruszka syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-01-16 19:04:02"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"75033"	"2021-09-28"
"GENCC_000101-HGNC_16747-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:16747"	"ZNF589"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16747"	"ZNF589"	"MONDO:0100038"	"Neurodev"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-10-22 19:04:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78957"	"2021-09-28"
"GENCC_000101-HGNC_25879-MONDO_0019100-HP_0000006-GENCC_100004"	"HGNC:25879"	"ZNF606"	"MONDO:0019100"	"neuromyelitis optica"	"MONDO:0019100"	"neuromyelitis optica"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25879"	"ZNF606"	"MONDO:0019100"	"neuromyelitis optica (NMO)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"52237"	"2021-09-28"
"GENCC_000101-HGNC_17625-MONDO_0001071-HP_0001417-GENCC_100005"	"HGNC:17625"	"ZNF674"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17625"	"ZNF674"	"MONDO:0001071"	""	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2018-08-31 19:04:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"108993"	"2021-09-28"
"GENCC_000101-HGNC_12309-OMIM_260565-HP_0000007-GENCC_100003"	"HGNC:12309"	"ZNHIT3"	"MONDO:0009841"	"PEHO syndrome"	"OMIM:260565"	"PEHO syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12309"	"ZNHIT3"	"OMIM:260565"	"PEHO syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-07-16 19:04:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3961"	"2021-09-28"
"GENCC_000101-HGNC_13187-OMIM_615774-HP_0000007-GENCC_100003"	"HGNC:13187"	"ZP1"	"MONDO:0014342"	"female infertility due to zona pellucida defect"	"OMIM:615774"	"Oocyte/zygote/embryo maturation arrest 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13187"	"ZP1"	"OMIM:615774"	"Oocyte maturation defect 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2020-04-14 19:04:03"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"66384"	"2021-09-28"
"GENCC_000101-HGNC_26993-MONDO_0005484-HP_0000005-GENCC_100004"	"HGNC:26993"	"ZSWIM7"	"MONDO:0005484"	"colorectal adenoma"	"MONDO:0005484"	"colorectal adenoma"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26993"	"ZSWIM7"	"MONDO:0005484"	"colorectal adenomatous polyposis"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:04"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"867872"	"2021-09-28"
"GENCC_000101-HGNC_25468-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:25468"	"ZWILCH"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25468"	"ZWILCH"	"MONDO:0005258"	"AUTISM"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77277"	"2021-09-28"
"GENCC_000101-HGNC_25820-MONDO_0019042-HP_0000006-GENCC_100004"	"HGNC:25820"	"ZYG11B"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25820"	"ZYG11B"	"MONDO:0019042"	"ZYG11B-related Oculo-Auriculo-Vertebral spectrum disorder."	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2020-08-07 19:04:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43133"	"2021-09-28"
"GENCC_000101-HGNC_15886-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:15886"	"AAR2"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15886"	"AAR2"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"67352"	"2021-09-28"
"GENCC_000101-HGNC_45-MONDO_0004982-HP_0000006-GENCC_100004"	"HGNC:45"	"ABCB4"	"MONDO:0004982"	"pancreatitis"	"MONDO:0004982"	"pancreatitis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:45"	"ABCB4"	"MONDO:0004982"	"pancreatitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-31 19:04:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7600"	"2021-09-28"
"GENCC_000101-HGNC_23339-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:23339"	"ACBD6"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23339"	"ACBD6"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50962"	"2021-09-28"
"GENCC_000101-HGNC_19288-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:19288"	"ACMSD"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19288"	"ACMSD"	"MONDO:0005027"	"Epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-19 19:04:05"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"892289"	"2021-09-28"
"GENCC_000101-HGNC_161-MONDO_0005372-HP_0000007-GENCC_100004"	"HGNC:161"	"ACTL7A"	"MONDO:0005372"	"male infertility"	"MONDO:0005372"	"male infertility"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:161"	"ACTL7A"	"MONDO:0005372"	"male infertility"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-10-02 19:04:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82558"	"2021-09-28"
"GENCC_000101-HGNC_172-MONDO_0009831-HP_0000005-GENCC_100008"	"HGNC:172"	"ACVR1B"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:172"	"ACVR1B"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Other"	"GENCC:100008"	"No Known Disease Relationship"	"2018-09-20 19:04:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"38"	"2021-09-28"
"GENCC_000101-HGNC_199-MONDO_0005372-HP_0000006-GENCC_100004"	"HGNC:199"	"ADAM20"	"MONDO:0005372"	"male infertility"	"MONDO:0005372"	"male infertility"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:199"	"ADAM20"	"MONDO:0005372"	"male infertility"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-02-12 19:04:06"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5405"	"2021-09-28"
"GENCC_000101-HGNC_217-MONDO_0008312-HP_0000006-GENCC_100004"	"HGNC:217"	"ADAMTS1"	"MONDO:0008312"	"autosomal dominant prognathism"	"MONDO:0008312"	"autosomal dominant prognathism"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:217"	"ADAMTS1"	"MONDO:0008312"	"autosomal dominant prognathism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3782"	"2021-09-28"
"GENCC_000101-HGNC_14631-MONDO_0020066-HP_0000006-GENCC_100004"	"HGNC:14631"	"ADAMTSL2"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14631"	"ADAMTSL2"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-05-04 19:04:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3483"	"2021-09-28"
"GENCC_000101-HGNC_18992-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:18992"	"ADGRG4"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18992"	"ADGRG4"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-22 19:04:07"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"893945"	"2021-09-28"
"GENCC_000101-HGNC_13841-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:13841"	"ADGRG6"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13841"	"ADGRG6"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-02-14 19:04:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74688"	"2021-09-28"
"GENCC_000101-HGNC_281-MONDO_0006573-HP_0000006-GENCC_100004"	"HGNC:281"	"ADRA2A"	"MONDO:0006573"	"lipodystrophy"	"MONDO:0006573"	"lipodystrophy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:281"	"ADRA2A"	"MONDO:0006573"	"lipodystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"872"	"2021-09-28"
"GENCC_000101-HGNC_26296-MONDO_0005027-HP_0000007-GENCC_100004"	"HGNC:26296"	"AGBL2"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26296"	"AGBL2"	"MONDO:0005027"	"Epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43508"	"2021-09-28"
"GENCC_000101-HGNC_33784-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:33784"	"AGMO"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:33784"	"AGMO"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-09-05 19:04:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"936191"	"2021-09-28"
"GENCC_000101-HGNC_21575-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:21575"	"AHI1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21575"	"AHI1"	"MONDO:0019200"	"RP"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-05-04 19:04:08"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70521"	"2021-09-28"
"GENCC_000101-HGNC_20125-MONDO_0015626-HP_0000007-GENCC_100004"	"HGNC:20125"	"AHNAK2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20125"	"AHNAK2"	"MONDO:0015626"	"Charcot Marie Tooth"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-05-15 19:04:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"889801"	"2021-09-28"
"GENCC_000101-HGNC_348-MONDO_0044203-HP_0000007-GENCC_100004"	"HGNC:348"	"AHR"	"MONDO:0044203"	"foveal hypoplasia"	"MONDO:0044203"	"foveal hypoplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:348"	"AHR"	"MONDO:0044203"	"foveal hypoplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-05-15 19:04:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"831"	"2021-09-28"
"GENCC_000101-HGNC_20091-MONDO_0016575-HP_0000007-GENCC_100004"	"HGNC:20091"	"AK7"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20091"	"AK7"	"MONDO:0016575"	"Primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-03-22 19:04:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"866058"	"2021-09-28"
"GENCC_000101-HGNC_407-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:407"	"ALDH1B1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:407"	"ALDH1B1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-19 19:04:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"683"	"2021-09-28"
"GENCC_000101-HGNC_417-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:417"	"ALDOB"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:417"	"ALDOB"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-05-04 19:04:09"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"663"	"2021-09-28"
"GENCC_000101-HGNC_433-MONDO_0000144-HP_0000007-GENCC_100004"	"HGNC:433"	"ALOX15"	"MONDO:0000144"	"pregnancy loss, recurrent, susceptibility"	"MONDO:0000144"	"pregnancy loss, recurrent, susceptibility"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:433"	"ALOX15"	"MONDO:0000144"	"pregnancy loss, recurrent, susceptibility"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:10"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"601"	"2021-09-28"
"GENCC_000101-HGNC_24073-MONDO_0015397-HP_0000006-GENCC_100004"	"HGNC:24073"	"AMIGO2"	"MONDO:0015397"	"craniofacial microsomia"	"MONDO:0015397"	"craniofacial microsomia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24073"	"AMIGO2"	"MONDO:0015397"	"oculo-auriculo-vertebral spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-05-17 19:04:10"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"904326"	"2021-09-28"
"GENCC_000101-HGNC_484-MONDO_0005041-HP_0000006-GENCC_100003"	"HGNC:484"	"ANGPT1"	"MONDO:0005041"	"glaucoma"	"MONDO:0005041"	"glaucoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:484"	"ANGPT1"	"MONDO:0005041"	"glaucoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2018-10-05 19:04:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"650"	"2021-09-28"
"GENCC_000101-HGNC_494-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:494"	"ANK3"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:494"	"ANK3"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-07-02 19:04:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"655"	"2021-09-28"
"GENCC_000101-HGNC_32525-MONDO_0005306-HP_0000006-GENCC_100004"	"HGNC:32525"	"ANKDD1B"	"MONDO:0005306"	"ankylosing spondylitis"	"MONDO:0005306"	"ankylosing spondylitis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32525"	"ANKDD1B"	"MONDO:0005306"	"ankylosing spondylitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-07-09 19:04:11"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"465452"	"2021-09-28"
"GENCC_000101-HGNC_21316-MONDO_0000119-HP_0000006-GENCC_100004"	"HGNC:21316"	"ANKRD11"	"MONDO:0000119"	"congenital heart defects, multiple types"	"MONDO:0000119"	"congenital heart defects, multiple types"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21316"	"ANKRD11"	"MONDO:0000119"	"congenital heart defects, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-14 19:04:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"63869"	"2021-09-28"
"GENCC_000101-HGNC_24600-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:24600"	"ANKS1B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24600"	"ANKS1B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-21 19:04:12"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"71533"	"2021-09-28"
"GENCC_000101-HGNC_29422-MONDO_0010991-HP_0000007-GENCC_100004"	"HGNC:29422"	"ANKS3"	"MONDO:0010991"	"laterality defects, autosomal dominant"	"MONDO:0010991"	"laterality defects, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29422"	"ANKS3"	"MONDO:0010991"	"laterality defects, autosomal dominant"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"860028"	"2021-09-28"
"GENCC_000101-HGNC_560-MONDO_0005258-HP_0001417-GENCC_100004"	"HGNC:560"	"AP1S2"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:560"	"AP1S2"	"MONDO:0005258"	"Austism"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-14 19:04:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5327"	"2021-09-28"
"GENCC_000101-HGNC_565-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:565"	"AP2S1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:565"	"AP2S1"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-01-03 19:04:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8847"	"2021-09-28"
"GENCC_000101-HGNC_576-MONDO_0002050-HP_0000006-GENCC_100004"	"HGNC:576"	"APAF1"	"MONDO:0002050"	"depressive disorder"	"MONDO:0002050"	"depressive disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:576"	"APAF1"	"MONDO:0002050"	"depressive disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"984"	"2021-09-28"
"GENCC_000101-HGNC_579-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:579"	"APBA2"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:579"	"APBA2"	"MONDO:0005027"	"Epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-22 19:04:13"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"968"	"2021-09-28"
"GENCC_000101-HGNC_587-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:587"	"APEX1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:587"	"APEX1"	"MONDO:0004976"	"AD Amyotrophic Lateral Sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-23 19:04:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"965"	"2021-09-28"
"GENCC_000101-HGNC_28727-MONDO_0044970-HP_0001417-GENCC_100004"	"HGNC:28727"	"APOO"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28727"	"APOO"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-05-29 19:04:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43897"	"2021-09-28"
"GENCC_000101-HGNC_633-MONDO_0015924-HP_0000006-GENCC_100004"	"HGNC:633"	"AQP1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:633"	"AQP1"	"MONDO:0015924"	"Pulmonary Arterial Hypertension"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-11-30 19:04:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"975"	"2021-09-28"
"GENCC_000101-HGNC_637-MONDO_0019100-HP_0000005-GENCC_100004"	"HGNC:637"	"AQP4"	"MONDO:0019100"	"neuromyelitis optica"	"MONDO:0019100"	"neuromyelitis optica"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:637"	"AQP4"	"MONDO:0019100"	"Neuromyelitis optica"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-02-21 19:04:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"918"	"2021-09-28"
"GENCC_000101-HGNC_637-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:637"	"AQP4"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:637"	"AQP4"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-02-21 19:04:14"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"918"	"2021-09-28"
"GENCC_000101-HGNC_646-MONDO_0015408-HP_0000006-GENCC_100004"	"HGNC:646"	"ARAF"	"MONDO:0015408"	"diffuse lymphatic malformation"	"MONDO:0015408"	"diffuse lymphatic malformation"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:646"	"ARAF"	"MONDO:0015408"	""	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-01-02 19:04:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"913"	"2021-09-28"
"GENCC_000101-HGNC_23085-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:23085"	"ARHGAP33"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23085"	"ARHGAP33"	"MONDO:0100038"	"diffuse lymphatic malformation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"887429"	"2021-09-28"
"GENCC_000101-HGNC_674-MONDO_0001071-HP_0001417-GENCC_100004"	"HGNC:674"	"ARHGAP4"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:674"	"ARHGAP4"	"MONDO:0001071"	"intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:15"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"939"	"2021-09-28"
"GENCC_000101-HGNC_14103-MONDO_0005244-HP_0000006-GENCC_100004"	"HGNC:14103"	"ARHGEF10"	"MONDO:0005244"	"peripheral neuropathy"	"MONDO:0005244"	"peripheral neuropathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14103"	"ARHGEF10"	"MONDO:0005244"	"Peripheral neuropathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-10-31 19:04:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3193"	"2021-09-28"
"GENCC_000101-HGNC_15590-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:15590"	"ARHGEF15"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15590"	"ARHGEF15"	"MONDO:0100062"	"Developmental encepholpathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"66533"	"2021-09-28"
"GENCC_000101-HGNC_25968-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:25968"	"ARHGEF38"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25968"	"ARHGEF38"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"70505"	"2021-09-28"
"GENCC_000101-HGNC_685-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:685"	"ARHGEF6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:685"	"ARHGEF6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-21 19:04:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3073"	"2021-09-28"
"GENCC_000101-HGNC_19769-MONDO_0000119-HP_0000006-GENCC_100004"	"HGNC:19769"	"ASB17"	"MONDO:0000119"	"congenital heart defects, multiple types"	"MONDO:0000119"	"congenital heart defects, multiple types"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19769"	"ASB17"	"MONDO:0000119"	"congenital heart defects, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-06-12 19:04:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"864604"	"2021-09-28"
"GENCC_000101-HGNC_18697-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:18697"	"ASCC3"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18697"	"ASCC3"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-11-04 19:04:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82349"	"2021-09-28"
"GENCC_000101-HGNC_17021-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:17021"	"ASTN2"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17021"	"ASTN2"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69607"	"2021-09-28"
"GENCC_000101-HGNC_17021-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:17021"	"ASTN2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17021"	"ASTN2"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:19"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69607"	"2021-09-28"
"GENCC_000101-HGNC_20789-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:20789"	"ATG4D"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20789"	"ATG4D"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-12-04 19:04:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50348"	"2021-09-28"
"GENCC_000101-HGNC_795-MONDO_0008315-HP_0000006-GENCC_100003"	"HGNC:795"	"ATM"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:795"	"ATM"	"MONDO:0008315"	"prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-01 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"3891"	"2025-01-17"
"GENCC_000101-HGNC_801-MONDO_0000166-HP_0000006-GENCC_100003"	"HGNC:801"	"ATP1A3"	"MONDO:0000166"	"encephalopathy, acute, infection-induced"	"MONDO:0000166"	"encephalopathy, acute, infection-induced"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:801"	"ATP1A3"	"MONDO:0000166"	"encephalopathy, acute, infection-induced"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2018-08-06 19:04:20"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"045"	"2021-09-28"
"GENCC_000101-HGNC_819-MONDO_0003111-HP_0000007-GENCC_100004"	"HGNC:819"	"ATP4A"	"MONDO:0003111"	"gastric neuroendocrine neoplasm"	"MONDO:0003111"	"gastric neuroendocrine neoplasm"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:819"	"ATP4A"	"MONDO:0003111"	"gastric neuroendocrine neoplasm"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"037"	"2021-09-28"
"GENCC_000101-HGNC_865-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:865"	"ATP6V0A1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:865"	"ATP6V0A1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-06-28 19:04:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"797"	"2021-09-28"
"GENCC_000101-HGNC_855-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:855"	"ATP6V0C"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:855"	"ATP6V0C"	"MONDO:0100062"	"Developmental encepholpathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-21 19:04:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"764"	"2021-09-28"
"GENCC_000101-HGNC_18266-MONDO_0020066-HP_0000007-GENCC_100004"	"HGNC:18266"	"ATP6V0D2"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18266"	"ATP6V0D2"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-03-22 19:04:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"607346"	"2021-09-28"
"GENCC_000101-HGNC_11393-MONDO_0007254-HP_0000006-GENCC_100004"	"HGNC:11393"	"AURKA"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11393"	"AURKA"	"MONDO:0007254"	"breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1432"	"2021-09-28"
"GENCC_000101-HGNC_11393-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:11393"	"AURKA"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11393"	"AURKA"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1432"	"2021-09-28"
"GENCC_000101-HGNC_903-MONDO_0005484-HP_0000006-GENCC_100004"	"HGNC:903"	"AXIN1"	"MONDO:0005484"	"colorectal adenoma"	"MONDO:0005484"	"colorectal adenoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:903"	"AXIN1"	"MONDO:0005484"	"colorectal adenomatous polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:21"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5986"	"2021-09-28"
"GENCC_000101-HGNC_904-MONDO_0015469-HP_0000006-GENCC_100004"	"HGNC:904"	"AXIN2"	"MONDO:0015469"	"craniosynostosis"	"MONDO:0015469"	"craniosynostosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:904"	"AXIN2"	"MONDO:0015469"	"CRANIOSYNOSTOSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-10 19:04:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5989"	"2021-09-28"
"GENCC_000101-HGNC_28596-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:28596"	"B3GALNT2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28596"	"B3GALNT2"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-04 19:04:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"805453"	"2021-09-28"
"GENCC_000101-HGNC_923-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:923"	"B3GAT3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:923"	"B3GAT3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-15 19:04:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"61663"	"2021-09-28"
"GENCC_000101-HGNC_960-MONDO_0019042-HP_0000006-GENCC_100004"	"HGNC:960"	"BAZ1A"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:960"	"BAZ1A"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-21 19:04:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88844"	"2021-09-28"
"GENCC_000101-HGNC_961-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:961"	"BAZ1B"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:961"	"BAZ1B"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-21 19:04:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3298"	"2021-09-28"
"GENCC_000101-HGNC_24160-MONDO_0007296-HP_0000005-GENCC_100004"	"HGNC:24160"	"BEAN1"	"MONDO:0007296"	"spinocerebellar ataxia type 31"	"MONDO:0007296"	"spinocerebellar ataxia type 31"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24160"	"BEAN1"	"MONDO:0007296"	"Spinocerebellar ataxia 31"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:22"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"801664"	"2021-09-28"
"GENCC_000101-HGNC_35126-MONDO_0007332-HP_0000005-GENCC_100004"	"HGNC:35126"	"BHLHA9"	"MONDO:0007332"	"split-hand/foot malformation with long bone deficiency 1"	"MONDO:0007332"	"split-hand/foot malformation with long bone deficiency 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000101"	"Ambry Genetics"	"HGNC:35126"	"BHLHA9"	"MONDO:0007332"	"split-hand/foot malformation with long bone deficiency 1"	"HP:0000005"	"(Literally mode of inheritance but we map to) Unknown inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"464574"	"2021-09-28"
"GENCC_000101-HGNC_20869-MONDO_0018901-HP_0000006-GENCC_100004"	"HGNC:20869"	"BMP10"	"MONDO:0018901"	"left ventricular noncompaction"	"MONDO:0018901"	"left ventricular noncompaction"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20869"	"BMP10"	"MONDO:0018901"	"LVNC"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-07-26 19:04:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"64926"	"2021-09-28"
"GENCC_000101-HGNC_1074-MONDO_0019042-HP_0000006-GENCC_100003"	"HGNC:1074"	"BMP7"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1074"	"BMP7"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2016-02-01 19:04:23"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"177"	"2021-09-28"
"GENCC_000101-HGNC_1074-MONDO_0005345-HP_0000006-GENCC_100004"	"HGNC:1074"	"BMP7"	"MONDO:0005345"	"hypospadias"	"MONDO:0005345"	"hypospadias"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1074"	"BMP7"	"MONDO:0005345"	"Hypospadias"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-09-16 19:04:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"177"	"2021-09-28"
"GENCC_000101-HGNC_25114-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:25114"	"BOD1"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25114"	"BOD1"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-21 19:04:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"38646"	"2021-09-28"
"GENCC_000101-HGNC_17950-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:17950"	"BORCS5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17950"	"BORCS5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"885061"	"2021-09-28"
"GENCC_000101-HGNC_16503-MONDO_0012328-HP_0000006-GENCC_100004"	"HGNC:16503"	"BPIFC"	"MONDO:0012328"	"trichilemmal cyst"	"MONDO:0012328"	"trichilemmal cyst"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16503"	"BPIFC"	"MONDO:0012328"	"trichilemmal cyst"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-05-15 19:04:24"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"670602"	"2021-09-28"
"GENCC_000101-HGNC_1097-MONDO_0016684-HP_0000006-GENCC_100004"	"HGNC:1097"	"BRAF"	"MONDO:0016684"	"anaplastic astrocytoma"	"MONDO:0016684"	"anaplastic astrocytoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1097"	"BRAF"	"MONDO:0016684"	"anaplastic astrocytoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-10 19:04:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"149"	"2021-09-28"
"GENCC_000101-HGNC_24185-MONDO_0016820-HP_0000006-GENCC_100004"	"HGNC:24185"	"BRCC3"	"MONDO:0016820"	"Moyamoya disease"	"MONDO:0016820"	"Moyamoya disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24185"	"BRCC3"	"MONDO:0016820"	"Moyamoya disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43850"	"2021-09-28"
"GENCC_000101-HGNC_13575-MONDO_0019042-HP_0000006-GENCC_100004"	"HGNC:13575"	"BRD4"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13575"	"BRD4"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-03-21 19:04:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69041"	"2021-09-28"
"GENCC_000101-HGNC_11551-MONDO_0005484-HP_0000006-GENCC_100004"	"HGNC:11551"	"BRF1"	"MONDO:0005484"	"colorectal adenoma"	"MONDO:0005484"	"colorectal adenoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11551"	"BRF1"	"MONDO:0005484"	"colorectal adenomatous polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-01-15 19:04:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6346"	"2021-09-28"
"GENCC_000101-HGNC_20473-MONDO_0005484-HP_0000006-GENCC_100004"	"HGNC:20473"	"BRIP1"	"MONDO:0005484"	"colorectal adenoma"	"MONDO:0005484"	"colorectal adenoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20473"	"BRIP1"	"MONDO:0005484"	"colorectal adenomatous polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-28 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"77219"	"2025-01-17"
"GENCC_000101-HGNC_11405-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:11405"	"BRSK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11405"	"BRSK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2019-04-19 19:04:25"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3260"	"2021-09-28"
"GENCC_000101-HGNC_17342-MONDO_0007295-HP_0000006-GENCC_100004"	"HGNC:17342"	"BRWD3"	"MONDO:0007295"	"self-limited epilepsy with centrotemporal spikes"	"MONDO:0007295"	"self-limited epilepsy with centrotemporal spikes"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17342"	"BRWD3"	"MONDO:0007295"	"rolandic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"670217"	"2021-09-28"
"GENCC_000101-HGNC_17342-MONDO_0018097-HP_0000006-GENCC_100004"	"HGNC:17342"	"BRWD3"	"MONDO:0018097"	"infantile spasms"	"MONDO:0018097"	"infantile spasms"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17342"	"BRWD3"	"MONDO:0018097"	"West syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"670217"	"2021-09-28"
"GENCC_000101-HGNC_1152-MONDO_0008542-HP_0000007-GENCC_100004"	"HGNC:1152"	"POPDC1"	"MONDO:0008542"	"tetralogy of fallot"	"MONDO:0008542"	"tetralogy of fallot"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1152"	"BVES"	"MONDO:0008542"	"Tetralogy of Fallot"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88803"	"2021-09-28"
"GENCC_000101-HGNC_34455-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:34455"	"C16orf90"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:34455"	"C16orf90"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"101840"	"2021-09-28"
"GENCC_000101-HGNC_32331-MONDO_0015626-HP_0000006-GENCC_100004"	"HGNC:32331"	"CFAP276"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32331"	"C1orf194"	"MONDO:0015626"	"Charcot Marie Tooth"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-06-20 19:04:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"864229"	"2021-09-28"
"GENCC_000101-HGNC_25320-MONDO_0019100-HP_0000006-GENCC_100004"	"HGNC:25320"	"C3orf20"	"MONDO:0019100"	"neuromyelitis optica"	"MONDO:0019100"	"neuromyelitis optica"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25320"	"C3orf20"	"MONDO:0019100"	"Neuromyelitis optica"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-03-06 19:04:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50244"	"2021-09-28"
"GENCC_000101-HGNC_27026-MONDO_0019100-HP_0000006-GENCC_100004"	"HGNC:27026"	"C5orf47"	"MONDO:0019100"	"neuromyelitis optica"	"MONDO:0019100"	"neuromyelitis optica"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27026"	"C5orf47"	"MONDO:0019100"	"Neuromyelitis optica"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"899038"	"2021-09-28"
"GENCC_000101-HGNC_28337-MONDO_0020074-HP_0000006-GENCC_100004"	"HGNC:28337"	"C9orf72"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28337"	"C9orf72"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-29 19:04:26"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"629665"	"2021-09-28"
"GENCC_000101-HGNC_24187-MONDO_0021061-HP_0000006-GENCC_100004"	"HGNC:24187"	"CABIN1"	"MONDO:0021061"	"neurofibromatosis"	"MONDO:0021061"	"neurofibromatosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24187"	"CABIN1"	"MONDO:0021061"	"neurofibromatosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:27"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69769"	"2021-09-28"
"GENCC_000101-HGNC_1390-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:1390"	"CACNA1C"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1390"	"CACNA1C"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-23 19:04:27"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"447"	"2021-09-28"
"GENCC_000101-HGNC_1394-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:1394"	"CACNA1G"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1394"	"CACNA1G"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5389"	"2021-09-28"
"GENCC_000101-HGNC_1399-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:1399"	"CACNA2D1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1399"	"CACNA2D1"	"MONDO:0100062"	"Developmental encepholpathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-19 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"458"	"2021-09-28"
"GENCC_000101-HGNC_1399-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:1399"	"CACNA2D1"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1399"	"CACNA2D1"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Disputed"	"GENCC:100005"	"Disputed Evidence"	"2020-04-28 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"458"	"2021-09-28"
"GENCC_000101-HGNC_5951-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:5951"	"CADM1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5951"	"CADM1"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-04-19 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69427"	"2021-09-28"
"GENCC_000101-HGNC_1463-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:1463"	"CAMK2G"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1463"	"CAMK2G"	"MONDO:0100062"	"Developmental encepholpathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-19 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"585"	"2021-09-28"
"GENCC_000101-HGNC_13249-MONDO_0001071-HP_0000007-GENCC_100005"	"HGNC:13249"	"CAPN12"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13249"	"CAPN12"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Disputed"	"GENCC:100005"	"Disputed Evidence"	"2020-06-19 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"804315"	"2021-09-28"
"GENCC_000101-HGNC_6743-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:6743"	"CAPRIN1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6743"	"CAPRIN1"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"0241"	"2021-09-28"
"GENCC_000101-HGNC_16471-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:16471"	"CAPS2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16471"	"CAPS2"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50135"	"2021-09-28"
"GENCC_000101-HGNC_1490-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:1490"	"CAPZA2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1490"	"CAPZA2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-01 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14251"	"2025-01-17"
"GENCC_000101-HGNC_1307-MONDO_0005308-HP_0000007-GENCC_100003"	"HGNC:1307"	"CBY1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1307"	"CBY1"	"MONDO:0005308"	"Ciliopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2020-11-06 19:04:28"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"67441"	"2021-09-28"
"GENCC_000101-HGNC_26185-MONDO_0019019-HP_0000007-GENCC_100004"	"HGNC:26185"	"CCDC134"	"MONDO:0019019"	"osteogenesis imperfecta"	"MONDO:0019019"	"osteogenesis imperfecta"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26185"	"CCDC134"	"MONDO:0019019"	"OSTEOGENESIS IMPERFECTA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-03-20 19:04:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"43543"	"2021-09-28"
"GENCC_000101-HGNC_26821-MONDO_0018555-HP_0000006-GENCC_100004"	"HGNC:26821"	"CCDC141"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26821"	"CCDC141"	"MONDO:0018555"	"Hypogonadotropic Hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-08-21 19:04:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"657267"	"2021-09-28"
"GENCC_000101-HGNC_26090-MONDO_0007179-HP_0000007-GENCC_100004"	"HGNC:26090"	"CCDC40"	"MONDO:0007179"	"autoimmune disease"	"MONDO:0007179"	"autoimmune disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26090"	"CCDC40"	"MONDO:0007179"	"autoimmune disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-03-29 19:04:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77291"	"2021-09-28"
"GENCC_000101-HGNC_24855-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:24855"	"CCDC91"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24855"	"CCDC91"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77634"	"2021-09-28"
"GENCC_000101-HGNC_1591-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:1591"	"CCNF"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1591"	"CCNF"	"MONDO:0004976"	"AD Amyotrophic Lateral Sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-23 19:04:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"533"	"2021-09-28"
"GENCC_000101-HGNC_17635-MONDO_0016391-HP_0000007-GENCC_100004"	"HGNC:17635"	"CD274"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17635"	"CD274"	"MONDO:0016391"	"neonatal diabetes mellitus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"63861"	"2021-09-28"
"GENCC_000101-HGNC_1738-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:1738"	"CDC42BPB"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1738"	"CDC42BPB"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2020-02-09 19:04:29"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3745"	"2021-09-28"
"GENCC_000101-HGNC_1748-MONDO_0007338-HP_0000006-GENCC_100003"	"HGNC:1748"	"CDH1"	"MONDO:0007338"	"cleft soft palate"	"MONDO:0007338"	"cleft soft palate"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1748"	"CDH1"	"MONDO:0007338"	"cleft soft palate"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2018-02-22 19:04:30"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"333"	"2021-09-28"
"GENCC_000101-HGNC_1763-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:1763"	"CDH4"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1763"	"CDH4"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:30"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8226"	"2021-09-28"
"GENCC_000101-HGNC_21420-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:21420"	"CDK20"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21420"	"CDK20"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:30"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69776"	"2021-09-28"
"GENCC_000101-HGNC_18672-MONDO_0009022-HP_0000007-GENCC_100004"	"HGNC:18672"	"CDK5RAP2"	"MONDO:0009022"	"corpus callosum, agenesis of"	"MONDO:0009022"	"corpus callosum, agenesis of"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18672"	"CDK5RAP2"	"MONDO:0009022"	"corpus callosum, agenesis of"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-03 19:04:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77477"	"2021-09-28"
"GENCC_000101-HGNC_11411-MONDO_0000088-HP_0001417-GENCC_100004"	"HGNC:11411"	"CDKL5"	"MONDO:0000088"	"precocious puberty"	"MONDO:0000088"	"precocious puberty"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11411"	"CDKL5"	"MONDO:0000088"	"Precocious puberty"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-03 19:04:31"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1436"	"2021-09-28"
"GENCC_000101-HGNC_1786-MONDO_0008394-HP_0000006-GENCC_100004"	"HGNC:1786"	"CDKN1C"	"MONDO:0008394"	"Silver-Russell syndrome"	"MONDO:0008394"	"Silver-Russell syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1786"	"CDKN1C"	"MONDO:0008394"	"Silver-Russell syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-02-24 19:04:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8265"	"2021-09-28"
"GENCC_000101-HGNC_1788-MONDO_0017169-HP_0000006-GENCC_100004"	"HGNC:1788"	"CDKN2B"	"MONDO:0017169"	"multiple endocrine neoplasia"	"MONDO:0017169"	"multiple endocrine neoplasia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1788"	"CDKN2B"	"MONDO:0017169"	"Multiple endocrine neoplasia "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8292"	"2021-09-28"
"GENCC_000101-HGNC_1788-MONDO_0007665-HP_0000006-GENCC_100004"	"HGNC:1788"	"CDKN2B"	"MONDO:0007665"	"glaucoma 1, open angle, E"	"MONDO:0007665"	"glaucoma 1, open angle, E"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1788"	"CDKN2B"	"MONDO:0007665"	"primary open angle glaucoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8292"	"2021-09-28"
"GENCC_000101-HGNC_2550-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:2550"	"CELF2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2550"	"CELF2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-11-06 19:04:32"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82173"	"2021-09-28"
"GENCC_000101-HGNC_3968-MONDO_0019067-HP_0001417-GENCC_100004"	"HGNC:3968"	"CENPI"	"MONDO:0019067"	"idiopathic steroid-sensitive nephrotic syndrome"	"MONDO:0019067"	"idiopathic steroid-sensitive nephrotic syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3968"	"CENPI"	"MONDO:0019067"	"idiopathic steroid-sensitive nephrotic syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-01-10 19:04:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6038"	"2021-09-28"
"GENCC_000101-HGNC_1161-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:1161"	"CEP55"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1161"	"CEP55"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2020-03-01 19:04:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77817"	"2021-09-28"
"GENCC_000101-HGNC_25907-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:25907"	"CEP89"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25907"	"CEP89"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-04-04 19:04:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50326"	"2021-09-28"
"GENCC_000101-HGNC_33720-MONDO_0016575-HP_0000007-GENCC_100004"	"HGNC:33720"	"CFAP221"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:33720"	"CFAP221"	"MONDO:0016575"	"PRIMARY CILIARY DYSKINESIA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-11-13 19:04:33"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"622949"	"2021-09-28"
"GENCC_000101-HGNC_16053-MONDO_0018677-HP_0000007-GENCC_100004"	"HGNC:16053"	"CFAP52"	"MONDO:0018677"	"visceral heterotaxy"	"MONDO:0018677"	"visceral heterotaxy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16053"	"CFAP52"	"MONDO:0018677"	"visceral heterotaxy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"801507"	"2021-09-28"
"GENCC_000101-HGNC_1911-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:1911"	"CHAF1B"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1911"	"CHAF1B"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5625"	"2021-09-28"
"GENCC_000101-HGNC_20153-MONDO_0001071-HP_0000006-GENCC_100002"	"HGNC:20153"	"CHD8"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20153"	"CHD8"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Strong"	"GENCC:100002"	"Strong"	"2018-08-31 19:04:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74152"	"2021-09-28"
"GENCC_000101-HGNC_20153-MONDO_0018940-HP_0000006-GENCC_100004"	"HGNC:20153"	"CHD8"	"MONDO:0018940"	"congenital myasthenic syndrome"	"MONDO:0018940"	"congenital myasthenic syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20153"	"CHD8"	"MONDO:0018940"	"CONGENITAL MYASTHENIC SYNDROME"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-04-14 19:04:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74152"	"2021-09-28"
"GENCC_000101-HGNC_1960-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:1960"	"CHRNA7"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1960"	"CHRNA7"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-18 19:04:34"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8893"	"2021-09-28"
"GENCC_000101-HGNC_1964-MONDO_0008903-HP_0000006-GENCC_100004"	"HGNC:1964"	"CHRNB4"	"MONDO:0008903"	"lung cancer"	"MONDO:0008903"	"lung cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1964"	"CHRNB4"	"MONDO:0008903"	"lung cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8809"	"2021-09-28"
"GENCC_000101-HGNC_1987-MONDO_0000119-HP_0000006-GENCC_100003"	"HGNC:1987"	"CITED2"	"MONDO:0000119"	"congenital heart defects, multiple types"	"MONDO:0000119"	"congenital heart defects, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1987"	"CITED2"	"MONDO:0000119"	"congenital heart defects, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2018-01-18 19:04:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82942"	"2021-09-28"
"GENCC_000101-HGNC_16744-MONDO_0044807-HP_0000006-GENCC_100004"	"HGNC:16744"	"CIZ1"	"MONDO:0044807"	"inherited dystonia"	"MONDO:0044807"	"inherited dystonia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16744"	"CIZ1"	"MONDO:0044807"	"inherited dystonia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"67436"	"2021-09-28"
"GENCC_000101-HGNC_2041-Orphanet_676-HP_0000006-GENCC_100004"	"HGNC:2041"	"CLDN2"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"Orphanet:676"	"Orphanet:676"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2041"	"CLDN2"	"Orphanet:676"	"Hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3247"	"2021-09-28"
"GENCC_000101-HGNC_13258-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:13258"	"CLEC4C"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13258"	"CLEC4C"	"MONDO:0004976"	"AD Amyotrophic Lateral Sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-15 19:04:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"842056"	"2021-09-28"
"GENCC_000101-HGNC_10461-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:10461"	"CLIP1"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10461"	"CLIP1"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:35"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"1603"	"2021-09-28"
"GENCC_000101-HGNC_2079-MONDO_0005258-HP_0000006-GENCC_100005"	"HGNC:2079"	"CLN8"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2079"	"CLN8"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Disputed"	"GENCC:100005"	"Disputed Evidence"	"2018-08-30 19:04:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"6277"	"2021-09-28"
"GENCC_000101-HGNC_2093-MONDO_0019042-HP_0000006-GENCC_100004"	"HGNC:2093"	"CLTCL1"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2093"	"CLTCL1"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-18 19:04:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"5685"	"2021-09-28"
"GENCC_000101-HGNC_18290-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:18290"	"CMAS"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18290"	"CMAS"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-09-19 19:04:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77324"	"2021-09-28"
"GENCC_000101-HGNC_2149-MONDO_0010528-HP_0001417-GENCC_100004"	"HGNC:2149"	"CNGA2"	"MONDO:0010528"	"anosmia"	"MONDO:0010528"	"anosmia"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2149"	"CNGA2"	"MONDO:0010528"	"anosmia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8612"	"2021-09-28"
"GENCC_000101-HGNC_19700-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:19700"	"CNKSR1"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19700"	"CNKSR1"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-18 19:04:36"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82671"	"2021-09-28"
"GENCC_000101-HGNC_2191-MONDO_0019272-HP_0000006-GENCC_100004"	"HGNC:2191"	"COL14A1"	"MONDO:0019272"	"hereditary palmoplantar keratoderma"	"MONDO:0019272"	"hereditary palmoplantar keratoderma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2191"	"COL14A1"	"MONDO:0019272"	"hereditary palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4949"	"2021-09-28"
"GENCC_000101-HGNC_14670-MONDO_0019272-HP_0000006-GENCC_100004"	"HGNC:14670"	"COL20A1"	"MONDO:0019272"	"hereditary palmoplantar keratoderma"	"MONDO:0019272"	"hereditary palmoplantar keratoderma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14670"	"COL20A1"	"MONDO:0019272"	"hereditary palmoplantar keratoderma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-07-02 19:04:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74106"	"2021-09-28"
"GENCC_000101-HGNC_2200-MONDO_0008975-HP_0000007-GENCC_100004"	"HGNC:2200"	"COL2A1"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2200"	"COL2A1"	"MONDO:0008975"	"Otospondylomegaepiphyseal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8652"	"2021-09-28"
"GENCC_000101-HGNC_2208-MONDO_0010706-HP_0001417-GENCC_100004"	"HGNC:2208"	"COL4A6"	"MONDO:0010706"	"premature ovarian failure 1"	"MONDO:0010706"	"premature ovarian failure 1"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2208"	"COL4A6"	"MONDO:0010706"	"Premature ovarian failure"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:37"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8655"	"2021-09-28"
"GENCC_000101-HGNC_2209-MONDO_0000473-HP_0000006-GENCC_100004"	"HGNC:2209"	"COL5A1"	"MONDO:0000473"	"arterial disorder"	"MONDO:0000473"	"arterial disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2209"	"COL5A1"	"MONDO:0000473"	"arterial disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-10-01 19:04:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8653"	"2021-09-28"
"GENCC_000101-HGNC_27023-MONDO_0005336-HP_0000007-GENCC_100004"	"HGNC:27023"	"COL6A6"	"MONDO:0005336"	"myopathy"	"MONDO:0005336"	"myopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27023"	"COL6A6"	"MONDO:0005336"	"Myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-04-19 19:04:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"898549"	"2021-09-28"
"GENCC_000101-HGNC_2219-MONDO_0019354-HP_0000007-GENCC_100004"	"HGNC:2219"	"COL9A3"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2219"	"COL9A3"	"MONDO:0019354"	"Stickler syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-12-27 19:04:38"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8633"	"2021-09-28"
"GENCC_000101-HGNC_2228-MONDO_0015427-HP_0000006-GENCC_100003"	"HGNC:2228"	"COMT"	"MONDO:0015427"	"paroxysmal dyskinesia"	"MONDO:0015427"	"paroxysmal dyskinesia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2228"	"COMT"	"MONDO:0015427"	"PAROXYSMAL DYSKINESIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2018-08-31 19:04:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8986"	"2021-09-28"
"GENCC_000101-HGNC_20233-MONDO_0024517-HP_0000006-GENCC_100004"	"HGNC:20233"	"COQ6"	"MONDO:0024517"	"SMARCB1-related schwannomatosis"	"MONDO:0024517"	"SMARCB1-related schwannomatosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20233"	"COQ6"	"MONDO:0024517"	"SCHWANNOMATOSIS"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"78220"	"2021-09-28"
"GENCC_000101-HGNC_2252-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:2252"	"CORO1A"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2252"	"CORO1A"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-01-07 19:04:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88878"	"2021-09-28"
"GENCC_000101-HGNC_2296-Orphanet_676-HP_0000006-GENCC_100002"	"HGNC:2296"	"CPA1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"Orphanet:676"	"Orphanet:676"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2296"	"CPA1"	"Orphanet:676"	"Hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Strong"	"GENCC:100002"	"Strong"	"2018-03-29 19:04:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8974"	"2021-09-28"
"GENCC_000101-HGNC_2319-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:2319"	"CPNE6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2319"	"CPNE6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:39"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3916"	"2021-09-28"
"GENCC_000101-HGNC_18855-MONDO_0007788-HP_0000006-GENCC_100004"	"HGNC:18855"	"CREB3L3"	"MONDO:0007788"	"hypertriglyceridemia 1"	"MONDO:0007788"	"hypertriglyceridemia 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18855"	"CREB3L3"	"MONDO:0007788"	"Hypertriglyceridaemia, familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-09 19:04:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50133"	"2021-09-28"
"GENCC_000101-HGNC_24050-Orphanet_77828-HP_0000006-GENCC_100004"	"HGNC:24050"	"CREBRF"	"MONDO:0019182"	"inherited obesity"	"Orphanet:77828"	"Orphanet:77828"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24050"	"CREBRF"	"Orphanet:77828"	"Genetic obesity"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"879666"	"2021-09-28"
"GENCC_000101-HGNC_2355-MONDO_0002612-HP_0000006-GENCC_100004"	"HGNC:2355"	"CRH"	"MONDO:0002612"	"frontal lobe epilepsy"	"MONDO:0002612"	"frontal lobe epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2355"	"CRH"	"MONDO:0002612"	"frontal lobe epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-01-21 19:04:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8936"	"2021-09-28"
"GENCC_000101-HGNC_14026-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:14026"	"CSMD1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14026"	"CSMD1"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-07-03 19:04:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"10045"	"2021-09-28"
"GENCC_000101-HGNC_2453-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:2453"	"CSNK1E"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2453"	"CSNK1E"	"MONDO:0100062"	"Developmental encepholpathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-12-05 19:04:40"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8070"	"2021-09-28"
"GENCC_000101-HGNC_2454-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:2454"	"CSNK1G1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2454"	"CSNK1G1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-10-09 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"79300"	"2021-09-28"
"GENCC_000101-HGNC_2466-MONDO_0005090-HP_0000006-GENCC_100004"	"HGNC:2466"	"CSPG4"	"MONDO:0005090"	"schizophrenia"	"MONDO:0005090"	"schizophrenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2466"	"CSPG4"	"MONDO:0005090"	"schizophrenia (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-09 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8010"	"2021-09-28"
"GENCC_000101-HGNC_15679-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:15679"	"CTTNBP2"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15679"	"CTTNBP2"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-11-22 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"59336"	"2021-09-28"
"GENCC_000101-HGNC_2583-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:2583"	"CYLC2"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2583"	"CYLC2"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8793"	"2021-09-28"
"GENCC_000101-HGNC_2584-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:2584"	"CYLD"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2584"	"CYLD"	"MONDO:0004976"	"AD Amyotrophic Lateral Sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-04-14 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8702"	"2021-09-28"
"GENCC_000101-HGNC_2674-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:2674"	"DAPK1"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2674"	"DAPK1"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-06-22 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8186"	"2021-09-28"
"GENCC_000101-HGNC_18423-MONDO_0015263-HP_0000006-GENCC_100004"	"HGNC:18423"	"DEPDC5"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18423"	"DEPDC5"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-09-06 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3158"	"2021-09-28"
"GENCC_000101-HGNC_16940-MONDO_0015626-HP_0000006-GENCC_100004"	"HGNC:16940"	"DGAT2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16940"	"DGAT2"	"MONDO:0015626"	"Charcot Marie Tooth"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"50103"	"2021-09-28"
"GENCC_000101-HGNC_2845-MONDO_0005090-HP_0000006-GENCC_100004"	"HGNC:2845"	"DGCR2"	"MONDO:0005090"	"schizophrenia"	"MONDO:0005090"	"schizophrenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2845"	"DGCR2"	"MONDO:0005090"	"schizophrenia (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-15 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3339"	"2021-09-28"
"GENCC_000101-HGNC_16717-MONDO_0005283-HP_0000007-GENCC_100004"	"HGNC:16717"	"DHX32"	"MONDO:0005283"	"retinal disorder"	"MONDO:0005283"	"retinal disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16717"	"DHX32"	"MONDO:0005283"	"Retinal Disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-15 19:04:41"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"77412"	"2021-09-28"
"GENCC_000101-HGNC_17217-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:17217"	"DIP2A"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17217"	"DIP2A"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-07-29 19:04:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69858"	"2021-09-28"
"GENCC_000101-HGNC_2897-MONDO_0000119-HP_0000006-GENCC_100004"	"HGNC:2897"	"DLC1"	"MONDO:0000119"	"congenital heart defects, multiple types"	"MONDO:0000119"	"congenital heart defects, multiple types"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2897"	"DLC1"	"MONDO:0000119"	"congenital heart defects, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82937"	"2021-09-28"
"GENCC_000101-HGNC_2904-MONDO_0019719-HP_0000007-GENCC_100004"	"HGNC:2904"	"DLG5"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2904"	"DLG5"	"MONDO:0019719"	"Congenital anomalies of the kidney and urinary tract"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-02-25 19:04:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3698"	"2021-09-28"
"GENCC_000101-HGNC_2919-MONDO_0005258-HP_0000006-GENCC_100004"	"HGNC:2919"	"DLX6"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2919"	"DLX6"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-30 19:04:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8472"	"2021-09-28"
"GENCC_000101-HGNC_19026-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:19026"	"DMBX1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19026"	"DMBX1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"864909"	"2021-09-28"
"GENCC_000101-HGNC_2927-MONDO_0004983-HP_0000007-GENCC_100004"	"HGNC:2927"	"DMC1"	"MONDO:0004983"	"spermatogenic failure"	"MONDO:0004983"	"spermatogenic failure"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2927"	"DMC1"	"MONDO:0004983"	"azoospermia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-22 19:04:42"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"88800"	"2021-09-28"
"GENCC_000101-HGNC_2935-MONDO_0000359-HP_0000007-GENCC_100004"	"HGNC:2935"	"DMRT2"	"MONDO:0000359"	"spondylocostal dysostosis"	"MONDO:0000359"	"spondylocostal dysostosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2935"	"DMRT2"	"MONDO:0000359"	"spondylocostal dysostosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-04-23 19:04:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"82177"	"2021-09-28"
"GENCC_000101-HGNC_2953-MONDO_0005090-HP_0000006-GENCC_100004"	"HGNC:2953"	"DNAH9"	"MONDO:0005090"	"schizophrenia"	"MONDO:0005090"	"schizophrenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2953"	"DNAH9"	"MONDO:0005090"	"schizophrenia (disease)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8442"	"2021-09-28"
"GENCC_000101-HGNC_5229-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:5229"	"DNAJA1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5229"	"DNAJA1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-05-15 19:04:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"9928"	"2021-09-28"
"GENCC_000101-HGNC_11808-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:11808"	"DNAJA3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11808"	"DNAJA3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-02-25 19:04:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"3239"	"2021-09-28"
"GENCC_000101-HGNC_9439-MONDO_0005148-HP_0000006-GENCC_100004"	"HGNC:9439"	"DNAJC3"	"MONDO:0005148"	"type 2 diabetes mellitus"	"MONDO:0005148"	"type 2 diabetes mellitus"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9439"	"DNAJC3"	"MONDO:0005148"	"type 2 diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-05-24 19:04:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"7188"	"2021-09-28"
"GENCC_000101-HGNC_12392-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:12392"	"DNAJC7"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12392"	"DNAJC7"	"MONDO:0004976"	"AD Amyotrophic Lateral Sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2020-10-21 19:04:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"4611"	"2021-09-28"
"GENCC_000101-HGNC_2974-MONDO_0019064-HP_0000006-GENCC_100004"	"HGNC:2974"	"DNM2"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2974"	"DNM2"	"MONDO:0019064"	"hereditary spastic paraplegia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-23 19:04:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8457"	"2021-09-28"
"GENCC_000101-HGNC_19191-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:19191"	"DOCK8"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19191"	"DOCK8"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-03-05 19:04:43"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"58420"	"2021-09-28"
"GENCC_000101-HGNC_14132-MONDO_0015486-HP_0000006-GENCC_100004"	"HGNC:14132"	"DOCK9"	"MONDO:0015486"	"keratoconus"	"MONDO:0015486"	"keratoconus"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14132"	"DOCK9"	"MONDO:0015486"	"Keratoconus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"69905"	"2021-09-28"
"GENCC_000101-HGNC_3029-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:3029"	"DRG1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3029"	"DRG1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"0499"	"2021-09-28"
"GENCC_000101-HGNC_3032-MONDO_0015626-HP_0001417-GENCC_100003"	"HGNC:3032"	"DRP2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3032"	"DRP2"	"MONDO:0015626"	"Charcot Marie Tooth"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2019-06-27 19:04:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8568"	"2021-09-28"
"GENCC_000101-HGNC_3036-MONDO_0005484-HP_0000006-GENCC_100004"	"HGNC:3036"	"DSC2"	"MONDO:0005484"	"colorectal adenoma"	"MONDO:0005484"	"colorectal adenoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3036"	"DSC2"	"MONDO:0005484"	"colorectal adenomatous polyposis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-02-06 19:04:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8560"	"2021-09-28"
"GENCC_000101-HGNC_3039-MONDO_0005258-HP_0000006-GENCC_100003"	"HGNC:3039"	"DSCAM"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3039"	"DSCAM"	"MONDO:0005258"	"Austism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Moderate"	"GENCC:100003"	"Moderate"	"2019-01-07 19:04:44"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8561"	"2021-09-28"
"GENCC_000101-HGNC_14656-MONDO_0020128-HP_0000007-GENCC_100004"	"HGNC:14656"	"DSCAML1"	"MONDO:0020128"	"motor neuron disorder"	"MONDO:0020128"	"motor neuron disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14656"	"DSCAML1"	"MONDO:0020128"	"motor neuron disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-15 19:04:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74079"	"2021-09-28"
"GENCC_000101-HGNC_14656-MONDO_0005283-HP_0000007-GENCC_100004"	"HGNC:14656"	"DSCAML1"	"MONDO:0005283"	"retinal disorder"	"MONDO:0005283"	"retinal disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14656"	"DSCAML1"	"MONDO:0005283"	"Retinal Disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-01-15 19:04:45"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"74079"	"2021-09-28"
"GENCC_000101-HGNC_3057-MONDO_0007972-HP_0000006-GENCC_100004"	"HGNC:3057"	"DTNA"	"MONDO:0007972"	"Meniere disease"	"MONDO:0007972"	"Meniere disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3057"	"DTNA"	"MONDO:0007972"	"Meniere disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2018-08-31 19:04:46"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8594"	"2021-09-28"
"GENCC_000101-HGNC_3061-MONDO_0018158-HP_0000007-GENCC_100004"	"HGNC:3061"	"DTYMK"	"MONDO:0018158"	"mitochondrial DNA depletion syndrome"	"MONDO:0018158"	"mitochondrial DNA depletion syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3061"	"DTYMK"	"MONDO:0018158"	"MITOCHONDRIAL DNA DEPLETION SYNDROME"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Limited"	"GENCC:100004"	"Limited"	"2019-07-26 19:04:46"	""	""	""	"https://pubmed.ncbi.nlm.nih.gov/28106320/"	"8508"	"2021-09-28"
"GENCC_000106-HGNC_20-OMIM_613287-HP_0000006-GENCC_100002"	"HGNC:20"	"AARS1"	"MONDO:0013212"	"Charcot-Marie-Tooth disease axonal type 2N"	"OMIM:613287"	"Charcot-Marie-Tooth disease, axonal, type 2N"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20"	"AARS1"	"OMIM:613287"	"Charcot-Marie-Tooth disease axonal type 2N"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-19 14:56:25"	""	""	"20045102, 22009580, 22206013, 9736622"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AARS0CMT"	"2023-11-30"
"GENCC_000106-HGNC_20-OMIM_616339-HP_0000007-GENCC_100002"	"HGNC:20"	"AARS1"	"MONDO:0014593"	"developmental and epileptic encephalopathy, 29"	"OMIM:616339"	"Developmental and epileptic encephalopathy 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20"	"AARS1"	"OMIM:616339"	"undetermined early-onset epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-19 14:56:38"	""	""	"25817015, 28493438, 29858556, 34446925"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AARS0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_29-OMIM_604091-HP_0000006-GENCC_100004"	"HGNC:29"	"ABCA1"	"MONDO:0011393"	"hypoalphalipoproteinemia, primary, 1"	"OMIM:604091"	"HDL deficiency, familial, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29"	"ABCA1"	"OMIM:604091"	"hypoalphalipoproteinemia, primary, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-02-11 12:05:54"	""	""	"10533863, 10760292, 12615648, 15019541, 20880529"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA10HdlDefic"	"2023-11-30"
"GENCC_000106-HGNC_29-OMIM_205400-HP_0000007-GENCC_100002"	"HGNC:29"	"ABCA1"	"MONDO:0008783"	"Tangier disease"	"OMIM:205400"	"Tangier disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29"	"ABCA1"	"OMIM:205400"	"Tangier disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-13 17:19:10"	""	""	"10431238, 10525055, 10760292, 12576507, 12702168, 20880529, 22769014"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA10TangierD"	"2023-11-30"
"GENCC_000106-HGNC_48-OMIM_301310-HP_0001417-GENCC_100002"	"HGNC:48"	"ABCB7"	"MONDO:0010524"	"X-linked sideroblastic anemia with ataxia"	"OMIM:301310"	"Anemia, sideroblastic, with ataxia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:48"	"ABCB7"	"OMIM:301310"	"X-linked sideroblastic anemia with ataxia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:55"	""	""	"10196363, 11050011, 11118249, 11843825, 16467350, 22398176, 26242992, 4045952"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCB70SidAnemAtax"	"2023-11-30"
"GENCC_000106-HGNC_57-OMIM_264800-HP_0000007-GENCC_100002"	"HGNC:57"	"ABCC6"	"MONDO:0009925"	"autosomal recessive inherited pseudoxanthoma elasticum"	"OMIM:264800"	"{Pseudoxanthoma elasticum, modifier of severity of}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:57"	"ABCC6"	"OMIM:264800"	"autosomal recessive inherited pseudoxanthoma elasticum"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-17 19:44:33"	""	""	"10811882, 10835642, 11536079, 121188, 121296, 16086317, 16135817, 16541094, 17617515, 22209248, 25367056, 25383264, 26361562, 282530, 282686"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC60Pseudoxanth"	"2023-11-30"
"GENCC_000106-HGNC_60-OMIM_239850-HP_0000006-GENCC_100002"	"HGNC:60"	"ABCC9"	"MONDO:0009406"	"hypertrichotic osteochondrodysplasia Cantu type"	"OMIM:239850"	"Hypertrichotic osteochondrodysplasia (Cantu syndrome)"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:60"	"ABCC9"	"OMIM:239850"	"hypertrichotic osteochondrodysplasia Cantu type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:57:44"	""	""	"22608503, 22610116, 24439875, 246980, 26621776, 27247394"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC90Cantu"	"2023-11-30"
"GENCC_000106-HGNC_13886-OMIM_210250-HP_0000007-GENCC_100002"	"HGNC:13886"	"ABCG5"	"MONDO:0020747"	"sitosterolemia 1"	"OMIM:210250"	"Sitosterolemia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13886"	"ABCG5"	"OMIM:210250"	"sitosterolemia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-07 16:33:23"	""	""	"11138003, 18441155, 23556150, 25665839, 29066094, 30241732, 30270055, 31327807, 34880906, 35549507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCG50Sitosterolemia"	"2023-11-30"
"GENCC_000106-HGNC_13887-OMIM_210250-HP_0000007-GENCC_100002"	"HGNC:13887"	"ABCG8"	"MONDO:0020747"	"sitosterolemia 1"	"OMIM:210250"	"Sitosterolemia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13887"	"ABCG8"	"OMIM:210250"	"sitosterolemia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:45:33"	""	""	"11452359, 15375183, 16029460, 23556150, 29066094, 30827231, 31327807, 35549507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCG80Sitosterolemia"	"2023-11-30"
"GENCC_000106-HGNC_90-OMIM_201470-HP_0000007-GENCC_100002"	"HGNC:90"	"ACADS"	"MONDO:0008722"	"short chain acyl-CoA dehydrogenase deficiency"	"OMIM:201470"	"Acyl-CoA dehydrogenase, short-chain, deficiency of"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:90"	"ACADS"	"OMIM:201470"	"short chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-19 15:24:30"	""	""	"12736383, 12736388, 18523805, 22241096, 27051597"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACADS0SCADDef02"	"2023-11-30"
"GENCC_000106-HGNC_319-OMIM_612813-HP_0000007-GENCC_100002"	"HGNC:319"	"ACAN"	"MONDO:0013014"	"spondyloepimetaphyseal dysplasia, aggrecan type"	"OMIM:612813"	"Spondyloepimetaphyseal dysplasia, aggrecan type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:319"	"ACAN"	"OMIM:612813"	"spondyloepimetaphyseal dysplasia, aggrecan type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-15 13:53:04"	""	""	"19110214, 29464738, 30921094"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACAN0SEMDys02"	"2023-11-30"
"GENCC_000106-HGNC_23338-OMIM_618863-HP_0000007-GENCC_100002"	"HGNC:23338"	"ACBD5"	"MONDO:0030026"	"retinal dystrophy with leukodystrophy"	"OMIM:618863"	"Retinal dystrophy with leukodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23338"	"ACBD5"	"OMIM:618863"	"retinal dystrophy with leukodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-09 00:38:11"	""	""	"23105016, 27799409, 37789430"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACBD50RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_25070-OMIM_616553-HP_0000007-GENCC_100002"	"HGNC:25070"	"ACD"	"MONDO:0014690"	"dyskeratosis congenita, autosomal dominant 6"	"OMIM:616553"	"?Dyskeratosis congenita, autosomal dominant 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25070"	"ACD"	"OMIM:616553"	"Hoyeraal-Hreidarsson syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-19 12:12:15"	""	""	"20493811, 25205116, 25233904, 27528712, 30064976, 33446513"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACD0DKC"	"2023-11-30"
"GENCC_000106-HGNC_25070-OMIM_616553-HP_0000006-GENCC_100002"	"HGNC:25070"	"ACD"	"MONDO:0014690"	"dyskeratosis congenita, autosomal dominant 6"	"OMIM:616553"	"?Dyskeratosis congenita, autosomal dominant 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25070"	"ACD"	"OMIM:616553"	"Hoyeraal-Hreidarsson syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-19 12:12:15"	""	""	"25205116, 25233904, 30064976, 31515401"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACD0DKC02"	"2023-11-30"
"GENCC_000106-HGNC_2707-OMIM_267430-HP_0000007-GENCC_100002"	"HGNC:2707"	"ACE"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"OMIM:267430"	"Renal tubular dysgenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2707"	"ACE"	"OMIM:267430"	"renal tubular dysgenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-15 13:43:24"	""	""	"22095942"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACE0RenalTub"	"2023-11-30"
"GENCC_000106-HGNC_119-OMIM_618960-HP_0000006-GENCC_100002"	"HGNC:119"	"ACOX1"	"MONDO:0030073"	"Mitchell syndrome"	"OMIM:618960"	"Mitchell syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:119"	"ACOX1"	"OMIM:618960"	"Mitchell syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 14:59:54"	""	""	"32169171, 37400800"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACOX10AxNeuro"	"2023-11-30"
"GENCC_000106-HGNC_119-OMIM_264470-HP_0000007-GENCC_100002"	"HGNC:119"	"ACOX1"	"MONDO:0009919"	"peroxisomal acyl-CoA oxidase deficiency"	"OMIM:264470"	"Peroxisomal acyl-CoA oxidase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:119"	"ACOX1"	"OMIM:264470"	"peroxisomal acyl-CoA oxidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-14 07:14:52"	""	""	"11815777, 11855929, 17458872, 23622381, 8040306, 8798738"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACOX10PeroxAcylCoA"	"2023-11-30"
"GENCC_000106-HGNC_120-OMIM_617308-HP_0000007-GENCC_100004"	"HGNC:120"	"ACOX2"	"MONDO:0015015"	"congenital bile acid synthesis defect 6"	"OMIM:617308"	"Bile acid synthesis defect, congenital, 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:120"	"ACOX2"	"OMIM:617308"	"congenital bile acid synthesis defect 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:02"	""	""	"27647924, 27884763, 29287774, 31533369"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACOX20BileAcidsyndef"	"2023-11-30"
"GENCC_000106-HGNC_3571-OMIM_300387-HP_0001417-GENCC_100002"	"HGNC:3571"	"ACSL4"	"MONDO:0010313"	"intellectual disability, X-linked 63"	"OMIM:300387"	"Intellectual developmental disorder, X-linked 63"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3571"	"ACSL4"	"OMIM:300387"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"11409893, 11889465, 12525535, 25644381, 31481330"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACSL40ID"	"2023-11-30"
"GENCC_000106-HGNC_129-OMIM_161800-HP_0000007-GENCC_100002"	"HGNC:129"	"ACTA1"	"MONDO:0008070"	"congenital myopathy 2a, typical, autosomal dominant"	"OMIM:161800"	"Congenital myopathy 2A, typical, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:129"	"ACTA1"	"OMIM:161800"	"congenital myopathy with excess of thin filaments"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 10:35:47"	""	""	"19562689"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTA10NEM0Nemaline02"	"2023-11-30"
"GENCC_000106-HGNC_160-OMIM_618470-HP_0000006-GENCC_100002"	"HGNC:160"	"ACTL6B"	"MONDO:0032770"	"intellectual developmental disorder with severe speech and ambulation defects"	"OMIM:618470"	"Intellectual developmental disorder with severe speech and ambulation defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:160"	"ACTL6B"	"OMIM:618470"	"intellectual developmental disorder with severe speech and ambulation defects"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-12 13:44:36"	""	""	"23525042, 28628100, 31031012"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTL6B0ACTL6Brel"	"2023-11-30"
"GENCC_000106-HGNC_28494-OMIM_619258-HP_0000007-GENCC_100002"	"HGNC:28494"	"ACTL9"	"MONDO:0030989"	"spermatogenic failure 53"	"OMIM:619258"	"Spermatogenic failure 53"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28494"	"ACTL9"	"OMIM:619258"	"spermatogenic failure 53"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:02"	""	""	"33626338"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTL90MaleInfertility"	"2023-11-30"
"GENCC_000106-HGNC_166-OMIM_603278-HP_0000006-GENCC_100002"	"HGNC:166"	"ACTN4"	"MONDO:0011303"	"focal segmental glomerulosclerosis 1"	"OMIM:603278"	"Glomerulosclerosis, focal segmental, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:166"	"ACTN4"	"OMIM:603278"	"familial idiopathic steroid-resistant nephrotic syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:56"	""	""	"10700177, 12707390, 1429048, 16251236, 18164029, 18436095, 21762701, 22351778, 23014460, 25060053, 25903641, 26740551, 27977723, 30295827, 30406062, 35755072, 36176665, 9461087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTN40FSGS"	"2023-11-30"
"GENCC_000106-HGNC_171-OMIM_135100-HP_0000006-GENCC_100002"	"HGNC:171"	"ACVR1"	"MONDO:0007606"	"fibrodysplasia ossificans progressiva"	"OMIM:135100"	"Fibrodysplasia ossificans progressiva"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:171"	"ACVR1"	"OMIM:135100"	"fibrodysplasia ossificans progressiva"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-02 14:49:21"	""	""	"16642017, 18684712, 19085907, 19400542, 20463014, 21044902, 22131272, 22508565, 24852373, 26621707, 8423182"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACVR10FibrodysOssif"	"2023-11-30"
"GENCC_000106-HGNC_175-OMIM_600376-HP_0000006-GENCC_100002"	"HGNC:175"	"ACVRL1"	"MONDO:0010880"	"telangiectasia, hereditary hemorrhagic, type 2"	"OMIM:600376"	"Telangiectasia, hereditary hemorrhagic, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:175"	"ACVRL1"	"OMIM:600376"	"hereditary hemorrhagic telangiectasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 05:06:59"	""	""	"10716993, 10946360, 12588795, 12843319, 15879500, 16542389, 16690726, 16752392, 20414677"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACVRL10HHT"	"2023-11-30"
"GENCC_000106-HGNC_177-OMIM_609924-HP_0000007-GENCC_100002"	"HGNC:177"	"ACY1"	"MONDO:0012368"	"aminoacylase 1 deficiency"	"OMIM:609924"	"Aminoacylase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:177"	"ACY1"	"OMIM:609924"	"aminoacylase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:51"	""	""	"16274666, 16465618, 17562838, 20480396, 21414403, 24997716, 26686503"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACY10Aminoacy"	"2023-11-30"
"GENCC_000106-HGNC_188-OMIM_615537-HP_0000006-GENCC_100002"	"HGNC:188"	"ADAM10"	"MONDO:0014234"	"reticulate acropigmentation of Kitamura"	"OMIM:615537"	"Reticulate acropigmentation of Kitamura"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:188"	"ADAM10"	"OMIM:615537"	"reticulate acropigmentation of Kitamura"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 14:48:35"	""	""	"23666529"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAM100Reticula"	"2023-11-30"
"GENCC_000106-HGNC_195-OMIM_614328-HP_0000007-GENCC_100002"	"HGNC:195"	"ADAM17"	"MONDO:0013693"	"inflammatory skin and bowel disease, neonatal, 1"	"OMIM:614328"	"?Inflammatory skin and bowel disease, neonatal, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:195"	"ADAM17"	"OMIM:614328"	"neonatal inflammatory skin and bowel disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-10 08:01:37"	""	""	"20603312, 22010916, 25804906"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAM170ISBD"	"2023-11-30"
"GENCC_000106-HGNC_13201-OMIM_277600-HP_0000007-GENCC_100002"	"HGNC:13201"	"ADAMTS10"	"MONDO:0010194"	"Weill-Marchesani syndrome 1"	"OMIM:277600"	"Weill-Marchesani syndrome 1, recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13201"	"ADAMTS10"	"OMIM:277600"	"Weill-Marchesani syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 22:19:52"	""	""	"15368195, 18567016, 24039088"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTS100WeillMarch"	"2023-11-30"
"GENCC_000106-HGNC_219-OMIM_618154-HP_0000007-GENCC_100002"	"HGNC:219"	"ADAMTS3"	"MONDO:0032564"	"hennekam lymphangiectasia-lymphedema syndrome 3"	"OMIM:618154"	"Hennekam lymphangiectasia-lymphedema syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:219"	"ADAMTS3"	"OMIM:618154"	"hennekam lymphangiectasia-lymphedema syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-21 15:55:22"	""	""	"26446156, 28985353, 30450763"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTS30HLL3"	"2023-11-30"
"GENCC_000106-HGNC_14631-OMIM_231050-HP_0000007-GENCC_100002"	"HGNC:14631"	"ADAMTSL2"	"MONDO:0009269"	"geleophysic dysplasia 1"	"OMIM:231050"	"Geleophysic dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14631"	"ADAMTSL2"	"OMIM:231050"	"geleophysic dysplasia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"18677313, 21415077, 27057656, 30195254"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTSL20Geleophysic"	"2023-11-30"
"GENCC_000106-HGNC_225-OMIM_615010-HP_0000007-GENCC_100002"	"HGNC:225"	"ADAR"	"MONDO:0014007"	"Aicardi-Goutieres syndrome 6"	"OMIM:615010"	"Aicardi-Goutieres syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:225"	"ADAR"	"OMIM:615010"	"Aicardi-Goutieres syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-03 09:14:04"	""	""	"23001123, 30692772"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAR0AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_225-OMIM_127400-HP_0000006-GENCC_100002"	"HGNC:225"	"ADAR"	"MONDO:0007483"	"dyschromatosis symmetrica hereditaria"	"OMIM:127400"	"Dyschromatosis symmetrica hereditaria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:225"	"ADAR"	"OMIM:127400"	"dyschromatosis symmetrica hereditaria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"22974014, 24826352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAR0DyschromSym"	"2023-11-30"
"GENCC_000106-HGNC_226-OMIM_618862-HP_0000007-GENCC_100002"	"HGNC:226"	"ADARB1"	"MONDO:0030025"	"neurodevelopmental disorder with hypotonia, microcephaly, and seizures"	"OMIM:618862"	"Neurodevelopmental disorder with hypotonia, microcephaly, and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:226"	"ADARB1"	"OMIM:618862"	"neurodevelopmental disorder with hypotonia, microcephaly, and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:00"	""	""	"32719099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADARB10ADARB1rel"	"2023-11-30"
"GENCC_000106-HGNC_25151-OMIM_615286-HP_0000007-GENCC_100002"	"HGNC:25151"	"ADAT3"	"MONDO:0014119"	"intellectual disability-strabismus syndrome"	"OMIM:615286"	"Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25151"	"ADAT3"	"OMIM:615286"	"intellectual disability-strabismus syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-06 13:31:54"	""	""	"23620220, 26633546, 26842963, 28454995, 29796286, 30202406, 30296593, 31687266, 32763916"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAT30ID"	"2023-11-30"
"GENCC_000106-HGNC_232-OMIM_610154-HP_0000007-GENCC_100004"	"HGNC:232"	"ADCY1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"OMIM:610154"	"?Deafness, autosomal recessive 44"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:232"	"ADCY1"	"OMIM:610154"	"Deafness, autosomal recessive 44"	"HP:0000007"	"Autosomal Recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-04-05 17:39:24"	""	""	"24482543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/38"	"ADCY10Deafness"	"2022-02-03"
"GENCC_000106-HGNC_234-OMIM_617885-HP_0000007-GENCC_100002"	"HGNC:234"	"ADCY3"	"MONDO:0054749"	"body mass index quantitative trait locus 19"	"OMIM:617885"	"{Obesity, susceptibility to, BMIQ19}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:234"	"ADCY3"	"OMIM:617885"	"body mass index quantitative trait locus 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 13:03:15"	""	""	"29311637, 29374254"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADCY30{Obesity010"	"2023-11-30"
"GENCC_000106-HGNC_21869-OMIM_212350-HP_0000007-GENCC_100002"	"HGNC:21869"	"AGK"	"MONDO:0008922"	"Sengers syndrome"	"OMIM:212350"	"Sengers syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21869"	"AGK"	"OMIM:212350"	"Sengers syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-19 06:39:14"	""	""	"22277967, 22284826, 23266196, 25208612"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGK0Sengers"	"2023-11-30"
"GENCC_000106-HGNC_3263-OMIM_619149-HP_0000006-GENCC_100002"	"HGNC:3263"	"AGO2"	"MONDO:0030897"	"Lessel-Kreienkamp syndrome"	"OMIM:619149"	"Lessel-Kreienkamp syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3263"	"AGO2"	"OMIM:619149"	"Lessel-Kreienkamp syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-26 14:04:31"	""	""	"33199684"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGO20Less0Krei0synd"	"2023-11-30"
"GENCC_000106-HGNC_325-OMIM_608594-HP_0000007-GENCC_100002"	"HGNC:325"	"AGPAT2"	"MONDO:0012071"	"congenital generalized lipodystrophy type 1"	"OMIM:608594"	"Lipodystrophy, congenital generalized, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:325"	"AGPAT2"	"OMIM:608594"	"Berardinelli-Seip congenital lipodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-05 12:08:13"	""	""	"11967537, 15181077, 20551664"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGPAT20SC0BSCL0t1t2"	"2023-11-30"
"GENCC_000106-HGNC_333-OMIM_267430-HP_0000007-GENCC_100002"	"HGNC:333"	"AGT"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"OMIM:267430"	"Renal tubular dysgenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:333"	"AGT"	"OMIM:267430"	"renal tubular dysgenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:36:23"	""	""	"11096065, 16116425, 17036344, 22095942, 281842, 31718018"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGT0RenalTub"	"2023-11-30"
"GENCC_000106-HGNC_341-OMIM_259900-HP_0000007-GENCC_100002"	"HGNC:341"	"AGXT"	"MONDO:0009823"	"primary hyperoxaluria type 1"	"OMIM:259900"	"Hyperoxaluria, primary, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:341"	"AGXT"	"OMIM:259900"	"primary hyperoxaluria type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-26 17:29:17"	""	""	"15849466, 15963748, 16208537, 17110443, 18985333, 19479957, 20549407, 22844106, 25644115, 9002528"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGXT0Hyperoxaluria"	"2023-11-30"
"GENCC_000106-HGNC_343-OMIM_613752-HP_0000007-GENCC_100002"	"HGNC:343"	"AHCY"	"MONDO:0013404"	"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"	"OMIM:613752"	"Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:343"	"AHCY"	"OMIM:613752"	"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-27 11:08:03"	""	""	"15024124, 19177456, 20852937, 22959829, 26527160"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AHCY0Hypermeth"	"2023-11-30"
"GENCC_000106-HGNC_13203-OMIM_605258-HP_0000007-GENCC_100002"	"HGNC:13203"	"AICDA"	"MONDO:0011528"	"hyper-IgM syndrome type 2"	"OMIM:605258"	"Immunodeficiency with hyper-IgM, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13203"	"AICDA"	"OMIM:605258"	"hyper-IgM syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-24 15:38:22"	""	""	"11007475, 11112359"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AICDA0Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_361-OMIM_612631-HP_0000007-GENCC_100002"	"HGNC:361"	"AK1"	"MONDO:0012967"	"hemolytic anemia due to adenylate kinase deficiency"	"OMIM:612631"	"Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:361"	"AK1"	"OMIM:612631"	"hemolytic anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 09:43:55"	""	""	"10233365, 12649162, 15315793, 28211224, 7947281, 9432020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AK10Hemolyti02"	"2023-11-30"
"GENCC_000106-HGNC_362-OMIM_267500-HP_0000007-GENCC_100002"	"HGNC:362"	"AK2"	"MONDO:0009973"	"reticular dysgenesis"	"OMIM:267500"	"Reticular dysgenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:362"	"AK2"	"OMIM:267500"	"reticular dysgenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-08 14:45:27"	""	""	"19043416, 19043417, 19414857"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AK20SCID"	"2023-11-30"
"GENCC_000106-HGNC_1449-OMIM_618782-HP_0000006-GENCC_100002"	"HGNC:1449"	"CALM3"	"MONDO:0032915"	"long QT syndrome 16"	"OMIM:618782"	"?Ventricular tachycardia, catecholaminergic polymorphic 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1449"	"CALM3"	"OMIM:618782"	"long QT syndrome 16"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 09:05:57"	""	""	"23040497, 23388215, 24025405, 25460178, 27516456"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CALM30CPVT"	"2023-11-30"
"GENCC_000106-HGNC_1516-OMIM_614097-HP_0000007-GENCC_100002"	"HGNC:1516"	"CAT"	"MONDO:0013571"	"acatalasia"	"OMIM:614097"	"Acatalasemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1516"	"CAT"	"OMIM:614097"	"acatalasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-12 09:43:37"	""	""	"11001624, 11603354, 2308162, 24522161"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAT0Acatalasemia"	"2023-11-30"
"GENCC_000106-HGNC_1529-OMIM_607801-HP_0000007-GENCC_100002"	"HGNC:1529"	"CAV3"	"MONDO:0011910"	"autosomal dominant limb-girdle muscular dystrophy type 1C"	"OMIM:607801"	"OMIM:607801"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1529"	"CAV3"	"OMIM:607801"	"autosomal dominant limb-girdle muscular dystrophy type 1C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-26 14:22:34"	""	""	"11251997, 12666119, 15318349, 15668980, 16730439, 17537631, 18487559, 18930476, 19697367, 20472890, 21294223, 9536092"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAV30LGMD02"	"2023-11-30"
"GENCC_000106-HGNC_1552-OMIM_613080-HP_0000007-GENCC_100004"	"HGNC:1552"	"CBX2"	"MONDO:0013120"	"46,XY sex reversal 5"	"OMIM:613080"	"?46XY sex reversal 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1552"	"CBX2"	"OMIM:613080"	"46,XY complete gonadal dysgenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:51"	""	""	"19361780, 30668521, 9641679"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CBX2046XY"	"2023-11-30"
"GENCC_000106-HGNC_30237-OMIM_608443-HP_0000007-GENCC_100002"	"HGNC:30237"	"CC2D1A"	"MONDO:0012037"	"intellectual disability, autosomal recessive 3"	"OMIM:608443"	"Intellectual developmental disorder, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30237"	"CC2D1A"	"OMIM:608443"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"16033914"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CC2D1A0ID"	"2023-11-30"
"GENCC_000106-HGNC_29426-OMIM_235510-HP_0000007-GENCC_100002"	"HGNC:29426"	"CCBE1"	"MONDO:0009337"	"Hennekam lymphangiectasia-lymphedema syndrome 1"	"OMIM:235510"	"Hennekam lymphangiectasia-lymphedema syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29426"	"CCBE1"	"OMIM:235510"	"Hennekam syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-28 11:59:10"	""	""	"19935664, 21778431, 23653581, 26686525"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCBE10HLL"	"2023-11-30"
"GENCC_000106-HGNC_28909-OMIM_300963-HP_0001417-GENCC_100002"	"HGNC:28909"	"CCDC22"	"MONDO:0010499"	"Ritscher-Schinzel syndrome 2"	"OMIM:300963"	"Ritscher-Schinzel syndrome 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:28909"	"CCDC22"	"OMIM:300963"	"Ritscher-Schinzel syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 19:07:54"	""	""	"21826058, 23563313, 24916641, 30706328"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC220Ritscher"	"2023-11-30"
"GENCC_000106-HGNC_14153-OMIM_614807-HP_0000006-GENCC_100004"	"HGNC:14153"	"CCDC78"	"MONDO:0013890"	"congenital myopathy with internal nuclei and atypical cores"	"OMIM:614807"	"?Centronuclear myopathy 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14153"	"CCDC78"	"OMIM:614807"	"congenital myopathy with internal nuclei and atypical cores"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"22818856, 25635128, 26633542, 28454995, 29970176"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC780CNM"	"2023-11-30"
"GENCC_000106-HGNC_25367-OMIM_614205-HP_0000007-GENCC_100002"	"HGNC:25367"	"CCDC8"	"MONDO:0013627"	"3M syndrome 3"	"OMIM:614205"	"3-M syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25367"	"CCDC8"	"OMIM:614205"	"3-M syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-25 12:57:14"	""	""	"21737058, 231786, 248784, 31343991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC803MSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_25523-OMIM_617507-HP_0000007-GENCC_100002"	"HGNC:25523"	"CCDC88A"	"MONDO:0020495"	"PEHO-like syndrome"	"OMIM:617507"	"PEHO syndrome-like"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25523"	"CCDC88A"	"OMIM:617507"	"PEHO-like syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-10 22:11:41"	""	""	"26917597, 30287594, 30392057, 37798908"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC88A0PEHOL"	"2023-11-30"
"GENCC_000106-HGNC_19967-OMIM_236600-HP_0000007-GENCC_100002"	"HGNC:19967"	"CCDC88C"	"MONDO:0009360"	"hydrocephalus, nonsyndromic, autosomal recessive 1"	"OMIM:236600"	"Hydrocephalus, congenital, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19967"	"CCDC88C"	"OMIM:236600"	"hydrocephalus"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 08:39:34"	""	""	"21031079, 23042809, 25043421, 28556411, 28976722, 29225145, 29341397"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC88C0Hydrocephalus"	"2023-11-30"
"GENCC_000106-HGNC_1591-OMIM_619141-HP_0000006-GENCC_100002"	"HGNC:1591"	"CCNF"	"MONDO:0030875"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 5"	"OMIM:619141"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1591"	"CCNF"	"OMIM:619141"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:10"	""	""	"27080313, 28281833, 28852778, 29102476, 30008669, 30371781"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCNF0ALS"	"2023-11-30"
"GENCC_000106-HGNC_1633-OMIM_613493-HP_0000007-GENCC_100002"	"HGNC:1633"	"CD19"	"MONDO:0013283"	"immunodeficiency, common variable, 3"	"OMIM:613493"	"Immunodeficiency, common variable, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1633"	"CD19"	"OMIM:613493"	"common variable immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"16672701, 17882224, 21159371, 27250108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD190CVID"	"2023-11-30"
"GENCC_000106-HGNC_11922-OMIM_615122-HP_0000007-GENCC_100002"	"HGNC:11922"	"CD27"	"MONDO:0014054"	"lymphoproliferative syndrome 2"	"OMIM:615122"	"Lymphoproliferative syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11922"	"CD27"	"OMIM:615122"	"autosomal recessive lymphoproliferative disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 09:25:38"	""	""	"25843314"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD270EBVlymph"	"2023-11-30"
"GENCC_000106-HGNC_14258-OMIM_607832-HP_0000006-GENCC_100002"	"HGNC:14258"	"CD2AP"	"MONDO:0011917"	"focal segmental glomerulosclerosis 3, susceptibility to"	"OMIM:607832"	"Glomerulosclerosis, focal segmental, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14258"	"CD2AP"	"OMIM:607832"	"inherited focal segmental glomerulosclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:00"	""	""	"10514378, 12764198, 15951437, 17713465, 19131354, 22187987, 23595123, 26467726, 26997877, 28658201, 30612599, 34408996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD2AP0FSGS"	"2023-11-30"
"GENCC_000106-HGNC_1663-OMIM_608404-HP_0000007-GENCC_100002"	"HGNC:1663"	"CD36"	"MONDO:0012031"	"platelet-type bleeding disorder 10"	"OMIM:608404"	"Platelet glycoprotein IV deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1663"	"CD36"	"OMIM:608404"	"platelet-type bleeding disorder 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"10890433, 11352982, 11499670, 11950861, 25330908, 28960434, 29572193, 29576254, 30905589, 31925433"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD360Platelet02"	"2023-11-30"
"GENCC_000106-HGNC_11935-OMIM_308230-HP_0001417-GENCC_100002"	"HGNC:11935"	"CD40LG"	"MONDO:0010626"	"hyper-IgM syndrome type 1"	"OMIM:308230"	"Immunodeficiency, X-linked, with hyper-IgM"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11935"	"CD40LG"	"OMIM:308230"	"hyper-IgM syndrome type 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 18:58:57"	""	""	"15319456, 15358621"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD40LG0HyperIgM"	"2023-11-30"
"GENCC_000106-HGNC_2665-OMIM_226300-HP_0000007-GENCC_100002"	"HGNC:2665"	"CD55"	"MONDO:0009174"	"protein-losing enteropathy"	"OMIM:226300"	"Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2665"	"CD55"	"OMIM:226300"	"protein-losing enteropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-27 13:00:53"	""	""	"28657829, 28657861"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD550CHAPLE"	"2023-11-30"
"GENCC_000106-HGNC_1689-OMIM_612300-HP_0000007-GENCC_100002"	"HGNC:1689"	"CD59"	"MONDO:0012858"	"primary CD59 deficiency"	"OMIM:612300"	"Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1689"	"CD59"	"OMIM:612300"	"primary CD59 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"1382994, 23149847, 24382084, 25716358"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD590CD59def"	"2023-11-30"
"GENCC_000106-HGNC_11937-OMIM_618261-HP_0000007-GENCC_100002"	"HGNC:11937"	"CD70"	"MONDO:0034054"	"severe combined immunodeficiency due to CD70 deficiency"	"OMIM:618261"	"Lymphoproliferative syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11937"	"CD70"	"OMIM:618261"	"severe combined immunodeficiency due to CD70 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:00"	""	""	"28011863, 28011864, 29434583, 32603431, 32849540"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD700EBVlymph"	"2023-11-30"
"GENCC_000106-HGNC_1698-OMIM_613501-HP_0000007-GENCC_100002"	"HGNC:1698"	"CD79A"	"MONDO:0013288"	"agammaglobulinemia 3, autosomal recessive"	"OMIM:613501"	"Agammaglobulinemia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1698"	"CD79A"	"OMIM:613501"	"agammaglobulinemia 3, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"10525050, 24481606"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD79A0Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_1706-OMIM_608957-HP_0000007-GENCC_100002"	"HGNC:1706"	"CD8A"	"MONDO:0012161"	"susceptibility to respiratory infections associated with CD8alpha chain mutation"	"OMIM:608957"	"Immunodeficiency 116"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1706"	"CD8A"	"OMIM:608957"	"susceptibility to respiratory infections associated with CD8alpha chain mutation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"11435463, 17658607, 21546492"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD8A0CID"	"2023-11-30"
"GENCC_000106-HGNC_1713-OMIM_224120-HP_0000007-GENCC_100002"	"HGNC:1713"	"CDAN1"	"MONDO:0009135"	"anemia, congenital dyserythropoietic, type 1a"	"OMIM:224120"	"Dyserythropoietic anemia, congenital, type Ia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1713"	"CDAN1"	"OMIM:224120"	"congenital dyserythropoietic anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-16 08:46:48"	""	""	"12434312, 16098079, 16141353, 23605369, 27432187"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDAN10Dyseryth-1"	"2023-11-30"
"GENCC_000106-HGNC_1736-OMIM_616737-HP_0000006-GENCC_100002"	"HGNC:1736"	"CDC42"	"MONDO:0014757"	"macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"	"OMIM:616737"	"Takenouchi-Kosaki syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1736"	"CDC42"	"OMIM:616737"	"macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 14:14:48"	""	""	"106211, 26386261, 26708094, 29394990, 31271789, 31601675, 31953712, 32231661"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC420Takenouc"	"2023-11-30"
"GENCC_000106-HGNC_1750-OMIM_211380-HP_0000007-GENCC_100002"	"HGNC:1750"	"CDH11"	"MONDO:0008885"	"Elsahy-Waters syndrome"	"OMIM:211380"	"Elsahy-Waters syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1750"	"CDH11"	"OMIM:211380"	"Elsahy-Waters syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-28 20:12:34"	""	""	"27431290, 28988429, 29271567"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH110ID"	"2023-11-30"
"GENCC_000106-HGNC_1754-OMIM_612580-HP_0000006-GENCC_100004"	"HGNC:1754"	"CDH15"	"MONDO:0012946"	"intellectual disability, autosomal dominant 3"	"OMIM:612580"	"Intellectual developmental disorder, autosomal dominant 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1754"	"CDH15"	"OMIM:612580"	"intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"19012874, 22825934, 26077850, 28940097, 31175295, 32604767, 33726816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH150ID"	"2023-11-30"
"GENCC_000106-HGNC_14550-OMIM_613660-HP_0000007-GENCC_100002"	"HGNC:14550"	"CDHR1"	"MONDO:0013348"	"cone-rod dystrophy 15"	"OMIM:613660"	"Retinitis pigmentosa 65"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14550"	"CDHR1"	"OMIM:613660"	"retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 21:57:08"	""	""	"20805371, 23591405, 26103963, 26766544, 26957898, 28041643, 29555955"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDHR10ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_19338-OMIM_618916-HP_0000006-GENCC_100002"	"HGNC:19338"	"CDK19"	"MONDO:0030059"	"developmental and epileptic encephalopathy, 87"	"OMIM:618916"	"Developmental and epileptic encephalopathy 87"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19338"	"CDK19"	"OMIM:618916"	"developmental and epileptic encephalopathy, 87"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-17 13:52:00"	""	""	"20563892, 32330417, 33495529"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDK190CDK19rel"	"2023-11-30"
"GENCC_000106-HGNC_1774-OMIM_616342-HP_0000007-GENCC_100002"	"HGNC:1774"	"CDK5"	"MONDO:0014596"	"lissencephaly 7 with cerebellar hypoplasia"	"OMIM:616342"	"?Lissencephaly 7 with cerebellar hypoplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1774"	"CDK5"	"OMIM:616342"	"lissencephaly 7 with cerebellar hypoplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"15067135, 23085039, 25409143, 25560765, 8855328"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDK50?Lissenc"	"2023-11-30"
"GENCC_000106-HGNC_1779-OMIM_618748-HP_0000006-GENCC_100002"	"HGNC:1779"	"CDK8"	"MONDO:0032897"	"intellectual developmental disorder with hypotonia and behavioral abnormalities"	"OMIM:618748"	"Intellectual developmental disorder with hypotonia and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1779"	"CDK8"	"OMIM:618748"	"intellectual developmental disorder with hypotonia and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:10"	""	""	"30905399, 31742715"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDK80Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_1785-OMIM_610755-HP_0000006-GENCC_100002"	"HGNC:1785"	"CDKN1B"	"MONDO:0012552"	"multiple endocrine neoplasia type 4"	"OMIM:610755"	"Multiple endocrine neoplasia, type IV"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1785"	"CDKN1B"	"OMIM:610755"	"multiple endocrine neoplasia type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 15:24:47"	""	""	"17030811, 24819502, 30990521, 33760487, 35274913, 35323929, 35355569, 36256846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDKN1B0MEN4"	"2023-11-30"
"GENCC_000106-HGNC_1786-OMIM_130650-HP_0000006-GENCC_100002"	"HGNC:1786"	"CDKN1C"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1786"	"CDKN1C"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-07 14:23:39"	""	""	"20301568, 20503313, 24335096, 24911853"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDKN1C0Beckwith"	"2023-11-30"
"GENCC_000106-HGNC_17104-OMIM_614226-HP_0000006-GENCC_100002"	"HGNC:17104"	"CDON"	"MONDO:0013642"	"holoprosencephaly 11"	"OMIM:614226"	"Holoprosencephaly 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17104"	"CDON"	"OMIM:614226"	"holoprosencephaly 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:01"	""	""	"12620190, 21802063, 26529631, 26539891, 26728615, 29992659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDON0Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_31948-OMIM_614614-HP_0000006-GENCC_100002"	"HGNC:31948"	"CEACAM16"	"MONDO:0013823"	"autosomal dominant nonsyndromic hearing loss 4B"	"OMIM:614614"	"Deafness, autosomal dominant 4B"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31948"	"CEACAM16"	"OMIM:614614"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-13 12:50:47"	""	""	"21368133, 25080593, 25589040, 25589050, 26648831, 28000701"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEACAM160Deafness"	"2023-11-30"
"GENCC_000106-HGNC_31948-OMIM_618410-HP_0000007-GENCC_100002"	"HGNC:31948"	"CEACAM16"	"MONDO:0032732"	"hearing loss, autosomal recessive 113"	"OMIM:618410"	"Deafness, autosomal recessive 113"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:31948"	"CEACAM16"	"OMIM:618410"	"hearing loss, autosomal recessive 113"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-06-03 13:57:15"	""	""	"29703829, 30514912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEACAM160Deafness02"	"2023-11-30"
"GENCC_000106-HGNC_1836-OMIM_245480-HP_0000007-GENCC_100002"	"HGNC:1836"	"CEBPE"	"MONDO:0044207"	"specific granule deficiency 1"	"OMIM:245480"	"Specific granule deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1836"	"CEBPE"	"OMIM:245480"	"specific granule deficiency 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"10216107, 10359588, 11313242, 11435463, 26019275, 32391290, 9371821"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEBPE0SpecificGranule"	"2023-11-30"
"GENCC_000106-HGNC_2550-OMIM_619561-HP_0000006-GENCC_100002"	"HGNC:2550"	"CELF2"	"MONDO:0030453"	"developmental and epileptic encephalopathy 97"	"OMIM:619561"	"Developmental and epileptic encephalopathy 97"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2550"	"CELF2"	"OMIM:619561"	"developmental and epileptic encephalopathy 97"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:27:16"	""	""	"33131106"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CELF20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_1857-OMIM_243605-HP_0000007-GENCC_100002"	"HGNC:1857"	"CENPF"	"MONDO:0009477"	"Stromme syndrome"	"OMIM:243605"	"Stromme syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1857"	"CENPF"	"OMIM:243605"	"Stromme syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 20:44:55"	""	""	"205648, 234880, 251226, 25564561, 26820108, 282450"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CENPF0StrommeS"	"2023-11-30"
"GENCC_000106-HGNC_25787-OMIM_618702-HP_0000007-GENCC_100004"	"HGNC:25787"	"CENPT"	"MONDO:0032875"	"short stature and microcephaly with genital anomalies"	"OMIM:618702"	"?Short stature and microcephaly with genital anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25787"	"CENPT"	"OMIM:618702"	"short stature and microcephaly with genital anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:57"	""	""	"29228025"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CENPT0CENPTrel"	"2023-11-30"
"GENCC_000106-HGNC_29086-OMIM_614673-HP_0000007-GENCC_100002"	"HGNC:29086"	"CEP135"	"MONDO:0013849"	"microcephaly 8, primary, autosomal recessive"	"OMIM:614673"	"Microcephaly 8, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29086"	"CEP135"	"OMIM:614673"	"microcephaly 8, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-06 14:53:31"	""	""	"22521416, 26657937, 30214071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP1350Seckel"	"2023-11-30"
"GENCC_000106-HGNC_29182-OMIM_614845-HP_0000007-GENCC_100002"	"HGNC:29182"	"CEP164"	"MONDO:0013917"	"nephronophthisis 15"	"OMIM:614845"	"Nephronophthisis 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29182"	"CEP164"	"OMIM:614845"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-16 21:15:10"	""	""	"22863007, 28125082, 31248650, 32055034, 32367404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP1640Ciliopathy"	"2023-11-30"
"GENCC_000106-HGNC_12370-OMIM_614464-HP_0000007-GENCC_100002"	"HGNC:12370"	"CEP41"	"MONDO:0013763"	"Joubert syndrome 15"	"OMIM:614464"	"Joubert syndrome 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12370"	"CEP41"	"OMIM:614464"	"Joubert syndrome 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22246503"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP410Joubert"	"2023-11-30"
"GENCC_000106-HGNC_25815-OMIM_614728-HP_0000007-GENCC_100002"	"HGNC:25815"	"CEP63"	"MONDO:0013871"	"Seckel syndrome 6"	"OMIM:614728"	"?Seckel syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25815"	"CEP63"	"OMIM:614728"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-06 15:37:56"	""	""	"21983783, 23936128, 26158450, 26400686, 33726816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP630Seckel"	"2023-11-30"
"GENCC_000106-HGNC_21638-OMIM_618873-HP_0000006-GENCC_100002"	"HGNC:21638"	"CEP85L"	"MONDO:0030031"	"lissencephaly 10"	"OMIM:618873"	"Lissencephaly 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21638"	"CEP85L"	"OMIM:618873"	"lissencephaly 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-28 02:52:14"	""	""	"32097630"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP85L0CEP85Lrel"	"2023-11-30"
"GENCC_000106-HGNC_14253-OMIM_616230-HP_0000007-GENCC_100002"	"HGNC:14253"	"CERS1"	"MONDO:0014545"	"progressive myoclonic epilepsy type 8"	"OMIM:616230"	"Epilepsy, progressive myoclonic, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14253"	"CERS1"	"OMIM:616230"	"progressive myoclonic epilepsy type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 13:09:41"	""	""	"23074226, 24782409, 27618929, 30800706, 33798445"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CERS10Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_1037-OMIM_612924-HP_0000006-GENCC_100002"	"HGNC:1037"	"CFB"	"MONDO:0013042"	"atypical hemolytic-uremic syndrome with B factor anomaly"	"OMIM:612924"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 4}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1037"	"CFB"	"OMIM:612924"	"atypical hemolytic-uremic syndrome with B factor anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-04 14:03:33"	""	""	"17182750, 19584399, 20513133, 20530807, 21902819, 23624872, 24652797, 2496628"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFB0HemolyticUremic"	"2023-11-30"
"GENCC_000106-HGNC_2771-OMIM_613912-HP_0000007-GENCC_100002"	"HGNC:2771"	"CFD"	"MONDO:0013487"	"recurrent Neisseria infections due to factor D deficiency"	"OMIM:613912"	"Complement factor D deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2771"	"CFD"	"OMIM:613912"	"recurrent Neisseria infections due to factor D deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"11457876, 11724962, 16527897, 31440263"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFD0AltCompDef"	"2023-11-30"
"GENCC_000106-HGNC_5394-OMIM_610984-HP_0000007-GENCC_100002"	"HGNC:5394"	"CFI"	"MONDO:0012594"	"complement factor I deficiency"	"OMIM:610984"	"Complement factor I deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5394"	"CFI"	"OMIM:610984"	"complement factor I deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-12 07:21:24"	""	""	"19065647, 21316765, 22710145"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFI0SecondaryC3Def"	"2023-11-30"
"GENCC_000106-HGNC_8864-OMIM_312060-HP_0001417-GENCC_100002"	"HGNC:8864"	"CFP"	"MONDO:0010713"	"properdin deficiency, X-linked"	"OMIM:312060"	"Properdin deficiency, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8864"	"CFP"	"OMIM:312060"	"properdin deficiency, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:01"	""	""	"10698340, 10909851, 19328743, 22229731, 8530058, 9476131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFP0AltCompDef"	"2023-11-30"
"GENCC_000106-HGNC_20311-OMIM_616579-HP_0000006-GENCC_100002"	"HGNC:20311"	"CHAMP1"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20311"	"CHAMP1"	"OMIM:616579"	"intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-21 21:14:10"	""	""	"26340335, 26751395, 27148580, 33059813, 34021018, 34257719, 35271727"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHAMP10ID"	"2023-11-30"
"GENCC_000106-HGNC_1919-OMIM_617159-HP_0000006-GENCC_100002"	"HGNC:1919"	"CHD4"	"MONDO:0014946"	"Sifrim-Hitz-Weiss syndrome"	"OMIM:617159"	"Sifrim-Hitz-Weiss syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1919"	"CHD4"	"OMIM:617159"	"Sifrim-Hitz-Weiss syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 19:36:42"	""	""	"26116663, 27479907, 27616479, 31388190"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD40ID"	"2023-11-30"
"GENCC_000106-HGNC_20626-OMIM_214800-HP_0000006-GENCC_100002"	"HGNC:20626"	"CHD7"	"MONDO:0008965"	"CHARGE syndrome"	"OMIM:214800"	"CHARGE syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20626"	"CHD7"	"OMIM:214800"	"CHARGE syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:37:26"	""	""	"16207732, 20186815, 21158681, 21378379, 22461308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD70CHARGE"	"2023-11-30"
"GENCC_000106-HGNC_1943-OMIM_604356-HP_0000006-GENCC_100004"	"HGNC:1943"	"CHN1"	"MONDO:0011444"	"Duane retraction syndrome 2"	"OMIM:604356"	"Duane retraction syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1943"	"CHN1"	"OMIM:604356"	"Duane retraction syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-10-23 19:38:05"	""	""	"18653847, 21555619, 26633542, 29031989, 31780800, 37853116"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHN10DuaneRet"	"2023-11-30"
"GENCC_000106-HGNC_1961-OMIM_616313-HP_0000006-GENCC_100002"	"HGNC:1961"	"CHRNB1"	"MONDO:0014581"	"congenital myasthenic syndrome 2A"	"OMIM:616313"	"Myasthenic syndrome, congenital, 2A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1961"	"CHRNB1"	"OMIM:616313"	"postsynaptic congenital myasthenic syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:01"	""	""	"12141316, 14719537, 15907919, 8651643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNB10CMS"	"2023-11-30"
"GENCC_000106-HGNC_1961-OMIM_616314-HP_0000007-GENCC_100002"	"HGNC:1961"	"CHRNB1"	"MONDO:0014582"	"congenital myasthenic syndrome 2C"	"OMIM:616314"	"?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1961"	"CHRNB1"	"OMIM:616314"	"postsynaptic congenital myasthenic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-23 08:44:46"	""	""	"10562302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNB10CMS02"	"2023-11-30"
"GENCC_000106-HGNC_1965-OMIM_616321-HP_0000006-GENCC_100002"	"HGNC:1965"	"CHRND"	"MONDO:0014583"	"congenital myasthenic syndrome 3A"	"OMIM:616321"	"?Myasthenic syndrome, congenital, 3A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1965"	"CHRND"	"OMIM:616321"	"postsynaptic congenital myasthenic syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:01"	""	""	"11782989, 12141316, 25264167, 27375219, 27779167"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRND0CMS"	"2023-11-30"
"GENCC_000106-HGNC_1966-OMIM_605809-HP_0000006-GENCC_100002"	"HGNC:1966"	"CHRNE"	"MONDO:0011600"	"congenital myasthenic syndrome 4A"	"OMIM:605809"	"Myasthenic syndrome, congenital, 4A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1966"	"CHRNE"	"OMIM:605809"	"postsynaptic congenital myasthenic syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:01"	""	""	"12141316, 20222328, 27375219, 7531341"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNE0CMS02"	"2023-11-30"
"GENCC_000106-HGNC_16920-OMIM_618267-HP_0000007-GENCC_100002"	"HGNC:16920"	"CIB1"	"MONDO:0032644"	"epidermodysplasia verruciformis, susceptibility to, 3"	"OMIM:618267"	"{Epidermodysplasia verruciformis, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16920"	"CIB1"	"OMIM:618267"	"epidermodysplasia verruciformis, susceptibility to, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:01"	""	""	"30068544, 30503243"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CIB10EpidermDysVerr"	"2023-11-30"
"GENCC_000106-HGNC_7067-OMIM_209920-HP_0000007-GENCC_100002"	"HGNC:7067"	"CIITA"	"MONDO:0008855"	"MHC class II deficiency"	"OMIM:209920"	"MHC class II deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7067"	"CIITA"	"OMIM:209920"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"26271388, 8402893, 8624807, 9099848"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CIITA0MGH2"	"2023-11-30"
"GENCC_000106-HGNC_17412-OMIM_610313-HP_0000007-GENCC_100002"	"HGNC:17412"	"CLCF1"	"MONDO:0012467"	"cold-induced sweating syndrome 2"	"OMIM:610313"	"Cold-induced sweating syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17412"	"CLCF1"	"OMIM:610313"	"cold-induced sweating syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-16 11:17:30"	""	""	"16782820, 16952376, 20400119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCF10Cold-Ind02"	"2023-11-30"
"GENCC_000106-HGNC_2019-OMIM_255700-HP_0000007-GENCC_100002"	"HGNC:2019"	"CLCN1"	"MONDO:0009715"	"myotonia congenita, autosomal recessive"	"OMIM:255700"	"Myotonia congenita, recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2019"	"CLCN1"	"OMIM:255700"	"Thomsen and Becker disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-24 13:32:37"	""	""	"17932099, 18337100, 22094069, 23739125"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN10MyoCon"	"2023-11-30"
"GENCC_000106-HGNC_2019-OMIM_160800-HP_0000006-GENCC_100002"	"HGNC:2019"	"CLCN1"	"MONDO:0008055"	"myotonia congenita, autosomal dominant"	"OMIM:160800"	"Myotonia levior"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2019"	"CLCN1"	"OMIM:160800"	"Thomsen and Becker disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-24 13:32:41"	""	""	"17932099, 18337100, 18579381, 22094069, 23739125, 29424939, 9736777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN10MyoCon02"	"2023-11-30"
"GENCC_000106-HGNC_2020-OMIM_615651-HP_0000007-GENCC_100002"	"HGNC:2020"	"CLCN2"	"MONDO:0014292"	"leukoencephalopathy with mild cerebellar ataxia and white matter edema"	"OMIM:615651"	"Leukoencephalopathy with ataxia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2020"	"CLCN2"	"OMIM:615651"	"leukoencephalopathy with mild cerebellar ataxia and white matter edema"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-08 15:50:55"	""	""	"23707145, 326661"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN20Leukoeneph"	"2023-11-30"
"GENCC_000106-HGNC_2022-OMIM_300114-HP_0001417-GENCC_100002"	"HGNC:2022"	"CLCN4"	"MONDO:0010250"	"intellectual disability, X-linked 49"	"OMIM:300114"	"Raynaud-Claes syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2022"	"CLCN4"	"OMIM:300114"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-25 20:08:31"	""	""	"23647072, 27550844, 29314583, 30525188, 31780880, 32139178, 32960281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN40CLCN4rel"	"2023-11-30"
"GENCC_000106-HGNC_2025-OMIM_611490-HP_0000007-GENCC_100002"	"HGNC:2025"	"CLCN7"	"MONDO:0012676"	"autosomal recessive osteopetrosis 4"	"OMIM:611490"	"Osteopetrosis, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2025"	"CLCN7"	"OMIM:611490"	"autosomal recessive osteopetrosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-19 17:05:33"	""	""	"11207362, 14584882, 19953639, 24108692"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN70Osteopetrosis02"	"2023-11-30"
"GENCC_000106-HGNC_2027-OMIM_607364-HP_0000007-GENCC_100002"	"HGNC:2027"	"CLCNKB"	"MONDO:0011822"	"Bartter disease type 3"	"OMIM:607364"	"Bartter syndrome, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2027"	"CLCNKB"	"OMIM:607364"	"Bartter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-19 22:29:24"	""	""	"11893344, 17622951, 19096086, 21865213, 219362, 282762, 28381550, 29254190, 30999883, 8640224"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCNKB0Bartter"	"2023-11-30"
"GENCC_000106-HGNC_8514-OMIM_619328-HP_0000006-GENCC_100002"	"HGNC:8514"	"CLDN11"	"MONDO:0025701"	"leukodystrophy, hypomyelinating, 22"	"OMIM:619328"	"Leukodystrophy, hypomyelinating, 22"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8514"	"CLDN11"	"OMIM:619328"	"leukodystrophy, hypomyelinating, 22"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 11:35:00"	""	""	"33313762"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLDN110HLD"	"2023-11-30"
"GENCC_000106-HGNC_24039-OMIM_615237-HP_0000007-GENCC_100002"	"HGNC:24039"	"CLMP"	"MONDO:0020718"	"congenital short bowel syndrome, autosomal recessive"	"OMIM:615237"	"Congenital short bowel syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24039"	"CLMP"	"OMIM:615237"	"congenital short bowel syndrome, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:51"	""	""	"22155368, 23460781, 27352967, 27720179"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLMP0Congenit"	"2023-11-30"
"GENCC_000106-HGNC_33939-OMIM_619174-HP_0000007-GENCC_100004"	"HGNC:33939"	"CLRN2"	"MONDO:0030905"	"hearing loss, autosomal recessive 117"	"OMIM:619174"	"Deafness, autosomal recessive 117"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33939"	"CLRN2"	"OMIM:619174"	"hearing loss, autosomal recessive 117"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:56"	""	""	"33496845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLRN20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_13164-OMIM_602668-HP_0000006-GENCC_100002"	"HGNC:13164"	"CNBP"	"MONDO:0011266"	"myotonic dystrophy type 2"	"OMIM:602668"	"Myotonic dystrophy 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13164"	"CNBP"	"OMIM:602668"	"myotonic dystrophy type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:02"	""	""	"11486088, 12588852, 14505273, 17335846, 19605641, 20971734"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNBP0MD"	"2023-11-30"
"GENCC_000106-HGNC_2150-OMIM_216900-HP_0000007-GENCC_100002"	"HGNC:2150"	"CNGA3"	"MONDO:0009003"	"achromatopsia 2"	"OMIM:216900"	"Achromatopsia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2150"	"CNGA3"	"OMIM:216900"	"achromatopsia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 19:59:08"	""	""	"11536077, 14757870, 15712225, 24903488, 25637600, 26992781, 9662398"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNGA30Achromatopsia"	"2023-11-30"
"GENCC_000106-HGNC_103-OMIM_616418-HP_0000007-GENCC_100002"	"HGNC:103"	"CNNM2"	"MONDO:0020787"	"hypomagnesemia, seizures, and intellectual disability 1"	"OMIM:616418"	"Hypomagnesemia, seizures, and impaired intellectual development 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:103"	"CNNM2"	"OMIM:616418"	"hypomagnesemia, seizures, and intellectual disability 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-25 20:10:03"	""	""	"24699222, 30026055"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNNM20Hypomagnesemia02"	"2023-11-30"
"GENCC_000106-HGNC_105-OMIM_217080-HP_0000007-GENCC_100002"	"HGNC:105"	"CNNM4"	"MONDO:0009007"	"Jalili syndrome"	"OMIM:217080"	"Jalili syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:105"	"CNNM4"	"OMIM:217080"	"Jalili syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-15 07:17:28"	""	""	"19200525, 19200527, 23105016, 23362848, 24194943, 24339795, 24625443, 25613845, 26047050, 26355662, 27419834, 29322253, 29421602, 30054919"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNNM40Jalili"	"2023-11-30"
"GENCC_000106-HGNC_7878-OMIM_618608-HP_0000006-GENCC_100002"	"HGNC:7878"	"CNOT2"	"MONDO:0032832"	"intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies"	"OMIM:618608"	"Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7878"	"CNOT2"	"OMIM:618608"	"intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-19 07:22:57"	""	""	"28191890, 30768759, 31145527, 31512373, 36224108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNOT20Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_7879-OMIM_618672-HP_0000006-GENCC_100002"	"HGNC:7879"	"CNOT3"	"MONDO:0032864"	"intellectual developmental disorder with speech delay, autism, and dysmorphic facies"	"OMIM:618672"	"Intellectual developmental disorder with speech delay, autism, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7879"	"CNOT3"	"OMIM:618672"	"intellectual developmental disorder with speech delay, autism, and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-24 22:30:46"	""	""	"22495309, 25363768, 27824329, 28135719, 28263302, 31201375, 31231135, 31238879"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNOT30Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_2172-OMIM_615400-HP_0000007-GENCC_100002"	"HGNC:2172"	"CNTN2"	"MONDO:0014167"	"epilepsy, familial adult myoclonic, 5"	"OMIM:615400"	"Epilepsy, early-onset, 5, with or without developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2172"	"CNTN2"	"OMIM:615400"	"benign adult familial myoclonic epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"11178983, 1287821998, 12975355, 23518707, 28397838"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNTN20Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_13830-OMIM_610042-HP_0000007-GENCC_100002"	"HGNC:13830"	"CNTNAP2"	"MONDO:0012400"	"cortical dysplasia-focal epilepsy syndrome"	"OMIM:610042"	"Pitt-Hopkins like syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13830"	"CNTNAP2"	"OMIM:610042"	"Pitt-Hopkins-like syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 15:08:37"	""	""	"19896112, 21827697, 21962519, 24083349, 25045150, 26843181, 27439707, 37183190"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNTNAP20PittHopkinslike"	"2023-11-30"
"GENCC_000106-HGNC_2180-OMIM_601369-HP_0000006-GENCC_100002"	"HGNC:2180"	"COCH"	"MONDO:0011058"	"autosomal dominant nonsyndromic hearing loss 9"	"OMIM:601369"	"Deafness, autosomal dominant 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2180"	"COCH"	"OMIM:601369"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 13:00:16"	""	""	"10400989, 10891988, 16078052, 20228067, 23767834, 25049087, 251472, 25230692, 25780252, 25788563, 26256111, 9806553, 9931344"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COCH0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2180-OMIM_618094-HP_0000007-GENCC_100002"	"HGNC:2180"	"COCH"	"MONDO:0054860"	"hearing loss, autosomal recessive 110"	"OMIM:618094"	"?Deafness, autosomal recessive 110"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2180"	"COCH"	"OMIM:618094"	"hearing loss, autosomal recessive 110"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-22 12:31:12"	""	""	"21073934, 282874, 29449721, 31126177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COCH0Deafness02"	"2023-11-30"
"GENCC_000106-HGNC_18620-OMIM_613489-HP_0000007-GENCC_100002"	"HGNC:18620"	"COG4"	"MONDO:0013281"	"COG4-congenital disorder of glycosylation"	"OMIM:613489"	"Congenital disorder of glycosylation, type IIj"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18620"	"COG4"	"OMIM:613489"	"congenital disorder of glycosylation type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:29:31"	""	""	"19494034, 21185756"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COG40COG4CDG"	"2023-11-30"
"GENCC_000106-HGNC_18620-OMIM_618150-HP_0000006-GENCC_100002"	"HGNC:18620"	"COG4"	"MONDO:0019407"	"microcephalic osteodysplastic dysplasia, Saul-Wilson type"	"OMIM:618150"	"Saul-Wilson syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18620"	"COG4"	"OMIM:618150"	"microcephalic osteodysplastic dysplasia, Saul-Wilson type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:11"	""	""	"30290151"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COG40COG4SWILS"	"2023-11-30"
"GENCC_000106-HGNC_2187-OMIM_215150-HP_0000007-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0044206"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"OMIM:215150"	"Otospondylomegaepiphyseal dysplasia, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2187"	"COL11A2"	"OMIM:215150"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-03 06:51:52"	""	""	"10581026, 10677296, 11668593, 21204229, 25633957"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL11A20OSME"	"2023-11-30"
"GENCC_000106-HGNC_2188-OMIM_616471-HP_0000006-GENCC_100002"	"HGNC:2188"	"COL12A1"	"MONDO:0034022"	"Bethlem myopathy 2"	"OMIM:616471"	"Bethlem myopathy 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2188"	"COL12A1"	"OMIM:616471"	"Bethlem myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-15 13:52:33"	""	""	"24334604, 24334769, 27348394, 31273343"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL12A10TypeVICollagen"	"2023-11-30"
"GENCC_000106-HGNC_2188-OMIM_616470-HP_0000007-GENCC_100002"	"HGNC:2188"	"COL12A1"	"MONDO:0014654"	"Ullrich congenital muscular dystrophy 2"	"OMIM:616470"	"?Ullrich congenital muscular dystrophy 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2188"	"COL12A1"	"OMIM:616470"	"Ullrich congenital muscular dystrophy 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-30 20:55:22"	""	""	"24334604, 24334769, 27348394, 28973083, 31230720, 8601036"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL12A10TypeVICollagen02"	"2023-11-30"
"GENCC_000106-HGNC_2194-OMIM_122400-HP_0000006-GENCC_100002"	"HGNC:2194"	"COL17A1"	"MONDO:0007381"	"epithelial recurrent erosion dystrophy"	"OMIM:122400"	"Epithelial recurrent erosion dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2194"	"COL17A1"	"OMIM:122400"	"epithelial recurrent erosion dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:02"	""	""	"25676728, 26786512, 27309958"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL17A10EpithelErosDys"	"2023-11-30"
"GENCC_000106-HGNC_2194-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:2194"	"COL17A1"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2194"	"COL17A1"	"OMIM:226650"	"generalized junctional epidermolysis bullosa non-Herlitz type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:10"	""	""	"16473856, 20301304, 21295274, 21357940, 8669466"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL17A10JEB"	"2023-11-30"
"GENCC_000106-HGNC_2197-OMIM_114000-HP_0000006-GENCC_100002"	"HGNC:2197"	"COL1A1"	"MONDO:0007244"	"Caffey disease"	"OMIM:114000"	"Caffey disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2197"	"COL1A1"	"OMIM:114000"	"Caffey disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:12"	""	""	"158643448, 15864348, 17309652, 18553566, 18704262, 6787897"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL1A10Caffey"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_609162-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0012206"	"spondyloepiphyseal dysplasia with metatarsal shortening"	"OMIM:609162"	"Czech dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:609162"	"Czech dysplasia, metatarsal type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:12"	""	""	"17726487, 18553548, 19764028, 23448908, 8024616, 8244341"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10CzechDys"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_156550-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0007987"	"Kniest dysplasia"	"OMIM:156550"	"Kniest dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:156550"	"Kniest dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 12:14:34"	""	""	"10406661, 15895462, 17347327, 25604898, 26443184, 26626311, 7981752, 8893763, 9468540"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10KniestDys"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_150600-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0007885"	"Legg-Calve-Perthes disease"	"OMIM:150600"	"Legg-Calve-Perthes disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:150600"	"Legg-Calve-Perthes disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:12"	""	""	"150600, 15930420, 17394019, 20204389, 21442341, 21671384, 24949742, 25050885, 29750297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10LeggCalve"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_604864-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0011496"	"mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"	"OMIM:604864"	"Osteoarthritis with mild chondrodysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:604864"	"mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:12"	""	""	"11708863, 1975693, 2300123, 26443184, 26626311, 7757086, 8129781"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10Osteoarthritis"	"2023-11-30"
"GENCC_000106-HGNC_2201-OMIM_130050-HP_0000006-GENCC_100002"	"HGNC:2201"	"COL3A1"	"MONDO:0007524"	"autosomal dominant Ehlers-Danlos syndrome, vascular type"	"OMIM:130050"	"Ehlers-Danlos syndrome, vascular type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2201"	"COL3A1"	"OMIM:130050"	"Ehlers-Danlos syndrome, vascular type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-10 15:43:17"	""	""	"16012458, 24922459"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL3A10EhlersDanlosIV"	"2023-11-30"
"GENCC_000106-HGNC_2201-OMIM_618343-HP_0000007-GENCC_100002"	"HGNC:2201"	"COL3A1"	"MONDO:0032688"	"polymicrogyria with or without vascular-type Ehlers-Danlos syndrome"	"OMIM:618343"	"Polymicrogyria with or without vascular-type EDS"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2201"	"COL3A1"	"OMIM:618343"	"polymicrogyria with or without vascular-type Ehlers-Danlos syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-19 10:12:52"	""	""	"19455184, 25205403, 28258187, 28742248"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL3A10Tubulinopathy"	"2023-11-30"
"GENCC_000106-HGNC_2204-OMIM_203780-HP_0000007-GENCC_100002"	"HGNC:2204"	"COL4A3"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"OMIM:203780"	"Alport syndrome 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2204"	"COL4A3"	"OMIM:203780"	"Alport syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 19:48:40"	""	""	"24033287, 24052634, 24854265, 25575550, 8956999"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL4A30Alport"	"2023-11-30"
"GENCC_000106-HGNC_2205-OMIM_616351-HP_0000006-GENCC_100002"	"HGNC:2205"	"CERT1"	"MONDO:0014599"	"intellectual disability, autosomal dominant 34"	"OMIM:616351"	"Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2205"	"CERT1"	"OMIM:616351"	"intellectual disability, autosomal dominant 34"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:33:33"	""	""	"23033978, 25356899, 25533962, 28135719, 28191890, 28628100, 28867141"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CERT10ID"	"2023-11-30"
"GENCC_000106-HGNC_2206-OMIM_203780-HP_0000007-GENCC_100002"	"HGNC:2206"	"COL4A4"	"MONDO:0008762"	"autosomal recessive Alport syndrome"	"OMIM:203780"	"Alport syndrome 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2206"	"COL4A4"	"OMIM:203780"	"Alport syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 15:22:57"	""	""	"19129241, 21196518, 24033287, 24052634, 24522496, 24854265, 7987396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL4A40Alport"	"2023-11-30"
"GENCC_000106-HGNC_2207-OMIM_301050-HP_0001417-GENCC_100002"	"HGNC:2207"	"COL4A5"	"MONDO:0010520"	"X-linked Alport syndrome"	"OMIM:301050"	"Alport syndrome 1, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2207"	"COL4A5"	"OMIM:301050"	"Alport syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 16:32:18"	""	""	"10752524, 14514738, 24033287, 24854265, 25183659, 26809805, 9195222"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL4A50Alport"	"2023-11-30"
"GENCC_000106-HGNC_2210-OMIM_130010-HP_0000006-GENCC_100002"	"HGNC:2210"	"COL5A2"	"MONDO:0019568"	"Ehlers-Danlos syndrome, classic type, 2"	"OMIM:130010"	"Ehlers-Danlos syndrome, classic type, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2210"	"COL5A2"	"OMIM:130010"	"Ehlers-Danlos syndrome, classic type, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 17:29:36"	""	""	"23587214"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL5A20EDS0old"	"2023-11-30"
"GENCC_000106-HGNC_2217-OMIM_614134-HP_0000007-GENCC_100002"	"HGNC:2217"	"COL9A1"	"MONDO:0013590"	"Stickler syndrome, type 4"	"OMIM:614134"	"Stickler syndrome, type IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2217"	"COL9A1"	"OMIM:614134"	"Stickler syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-23 12:29:48"	""	""	"16909383, 21421862, 8197187, 8464901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL9A10Stickler"	"2023-11-30"
"GENCC_000106-HGNC_2218-OMIM_600204-HP_0000006-GENCC_100002"	"HGNC:2218"	"COL9A2"	"MONDO:0010844"	"epiphyseal dysplasia, multiple, 2"	"OMIM:600204"	"Epiphyseal dysplasia, multiple, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2218"	"COL9A2"	"OMIM:600204"	"epiphyseal dysplasia, multiple, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-29 14:34:50"	""	""	"10364514, 11968079, 12244547, 21922596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL9A20EpiphysDys"	"2023-11-30"
"GENCC_000106-HGNC_2218-OMIM_614284-HP_0000007-GENCC_100002"	"HGNC:2218"	"COL9A2"	"MONDO:0013666"	"Stickler syndrome, type 5"	"OMIM:614284"	"?Stickler syndrome, type V"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2218"	"COL9A2"	"OMIM:614284"	"Stickler syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:16:26"	""	""	"20686772, 21671392, 33356723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL9A20Stickler"	"2023-11-30"
"GENCC_000106-HGNC_26182-OMIM_618360-HP_0000007-GENCC_100002"	"HGNC:26182"	"COLGALT1"	"MONDO:0100105"	"brain small vessel disease 3"	"OMIM:618360"	"Brain small vessel disease 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26182"	"COLGALT1"	"OMIM:618360"	"brain small vessel disease 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:03"	""	""	"30412317, 33709034"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COLGALT10COLGALT1rel"	"2023-11-30"
"GENCC_000106-HGNC_25223-OMIM_607426-HP_0000007-GENCC_100002"	"HGNC:25223"	"COQ2"	"MONDO:0011829"	"coenzyme Q10 deficiency, primary, 1"	"OMIM:607426"	"Coenzyme Q10 deficiency, primary, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25223"	"COQ2"	"OMIM:607426"	"coenzyme Q10 deficiency, primary, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 05:50:05"	""	""	"16400613, 17374725, 17855635, 20495179, 23343605, 25564041, 27493029, 28044327, 29373990"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COQ20CoQ10Def"	"2023-11-30"
"GENCC_000106-HGNC_19693-OMIM_616276-HP_0000007-GENCC_100002"	"HGNC:19693"	"COQ4"	"MONDO:0014562"	"neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"	"OMIM:616276"	"Coenzyme Q10 deficiency, primary, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19693"	"COQ4"	"OMIM:616276"	"neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-26 12:36:07"	""	""	"25126051, 25658047, 26185144"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COQ40CoQ10Def"	"2023-11-30"
"GENCC_000106-HGNC_20233-OMIM_614650-HP_0000007-GENCC_100002"	"HGNC:20233"	"COQ6"	"MONDO:0013836"	"familial steroid-resistant nephrotic syndrome with sensorineural deafness"	"OMIM:614650"	"Coenzyme Q10 deficiency, primary, 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20233"	"COQ6"	"OMIM:614650"	"familial steroid-resistant nephrotic syndrome with sensorineural deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:05:16"	""	""	"21540551, 24140869, 25126048"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COQ60CoQ10Def"	"2023-11-30"
"GENCC_000106-HGNC_2295-OMIM_604290-HP_0000007-GENCC_100002"	"HGNC:2295"	"CP"	"MONDO:0011426"	"aceruloplasminemia"	"OMIM:604290"	"Aceruloplasminemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2295"	"CP"	"OMIM:604290"	"aceruloplasminemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-28 11:33:34"	""	""	"10449129, 16629161, 20801540"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CP0Hypoceruplas"	"2023-11-30"
"GENCC_000106-HGNC_17245-OMIM_614417-HP_0000006-GENCC_100004"	"HGNC:17245"	"CPA6"	"MONDO:0013741"	"familial temporal lobe epilepsy 5"	"OMIM:614417"	"Epilepsy, familial temporal lobe, 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17245"	"CPA6"	"OMIM:614417"	"familial temporal lobe epilepsy 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-29 08:30:13"	""	""	"21922598, 23105115, 25875328, 26648591, 27504264, 27781031, 29924869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPA60Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_2309-OMIM_617976-HP_0000007-GENCC_100002"	"HGNC:2309"	"CPLX1"	"MONDO:0033372"	"developmental and epileptic encephalopathy, 63"	"OMIM:617976"	"Developmental and epileptic encephalopathy 63"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2309"	"CPLX1"	"OMIM:617976"	"developmental and epileptic encephalopathy, 63"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"11163241, 26539891, 28422131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPLX10Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_18540-OMIM_616282-HP_0000006-GENCC_100002"	"HGNC:18540"	"CPT1C"	"MONDO:0014568"	"hereditary spastic paraplegia 73"	"OMIM:616282"	"?Spastic paraplegia 73, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18540"	"CPT1C"	"OMIM:616282"	"hereditary spastic paraplegia 73"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:04"	""	""	"23973755, 25751282, 30564185, 30911584"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPT1C0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_2336-OMIM_614699-HP_0000007-GENCC_100002"	"HGNC:2336"	"CR2"	"MONDO:0013862"	"immunodeficiency, common variable, 7"	"OMIM:614699"	"?Immunodeficiency, common variable, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2336"	"CR2"	"OMIM:614699"	"immunodeficiency, common variable, 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"22035880, 26325596, 28499783"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CR20CVID"	"2023-11-30"
"GENCC_000106-HGNC_18688-OMIM_616220-HP_0000007-GENCC_100002"	"HGNC:18688"	"CRB2"	"MONDO:0014539"	"focal segmental glomerulosclerosis 9"	"OMIM:616220"	"Focal segmental glomerulosclerosis 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18688"	"CRB2"	"OMIM:616220"	"inherited focal segmental glomerulosclerosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 16:46:15"	""	""	"1.58654E+15, 22072575, 25557779, 2555779, 27004616, 27942854, 30212996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRB20FocalSeg"	"2023-11-30"
"GENCC_000106-HGNC_30185-OMIM_607417-HP_0000007-GENCC_100004"	"HGNC:30185"	"CRBN"	"MONDO:0011828"	"intellectual disability, autosomal recessive 2"	"OMIM:607417"	"Intellectual developmental disorder, autosomal recessive 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30185"	"CRBN"	"OMIM:607417"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-14 12:25:53"	""	""	"15557513, 23983124, 24993823, 28097321, 29459374"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRBN0ID"	"2023-11-30"
"GENCC_000106-HGNC_18856-OMIM_616229-HP_0000007-GENCC_100002"	"HGNC:18856"	"CREB3L1"	"MONDO:0014544"	"osteogenesis imperfecta type 16"	"OMIM:616229"	"Osteogenesis imperfecta, type XVI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18856"	"CREB3L1"	"OMIM:616229"	"osteogenesis imperfecta"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-01 08:31:32"	""	""	"19767743, 24079343, 24716865, 26558437, 28817112, 29936144, 30657919, 31207160"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CREB3L10CREB3L1rel"	"2023-11-30"
"GENCC_000106-HGNC_14630-OMIM_606217-HP_0000006-GENCC_100004"	"HGNC:14630"	"CRELD1"	"MONDO:0011650"	"atrioventricular septal defect, susceptibility to, 2"	"OMIM:606217"	"{Atrioventricular septal defect, susceptibility to, 2}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14630"	"CRELD1"	"OMIM:606217"	"familial atrioventricular septal defect"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 12:13:33"	""	""	"12632326, 15857420, 21080147, 23040494, 24697899, 24927998, 282738, 29054759, 29952356, 30221396, 31589614, 31759545, 31994743"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRELD10SyndStructHeart"	"2023-11-30"
"GENCC_000106-HGNC_2364-OMIM_272430-HP_0000007-GENCC_100002"	"HGNC:2364"	"CRLF1"	"MONDO:0010091"	"Cold-induced sweating syndrome 1"	"OMIM:272430"	"Cold-induced sweating syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2364"	"CRLF1"	"OMIM:272430"	"cold-induced sweating syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-19 13:05:52"	""	""	"10359701, 17436252, 19012339, 21326283, 24488861"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRLF10Cold-Ind"	"2023-11-30"
"GENCC_000106-HGNC_2383-OMIM_613829-HP_0000007-GENCC_100002"	"HGNC:2383"	"CRX"	"MONDO:0013449"	"Leber congenital amaurosis 7"	"OMIM:613829"	"Leber congenital amaurosis 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2383"	"CRX"	"OMIM:613829"	"Leber congenital amaurosis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-30 19:42:40"	""	""	"10581037, 24265693, 27013732, 29568065, 30557390, 9931337"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRX0Leber02"	"2023-11-30"
"GENCC_000106-HGNC_2388-OMIM_604219-HP_0000006-GENCC_100002"	"HGNC:2388"	"CRYAA"	"MONDO:0011413"	"cataract 9 multiple types"	"OMIM:604219"	"Cataract 9, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2388"	"CRYAA"	"OMIM:604219"	"cataract - microcornea syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:13"	""	""	"16639013, 16735993, 17296897, 19619312, 9023351, 9467006"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYAA0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2394-OMIM_600881-HP_0000006-GENCC_100002"	"HGNC:2394"	"CRYBA1"	"MONDO:0010948"	"cataract 10 multiple types"	"OMIM:600881"	"Cataract 10, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2394"	"CRYBA1"	"OMIM:600881"	"cataract 10 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-27 20:51:16"	""	""	"10585769, 14598164, 14693780, 15016766, 17653060, 21866213, 24468901, 25148791, 26851658, 28149769, 6178163, 7573044"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYBA10CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2395-OMIM_115900-HP_0000006-GENCC_100004"	"HGNC:2395"	"CRYBA2"	"MONDO:0007283"	"cataract 42"	"OMIM:115900"	"?Cataract 42"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2395"	"CRYBA2"	"OMIM:115900"	"cataract 42"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-26 14:07:33"	""	""	"21212184, 23508780, 27307692, 28234671, 28450710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYBA20Cataract"	"2023-11-30"
"GENCC_000106-HGNC_2396-OMIM_610425-HP_0000006-GENCC_100002"	"HGNC:2396"	"CRYBA4"	"MONDO:0012489"	"cataract 23"	"OMIM:610425"	"Cataract 23"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2396"	"CRYBA4"	"OMIM:610425"	"early-onset non-syndromic cataract"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-13 22:24:14"	""	""	"16960806, 1696806, 18587492, 20577656, 24319337, 24968223"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYBA40CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2397-OMIM_611544-HP_0000006-GENCC_100002"	"HGNC:2397"	"CRYBB1"	"MONDO:0012688"	"cataract 17 multiple types"	"OMIM:611544"	"Cataract 17, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2397"	"CRYBB1"	"OMIM:611544"	"early-onset non-syndromic cataract"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-13 15:19:27"	""	""	"12360425, 16110300, 17460281, 18432316, 18587492, 19461930, 21402992, 21866213, 22267527, 22935719, 23159606, 23508780, 24319337, 25086334, 26694549, 27208166, 27318838, 28928627, 29386872"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYBB10CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2397-OMIM_611544-HP_0000007-GENCC_100002"	"HGNC:2397"	"CRYBB1"	"MONDO:0012688"	"cataract 17 multiple types"	"OMIM:611544"	"Cataract 17, multiple types"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2397"	"CRYBB1"	"OMIM:611544"	"early-onset non-syndromic cataract"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-13 15:19:27"	""	""	"17460281, 19461930, 22267527"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYBB10CataractCong02"	"2023-11-30"
"GENCC_000106-HGNC_2400-OMIM_609741-HP_0000007-GENCC_100002"	"HGNC:2400"	"CRYBB3"	"MONDO:0012336"	"cataract 22 multiple types"	"OMIM:609741"	"Cataract 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2400"	"CRYBB3"	"OMIM:609741"	"early-onset non-syndromic cataract"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 09:45:31"	""	""	"15914629, 23508780, 26694549, 27326458, 27336458"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYBB30CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2400-OMIM_609741-HP_0000006-GENCC_100002"	"HGNC:2400"	"CRYBB3"	"MONDO:0012336"	"cataract 22 multiple types"	"OMIM:609741"	"Cataract 22"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2400"	"CRYBB3"	"OMIM:609741"	"early-onset non-syndromic cataract"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 09:45:31"	""	""	"15914629, 19182255, 22935719, 23508780, 24319337, 24968223, 26694549, 27307692, 33594837"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYBB30CataractCong02"	"2023-11-30"
"GENCC_000106-HGNC_2409-OMIM_615188-HP_0000006-GENCC_100004"	"HGNC:2409"	"CRYGB"	"MONDO:0014075"	"cataract 39 multiple types"	"OMIM:615188"	"Cataract 39, multiple types, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2409"	"CRYGB"	"OMIM:615188"	"early-onset non-syndromic cataract"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 08:40:19"	""	""	"21941057, 23288985"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYGB0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_2433-OMIM_221820-HP_0000006-GENCC_100002"	"HGNC:2433"	"CSF1R"	"MONDO:0800027"	"leukoencephalopathy, diffuse hereditary, with spheroids 1"	"OMIM:221820"	"Leukoencephalopathy, diffuse hereditary, with spheroids 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2433"	"CSF1R"	"OMIM:221820"	"hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 17:10:34"	""	""	"22197934, 23408870, 23649896, 24120500, 24145216, 24198292, 24336230, 25311247, 27680516, 30136118, 31191609"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSF1R0HDLS"	"2023-11-30"
"GENCC_000106-HGNC_2439-OMIM_617014-HP_0000007-GENCC_100002"	"HGNC:2439"	"CSF3R"	"MONDO:0014865"	"autosomal recessive severe congenital neutropenia due to CSF3R deficiency"	"OMIM:617014"	"Neutropenia, severe congenital, 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2439"	"CSF3R"	"OMIM:617014"	"autosomal recessive severe congenital neutropenia due to CSF3R deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 19:02:09"	""	""	"19775295, 24753537, 26324699"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSF3R0Neutropenia"	"2023-11-30"
"GENCC_000106-HGNC_2439-OMIM_162830-HP_0000006-GENCC_100002"	"HGNC:2439"	"CSF3R"	"MONDO:0008092"	"hereditary neutrophilia"	"OMIM:162830"	"?Neutrophilia, hereditary"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2439"	"CSF3R"	"OMIM:162830"	"hereditary neutrophilia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:04"	""	""	"19620628, 26475333"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSF3R0Neutrophilia"	"2023-11-30"
"GENCC_000106-HGNC_24290-OMIM_618870-HP_0000007-GENCC_100002"	"HGNC:24290"	"CSGALNACT1"	"MONDO:0030029"	"skeletal dysplasia, mild, with joint laxity and advanced bone age"	"OMIM:618870"	"Skeletal dysplasia, mild, with joint laxity and advanced bone age"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24290"	"CSGALNACT1"	"OMIM:618870"	"skeletal dysplasia, mild, with joint laxity and advanced bone age"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-14 11:26:00"	""	""	"21148564, 21160489, 27599773, 31325655, 31325665"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSGALNACT10CSGALNACT1rel"	"2023-11-30"
"GENCC_000106-HGNC_2460-OMIM_618732-HP_0000006-GENCC_100002"	"HGNC:2460"	"CSNK2B"	"MONDO:0032889"	"Poirier-Bienvenu neurodevelopmental syndrome"	"OMIM:618732"	"Poirier-Bienvenu neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2460"	"CSNK2B"	"OMIM:618732"	"Poirier-Bienvenu neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-07 17:51:51"	""	""	"28585349, 28762608, 31784560, 33166063"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSNK2B0Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_26193-OMIM_615636-HP_0000007-GENCC_100002"	"HGNC:26193"	"CSPP1"	"MONDO:0014288"	"Joubert syndrome 21"	"OMIM:615636"	"Joubert syndrome 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26193"	"CSPP1"	"OMIM:615636"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"24360807, 24360808, 68004116"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSPP10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_2475-OMIM_105150-HP_0000006-GENCC_100002"	"HGNC:2475"	"CST3"	"MONDO:0007098"	"ACys amyloidosis"	"OMIM:105150"	"Cerebral amyloid angiopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2475"	"CST3"	"OMIM:105150"	"cerebral amyloid angiopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:13"	""	""	"1352269, 16612982, 18566660, 22866027, 24500719, 2900981"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CST30CerebAmyAng"	"2023-11-30"
"GENCC_000106-HGNC_26169-OMIM_612199-HP_0000007-GENCC_100002"	"HGNC:26169"	"CTC1"	"MONDO:0024564"	"cerebroretinal microangiopathy with calcifications and cysts 1"	"OMIM:612199"	"Cerebroretinal microangiopathy with calcifications and cysts"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26169"	"CTC1"	"OMIM:612199"	"cerebroretinal microangiopathy with calcifications and cysts 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 15:13:49"	""	""	"22267198, 22387016, 22899577"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTC10CRMCC"	"2023-11-30"
"GENCC_000106-HGNC_13723-OMIM_615502-HP_0000006-GENCC_100002"	"HGNC:13723"	"CTCF"	"MONDO:0014213"	"intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome"	"OMIM:615502"	"Intellectual developmental disorder, autosomal dominant 21"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13723"	"CTCF"	"OMIM:615502"	"intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-23 15:02:09"	""	""	"23746550, 28619046, 30893510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTCF0ID"	"2023-11-30"
"GENCC_000106-HGNC_2505-OMIM_616100-HP_0000006-GENCC_100002"	"HGNC:2505"	"CTLA4"	"MONDO:0014493"	"autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency"	"OMIM:616100"	"Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2505"	"CTLA4"	"OMIM:616100"	"autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-24 03:49:36"	""	""	"25213377, 25329329, 27418640, 7481803, 7584144"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTLA40CTLA4haploinsuf"	"2023-11-30"
"GENCC_000106-HGNC_2511-OMIM_615616-HP_0000006-GENCC_100004"	"HGNC:2511"	"CTNNA3"	"MONDO:0000908"	"arrhythmogenic right ventricular dysplasia 13"	"OMIM:615616"	"Arrhythmogenic right ventricular dysplasia 13"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2511"	"CTNNA3"	"OMIM:615616"	"familial isolated arrhythmogenic right ventricular dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 12:45:15"	""	""	"21254927, 23136403, 28202948, 28416588, 30847666, 32880476"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTNNA30ArrhythCardiomy"	"2023-11-30"
"GENCC_000106-HGNC_2515-OMIM_617681-HP_0000006-GENCC_100002"	"HGNC:2515"	"CTNND1"	"MONDO:0040503"	"blepharocheilodontic syndrome 2"	"OMIM:617681"	"Blepharocheilodontic syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2515"	"CTNND1"	"OMIM:617681"	"blepharocheilodontic syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 13:48:02"	""	""	"28301459, 29348693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTNND10BCDS"	"2023-11-30"
"GENCC_000106-HGNC_2527-OMIM_148370-HP_0000006-GENCC_100002"	"HGNC:2527"	"CTSB"	"MONDO:0007854"	"keratolytic winter erythema"	"OMIM:148370"	"Keratolytic winter erythema"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2527"	"CTSB"	"OMIM:148370"	"keratolytic winter erythema"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-12-03 11:17:17"	""	""	"28457472"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSB0Erythema"	"2023-11-30"
"GENCC_000106-HGNC_2531-OMIM_615362-HP_0000007-GENCC_100002"	"HGNC:2531"	"CTSF"	"MONDO:0014147"	"neuronal ceroid lipofuscinosis 13"	"OMIM:615362"	"Ceroid lipofuscinosis, neuronal, 13 (Kufs type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2531"	"CTSF"	"OMIM:615362"	"adult neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 15:00:42"	""	""	"23297359, 25274848, 27668283"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLN0CTSF"	"2023-11-30"
"GENCC_000106-HGNC_21024-OMIM_273750-HP_0000007-GENCC_100002"	"HGNC:21024"	"CUL7"	"MONDO:0010117"	"3M syndrome 1"	"OMIM:273750"	"3-M syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21024"	"CUL7"	"OMIM:273750"	"3-M syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 03:23:24"	""	""	"16142236, 17675530, 19225462, 21396581"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CUL703MSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_2570-OMIM_250790-HP_0000007-GENCC_100002"	"HGNC:2570"	"CYB5A"	"MONDO:0009605"	"methemoglobinemia type 4"	"OMIM:250790"	"Methemoglobinemia and ambiguous genitalia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2570"	"CYB5A"	"OMIM:250790"	"hereditary methemoglobinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"20080843, 22170710, 25145387, 8168836"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYB5A0Methemoglobinem"	"2023-11-30"
"GENCC_000106-HGNC_13760-OMIM_618008-HP_0000006-GENCC_100002"	"HGNC:13760"	"CYFIP2"	"MONDO:0033374"	"developmental and epileptic encephalopathy, 65"	"OMIM:618008"	"Developmental and epileptic encephalopathy 65"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13760"	"CYFIP2"	"OMIM:618008"	"developmental and epileptic encephalopathy, 65"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-19 09:33:02"	""	""	"29534297, 29667327, 30664714"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYFIP20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_2591-OMIM_202010-HP_0000007-GENCC_100002"	"HGNC:2591"	"CYP11B1"	"MONDO:0008729"	"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"OMIM:202010"	"Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2591"	"CYP11B1"	"OMIM:202010"	"congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-12 20:07:48"	""	""	"14656479, 26476331, 8506298"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP11B10AdrenalHyp"	"2023-11-30"
"GENCC_000106-HGNC_2591-OMIM_103900-HP_0000006-GENCC_100002"	"HGNC:2591"	"CYP11B1"	"MONDO:0007080"	"glucocorticoid-remediable aldosteronism"	"OMIM:103900"	"Aldosteronism, glucocorticoid-remediable"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2591"	"CYP11B1"	"OMIM:103900"	"glucocorticoid-remediable aldosteronism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:14"	""	""	"1731223, 20634641, 26066897"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP11B10Aldosteronism"	"2023-11-30"
"GENCC_000106-HGNC_2593-OMIM_202110-HP_0000007-GENCC_100002"	"HGNC:2593"	"CYP17A1"	"MONDO:0008730"	"congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"	"OMIM:202110"	"17-alpha-hydroxylase/17,20-lyase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2593"	"CYP17A1"	"OMIM:202110"	"46,XY disorder of sex development due to isolated 17,20-lyase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-27 15:05:23"	""	""	"15811924, 17192295, 18422032, 20197673, 21966534, 24140098"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP17A10CAHyper"	"2023-11-30"
"GENCC_000106-HGNC_2602-OMIM_143880-HP_0000007-GENCC_100002"	"HGNC:2602"	"CYP24A1"	"MONDO:0020739"	"hypercalcemia, infantile, 1"	"OMIM:143880"	"Hypercalcemia, infantile, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2602"	"CYP24A1"	"OMIM:143880"	"hypercalcemia, infantile, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-04 14:43:08"	""	""	"21675912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP24A10InfHypercal"	"2023-11-30"
"GENCC_000106-HGNC_20577-OMIM_614974-HP_0000007-GENCC_100002"	"HGNC:20577"	"CYP26C1"	"MONDO:0013997"	"focal facial dermal dysplasia type IV"	"OMIM:614974"	"Focal facial dermal dysplasia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20577"	"CYP26C1"	"OMIM:614974"	"focal facial dermal dysplasia type IV"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"17067568, 23161670, 28170084, 29263414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP26C10FocalFac02"	"2023-11-30"
"GENCC_000106-HGNC_20580-OMIM_600081-HP_0000007-GENCC_100002"	"HGNC:20580"	"CYP2R1"	"MONDO:0010810"	"vitamin D hydroxylation-deficient rickets, type 1B"	"OMIM:600081"	"Rickets due to defect in vitamin D 25-hydroxylation deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20580"	"CYP2R1"	"OMIM:600081"	"rickets"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-11 07:05:02"	""	""	"15128933, 22855339, 24019477, 245738, 250936, 25942481, 276994, 282630, 28548312, 30777056, 33715104"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP2R10Rickets"	"2023-11-30"
"GENCC_000106-HGNC_23198-OMIM_210370-HP_0000007-GENCC_100002"	"HGNC:23198"	"CYP4V2"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"OMIM:210370"	"Bietti crystalline corneoretinal dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23198"	"CYP4V2"	"OMIM:210370"	"Bietti crystalline corneoretinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-15 16:15:41"	""	""	"15042513, 15937078, 16179904, 17962476, 21565171, 23221965, 25118264, 25593508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP4V20BiettiCrystalRD"	"2023-11-30"
"GENCC_000106-HGNC_28358-OMIM_600721-HP_0000007-GENCC_100002"	"HGNC:28358"	"D2HGDH"	"MONDO:0024554"	"D-2-hydroxyglutaric aciduria 1"	"OMIM:600721"	"D-2-hydroxyglutaric aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28358"	"D2HGDH"	"OMIM:600721"	"D-2-hydroxyglutaric aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 14:31:43"	""	""	"15070399, 16081310, 20020533, 21384162, 22391998"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"D2HGDH0D2Hydroxy"	"2023-11-30"
"GENCC_000106-HGNC_18143-OMIM_619263-HP_0000007-GENCC_100002"	"HGNC:18143"	"DAAM2"	"MONDO:0031008"	"nephrotic syndrome, type 24"	"OMIM:619263"	"Nephrotic syndrome, type 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18143"	"DAAM2"	"OMIM:619263"	"nephrotic syndrome, type 24"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-26 13:52:49"	""	""	"33232676"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DAAM20SRNS"	"2023-11-30"
"GENCC_000106-HGNC_17748-OMIM_617466-HP_0000006-GENCC_100004"	"HGNC:17748"	"DACT1"	"MONDO:0054582"	"Townes-Brocks syndrome 2"	"OMIM:617466"	"Townes-Brocks syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17748"	"DACT1"	"OMIM:617466"	"Townes-Brocks syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:27"	""	""	"19701191, 22610794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DACT10NeuralTube"	"2023-11-30"
"GENCC_000106-HGNC_2689-OMIM_223360-HP_0000007-GENCC_100002"	"HGNC:2689"	"DBH"	"MONDO:0009123"	"orthostatic hypotension 1"	"OMIM:223360"	"Orthostatic hypotension 1, due to DBH deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2689"	"DBH"	"OMIM:223360"	"orthostatic hypotension 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"11857564, 15060114, 21209083, 26410747, 27778639, 7715704"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DBH0DopamineBetaDef"	"2023-11-30"
"GENCC_000106-HGNC_15594-OMIM_619441-HP_0000007-GENCC_100002"	"HGNC:15594"	"DBR1"	"MONDO:0030334"	"encephalitis, acute, infection (viral)-induced, susceptibility to, 11"	"OMIM:619441"	"{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15594"	"DBR1"	"OMIM:619441"	"encephalitis, acute, infection (viral)-induced, susceptibility to, 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-04 16:32:12"	""	""	"25123664, 29474921, 33386334, 37656279"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DBR10DBR1rel"	"2023-11-30"
"GENCC_000106-HGNC_13681-OMIM_607829-HP_0000006-GENCC_100002"	"HGNC:13681"	"DCHS1"	"MONDO:0011915"	"mitral valve prolapse, myxomatous 2"	"OMIM:607829"	"Mitral valve prolapse 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13681"	"DCHS1"	"OMIM:607829"	"familial mitral valve prolapse"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-28 19:46:03"	""	""	"24056717, 26258302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCHS10MitralVa"	"2023-11-30"
"GENCC_000106-HGNC_13681-OMIM_601390-HP_0000007-GENCC_100002"	"HGNC:13681"	"DCHS1"	"MONDO:0011070"	"van Maldergem syndrome 1"	"OMIM:601390"	"Van Maldergem syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13681"	"DCHS1"	"OMIM:601390"	"van Maldergem syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"24056717, 26258302, 29046692"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCHS10VanMalde"	"2023-11-30"
"GENCC_000106-HGNC_2709-OMIM_619165-HP_0000007-GENCC_100002"	"HGNC:2709"	"DCT"	"MONDO:0030899"	"oculocutaneous albinism type 8"	"OMIM:619165"	"Oculocutaneous albinism, type VIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2709"	"DCT"	"OMIM:619165"	"oculocutaneous albinism type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-10 08:14:52"	""	""	"33100333, 33959807"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCT0OculocutAlb"	"2023-11-30"
"GENCC_000106-HGNC_2711-OMIM_168605-HP_0000006-GENCC_100002"	"HGNC:2711"	"DCTN1"	"MONDO:0008201"	"Perry syndrome"	"OMIM:168605"	"Perry syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2711"	"DCTN1"	"OMIM:168605"	"Perry syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-05 16:47:34"	""	""	"24881494"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"Perry"	"2023-11-30"
"GENCC_000106-HGNC_2728-OMIM_614507-HP_0000007-GENCC_100004"	"HGNC:2728"	"DDOST"	"MONDO:0013789"	"DDOST-congenital disorder of glycosylation"	"OMIM:614507"	"Congenital disorder of glycosylation, type Ir"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2728"	"DDOST"	"OMIM:614507"	"DDOST-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-12 13:19:07"	""	""	"22305527, 34462534, 34598035"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDOST0DDOSTCDG"	"2023-11-30"
"GENCC_000106-HGNC_2731-OMIM_271665-HP_0000007-GENCC_100002"	"HGNC:2731"	"DDR2"	"MONDO:0010077"	"spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	"OMIM:271665"	"Spondylometaepiphyseal dysplasia, short limb-hand type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2731"	"DDR2"	"OMIM:271665"	"spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"11375938, 19110212, 20223752, 24725993, 251184, 29884795"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDR20SEMDys"	"2023-11-30"
"GENCC_000106-HGNC_2736-OMIM_613398-HP_0000007-GENCC_100002"	"HGNC:2736"	"DDX11"	"MONDO:0013252"	"Warsaw breakage syndrome"	"OMIM:613398"	"Warsaw breakage syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2736"	"DDX11"	"OMIM:613398"	"Warsaw breakage syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-07 14:57:48"	""	""	"17611414, 20137776, 25701697, 26089203, 32855419"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDX110WarsawBr"	"2023-11-30"
"GENCC_000106-HGNC_18674-OMIM_616871-HP_0000006-GENCC_100002"	"HGNC:18674"	"DDX41"	"MONDO:0014809"	"DDX41-related hematologic malignancy predisposition syndrome"	"OMIM:616871"	"{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18674"	"DDX41"	"OMIM:616871"	"DDX41-related hematologic malignancy predisposition syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-28 14:21:25"	""	""	"25920683, 26712909, 26944477, 27133828, 30144193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDX410FamLeukemia"	"2023-11-30"
"GENCC_000106-HGNC_19102-OMIM_616298-HP_0000006-GENCC_100002"	"HGNC:19102"	"RIGI"	"MONDO:0014575"	"Singleton-Merten syndrome 2"	"OMIM:616298"	"Singleton-Merten syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19102"	"RIGI"	"OMIM:616298"	"Singleton-Merten dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:05"	""	""	"25620203, 30574673"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDX580SingletonMerten"	"2023-11-30"
"GENCC_000106-HGNC_14677-OMIM_615828-HP_0000006-GENCC_100002"	"HGNC:14677"	"DEAF1"	"MONDO:0014357"	"intellectual disability, autosomal dominant 24"	"OMIM:615828"	"Vulto-van Silfout-de Vries syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14677"	"DEAF1"	"OMIM:615828"	"intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 07:54:10"	""	""	"1287821998, 21076407, 24726472, 28940898, 30109124, 30923367"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DEAF10Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_14677-OMIM_617171-HP_0000007-GENCC_100002"	"HGNC:14677"	"DEAF1"	"MONDO:0014952"	"intellectual disability-epilepsy-extrapyramidal syndrome"	"OMIM:617171"	"Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14677"	"DEAF1"	"OMIM:617171"	"intellectual disability-epilepsy-extrapyramidal syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-28 10:06:11"	""	""	"24668509, 26048982, 26795593, 28940898, 30923367, 31688097, 31929336, 33258288"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DEAF10Epilepsy02"	"2023-11-30"
"GENCC_000106-HGNC_2760-OMIM_619573-HP_0000007-GENCC_100002"	"HGNC:2760"	"DEF6"	"MONDO:0030457"	"immunodeficiency 87 and autoimmunity"	"OMIM:619573"	"Immunodeficiency 87 and autoimmunity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2760"	"DEF6"	"OMIM:619573"	"immunodeficiency 87 and autoimmunity"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-20 11:00:06"	""	""	"16470246, 31308374, 32562707"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DEF60DEF6def"	"2023-11-30"
"GENCC_000106-HGNC_13709-OMIM_618404-HP_0000007-GENCC_100002"	"HGNC:13709"	"DEGS1"	"MONDO:0032730"	"leukodystrophy, hypomyelinating, 18"	"OMIM:618404"	"Leukodystrophy, hypomyelinating, 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13709"	"DEGS1"	"OMIM:618404"	"leukodystrophy, hypomyelinating, 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 15:53:21"	""	""	"30620337, 30620338, 31186544"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DEGS10HLD"	"2023-11-30"
"GENCC_000106-HGNC_18423-OMIM_604364-HP_0000006-GENCC_100002"	"HGNC:18423"	"DEPDC5"	"MONDO:0024556"	"epilepsy, familial focal, with variable foci 1"	"OMIM:604364"	"Epilepsy, familial focal, with variable foci 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18423"	"DEPDC5"	"OMIM:604364"	"familial focal epilepsy with variable foci"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 19:06:27"	""	""	"23542697, 23542701, 25366275"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DEPDC50ADNFLE"	"2023-11-30"
"GENCC_000106-HGNC_29502-OMIM_610220-HP_0000007-GENCC_100002"	"HGNC:29502"	"PJVK"	"MONDO:0012445"	"autosomal recessive nonsyndromic hearing loss 59"	"OMIM:610220"	"Deafness, autosomal recessive 59"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29502"	"PJVK"	"OMIM:610220"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"16804542, 17301963, 17329413, 17373699, 17718875, 280836"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DFNB590Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2843-OMIM_615863-HP_0000007-GENCC_100002"	"HGNC:2843"	"DGAT1"	"MONDO:0014375"	"congenital diarrhea 7 with exudative enteropathy"	"OMIM:615863"	"Diarrhea 7, protein-losing enteropathy type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2843"	"DGAT1"	"OMIM:615863"	"congenital diarrhea 7 with exudative enteropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-03 22:03:11"	""	""	"10802663, 23114594, 26883093, 28373485, 28937539, 29604290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DGAT10PLE"	"2023-11-30"
"GENCC_000106-HGNC_2852-OMIM_615008-HP_0000007-GENCC_100002"	"HGNC:2852"	"DGKE"	"MONDO:0014005"	"immunoglobulin-mediated membranoproliferative glomerulonephritis"	"OMIM:615008"	"Nephrotic syndrome, type 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2852"	"DGKE"	"OMIM:615008"	"nephrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 16:20:44"	""	""	"23274426"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DGKE0DGKEnephsyn"	"2023-11-30"
"GENCC_000106-HGNC_20603-OMIM_617836-HP_0000006-GENCC_100002"	"HGNC:20603"	"DHDDS"	"MONDO:0044326"	"developmental delay and seizures with or without movement abnormalities"	"OMIM:617836"	"Developmental delay and seizures with or without movement abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20603"	"DHDDS"	"OMIM:617836"	"developmental delay and seizures with or without movement abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:18:44"	""	""	"23934111, 29100083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHDDS0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_2861-OMIM_613839-HP_0000007-GENCC_100002"	"HGNC:2861"	"DHFR"	"MONDO:0013456"	"constitutional megaloblastic anemia with severe neurologic disease"	"OMIM:613839"	"Megaloblastic anemia due to dihydrofolate reductase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2861"	"DHFR"	"OMIM:613839"	"megaloblastic anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"118980, 21310276, 21310277, 242054, 245910, 26822949"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHFR0Megalobl"	"2023-11-30"
"GENCC_000106-HGNC_2869-OMIM_618480-HP_0000007-GENCC_100002"	"HGNC:2869"	"DHPS"	"MONDO:0032775"	"neurodevelopmental disorder with seizures and speech and walking impairment"	"OMIM:618480"	"Neurodevelopmental disorder with seizures and speech and walking impairment"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2869"	"DHPS"	"OMIM:618480"	"neurodevelopmental disorder with seizures and speech and walking impairment"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:13"	""	""	"30661771"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHPS0DHPSrel"	"2023-11-30"
"GENCC_000106-HGNC_23537-OMIM_204750-HP_0000007-GENCC_100002"	"HGNC:23537"	"DHTKD1"	"MONDO:0008774"	"2-aminoadipic 2-oxoadipic aciduria"	"OMIM:204750"	"Alpha-aminoadipic and alpha-ketoadipic aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23537"	"DHTKD1"	"OMIM:204750"	"2-aminoadipic 2-oxoadipic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"23141293, 25860818, 26141459, 28545977"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHTKD102Amino2Oxo"	"2023-11-30"
"GENCC_000106-HGNC_23537-OMIM_615025-HP_0000006-GENCC_100002"	"HGNC:23537"	"DHTKD1"	"MONDO:0014012"	"Charcot-Marie-Tooth disease axonal type 2Q"	"OMIM:615025"	"?Charcot-Marie-Tooth disease, axonal, type 2Q"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23537"	"DHTKD1"	"OMIM:615025"	"Charcot-Marie-Tooth disease axonal type 2Q"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:34:15"	""	""	"23141294, 28251916, 29653220, 29661920, 30896807"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHTKD10CMT"	"2023-11-30"
"GENCC_000106-HGNC_2739-OMIM_618733-HP_0000006-GENCC_100002"	"HGNC:2739"	"DHX16"	"MONDO:0032890"	"neuromuscular disease and ocular or auditory anomalies with or without seizures"	"OMIM:618733"	"Neuromuscular disease and ocular or auditory anomalies with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2739"	"DHX16"	"OMIM:618733"	"neuromuscular disease and ocular or auditory anomalies with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-06 18:04:46"	""	""	"31256877, 37664979"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHX160DHX16rel"	"2023-11-30"
"GENCC_000106-HGNC_17210-OMIM_618731-HP_0000007-GENCC_100002"	"HGNC:17210"	"DHX37"	"MONDO:0032888"	"neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies"	"OMIM:618731"	"Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17210"	"DHX37"	"OMIM:618731"	"neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-20 10:12:01"	""	""	"26539891, 31256877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHX370Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_21528-OMIM_614152-HP_0000006-GENCC_100004"	"HGNC:21528"	"DIABLO"	"MONDO:0013593"	"autosomal dominant nonsyndromic hearing loss 64"	"OMIM:614152"	"Deafness, autosomal dominant 64"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21528"	"DIABLO"	"OMIM:614152"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"11971981, 21722859, 250906, 26969326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DIABLO0Deafness064"	"2023-11-30"
"GENCC_000106-HGNC_2876-OMIM_124900-HP_0000006-GENCC_100002"	"HGNC:2876"	"DIAPH1"	"MONDO:0007424"	"autosomal dominant nonsyndromic hearing loss 1"	"OMIM:124900"	"Deafness, autosomal dominant 1, with or without thrombocytopenia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2876"	"DIAPH1"	"OMIM:124900"	"autosomal dominant nonsyndromic hearing loss 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-14 17:29:31"	""	""	"22938506, 25342930, 26912466, 27707755, 27808407, 27911912, 28815995, 9360932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DIAPH10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2876-OMIM_616632-HP_0000007-GENCC_100002"	"HGNC:2876"	"DIAPH1"	"MONDO:0014714"	"progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"	"OMIM:616632"	"Seizures, cortical blindness, microcephaly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2876"	"DIAPH1"	"OMIM:616632"	"progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-11 14:46:50"	""	""	"976563, 24781755, 26077850, 26463574, 33176815, 33662367, 36184095, 36212620"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DIAPH10epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_28648-OMIM_267000-HP_0000007-GENCC_100002"	"HGNC:28648"	"DIS3L2"	"MONDO:0009965"	"Perlman syndrome"	"OMIM:267000"	"Perlman syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28648"	"DIS3L2"	"OMIM:267000"	"Perlman syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-17 12:28:39"	""	""	"18780370, 22306653, 23613427, 28328139, 29950491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DIS3L20Perlman"	"2023-11-30"
"GENCC_000106-HGNC_2890-OMIM_305000-HP_0001417-GENCC_100002"	"HGNC:2890"	"DKC1"	"MONDO:0010584"	"dyskeratosis congenita, X-linked"	"OMIM:305000"	"Dyskeratosis congenita, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2890"	"DKC1"	"OMIM:305000"	"dyskeratosis congenita"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-24 19:08:14"	""	""	"11379875, 18627054, 35384376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DKC10DKC"	"2023-11-30"
"GENCC_000106-HGNC_2903-OMIM_618793-HP_0000006-GENCC_100002"	"HGNC:2903"	"DLG4"	"MONDO:0032919"	"intellectual developmental disorder 62"	"OMIM:618793"	"Intellectual developmental disorder, autosomal dominant 62"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2903"	"DLG4"	"OMIM:618793"	"intellectual developmental disorder 62"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-25 13:10:03"	""	""	"12151521, 24705785, 26350515, 27479843, 28135719, 28191890, 29460436"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLG40DLG4rel"	"2023-11-30"
"GENCC_000106-HGNC_2908-OMIM_618709-HP_0000006-GENCC_100002"	"HGNC:2908"	"DLL1"	"MONDO:0032877"	"neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"OMIM:618709"	"Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2908"	"DLL1"	"OMIM:618709"	"neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:18"	""	""	"22542183, 24768552, 31353024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLL10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_2909-OMIM_277300-HP_0000007-GENCC_100002"	"HGNC:2909"	"DLL3"	"MONDO:0020692"	"spondylocostal dysostosis 1, autosomal recessive"	"OMIM:277300"	"Spondylocostal dysostosis 1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2909"	"DLL3"	"OMIM:277300"	"spondylocostal dysostosis 1, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"10742114, 12746394, 12791036, 29459493, 9662403"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLL30Spondylocostal"	"2023-11-30"
"GENCC_000106-HGNC_2917-OMIM_616788-HP_0000006-GENCC_100004"	"HGNC:2917"	"DLX4"	"MONDO:0014772"	"orofacial cleft 15"	"OMIM:616788"	"?Orofacial cleft 15"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2917"	"DLX4"	"OMIM:616788"	"cleft lip/palate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-21 14:27:11"	""	""	"25954033, 29738288, 31337262"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLX40?Orofaci"	"2023-11-30"
"GENCC_000106-HGNC_24475-OMIM_605850-HP_0000007-GENCC_100004"	"HGNC:24475"	"DMGDH"	"MONDO:0011610"	"dimethylglycine dehydrogenase deficiency"	"OMIM:605850"	"Dimethylglycine dehydrogenase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24475"	"DMGDH"	"OMIM:605850"	"dimethylglycine dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"11231903, 18937046, 27486859, 28881522, 29356306, 31063268, 31980526, 33686259"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DMGDH0Dimethyl"	"2023-11-30"
"GENCC_000106-HGNC_2933-OMIM_160900-HP_0000006-GENCC_100002"	"HGNC:2933"	"DMPK"	"MONDO:0008056"	"myotonic dystrophy type 1"	"OMIM:160900"	"Myotonic dystrophy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2933"	"DMPK"	"OMIM:160900"	"myotonic dystrophy type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-26 08:02:04"	""	""	"12150905, 1310900, 16636244, 17411343, 21623381, 21900255, 23139243, 23404338, 27066551, 27353517, 8673132"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DMPK0MD"	"2023-11-30"
"GENCC_000106-HGNC_2939-OMIM_615156-HP_0000006-GENCC_100002"	"HGNC:2939"	"DNA2"	"MONDO:0014062"	"mitochondrial DNA deletion syndrome with progressive myopathy"	"OMIM:615156"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2939"	"DNA2"	"OMIM:615156"	"mitochondrial DNA deletion syndrome with progressive myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:14"	""	""	"19165339, 23352259, 23604072, 25635128, 28554558"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNA20PEO"	"2023-11-30"
"GENCC_000106-HGNC_2939-OMIM_615807-HP_0000007-GENCC_100002"	"HGNC:2939"	"DNA2"	"MONDO:0014350"	"Seckel syndrome 8"	"OMIM:615807"	"Seckel syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2939"	"DNA2"	"OMIM:615807"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-17 15:09:28"	""	""	"24389050, 31045292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNA20Seckel"	"2023-11-30"
"GENCC_000106-HGNC_2948-OMIM_619094-HP_0000007-GENCC_100004"	"HGNC:2948"	"DNAH2"	"MONDO:0033671"	"spermatogenic failure 45"	"OMIM:619094"	"Spermatogenic failure 45"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2948"	"DNAH2"	"OMIM:619094"	"spermatogenic failure 45"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:13"	""	""	"30811583"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAH20MMAF"	"2023-11-30"
"GENCC_000106-HGNC_2954-OMIM_244400-HP_0000007-GENCC_100002"	"HGNC:2954"	"DNAI1"	"MONDO:0009484"	"primary ciliary dyskinesia 1"	"OMIM:244400"	"Ciliary dyskinesia, primary, 1, with or without situs inversus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2954"	"DNAI1"	"OMIM:244400"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"16858015, 29363216"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAI10PCD02"	"2023-11-30"
"GENCC_000106-HGNC_14889-OMIM_618061-HP_0000006-GENCC_100002"	"HGNC:14889"	"DNAJB11"	"MONDO:0054842"	"polycystic kidney disease 6 with or without polycystic liver disease"	"OMIM:618061"	"Polycystic kidney disease 6 with or without polycystic liver disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14889"	"DNAJB11"	"OMIM:618061"	"polycystic kidney disease 6 with or without polycystic liver disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-07-31 12:21:55"	""	""	"250896, 251294, 29706351, 32775842"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJB110PKD"	"2023-11-30"
"GENCC_000106-HGNC_30718-OMIM_617091-HP_0000007-GENCC_100002"	"HGNC:30718"	"DNAJB13"	"MONDO:0014909"	"primary ciliary dyskinesia 34"	"OMIM:617091"	"Ciliary dyskinesia, primary, 34"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30718"	"DNAJB13"	"OMIM:617091"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-18 13:54:42"	""	""	"27486783, 29363216, 31650533"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJB130CiliaryD"	"2023-11-30"
"GENCC_000106-HGNC_5228-OMIM_614881-HP_0000007-GENCC_100002"	"HGNC:5228"	"DNAJB2"	"MONDO:0013947"	"neuronopathy, distal hereditary motor, autosomal recessive 5"	"OMIM:614881"	"Neuronopathy, distal hereditary motor, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5228"	"DNAJB2"	"OMIM:614881"	"young adult-onset distal hereditary motor neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:37:47"	""	""	"22522442, 24627108, 25274842"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJB20HMN"	"2023-11-30"
"GENCC_000106-HGNC_14888-OMIM_603511-HP_0000006-GENCC_100002"	"HGNC:14888"	"DNAJB6"	"MONDO:0021018"	"autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"	"OMIM:603511"	"Muscular dystrophy, limb-girdle, autosomal dominant 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14888"	"DNAJB6"	"OMIM:603511"	"autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:15"	""	""	"22366786, 27747217, 28233300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJB60LGMD"	"2023-11-30"
"GENCC_000106-HGNC_2972-OMIM_616346-HP_0000006-GENCC_100002"	"HGNC:2972"	"DNM1"	"MONDO:0014598"	"developmental and epileptic encephalopathy, 31A"	"OMIM:616346"	"Developmental and epileptic encephalopathy 31A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2972"	"DNM1"	"OMIM:616346"	"undetermined early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 15:18:36"	""	""	"17463283, 25262651, 26611353, 26648591, 27066543, 27781031"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNM10EpilepEnceph"	"2023-11-30"
"GENCC_000106-HGNC_2973-OMIM_614388-HP_0000007-GENCC_100002"	"HGNC:2973"	"DNM1L"	"MONDO:0013726"	"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"OMIM:614388"	"Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2973"	"DNM1L"	"OMIM:614388"	"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:41:29"	""	""	"26825290, 27328748"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNM1L0Encephalopathy02"	"2023-11-30"
"GENCC_000106-HGNC_2974-OMIM_615368-HP_0000007-GENCC_100004"	"HGNC:2974"	"DNM2"	"MONDO:0014149"	"fetal akinesia-cerebral and retinal hemorrhage syndrome"	"OMIM:615368"	"Lethal congenital contracture syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2974"	"DNM2"	"OMIM:615368"	"fetal akinesia-cerebral and retinal hemorrhage syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-30 09:18:30"	""	""	"23092955"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNM20LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_2978-OMIM_618724-HP_0000006-GENCC_100002"	"HGNC:2978"	"DNMT3A"	"MONDO:0032882"	"Heyn-Sproul-Jackson syndrome"	"OMIM:618724"	"Heyn-Sproul-Jackson syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2978"	"DNMT3A"	"OMIM:618724"	"Heyn-Sproul-Jackson syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-26 08:23:33"	""	""	"30478443"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNMT3A0HSJ"	"2023-11-30"
"GENCC_000106-HGNC_2978-OMIM_615879-HP_0000006-GENCC_100002"	"HGNC:2978"	"DNMT3A"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"OMIM:615879"	"Tatton-Brown-Rahman syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2978"	"DNMT3A"	"OMIM:615879"	"Tatton-Brown-Rahman overgrowth syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-02 14:08:17"	""	""	"10555141, 24614070"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNMT3A0TattonBrown"	"2023-11-30"
"GENCC_000106-HGNC_2979-OMIM_242860-HP_0000007-GENCC_100002"	"HGNC:2979"	"DNMT3B"	"MONDO:0009454"	"immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"OMIM:242860"	"Immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2979"	"DNMT3B"	"OMIM:242860"	"immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-28 03:21:24"	""	""	"10555141, 11102980, 26851945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNMT3B0ImmCentInstFac"	"2023-11-30"
"GENCC_000106-HGNC_19190-OMIM_615859-HP_0000007-GENCC_100002"	"HGNC:19190"	"DOCK7"	"MONDO:0014371"	"developmental and epileptic encephalopathy, 23"	"OMIM:615859"	"Developmental and epileptic encephalopathy 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19190"	"DOCK7"	"OMIM:615859"	"developmental and epileptic encephalopathy, 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 21:10:44"	""	""	"19202056, 24814191"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DOCK70EpilepEnceph"	"2023-11-30"
"GENCC_000106-HGNC_20637-OMIM_619435-HP_0000006-GENCC_100002"	"HGNC:20637"	"DPYSL5"	"MONDO:0030331"	"Ritscher-Schinzel syndrome 4"	"OMIM:619435"	"Ritscher-Schinzel syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20637"	"DPYSL5"	"OMIM:619435"	"Ritscher-Schinzel syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 09:22:31"	""	""	"28135719, 28191890, 28991257, 33894126"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPYSL50DPYSL5rel"	"2023-11-30"
"GENCC_000106-HGNC_3036-OMIM_610476-HP_0000006-GENCC_100002"	"HGNC:3036"	"DSC2"	"MONDO:0012506"	"arrhythmogenic right ventricular dysplasia 11"	"OMIM:610476"	"Arrhythmogenic right ventricular dysplasia 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3036"	"DSC2"	"OMIM:610476"	"familial isolated arrhythmogenic right ventricular dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-12 13:30:28"	""	""	"17033975, 20716751, 21859740, 22527912, 23500315, 23911551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSC20ARVDC"	"2023-11-30"
"GENCC_000106-HGNC_3036-OMIM_610476-HP_0000007-GENCC_100004"	"HGNC:3036"	"DSC2"	"MONDO:0012506"	"arrhythmogenic right ventricular dysplasia 11"	"OMIM:610476"	"Arrhythmogenic right ventricular dysplasia 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3036"	"DSC2"	"OMIM:610476"	"familial isolated arrhythmogenic right ventricular dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-12 13:30:28"	""	""	"18957847, 21606396, 23863954, 24793512, 25497880, 26310507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSC20ARVDC02"	"2023-11-30"
"GENCC_000106-HGNC_3049-OMIM_610193-HP_0000006-GENCC_100002"	"HGNC:3049"	"DSG2"	"MONDO:0012434"	"arrhythmogenic right ventricular dysplasia 10"	"OMIM:610193"	"Arrhythmogenic right ventricular dysplasia 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3049"	"DSG2"	"OMIM:610193"	"familial isolated arrhythmogenic ventricular dysplasia, left dominant form"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:20:27"	""	""	"17105751, 23381804, 31386562"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSG20ArrhythCardiomy"	"2023-11-30"
"GENCC_000106-HGNC_3049-OMIM_612877-HP_0000007-GENCC_100004"	"HGNC:3049"	"DSG2"	"MONDO:0013030"	"dilated cardiomyopathy 1BB"	"OMIM:612877"	"Cardiomyopathy, dilated, 1BB"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3049"	"DSG2"	"OMIM:612877"	"familial isolated dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:09"	""	""	"16773573, 20031617, 20864495, 21859740, 23381804, 23810894, 24070718, 25172079, 28818065, 30177324"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSG20recessive"	"2023-11-30"
"GENCC_000106-HGNC_29043-OMIM_610805-HP_0000006-GENCC_100004"	"HGNC:29043"	"DSTYK"	"MONDO:0012561"	"congenital anomalies of kidney and urinary tract 1"	"OMIM:610805"	"Congenital anomalies of kidney and urinary tract 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29043"	"DSTYK"	"OMIM:610805"	"congenital anomalies of kidney and urinary tract 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-10-13 09:21:21"	""	""	"23862974, 25400726, 28566479, 28618409, 32164334, 32723786, 33226606, 34059960, 34608560"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSTYK0UTM"	"2023-11-30"
"GENCC_000106-HGNC_3057-OMIM_604169-HP_0000006-GENCC_100004"	"HGNC:3057"	"DTNA"	"MONDO:0011403"	"left ventricular noncompaction 1"	"OMIM:604169"	"Left ventricular noncompaction 1, with or without congenital heart defects"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3057"	"DTNA"	"OMIM:604169"	"left ventricular noncompaction 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"1123827, 11238270, 16427346, 25305078, 27532257, 27650965, 28416588, 29118297, 29247119, 31130284, 32522011, 32600061, 32746448, 33895855"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DTNA0LVNC"	"2023-11-30"
"GENCC_000106-HGNC_17328-OMIM_614076-HP_0000007-GENCC_100002"	"HGNC:17328"	"DTNBP1"	"MONDO:0013559"	"Hermansky-Pudlak syndrome 7"	"OMIM:614076"	"Hermansky-Pudlak syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17328"	"DTNBP1"	"OMIM:614076"	"Hermansky-Pudlak syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"12923531, 23364359, 28259707, 29345414, 30990103"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DTNBP10Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_32698-OMIM_274900-HP_0000007-GENCC_100002"	"HGNC:32698"	"DUOXA2"	"MONDO:0010137"	"thyroid dyshormonogenesis 5"	"OMIM:274900"	"Thyroid dyshormonogenesis 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32698"	"DUOXA2"	"OMIM:274900"	"congenital hypothyroidism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"18042646, 21367925, 23292166, 25675383, 26709262, 26990548, 28626131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DUOXA20ThyroidDyshorm"	"2023-11-30"
"GENCC_000106-HGNC_3072-OMIM_615269-HP_0000006-GENCC_100004"	"HGNC:3072"	"DUSP6"	"MONDO:0014105"	"hypogonadotropic hypogonadism 19 with or without anosmia"	"OMIM:615269"	"Hypogonadotropic hypogonadism 19 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3072"	"DUSP6"	"OMIM:615269"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-14 14:24:46"	""	""	"18753132, 23643382, 32520725, 34539727"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DUSP60Hypogona010"	"2023-11-30"
"GENCC_000106-HGNC_21317-OMIM_223800-HP_0000007-GENCC_100002"	"HGNC:21317"	"DYM"	"MONDO:0009130"	"Dyggve-Melchior-Clausen disease"	"OMIM:223800"	"Dyggve-Melchior-Clausen disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21317"	"DYM"	"OMIM:223800"	"Dyggve-Melchior-Clausen disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-02 15:43:12"	""	""	"12491225, 12554689, 18996921"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYM0DMCS"	"2023-11-30"
"GENCC_000106-HGNC_21317-OMIM_607326-HP_0000007-GENCC_100002"	"HGNC:21317"	"DYM"	"MONDO:0011814"	"Smith-McCort dysplasia 1"	"OMIM:607326"	"Smith-McCort dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21317"	"DYM"	"OMIM:607326"	"Smith-McCort dysplasia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:49"	""	""	"12491225, 16097008, 16326827, 18996921, 19005420, 26633542, 27124789, 30919572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYM0SmithMcCortDys"	"2023-11-30"
"GENCC_000106-HGNC_3091-OMIM_614104-HP_0000006-GENCC_100002"	"HGNC:3091"	"DYRK1A"	"MONDO:0013578"	"DYRK1A-related intellectual disability syndrome"	"OMIM:614104"	"Intellectual developmental disorder, autosomal dominant 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3091"	"DYRK1A"	"OMIM:614104"	"DYRK1A-related intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 15:49:11"	""	""	"12192061, 15301607, 18405873, 21294719, 23099646, 25533962, 25707398, 25944381"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYRK1A0ID"	"2023-11-30"
"GENCC_000106-HGNC_20908-OMIM_619102-HP_0000007-GENCC_100004"	"HGNC:20908"	"DZIP1"	"MONDO:0030844"	"spermatogenic failure 47"	"OMIM:619102"	"Spermatogenic failure 47"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20908"	"DZIP1"	"OMIM:619102"	"spermatogenic failure 47"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-19 14:49:00"	""	""	"32051257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DZIP10MMAF"	"2023-11-30"
"GENCC_000106-HGNC_26551-OMIM_617610-HP_0000007-GENCC_100002"	"HGNC:26551"	"DZIP1L"	"MONDO:0033281"	"polycystic kidney disease 5"	"OMIM:617610"	"Polycystic kidney disease 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26551"	"DZIP1L"	"OMIM:617610"	"polycystic kidney disease 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-26 13:41:10"	""	""	"249264, 28530676"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DZIP1L0PKD"	"2023-11-30"
"GENCC_000106-HGNC_3133-OMIM_302960-HP_0001417-GENCC_100002"	"HGNC:3133"	"EBP"	"MONDO:0020603"	"X-linked chondrodysplasia punctata 2"	"OMIM:302960"	"Chondrodysplasia punctata, X-linked dominant"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3133"	"EBP"	"OMIM:302960"	"X-linked chondrodysplasia punctata 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:39:52"	""	""	"10391218, 10942423, 25754886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EBP0ChondrodysPunct"	"2023-11-30"
"GENCC_000106-HGNC_3133-OMIM_300960-HP_0001417-GENCC_100002"	"HGNC:3133"	"EBP"	"MONDO:0010498"	"MEND syndrome"	"OMIM:300960"	"MEND syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3133"	"EBP"	"OMIM:300960"	"MEND syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:13"	""	""	"12503101, 20949533, 22229330, 23307567, 24459067, 24700572, 31397093"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EBP0MEND"	"2023-11-30"
"GENCC_000106-HGNC_2895-OMIM_224900-HP_0000007-GENCC_100002"	"HGNC:2895"	"EDAR"	"MONDO:0009147"	"ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"	"OMIM:224900"	"Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2895"	"EDAR"	"OMIM:224900"	"hypohidrotic ectodermal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-04 13:57:24"	""	""	"10431241, 10431242, 18231121, 20979233"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDAR0EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_14341-OMIM_614940-HP_0000006-GENCC_100002"	"HGNC:14341"	"EDARADD"	"MONDO:0013982"	"ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"OMIM:614940"	"Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14341"	"EDARADD"	"OMIM:614940"	"ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-07 08:51:37"	""	""	"11780064, 17354266, 20477971, 20979233, 21626677, 24666190, 26440664"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDARADD0EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_14341-OMIM_614941-HP_0000007-GENCC_100002"	"HGNC:14341"	"EDARADD"	"MONDO:0013983"	"ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"	"OMIM:614941"	"Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14341"	"EDARADD"	"OMIM:614941"	"ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-06 09:03:21"	""	""	"11780064, 17354266, 22013926, 26991760"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDARADD0EctodermDys02"	"2023-11-30"
"GENCC_000106-HGNC_26114-OMIM_616460-HP_0000007-GENCC_100004"	"HGNC:26114"	"EDC3"	"MONDO:0014649"	"intellectual disability, autosomal recessive 50"	"OMIM:616460"	"?Intellectual developmental disorder, autosomal recessive 50"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26114"	"EDC3"	"OMIM:616460"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"25701870"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDC30ID"	"2023-11-30"
"GENCC_000106-HGNC_3176-OMIM_615706-HP_0000007-GENCC_100002"	"HGNC:3176"	"EDN1"	"MONDO:0014312"	"auriculocondylar syndrome 3"	"OMIM:615706"	"Auriculocondylar syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3176"	"EDN1"	"OMIM:615706"	"auriculocondylar syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"24268655, 8152482"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDN10Auriculo04"	"2023-11-30"
"GENCC_000106-HGNC_3178-OMIM_613265-HP_0000007-GENCC_100002"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"OMIM:613265"	"Waardenburg syndrome, type 4B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3178"	"EDN3"	"OMIM:613265"	"Waardenburg-Shah syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-26 14:52:17"	""	""	"11303518, 12189494, 19764030, 20127975, 20583152, 2287613, 30394532, 30936914, 8001160, 8630502, 8630503, 9587491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDN30Waardenburg"	"2023-11-30"
"GENCC_000106-HGNC_3179-OMIM_616367-HP_0000006-GENCC_100002"	"HGNC:3179"	"EDNRA"	"MONDO:0014608"	"mandibulofacial dysostosis with alopecia"	"OMIM:616367"	"Mandibulofacial dysostosis with alopecia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3179"	"EDNRA"	"OMIM:616367"	"mandibulofacial dysostosis with alopecia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:15"	""	""	"16116593, 25772936, 27671791"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDNRA0Mandibulo"	"2023-11-30"
"GENCC_000106-HGNC_3180-OMIM_277580-HP_0000006-GENCC_100002"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"OMIM:277580"	"Waardenburg syndrome, type 4A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3180"	"EDNRB"	"OMIM:277580"	"Waardenburg-Shah syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:06"	""	""	"10528251, 20127975, 30394532"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDNRB0Waardenburg02"	"2023-11-30"
"GENCC_000106-HGNC_3218-OMIM_126600-HP_0000006-GENCC_100002"	"HGNC:3218"	"EFEMP1"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"OMIM:126600"	"Doyne honeycomb degeneration of retina"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3218"	"EFEMP1"	"OMIM:126600"	"Doyne honeycomb retinal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-20 08:29:08"	""	""	"10369267, 12242346, 17666404, 22031286, 25077532, 25082885, 9230832"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EFEMP10RetinalDegen"	"2023-11-30"
"GENCC_000106-HGNC_3219-OMIM_614437-HP_0000007-GENCC_100002"	"HGNC:3219"	"EFEMP2"	"MONDO:0013754"	"cutis laxa, autosomal recessive, type 1B"	"OMIM:614437"	"Cutis laxa, autosomal recessive, type IB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3219"	"EFEMP2"	"OMIM:614437"	"autosomal recessive cutis laxa type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:07:48"	""	""	"17937443, 20389311"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EFEMP20CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_3239-OMIM_605253-HP_0000007-GENCC_100002"	"HGNC:3239"	"EGR2"	"MONDO:0011527"	"Charcot-Marie-Tooth disease type 4E"	"OMIM:605253"	"Hypomyelinating neuropathy, congenital, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3239"	"EGR2"	"OMIM:605253"	"Charcot-Marie-Tooth disease type 4E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-01 14:41:14"	""	""	"10369870, 17717711, 22522483, 7935840, 9537424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EGR20CMT02"	"2023-11-30"
"GENCC_000106-HGNC_3247-OMIM_615605-HP_0000006-GENCC_100004"	"HGNC:3247"	"EHHADH"	"MONDO:0014275"	"Fanconi renotubular syndrome 3"	"OMIM:615605"	"?Fanconi renotubular syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3247"	"EHHADH"	"OMIM:615605"	"primary Fanconi syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 12:43:37"	""	""	"24401050, 27160910"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EHHADH0?Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_19687-OMIM_234810-HP_0000007-GENCC_100002"	"HGNC:19687"	"EIF2AK4"	"MONDO:0009329"	"pulmonary venoocclusive disease 2"	"OMIM:234810"	"Pulmonary venoocclusive disease 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19687"	"EIF2AK4"	"OMIM:234810"	"pulmonary venoocclusive disease 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 21:55:07"	""	""	"12215525, 24310610, 28972005, 29743074"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2AK40PulmHypertens"	"2023-11-30"
"GENCC_000106-HGNC_3258-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3258"	"EIF2B2"	"MONDO:0020507"	"leukoencephalopathy with vanishing white matter 1"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3258"	"EIF2B2"	"OMIM:603896"	"ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 16:06:52"	""	""	"11704758, 12707859, 16807905, 21484434, 21560189, 22992991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2B20LVWM"	"2023-11-30"
"GENCC_000106-HGNC_3259-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3259"	"EIF2B3"	"MONDO:0020507"	"leukoencephalopathy with vanishing white matter 1"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3259"	"EIF2B3"	"OMIM:603896"	"ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 11:44:50"	""	""	"11835386, 21560189, 25600065, 25761052, 33432707, 34745209"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2B30LVWM"	"2023-11-30"
"GENCC_000106-HGNC_3260-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3260"	"EIF2B4"	"MONDO:0020507"	"leukoencephalopathy with vanishing white matter 1"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3260"	"EIF2B4"	"OMIM:603896"	"ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"11835386, 15776425, 16807905, 21560189, 25600065"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2B40LVWM"	"2023-11-30"
"GENCC_000106-HGNC_3261-OMIM_603896-HP_0000007-GENCC_100002"	"HGNC:3261"	"EIF2B5"	"MONDO:0020507"	"leukoencephalopathy with vanishing white matter 1"	"OMIM:603896"	"Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3261"	"EIF2B5"	"OMIM:603896"	"ovarioleukodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 19:00:26"	""	""	"11704758, 15060152, 15136673, 21307862, 25761052"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2B50LVWM"	"2023-11-30"
"GENCC_000106-HGNC_3267-OMIM_300148-HP_0001417-GENCC_100002"	"HGNC:3267"	"EIF2S3"	"MONDO:0010258"	"MEHMO syndrome"	"OMIM:300148"	"MEHMO syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3267"	"EIF2S3"	"OMIM:300148"	"MEHMO syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-27 20:42:58"	""	""	"23063529, 27333055"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2S30ID"	"2023-11-30"
"GENCC_000106-HGNC_14198-OMIM_615440-HP_0000007-GENCC_100002"	"HGNC:14198"	"ELAC2"	"MONDO:0014190"	"combined oxidative phosphorylation defect type 17"	"OMIM:615440"	"Combined oxidative phosphorylation deficiency 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14198"	"ELAC2"	"OMIM:615440"	"combined oxidative phosphorylation defect type 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"1890496, 23849775, 27769300, 31045291, 5637003"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELAC20OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_26158-OMIM_615429-HP_0000007-GENCC_100004"	"HGNC:26158"	"ELMOD3"	"MONDO:0014182"	"autosomal recessive nonsyndromic hearing loss 88"	"OMIM:615429"	"?Deafness, autosomal recessive 88"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26158"	"ELMOD3"	"OMIM:615429"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"24039609, 251362, 29713870, 30284680"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELMOD30Deafness"	"2023-11-30"
"GENCC_000106-HGNC_14418-OMIM_618527-HP_0000006-GENCC_100002"	"HGNC:14418"	"ELOVL1"	"MONDO:0032798"	"ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features"	"OMIM:618527"	"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14418"	"ELOVL1"	"OMIM:618527"	"ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-09 13:35:15"	""	""	"29496980, 30487246, 35379526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELOVL10ELOVL1rel"	"2023-11-30"
"GENCC_000106-HGNC_18248-OMIM_617270-HP_0000007-GENCC_100002"	"HGNC:18248"	"ELP2"	"MONDO:0014996"	"intellectual disability, autosomal recessive 58"	"OMIM:617270"	"Intellectual developmental disorder, autosomal recessive 58"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18248"	"ELP2"	"OMIM:617270"	"intellectual disability, autosomal recessive 58"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 13:16:51"	""	""	"21937992, 25847581, 32573669, 33393008, 33976153, 34653680"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELP20ID"	"2023-11-30"
"GENCC_000106-HGNC_27609-OMIM_619264-HP_0000007-GENCC_100002"	"HGNC:27609"	"EMC10"	"MONDO:0031011"	"neurodevelopmental disorder with dysmorphic facies and variable seizures"	"OMIM:619264"	"Neurodevelopmental disorder with dysmorphic facies and variable seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27609"	"EMC10"	"OMIM:619264"	"neurodevelopmental disorder with dysmorphic facies and variable seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 13:01:50"	""	""	"29884787, 32869858, 33531666"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EMC100EMC10rel"	"2023-11-30"
"GENCC_000106-HGNC_3331-OMIM_310300-HP_0001417-GENCC_100002"	"HGNC:3331"	"EMD"	"MONDO:0010680"	"X-linked Emery-Dreifuss muscular dystrophy"	"OMIM:310300"	"Emery-Dreifuss muscular dystrophy 1, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3331"	"EMD"	"OMIM:310300"	"X-linked Emery-Dreifuss muscular dystrophy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-14 07:47:40"	""	""	"10382909, 19716112, 21697856, 24365856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EMD0Emery0EDMD"	"2023-11-30"
"GENCC_000106-HGNC_16912-OMIM_211180-HP_0000007-GENCC_100004"	"HGNC:16912"	"EMG1"	"MONDO:0008879"	"Bowen-Conradi syndrome"	"OMIM:211180"	"Bowen-Conradi syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16912"	"EMG1"	"OMIM:211180"	"Bowen-Conradi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"19463982, 20858271, 248786, 25708872, 25799636, 26975778, 27798105, 28542158"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EMG10BCS"	"2023-11-30"
"GENCC_000106-HGNC_3330-OMIM_600348-HP_0000007-GENCC_100002"	"HGNC:3330"	"EML1"	"MONDO:0010873"	"band heterotopia of brain"	"OMIM:600348"	"Band heterotopia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3330"	"EML1"	"OMIM:600348"	"band heterotopia of brain"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 12:53:40"	""	""	"24859200, 28556411, 31173351"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EML10BandHete"	"2023-11-30"
"GENCC_000106-HGNC_3334-OMIM_615861-HP_0000007-GENCC_100002"	"HGNC:3334"	"EMP2"	"MONDO:0014373"	"nephrotic syndrome, type 10"	"OMIM:615861"	"Nephrotic syndrome, type 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3334"	"EMP2"	"OMIM:615861"	"nephrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"24814193, 2512529, 282788, 31508419"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EMP20NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_3344-OMIM_104500-HP_0000006-GENCC_100002"	"HGNC:3344"	"ENAM"	"MONDO:0007092"	"amelogenesis imperfecta type 1B"	"OMIM:104500"	"Amelogenesis imperfecta, type IB"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3344"	"ENAM"	"OMIM:104500"	"amelogenesis imperfecta type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:06"	""	""	"12828988, 15235027, 16246937, 18252720, 21597265, 25143514"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ENAM0AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_3344-OMIM_204650-HP_0000007-GENCC_100002"	"HGNC:3344"	"ENAM"	"MONDO:0008770"	"amelogenesis imperfecta type 1C"	"OMIM:204650"	"Amelogenesis imperfecta, type IC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3344"	"ENAM"	"OMIM:204650"	"amelogenesis imperfecta type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-24 10:24:17"	""	""	"10463726, 14684688, 16246937, 17125728, 171778, 19329462, 20439930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ENAM0AmelogenImp02"	"2023-11-30"
"GENCC_000106-HGNC_3349-OMIM_187300-HP_0000006-GENCC_100002"	"HGNC:3349"	"ENG"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"OMIM:187300"	"Telangiectasia, hereditary hemorrhagic, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3349"	"ENG"	"OMIM:187300"	"hereditary hemorrhagic telangiectasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-25 22:36:58"	""	""	"10348742, 15879500, 16690726, 16752392, 20414677, 20656886, 22385575, 7894484, 8162075, 9245986"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ENG0HHT"	"2023-11-30"
"GENCC_000106-HGNC_3356-OMIM_615522-HP_0000006-GENCC_100002"	"HGNC:3356"	"ENPP1"	"MONDO:0014227"	"hypopigmentation-punctate palmoplantar keratoderma syndrome"	"OMIM:615522"	"Cole disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3356"	"ENPP1"	"OMIM:615522"	"hypopigmentation-punctate palmoplantar keratoderma syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:06"	""	""	"24075184, 26617416, 28964717"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ENPP10ColeDisease"	"2023-11-30"
"GENCC_000106-HGNC_11529-OMIM_613217-HP_0000007-GENCC_100002"	"HGNC:11529"	"EPCAM"	"MONDO:0013184"	"congenital diarrhea 5 with tufting enteropathy"	"OMIM:613217"	"Diarrhea 5, with tufting enteropathy, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11529"	"EPCAM"	"OMIM:613217"	"congenital diarrhea 5 with tufting enteropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-29 09:31:16"	""	""	"18572020, 20034091, 20981223, 21315192, 24142340, 28361844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPCAM0CTE"	"2023-11-30"
"GENCC_000106-HGNC_11529-OMIM_613244-HP_0000006-GENCC_100002"	"HGNC:11529"	"EPCAM"	"MONDO:0013196"	"Lynch syndrome 8"	"OMIM:613244"	"Lynch syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11529"	"EPCAM"	"OMIM:613244"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-08 08:59:53"	""	""	"18398828, 19098912, 19188665, 19215248, 19900449, 20046825, 20301390, 21309036, 21642682, 23091106, 23938213, 26101330, 26657901, 27013479, 28754778, 28772289, 31337882"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPCAM0Lynch"	"2023-11-30"
"GENCC_000106-HGNC_3386-OMIM_116600-HP_0000006-GENCC_100002"	"HGNC:3386"	"EPHA2"	"MONDO:0007288"	"cataract 6 multiple types"	"OMIM:116600"	"Cataract 6, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3386"	"EPHA2"	"OMIM:116600"	"cataract 6 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:16"	""	""	"19005574, 19306328, 19649315, 20361013, 22570727, 22935719, 23447127, 24014202, 24940039, 24968223, 25148791, 29039721, 9002669"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPHA20CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_3415-OMIM_617907-HP_0000006-GENCC_100002"	"HGNC:3415"	"EPO"	"MONDO:0033483"	"erythrocytosis, familial, 5"	"OMIM:617907"	"Erythrocytosis, familial, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3415"	"EPO"	"OMIM:617907"	"erythrocytosis, familial, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:16"	""	""	"27651169, 29514032"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPO0FamErythr"	"2023-11-30"
"GENCC_000106-HGNC_21296-OMIM_617637-HP_0000007-GENCC_100002"	"HGNC:21296"	"EPS8L2"	"MONDO:0033198"	"hearing loss, autosomal recessive 106"	"OMIM:617637"	"Deafness autosomal recessive 106"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21296"	"EPS8L2"	"OMIM:617637"	"hearing loss, autosomal recessive 106"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"23918390, 26282398, 28281779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPS8L20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_3433-OMIM_610758-HP_0000007-GENCC_100002"	"HGNC:3433"	"ERCC1"	"MONDO:0012554"	"cerebrooculofacioskeletal syndrome 4"	"OMIM:610758"	"Cerebrooculofacioskeletal syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3433"	"ERCC1"	"OMIM:610758"	"Cockayne syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 12:57:54"	""	""	"17273966, 23623389"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC10Cockayne"	"2023-11-30"
"GENCC_000106-HGNC_26922-OMIM_615715-HP_0000007-GENCC_100002"	"HGNC:26922"	"ERCC6L2"	"MONDO:0014317"	"pancytopenia-developmental delay syndrome"	"OMIM:615715"	"Bone marrow failure syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26922"	"ERCC6L2"	"OMIM:615715"	"pancytopenia-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-11 23:16:18"	""	""	"24507776, 27185855, 28815563, 29146883, 29987015"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC6L20BMF"	"2023-11-30"
"GENCC_000106-HGNC_3444-OMIM_617180-HP_0000006-GENCC_100002"	"HGNC:3444"	"ERF"	"MONDO:0014956"	"Chitayat syndrome"	"OMIM:617180"	"Chitayat syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3444"	"ERF"	"OMIM:617180"	"Chitayat syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:16"	""	""	"27738187, 32592542"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERF0Chitayat"	"2023-11-30"
"GENCC_000106-HGNC_29205-OMIM_208100-HP_0000007-GENCC_100004"	"HGNC:29205"	"ERGIC1"	"MONDO:0008823"	"arthrogryposis multiplex congenita 2, neurogenic type"	"OMIM:208100"	"?Arthrogryposis multiplex congenita 2, neurogenic type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29205"	"ERGIC1"	"OMIM:208100"	"arthrogryposis multiplex congenita 2, neurogenic type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-27 13:37:28"	""	""	"28317099, 31230720"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERGIC10Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_27230-OMIM_268300-HP_0000007-GENCC_100002"	"HGNC:27230"	"ESCO2"	"MONDO:0100253"	"Roberts-SC phocomelia syndrome"	"OMIM:268300"	"Roberts-SC phocomelia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27230"	"ESCO2"	"OMIM:268300"	"Roberts-SC phocomelia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-05 13:11:32"	""	""	"15821733, 16380922"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ESCO20RobertsSynd"	"2023-11-30"
"GENCC_000106-HGNC_3467-OMIM_615363-HP_0000007-GENCC_100004"	"HGNC:3467"	"ESR1"	"MONDO:0014148"	"estrogen resistance syndrome"	"OMIM:615363"	"Estrogen resistance"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3467"	"ESR1"	"OMIM:615363"	"estrogen resistance syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"23841731, 27754803, 8090165"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ESR10EstrogResist"	"2023-11-30"
"GENCC_000106-HGNC_3473-OMIM_608565-HP_0000007-GENCC_100002"	"HGNC:3473"	"ESRRB"	"MONDO:0012060"	"autosomal recessive nonsyndromic hearing loss 35"	"OMIM:608565"	"Deafness, autosomal recessive 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3473"	"ESRRB"	"OMIM:608565"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:30:59"	""	""	"1817989, 18179891, 21802533, 22567352, 22951369, 23767834, 23967202, 25023176, 25342930, 26166082, 26226137, 27610647, 29048421, 29636544, 30245029, 30622556, 9285590"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ESRRB0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_3497-OMIM_225500-HP_0000007-GENCC_100002"	"HGNC:3497"	"EVC"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"OMIM:225500"	"Ellis-van Creveld syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3497"	"EVC"	"OMIM:225500"	"Ellis-van Creveld syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 19:30:09"	""	""	"10700184, 17024374, 23220543, 26748586"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EVC0EllisVanCreveld"	"2023-11-30"
"GENCC_000106-HGNC_19747-OMIM_225500-HP_0000007-GENCC_100002"	"HGNC:19747"	"EVC2"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"OMIM:225500"	"Ellis-van Creveld syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19747"	"EVC2"	"OMIM:225500"	"Ellis-van Creveld syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 14:48:34"	""	""	"17024374, 17547743, 19810119, 19876929, 225500, 23220543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EVC20EllisVanCreveld"	"2023-11-30"
"GENCC_000106-HGNC_19747-OMIM_193530-HP_0000006-GENCC_100002"	"HGNC:19747"	"EVC2"	"MONDO:0008673"	"acrofacial dysostosis, Weyers type"	"OMIM:193530"	"?Weyers acrofacial dysostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19747"	"EVC2"	"OMIM:193530"	"acrofacial dysostosis, Weyers type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"16404586, 17024374, 19810119, 19876929, 22616035, 23220543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EVC20Weyes"	"2023-11-30"
"GENCC_000106-HGNC_23214-OMIM_619072-HP_0000007-GENCC_100002"	"HGNC:23214"	"EXOC7"	"MONDO:0033658"	"neurodevelopmental disorder with seizures and brain atrophy"	"OMIM:619072"	"Neurodevelopmental disorder with seizures and brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23214"	"EXOC7"	"OMIM:619072"	"neurodevelopmental disorder with seizures and brain atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-16 20:43:29"	""	""	"32103185, 4057982"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOC70Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_17286-OMIM_619304-HP_0000007-GENCC_100004"	"HGNC:17286"	"EXOSC1"	"MONDO:0030261"	"pontocerebellar hypoplasia, type 1F"	"OMIM:619304"	"?Pontocerebellar hypoplasia, type 1F"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17286"	"EXOSC1"	"OMIM:619304"	"pontocerebellar hypoplasia, type 1F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-04-10 20:52:58"	""	""	"33463720, 37024942"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOSC10PCH"	"2023-11-30"
"GENCC_000106-HGNC_17944-OMIM_614678-HP_0000007-GENCC_100002"	"HGNC:17944"	"EXOSC3"	"MONDO:0013853"	"pontocerebellar hypoplasia type 1B"	"OMIM:614678"	"Pontocerebellar hypoplasia, type 1B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17944"	"EXOSC3"	"OMIM:614678"	"pontocerebellar hypoplasia type 1B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:48:02"	""	""	"22544365, 23284067, 24524299"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOSC30PCH"	"2023-11-30"
"GENCC_000106-HGNC_9137-OMIM_618065-HP_0000007-GENCC_100002"	"HGNC:9137"	"EXOSC9"	"MONDO:0054844"	"pontocerebellar hypoplasia, type 1D"	"OMIM:618065"	"Pontocerebellar hypoplasia, type 1D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9137"	"EXOSC9"	"OMIM:618065"	"pontocerebellar hypoplasia, type 1D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 18:16:09"	""	""	"29727687, 33040083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOSC90PCH"	"2023-11-30"
"GENCC_000106-HGNC_3513-OMIM_133701-HP_0000006-GENCC_100002"	"HGNC:3513"	"EXT2"	"MONDO:0007586"	"exostoses, multiple, type 2"	"OMIM:133701"	"Exostoses, multiple, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3513"	"EXT2"	"OMIM:133701"	"hereditary multiple osteochondromas"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 15:09:31"	""	""	"10679937, 16236767, 18853760, 19810120, 8782816, 8894688, 9326317"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXT20Exostoses"	"2023-11-30"
"GENCC_000106-HGNC_3513-OMIM_616682-HP_0000007-GENCC_100002"	"HGNC:3513"	"EXT2"	"MONDO:0014731"	"seizures-scoliosis-macrocephaly syndrome"	"OMIM:616682"	"Seizures, scoliosis, and macrocephaly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3513"	"EXT2"	"OMIM:616682"	"seizures-scoliosis-macrocephaly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-09 08:29:01"	""	""	"26246518, 30075207, 30288735, 30997052, 35045016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXT20EXT2rel"	"2023-11-30"
"GENCC_000106-HGNC_3529-OMIM_612416-HP_0000006-GENCC_100002"	"HGNC:3529"	"F11"	"MONDO:0012897"	"congenital factor XI deficiency"	"OMIM:612416"	"Factor XI deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3529"	"F11"	"OMIM:612416"	"congenital factor XI deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-27 20:41:12"	""	""	"15728123, 18312365, 19652879, 23929304, 25074526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F11def"	"2023-11-30"
"GENCC_000106-HGNC_3529-OMIM_612416-HP_0000007-GENCC_100002"	"HGNC:3529"	"F11"	"MONDO:0012897"	"congenital factor XI deficiency"	"OMIM:612416"	"Factor XI deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3529"	"F11"	"OMIM:612416"	"congenital factor XI deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-27 20:41:12"	""	""	"18312365, 23929304"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F110F11Def"	"2023-11-30"
"GENCC_000106-HGNC_3530-OMIM_610618-HP_0000006-GENCC_100002"	"HGNC:3530"	"F12"	"MONDO:0012526"	"hereditary angioedema type 3"	"OMIM:610618"	"Angioedema, hereditary, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3530"	"F12"	"OMIM:610618"	"hereditary angioedema"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:07"	""	""	"17186468, 19474702, 22920075, 25816745, 26193639, 27130860"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F120Angioedema"	"2023-11-30"
"GENCC_000106-HGNC_3530-OMIM_234000-HP_0000007-GENCC_100002"	"HGNC:3530"	"F12"	"MONDO:0009315"	"congenital factor XII deficiency"	"OMIM:234000"	"Factor XII deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3530"	"F12"	"OMIM:234000"	"congenital factor XII deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 12:59:47"	""	""	"16009717, 18832903, 20386432, 20729721, 234000, 26105808, 26193639, 9354665"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F120F12Def"	"2023-11-30"
"GENCC_000106-HGNC_3531-OMIM_613225-HP_0000007-GENCC_100002"	"HGNC:3531"	"F13A1"	"MONDO:0013187"	"factor XIII, A subunit, deficiency of"	"OMIM:613225"	"Factor XIIIA deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3531"	"F13A1"	"OMIM:613225"	"factor XIII, A subunit, deficiency of"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 14:49:10"	""	""	"20096014, 21640452, 25230816, 26692088, 26852661"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F13A10F13ADef"	"2023-11-30"
"GENCC_000106-HGNC_3542-OMIM_227400-HP_0000007-GENCC_100002"	"HGNC:3542"	"F5"	"MONDO:0009210"	"congenital factor V deficiency"	"OMIM:227400"	"Factor V deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3542"	"F5"	"OMIM:227400"	"congenital factor V deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 21:16:09"	""	""	"30924984"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F50F5Def"	"2023-11-30"
"GENCC_000106-HGNC_3544-OMIM_227500-HP_0000007-GENCC_100002"	"HGNC:3544"	"F7"	"MONDO:0009211"	"congenital factor VII deficiency"	"OMIM:227500"	"Factor VII deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3544"	"F7"	"OMIM:227500"	"congenital factor VII deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:53:35"	""	""	"15735798, 18976247, 19141157, 22726099, 26852649"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F70F7Def"	"2023-11-30"
"GENCC_000106-HGNC_3551-OMIM_306900-HP_0001417-GENCC_100002"	"HGNC:3551"	"F9"	"MONDO:0010604"	"hemophilia B"	"OMIM:306900"	"Hemophilia B"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3551"	"F9"	"OMIM:306900"	"hemophilia B"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:07"	""	""	"20301668"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F90HemopheliaB"	"2023-11-30"
"GENCC_000106-HGNC_21197-OMIM_612319-HP_0000007-GENCC_100002"	"HGNC:21197"	"FA2H"	"MONDO:0012866"	"hereditary spastic paraplegia 35"	"OMIM:612319"	"Spastic paraplegia 35, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21197"	"FA2H"	"OMIM:612319"	"hereditary spastic paraplegia 35"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 14:04:40"	""	""	"24299421, 25496456, 25732363, 26344562, 27165006, 27316240"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FA2H0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_3573-OMIM_613759-HP_0000007-GENCC_100002"	"HGNC:3573"	"FADD"	"MONDO:0013408"	"FADD-related immunodeficiency"	"OMIM:613759"	"Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3573"	"FADD"	"OMIM:613759"	"FADD-related immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"11353862, 21109225, 25326637, 25794656"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FADD0FADDdef"	"2023-11-30"
"GENCC_000106-HGNC_19959-OMIM_619185-HP_0000007-GENCC_100002"	"HGNC:19959"	"TOGARAM1"	"MONDO:0030933"	"Joubert syndrome 37"	"OMIM:619185"	"Joubert syndrome 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19959"	"TOGARAM1"	"OMIM:619185"	"Joubert syndrome 37"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:51"	""	""	"32453716"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOGARAM10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_23015-OMIM_204690-HP_0000007-GENCC_100002"	"HGNC:23015"	"FAM20A"	"MONDO:0008771"	"amelogenesis imperfecta type 1G"	"OMIM:204690"	"Amelogenesis imperfecta, type IG (enamel-renal syndrome)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23015"	"FAM20A"	"OMIM:204690"	"amelogenesis imperfecta type 1G"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 19:20:15"	""	""	"21990045, 23434854, 24927635, 28298625, 29439260"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM20A0ERS"	"2023-11-30"
"GENCC_000106-HGNC_13872-OMIM_616515-HP_0000007-GENCC_100004"	"HGNC:13872"	"RIPOR2"	"MONDO:0014675"	"autosomal recessive nonsyndromic hearing loss 104"	"OMIM:616515"	"?Deafness, autosomal recessive 104"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13872"	"RIPOR2"	"OMIM:616515"	"autosomal recessive nonsyndromic hearing loss 104"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-07-08 07:32:20"	""	""	"188020, 24958875, 250984, 28383030, 30280293, 32631815"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM65B0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_29170-OMIM_614817-HP_0000007-GENCC_100002"	"HGNC:29170"	"FAN1"	"MONDO:0013898"	"karyomegalic interstitial nephritis"	"OMIM:614817"	"Interstitial nephritis, karyomegalic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29170"	"FAN1"	"OMIM:614817"	"karyomegalic interstitial nephritis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-18 07:29:03"	""	""	"12401846, 16678356, 17304531, 22772369, 240440, 246304, 249482, 251136, 26980188, 26980189, 27026368, 281014, 282752"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAN10InterNeph"	"2023-11-30"
"GENCC_000106-HGNC_3582-OMIM_227650-HP_0000007-GENCC_100002"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"OMIM:227650"	"Fanconi anemia, complementation group A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3582"	"FANCA"	"OMIM:227650"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 19:53:59"	""	""	"19367192, 7581462, 8896563"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCA0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_3584-OMIM_227645-HP_0000007-GENCC_100002"	"HGNC:3584"	"FANCC"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"OMIM:227645"	"Fanconi anemia, complementation group C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3584"	"FANCC"	"OMIM:227645"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-06-28 13:23:34"	""	""	"1574115, 17924555, 24773018, 8348157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCC0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_17800-OMIM_618007-HP_0000007-GENCC_100002"	"HGNC:17800"	"FARSB"	"MONDO:0100215"	"Rajab interstitial lung disease with brain calcifications 1"	"OMIM:618007"	"OMIM:618007"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17800"	"FARSB"	"OMIM:618007"	"Rajab interstitial lung disease with brain calcifications 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:10"	""	""	"29573043, 29979980, 30014610"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FARSB0FARSBrel"	"2023-11-30"
"GENCC_000106-HGNC_11920-OMIM_601859-HP_0000006-GENCC_100002"	"HGNC:11920"	"FAS"	"MONDO:0011158"	"autoimmune lymphoproliferative syndrome type 1"	"OMIM:601859"	"{Autoimmune lymphoproliferative syndrome}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11920"	"FAS"	"OMIM:601859"	"autoimmune lymphoproliferative syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:07"	""	""	"10875918, 20360470, 22237435"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAS0AutoLymphSyn"	"2023-11-30"
"GENCC_000106-HGNC_11936-OMIM_601859-HP_0000006-GENCC_100004"	"HGNC:11936"	"FASLG"	"MONDO:0011158"	"autoimmune lymphoproliferative syndrome type 1"	"OMIM:601859"	"{Autoimmune lymphoproliferative syndrome}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11936"	"FASLG"	"OMIM:601859"	"autoimmune lymphoproliferative syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:27"	""	""	"17605793, 8787672"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FASLG0AutoLymphSyn02"	"2023-11-30"
"GENCC_000106-HGNC_3602-OMIM_219100-HP_0000007-GENCC_100002"	"HGNC:3602"	"FBLN5"	"MONDO:0009052"	"cutis laxa, autosomal recessive, type 1A"	"OMIM:219100"	"Cutis laxa, autosomal recessive, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3602"	"FBLN5"	"OMIM:219100"	"autosomal recessive cutis laxa type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-04 19:48:06"	""	""	"11805834, 11805835, 12189163, 12618961, 16652333, 16691202, 17035250, 18185537, 20007835, 20599547, 21152794, 22829427"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBLN50CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_28844-OMIM_615575-HP_0000006-GENCC_100002"	"HGNC:28844"	"FBXO38"	"MONDO:0014259"	"neuronopathy, distal hereditary motor, type 2D"	"OMIM:615575"	"Neuronopathy, distal hereditary motor, autosomal dominant 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28844"	"FBXO38"	"OMIM:615575"	"distal hereditary motor neuropathy type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:17"	""	""	"24207122, 25207122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXO380HMN"	"2023-11-30"
"GENCC_000106-HGNC_13607-OMIM_618914-HP_0000006-GENCC_100002"	"HGNC:13607"	"FBXW11"	"MONDO:0030057"	"neurodevelopmental, jaw, eye, and digital syndrome"	"OMIM:618914"	"Neurodevelopmental, jaw, eye, and digital syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13607"	"FBXW11"	"OMIM:618914"	"neurodevelopmental, jaw, eye, and digital syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 10:51:14"	""	""	"31402090"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXW110Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_29002-OMIM_619164-HP_0000007-GENCC_100002"	"HGNC:29002"	"FCHO1"	"MONDO:0030898"	"immunodeficiency 76"	"OMIM:619164"	"Immunodeficiency 76"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29002"	"FCHO1"	"OMIM:619164"	"immunodeficiency 76"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-12 09:24:53"	""	""	"30822429"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FCHO10CID"	"2023-11-30"
"GENCC_000106-HGNC_3629-OMIM_618156-HP_0000007-GENCC_100004"	"HGNC:3629"	"FDFT1"	"MONDO:0032566"	"squalene synthase deficiency"	"OMIM:618156"	"Squalene synthase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3629"	"FDFT1"	"OMIM:618156"	"squalene synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-11-20 14:46:43"	""	""	"10521476, 116810, 29909962"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FDFT10SSD"	"2023-11-30"
"GENCC_000106-HGNC_22788-OMIM_616030-HP_0000007-GENCC_100002"	"HGNC:22788"	"FEZF1"	"MONDO:0014461"	"hypogonadotropic hypogonadism 22 with or without anosmia"	"OMIM:616030"	"Hypogonadotropic hypogonadism 22, with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22788"	"FEZF1"	"OMIM:616030"	"Kallmann syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-10 08:57:44"	""	""	"19479999, 25192046"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FEZF10Kallmann"	"2023-11-30"
"GENCC_000106-HGNC_3663-OMIM_305400-HP_0001417-GENCC_100002"	"HGNC:3663"	"FGD1"	"MONDO:0010589"	"Aarskog-Scott syndrome, X-linked"	"OMIM:305400"	"Aarskog-Scott syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3663"	"FGD1"	"OMIM:305400"	"faciodigitogenital syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:32:04"	""	""	"20082460, 21739585, 22854039, 23211637, 23871722, 25046119, 26029706"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGD10Aarskog"	"2023-11-30"
"GENCC_000106-HGNC_3668-OMIM_617166-HP_0000006-GENCC_100002"	"HGNC:3668"	"FGF12"	"MONDO:0014949"	"developmental and epileptic encephalopathy, 47"	"OMIM:617166"	"Developmental and epileptic encephalopathy 47"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3668"	"FGF12"	"OMIM:617166"	"undetermined early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-12 17:51:06"	""	""	"27164707, 27830185, 27872899, 28506426, 28554332, 28775062, 31292943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF120EIEE"	"2023-11-30"
"GENCC_000106-HGNC_3670-OMIM_301058-HP_0001417-GENCC_100002"	"HGNC:3670"	"FGF13"	"MONDO:0025353"	"developmental and epileptic encephalopathy, 90"	"OMIM:301058"	"Developmental and epileptic encephalopathy 90"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3670"	"FGF13"	"OMIM:301058"	"developmental and epileptic encephalopathy, 90"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-23 13:56:20"	""	""	"23373430, 23603273, 26063919, 27502037, 28446957, 33245860"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF130FGF13rel"	"2023-11-30"
"GENCC_000106-HGNC_3672-OMIM_309630-HP_0001417-GENCC_100002"	"HGNC:3672"	"FGF16"	"MONDO:0010669"	"syndactyly type 8"	"OMIM:309630"	"Metacarpal 4-5 fusion"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3672"	"FGF16"	"OMIM:309630"	"syndactyly type 8"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:08"	""	""	"23709756, 24706454, 24878828, 25333065"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF160MF4"	"2023-11-30"
"GENCC_000106-HGNC_3673-OMIM_615270-HP_0000006-GENCC_100002"	"HGNC:3673"	"FGF17"	"MONDO:0014106"	"hypogonadotropic hypogonadism 20 with or without anosmia"	"OMIM:615270"	"Hypogonadotropic hypogonadism 20 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3673"	"FGF17"	"OMIM:615270"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-31 09:25:42"	""	""	"23643382, 29419413, 31200363, 31748124"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF170Hypogona07"	"2023-11-30"
"GENCC_000106-HGNC_3677-OMIM_615721-HP_0000007-GENCC_100004"	"HGNC:3677"	"FGF20"	"MONDO:0014319"	"renal hypodysplasia/aplasia 2"	"OMIM:615721"	"?Renal hypodysplasia/aplasia 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3677"	"FGF20"	"OMIM:615721"	"renal agenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"22698282"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF200?RenalHy"	"2023-11-30"
"GENCC_000106-HGNC_3680-OMIM_193100-HP_0000006-GENCC_100002"	"HGNC:3680"	"FGF23"	"MONDO:0008660"	"autosomal dominant hypophosphatemic rickets"	"OMIM:193100"	"Hypophosphatemic rickets, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3680"	"FGF23"	"OMIM:193100"	"autosomal dominant hypophosphatemic rickets"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:08"	""	""	"11062477, 12130585, 12414858, 21710177, 23038738, 23174215, 28383812, 9389727"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF230HypophosRicket"	"2023-11-30"
"GENCC_000106-HGNC_3680-OMIM_617993-HP_0000007-GENCC_100002"	"HGNC:3680"	"FGF23"	"MONDO:0060714"	"tumoral calcinosis, hyperphosphatemic, familial, 2"	"OMIM:617993"	"Tumoral calcinosis, hyperphosphatemic, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3680"	"FGF23"	"OMIM:617993"	"tumoral calcinosis, hyperphosphatemic, familial, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-01 13:24:10"	""	""	"12130585, 14966565, 15590700, 15687325, 16030159, 16031059, 16151858, 18682534, 19188744, 19411468, 19830424, 19837926, 20358599, 24680727, 25153226, 25378588, 29548779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF230TumoralCalc"	"2023-11-30"
"GENCC_000106-HGNC_15465-OMIM_615501-HP_0000007-GENCC_100002"	"HGNC:15465"	"GPHN"	"MONDO:0014212"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"	"OMIM:615501"	"Molybdenum cofactor deficiency C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15465"	"GPHN"	"OMIM:615501"	"encephalopathy due to sulfite oxidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:17:23"	""	""	"11095995, 12684523, 22040219, 9812897"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPHN0MolybdCofacDef"	"2023-11-30"
"GENCC_000106-HGNC_14963-OMIM_300943-HP_0001417-GENCC_100002"	"HGNC:14963"	"GPR101"	"MONDO:0010492"	"pituitary adenoma, growth hormone-secreting, 2"	"OMIM:300943"	"Pituitary adenoma 2, GH-secreting"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:14963"	"GPR101"	"OMIM:300943"	"acromegaly"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-17 01:07:09"	""	""	"27245663, 29678281, 30525125, 30711029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPR1010Acromegaly"	"2023-11-30"
"GENCC_000106-HGNC_4519-OMIM_617217-HP_0000007-GENCC_100002"	"HGNC:4519"	"GPR68"	"MONDO:0014971"	"amelogenesis imperfecta, hypomaturation type, IIa6"	"OMIM:617217"	"Amelogenesis imperfecta, hypomaturation type, IIA6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4519"	"GPR68"	"OMIM:617217"	"amelogenesis imperfecta type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"12955148, 27693231"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPR680AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_18062-OMIM_616281-HP_0000007-GENCC_100002"	"HGNC:18062"	"GPT2"	"MONDO:0014567"	"glutamate pyruvate transaminase 2 deficiency"	"OMIM:616281"	"Neurodevelopmental disorder with microcephaly and spastic paraplegia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18062"	"GPT2"	"OMIM:616281"	"glutamate pyruvate transaminase 2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-15 07:29:55"	""	""	"24901346, 27601654, 28130718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPT20ID"	"2023-11-30"
"GENCC_000106-HGNC_2799-OMIM_616029-HP_0000007-GENCC_100002"	"HGNC:2799"	"GRHL2"	"MONDO:0014460"	"nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"	"OMIM:616029"	"Ectodermal dysplasia/short stature syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2799"	"GRHL2"	"OMIM:616029"	"nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"390625, 25152456"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRHL20EDSSS"	"2023-11-30"
"GENCC_000106-HGNC_4572-OMIM_618917-HP_0000006-GENCC_100002"	"HGNC:4572"	"GRIA2"	"MONDO:0030060"	"neurodevelopmental disorder with language impairment and behavioral abnormalities"	"OMIM:618917"	"Neurodevelopmental disorder with language impairment and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4572"	"GRIA2"	"OMIM:618917"	"neurodevelopmental disorder with language impairment and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-30 10:25:11"	""	""	"22669415, 27824329, 28295210, 31300657"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIA20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_4580-OMIM_611092-HP_0000007-GENCC_100002"	"HGNC:4580"	"GRIK2"	"MONDO:0012614"	"intellectual disability, autosomal recessive 6"	"OMIM:611092"	"Intellectual developmental disorder, autosomal recessive 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4580"	"GRIK2"	"OMIM:611092"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:48"	""	""	"17847003, 23223307, 24753134, 25039795, 2580260"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIK20ID"	"2023-11-30"
"GENCC_000106-HGNC_4585-OMIM_245570-HP_0000006-GENCC_100002"	"HGNC:4585"	"GRIN2A"	"MONDO:0009509"	"Landau-Kleffner syndrome"	"OMIM:245570"	"Epilepsy, focal, with speech disorder and with or without impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4585"	"GRIN2A"	"OMIM:245570"	"continuous spikes and waves during sleep"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 17:31:11"	""	""	"23933819, 23933820"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIN2A0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_4588-OMIM_617162-HP_0000006-GENCC_100002"	"HGNC:4588"	"GRIN2D"	"MONDO:0014947"	"developmental and epileptic encephalopathy, 46"	"OMIM:617162"	"Developmental and epileptic encephalopathy 46"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4588"	"GRIN2D"	"OMIM:617162"	"undetermined early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-11 17:31:07"	""	""	"27616483, 28491004, 29186148, 29317596, 29473046, 30280376, 31504254, 31918992"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIN2D0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_18708-OMIM_617667-HP_0000007-GENCC_100002"	"HGNC:18708"	"GRIP1"	"MONDO:0054739"	"Fraser syndrome 3"	"OMIM:617667"	"Fraser syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18708"	"GRIP1"	"OMIM:617667"	"Fraser syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-15 07:31:02"	""	""	"22510445, 24357607"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIP10FraserSy"	"2023-11-30"
"GENCC_000106-HGNC_10013-OMIM_613411-HP_0000007-GENCC_100002"	"HGNC:10013"	"GRK1"	"MONDO:0013259"	"Oguchi disease-2"	"OMIM:613411"	"Oguchi disease-2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10013"	"GRK1"	"OMIM:613411"	"Oguchi disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-11 12:58:10"	""	""	"17765441, 19753316, 21987686, 26349155, 9020843"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRK10Oguchi"	"2023-11-30"
"GENCC_000106-HGNC_4599-OMIM_618922-HP_0000007-GENCC_100002"	"HGNC:4599"	"GRM7"	"MONDO:0030063"	"neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities"	"OMIM:618922"	"Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4599"	"GRM7"	"OMIM:618922"	"neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 21:14:48"	""	""	"27435318, 28097321, 32286009"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRM70GRM7rel"	"2023-11-30"
"GENCC_000106-HGNC_4601-OMIM_614706-HP_0000007-GENCC_100002"	"HGNC:4601"	"GRN"	"MONDO:0013866"	"neuronal ceroid lipofuscinosis 11"	"OMIM:614706"	"Ceroid lipofuscinosis, neuronal, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4601"	"GRN"	"OMIM:614706"	"adult neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"22608501, 27021778"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLN0GRN"	"2023-11-30"
"GENCC_000106-HGNC_4601-OMIM_607485-HP_0000006-GENCC_100002"	"HGNC:4601"	"GRN"	"MONDO:0011842"	"GRN-related frontotemporal lobar degeneration with Tdp43 inclusions"	"OMIM:607485"	"Aphasia, primary progressive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4601"	"GRN"	"OMIM:607485"	"frontotemporal dementia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-14 14:33:20"	""	""	"16862115, 16862116, 16950801, 17620546, 20522652, 22608501, 27021778"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRN0FTD"	"2023-11-30"
"GENCC_000106-HGNC_33862-OMIM_615837-HP_0000007-GENCC_100002"	"HGNC:33862"	"GRXCR2"	"MONDO:0014363"	"autosomal recessive nonsyndromic hearing loss 101"	"OMIM:615837"	"?Deafness, autosomal recessive 101"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33862"	"GRXCR2"	"OMIM:615837"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-04 19:49:22"	""	""	"24619944, 251322, 251378, 251390, 28383030, 32048449, 32860223, 33528103"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRXCR20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4612-OMIM_602471-HP_0000007-GENCC_100002"	"HGNC:4612"	"GSC"	"MONDO:0011227"	"short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"	"OMIM:602471"	"Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4612"	"GSC"	"OMIM:602471"	"short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:42:04"	""	""	"24290375"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GSC0ShortStature"	"2023-11-30"
"GENCC_000106-HGNC_4620-OMIM_105120-HP_0000006-GENCC_100002"	"HGNC:4620"	"GSN"	"MONDO:0007097"	"Finnish type amyloidosis"	"OMIM:105120"	"Amyloidosis, Finnish type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4620"	"GSN"	"OMIM:105120"	"Finnish type amyloidosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 09:31:50"	""	""	"10684249, 11753432, 14640038, 1652889, 27633054, 30417985, 7720072, 8395367"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GSN0GSNamyloidosis"	"2023-11-30"
"GENCC_000106-HGNC_4679-OMIM_613827-HP_0000006-GENCC_100002"	"HGNC:4679"	"GUCA1B"	"MONDO:0013447"	"retinitis pigmentosa 48"	"OMIM:613827"	"Retinitis pigmentosa 48"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4679"	"GUCA1B"	"OMIM:613827"	"retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:11:13"	""	""	"15452722, 15505030, 22025579, 24938718, 25445212, 25698705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUCA1B0RP"	"2023-11-30"
"GENCC_000106-HGNC_4688-OMIM_614616-HP_0000006-GENCC_100002"	"HGNC:4688"	"GUCY2C"	"MONDO:0013825"	"congenital diarrhea 6"	"OMIM:614616"	"Diarrhea 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4688"	"GUCY2C"	"OMIM:614616"	"congenital diarrhea 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-06 10:04:10"	""	""	"22436048, 25994218"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUCY2C0CongSodDiarrh"	"2023-11-30"
"GENCC_000106-HGNC_4688-OMIM_614665-HP_0000007-GENCC_100002"	"HGNC:4688"	"GUCY2C"	"MONDO:0013843"	"intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"	"OMIM:614665"	"Meconium ileus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4688"	"GUCY2C"	"OMIM:614665"	"intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22521417, 25370039, 31079856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUCY2C0Meconium"	"2023-11-30"
"GENCC_000106-HGNC_4689-OMIM_601777-HP_0000006-GENCC_100002"	"HGNC:4689"	"GUCY2D"	"MONDO:0011143"	"cone-rod dystrophy 6"	"OMIM:601777"	"Cone-rod dystrophy 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4689"	"GUCY2D"	"OMIM:601777"	"cone-rod dystrophy 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-14 18:26:12"	""	""	"11115851, 12552567, 17270046, 24875811, 26298565, 9618177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUCY2D0ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_4696-OMIM_253220-HP_0000007-GENCC_100002"	"HGNC:4696"	"GUSB"	"MONDO:0009662"	"mucopolysaccharidosis type 7"	"OMIM:253220"	"Mucopolysaccharidosis VII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4696"	"GUSB"	"OMIM:253220"	"mucopolysaccharidosis type 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 15:02:19"	""	""	"19224584, 7633414, 7680524, 9099834, 9490302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUSB0MPS"	"2023-11-30"
"GENCC_000106-HGNC_4795-OMIM_604931-HP_0000007-GENCC_100002"	"HGNC:4795"	"H6PD"	"MONDO:0011503"	"cortisone reductase deficiency 1"	"OMIM:604931"	"Cortisone reductase deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4795"	"H6PD"	"OMIM:604931"	"cortisone reductase deficiency 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"16356929, 18222920, 18628520, 23132696, 242284, 251462, 282726"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"H6PD0Cortison"	"2023-11-30"
"GENCC_000106-HGNC_4801-OMIM_609016-HP_0000007-GENCC_100002"	"HGNC:4801"	"HADHA"	"MONDO:0012173"	"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"OMIM:609016"	"Fatty liver, acute, of pregnancy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4801"	"HADHA"	"OMIM:609016"	"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 20:20:45"	""	""	"21103935, 22459206, 609016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HADHA0LCHADdef"	"2023-11-30"
"GENCC_000106-HGNC_4801-OMIM_609015-HP_0000007-GENCC_100002"	"HGNC:4801"	"HADHA"	"MONDO:0012172"	"mitochondrial trifunctional protein deficiency"	"OMIM:609015"	"Mitochondrial trifunctional protein deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4801"	"HADHA"	"OMIM:609015"	"mitochondrial trifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"21549624, 609015, 7738175"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HADHA0MitoTriFunc"	"2023-11-30"
"GENCC_000106-HGNC_4816-OMIM_616625-HP_0000006-GENCC_100002"	"HGNC:4816"	"HARS1"	"MONDO:0014711"	"autosomal dominant Charcot-Marie-Tooth disease type 2W"	"OMIM:616625"	"Charcot-Marie-Tooth disease, axonal, type 2W"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4816"	"HARS1"	"OMIM:616625"	"autosomal dominant Charcot-Marie-Tooth disease type 2W"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:12"	""	""	"26072516"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HARS0CMT"	"2023-11-30"
"GENCC_000106-HGNC_4817-OMIM_614926-HP_0000007-GENCC_100002"	"HGNC:4817"	"HARS2"	"MONDO:0013972"	"Perrault syndrome 2"	"OMIM:614926"	"Perrault syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4817"	"HARS2"	"OMIM:614926"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:37:31"	""	""	"21464306, 27650058"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HARS20Perrault"	"2023-11-30"
"GENCC_000106-HGNC_4823-OMIM_604131-HP_0000007-GENCC_100002"	"HGNC:4823"	"HBA1"	"MONDO:0011399"	"alpha thalassemia spectrum"	"OMIM:604131"	"Thalassemias, alpha-"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4823"	"HBA1"	"OMIM:604131"	"alpha thalassemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 19:48:43"	""	""	"20301608, 27199182"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBA10Thalassemia"	"2023-11-30"
"GENCC_000106-HGNC_4824-OMIM_140700-HP_0000006-GENCC_100004"	"HGNC:4824"	"HBA2"	"MONDO:0007705"	"Heinz body anemia"	"OMIM:140700"	"Heinz body anemias, alpha-"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4824"	"HBA2"	"OMIM:140700"	"Heinz body anemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-14 13:43:22"	""	""	"2833478, 5639009, 7558871"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBA20HeinzBodyAnemia"	"2023-11-30"
"GENCC_000106-HGNC_4827-OMIM_613985-HP_0000007-GENCC_100002"	"HGNC:4827"	"HBB"	"MONDO:0013517"	"beta-thalassemia HBB/LCRB"	"OMIM:613985"	"Thalassemia, Hispanic gamma-delta-beta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4827"	"HBB"	"OMIM:613985"	"beta thalassemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:34:27"	""	""	"17486503, 20301599, 23637309"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBB0BetaThal"	"2023-11-30"
"GENCC_000106-HGNC_4827-OMIM_140700-HP_0000006-GENCC_100002"	"HGNC:4827"	"HBB"	"MONDO:0007705"	"Heinz body anemia"	"OMIM:140700"	"Heinz body anemias, alpha-"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4827"	"HBB"	"OMIM:140700"	"Heinz body anemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:51:42"	""	""	"10870884, 11920235, 15646651, 16550507, 8704193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBB0HeinzBodyAnemia"	"2023-11-30"
"GENCC_000106-HGNC_4837-OMIM_309801-HP_0001417-GENCC_100002"	"HGNC:4837"	"HCCS"	"MONDO:0024552"	"linear skin defects with multiple congenital anomalies 1"	"OMIM:309801"	"Linear skin defects with multiple congenital anomalies 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4837"	"HCCS"	"OMIM:309801"	"linear skin defects with multiple congenital anomalies"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:46:13"	""	""	"16059943, 17033964, 17893649, 20301767, 24735900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HCCS0LinearSkin"	"2023-11-30"
"GENCC_000106-HGNC_13315-OMIM_300882-HP_0001417-GENCC_100002"	"HGNC:13315"	"HDAC8"	"MONDO:0010471"	"Cornelia de Lange syndrome 5"	"OMIM:300882"	"Cornelia de Lange syndrome 5"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:13315"	"HDAC8"	"OMIM:300882"	"Cornelia de Lange syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 08:02:47"	""	""	"19605684, 22885700, 24403048, 25075551, 26671848"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HDAC80CdLS"	"2023-11-30"
"GENCC_000106-HGNC_26361-OMIM_613925-HP_0000007-GENCC_100002"	"HGNC:26361"	"HEPACAM"	"MONDO:0013490"	"megalencephalic leukoencephalopathy with subcortical cysts 2A"	"OMIM:613925"	"Megalencephalic leukoencephalopathy with subcortical cysts 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26361"	"HEPACAM"	"OMIM:613925"	"megalencephalic leukoencephalopathy with subcortical cysts"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"21419380, 24202401"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HEPACAM0MLC"	"2023-11-30"
"GENCC_000106-HGNC_26361-OMIM_613926-HP_0000006-GENCC_100002"	"HGNC:26361"	"HEPACAM"	"MONDO:0013491"	"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability"	"OMIM:613926"	"Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26361"	"HEPACAM"	"OMIM:613926"	"megalencephalic leukoencephalopathy with subcortical cysts"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:21"	""	""	"21419380, 21624973, 24202401, 25044933"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HEPACAM0MLC0AD"	"2023-11-30"
"GENCC_000106-HGNC_4877-OMIM_182230-HP_0000007-GENCC_100002"	"HGNC:4877"	"HESX1"	"MONDO:0008428"	"septooptic dysplasia"	"OMIM:182230"	"Growth hormone deficiency with pituitary anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4877"	"HESX1"	"OMIM:182230"	"combined pituitary hormone deficiencies, genetic form"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:21"	""	""	"11136712, 11748154, 12519827, 15841484, 16940453, 17148560, 19093031, 19623216, 21325470, 9620767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HESX10SeptoopticDys"	"2023-11-30"
"GENCC_000106-HGNC_4877-OMIM_182230-HP_0000006-GENCC_100002"	"HGNC:4877"	"HESX1"	"MONDO:0008428"	"septooptic dysplasia"	"OMIM:182230"	"Growth hormone deficiency with pituitary anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4877"	"HESX1"	"OMIM:182230"	"combined pituitary hormone deficiencies, genetic form"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:21"	""	""	"11136712, 11748154, 12519827, 14557462, 16940453, 17148560, 19623216, 21325470, 21488242, 9620767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HESX10SeptoopticDys02"	"2023-11-30"
"GENCC_000106-HGNC_4886-OMIM_235200-HP_0000007-GENCC_100002"	"HGNC:4886"	"HFE"	"MONDO:0021001"	"hemochromatosis type 1"	"OMIM:235200"	"{HFE hemochromatosis, modifier of}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4886"	"HFE"	"OMIM:235200"	"hemochromatosis type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:12:24"	""	""	"20471131, 20800508, 27518069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HFE0HH"	"2023-11-30"
"GENCC_000106-HGNC_4893-OMIM_608265-HP_0000007-GENCC_100002"	"HGNC:4893"	"HGF"	"MONDO:0012003"	"autosomal recessive nonsyndromic hearing loss 39"	"OMIM:608265"	"Deafness, autosomal recessive 39"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4893"	"HGF"	"OMIM:608265"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"18564920, 19576567, 22903915, 249906, 251328, 26489027, 27610647, 281780, 28191890, 29924831, 30098700"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HGF0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4921-OMIM_616977-HP_0000006-GENCC_100002"	"HGNC:4921"	"HIVEP2"	"MONDO:0014858"	"intellectual disability, autosomal dominant 43"	"OMIM:616977"	"Intellectual developmental disorder, autosomal dominant 43"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4921"	"HIVEP2"	"OMIM:616977"	"intellectual disability, autosomal dominant 43"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 15:56:50"	""	""	"27003583"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HIVEP20ID"	"2023-11-30"
"GENCC_000106-HGNC_5013-OMIM_614034-HP_0000007-GENCC_100002"	"HGNC:5013"	"HMOX1"	"MONDO:0013536"	"heme oxygenase 1 deficiency"	"OMIM:614034"	"Heme oxygenase-1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5013"	"HMOX1"	"OMIM:614034"	"heme oxygenase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"21088618, 32587840, 33066778, 9884342"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMOX10HemeOx1"	"2023-11-30"
"GENCC_000106-HGNC_11630-OMIM_137920-HP_0000006-GENCC_100002"	"HGNC:11630"	"HNF1B"	"MONDO:0007669"	"renal cysts and diabetes syndrome"	"OMIM:137920"	"Renal cysts and diabetes syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11630"	"HNF1B"	"OMIM:137920"	"renal cysts and diabetes syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-13 17:26:53"	""	""	"11085914, 12148114, 12675839, 15068978, 15930087, 20378641, 35992134, 9398836"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNF1B0RCAD"	"2023-11-30"
"GENCC_000106-HGNC_5028-OMIM_616739-HP_0000007-GENCC_100002"	"HGNC:5028"	"HNMT"	"MONDO:0014759"	"intellectual disability, autosomal recessive 51"	"OMIM:616739"	"Intellectual developmental disorder, autosomal recessive 51"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5028"	"HNMT"	"OMIM:616739"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:10"	""	""	"26206890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNMT0ID"	"2023-11-30"
"GENCC_000106-HGNC_5048-OMIM_617391-HP_0000006-GENCC_100002"	"HGNC:5048"	"HNRNPU"	"MONDO:0033363"	"developmental and epileptic encephalopathy, 54"	"OMIM:617391"	"Developmental and epileptic encephalopathy 54"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5048"	"HNRNPU"	"OMIM:617391"	"developmental and epileptic encephalopathy, 54"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-09 13:09:55"	""	""	"22678713, 23934111, 24356988, 25356899, 27824329, 28283832, 28393272"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPU0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_25155-OMIM_613616-HP_0000007-GENCC_100002"	"HGNC:25155"	"HOGA1"	"MONDO:0013327"	"primary hyperoxaluria type 3"	"OMIM:613616"	"Hyperoxaluria, primary, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25155"	"HOGA1"	"OMIM:613616"	"primary hyperoxaluria type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 13:21:46"	""	""	"22391140, 22781098, 316514"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOGA10Hyperoxaluria"	"2023-11-30"
"GENCC_000106-HGNC_17513-OMIM_616707-HP_0000006-GENCC_100002"	"HGNC:17513"	"HOMER2"	"MONDO:0014740"	"autosomal dominant nonsyndromic hearing loss 68"	"OMIM:616707"	"?Deafness, autosomal dominant 68"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17513"	"HOMER2"	"OMIM:616707"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 23:01:21"	""	""	"25816005, 30047143"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOMER20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_5099-OMIM_601536-HP_0000007-GENCC_100002"	"HGNC:5099"	"HOXA1"	"MONDO:0011099"	"human HOXA1 syndromes"	"OMIM:601536"	"Athabaskan brainstem dysgenesis syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5099"	"HOXA1"	"OMIM:601536"	"Bosley-Salih-Alorainy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"16155570, 8287791, 20171203, 11466434"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXA10HOXA1rel"	"2023-11-30"
"GENCC_000106-HGNC_5101-OMIM_605432-HP_0000006-GENCC_100002"	"HGNC:5101"	"HOXA11"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"OMIM:605432"	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5101"	"HOXA11"	"OMIM:605432"	"radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:22"	""	""	"11101832"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXA110Radiouln"	"2023-11-30"
"GENCC_000106-HGNC_5103-OMIM_612290-HP_0000006-GENCC_100002"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"?Microtia, hearing impairment, and cleft palate (AR)"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"bilateral microtia-deafness-cleft palate syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-15 17:56:51"	""	""	"23775976, 26496426, 27503514, 31567444, 32649979"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXA20?Microti"	"2023-11-30"
"GENCC_000106-HGNC_5147-OMIM_276710-HP_0000007-GENCC_100002"	"HGNC:5147"	"HPD"	"MONDO:0010162"	"tyrosinemia type III"	"OMIM:276710"	"Tyrosinemia, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5147"	"HPD"	"OMIM:276710"	"tyrosinemia type III"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 02:31:25"	""	""	"10942115, 16602095, 23036342"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPD0Tyrosinemia"	"2023-11-30"
"GENCC_000106-HGNC_5154-OMIM_259100-HP_0000007-GENCC_100002"	"HGNC:5154"	"HPGD"	"MONDO:0024546"	"hypertrophic osteoarthropathy, primary, autosomal recessive, 1"	"OMIM:259100"	"Cranioosteoarthropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5154"	"HPGD"	"OMIM:259100"	"cranio-osteoarthropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-19 09:06:08"	""	""	"17551338, 18500342, 19568269, 24533558, 24816859, 250330"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPGD0HOA"	"2023-11-30"
"GENCC_000106-HGNC_5157-OMIM_300322-HP_0001417-GENCC_100002"	"HGNC:5157"	"HPRT1"	"MONDO:0010298"	"Lesch-Nyhan syndrome"	"OMIM:300322"	"Lesch-Nyhan syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:5157"	"HPRT1"	"OMIM:300322"	"Lesch-Nyhan syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-04 08:09:58"	""	""	"15571220, 17027311, 22157001"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPRT10LeschNuhan"	"2023-11-30"
"GENCC_000106-HGNC_18374-OMIM_236730-HP_0000007-GENCC_100002"	"HGNC:18374"	"HPSE2"	"MONDO:0009368"	"urofacial syndrome type 1"	"OMIM:236730"	"Urofacial syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18374"	"HPSE2"	"OMIM:236730"	"Ochoa syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:55:39"	""	""	"20560209, 20560210, 250432, 25510506, 27151922, 282872, 28965733"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPSE20Urofacia"	"2023-11-30"
"GENCC_000106-HGNC_5172-OMIM_209500-HP_0000007-GENCC_100002"	"HGNC:5172"	"HR"	"MONDO:0008847"	"atrichia with papular lesions"	"OMIM:209500"	"Atrichia with papular lesions"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5172"	"HR"	"OMIM:209500"	"atrichia with papular lesions"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"10205263, 12406339, 17869066, 18164595, 9736769"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HR0Atrichia"	"2023-11-30"
"GENCC_000106-HGNC_5172-OMIM_146550-HP_0000006-GENCC_100002"	"HGNC:5172"	"HR"	"MONDO:0100522"	"hypotrichosis 4"	"OMIM:146550"	"Hypotrichosis 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5172"	"HR"	"OMIM:146550"	"hypotrichosis 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:22"	""	""	"12459250, 19122663, 19897589, 20814945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HR0Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_5173-OMIM_218040-HP_0000006-GENCC_100002"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"OMIM:218040"	"Costello syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5173"	"HRAS"	"OMIM:218040"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-19 15:35:05"	""	""	"16170316"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HRAS0Costello"	"2023-11-30"
"GENCC_000106-HGNC_5181-OMIM_613116-HP_0000006-GENCC_100004"	"HGNC:5181"	"HRG"	"MONDO:0013143"	"hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"	"OMIM:613116"	"Thrombophilia 11 due to HRG deficiency"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5181"	"HRG"	"OMIM:613116"	"hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-01-08 14:20:08"	""	""	"10920255, 11057869, 29108964, 29296762, 9414276"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HRG0Thrombop"	"2023-11-30"
"GENCC_000106-HGNC_5208-OMIM_614662-HP_0000006-GENCC_100004"	"HGNC:5208"	"HSD11B1"	"MONDO:0013842"	"cortisone reductase deficiency 2"	"OMIM:614662"	"Cortisone reductase deficiency 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5208"	"HSD11B1"	"OMIM:614662"	"cortisone reductase deficiency 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:28"	""	""	"21325058, 9405715"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSD11B10Cortison"	"2023-11-30"
"GENCC_000106-HGNC_5213-OMIM_261515-HP_0000007-GENCC_100002"	"HGNC:5213"	"HSD17B4"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"OMIM:261515"	"D-bifunctional protein deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5213"	"HSD17B4"	"OMIM:261515"	"d-bifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:39:51"	""	""	"11810648, 16385454, 23181892, 23308274, 24553428, 24602372"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSD17B40Dbifunc"	"2023-11-30"
"GENCC_000106-HGNC_5226-OMIM_619245-HP_0000007-GENCC_100004"	"HGNC:5226"	"HSF2BP"	"MONDO:0030985"	"premature ovarian failure 19"	"OMIM:619245"	"Premature ovarian failure 19"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5226"	"HSF2BP"	"OMIM:619245"	"premature ovarian failure 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:53"	""	""	"32845237"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSF2BP0POI"	"2023-11-30"
"GENCC_000106-HGNC_5227-OMIM_116800-HP_0000006-GENCC_100002"	"HGNC:5227"	"HSF4"	"MONDO:0007290"	"cataract 5 multiple types"	"OMIM:116800"	"Cataract 5, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5227"	"HSF4"	"OMIM:116800"	"cataract 5 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 12:24:43"	""	""	"12089525, 16595169, 17611257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSF40CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_5244-OMIM_616854-HP_0000007-GENCC_100002"	"HGNC:5244"	"HSPA9"	"MONDO:0014801"	"even-plus syndrome"	"OMIM:616854"	"Even-plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5244"	"HSPA9"	"OMIM:616854"	"even-plus syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-09 13:32:03"	""	""	"2545851574, 1000350, 26598328, 30933555, 327894369, 32869452"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPA90Even-Plu"	"2023-11-30"
"GENCC_000106-HGNC_5248-OMIM_613376-HP_0000006-GENCC_100004"	"HGNC:5248"	"HSPB3"	"MONDO:0013243"	"neuronopathy, distal hereditary motor, type 2C"	"OMIM:613376"	"?Neuronopathy, distal hereditary motor, autosomal dominant 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5248"	"HSPB3"	"OMIM:613376"	"distal hereditary motor neuropathy type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-12 10:05:34"	""	""	"20142617, 28135719, 29341343, 29653220"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPB30HMN"	"2023-11-30"
"GENCC_000106-HGNC_5261-OMIM_612233-HP_0000007-GENCC_100002"	"HGNC:5261"	"HSPD1"	"MONDO:0012824"	"hypomyelinating leukodystrophy 4"	"OMIM:612233"	"Leukodystrophy, hypomyelinating, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5261"	"HSPD1"	"OMIM:612233"	"Pelizaeus-Merzbacher-like disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:48"	""	""	"18571142, 18571143, 19706612, 25957474, 27405012"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPD10HLD"	"2023-11-30"
"GENCC_000106-HGNC_5261-OMIM_605280-HP_0000006-GENCC_100002"	"HGNC:5261"	"HSPD1"	"MONDO:0011532"	"hereditary spastic paraplegia 13"	"OMIM:605280"	"Spastic paraplegia 13, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5261"	"HSPD1"	"OMIM:605280"	"hereditary spastic paraplegia 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:22"	""	""	"10677329, 11898127, 17420924, 18378094, 18400758, 23466696"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPD10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_9476-OMIM_616779-HP_0000006-GENCC_100002"	"HGNC:9476"	"HTRA1"	"MONDO:0014768"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"	"OMIM:616779"	"Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9476"	"HTRA1"	"OMIM:616779"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-26 16:34:55"	""	""	"26063658, 27164673, 29305662, 29895533"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HTRA10CADASIL"	"2023-11-30"
"GENCC_000106-HGNC_9476-OMIM_600142-HP_0000007-GENCC_100002"	"HGNC:9476"	"HTRA1"	"MONDO:0010829"	"CARASIL syndrome"	"OMIM:600142"	"CARASIL syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9476"	"HTRA1"	"OMIM:600142"	"CARASIL syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-16 21:09:40"	""	""	"19387015, 20437615, 25772074, 29101275"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HTRA10CARASIL"	"2023-11-30"
"GENCC_000106-HGNC_14348-OMIM_617248-HP_0000007-GENCC_100002"	"HGNC:14348"	"HTRA2"	"MONDO:0044723"	"3-methylglutaconic aciduria type 8"	"OMIM:617248"	"3-methylglutaconic aciduria, type VIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14348"	"HTRA2"	"OMIM:617248"	"3-methylglutaconic aciduria type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:19:06"	""	""	"25531304, 27208207, 27696117, 30114719"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HTRA203Methyl"	"2023-11-30"
"GENCC_000106-HGNC_4851-OMIM_143100-HP_0000006-GENCC_100002"	"HGNC:4851"	"HTT"	"MONDO:0007739"	"Huntington disease"	"OMIM:143100"	"Huntington disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4851"	"HTT"	"OMIM:143100"	"Huntington disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:13"	""	""	"11264541, 8401587, 8458085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HTT0Huntington"	"2023-11-30"
"GENCC_000106-HGNC_5320-OMIM_601492-HP_0000007-GENCC_100002"	"HGNC:5320"	"HYAL1"	"MONDO:0011093"	"mucopolysaccharidosis type 9"	"OMIM:601492"	"Mucopolysaccharidosis type IX"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5320"	"HYAL1"	"OMIM:601492"	"mucopolysaccharidosis type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"10339581, 18344557, 21559944"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HYAL10MPS0IX"	"2023-11-30"
"GENCC_000106-HGNC_29685-OMIM_616007-HP_0000007-GENCC_100002"	"HGNC:29685"	"IARS2"	"MONDO:0014455"	"cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"	"OMIM:616007"	"Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29685"	"IARS2"	"OMIM:616007"	"cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 13:17:27"	""	""	"25130867, 28328135, 30041933, 30419932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IARS20IARS2rel"	"2023-11-30"
"GENCC_000106-HGNC_21219-OMIM_612651-HP_0000007-GENCC_100002"	"HGNC:21219"	"CILK1"	"MONDO:0012980"	"endocrine-cerebro-osteodysplasia syndrome"	"OMIM:612651"	"Endocrine-cerebroosteodysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21219"	"CILK1"	"OMIM:612651"	"endocrine-cerebro-osteodysplasia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-17 14:18:52"	""	""	"19185282, 251352, 27069622, 27466187, 29098359"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ICK0ECO"	"2023-11-30"
"GENCC_000106-HGNC_5351-OMIM_607594-HP_0000007-GENCC_100002"	"HGNC:5351"	"ICOS"	"MONDO:0011864"	"immunodeficiency, common variable, 1"	"OMIM:607594"	"Immunodeficiency, common variable, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5351"	"ICOS"	"OMIM:607594"	"immunodeficiency, common variable, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-21 21:27:40"	""	""	"11343122, 12577056, 16982935, 19380800, 25678089, 26399252"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ICOS0CVID"	"2023-11-30"
"GENCC_000106-HGNC_5389-OMIM_309900-HP_0001417-GENCC_100002"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"OMIM:309900"	"Mucopolysaccharidosis II"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:5389"	"IDS"	"OMIM:309900"	"mucopolysaccharidosis type 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-17 14:24:58"	""	""	"1639384, 17876721, 20104590, 30639582, 8940265, 9875019"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IDS0MPSII"	"2023-11-30"
"GENCC_000106-HGNC_5433-OMIM_616669-HP_0000007-GENCC_100002"	"HGNC:5433"	"IFNAR2"	"MONDO:0014727"	"immunodeficiency 45"	"OMIM:616669"	"Immunodeficiency 45"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5433"	"IFNAR2"	"OMIM:616669"	"immunodeficiency 45"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"26424569, 30473701, 33193576, 33225392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFNAR20IFNAR2def"	"2023-11-30"
"GENCC_000106-HGNC_5439-OMIM_209950-HP_0000007-GENCC_100002"	"HGNC:5439"	"IFNGR1"	"MONDO:0008856"	"immunodeficiency 27A"	"OMIM:209950"	"Immunodeficiency 27A, mycobacteriosis, AR"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5439"	"IFNGR1"	"OMIM:209950"	"autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-09 13:40:30"	""	""	"10811850, 15589309, 16602008, 23800860, 8960473, 9806040"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFNGR10MSMD01"	"2023-11-30"
"GENCC_000106-HGNC_5439-OMIM_615978-HP_0000006-GENCC_100002"	"HGNC:5439"	"IFNGR1"	"MONDO:0014429"	"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	"OMIM:615978"	"Immunodeficiency 27B, mycobacteriosis, AD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5439"	"IFNGR1"	"OMIM:615978"	"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-27 12:49:59"	""	""	"10192386, 11598613, 15589309"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFNGR10MSMD02"	"2023-11-30"
"GENCC_000106-HGNC_5464-OMIM_608747-HP_0000007-GENCC_100002"	"HGNC:5464"	"IGF1"	"MONDO:0012110"	"growth delay due to insulin-like growth factor type 1 deficiency"	"OMIM:608747"	"Insulin-like growth factor I deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5464"	"IGF1"	"OMIM:608747"	"growth delay due to insulin-like growth factor type 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:54"	""	""	"15769976, 19773405, 20668042, 22832530, 31230720, 8857020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGF10GrowthRe"	"2023-11-30"
"GENCC_000106-HGNC_5465-OMIM_270450-HP_0000007-GENCC_100002"	"HGNC:5465"	"IGF1R"	"MONDO:0010038"	"growth delay due to insulin-like growth factor I resistance"	"OMIM:270450"	"Insulin-like growth factor I, resistance to"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5465"	"IGF1R"	"OMIM:270450"	"growth delay due to insulin-like growth factor I resistance"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:24:00"	""	""	"14657428, 22130793, 23045302, 23428682, 26252249, 30053089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGF1R0IGF1R"	"2023-11-30"
"GENCC_000106-HGNC_5465-OMIM_270450-HP_0000006-GENCC_100002"	"HGNC:5465"	"IGF1R"	"MONDO:0010038"	"growth delay due to insulin-like growth factor I resistance"	"OMIM:270450"	"Insulin-like growth factor I, resistance to"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5465"	"IGF1R"	"OMIM:270450"	"growth delay due to insulin-like growth factor I resistance"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:24:00"	""	""	"14657428, 19240156, 20962017, 21811077, 23771920, 27625849, 28395282, 8402901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGF1R0IGF1RGrowthRe"	"2023-11-30"
"GENCC_000106-HGNC_5476-OMIM_614224-HP_0000007-GENCC_100004"	"HGNC:5476"	"IGFBP7"	"MONDO:0013640"	"familial retinal arterial macroaneurysm"	"OMIM:614224"	"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5476"	"IGFBP7"	"OMIM:614224"	"familial retinal arterial macroaneurysm"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"21835307"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGFBP70RetinalA"	"2023-11-30"
"GENCC_000106-HGNC_5541-OMIM_601495-HP_0000007-GENCC_100002"	"HGNC:5541"	"IGHM"	"MONDO:0020729"	"autosomal recessive agammaglobulinemia 1"	"OMIM:601495"	"Agammaglobulinemia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5541"	"IGHM"	"OMIM:601495"	"autosomal recessive agammaglobulinemia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"12370281, 17709424, 601495, 8890099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGHM0Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_5956-OMIM_607778-HP_0000007-GENCC_100002"	"HGNC:5956"	"IHH"	"MONDO:0011907"	"acrocapitofemoral dysplasia"	"OMIM:607778"	"Acrocapitofemoral dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5956"	"IHH"	"OMIM:607778"	"acrocapitofemoral dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-22 07:04:17"	""	""	"12566523, 12632327, 19277064, 28454995, 29620724"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IHH0AcroCapFemDys"	"2023-11-30"
"GENCC_000106-HGNC_5956-OMIM_112500-HP_0000006-GENCC_100002"	"HGNC:5956"	"IHH"	"MONDO:0007215"	"brachydactyly type A1"	"OMIM:112500"	"Brachydactyly, type A1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5956"	"IHH"	"OMIM:112500"	"brachydactyly type A1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-16 18:09:03"	""	""	"10465785, 11455389, 12384778, 19252479, 19277064, 21077205, 21537345, 28794911, 29155992, 32311039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IHH0Brachydactyly"	"2023-11-30"
"GENCC_000106-HGNC_5960-OMIM_615592-HP_0000007-GENCC_100002"	"HGNC:5960"	"IKBKB"	"MONDO:0014267"	"severe combined immunodeficiency due to IKK2 deficiency"	"OMIM:615592"	"Immunodeficiency 15B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5960"	"IKBKB"	"OMIM:615592"	"severe combined immunodeficiency due to IKK2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 16:27:52"	""	""	"24369075, 24679846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IKBKB0CID"	"2023-11-30"
"GENCC_000106-HGNC_5960-OMIM_618204-HP_0000006-GENCC_100002"	"HGNC:5960"	"IKBKB"	"MONDO:0032599"	"immunodeficiency 15a"	"OMIM:618204"	"Immunodeficiency 15A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5960"	"IKBKB"	"OMIM:618204"	"immunodeficiency 15a"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-14 13:47:40"	""	""	"30337470, 32554083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IKBKB0EDA-ID"	"2023-11-30"
"GENCC_000106-HGNC_14283-OMIM_619130-HP_0000006-GENCC_100002"	"HGNC:14283"	"IKZF5"	"MONDO:0030867"	"thrombocytopenia 7"	"OMIM:619130"	"Thrombocytopenia, autosomal dominant, 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14283"	"IKZF5"	"OMIM:619130"	"thrombocytopenia 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:22"	""	""	"22674643, 31217188, 32419556"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IKZF50Thrombocytopen"	"2023-11-30"
"GENCC_000106-HGNC_5964-OMIM_613148-HP_0000007-GENCC_100002"	"HGNC:5964"	"IL10RA"	"MONDO:0013153"	"inflammatory bowel disease 28"	"OMIM:613148"	"Inflammatory bowel disease 28, early onset, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5964"	"IL10RA"	"OMIM:613148"	"inflammatory bowel disease 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-30 10:03:01"	""	""	"22550014, 24216686, 24507158, 24813381, 25058236, 25373860, 26822028"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL10RA0IBD"	"2023-11-30"
"GENCC_000106-HGNC_17616-OMIM_615267-HP_0000006-GENCC_100004"	"HGNC:17616"	"IL17RD"	"MONDO:0014103"	"hypogonadotropic hypogonadism 18 with or without anosmia"	"OMIM:615267"	"Hypogonadotropic hypogonadism 18 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17616"	"IL17RD"	"OMIM:615267"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-14 14:57:39"	""	""	"23643382, 27502037, 29419413, 30098700, 31200363"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL17RD0Hypogona02"	"2023-11-30"
"GENCC_000106-HGNC_6000-OMIM_612852-HP_0000007-GENCC_100002"	"HGNC:6000"	"IL1RN"	"MONDO:0013021"	"sterile multifocal osteomyelitis with periostitis and pustulosis"	"OMIM:612852"	"Interleukin 1 receptor antagonist deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6000"	"IL1RN"	"OMIM:612852"	"sterile multifocal osteomyelitis with periostitis and pustulosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 23:15:53"	""	""	"15578092, 19494218, 21792839, 22940634, 23396662, 26100510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL1RN0Interleukin1"	"2023-11-30"
"GENCC_000106-HGNC_6006-OMIM_615207-HP_0000007-GENCC_100002"	"HGNC:6006"	"IL21R"	"MONDO:0014082"	"cryptosporidiosis-chronic cholangitis-liver disease syndrome"	"OMIM:615207"	"Immunodeficiency 56"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6006"	"IL21R"	"OMIM:615207"	"cryptosporidiosis-chronic cholangitis-liver disease syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"23440042, 25321844, 25769540"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL21R0CID"	"2023-11-30"
"GENCC_000106-HGNC_6008-OMIM_606367-HP_0000007-GENCC_100002"	"HGNC:6008"	"IL2RA"	"MONDO:0011664"	"immunodeficiency due to CD25 deficiency"	"OMIM:606367"	"Immunodeficiency 41 with lymphoproliferation and autoimmunity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6008"	"IL2RA"	"OMIM:606367"	"immunodeficiency due to CD25 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-23 09:43:28"	""	""	"17196245, 23416241, 24116927, 30742970, 31605764, 9096364"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL2RA0CD25def"	"2023-11-30"
"GENCC_000106-HGNC_6009-OMIM_618495-HP_0000007-GENCC_100002"	"HGNC:6009"	"IL2RB"	"MONDO:0032782"	"immunodeficiency 63 with lymphoproliferation and autoimmunity"	"OMIM:618495"	"Immunodeficiency 63 with lymphoproliferation and autoimmunity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6009"	"IL2RB"	"OMIM:618495"	"immunodeficiency 63 with lymphoproliferation and autoimmunity"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:13"	""	""	"3515625, 31040184, 31040185"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL2RB0CD122def"	"2023-11-30"
"GENCC_000106-HGNC_6021-OMIM_618523-HP_0000007-GENCC_100002"	"HGNC:6021"	"IL6ST"	"MONDO:0032796"	"hyper-IgE recurrent infection syndrome 4, autosomal recessive"	"OMIM:618523"	"Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6021"	"IL6ST"	"OMIM:618523"	"hyper-IgE recurrent infection syndrome 4, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-28 09:12:43"	""	""	"28747427, 30309848, 33771552, 8552649"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL6ST0HyperIgEinf02"	"2023-11-30"
"GENCC_000106-HGNC_6050-OMIM_617323-HP_0000007-GENCC_100004"	"HGNC:6050"	"IMPA1"	"MONDO:0015020"	"intellectual disability, autosomal recessive 59"	"OMIM:617323"	"Intellectual developmental disorder, autosomal recessive 59"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6050"	"IMPA1"	"OMIM:617323"	"intellectual disability, autosomal recessive 59"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-28 09:32:29"	""	""	"26416544, 28397838, 30616629, 32839513"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IMPA10ID"	"2023-11-30"
"GENCC_000106-HGNC_18362-OMIM_613581-HP_0000007-GENCC_100002"	"HGNC:18362"	"IMPG2"	"MONDO:0013314"	"retinitis pigmentosa 56"	"OMIM:613581"	"Retinitis pigmentosa 56"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18362"	"IMPG2"	"OMIM:613581"	"retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 09:49:42"	""	""	"11726612, 20673862, 22334370, 24339724, 24876279, 28041643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IMPG20RP"	"2023-11-30"
"GENCC_000106-HGNC_33882-OMIM_617404-HP_0000007-GENCC_100002"	"HGNC:33882"	"INPP5K"	"MONDO:0024607"	"congenital muscular dystrophy with cataracts and intellectual disability"	"OMIM:617404"	"Muscular dystrophy, congenital, with cataracts and intellectual disability"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33882"	"INPP5K"	"OMIM:617404"	"congenital muscular dystrophy with cataracts and intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-02 09:15:41"	""	""	"28190456, 28190459"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INPP5K0INPP5Krel"	"2023-11-30"
"GENCC_000106-HGNC_6081-OMIM_616214-HP_0000006-GENCC_100004"	"HGNC:6081"	"INS"	"MONDO:0014535"	"hyperproinsulinemia"	"OMIM:616214"	"Hyperproinsulinemia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6081"	"INS"	"OMIM:616214"	"hyperproinsulinemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-01 23:10:56"	""	""	"20034470, 20938745, 20948967, 2196279, 288074, 3470784, 3511099, 3537011, 381941, 4019786, 6261753, 6339950, 6368587, 8636380, 9667398"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INS0Hyperproinsul"	"2023-11-30"
"GENCC_000106-HGNC_6091-OMIM_262190-HP_0000007-GENCC_100002"	"HGNC:6091"	"INSR"	"MONDO:0009874"	"Rabson-Mendenhall syndrome"	"OMIM:262190"	"Rabson-Mendenhall syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6091"	"INSR"	"OMIM:262190"	"Rabson-Mendenhall syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-19 20:51:15"	""	""	"12023989, 26160152"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INSR0RMS"	"2023-11-30"
"GENCC_000106-HGNC_24555-OMIM_618571-HP_0000007-GENCC_100002"	"HGNC:24555"	"INTS1"	"MONDO:0032817"	"neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"	"OMIM:618571"	"Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24555"	"INTS1"	"OMIM:618571"	"neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-23 12:07:11"	""	""	"28542170, 30622326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INTS10INST1rel"	"2023-11-30"
"GENCC_000106-HGNC_17870-OMIM_602088-HP_0000007-GENCC_100002"	"HGNC:17870"	"INVS"	"MONDO:0011190"	"nephronophthisis 2"	"OMIM:602088"	"Nephronophthisis 2, infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17870"	"INVS"	"OMIM:602088"	"nephronophthisis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:29:00"	""	""	"12872123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INVS0Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_28949-OMIM_609254-HP_0000007-GENCC_100002"	"HGNC:28949"	"IQCB1"	"MONDO:0012225"	"Senior-Loken syndrome 5"	"OMIM:609254"	"Senior-Loken syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28949"	"IQCB1"	"OMIM:609254"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-13 20:28:19"	""	""	"15723066, 20881296, 21220633, 23559409"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IQCB10SeniorLoken"	"2023-11-30"
"GENCC_000106-HGNC_29112-OMIM_618687-HP_0000007-GENCC_100002"	"HGNC:29112"	"IQSEC1"	"MONDO:0032870"	"intellectual developmental disorder with short stature and behavioral abnormalities"	"OMIM:618687"	"Intellectual developmental disorder with short stature and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29112"	"IQSEC1"	"OMIM:618687"	"intellectual developmental disorder with short stature and behavioral abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-04 09:37:31"	""	""	"28135719, 28191890, 28454995, 31607425"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IQSEC10ID"	"2023-11-30"
"GENCC_000106-HGNC_29059-OMIM_309530-HP_0001417-GENCC_100002"	"HGNC:29059"	"IQSEC2"	"MONDO:0010656"	"intellectual disability, X-linked 1"	"OMIM:309530"	"Intellectual developmental disorder, X-linked 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:29059"	"IQSEC2"	"OMIM:309530"	"intellectual disability, X-linked 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 22:13:41"	""	""	"21686261, 24306141, 25167861, 26544041, 26793055, 27665735, 300522, 30206421"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IQSEC20ID"	"2023-11-30"
"GENCC_000106-HGNC_17967-OMIM_607676-HP_0000007-GENCC_100002"	"HGNC:17967"	"IRAK4"	"MONDO:0011888"	"immunodeficiency 67"	"OMIM:607676"	"Immunodeficiency 67"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17967"	"IRAK4"	"OMIM:607676"	"immunodeficiency 67"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-02 19:29:11"	""	""	"17893200, 21057262, 24316379, 610799"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRAK40IRAK4def"	"2023-11-30"
"GENCC_000106-HGNC_6115-OMIM_618451-HP_0000007-GENCC_100002"	"HGNC:6115"	"IREB2"	"MONDO:0032758"	"neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia"	"OMIM:618451"	"Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6115"	"IREB2"	"OMIM:618451"	"neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"11175792, 30915432, 31243445"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IREB20IREB2 NDS"	"2023-11-30"
"GENCC_000106-HGNC_14282-OMIM_618088-HP_0000006-GENCC_100002"	"HGNC:14282"	"IRF2BPL"	"MONDO:0060759"	"neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	"OMIM:618088"	"Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14282"	"IRF2BPL"	"OMIM:618088"	"neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 17:37:58"	""	""	"30057031, 30166628"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF2BPL0IRF2BPLrel"	"2023-11-30"
"GENCC_000106-HGNC_6121-OMIM_119500-HP_0000006-GENCC_100002"	"HGNC:6121"	"IRF6"	"MONDO:0007334"	"autosomal dominant popliteal pterygium syndrome"	"OMIM:119500"	"Popliteal pterygium syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6121"	"IRF6"	"OMIM:119500"	"popliteal pterygium syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 17:15:26"	""	""	"12219090, 19282774, 23154523, 23949966, 4019732, 6928118, 7395906"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF60PPS"	"2023-11-30"
"GENCC_000106-HGNC_6121-OMIM_119300-HP_0000006-GENCC_100002"	"HGNC:6121"	"IRF6"	"MONDO:0007333"	"van der Woude syndrome 1"	"OMIM:119300"	"van der Woude syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6121"	"IRF6"	"OMIM:119300"	"van der Woude syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-21 20:56:18"	""	""	"12219090, 19282774, 23154523, 23949966, 30593107, 4019732, 6928118, 7395906"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF60vanDerWoude"	"2023-11-30"
"GENCC_000106-HGNC_6122-OMIM_616345-HP_0000007-GENCC_100004"	"HGNC:6122"	"IRF7"	"MONDO:0014597"	"immunodeficiency 39"	"OMIM:616345"	"?Immunodeficiency 39"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6122"	"IRF7"	"OMIM:616345"	"immunodeficiency 39"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-11-11 13:06:43"	""	""	"25814066, 31172279, 32972995, 33225392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF70IRF7def"	"2023-11-30"
"GENCC_000106-HGNC_5358-OMIM_614893-HP_0000006-GENCC_100002"	"HGNC:5358"	"IRF8"	"MONDO:0013957"	"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"	"OMIM:614893"	"Immunodeficiency 32A, mycobacteriosis, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5358"	"IRF8"	"OMIM:614893"	"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:23"	""	""	"21524210"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF80MSMD02"	"2023-11-30"
"GENCC_000106-HGNC_6128-OMIM_301035-HP_0001417-GENCC_100002"	"HGNC:6128"	"IRS4"	"MONDO:0026732"	"hypothyroidism, congenital, nongoitrous, 9"	"OMIM:301035"	"Hypothyroidism, congenital, nongoitrous, 9"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:6128"	"IRS4"	"OMIM:301035"	"hypothyroidism, congenital, nongoitrous, 9"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:13"	""	""	"30061370"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRS40Hypothy"	"2023-11-30"
"GENCC_000106-HGNC_13890-OMIM_613385-HP_0000007-GENCC_100002"	"HGNC:13890"	"ITCH"	"MONDO:0013245"	"syndromic multisystem autoimmune disease due to ITCH deficiency"	"OMIM:613385"	"Autoimmune disease, multisystem, with facial dysmorphism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13890"	"ITCH"	"OMIM:613385"	"syndromic multisystem autoimmune disease due to ITCH deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-10 13:33:28"	""	""	"17095521, 20170897"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITCH0ITCHdef"	"2023-11-30"
"GENCC_000106-HGNC_6137-OMIM_614200-HP_0000006-GENCC_100002"	"HGNC:6137"	"ITGA2"	"MONDO:0013622"	"platelet-type bleeding disorder 9"	"OMIM:614200"	"Bleeding disorder, platelet-type, 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6137"	"ITGA2"	"OMIM:614200"	"bleeding diathesis due to a collagen receptor defect"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:23"	""	""	"19500323, 20883258, 21332723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGA20?Glycopr"	"2023-11-30"
"GENCC_000106-HGNC_6138-OMIM_273800-HP_0000007-GENCC_100002"	"HGNC:6138"	"ITGA2B"	"MONDO:0031332"	"Glanzmann thrombasthenia 1"	"OMIM:273800"	"Glanzmann thrombasthenia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6138"	"ITGA2B"	"OMIM:273800"	"Glanzmann thrombasthenia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-19 06:54:54"	""	""	"21917754, 273800"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGA2B0Glanzmann"	"2023-11-30"
"GENCC_000106-HGNC_6143-OMIM_613204-HP_0000007-GENCC_100002"	"HGNC:6143"	"ITGA7"	"MONDO:0013177"	"congenital muscular dystrophy due to integrin alpha-7 deficiency"	"OMIM:613204"	"Muscular dystrophy, congenital, due to ITGA7 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6143"	"ITGA7"	"OMIM:613204"	"congenital muscular dystrophy due to integrin alpha-7 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-28 11:43:16"	""	""	"23800289, 9590299"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGA70CMD"	"2023-11-30"
"GENCC_000106-HGNC_6156-OMIM_619267-HP_0000007-GENCC_100002"	"HGNC:6156"	"ITGB3"	"MONDO:0031009"	"Glanzmann thrombasthenia 2"	"OMIM:619267"	"Glanzmann thrombasthenia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6156"	"ITGB3"	"OMIM:619267"	"Glanzmann thrombasthenia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-23 22:12:11"	""	""	"21917754, 273800"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGB30Glanzmann"	"2023-11-30"
"GENCC_000106-HGNC_6156-OMIM_619271-HP_0000006-GENCC_100002"	"HGNC:6156"	"ITGB3"	"MONDO:0030996"	"bleeding disorder, platelet-type, 24"	"OMIM:619271"	"Bleeding disorder, platelet-type, 24, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6156"	"ITGB3"	"OMIM:619271"	"bleeding disorder, platelet-type, 24"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-02 07:24:41"	""	""	"19336737, 23253071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGB30Macroth"	"2023-11-30"
"GENCC_000106-HGNC_6161-OMIM_616221-HP_0000007-GENCC_100002"	"HGNC:6161"	"ITGB6"	"MONDO:0014540"	"amelogenesis imperfecta type 1H"	"OMIM:616221"	"Amelogenesis imperfecta, type IH"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6161"	"ITGB6"	"OMIM:616221"	"amelogenesis imperfecta type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"23264742, 24305999, 24319098, 25431241"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGB60AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_6180-OMIM_206700-HP_0000007-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"OMIM:206700"	"Gillespie syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6180"	"ITPR1"	"OMIM:206700"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 14:33:43"	""	""	"27108797, 29169895, 8538767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITPR10Gillespie"	"2023-11-30"
"GENCC_000106-HGNC_6180-OMIM_206700-HP_0000006-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"OMIM:206700"	"Gillespie syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6180"	"ITPR1"	"OMIM:206700"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 14:33:43"	""	""	"27108797, 27108798"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITPR10Gilllespie0AD"	"2023-11-30"
"GENCC_000106-HGNC_16951-OMIM_618969-HP_0000006-GENCC_100004"	"HGNC:16951"	"IVNS1ABP"	"MONDO:0033542"	"immunodeficiency 70"	"OMIM:618969"	"Immunodeficiency 70"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16951"	"IVNS1ABP"	"OMIM:618969"	"immunodeficiency 70"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-17 14:24:22"	""	""	"32499645"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IVNS1ABP0IVNS1ABPrel"	"2023-11-30"
"GENCC_000106-HGNC_6193-OMIM_600802-HP_0000007-GENCC_100002"	"HGNC:6193"	"JAK3"	"MONDO:0010938"	"T-B+ severe combined immunodeficiency due to JAK3 deficiency"	"OMIM:600802"	"Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6193"	"JAK3"	"OMIM:600802"	"T-B+ severe combined immunodeficiency due to JAK3 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 22:04:26"	""	""	"11668621, 7481768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAK30SCID"	"2023-11-30"
"GENCC_000106-HGNC_6207-OMIM_611528-HP_0000006-GENCC_100002"	"HGNC:6207"	"JUP"	"MONDO:0012684"	"arrhythmogenic right ventricular dysplasia 12"	"OMIM:611528"	"?Arrhythmogenic right ventricular dysplasia 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6207"	"JUP"	"OMIM:611528"	"familial isolated arrhythmogenic right ventricular dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:23"	""	""	"10902626"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JUP0ArrhythCardiomy"	"2023-11-30"
"GENCC_000106-HGNC_6207-OMIM_601214-HP_0000007-GENCC_100002"	"HGNC:6207"	"JUP"	"MONDO:0011017"	"Naxos disease"	"OMIM:601214"	"Naxos disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6207"	"JUP"	"OMIM:601214"	"Naxos disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-23 09:42:13"	""	""	"10902626, 20130592, 21320868, 27037756, 28098346, 29173316"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JUP0Naxos"	"2023-11-30"
"GENCC_000106-HGNC_5275-OMIM_619103-HP_0000006-GENCC_100002"	"HGNC:5275"	"KAT5"	"MONDO:0030852"	"neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities"	"OMIM:619103"	"Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5275"	"KAT5"	"OMIM:619103"	"neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-23 08:28:25"	""	""	"28213671, 32822602"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KAT50KAT5rel"	"2023-11-30"
"GENCC_000106-HGNC_17582-OMIM_606170-HP_0000006-GENCC_100002"	"HGNC:17582"	"KAT6B"	"MONDO:0011640"	"genitopatellar syndrome"	"OMIM:606170"	"Genitopatellar syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17582"	"KAT6B"	"OMIM:606170"	"genitopatellar syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 20:37:46"	""	""	"22265014, 22265017, 23436491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KAT6B0Genitopatellar"	"2023-11-30"
"GENCC_000106-HGNC_17582-OMIM_603736-HP_0000006-GENCC_100002"	"HGNC:17582"	"KAT6B"	"MONDO:0011365"	"blepharophimosis - intellectual disability syndrome, SBBYS type"	"OMIM:603736"	"SBBYSS syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17582"	"KAT6B"	"OMIM:603736"	"blepharophimosis - intellectual disability syndrome, SBBYS type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-06 18:03:08"	""	""	"22077973, 23436491, 25424711, 28426343, 29226580"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KAT6B0SBBYSS"	"2023-11-30"
"GENCC_000106-HGNC_17933-OMIM_618974-HP_0000006-GENCC_100002"	"HGNC:17933"	"KAT8"	"MONDO:0033547"	"Li-Ghorbani-Weisz-Hubshman syndrome"	"OMIM:618974"	"Li-Ghorgani-Weisz-Hubshman syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17933"	"KAT8"	"OMIM:618974"	"Li-Ghorbani-Weisz-Hubshman syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:23"	""	""	"28506985, 29777097, 31794431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KAT80KAT8rel"	"2023-11-30"
"GENCC_000106-HGNC_37227-OMIM_609273-HP_0000006-GENCC_100002"	"HGNC:37227"	"KBTBD13"	"MONDO:0012237"	"nemaline myopathy 6"	"OMIM:609273"	"Nemaline myopathy 6, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:37227"	"KBTBD13"	"OMIM:609273"	"childhood-onset nemaline myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-10 08:48:15"	""	""	"11731279, 20301465, 21104864, 21109227, 26019235, 28403181, 30208948, 31127727, 31828823, 32222963, 33742414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KBTBD130NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_6224-OMIM_612240-HP_0000006-GENCC_100004"	"HGNC:6224"	"KCNA5"	"MONDO:0012828"	"atrial fibrillation, familial, 7"	"OMIM:612240"	"Atrial fibrillation, familial, 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6224"	"KCNA5"	"OMIM:612240"	"familial atrial fibrillation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-11 07:27:48"	""	""	"16772329, 17266934, 19343045, 20638934, 23264583, 26129877, 29247119, 32721895"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNA50Afib"	"2023-11-30"
"GENCC_000106-HGNC_6240-OMIM_612347-HP_0000007-GENCC_100002"	"HGNC:6240"	"KCNE1"	"MONDO:0012871"	"Jervell and Lange-Nielsen syndrome 2"	"OMIM:612347"	"Jervell and Lange-Nielsen syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6240"	"KCNE1"	"OMIM:612347"	"familial long QT syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-14 09:40:34"	""	""	"16461811, 19862833, 22539601"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNE10JervellLange"	"2023-11-30"
"GENCC_000106-HGNC_6243-OMIM_613119-HP_0000006-GENCC_100004"	"HGNC:6243"	"KCNE3"	"MONDO:0013145"	"Brugada syndrome 6"	"OMIM:613119"	"?Brugada syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6243"	"KCNE3"	"OMIM:613119"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:28"	""	""	"18209471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNE30related0Afib"	"2023-11-30"
"GENCC_000106-HGNC_6256-OMIM_612780-HP_0000007-GENCC_100002"	"HGNC:6256"	"KCNJ10"	"MONDO:0013005"	"EAST syndrome"	"OMIM:612780"	"SESAME syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6256"	"KCNJ10"	"OMIM:612780"	"EAST syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-19 08:03:51"	""	""	"11466414, 19289823"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ100SESAMES"	"2023-11-30"
"GENCC_000106-HGNC_6257-OMIM_601820-HP_0000007-GENCC_100002"	"HGNC:6257"	"KCNJ11"	"MONDO:0011153"	"hyperinsulinemic hypoglycemia, familial, 2"	"OMIM:601820"	"Hyperinsulinemic hypoglycemia, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6257"	"KCNJ11"	"OMIM:601820"	"hyperinsulinemic hypoglycemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-26 21:01:39"	""	""	"10761930, 11375491, 15579781, 18767144, 20980454, 22308858, 23345197, 24383515, 9356020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ110HIHfamilial"	"2023-11-30"
"GENCC_000106-HGNC_6259-OMIM_614186-HP_0000007-GENCC_100002"	"HGNC:6259"	"KCNJ13"	"MONDO:0013613"	"Leber congenital amaurosis 16"	"OMIM:614186"	"Leber congenital amaurosis 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6259"	"KCNJ13"	"OMIM:614186"	"Leber congenital amaurosis 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"21763485, 25475713, 25666713, 25921210, 26402555, 27203561"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ130Leber"	"2023-11-30"
"GENCC_000106-HGNC_6259-OMIM_193230-HP_0000006-GENCC_100002"	"HGNC:6259"	"KCNJ13"	"MONDO:0008663"	"snowflake vitreoretinal degeneration"	"OMIM:193230"	"Snowflake vitreoretinal degeneration"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6259"	"KCNJ13"	"OMIM:193230"	"snowflake vitreoretinal degeneration"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:23"	""	""	"18179896, 23255580, 23977131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ130Snowflake"	"2023-11-30"
"GENCC_000106-HGNC_7154-OMIM_617017-HP_0000007-GENCC_100002"	"HGNC:7154"	"MME"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"OMIM:617017"	"Charcot-Marie-Tooth disease, axonal, type 2T"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7154"	"MME"	"OMIM:617017"	"Charcot-Marie-Tooth disease type 2T"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:53:24"	""	""	"15464186, 26991897, 27588448, 30415211, 33144514"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MME0CMT"	"2023-11-30"
"GENCC_000106-HGNC_7159-OMIM_602111-HP_0000006-GENCC_100002"	"HGNC:7159"	"MMP13"	"MONDO:0011198"	"spondyloepimetaphyseal dysplasia, Missouri type"	"OMIM:602111"	"Metaphyseal anadysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7159"	"MMP13"	"OMIM:602111"	"metaphyseal anadysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:27"	""	""	"16167086, 19615667"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMP130MetaphasealDys"	"2023-11-30"
"GENCC_000106-HGNC_29636-OMIM_618948-HP_0000007-GENCC_100002"	"HGNC:29636"	"MNS1"	"MONDO:0030070"	"heterotaxy, visceral, 9, autosomal, with male infertility"	"OMIM:618948"	"Heterotaxy, visceral, 9, autosomal, with male infertility"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29636"	"MNS1"	"OMIM:618948"	"heterotaxy, visceral, 9, autosomal, with male infertility"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-17 13:49:52"	""	""	"22396656, 30148830, 31534215"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MNS10MNS1rel"	"2023-11-30"
"GENCC_000106-HGNC_4979-OMIM_176450-HP_0000006-GENCC_100002"	"HGNC:4979"	"MNX1"	"MONDO:0008305"	"Currarino triad"	"OMIM:176450"	"Currarino syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4979"	"MNX1"	"OMIM:176450"	"Currarino triad"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-23 14:08:02"	""	""	"10631160, 10749657, 16254195, 24095820"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MNX10Currarin"	"2023-11-30"
"GENCC_000106-HGNC_7190-OMIM_252150-HP_0000007-GENCC_100002"	"HGNC:7190"	"MOCS1"	"MONDO:0009643"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"	"OMIM:252150"	"Molybdenum cofactor deficiency A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7190"	"MOCS1"	"OMIM:252150"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-26 08:58:49"	""	""	"12471057, 12754701, 16021469, 252150, 25764214, 9921896"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MOCS10MolybdCofacDef"	"2023-11-30"
"GENCC_000106-HGNC_7217-OMIM_601977-HP_0000006-GENCC_100002"	"HGNC:7217"	"MPL"	"MONDO:0011173"	"thrombocythemia 2"	"OMIM:601977"	"Thrombocythemia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7217"	"MPL"	"OMIM:601977"	"familial thrombocytosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:18"	""	""	"19483125, 23351976"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPL0Thrombocythemia"	"2023-11-30"
"GENCC_000106-HGNC_3496-OMIM_618145-HP_0000007-GENCC_100002"	"HGNC:3496"	"MPZL2"	"MONDO:0029142"	"hearing loss, autosomal recessive 111"	"OMIM:618145"	"Deafness, autosomal recessive 111"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3496"	"MPZL2"	"OMIM:618145"	"hearing loss, autosomal recessive 111"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-24 21:21:59"	""	""	"29961571, 29982980, 32203226"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPZL20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_7227-OMIM_618499-HP_0000006-GENCC_100002"	"HGNC:7227"	"MRAS"	"MONDO:0032786"	"Noonan syndrome 11"	"OMIM:618499"	"Noonan syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7227"	"MRAS"	"OMIM:618499"	"Noonan syndrome 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 16:56:05"	""	""	"28289718, 31108500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRAS0Noonan"	"2023-11-30"
"GENCC_000106-HGNC_14048-OMIM_610498-HP_0000007-GENCC_100004"	"HGNC:14048"	"MRPS16"	"MONDO:0012510"	"combined oxidative phosphorylation defect type 2"	"OMIM:610498"	"Combined oxidative phosphorylation deficiency 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14048"	"MRPS16"	"OMIM:610498"	"combined oxidative phosphorylation defect type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:50"	""	""	"18539099, 28749478"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS160OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_7325-OMIM_619096-HP_0000007-GENCC_100002"	"HGNC:7325"	"MSH2"	"MONDO:0030840"	"mismatch repair cancer syndrome 2"	"OMIM:619096"	"Mismatch repair cancer syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7325"	"MSH2"	"OMIM:619096"	"mismatch repair cancer syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 20:57:43"	""	""	"15849733, 24362816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSH20CMMRD"	"2023-11-30"
"GENCC_000106-HGNC_7326-OMIM_617100-HP_0000007-GENCC_100002"	"HGNC:7326"	"MSH3"	"MONDO:0044300"	"familial adenomatous polyposis 4"	"OMIM:617100"	"Familial adenomatous polyposis 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7326"	"MSH3"	"OMIM:617100"	"familial adenomatous polyposis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-18 20:11:16"	""	""	"27476653, 28528517, 30862463, 31243857, 34250384, 35675019, 37402566"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSH30Familial"	"2023-11-30"
"GENCC_000106-HGNC_7329-OMIM_619097-HP_0000007-GENCC_100002"	"HGNC:7329"	"MSH6"	"MONDO:0030841"	"mismatch repair cancer syndrome 3"	"OMIM:619097"	"Mismatch repair cancer syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7329"	"MSH6"	"OMIM:619097"	"mismatch repair cancer syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-02 21:37:55"	""	""	"18269114, 24362816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSH60CMMRD"	"2023-11-30"
"GENCC_000106-HGNC_7329-OMIM_614350-HP_0000006-GENCC_100002"	"HGNC:7329"	"MSH6"	"MONDO:0013710"	"Lynch syndrome 5"	"OMIM:614350"	"Lynch syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7329"	"MSH6"	"OMIM:614350"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 03:03:02"	""	""	"10507723, 10518225, 11245474, 11333868, 11709755, 15098177, 18269114, 19900449, 20028993, 21642682, 22102614, 23091106, 23391514, 24362816, 27013479, 28466842, 28754778, 28772289, 31204389, 31337882, 9390556"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSH60Lynch"	"2023-11-30"
"GENCC_000106-HGNC_7373-OMIM_300988-HP_0001417-GENCC_100002"	"HGNC:7373"	"MSN"	"MONDO:0010514"	"combined immunodeficiency due to moesin deficiency"	"OMIM:300988"	"Immunodeficiency 50"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7373"	"MSN"	"OMIM:300988"	"combined immunodeficiency due to moesin deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-28 20:49:09"	""	""	"27405666, 28378256, 34645488, 36119109"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSN0CID"	"2023-11-30"
"GENCC_000106-HGNC_29678-OMIM_617675-HP_0000007-GENCC_100002"	"HGNC:29678"	"MSTO1"	"MONDO:0044714"	"mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"	"OMIM:617675"	"Myopathy, mitochondrial, and ataxia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29678"	"MSTO1"	"OMIM:617675"	"mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 20:37:49"	""	""	"28544275, 28554942, 29339779, 31463572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSTO10MSTO1rel"	"2023-11-30"
"GENCC_000106-HGNC_7392-OMIM_168550-HP_0000006-GENCC_100004"	"HGNC:7392"	"MSX2"	"MONDO:0008198"	"parietal foramina with cleidocranial dysplasia"	"OMIM:168550"	"Parietal foramina with cleidocranial dysplasia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7392"	"MSX2"	"OMIM:168550"	"parietal foramina with cleidocranial dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-31 07:26:11"	""	""	"14571277"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSX20ParietalForaW"	"2023-11-30"
"GENCC_000106-HGNC_7413-OMIM_112250-HP_0000006-GENCC_100002"	"HGNC:7413"	"MTAP"	"MONDO:0007205"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"OMIM:112250"	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7413"	"MTAP"	"OMIM:112250"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:28"	""	""	"19567676, 22464254"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTAP0DMS-MFH"	"2023-11-30"
"GENCC_000106-HGNC_19261-OMIM_614702-HP_0000007-GENCC_100002"	"HGNC:19261"	"MTO1"	"MONDO:0013865"	"mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"	"OMIM:614702"	"Combined oxidative phosphorylation deficiency 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19261"	"MTO1"	"OMIM:614702"	"mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 18:40:08"	""	""	"22608499, 23929671, 25058219"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTO10OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_7506-OMIM_619127-HP_0000007-GENCC_100002"	"HGNC:7506"	"MTX2"	"MONDO:0030880"	"mandibuloacral dysplasia progeroid syndrome"	"OMIM:619127"	"Mandibuloacral dysplasia progeroid syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7506"	"MTX2"	"OMIM:619127"	"mandibuloacral dysplasia progeroid syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-25 08:08:28"	""	""	"32917887"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTX20MTX2rel"	"2023-11-30"
"GENCC_000106-HGNC_7527-OMIM_608456-HP_0000007-GENCC_100002"	"HGNC:7527"	"MUTYH"	"MONDO:0012041"	"familial adenomatous polyposis 2"	"OMIM:608456"	"Adenomas, multiple colorectal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7527"	"MUTYH"	"OMIM:608456"	"classic familial adenomatous polyposis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 09:57:30"	""	""	"10498741, 107219, 12606733, 12853198, 17638869, 18534194, 19032956, 19620482, 19732775, 19953527, 20663686, 20848659, 21063410, 21171015, 21952991, 22744763, 23035301, 23460355, 23946381, 24444654, 27194394, 33059073"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MUTYH0MUTYHpolyposis"	"2023-11-30"
"GENCC_000106-HGNC_7530-OMIM_175900-HP_0000006-GENCC_100002"	"HGNC:7530"	"MVK"	"MONDO:0008293"	"porokeratosis 3, disseminated superficial actinic type"	"OMIM:175900"	"Porokeratosis 3, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7530"	"MVK"	"OMIM:175900"	"porokeratosis of Mibelli"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:55:51"	""	""	"16835861, 17105862, 23834120, 25120591, 26202976"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MVK0Porokeratosis"	"2023-11-30"
"GENCC_000106-HGNC_7549-OMIM_614915-HP_0000007-GENCC_100002"	"HGNC:7549"	"MYBPC1"	"MONDO:0013965"	"lethal congenital contracture syndrome 4"	"OMIM:614915"	"Lethal congenital contracture syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7549"	"MYBPC1"	"OMIM:614915"	"lethal congenital contracture syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"22610851, 26661508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYBPC10LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_7562-OMIM_612260-HP_0000007-GENCC_100002"	"HGNC:7562"	"MYD88"	"MONDO:0012839"	"pyogenic bacterial infections due to MyD88 deficiency"	"OMIM:612260"	"Immunodeficiency 68"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7562"	"MYD88"	"OMIM:612260"	"pyogenic bacterial infections due to MyD88 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-08 14:04:36"	""	""	"11067888, 15004134, 18669862, 20538326, 21057262, 24316379, 9697844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYD880MyD88def"	"2023-11-30"
"GENCC_000106-HGNC_7565-OMIM_618155-HP_0000007-GENCC_100002"	"HGNC:7565"	"MYF5"	"MONDO:0032565"	"ophthalmoplegia, external, with rib and vertebral anomalies"	"OMIM:618155"	"Ophthalmoplegia, external, with rib and vertebral anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7565"	"MYF5"	"OMIM:618155"	"ophthalmoplegia, external, with rib and vertebral anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-25 09:01:44"	""	""	"19531352, 29887215, 8918877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYF50MYF5rel"	"2023-11-30"
"GENCC_000106-HGNC_7569-OMIM_619351-HP_0000007-GENCC_100002"	"HGNC:7569"	"MYH11"	"MONDO:0025708"	"megacystis-microcolon-intestinal hypoperistalsis syndrome 2"	"OMIM:619351"	"Megacystis-microcolon-intestinal hypoperistalsis syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7569"	"MYH11"	"OMIM:619351"	"megacystis-microcolon-intestinal hypoperistalsis syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-13 20:43:30"	""	""	"25407000, 29575632, 29932067"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH110MMIH"	"2023-11-30"
"GENCC_000106-HGNC_7572-OMIM_605637-HP_0000007-GENCC_100002"	"HGNC:7572"	"MYH2"	"MONDO:0011577"	"myopathy, proximal, and ophthalmoplegia"	"OMIM:605637"	"Congenital myopathy 6 with ophthalmoplegia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7572"	"MYH2"	"OMIM:605637"	"hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 14:57:55"	""	""	"15548556, 20418530, 23388406, 24193343"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH20ProxMyo"	"2023-11-30"
"GENCC_000106-HGNC_7572-OMIM_605637-HP_0000006-GENCC_100002"	"HGNC:7572"	"MYH2"	"MONDO:0011577"	"myopathy, proximal, and ophthalmoplegia"	"OMIM:605637"	"Congenital myopathy 6 with ophthalmoplegia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7572"	"MYH2"	"OMIM:605637"	"hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 14:57:55"	""	""	"11114175, 1114175, 11889243, 17005402, 22496423, 36380287, 9708547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH20ProxMyo0DOM"	"2023-11-30"
"GENCC_000106-HGNC_7573-OMIM_618469-HP_0000007-GENCC_100002"	"HGNC:7573"	"MYH3"	"MONDO:0020746"	"contractures, pterygia, and variable skeletal fusions syndrome 1B"	"OMIM:618469"	"Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7573"	"MYH3"	"OMIM:618469"	"contractures, pterygia, and variable skeletal fusions syndrome 1B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 14:21:29"	""	""	"29805041, 30008475, 32902138"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH30Arthrogryposis02"	"2023-11-30"
"GENCC_000106-HGNC_7577-OMIM_255160-HP_0000007-GENCC_100002"	"HGNC:7577"	"MYH7"	"MONDO:0009708"	"myopathy, myosin storage, autosomal recessive"	"OMIM:255160"	"Congenital myopathy 7B, myosin storage, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7577"	"MYH7"	"OMIM:255160"	"myopathy, myosin storage, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-28 08:09:18"	""	""	"17372140, 25666907, 28973424, 31130376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH70DistalMyop02"	"2023-11-30"
"GENCC_000106-HGNC_7583-OMIM_608758-HP_0000006-GENCC_100002"	"HGNC:7583"	"MYL2"	"MONDO:0012112"	"hypertrophic cardiomyopathy 10"	"OMIM:608758"	"Cardiomyopathy, hypertrophic, 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7583"	"MYL2"	"OMIM:608758"	"hypertrophic cardiomyopathy 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:28"	""	""	"11102452, 12668451, 12707239, 18533079, 18929571, 19914255, 22429680, 23343568, 24111713, 28640247, 29988065"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYL20HCM"	"2023-11-30"
"GENCC_000106-HGNC_7584-OMIM_608751-HP_0000006-GENCC_100002"	"HGNC:7584"	"MYL3"	"MONDO:0012111"	"hypertrophic cardiomyopathy 8"	"OMIM:608751"	"Cardiomyopathy, hypertrophic, 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7584"	"MYL3"	"OMIM:608751"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 15:08:25"	""	""	"22131351, 22957257, 8673105, 9927691"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYL30HCM"	"2023-11-30"
"GENCC_000106-HGNC_7585-OMIM_617280-HP_0000006-GENCC_100002"	"HGNC:7585"	"MYL4"	"MONDO:0015001"	"atrial fibrillation, familial, 18"	"OMIM:617280"	"?Atrial fibrillation, familial, 18"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7585"	"MYL4"	"OMIM:617280"	"atrial fibrillation, familial, 18"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:18"	""	""	"27066836"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYL40Dom0Afib"	"2023-11-30"
"GENCC_000106-HGNC_7590-OMIM_613780-HP_0000006-GENCC_100002"	"HGNC:7590"	"MYLK"	"MONDO:0013418"	"aortic aneurysm, familial thoracic 7"	"OMIM:613780"	"Aortic aneurysm, familial thoracic 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7590"	"MYLK"	"OMIM:613780"	"thoracic aortic aneurysm"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"11096123, 21055718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYLK0TAAD"	"2023-11-30"
"GENCC_000106-HGNC_16243-OMIM_192600-HP_0000006-GENCC_100004"	"HGNC:16243"	"MYLK2"	"MONDO:0008647"	"hypertrophic cardiomyopathy 1"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1, digenic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16243"	"MYLK2"	"OMIM:192600"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-02-19 12:03:51"	""	""	"11733062, 24082139, 25825456, 27532257, 27884173, 28704380, 28798025, 30471092"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYLK20HCM"	"2023-11-30"
"GENCC_000106-HGNC_29824-OMIM_619110-HP_0000007-GENCC_100002"	"HGNC:29824"	"MYL11"	"MONDO:0030847"	"arthrogryposis, distal, type 1C"	"OMIM:619110"	"Arthrogryposis, distal, type 1C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29824"	"MYL11"	"OMIM:619110"	"arthrogryposis, distal, type 1C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:00"	""	""	"32707087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYLPF0Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_29824-OMIM_619110-HP_0000006-GENCC_100002"	"HGNC:29824"	"MYL11"	"MONDO:0030847"	"arthrogryposis, distal, type 1C"	"OMIM:619110"	"Arthrogryposis, distal, type 1C"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29824"	"MYL11"	"OMIM:619110"	"arthrogryposis, distal, type 1C"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:00"	""	""	"32707087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYLPF0Arthrogryposis02"	"2023-11-30"
"GENCC_000106-HGNC_7601-OMIM_607101-HP_0000007-GENCC_100002"	"HGNC:7601"	"MYO3A"	"MONDO:0011774"	"autosomal recessive nonsyndromic hearing loss 30"	"OMIM:607101"	"Deafness, autosomal recessive 30"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7601"	"MYO3A"	"OMIM:607101"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-23 18:24:56"	""	""	"12032315, 21165622, 23967202, 23990876, 250852, 251448, 25279224, 26841241"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO3A0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_7602-OMIM_214450-HP_0000007-GENCC_100002"	"HGNC:7602"	"MYO5A"	"MONDO:0008962"	"Griscelli syndrome type 1"	"OMIM:214450"	"Griscelli syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7602"	"MYO5A"	"OMIM:214450"	"Griscelli syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"10704277, 12148598, 12897212, 2300051, 24339992, 25283056, 9207796"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO5A0Griscelli"	"2023-11-30"
"GENCC_000106-HGNC_7605-OMIM_606346-HP_0000006-GENCC_100002"	"HGNC:7605"	"MYO6"	"MONDO:0011660"	"autosomal dominant nonsyndromic hearing loss 22"	"OMIM:606346"	"Deafness, autosomal dominant 22"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7605"	"MYO6"	"OMIM:606346"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-07 08:26:39"	""	""	"12687499, 18348273, 23767834, 23967202, 251338, 25999546, 281736"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO60Deafness"	"2023-11-30"
"GENCC_000106-HGNC_7605-OMIM_607821-HP_0000007-GENCC_100002"	"HGNC:7605"	"MYO6"	"MONDO:0011912"	"autosomal recessive nonsyndromic hearing loss 37"	"OMIM:607821"	"Deafness, autosomal recessive 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7605"	"MYO6"	"OMIM:607821"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-07 08:26:33"	""	""	"12687499, 28501645, 285016645, 30582396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO60Deafness02"	"2023-11-30"
"GENCC_000106-HGNC_7606-OMIM_601317-HP_0000006-GENCC_100002"	"HGNC:7606"	"MYO7A"	"MONDO:0011032"	"autosomal dominant nonsyndromic hearing loss 11"	"OMIM:601317"	"Deafness, autosomal dominant 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7606"	"MYO7A"	"OMIM:601317"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:28"	""	""	"15121790, 15221449, 15300860, 16449806, 21150918, 23383098, 26969326, 9354784"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DFNA11"	"2023-11-30"
"GENCC_000106-HGNC_16067-OMIM_618719-HP_0000006-GENCC_100004"	"HGNC:16067"	"MYOCD"	"MONDO:0032879"	"megabladder, congenital"	"OMIM:618719"	"Megabladder, congenital"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16067"	"MYOCD"	"OMIM:618719"	"megabladder, congenital"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-11 14:44:02"	""	""	"31513549, 3153549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYOCD0Megabladder"	"2023-11-30"
"GENCC_000106-HGNC_7611-OMIM_618975-HP_0000007-GENCC_100002"	"HGNC:7611"	"MYOD1"	"MONDO:0033548"	"myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies"	"OMIM:618975"	"Congenital myopathy 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7611"	"MYOD1"	"OMIM:618975"	"myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-18 11:22:37"	""	""	"26733463, 29770609, 29966037, 30403323, 31260566"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYOD10MYOD1rel"	"2023-11-30"
"GENCC_000106-HGNC_1330-OMIM_613838-HP_0000006-GENCC_100004"	"HGNC:1330"	"MYOZ2"	"MONDO:0013455"	"hypertrophic cardiomyopathy 16"	"OMIM:613838"	"Cardiomyopathy, hypertrophic, 16"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1330"	"MYOZ2"	"OMIM:613838"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"17347475, 18591919, 22987565, 23299917, 27066507, 27532257, 27600940, 27662471, 27788187, 28296734, 28798025, 29875424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYOZ20HCM"	"2023-11-30"
"GENCC_000106-HGNC_23246-OMIM_615248-HP_0000006-GENCC_100004"	"HGNC:23246"	"MYPN"	"MONDO:0014100"	"dilated cardiomyopathy 1KK"	"OMIM:615248"	"Cardiomyopathy, dilated, 1KK"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23246"	"MYPN"	"OMIM:615248"	"familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:28"	""	""	"10886477, 18006477, 22286171, 22892539, 25163546, 25448463, 26383716, 26458567, 28416588, 29095814, 30471092, 31737537, 31983221, 32041989, 32746448, 34088380"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYPN0DCM"	"2023-11-30"
"GENCC_000106-HGNC_23246-OMIM_617336-HP_0000007-GENCC_100002"	"HGNC:23246"	"MYPN"	"MONDO:0015023"	"MYPN-related myopathy"	"OMIM:617336"	"Congenital myopathy 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23246"	"MYPN"	"OMIM:617336"	"MYPN-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"28017374, 31133047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYPN0NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_1181-OMIM_618280-HP_0000006-GENCC_100002"	"HGNC:1181"	"MYRF"	"MONDO:0032653"	"cardiac-urogenital syndrome"	"OMIM:618280"	"Cardiac-urogenital syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1181"	"MYRF"	"OMIM:618280"	"cardiac-urogenital syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 02:39:09"	""	""	"29446546, 30070761, 30532227, 31069960"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYRF0CardioUroSynd"	"2023-11-30"
"GENCC_000106-HGNC_29401-OMIM_618116-HP_0000007-GENCC_100002"	"HGNC:29401"	"MYSM1"	"MONDO:0020856"	"bone marrow failure syndrome 4"	"OMIM:618116"	"Bone marrow failure syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29401"	"MYSM1"	"OMIM:618116"	"bone marrow failure syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-13 08:26:39"	""	""	"24288411, 26220525, 28115216, 30746751, 32640305, 32888943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYSM10MYSM1def"	"2023-11-30"
"GENCC_000106-HGNC_7623-OMIM_616521-HP_0000006-GENCC_100002"	"HGNC:7623"	"MYT1L"	"MONDO:0014678"	"intellectual disability, autosomal dominant 39"	"OMIM:616521"	"Intellectual developmental disorder, autosomal dominant 39"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7623"	"MYT1L"	"OMIM:616521"	"intellectual disability, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 14:01:43"	""	""	"25232846, 27824329"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYT1L0ID"	"2023-11-30"
"GENCC_000106-HGNC_18704-OMIM_300855-HP_0001417-GENCC_100002"	"HGNC:18704"	"NAA10"	"MONDO:0010457"	"Ogden syndrome"	"OMIM:300855"	"Ogden syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:18704"	"NAA10"	"OMIM:300855"	"Ogden syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-21 10:37:05"	""	""	"21700266, 24408909, 24431331, 25099252, 25489052, 26522270, 27094817, 31127942"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAA100Ogden"	"2023-11-30"
"GENCC_000106-HGNC_30782-OMIM_617787-HP_0000006-GENCC_100002"	"HGNC:30782"	"NAA15"	"MONDO:0030916"	"intellectual disability, autosomal dominant 50"	"OMIM:617787"	"Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30782"	"NAA15"	"OMIM:617787"	"intellectual disability, autosomal dominant 50"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-08 20:24:35"	""	""	"27824329, 28191889, 29656860"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAA150ASD"	"2023-11-30"
"GENCC_000106-HGNC_7632-OMIM_616491-HP_0000006-GENCC_100004"	"HGNC:7632"	"NAGLU"	"MONDO:0014665"	"Charcot-Marie-Tooth disease axonal type 2V"	"OMIM:616491"	"?Charcot-Marie-Tooth disease, axonal, type 2V"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7632"	"NAGLU"	"OMIM:616491"	"Charcot-Marie-Tooth disease axonal type 2V"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-23 22:23:55"	""	""	"25818867, 282780, 36648562"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAGLU0CMT"	"2023-11-30"
"GENCC_000106-HGNC_7632-OMIM_252920-HP_0000007-GENCC_100002"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"OMIM:252920"	"Mucopolysaccharidosis type IIIB (Sanfilippo B)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7632"	"NAGLU"	"OMIM:252920"	"mucopolysaccharidosis type 3B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-19 22:40:53"	""	""	"10094189, 16151907, 9832037"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAGLU0MPS0III"	"2023-11-30"
"GENCC_000106-HGNC_19082-OMIM_615419-HP_0000007-GENCC_100002"	"HGNC:19082"	"NALCN"	"MONDO:0024567"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 1"	"OMIM:615419"	"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19082"	"NALCN"	"OMIM:615419"	"hypotonia, infantile, with psychomotor retardation and characteristic facies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-06 11:46:28"	""	""	"17448995, 22508057, 23749988, 24075186"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NALCN0INDfacial"	"2023-11-30"
"GENCC_000106-HGNC_7643-OMIM_619092-HP_0000006-GENCC_100002"	"HGNC:7643"	"NARS1"	"MONDO:0030837"	"neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities"	"OMIM:619092"	"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7643"	"NARS1"	"OMIM:619092"	"neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:38:29"	""	""	"32738225, 32788587"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NARS10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_7643-OMIM_619091-HP_0000007-GENCC_100002"	"HGNC:7643"	"NARS1"	"MONDO:0100348"	"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"	"OMIM:619091"	"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7643"	"NARS1"	"OMIM:619091"	"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:52"	""	""	"32738225"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NARS10Neurodev02"	"2023-11-30"
"GENCC_000106-HGNC_7652-OMIM_609135-HP_0000006-GENCC_100004"	"HGNC:7652"	"NBN"	"MONDO:0012197"	"idiopathic aplastic anemia"	"OMIM:609135"	"{Aplastic anemia}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7652"	"NBN"	"OMIM:609135"	"idiopathic aplastic anemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 08:49:19"	""	""	"119292, 1351625, 14973119, 15185344, 16770759, 17957789, 19452044, 19908051, 21514219, 22006311, 23149842, 23765759, 26315354, 26402912, 26720728, 26786923, 27433846, 28376765, 28418444, 28649662, 29368341, 29522266, 29988077, 30128536, 30287823, 30730552, 30733081, 31214711, 31322208, 31406321, 31948886, 32832836, 33471974, 33471991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NBN0NBNrelCanc"	"2023-11-30"
"GENCC_000106-HGNC_7652-OMIM_251260-HP_0000007-GENCC_100002"	"HGNC:7652"	"NBN"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"OMIM:251260"	"Nijmegen breakage syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7652"	"NBN"	"OMIM:251260"	"Nijmegen breakage syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 21:32:01"	""	""	"11231126, 119292, 11953735, 16415040, 19635536, 20301355, 21252998, 9590180"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NBN0NBS0Nijmegen"	"2023-11-30"
"GENCC_000106-HGNC_4862-OMIM_618982-HP_0000007-GENCC_100002"	"HGNC:4862"	"NCKAP1L"	"MONDO:0033551"	"immunodeficiency 72 with autoinflammation"	"OMIM:618982"	"Immunodeficiency 72 with autoinflammation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4862"	"NCKAP1L"	"OMIM:618982"	"immunodeficiency 72 with autoinflammation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-23 08:37:44"	""	""	"19015308, 32647003, 32766723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCKAP1L0NCKAP1Lrel"	"2023-11-30"
"GENCC_000106-HGNC_17091-OMIM_142690-HP_0000006-GENCC_100002"	"HGNC:17091"	"NCSTN"	"MONDO:0007728"	"acne inversa, familial, 1"	"OMIM:142690"	"Acne inversa, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17091"	"NCSTN"	"OMIM:142690"	"acne inversa, familial, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-27 12:52:32"	""	""	"20929727, 21430701, 22358060"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCSTN0AcneInversa"	"2023-11-30"
"GENCC_000106-HGNC_26256-OMIM_618841-HP_0000006-GENCC_100002"	"HGNC:26256"	"NDNF"	"MONDO:0030010"	"hypogonadotropic hypogonadism 25 with anosmia"	"OMIM:618841"	"Hypogonadotropic hypogonadism 25 with anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26256"	"NDNF"	"OMIM:618841"	"hypogonadotropic hypogonadism 25 with anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:29"	""	""	"31883645"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDNF0NDNFrel"	"2023-11-30"
"GENCC_000106-HGNC_7678-OMIM_310600-HP_0001417-GENCC_100002"	"HGNC:7678"	"NDP"	"MONDO:0010691"	"Norrie disease"	"OMIM:310600"	"Norrie disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7678"	"NDP"	"OMIM:310600"	"Norrie disease"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-02 10:18:28"	""	""	"12040033, 17296899, 20301506, 20340138, 8789439"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDP0Norrie"	"2023-11-30"
"GENCC_000106-HGNC_7679-OMIM_601455-HP_0000007-GENCC_100002"	"HGNC:7679"	"NDRG1"	"MONDO:0011085"	"Charcot-Marie-Tooth disease type 4D"	"OMIM:601455"	"Charcot-Marie-Tooth disease, type 4D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7679"	"NDRG1"	"OMIM:601455"	"Charcot-Marie-Tooth disease type 4D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-26 07:43:58"	""	""	"1081399, 10831399, 12872253, 23996628, 8841199"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDRG10CMT"	"2023-11-30"
"GENCC_000106-HGNC_7680-OMIM_616116-HP_0000007-GENCC_100002"	"HGNC:7680"	"NDST1"	"MONDO:0014499"	"intellectual disability, autosomal recessive 46"	"OMIM:616116"	"Intellectual developmental disorder, autosomal recessive 46"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7680"	"NDST1"	"OMIM:616116"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-07 18:44:19"	""	""	"20807640, 21937992, 25125150, 25767878, 28211985, 28600779, 31164858"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDST10ID"	"2023-11-30"
"GENCC_000106-HGNC_7684-OMIM_618243-HP_0000007-GENCC_100002"	"HGNC:7684"	"NDUFA10"	"MONDO:0032626"	"mitochondrial complex 1 deficiency, nuclear type 22"	"OMIM:618243"	"Mitochondrial complex I deficiency, nuclear type 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7684"	"NDUFA10"	"OMIM:618243"	"mitochondrial complex 1 deficiency, nuclear type 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-18 09:30:21"	""	""	"21150889, 22200994, 26741492, 28247337"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFA100MC1def"	"2023-11-30"
"GENCC_000106-HGNC_23987-OMIM_618244-HP_0000007-GENCC_100002"	"HGNC:23987"	"NDUFA12"	"MONDO:0032627"	"mitochondrial complex 1 deficiency, nuclear type 23"	"OMIM:618244"	"Mitochondrial complex I deficiency, nuclear type 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23987"	"NDUFA12"	"OMIM:618244"	"mitochondrial complex 1 deficiency, nuclear type 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:19"	""	""	"21617257, 28454995, 30369941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFA120MC1def"	"2023-11-30"
"GENCC_000106-HGNC_7690-OMIM_618253-HP_0000007-GENCC_100002"	"HGNC:7690"	"NDUFA6"	"MONDO:0032636"	"mitochondrial complex 1 deficiency, nuclear type 33"	"OMIM:618253"	"Mitochondrial complex I deficiency, nuclear type 33"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7690"	"NDUFA6"	"OMIM:618253"	"mitochondrial complex 1 deficiency, nuclear type 33"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-21 16:21:32"	""	""	"20818383, 30245030"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFA60NDUFA6rel"	"2023-11-30"
"GENCC_000106-HGNC_7693-OMIM_618247-HP_0000007-GENCC_100004"	"HGNC:7693"	"NDUFA9"	"MONDO:0032630"	"mitochondrial complex 1 deficiency, nuclear type 26"	"OMIM:618247"	"Mitochondrial complex I deficiency, nuclear type 26"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7693"	"NDUFA9"	"OMIM:618247"	"mitochondrial complex 1 deficiency, nuclear type 26"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-01-21 16:14:47"	""	""	"21617257, 22114105, 28135719, 28671271, 5910587"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFA90MC1def"	"2023-11-30"
"GENCC_000106-HGNC_18828-OMIM_618234-HP_0000007-GENCC_100004"	"HGNC:18828"	"NDUFAF1"	"MONDO:0032617"	"mitochondrial complex 1 deficiency, nuclear type 11"	"OMIM:618234"	"Mitochondrial complex I deficiency, nuclear type 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18828"	"NDUFAF1"	"OMIM:618234"	"mitochondrial complex 1 deficiency, nuclear type 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-01-21 16:13:44"	""	""	"17557076, 20818383, 21931170, 24963768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFAF10MC1def"	"2023-11-30"
"GENCC_000106-HGNC_20372-OMIM_300952-HP_0001417-GENCC_100002"	"HGNC:20372"	"NDUFB11"	"MONDO:0010494"	"linear skin defects with multiple congenital anomalies 3"	"OMIM:300952"	"Linear skin defects with multiple congenital anomalies 3"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:20372"	"NDUFB11"	"OMIM:300952"	"linear skin defects with multiple congenital anomalies"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:19"	""	""	"25772934, 25921236"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFB110LinearSkin"	"2023-11-30"
"GENCC_000106-HGNC_7708-OMIM_618228-HP_0000007-GENCC_100002"	"HGNC:7708"	"NDUFS2"	"MONDO:0032611"	"mitochondrial complex 1 deficiency, nuclear type 6"	"OMIM:618228"	"Mitochondrial complex I deficiency, nuclear type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7708"	"NDUFS2"	"OMIM:618228"	"mitochondrial complex 1 deficiency, nuclear type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-21 16:13:23"	""	""	"11220739, 121218, 20818383, 20819849, 22036843, 23266820, 28031252, 29353736, 31411514"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFS20MC1def"	"2023-11-30"
"GENCC_000106-HGNC_7714-OMIM_618224-HP_0000007-GENCC_100002"	"HGNC:7714"	"NDUFS7"	"MONDO:0032608"	"mitochondrial complex 1 deficiency, nuclear type 3"	"OMIM:618224"	"Mitochondrial complex I deficiency, nuclear type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7714"	"NDUFS7"	"OMIM:618224"	"mitochondrial complex 1 deficiency, nuclear type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:06"	""	""	"10360771, 17275378, 17604671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFS70MC1def"	"2023-11-30"
"GENCC_000106-HGNC_24539-OMIM_615833-HP_0000007-GENCC_100002"	"HGNC:24539"	"NECAP1"	"MONDO:0014360"	"developmental and epileptic encephalopathy, 21"	"OMIM:615833"	"Developmental and epileptic encephalopathy 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24539"	"NECAP1"	"OMIM:615833"	"undetermined early-onset epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 17:29:23"	""	""	"24399846, 30525121, 30626896"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NECAP10EpilepEnceph"	"2023-11-30"
"GENCC_000106-HGNC_7728-OMIM_617201-HP_0000006-GENCC_100002"	"HGNC:7728"	"NEDD4L"	"MONDO:0014966"	"periventricular nodular heterotopia 7"	"OMIM:617201"	"Periventricular nodular heterotopia 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7728"	"NEDD4L"	"OMIM:617201"	"periventricular nodular heterotopia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 19:18:10"	""	""	"27694961"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEDD4L0PNH"	"2023-11-30"
"GENCC_000106-HGNC_7739-OMIM_607734-HP_0000007-GENCC_100002"	"HGNC:7739"	"NEFL"	"MONDO:0011902"	"Charcot-Marie-Tooth disease type 1F"	"OMIM:607734"	"Charcot-Marie-Tooth disease, type 1F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7739"	"NEFL"	"OMIM:607734"	"Charcot-Marie-Tooth disease type 1F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:06:02"	""	""	"16619203, 19158810, 20039262, 8468353"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEFL0CMT02"	"2023-11-30"
"GENCC_000106-HGNC_7744-OMIM_263520-HP_0000007-GENCC_100002"	"HGNC:7744"	"NEK1"	"MONDO:0009894"	"short-rib thoracic dysplasia 6 with or without polydactyly"	"OMIM:263520"	"Short-rib thoracic dysplasia 6 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7744"	"NEK1"	"OMIM:263520"	"short-rib thoracic dysplasia 6 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 09:37:43"	""	""	"21211617, 22499340, 22795106, 27530628, 29068549, 9070925"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEK10shortribpolydactyly"	"2023-11-30"
"GENCC_000106-HGNC_18592-OMIM_618781-HP_0000007-GENCC_100002"	"HGNC:18592"	"NEK10"	"MONDO:0032914"	"ciliary dyskinesia, primary, 44"	"OMIM:618781"	"Ciliary dyskinesia, primary, 44"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18592"	"NEK10"	"OMIM:618781"	"ciliary dyskinesia, primary, 44"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-15 12:49:02"	""	""	"31959991, 32414360"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEK100Bronchiectasis"	"2023-11-30"
"GENCC_000106-HGNC_10663-OMIM_619099-HP_0000007-GENCC_100002"	"HGNC:10663"	"NEMF"	"MONDO:0030849"	"intellectual developmental disorder with speech delay and axonal peripheral neuropathy"	"OMIM:619099"	"Intellectual developmental disorder with speech delay and axonal peripheral neuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10663"	"NEMF"	"OMIM:619099"	"intellectual developmental disorder with speech delay and axonal peripheral neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-24 12:24:51"	""	""	"27431290, 32934225"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEMF0ID"	"2023-11-30"
"GENCC_000106-HGNC_7762-OMIM_606394-HP_0000006-GENCC_100002"	"HGNC:7762"	"NEUROD1"	"MONDO:0011668"	"maturity-onset diabetes of the young type 6"	"OMIM:606394"	"Maturity-onset diabetes of the young 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7762"	"NEUROD1"	"OMIM:606394"	"maturity-onset diabetes of the young type 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-18 20:16:48"	""	""	"10545951, 11719843, 16321269, 16936201, 17440689, 17551475, 182542624, 182543455, 18331410, 18811724, 20573748, 24411943, 25041077, 25477324, 25684977, 26773576, 28664602, 9308961, 9566915, 9858593"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEUROD10MODY"	"2023-11-30"
"GENCC_000106-HGNC_7782-OMIM_617744-HP_0000006-GENCC_100002"	"HGNC:7782"	"NFE2L2"	"MONDO:0060591"	"immunodeficiency, developmental delay, and hypohomocysteinemia"	"OMIM:617744"	"Immunodeficiency, developmental delay, and hypohomocysteinemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7782"	"NFE2L2"	"OMIM:617744"	"immunodeficiency, developmental delay, and hypohomocysteinemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:29"	""	""	"28135719, 29018201"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFE2L20NFE2L2GOF"	"2023-11-30"
"GENCC_000106-HGNC_7785-OMIM_618286-HP_0000006-GENCC_100002"	"HGNC:7785"	"NFIB"	"MONDO:0032658"	"macrocephaly, acquired, with impaired intellectual development"	"OMIM:618286"	"Macrocephaly, acquired, with impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7785"	"NFIB"	"OMIM:618286"	"macrocephaly, acquired, with impaired intellectual development"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-12 16:43:58"	""	""	"30388402"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFIB0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_7788-OMIM_602535-HP_0000006-GENCC_100002"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"OMIM:602535"	"Marshall-Smith syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7788"	"NFIX"	"OMIM:602535"	"Marshall-Smith syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 18:16:32"	""	""	"20673863, 20949508, 24924640, 29897170, 31088393, 31369202, 32945093, 35887841, 36437934"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFIX0MarshallSmith"	"2023-11-30"
"GENCC_000106-HGNC_7794-OMIM_616576-HP_0000006-GENCC_100002"	"HGNC:7794"	"NFKB1"	"MONDO:0014697"	"immunodeficiency, common variable, 12"	"OMIM:616576"	"Immunodeficiency, common variable, 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7794"	"NFKB1"	"OMIM:616576"	"common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-21 21:26:07"	""	""	"26279205, 29477724"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFKB10CVID"	"2023-11-30"
"GENCC_000106-HGNC_15910-OMIM_619386-HP_0000007-GENCC_100002"	"HGNC:15910"	"NFS1"	"MONDO:0030311"	"combined oxidative phosphorylation deficiency 52"	"OMIM:619386"	"Combined oxidative phosphorylation deficiency 52"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15910"	"NFS1"	"OMIM:619386"	"combined oxidative phosphorylation deficiency 52"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:05:04"	""	""	"16787928, 16847322, 24498631, 33457206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFS10IMC23D"	"2023-11-30"
"GENCC_000106-HGNC_16287-OMIM_605711-HP_0000007-GENCC_100002"	"HGNC:16287"	"NFU1"	"MONDO:0011582"	"multiple mitochondrial dysfunctions syndrome 1"	"OMIM:605711"	"Multiple mitochondrial dysfunctions syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16287"	"NFU1"	"OMIM:605711"	"multiple mitochondrial dysfunctions syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-24 13:32:13"	""	""	"121412, 21944046, 22077971, 23179554, 24462778, 25758857, 25918518, 26688339, 28186588, 28470589, 28803783"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFU10MMdys"	"2023-11-30"
"GENCC_000106-HGNC_7808-OMIM_608654-HP_0000007-GENCC_100002"	"HGNC:7808"	"NGF"	"MONDO:0012092"	"hereditary sensory and autonomic neuropathy type 5"	"OMIM:608654"	"Neuropathy, hereditary sensory and autonomic, type V"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7808"	"NGF"	"OMIM:608654"	"hereditary sensory and autonomic neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"14976160, 19038341, 19945432, 20978020, 21387003, 22302274"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NGF0HSAN"	"2023-11-30"
"GENCC_000106-HGNC_25737-OMIM_611291-HP_0000007-GENCC_100002"	"HGNC:25737"	"NHEJ1"	"MONDO:0012650"	"Cernunnos-XLF deficiency"	"OMIM:611291"	"Immunodeficiency 124, severe combined"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25737"	"NHEJ1"	"OMIM:611291"	"Cernunnos-XLF deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 18:37:23"	""	""	"16439204, 16439205, 18775323, 20597108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NHEJ10SCID"	"2023-11-30"
"GENCC_000106-HGNC_17043-OMIM_600363-HP_0000006-GENCC_100002"	"HGNC:17043"	"NIPA1"	"MONDO:0010878"	"hereditary spastic paraplegia 6"	"OMIM:600363"	"Spastic paraplegia 6, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17043"	"NIPA1"	"OMIM:600363"	"hereditary spastic paraplegia 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-12 21:14:44"	""	""	"15643603, 17166836, 19091982, 20816793, 21419568"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NIPA10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_32940-OMIM_217095-HP_0000007-GENCC_100004"	"HGNC:32940"	"NKX2-6"	"MONDO:0016581"	"conotruncal heart malformations"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32940"	"NKX2-6"	"OMIM:217095"	"conotruncal heart malformations"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-29 08:11:54"	""	""	"10733590, 15649947, 24421281, 25195019, 25319568, 25380965, 27808268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NKX2-60SyndStructHeart02"	"2023-11-30"
"GENCC_000106-HGNC_19321-OMIM_617560-HP_0000007-GENCC_100002"	"HGNC:19321"	"NKX6-2"	"MONDO:0033043"	"spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"	"OMIM:617560"	"Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19321"	"NKX6-2"	"OMIM:617560"	"spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-13 15:16:46"	""	""	"15601927, 28575651, 28940097, 28969374, 28991257, 29388673"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NKX6-20HLD"	"2023-11-30"
"GENCC_000106-HGNC_16412-OMIM_616050-HP_0000006-GENCC_100002"	"HGNC:16412"	"NLRC4"	"MONDO:0014472"	"periodic fever-infantile enterocolitis-autoinflammatory syndrome"	"OMIM:616050"	"Autoinflammation with infantile enterocolitis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16412"	"NLRC4"	"OMIM:616050"	"periodic fever-infantile enterocolitis-autoinflammatory syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-18 14:01:39"	""	""	"25217959, 25217960, 27203668, 28403691"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRC40AutoinflamInfan"	"2023-11-30"
"GENCC_000106-HGNC_22947-OMIM_231090-HP_0000007-GENCC_100002"	"HGNC:22947"	"NLRP7"	"MONDO:0009273"	"hydatidiform mole, recurrent, 1"	"OMIM:231090"	"Hydatidiform mole, recurrent, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22947"	"NLRP7"	"OMIM:231090"	"gestational trophoblastic neoplasm"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 10:53:05"	""	""	"18039680, 19066229, 19246479, 19309689, 23125094, 30388401"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRP70HYDM1"	"2023-11-30"
"GENCC_000106-HGNC_16473-OMIM_610852-HP_0000007-GENCC_100004"	"HGNC:16473"	"NME8"	"MONDO:0012571"	"primary ciliary dyskinesia 6"	"OMIM:610852"	"?Ciliary dyskinesia, primary, 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16473"	"NME8"	"OMIM:610852"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-25 13:42:23"	""	""	"17360648, 22499950, 25525159, 29363216, 31980526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NME80PCD"	"2023-11-30"
"GENCC_000106-HGNC_22448-OMIM_611548-HP_0000006-GENCC_100004"	"HGNC:22448"	"NOBOX"	"MONDO:0012689"	"premature ovarian failure 5"	"OMIM:611548"	"Premature ovarian failure 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:22448"	"NOBOX"	"OMIM:611548"	"inherited primary ovarian failure"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-12-22 15:03:24"	""	""	"15326356, 21837770, 27798098, 33095795, 417053214"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOBOX0Prematur02"	"2023-11-30"
"GENCC_000106-HGNC_5331-OMIM_186580-HP_0000006-GENCC_100002"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"OMIM:186580"	"Blau syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5331"	"NOD2"	"OMIM:186580"	"Blau syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-20 21:13:36"	""	""	"11528384, 15459013, 17968944, 19479836, 25136265, 25416713"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOD20Blau"	"2023-11-30"
"GENCC_000106-HGNC_7865-OMIM_270100-HP_0000006-GENCC_100002"	"HGNC:7865"	"NODAL"	"MONDO:0700112"	"heterotaxy, visceral, 5, autosomal"	"OMIM:270100"	"Heterotaxy, visceral, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7865"	"NODAL"	"OMIM:270100"	"visceral heterotaxy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:19"	""	""	"19064609, 19933292, 30622330"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NODAL0Heterotaxy"	"2023-11-30"
"GENCC_000106-HGNC_7869-OMIM_614937-HP_0000006-GENCC_100004"	"HGNC:7869"	"NOL3"	"MONDO:0100093"	"myoclonus, familial, 1"	"OMIM:614937"	"?Myoclonus, familial, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7869"	"NOL3"	"OMIM:614937"	"myoclonus, familial, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"22926851, 25138476"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOL30EPM1"	"2023-11-30"
"GENCC_000106-HGNC_7871-OMIM_300967-HP_0001417-GENCC_100002"	"HGNC:7871"	"NONO"	"MONDO:0010501"	"syndromic X-linked intellectual disability 34"	"OMIM:300967"	"Intellectual developmental disorder, X-linked syndromic 34"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7871"	"NONO"	"OMIM:300967"	"syndromic X-linked intellectual disability 34"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 21:14:23"	""	""	"23267082, 26571461, 27329731, 27550220, 31883306"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NONO0ID"	"2023-11-30"
"GENCC_000106-HGNC_16859-OMIM_619155-HP_0000007-GENCC_100004"	"HGNC:16859"	"NOS1AP"	"MONDO:0030895"	"nephrotic syndrome, type 22"	"OMIM:619155"	"Nephrotic syndrome, type 22"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16859"	"NOS1AP"	"OMIM:619155"	"nephrotic syndrome, type 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:57"	""	""	"33523862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOS1AP0NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_7882-OMIM_102500-HP_0000006-GENCC_100002"	"HGNC:7882"	"NOTCH2"	"MONDO:0007057"	"Acroosteolysis dominant type"	"OMIM:102500"	"Hajdu-Cheney syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7882"	"NOTCH2"	"OMIM:102500"	"Acroosteolysis dominant type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 16:00:26"	""	""	"11171333, 19445024, 21378985, 21378989, 23389697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOTCH20HajduCheney"	"2023-11-30"
"GENCC_000106-HGNC_7883-OMIM_130720-HP_0000006-GENCC_100002"	"HGNC:7883"	"NOTCH3"	"MONDO:0007537"	"lateral meningocele syndrome"	"OMIM:130720"	"Lateral meningocele syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7883"	"NOTCH3"	"OMIM:130720"	"lateral meningocele syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:42:48"	""	""	"25394726, 26754023, 27336130"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOTCH30LateralMen"	"2023-11-30"
"GENCC_000106-HGNC_7887-OMIM_618859-HP_0000006-GENCC_100002"	"HGNC:7887"	"NOVA2"	"MONDO:0030024"	"neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities"	"OMIM:618859"	"Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7887"	"NOVA2"	"OMIM:618859"	"neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 17:39:52"	""	""	"31231135, 32197073"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOVA20NOVA2rel"	"2023-11-30"
"GENCC_000106-HGNC_7908-OMIM_256300-HP_0000007-GENCC_100002"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"OMIM:256300"	"Nephrotic syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7908"	"NPHS1"	"OMIM:256300"	"nephrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 13:46:42"	""	""	"10577936, 11317351, 11854170, 12039988, 16752799, 17413422, 23949594, 25349199, 26961288, 28204945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPHS10NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_7939-OMIM_615745-HP_0000007-GENCC_100004"	"HGNC:7939"	"NPPA"	"MONDO:0014329"	"atrial standstill 2"	"OMIM:615745"	"Atrial standstill 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7939"	"NPPA"	"OMIM:615745"	"atrial standstill"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"23275345"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPPA0DCM"	"2023-11-30"
"GENCC_000106-HGNC_7960-OMIM_300200-HP_0001417-GENCC_100002"	"HGNC:7960"	"NR0B1"	"MONDO:0010264"	"X-linked adrenal hypoplasia congenita"	"OMIM:300200"	"Adrenal hypoplasia, congenital"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7960"	"NR0B1"	"OMIM:300200"	"X-linked adrenal hypoplasia congenita"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 19:36:36"	""	""	"15841486, 23512386, 25993682, 26464492, 7990958, 9529340, 9843206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR0B10CAH"	"2023-11-30"
"GENCC_000106-HGNC_7974-OMIM_268100-HP_0000007-GENCC_100002"	"HGNC:7974"	"NR2E3"	"MONDO:0100288"	"enhanced S-cone syndrome"	"OMIM:268100"	"Enhanced S-cone syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7974"	"NR2E3"	"OMIM:268100"	"enhanced S-cone syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:09:05"	""	""	"15453866, 15459973, 19898638, 21217109, 23039133, 27522502"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR2E30ESCS"	"2023-11-30"
"GENCC_000106-HGNC_7974-OMIM_611131-HP_0000006-GENCC_100002"	"HGNC:7974"	"NR2E3"	"MONDO:0012625"	"retinitis pigmentosa 37"	"OMIM:611131"	"Retinitis pigmentosa 37"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7974"	"NR2E3"	"OMIM:611131"	"retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:30"	""	""	"17564971, 18188946, 19006237, 19823680, 19933183, 24938718, 26667666, 26910043, 27013732, 29785639"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR2E30RP"	"2023-11-30"
"GENCC_000106-HGNC_8001-OMIM_618270-HP_0000006-GENCC_100004"	"HGNC:8001"	"NRIP1"	"MONDO:0032646"	"congenital anomalies of kidney and urinary tract 3"	"OMIM:618270"	"?Congenital anomalies of kidney and urinary tract 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8001"	"NRIP1"	"OMIM:618270"	"congenital anomalies of kidney and urinary tract 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-17 13:46:24"	""	""	"25790160, 28381549, 30143558"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRIP10CAKUT"	"2023-11-30"
"GENCC_000106-HGNC_8002-OMIM_613750-HP_0000007-GENCC_100002"	"HGNC:8002"	"NRL"	"MONDO:0013402"	"retinitis pigmentosa 27"	"OMIM:613750"	"Retinitis pigmentosa 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8002"	"NRL"	"OMIM:613750"	"retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 16:53:20"	""	""	"11694879, 15459973, 15591106, 17335001, 21217109, 22334370, 25412400, 26306921, 27624628, 29186038, 29385733"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRL0RetinalDegen"	"2023-11-30"
"GENCC_000106-HGNC_8002-OMIM_613750-HP_0000006-GENCC_100002"	"HGNC:8002"	"NRL"	"MONDO:0013402"	"retinitis pigmentosa 27"	"OMIM:613750"	"Retinitis pigmentosa 27"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8002"	"NRL"	"OMIM:613750"	"retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 16:53:20"	""	""	"10192380, 11039579, 11385710, 11879142, 12796249, 15459973, 15591106, 17335001, 21981118, 27081294, 29847639"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRL0RP"	"2023-11-30"
"GENCC_000106-HGNC_24613-OMIM_618875-HP_0000007-GENCC_100002"	"HGNC:24613"	"NRROS"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"OMIM:618875"	"Seizures, early-onset, with neurodegeneration and brain calcification"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24613"	"NRROS"	"OMIM:618875"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-28 09:28:29"	""	""	"32100099, 32197075"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRROS0NeuroCalc"	"2023-11-30"
"GENCC_000106-HGNC_13398-OMIM_308050-HP_0001417-GENCC_100002"	"HGNC:13398"	"NSDHL"	"MONDO:0010621"	"CHILD syndrome"	"OMIM:308050"	"CHILD syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:13398"	"NSDHL"	"OMIM:308050"	"CHILD syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 22:31:11"	""	""	"10710235, 12966526, 21129721, 26611379, 300275"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSDHL0CHILD"	"2023-11-30"
"GENCC_000106-HGNC_13398-OMIM_300831-HP_0001417-GENCC_100002"	"HGNC:13398"	"NSDHL"	"MONDO:0010441"	"CK syndrome"	"OMIM:300831"	"CK syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:13398"	"NSDHL"	"OMIM:300831"	"CK syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 22:31:01"	""	""	"21129721"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSDHL0CK"	"2023-11-30"
"GENCC_000106-HGNC_8016-OMIM_619340-HP_0000006-GENCC_100004"	"HGNC:8016"	"NSF"	"MONDO:0023659"	"developmental and epileptic encephalopathy 96"	"OMIM:619340"	"Developmental and epileptic encephalopathy 96"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8016"	"NSF"	"OMIM:619340"	"developmental and epileptic encephalopathy 96"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-08 14:53:54"	""	""	"31675180"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSF0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_26513-OMIM_617253-HP_0000007-GENCC_100002"	"HGNC:26513"	"NSMCE2"	"MONDO:0014991"	"Seckel syndrome 10"	"OMIM:617253"	"Seckel syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26513"	"NSMCE2"	"OMIM:617253"	"microcephalic primordial dwarfism-insulin resistance syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"25058500, 25105364, 26443207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSMCE20Seckel"	"2023-11-30"
"GENCC_000106-HGNC_29843-OMIM_614838-HP_0000006-GENCC_100002"	"HGNC:29843"	"NSMF"	"MONDO:0013911"	"hypogonadotropic hypogonadism 9 with or without anosmia"	"OMIM:614838"	"Hypogonadotropic hypogonadism 9 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29843"	"NSMF"	"OMIM:614838"	"hypogonadotropic hypogonadism 9 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:30"	""	""	"15362570, 17235395, 20696889, 21209029, 21300340, 30098700, 31220265"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSMF0Hypogona013"	"2023-11-30"
"GENCC_000106-HGNC_25994-OMIM_611091-HP_0000007-GENCC_100002"	"HGNC:25994"	"NSUN2"	"MONDO:0012613"	"intellectual disability, autosomal recessive 5"	"OMIM:611091"	"Intellectual developmental disorder, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25994"	"NSUN2"	"OMIM:611091"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:18"	""	""	"2241562, 22541559, 22541562, 22577224"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSUN20NSUN2rel"	"2023-11-30"
"GENCC_000106-HGNC_26208-OMIM_619012-HP_0000007-GENCC_100004"	"HGNC:26208"	"NSUN3"	"MONDO:0033566"	"combined oxidative phosphorylation deficiency 48"	"OMIM:619012"	"Combined oxidative phosphorylation deficiency 48"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26208"	"NSUN3"	"OMIM:619012"	"combined oxidative phosphorylation deficiency 48"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-22 10:14:41"	""	""	"27356879, 32488845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSUN30CMRCCD"	"2023-11-30"
"GENCC_000106-HGNC_8029-OMIM_618264-HP_0000006-GENCC_100002"	"HGNC:8029"	"NTN1"	"MONDO:0032641"	"mirror movements 4"	"OMIM:618264"	"Mirror movements 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8029"	"NTN1"	"OMIM:618264"	"mirror movements 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:30"	""	""	"28945198"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NTN10NTN1rel"	"2023-11-30"
"GENCC_000106-HGNC_14288-OMIM_618718-HP_0000007-GENCC_100002"	"HGNC:14288"	"NTNG2"	"MONDO:0032878"	"neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"	"OMIM:618718"	"Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14288"	"NTNG2"	"OMIM:618718"	"neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-20 09:50:10"	""	""	"31372774, 31668703"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NTNG20NTNG2rel"	"2023-11-30"
"GENCC_000106-HGNC_8031-OMIM_256800-HP_0000007-GENCC_100002"	"HGNC:8031"	"NTRK1"	"MONDO:0009746"	"hereditary sensory and autonomic neuropathy type 4"	"OMIM:256800"	"Insensitivity to pain, congenital, with anhidrosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8031"	"NTRK1"	"OMIM:256800"	"hereditary sensory and autonomic neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 15:34:39"	""	""	"10330344, 10982191, 191315, 22302274, 256800, 25744033, 8145823"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NTRK10HSAN"	"2023-11-30"
"GENCC_000106-HGNC_29558-OMIM_619452-HP_0000007-GENCC_100004"	"HGNC:29558"	"NUAK2"	"MONDO:0030338"	"anencephaly 2"	"OMIM:619452"	"?Anencephaly 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29558"	"NUAK2"	"OMIM:619452"	"anencephaly 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-03 07:42:44"	""	""	"32845958"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUAK20Anenceph"	"2023-11-30"
"GENCC_000106-HGNC_20278-OMIM_618242-HP_0000007-GENCC_100002"	"HGNC:20278"	"NUBPL"	"MONDO:0032625"	"mitochondrial complex 1 deficiency, nuclear type 21"	"OMIM:618242"	"Mitochondrial complex I deficiency, nuclear type 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20278"	"NUBPL"	"OMIM:618242"	"mitochondrial complex 1 deficiency, nuclear type 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-16 08:44:57"	""	""	"20818383, 22072591, 22826544, 23553477, 23828044, 29982452, 30609409, 30897263, 31787496, 31917109"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUBPL0MC1def"	"2023-11-30"
"GENCC_000106-HGNC_8063-OMIM_615770-HP_0000007-GENCC_100004"	"HGNC:8063"	"NUP155"	"MONDO:0014340"	"atrial fibrillation, familial, 15"	"OMIM:615770"	"?Atrial fibrillation 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8063"	"NUP155"	"OMIM:615770"	"familial atrial fibrillation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-03-26 08:33:20"	""	""	"15596564, 19070573, 25602437"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1550?AtrialF"	"2023-11-30"
"GENCC_000106-HGNC_17859-OMIM_618804-HP_0000007-GENCC_100002"	"HGNC:17859"	"NUP188"	"MONDO:0032926"	"sandestig-stefanova syndrome"	"OMIM:618804"	"Sandestig-Stefanova syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17859"	"NUP188"	"OMIM:618804"	"sandestig-stefanova syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-08 06:31:06"	""	""	"32021605, 32275884"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1880SANDSTEF"	"2023-11-30"
"GENCC_000106-HGNC_18658-OMIM_616893-HP_0000007-GENCC_100002"	"HGNC:18658"	"NUP205"	"MONDO:0014818"	"nephrotic syndrome, type 13"	"OMIM:616893"	"?Nephrotic syndrome, type 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18658"	"NUP205"	"OMIM:616893"	"familial idiopathic steroid-resistant nephrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"26878725, 29127259"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP2050SRNS"	"2023-11-30"
"GENCC_000106-HGNC_8064-OMIM_618426-HP_0000007-GENCC_100002"	"HGNC:8064"	"NUP214"	"MONDO:0032742"	"encephalopathy, acute, infection-induced, susceptibility to, 9"	"OMIM:618426"	"{Encephalopathy, acute, infection-induced, susceptibility to, 9}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8064"	"NUP214"	"OMIM:618426"	"encephalopathy, acute, infection-induced, susceptibility to, 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-09 08:25:19"	""	""	"29483668, 30758658, 31178128"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP2140NUP214rel"	"2023-11-30"
"GENCC_000106-HGNC_28958-OMIM_616892-HP_0000007-GENCC_100002"	"HGNC:28958"	"NUP93"	"MONDO:0014817"	"nephrotic syndrome, type 12"	"OMIM:616892"	"Nephrotic syndrome, type 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28958"	"NUP93"	"OMIM:616892"	"familial idiopathic steroid-resistant nephrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 02:20:09"	""	""	"250624, 251434, 26878725, 28117080, 281850, 281912, 282600, 29869118, 31315584"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP930NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_21042-OMIM_617082-HP_0000007-GENCC_100004"	"HGNC:21042"	"NUS1"	"MONDO:0014904"	"congenital disorder of glycosylation, type IAA"	"OMIM:617082"	"?Congenital disorder of glycosylation, type 1aa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21042"	"NUS1"	"OMIM:617082"	"congenital disorder of glycosylation, type IAA"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"25066056"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUS10CDG"	"2023-11-30"
"GENCC_000106-HGNC_21042-OMIM_617831-HP_0000006-GENCC_100002"	"HGNC:21042"	"NUS1"	"MONDO:0030921"	"intellectual disability, autosomal dominant 55, with seizures"	"OMIM:617831"	"Intellectual developmental disorder, autosomal dominant 55, with seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21042"	"NUS1"	"OMIM:617831"	"intellectual disability, autosomal dominant 55, with seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 10:31:13"	""	""	"25066056, 29100083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUS10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_8082-OMIM_310500-HP_0001417-GENCC_100002"	"HGNC:8082"	"NYX"	"MONDO:0010690"	"congenital stationary night blindness 1A"	"OMIM:310500"	"Night blindness, congenital stationary (complete), 1A, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8082"	"NYX"	"OMIM:310500"	"congenital stationary night blindness 1A"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:02:50"	""	""	"11062471, 11062472, 12506099, 12552565, 17881478, 19578023, 20301423, 22735794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NYX0NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_8086-OMIM_618042-HP_0000006-GENCC_100002"	"HGNC:8086"	"OAS1"	"MONDO:0020840"	"pulmonary alveolar proteinosis with hypogammaglobulinemia"	"OMIM:618042"	"Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8086"	"OAS1"	"OMIM:618042"	"pulmonary alveolar proteinosis with hypogammaglobulinemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-07 16:50:23"	""	""	"29455859, 34145065, 34647697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OAS10PAPhypogamm"	"2023-11-30"
"GENCC_000106-HGNC_8091-OMIM_258870-HP_0000007-GENCC_100002"	"HGNC:8091"	"OAT"	"MONDO:0009796"	"ornithine aminotransferase deficiency"	"OMIM:258870"	"Gyrate atrophy of choroid and retina with or without ornithinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8091"	"OAT"	"OMIM:258870"	"ornithine aminotransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 14:13:21"	""	""	"11297489, 1737786, 23076989, 258870, 28272331, 7254775"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OAT0GyrateAtrophy"	"2023-11-30"
"GENCC_000106-HGNC_8104-OMIM_251290-HP_0000007-GENCC_100002"	"HGNC:8104"	"OCLN"	"MONDO:0020789"	"pseudo-TORCH syndrome 1"	"OMIM:251290"	"Pseudo-TORCH syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8104"	"OCLN"	"OMIM:251290"	"pseudo-TORCH syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-01 09:55:46"	""	""	"11102513, 20727516, 28179633"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OCLN0BandCalc"	"2023-11-30"
"GENCC_000106-HGNC_2567-OMIM_311200-HP_0001417-GENCC_100002"	"HGNC:2567"	"OFD1"	"MONDO:0010702"	"orofaciodigital syndrome I"	"OMIM:311200"	"Orofaciodigital syndrome I"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2567"	"OFD1"	"OMIM:311200"	"orofaciodigital syndrome I"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 19:38:30"	""	""	"16783569, 18546297, 27081566"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OFD1"	"2023-11-30"
"GENCC_000106-HGNC_8127-OMIM_300997-HP_0001417-GENCC_100002"	"HGNC:8127"	"OGT"	"MONDO:0030907"	"intellectual disability, X-linked 106"	"OMIM:300997"	"Intellectual developmental disorder, X-linked 106"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8127"	"OGT"	"OMIM:300997"	"intellectual disability, X-linked 106"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-11-22 09:47:41"	""	""	"26273451, 28302723, 28584052"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OGT0XLID"	"2023-11-30"
"GENCC_000106-HGNC_8142-OMIM_258501-HP_0000007-GENCC_100002"	"HGNC:8142"	"OPA3"	"MONDO:0009787"	"3-methylglutaconic aciduria type 3"	"OMIM:258501"	"3-methylglutaconic aciduria, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8142"	"OPA3"	"OMIM:258501"	"3-methylglutaconic aciduria type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"11668429, 25201222"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPA303Methyl"	"2023-11-30"
"GENCC_000106-HGNC_8142-OMIM_165300-HP_0000006-GENCC_100002"	"HGNC:8142"	"OPA3"	"MONDO:0008133"	"optic atrophy 3"	"OMIM:165300"	"Optic atrophy 3 with cataract"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8142"	"OPA3"	"OMIM:165300"	"optic atrophy 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:30"	""	""	"15342707, 22776096, 24136862, 25159689, 25205859"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPA30OpticAtroph"	"2023-11-30"
"GENCC_000106-HGNC_8148-OMIM_300486-HP_0001417-GENCC_100002"	"HGNC:8148"	"OPHN1"	"MONDO:0010337"	"X-linked intellectual disability-cerebellar hypoplasia syndrome"	"OMIM:300486"	"Intellectual developmental disorder, X-linked syndromic, Billuart type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8148"	"OPHN1"	"OMIM:300486"	"syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-08 08:00:23"	""	""	"12805098, 12807966, 17304053, 17728457, 27160703, 29510240, 9582072"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPHN10ID"	"2023-11-30"
"GENCC_000106-HGNC_1012-OMIM_190900-HP_0000006-GENCC_100002"	"HGNC:1012"	"OPN1SW"	"MONDO:0008610"	"blue color blindness"	"OMIM:190900"	"Colorblindness, tritan"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1012"	"OPN1SW"	"OMIM:190900"	"blue color blindness"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:30"	""	""	"1386496, 1531728, 16961973, 17429491, 21219924, 23022137, 26747767, 3872255"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPN1SW0Colorblind"	"2023-11-30"
"GENCC_000106-HGNC_17142-OMIM_613435-HP_0000007-GENCC_100002"	"HGNC:17142"	"OPTN"	"MONDO:0013264"	"amyotrophic lateral sclerosis type 12"	"OMIM:613435"	"Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17142"	"OPTN"	"OMIM:613435"	"familial amyotrophic lateral sclerosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-22 14:46:18"	""	""	"20428114, 21220178, 21550138, 21802176, 22892313, 23062601, 26740678"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPTN0ALS"	"2023-11-30"
"GENCC_000106-HGNC_25896-OMIM_612782-HP_0000007-GENCC_100002"	"HGNC:25896"	"ORAI1"	"MONDO:0013007"	"combined immunodeficiency due to ORAI1 deficiency"	"OMIM:612782"	"Immunodeficiency 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25896"	"ORAI1"	"OMIM:612782"	"combined immunodeficiency due to ORAI1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 15:19:23"	""	""	"16582901, 18187424, 20004786, 20956344, 22641696, 26070885"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ORAI10ORAI1def"	"2023-11-30"
"GENCC_000106-HGNC_25896-OMIM_615883-HP_0000006-GENCC_100002"	"HGNC:25896"	"ORAI1"	"MONDO:0014383"	"myopathy, tubular aggregate, 2"	"OMIM:615883"	"Myopathy, tubular aggregate, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25896"	"ORAI1"	"OMIM:615883"	"tubular aggregate myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:20"	""	""	"15452313, 24591628, 25227914"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ORAI10TAM"	"2023-11-30"
"GENCC_000106-HGNC_8487-OMIM_224690-HP_0000007-GENCC_100002"	"HGNC:8487"	"ORC1"	"MONDO:0009143"	"Meier-Gorlin syndrome 1"	"OMIM:224690"	"Meier-Gorlin syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8487"	"ORC1"	"OMIM:224690"	"Meier-Gorlin syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"121412, 21358632, 21358633, 22333897, 22855792, 23516378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ORC10MeierGorlin"	"2023-11-30"
"GENCC_000106-HGNC_8515-OMIM_601071-HP_0000007-GENCC_100002"	"HGNC:8515"	"OTOF"	"MONDO:0010986"	"autosomal recessive nonsyndromic hearing loss 9"	"OMIM:601071"	"Deafness, autosomal recessive 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8515"	"OTOF"	"OMIM:601071"	"autosomal recessive nonsyndromic hearing loss 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-30 23:53:18"	""	""	"11483641, 12114484, 14635104, 16283880, 18381613, 19250381, 26226137, 280138, 282132"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTOF0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_25402-OMIM_301056-HP_0001417-GENCC_100002"	"HGNC:25402"	"OTUD5"	"MONDO:0025351"	"multiple congenital anomalies-neurodevelopmental syndrome, X-linked"	"OMIM:301056"	"Multiple congenital anomalies-neurodevelopmental syndrome, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:25402"	"OTUD5"	"OMIM:301056"	"multiple congenital anomalies-neurodevelopmental syndrome, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:59"	""	""	"29302074, 33131077, 33523931, 33748114"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTUD50LINKED"	"2023-11-30"
"GENCC_000106-HGNC_15804-OMIM_122000-HP_0000006-GENCC_100002"	"HGNC:15804"	"OVOL2"	"MONDO:0007378"	"posterior polymorphous corneal dystrophy 1"	"OMIM:122000"	"Corneal dystrophy, posterior polymorphous, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15804"	"OVOL2"	"OMIM:122000"	"posterior polymorphous corneal dystrophy 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:06:38"	""	""	"26749309, 28046031"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OVOL20CorEndDys"	"2023-11-30"
"GENCC_000106-HGNC_18124-OMIM_609821-HP_0000007-GENCC_100002"	"HGNC:18124"	"P2RY12"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"OMIM:609821"	"Bleeding disorder, platelet-type, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18124"	"P2RY12"	"OMIM:609821"	"platelet-type bleeding disorder 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:08"	""	""	"12578987, 16194207, 19229056, 24612435, 25428217"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"P2RY120P2Y12def"	"2023-11-30"
"GENCC_000106-HGNC_8548-OMIM_112240-HP_0000006-GENCC_100002"	"HGNC:8548"	"P4HB"	"MONDO:0007204"	"Cole-Carpenter syndrome 1"	"OMIM:112240"	"Cole-Carpenter syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8548"	"P4HB"	"OMIM:112240"	"Cole-Carpenter syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:30"	""	""	"10842295, 25683117, 29384951, 30063094, 30913006, 30948499, 3794889"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"P4HB0ColeCarpenter"	"2023-11-30"
"GENCC_000106-HGNC_23794-OMIM_618067-HP_0000006-GENCC_100002"	"HGNC:23794"	"PACS2"	"MONDO:0054845"	"developmental and epileptic encephalopathy, 66"	"OMIM:618067"	"Developmental and epileptic encephalopathy 66"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23794"	"PACS2"	"OMIM:618067"	"developmental and epileptic encephalopathy, 66"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-13 07:22:21"	""	""	"28628100, 28867141, 29656858, 30684285, 30904718, 31036916, 31231135, 32416568, 33243487, 33369122, 34405643, 34894068, 35770754, 36645641, 37189870"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PACS20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_8574-OMIM_607432-HP_0000006-GENCC_100002"	"HGNC:8574"	"PAFAH1B1"	"MONDO:0011830"	"lissencephaly due to LIS1 mutation"	"OMIM:607432"	"Lissencephaly 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8574"	"PAFAH1B1"	"OMIM:607432"	"subcortical band heterotopia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:20:34"	""	""	"10441340, 11115846, 111158486, 14581661, 1671808, 19667223, 19808989, 25140959, 29671837, 30100227, 30144370, 9063735, 9697693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAFAH1B10Liss0Spectrum"	"2023-11-30"
"GENCC_000106-HGNC_8590-OMIM_618158-HP_0000006-GENCC_100002"	"HGNC:8590"	"PAK1"	"MONDO:0032568"	"intellectual developmental disorder with macrocephaly, seizures, and speech delay"	"OMIM:618158"	"Intellectual developmental disorder with macrocephaly, seizures, and speech delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8590"	"PAK1"	"OMIM:618158"	"intellectual developmental disorder with macrocephaly, seizures, and speech delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 19:00:56"	""	""	"30290153, 31392718, 31504246, 32005903"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAK10PAK1rel"	"2023-11-30"
"GENCC_000106-HGNC_26144-OMIM_610832-HP_0000007-GENCC_100002"	"HGNC:26144"	"PALB2"	"MONDO:0012565"	"Fanconi anemia complementation group N"	"OMIM:610832"	"Fanconi anemia, complementation group N"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26144"	"PALB2"	"OMIM:610832"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-11 18:49:22"	""	""	"17200671, 17200672, 17287723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PALB20Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_8599-OMIM_618550-HP_0000006-GENCC_100002"	"HGNC:8599"	"PANX1"	"MONDO:0032810"	"oocyte maturation defect 7"	"OMIM:618550"	"Oocyte/zygote/embryo maturation arrest 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8599"	"PANX1"	"OMIM:618550"	"oocyte maturation defect 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-05 14:20:27"	""	""	"30918116"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PANX10FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_8609-OMIM_616353-HP_0000007-GENCC_100002"	"HGNC:8609"	"PARN"	"MONDO:0014600"	"dyskeratosis congenita, autosomal recessive 6"	"OMIM:616353"	"Dyskeratosis congenita, autosomal recessive 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8609"	"PARN"	"OMIM:616353"	"dyskeratosis congenita"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-03 08:40:49"	""	""	"25893599, 26810774, 9736620"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PARN0DKC"	"2023-11-30"
"GENCC_000106-HGNC_8609-OMIM_616371-HP_0000006-GENCC_100002"	"HGNC:8609"	"PARN"	"MONDO:0014612"	"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4"	"OMIM:616371"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8609"	"PARN"	"OMIM:616371"	"idiopathic pulmonary fibrosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:24:38"	""	""	"25848748"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PARN0PulmFibr"	"2023-11-30"
"GENCC_000106-HGNC_8615-OMIM_615560-HP_0000007-GENCC_100002"	"HGNC:8615"	"PAX1"	"MONDO:0014254"	"otofaciocervical syndrome 2"	"OMIM:615560"	"Otofaciocervical syndrome 2 with T-cell deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8615"	"PAX1"	"OMIM:615560"	"otofaciocervical syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 09:15:29"	""	""	"12774041, 1889089, 23851939, 28657137, 29681087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX10OFC"	"2023-11-30"
"GENCC_000106-HGNC_8616-OMIM_120330-HP_0000006-GENCC_100002"	"HGNC:8616"	"PAX2"	"MONDO:0007352"	"renal coloboma syndrome"	"OMIM:120330"	"Papillorenal syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8616"	"PAX2"	"OMIM:120330"	"renal coloboma syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-28 17:16:35"	""	""	"11461952, 21380624, 21654726, 22213154, 24429398, 24676634, 26571382, 27226968, 30241513, 31001663, 32604935, 35444690, 8943028"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX20Papillorenal"	"2023-11-30"
"GENCC_000106-HGNC_8619-OMIM_615545-HP_0000006-GENCC_100004"	"HGNC:8619"	"PAX5"	"MONDO:0014241"	"leukemia, acute lymphoblastic, susceptibility to, 3"	"OMIM:615545"	"{Leukemia, acute lymphoblastic, susceptibility to, 3}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8619"	"PAX5"	"OMIM:615545"	"precursor B-cell acute lymphoblastic leukemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-01-28 19:35:42"	""	""	"24013638, 24287434, 26782422, 33036026"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX50ALL"	"2023-11-30"
"GENCC_000106-HGNC_8654-OMIM_606054-HP_0000007-GENCC_100002"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"propionic acidemia"	"OMIM:606054"	"Propionicacidemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8654"	"PCCB"	"OMIM:606054"	"propionic acidemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-25 22:30:43"	""	""	"15464417"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCCB0PropionicAcidem02"	"2023-11-30"
"GENCC_000106-HGNC_12929-OMIM_618371-HP_0000006-GENCC_100002"	"HGNC:12929"	"PCGF2"	"MONDO:0032707"	"turnpenny-fry syndrome"	"OMIM:618371"	"Turnpenny-Fry syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12929"	"PCGF2"	"OMIM:618371"	"turnpenny-fry syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:31"	""	""	"25533962, 28135719, 28628100, 28867141, 30343942, 31036916, 31278258, 31785789, 34750959"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCGF20TurnpennyFry"	"2023-11-30"
"GENCC_000106-HGNC_8724-OMIM_261680-HP_0000007-GENCC_100002"	"HGNC:8724"	"PCK1"	"MONDO:0009866"	"phosphoenolpyruvate carboxykinase deficiency, cytosolic"	"OMIM:261680"	"Phosphoenolpyruvate carboxykinase deficiency, cytosolic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8724"	"PCK1"	"OMIM:261680"	"phosphoenolpyruvate carboxykinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 10:00:13"	""	""	"10938127, 16300682, 24863970, 26846157, 26971250, 27785616, 28216384, 29709712"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCK10PhosphoenolCarb"	"2023-11-30"
"GENCC_000106-HGNC_13406-OMIM_608027-HP_0000007-GENCC_100002"	"HGNC:13406"	"PCLO"	"MONDO:0011948"	"pontocerebellar hypoplasia type 3"	"OMIM:608027"	"Pontocerebellar hypoplasia, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13406"	"PCLO"	"OMIM:608027"	"pontocerebellar hypoplasia type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-25 13:02:43"	""	""	"20332206, 25832664, 30287594"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCLO0PCH"	"2023-11-30"
"GENCC_000106-HGNC_8729-OMIM_615919-HP_0000007-GENCC_100004"	"HGNC:8729"	"PCNA"	"MONDO:0014399"	"ataxia-telangiectasia-like disorder 2"	"OMIM:615919"	"?Ataxia-telangiectasia-like disorder 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8729"	"PCNA"	"OMIM:615919"	"ataxia-telangiectasia-like disorder 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-03 12:43:09"	""	""	"17664295, 24911150, 251410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCNA0?Ataxia-"	"2023-11-30"
"GENCC_000106-HGNC_8754-OMIM_608940-HP_0000007-GENCC_100002"	"HGNC:8754"	"PCYT1A"	"MONDO:0012160"	"spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	"OMIM:608940"	"Spondylometaphyseal dysplasia with cone-rod dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8754"	"PCYT1A"	"OMIM:608940"	"spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"15798219, 24387990, 24387991, 24889630"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCYT1A0SMD"	"2023-11-30"
"GENCC_000106-HGNC_8785-OMIM_613810-HP_0000007-GENCC_100002"	"HGNC:8785"	"PDE6A"	"MONDO:0013437"	"retinitis pigmentosa 43"	"OMIM:613810"	"Retinitis pigmentosa 43"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8785"	"PDE6A"	"OMIM:613810"	"retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-24 16:03:27"	""	""	"10393062, 18849587, 21039428, 22128245, 23847139, 7493036"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE6A0RP"	"2023-11-30"
"GENCC_000106-HGNC_8786-OMIM_163500-HP_0000006-GENCC_100002"	"HGNC:8786"	"PDE6B"	"MONDO:0008099"	"congenital stationary night blindness autosomal dominant 2"	"OMIM:163500"	"Night blindness, congenital stationary, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8786"	"PDE6B"	"OMIM:163500"	"congenital stationary night blindness autosomal dominant 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:31"	""	""	"12641462, 17044014, 19578023, 24760071, 28559085, 8075643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE6B0NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_8786-OMIM_613801-HP_0000007-GENCC_100002"	"HGNC:8786"	"PDE6B"	"MONDO:0013429"	"retinitis pigmentosa 40"	"OMIM:613801"	"Retinitis pigmentosa-40"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8786"	"PDE6B"	"OMIM:613801"	"retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 21:45:33"	""	""	"22334370, 22968130, 24265693, 24938718, 25472526, 26667666, 30646425, 8394174, 8595886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE6B0RP"	"2023-11-30"
"GENCC_000106-HGNC_8787-OMIM_613093-HP_0000007-GENCC_100002"	"HGNC:8787"	"PDE6C"	"MONDO:0013129"	"cone dystrophy 4"	"OMIM:613093"	"Cone dystrophy 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8787"	"PDE6C"	"OMIM:613093"	"cone dystrophy 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-12 20:30:37"	""	""	"19887631, 21127010, 23776498, 26103963, 31106028, 32913385"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE6C0RetConeDys"	"2023-11-30"
"GENCC_000106-HGNC_8790-OMIM_610024-HP_0000007-GENCC_100002"	"HGNC:8790"	"PDE6H"	"MONDO:0012398"	"retinal cone dystrophy 3A"	"OMIM:610024"	"Achromatopsia 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8790"	"PDE6H"	"OMIM:610024"	"achromatopsia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-29 08:35:16"	""	""	"22901948, 25739440, 27472364, 27479814"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE6H0Achromatopsia"	"2023-11-30"
"GENCC_000106-HGNC_8806-OMIM_312170-HP_0001417-GENCC_100002"	"HGNC:8806"	"PDHA1"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"OMIM:312170"	"Pyruvate dehydrogenase E1-alpha deficiency"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8806"	"PDHA1"	"OMIM:312170"	"pyruvate dehydrogenase E1-alpha deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 21:24:00"	""	""	"10679936, 21914562, 22896851, 312170"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDHA10PDHC"	"2023-11-30"
"GENCC_000106-HGNC_17759-OMIM_614651-HP_0000007-GENCC_100002"	"HGNC:17759"	"PDSS1"	"MONDO:0013837"	"deafness-encephaloneuropathy-obesity-valvulopathy syndrome"	"OMIM:614651"	"Coenzyme Q10 deficiency, primary, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17759"	"PDSS1"	"OMIM:614651"	"deafness-encephaloneuropathy-obesity-valvulopathy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-26 12:29:26"	""	""	"17332895, 22494076, 31683770"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDSS10CoQ10Def"	"2023-11-30"
"GENCC_000106-HGNC_23041-OMIM_614652-HP_0000007-GENCC_100002"	"HGNC:23041"	"PDSS2"	"MONDO:0013838"	"coenzyme Q10 deficiency, primary, 3"	"OMIM:614652"	"Coenzyme Q10 deficiency, primary, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23041"	"PDSS2"	"OMIM:614652"	"coenzyme Q10 deficiency, primary, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"17186472, 18437205, 23150520, 25349199, 29032433, 29127259"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDSS20CoQ10Def"	"2023-11-30"
"GENCC_000106-HGNC_6107-OMIM_606392-HP_0000006-GENCC_100002"	"HGNC:6107"	"PDX1"	"MONDO:0011667"	"maturity-onset diabetes of the young type 4"	"OMIM:606392"	"MODY, type IV"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6107"	"PDX1"	"OMIM:606392"	"maturity-onset diabetes of the young type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 16:37:07"	""	""	"20301620, 20621032, 23320570, 24097065, 9649577"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDX10MODY"	"2023-11-30"
"GENCC_000106-HGNC_8819-OMIM_618511-HP_0000007-GENCC_100002"	"HGNC:8819"	"PDXK"	"MONDO:0032792"	"neuropathy, hereditary motor and sensory, type VIc, with optic atrophy"	"OMIM:618511"	"Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8819"	"PDXK"	"OMIM:618511"	"neuropathy, hereditary motor and sensory, type VIc, with optic atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:12"	""	""	"31187503, 32522499"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDXK0PDXKrel"	"2023-11-30"
"GENCC_000106-HGNC_26257-OMIM_618003-HP_0000007-GENCC_100002"	"HGNC:26257"	"PDZD7"	"MONDO:0033201"	"hearing loss, autosomal recessive 57"	"OMIM:618003"	"Deafness, autosomal recessive 57"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26257"	"PDZD7"	"OMIM:618003"	"hearing loss, autosomal recessive 57"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-13 12:48:29"	""	""	"20440071, 26416264, 26849169, 29048736, 30622556, 6416264"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDZD70Deafness"	"2023-11-30"
"GENCC_000106-HGNC_8840-OMIM_170100-HP_0000007-GENCC_100002"	"HGNC:8840"	"PEPD"	"MONDO:0008221"	"prolidase deficiency"	"OMIM:170100"	"Prolidase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8840"	"PEPD"	"OMIM:170100"	"prolidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 16:27:59"	""	""	"10721675, 11260036, 12384772, 15309682, 17142620, 23516557, 25460580, 27385964, 445856, 8198124"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEPD0ProlidaseDef"	"2023-11-30"
"GENCC_000106-HGNC_40038-OMIM_220110-HP_0000007-GENCC_100002"	"HGNC:40038"	"PET100"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"OMIM:220110"	"Mitochondrial complex IV deficiency, nuclear type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:40038"	"PET100"	"OMIM:220110"	"cytochrome-c oxidase deficiency disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-23 08:57:27"	""	""	"24462369, 25293719, 31406627, 32313153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PET1000MC4def"	"2023-11-30"
"GENCC_000106-HGNC_25712-OMIM_615802-HP_0000007-GENCC_100002"	"HGNC:25712"	"PGAP1"	"MONDO:0014348"	"intellectual disability, autosomal recessive 42"	"OMIM:615802"	"Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25712"	"PGAP1"	"OMIM:615802"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"10529425, 17711852, 19593386, 23213481, 24784135, 25804403, 25823418, 26050939, 27848944"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PGAP10ID"	"2023-11-30"
"GENCC_000106-HGNC_8905-OMIM_614921-HP_0000007-GENCC_100002"	"HGNC:8905"	"PGM1"	"MONDO:0013968"	"PGM1-congenital disorder of glycosylation"	"OMIM:614921"	"Congenital disorder of glycosylation, type It"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8905"	"PGM1"	"OMIM:614921"	"PGM1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-31 15:27:02"	""	""	"22492991, 24499211"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PGM10PGM1CDG"	"2023-11-30"
"GENCC_000106-HGNC_8907-OMIM_615816-HP_0000007-GENCC_100002"	"HGNC:8907"	"PGM3"	"MONDO:0014353"	"immunodeficiency 23"	"OMIM:615816"	"Immunodeficiency 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8907"	"PGM3"	"OMIM:615816"	"immunodeficiency 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 08:27:32"	""	""	"17548465, 24589341, 24698316, 24931394"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PGM30PGM3CGD"	"2023-11-30"
"GENCC_000106-HGNC_20990-OMIM_618298-HP_0000006-GENCC_100002"	"HGNC:20990"	"PHACTR1"	"MONDO:0032663"	"developmental and epileptic encephalopathy, 70"	"OMIM:618298"	"Developmental and epileptic encephalopathy 70"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20990"	"PHACTR1"	"OMIM:618298"	"developmental and epileptic encephalopathy, 70"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:31"	""	""	"23033978, 28135719, 30256902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHACTR10WS"	"2023-11-30"
"GENCC_000106-HGNC_3182-OMIM_615414-HP_0000007-GENCC_100004"	"HGNC:3182"	"PHC1"	"MONDO:0014173"	"microcephaly 11, primary, autosomal recessive"	"OMIM:615414"	"?Microcephaly 11, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3182"	"PHC1"	"OMIM:615414"	"autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"16024804, 19749760, 23418038, 23418308, 30214071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHC10Seckel"	"2023-11-30"
"GENCC_000106-HGNC_18145-OMIM_301900-HP_0001417-GENCC_100002"	"HGNC:18145"	"PHF6"	"MONDO:0010537"	"Borjeson-Forssman-Lehmann syndrome"	"OMIM:301900"	"Borjeson-Forssman-Lehmann syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:18145"	"PHF6"	"OMIM:301900"	"Borjeson-Forssman-Lehmann syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-22 12:24:32"	""	""	"12415272, 14756673, 15994862, 26648834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHF60Borjeson"	"2023-11-30"
"GENCC_000106-HGNC_8923-OMIM_601815-HP_0000007-GENCC_100002"	"HGNC:8923"	"PHGDH"	"MONDO:0011152"	"PHGDH deficiency"	"OMIM:601815"	"Phosphoglycerate dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8923"	"PHGDH"	"OMIM:601815"	"PHGDH deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 17:16:04"	""	""	"11055895, 14645240, 19235232, 24836451, 25913727, 27161889"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHGDH0PhosphoglycDehy"	"2023-11-30"
"GENCC_000106-HGNC_15673-OMIM_617991-HP_0000006-GENCC_100002"	"HGNC:15673"	"PHIP"	"MONDO:0035133"	"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"	"OMIM:617991"	"Chung-Jansen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15673"	"PHIP"	"OMIM:617991"	"developmental delay, intellectual disability, obesity, and dysmorphic features"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-19 08:35:38"	""	""	"23033978, 26350204, 27900362, 29209020, 31167805, 31337854, 31345219, 32368696, 32801363, 35863899, 36843271"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHIP0ID"	"2023-11-30"
"GENCC_000106-HGNC_26270-OMIM_617146-HP_0000007-GENCC_100002"	"HGNC:26270"	"PIEZO2"	"MONDO:0014941"	"arthrogryposis, distal, with impaired proprioception and touch"	"OMIM:617146"	"Arthrogryposis, distal, with impaired proprioception and touch"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26270"	"PIEZO2"	"OMIM:617146"	"arthrogryposis, distal, with impaired proprioception and touch"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-27 14:28:02"	""	""	"27653382, 27843126, 30578100, 30941898"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIEZO20Arthrogryposis02"	"2023-11-30"
"GENCC_000106-HGNC_8957-OMIM_300868-HP_0001417-GENCC_100002"	"HGNC:8957"	"PIGA"	"MONDO:0010466"	"multiple congenital anomalies-hypotonia-seizures syndrome 2"	"OMIM:300868"	"Multiple congenital anomalies-hypotonia-seizures syndrome 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8957"	"PIGA"	"OMIM:300868"	"multiple congenital anomalies-hypotonia-seizures syndrome 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 04:35:05"	""	""	"22305531, 24357517, 24706016, 25473036, 26545172"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGA0MCAHypotonia"	"2023-11-30"
"GENCC_000106-HGNC_8964-OMIM_618010-HP_0000007-GENCC_100002"	"HGNC:8964"	"PIGH"	"MONDO:0060724"	"glycosylphosphatidylinositol biosynthesis defect 17"	"OMIM:618010"	"Glycosylphosphatidylinositol biosynthesis defect 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8964"	"PIGH"	"OMIM:618010"	"glycosylphosphatidylinositol biosynthesis defect 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-12 16:58:12"	""	""	"29573052, 29603516"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGH0PIGHrel"	"2023-11-30"
"GENCC_000106-HGNC_8965-OMIM_618879-HP_0000007-GENCC_100002"	"HGNC:8965"	"PIGK"	"MONDO:0030037"	"neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	"OMIM:618879"	"Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8965"	"PIGK"	"OMIM:618879"	"neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-25 14:07:56"	""	""	"32220290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGK0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_8967-OMIM_614080-HP_0000007-GENCC_100002"	"HGNC:8967"	"PIGN"	"MONDO:0013563"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"OMIM:614080"	"Multiple congenital anomalies-hypotonia-seizures syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8967"	"PIGN"	"OMIM:614080"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-17 13:38:08"	""	""	"21493957, 24253414, 24852103, 26394714, 27038415"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGN0MCAHypotonia"	"2023-11-30"
"GENCC_000106-HGNC_23215-OMIM_614749-HP_0000007-GENCC_100002"	"HGNC:23215"	"PIGO"	"MONDO:0013882"	"hyperphosphatasia with intellectual disability syndrome 2"	"OMIM:614749"	"Hyperphosphatasia with impaired intellectual development syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23215"	"PIGO"	"OMIM:614749"	"hyperphosphatasia with intellectual disability syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-12-02 15:09:22"	""	""	"22683086, 24049131, 24417746"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGO0HyperphosMR"	"2023-11-30"
"GENCC_000106-HGNC_3046-OMIM_617599-HP_0000007-GENCC_100002"	"HGNC:3046"	"PIGP"	"MONDO:0033364"	"developmental and epileptic encephalopathy, 55"	"OMIM:617599"	"Developmental and epileptic encephalopathy 55"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3046"	"PIGP"	"OMIM:617599"	"developmental and epileptic encephalopathy, 55"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-02 02:00:44"	""	""	"28334793, 31139695, 38444886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGP0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_14135-OMIM_618548-HP_0000007-GENCC_100002"	"HGNC:14135"	"PIGQ"	"MONDO:0032808"	"developmental and epileptic encephalopathy, 77"	"OMIM:618548"	"Multiple congenital anomalies-hypotonia-seizures syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14135"	"PIGQ"	"OMIM:618548"	"developmental and epileptic encephalopathy, 77"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:59:32"	""	""	"24463883, 25558065, 27513193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGQ0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_14937-OMIM_618143-HP_0000007-GENCC_100002"	"HGNC:14937"	"PIGS"	"MONDO:0029140"	"glycosylphosphatidylinositol biosynthesis defect 18"	"OMIM:618143"	"Developmental and epileptic encephalopathy 95"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14937"	"PIGS"	"OMIM:618143"	"glycosylphosphatidylinositol biosynthesis defect 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-11 19:57:38"	""	""	"29997391, 30269814, 32612635, 33410539"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGS0PIGSrel"	"2023-11-30"
"GENCC_000106-HGNC_14938-OMIM_615398-HP_0000007-GENCC_100002"	"HGNC:14938"	"PIGT"	"MONDO:0014165"	"multiple congenital anomalies-hypotonia-seizures syndrome 3"	"OMIM:615398"	"Multiple congenital anomalies-hypotonia-seizures syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14938"	"PIGT"	"OMIM:615398"	"multiple congenital anomalies-hypotonia-seizures syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:43:14"	""	""	"20562862, 23636107, 24906948, 25943031"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGT0MCAHypotonia"	"2023-11-30"
"GENCC_000106-HGNC_26031-OMIM_239300-HP_0000007-GENCC_100002"	"HGNC:26031"	"PIGV"	"MONDO:0009398"	"hyperphosphatasia with intellectual disability syndrome 1"	"OMIM:239300"	"Hyperphosphatasia with impaired intellectual development syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26031"	"PIGV"	"OMIM:239300"	"hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-12 08:24:23"	""	""	"10092065, 120380, 121402, 121412, 20802478, 21739589, 22228761, 22315194, 24129430"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGV0HyperphosMR"	"2023-11-30"
"GENCC_000106-HGNC_23213-OMIM_616025-HP_0000007-GENCC_100002"	"HGNC:23213"	"PIGW"	"MONDO:0014457"	"hyperphosphatasia with intellectual disability syndrome 5"	"OMIM:616025"	"Glycosylphosphatidylinositol biosynthesis defect 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23213"	"PIGW"	"OMIM:616025"	"hyperphosphatasia-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-23 16:03:36"	""	""	"24367057, 27626616, 30078644, 30813920"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGW0HyperphosMR"	"2023-11-30"
"GENCC_000106-HGNC_8971-OMIM_618440-HP_0000007-GENCC_100002"	"HGNC:8971"	"PIK3C2A"	"MONDO:0034145"	"oculocerebrodental syndrome"	"OMIM:618440"	"Oculoskeletodental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8971"	"PIK3C2A"	"OMIM:618440"	"oculocerebrodental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:25:05"	""	""	"31034465"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3C2A0PIK3C2Arel"	"2023-11-30"
"GENCC_000106-HGNC_8977-OMIM_615513-HP_0000006-GENCC_100002"	"HGNC:8977"	"PIK3CD"	"MONDO:0014222"	"immunodeficiency 14"	"OMIM:615513"	"Immunodeficiency 14A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8977"	"PIK3CD"	"OMIM:615513"	"activated PI3K-delta syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-24 18:08:49"	""	""	"12130661, 24136356, 24165795, 29535736"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3CD0APDS"	"2023-11-30"
"GENCC_000106-HGNC_8979-OMIM_615214-HP_0000007-GENCC_100002"	"HGNC:8979"	"PIK3R1"	"MONDO:0014083"	"agammaglobulinemia 7, autosomal recessive"	"OMIM:615214"	"?Agammaglobulinemia 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8979"	"PIK3R1"	"OMIM:615214"	"agammaglobulinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"22351933"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3R10Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_8979-OMIM_269880-HP_0000006-GENCC_100002"	"HGNC:8979"	"PIK3R1"	"MONDO:0010026"	"SHORT syndrome"	"OMIM:269880"	"SHORT syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8979"	"PIK3R1"	"OMIM:269880"	"SHORT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 18:55:25"	""	""	"23810378, 23810382, 24886349, 27760312, 27766312"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3R10SHORT"	"2023-11-30"
"GENCC_000106-HGNC_8980-OMIM_603387-HP_0000006-GENCC_100002"	"HGNC:8980"	"PIK3R2"	"MONDO:0011313"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	"OMIM:603387"	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8980"	"PIK3R2"	"OMIM:603387"	"megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-25 10:02:37"	""	""	"22729224, 23745724, 26520804, 26860062, 28086757, 34170046"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3R20MPPH"	"2023-11-30"
"GENCC_000106-HGNC_14581-OMIM_605909-HP_0000007-GENCC_100002"	"HGNC:14581"	"PINK1"	"MONDO:0011613"	"autosomal recessive early-onset Parkinson disease 6"	"OMIM:605909"	"Parkinson disease 6, early onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14581"	"PINK1"	"OMIM:605909"	"young-onset Parkinson disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-07 15:43:15"	""	""	"15087508, 15349870, 16769864, 23776368, 26869347"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PINK10Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_8999-OMIM_618889-HP_0000007-GENCC_100002"	"HGNC:8999"	"PISD"	"MONDO:0030045"	"Liberfarb syndrome"	"OMIM:618889"	"Liberfarb syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8999"	"PISD"	"OMIM:618889"	"Liberfarb syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-26 12:53:34"	""	""	"30488656, 30858161, 31263216"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PISD0PISDrel"	"2023-11-30"
"GENCC_000106-HGNC_21043-OMIM_600977-HP_0000006-GENCC_100002"	"HGNC:21043"	"PITPNM3"	"MONDO:0010969"	"cone-rod dystrophy 5"	"OMIM:600977"	"Cone-rod dystrophy 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21043"	"PITPNM3"	"OMIM:600977"	"cone-rod dystrophy 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:32"	""	""	"17377520, 20590364, 22405330, 23820044, 24123792, 25356976, 25363768, 25472526, 27160483, 28191890, 29176531, 6371601"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITPNM30ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_9004-OMIM_186550-HP_0000006-GENCC_100004"	"HGNC:9004"	"PITX1"	"MONDO:0008520"	"brachydactyly-elbow wrist dysplasia syndrome"	"OMIM:186550"	"Liebenberg syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9004"	"PITX1"	"OMIM:186550"	"brachydactyly-elbow wrist dysplasia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-07-16 09:08:27"	""	""	"22258522, 23022097, 30711920"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITX10LiebenbergSyn"	"2023-11-30"
"GENCC_000106-HGNC_25123-OMIM_618821-HP_0000007-GENCC_100002"	"HGNC:25123"	"PKDCC"	"MONDO:0032935"	"rhizomelic limb shortening with dysmorphic features"	"OMIM:618821"	"Rhizomelic limb shortening with dysmorphic features"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25123"	"PKDCC"	"OMIM:618821"	"rhizomelic limb shortening with dysmorphic features"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 18:29:57"	""	""	"19097194, 30478137, 36896672"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKDCC0PKDCCrel"	"2023-11-30"
"GENCC_000106-HGNC_9024-OMIM_609040-HP_0000006-GENCC_100002"	"HGNC:9024"	"PKP2"	"MONDO:0012180"	"arrhythmogenic right ventricular dysplasia 9"	"OMIM:609040"	"Arrhythmogenic right ventricular dysplasia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9024"	"PKP2"	"OMIM:609040"	"familial isolated arrhythmogenic right ventricular dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-02 18:11:24"	""	""	"15489853, 20716751, 21859740, 23911551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKP20ArrhythCardiomy"	"2023-11-30"
"GENCC_000106-HGNC_15836-OMIM_244200-HP_0000006-GENCC_100002"	"HGNC:15836"	"PROKR2"	"MONDO:0009482"	"hypogonadotropic hypogonadism 3 with or without anosmia"	"OMIM:244200"	"Hypogonadotropic hypogonadism 3 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15836"	"PROKR2"	"OMIM:244200"	"Kallmann syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-13 22:56:18"	""	""	"17054399, 18826963, 20022991, 21454486, 22035731, 23643382, 24830383, 29161432, 33983622"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROKR20Kallmann"	"2023-11-30"
"GENCC_000106-HGNC_9456-OMIM_612336-HP_0000006-GENCC_100002"	"HGNC:9456"	"PROS1"	"MONDO:0012868"	"thrombophilia due to protein S deficiency, autosomal dominant"	"OMIM:612336"	"Thrombophilia 5 due to protein S deficiency, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9456"	"PROS1"	"OMIM:612336"	"hereditary thrombophilia due to congenital protein S deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 13:33:55"	""	""	"9241758, 9746774"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROS10PROS1Def"	"2023-11-30"
"GENCC_000106-HGNC_10597-OMIM_243000-HP_0000007-GENCC_100002"	"HGNC:10597"	"SCN9A"	"MONDO:0009459"	"channelopathy-associated congenital insensitivity to pain, autosomal recessive"	"OMIM:243000"	"Neuropathy, hereditary sensory and autonomic, type IID"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10597"	"SCN9A"	"OMIM:243000"	"hereditary sensory and autonomic neuropathy type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-27 19:43:18"	""	""	"17470132, 19304393, 23596073, 25995458"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN9A0HSAN"	"2023-11-30"
"GENCC_000106-HGNC_10599-OMIM_264350-HP_0000007-GENCC_100002"	"HGNC:10599"	"SCNN1A"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"OMIM:264350"	"Pseudohypoaldosteronism, type IB1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10599"	"SCNN1A"	"OMIM:264350"	"pseudohypoaldosteronism type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 16:38:46"	""	""	"10403853, 23416952, 26701978"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCNN1A0PHA"	"2023-11-30"
"GENCC_000106-HGNC_10600-OMIM_264350-HP_0000007-GENCC_100002"	"HGNC:10600"	"SCNN1B"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"OMIM:264350"	"Pseudohypoaldosteronism, type IB1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10600"	"SCNN1B"	"OMIM:264350"	"pseudohypoaldosteronism type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:26"	""	""	"10403853, 12107247, 12107427, 18424465, 23426840, 251370, 26807262"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCNN1B0PHA"	"2023-11-30"
"GENCC_000106-HGNC_10600-OMIM_177200-HP_0000006-GENCC_100002"	"HGNC:10600"	"SCNN1B"	"MONDO:0020607"	"Liddle syndrome 1"	"OMIM:177200"	"Liddle syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10600"	"SCNN1B"	"OMIM:177200"	"Liddle syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:26"	""	""	"15483078, 7777572, 7954808, 9794716"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCNN1B0LiddleSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_10602-OMIM_618114-HP_0000006-GENCC_100002"	"HGNC:10602"	"SCNN1G"	"MONDO:0020854"	"Liddle syndrome 2"	"OMIM:618114"	"Liddle syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10602"	"SCNN1G"	"OMIM:618114"	"Liddle syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 09:50:22"	""	""	"11228173, 17634077, 20376790, 26075967, 29204651, 7550319, 7777572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCNN1G0LiddleSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_10602-OMIM_264350-HP_0000007-GENCC_100002"	"HGNC:10602"	"SCNN1G"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"OMIM:264350"	"Pseudohypoaldosteronism, type IB1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10602"	"SCNN1G"	"OMIM:264350"	"pseudohypoaldosteronism type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-12-02 14:41:51"	""	""	"11231969, 18424465, 27485500, 29371419, 29582446, 8640238, 8824886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCNN1G0PHA"	"2023-11-30"
"GENCC_000106-HGNC_10606-OMIM_613724-HP_0000007-GENCC_100002"	"HGNC:10606"	"SCP2"	"MONDO:0013391"	"sterol carrier protein 2 deficiency"	"OMIM:613724"	"?Leukoencephalopathy with dystonia and motor neuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10606"	"SCP2"	"OMIM:613724"	"sterol carrier protein 2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"16685654, 22446031, 26497993, 28033445, 9553048"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCP20Leukoeneph"	"2023-11-30"
"GENCC_000106-HGNC_13655-OMIM_619184-HP_0000007-GENCC_100002"	"HGNC:13655"	"SCUBE3"	"MONDO:0030953"	"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2"	"OMIM:619184"	"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13655"	"SCUBE3"	"OMIM:619184"	"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:02"	""	""	"27815347, 30367527, 31848748, 33308444"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCUBE30SCUBE3rel"	"2023-11-30"
"GENCC_000106-HGNC_19286-OMIM_618766-HP_0000007-GENCC_100002"	"HGNC:19286"	"SCYL2"	"MONDO:0032903"	"arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum"	"OMIM:618766"	"Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19286"	"SCYL2"	"OMIM:618766"	"arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:26"	""	""	"26203146, 29437892, 30125339, 31960134"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCYL20SCYL2rel"	"2023-11-30"
"GENCC_000106-HGNC_10681-OMIM_619224-HP_0000007-GENCC_100002"	"HGNC:10681"	"SDHB"	"MONDO:0030974"	"mitochondrial complex 2 deficiency, nuclear type 4"	"OMIM:619224"	"Mitochondrial complex II deficiency, nuclear type 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10681"	"SDHB"	"OMIM:619224"	"mitochondrial complex 2 deficiency, nuclear type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:26"	""	""	"22972948, 26642834, 26925370, 27604842"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHB0ComplexIIDef"	"2023-11-30"
"GENCC_000106-HGNC_10683-OMIM_252011-HP_0000007-GENCC_100002"	"HGNC:10683"	"SDHD"	"MONDO:0100294"	"mitochondrial complex II deficiency, nuclear type 1"	"OMIM:252011"	"Mitochondrial complex II deficiency, nuclear type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10683"	"SDHD"	"OMIM:252011"	"mitochondrial complex II deficiency, nuclear type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-22 10:41:54"	""	""	"19584903, 21348866, 24367056, 26008905, 34012134, 35060925"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHD0ComplexIIDef"	"2023-11-30"
"GENCC_000106-HGNC_29958-OMIM_617574-HP_0000007-GENCC_100002"	"HGNC:29958"	"SDR9C7"	"MONDO:0033092"	"ichthyosis, congenital, autosomal recessive 13"	"OMIM:617574"	"Ichthyosis, congenital, autosomal recessive 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29958"	"SDR9C7"	"OMIM:617574"	"ichthyosis, congenital, autosomal recessive 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-12 08:05:36"	""	""	"28112794, 28173123, 28369735, 28906551, 31671075"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDR9C70ARCI"	"2023-11-30"
"GENCC_000106-HGNC_10701-OMIM_607812-HP_0000007-GENCC_100004"	"HGNC:10701"	"SEC23A"	"MONDO:0011911"	"craniolenticulosutural dysplasia"	"OMIM:607812"	"Craniolenticulosutural dysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10701"	"SEC23A"	"OMIM:607812"	"Craniolenticulosutural dysplasia"	"HP:0000007"	"Autosomal Recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-01-11 01:54:04"	""	""	"21039434, 16980979, 27148587, 17981132"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/775"	"SEC23A0CranioLenticulo"	"2022-02-03"
"GENCC_000106-HGNC_10702-OMIM_616858-HP_0000006-GENCC_100004"	"HGNC:10702"	"SEC23B"	"MONDO:0014802"	"Cowden syndrome 7"	"OMIM:616858"	"?Cowden syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10702"	"SEC23B"	"OMIM:616858"	"Cowden disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-22 12:43:08"	""	""	"26522472"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEC23B0CS"	"2023-11-30"
"GENCC_000106-HGNC_10702-OMIM_224100-HP_0000007-GENCC_100002"	"HGNC:10702"	"SEC23B"	"MONDO:0009134"	"congenital dyserythropoietic anemia type 2"	"OMIM:224100"	"Dyserythropoietic anemia, congenital, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10702"	"SEC23B"	"OMIM:224100"	"congenital dyserythropoietic anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-02 17:15:29"	""	""	"19561605, 20015893, 25044164"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEC23B0Dyseryth-2"	"2023-11-30"
"GENCC_000106-HGNC_10706-OMIM_616294-HP_0000007-GENCC_100002"	"HGNC:10706"	"SEC24D"	"MONDO:0014573"	"Cole-Carpenter syndrome 2"	"OMIM:616294"	"Cole-Carpenter syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10706"	"SEC24D"	"OMIM:616294"	"Cole-Carpenter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:30:45"	""	""	"23596517, 25683121, 26467156, 27942778, 30462379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEC24D0ColeCarpenter"	"2023-11-30"
"GENCC_000106-HGNC_18276-OMIM_617056-HP_0000006-GENCC_100002"	"HGNC:18276"	"SEC61A1"	"MONDO:0014891"	"hyperuricemic nephropathy, familial juvenile type 4"	"OMIM:617056"	"Tubulointerstitial kidney disease, autosomal dominant, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18276"	"SEC61A1"	"OMIM:617056"	"hyperuricemic nephropathy, familial juvenile type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 20:45:55"	""	""	"19934005, 27392076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEC61A10ADTKD"	"2023-11-30"
"GENCC_000106-HGNC_21082-OMIM_617004-HP_0000006-GENCC_100002"	"HGNC:21082"	"SEC63"	"MONDO:0014860"	"polycystic liver disease 2"	"OMIM:617004"	"Polycystic liver disease 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21082"	"SEC63"	"OMIM:617004"	"polycystic liver disease 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:26"	""	""	"15133510, 20095989, 282716, 28375157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEC630Polycyst"	"2023-11-30"
"GENCC_000106-HGNC_10723-OMIM_614897-HP_0000006-GENCC_100002"	"HGNC:10723"	"SEMA3A"	"MONDO:0013961"	"hypogonadotropic hypogonadism 16 with or without anosmia"	"OMIM:614897"	"{Hypogonadotropic hypogonadism 16 with or without anosmia}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10723"	"SEMA3A"	"OMIM:614897"	"hypogonadotropic hypogonadism 16 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:26"	""	""	"22416012, 22927827, 24124006, 25077900, 28075028, 28295047, 29419413, 29432577, 30098700"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEMA3A0Kallmann"	"2023-11-30"
"GENCC_000106-HGNC_10739-OMIM_618876-HP_0000006-GENCC_100002"	"HGNC:10739"	"SEMA6B"	"MONDO:0030034"	"epilepsy, progressive myoclonic, 11"	"OMIM:618876"	"Epilepsy, progressive myoclonic, 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10739"	"SEMA6B"	"OMIM:618876"	"epilepsy, progressive myoclonic, 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 21:28:19"	""	""	"32169168, 35604360"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEMA6B0PME"	"2023-11-30"
"GENCC_000106-HGNC_1540-OMIM_611489-HP_0000007-GENCC_100002"	"HGNC:1540"	"SERPINA6"	"MONDO:0012675"	"corticosteroid-binding globulin deficiency"	"OMIM:611489"	"Corticosteroid-binding globulin deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1540"	"SERPINA6"	"OMIM:611489"	"corticosteroid-binding globulin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-25 14:39:31"	""	""	"11502797, 20610591, 21795453, 22013108, 22948765"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINA60SERPINA6rel"	"2023-11-30"
"GENCC_000106-HGNC_775-OMIM_613118-HP_0000006-GENCC_100002"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"OMIM:613118"	"Thrombophilia 7 due to antithrombin III deficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:775"	"SERPINC1"	"OMIM:613118"	"hereditary antithrombin deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-08 21:07:21"	""	""	"11018075, 14347873, 19139080, 21264449, 8958394, 9065991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINC10AT3Def"	"2023-11-30"
"GENCC_000106-HGNC_775-OMIM_613118-HP_0000007-GENCC_100002"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"OMIM:613118"	"Thrombophilia 7 due to antithrombin III deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:775"	"SERPINC1"	"OMIM:613118"	"hereditary antithrombin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-08 21:07:21"	""	""	"21264449, 8958394"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINC10AT3Def02"	"2023-11-30"
"GENCC_000106-HGNC_9075-OMIM_262850-HP_0000007-GENCC_100002"	"HGNC:9075"	"SERPINF2"	"MONDO:0009883"	"alpha-2-plasmin inhibitor deficiency"	"OMIM:262850"	"Alpha-2-plasmin inhibitor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9075"	"SERPINF2"	"OMIM:262850"	"alpha-2-plasmin inhibitor deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:58"	""	""	"10959705, 11472338, 14999928, 29656168, 31282989, 31441040, 31577375"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINF20Alpha-2-02"	"2023-11-30"
"GENCC_000106-HGNC_1546-OMIM_613848-HP_0000007-GENCC_100002"	"HGNC:1546"	"SERPINH1"	"MONDO:0013459"	"osteogenesis imperfecta type 10"	"OMIM:613848"	"Osteogenesis imperfecta, type X"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1546"	"SERPINH1"	"OMIM:613848"	"osteogenesis imperfecta"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-19 10:19:20"	""	""	"10995453, 20188343, 25510505, 26004778, 26692483, 27677223, 27838364, 29150909, 29520608, 31179625"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINH10OI"	"2023-11-30"
"GENCC_000106-HGNC_10760-OMIM_618106-HP_0000006-GENCC_100002"	"HGNC:10760"	"SET"	"MONDO:0020847"	"intellectual disability, autosomal dominant 58"	"OMIM:618106"	"Intellectual developmental disorder, autosomal dominant 58"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10760"	"SET"	"OMIM:618106"	"intellectual disability, autosomal dominant 58"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 17:55:28"	""	""	"25356899, 29688601, 29907757, 31238879, 31785789, 33287870, 33619735, 34008892, 34374989, 35599849"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SET0ID"	"2023-11-30"
"GENCC_000106-HGNC_15573-OMIM_269150-HP_0000006-GENCC_100002"	"HGNC:15573"	"SETBP1"	"MONDO:0010010"	"Schinzel-Giedion syndrome"	"OMIM:269150"	"Schinzel-Giedion midface retraction syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15573"	"SETBP1"	"OMIM:269150"	"Schinzel-Giedion syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 12:53:55"	""	""	"20436468, 21371013, 25663181, 31680123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETBP10SchinzelGiedion"	"2023-11-30"
"GENCC_000106-HGNC_29187-OMIM_619000-HP_0000006-GENCC_100002"	"HGNC:29187"	"SETD1B"	"MONDO:0033559"	"intellectual developmental disorder with seizures and language delay"	"OMIM:619000"	"Intellectual developmental disorder with seizures and language delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29187"	"SETD1B"	"OMIM:619000"	"intellectual developmental disorder with seizures and language delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-23 22:58:21"	""	""	"27106595, 29276005, 29322246, 31110234, 31440728, 344631"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETD1B0ID"	"2023-11-30"
"GENCC_000106-HGNC_25566-OMIM_615761-HP_0000006-GENCC_100002"	"HGNC:25566"	"SETD5"	"MONDO:0014336"	"intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"	"OMIM:615761"	"Intellectual developmental disorder, autosomal dominant 23"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25566"	"SETD5"	"OMIM:615761"	"intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:44:44"	""	""	"24680889, 25138099, 27375234, 28881385"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETD50ID"	"2023-11-30"
"GENCC_000106-HGNC_445-OMIM_602433-HP_0000006-GENCC_100002"	"HGNC:445"	"SETX"	"MONDO:0011223"	"amyotrophic lateral sclerosis type 4"	"OMIM:602433"	"Amyotrophic lateral sclerosis 4, juvenile"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:445"	"SETX"	"OMIM:602433"	"amyotrophic lateral sclerosis type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:37"	""	""	"12023320, 15106121, 21438761, 22088787, 24105744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETX0ALS"	"2023-11-30"
"GENCC_000106-HGNC_10778-OMIM_265900-HP_0000007-GENCC_100002"	"HGNC:10778"	"SFRP4"	"MONDO:0009943"	"Pyle disease"	"OMIM:265900"	"Pyle disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10778"	"SFRP4"	"OMIM:265900"	"Pyle disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-17 12:44:23"	""	""	"27355534"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SFRP40Pyle"	"2023-11-30"
"GENCC_000106-HGNC_16088-OMIM_615578-HP_0000007-GENCC_100002"	"HGNC:16088"	"SFXN4"	"MONDO:0014261"	"growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"	"OMIM:615578"	"Combined oxidative phosphorylation deficiency 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16088"	"SFXN4"	"OMIM:615578"	"growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"24119684, 31059822"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SFXN40OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_10806-OMIM_604286-HP_0000007-GENCC_100002"	"HGNC:10806"	"SGCB"	"MONDO:0011423"	"autosomal recessive limb-girdle muscular dystrophy type 2E"	"OMIM:604286"	"Muscular dystrophy, limb-girdle, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10806"	"SGCB"	"OMIM:604286"	"autosomal recessive limb-girdle muscular dystrophy type 2E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-06 11:18:50"	""	""	"15938573, 18285821"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SGCB0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_10807-OMIM_601287-HP_0000007-GENCC_100002"	"HGNC:10807"	"SGCD"	"MONDO:0011028"	"autosomal recessive limb-girdle muscular dystrophy type 2F"	"OMIM:601287"	"Muscular dystrophy, limb-girdle, autosomal recessive 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10807"	"SGCD"	"OMIM:601287"	"autosomal recessive limb-girdle muscular dystrophy type 2F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"10735275, 10838250, 8841194, 9832045"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SGCD0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_10808-OMIM_159900-HP_0000006-GENCC_100002"	"HGNC:10808"	"SGCE"	"MONDO:0008044"	"myoclonic dystonia 11"	"OMIM:159900"	"Dystonia-11, myoclonic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10808"	"SGCE"	"OMIM:159900"	"myoclonic dystonia 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 20:58:09"	""	""	"11528394, 15728306, 16227522, 17853490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SGCE0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_10820-OMIM_308240-HP_0001417-GENCC_100002"	"HGNC:10820"	"SH2D1A"	"MONDO:0024551"	"X-linked lymphoproliferative disease due to SH2D1A deficiency"	"OMIM:308240"	"Lymphoproliferative syndrome, X-linked, 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10820"	"SH2D1A"	"OMIM:308240"	"X-linked lymphoproliferative syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-22 21:41:27"	""	""	"11049992, 15711562, 1847089, 20926771, 9771704"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SH2D1A0EBVlymph"	"2023-11-30"
"GENCC_000106-HGNC_14294-OMIM_606232-HP_0000006-GENCC_100002"	"HGNC:14294"	"SHANK3"	"MONDO:0011652"	"Phelan-McDermid syndrome"	"OMIM:606232"	"Phelan-McDermid syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14294"	"SHANK3"	"OMIM:606232"	"Phelan-McDermid syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-06 00:02:26"	""	""	"17999366, 22573675, 23758760, 25188300, 29719671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHANK30PhelanMcDermid"	"2023-11-30"
"GENCC_000106-HGNC_10852-OMIM_619121-HP_0000007-GENCC_100002"	"HGNC:10852"	"SHMT2"	"MONDO:0030866"	"neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"	"OMIM:619121"	"Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10852"	"SHMT2"	"OMIM:619121"	"neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:26:50"	""	""	"33015733"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHMT20SHMT2rel"	"2023-11-30"
"GENCC_000106-HGNC_10853-OMIM_249700-HP_0001417-GENCC_100002"	"HGNC:10853"	"SHOX"	"MONDO:0009588"	"Langer mesomelic dysplasia"	"OMIM:249700"	"Langer mesomelic dysplasia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10853"	"SHOX"	"OMIM:249700"	"Langer mesomelic dysplasia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 16:08:42"	""	""	"12116254, 15214013, 16537395, 21454626, 23636926"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHOX0Langer"	"2023-11-30"
"GENCC_000106-HGNC_10853-OMIM_127300-HP_0001417-GENCC_100002"	"HGNC:10853"	"SHOX"	"MONDO:0007481"	"Leri-Weill dyschondrosteosis"	"OMIM:127300"	"Leri-Weill dyschondrosteosis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10853"	"SHOX"	"OMIM:127300"	"Leri-Weill dyschondrosteosis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-30 16:20:51"	""	""	"11403039, 15356038, 16537395, 17182655, 17911654, 21325865, 21454626, 22518848, 23636926, 9590292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHOX0LeriWeill"	"2023-11-30"
"GENCC_000106-HGNC_29215-OMIM_300434-HP_0001417-GENCC_100004"	"HGNC:29215"	"SHROOM4"	"MONDO:0010325"	"X-linked intellectual disability, Stocco dos Santos type"	"OMIM:300434"	"Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:29215"	"SHROOM4"	"OMIM:300434"	"X-linked intellectual disability, Stocco dos Santos type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-03 07:31:02"	""	""	"16249884, 20613765, 25356970, 25670966, 30630535"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHROOM40Stocco"	"2023-11-30"
"GENCC_000106-HGNC_11142-OMIM_616341-HP_0000006-GENCC_100002"	"HGNC:11142"	"SIK1"	"MONDO:0014595"	"developmental and epileptic encephalopathy, 30"	"OMIM:616341"	"Developmental and epileptic encephalopathy 30"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11142"	"SIK1"	"OMIM:616341"	"early myoclonic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-06 07:56:50"	""	""	"25839329, 26844205, 27966542"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIK10EpilepEnceph"	"2023-11-30"
"GENCC_000106-HGNC_10905-OMIM_619256-HP_0000007-GENCC_100004"	"HGNC:10905"	"SLC10A1"	"MONDO:0031003"	"hypercholanemia, familial, 2"	"OMIM:619256"	"Hypercholanemia, familial 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10905"	"SLC10A1"	"OMIM:619256"	"hypercholanemia, familial, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-11 12:42:25"	""	""	"24867799, 25193235, 28249272, 28283843, 29290974, 30377382, 30525015, 31661128, 33093374"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC10A10NTPdef"	"2023-11-30"
"GENCC_000106-HGNC_23088-OMIM_618363-HP_0000007-GENCC_100002"	"HGNC:23088"	"SLC10A7"	"MONDO:0032703"	"short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis"	"OMIM:618363"	"Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23088"	"SLC10A7"	"OMIM:618363"	"short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-04 14:19:22"	""	""	"29878199, 30082715, 31191616"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC10A70AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_10908-OMIM_206100-HP_0000007-GENCC_100002"	"HGNC:10908"	"SLC11A2"	"MONDO:0008787"	"microcytic anemia with liver iron overload"	"OMIM:206100"	"Anemia, hypochromic microcytic, with iron overload 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10908"	"SLC11A2"	"OMIM:206100"	"microcytic anemia with liver iron overload"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 11:28:43"	""	""	"1545009, 15459009, 16023393, 16160008, 1616008, 16439678, 16584902, 19553145, 21871825, 22313374, 29178181, 9642100"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC11A20AnemFeOverload"	"2023-11-30"
"GENCC_000106-HGNC_10910-OMIM_601678-HP_0000007-GENCC_100002"	"HGNC:10910"	"SLC12A1"	"MONDO:0100344"	"Bartter disease type 1"	"OMIM:601678"	"Bartter syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10910"	"SLC12A1"	"OMIM:601678"	"Bartter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 09:25:52"	""	""	"10779555, 11893344, 19096086, 21865213, 8640224, 9585600"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC12A10Bartter"	"2023-11-30"
"GENCC_000106-HGNC_13818-OMIM_616645-HP_0000007-GENCC_100002"	"HGNC:13818"	"SLC12A5"	"MONDO:0014718"	"developmental and epileptic encephalopathy, 34"	"OMIM:616645"	"Developmental and epileptic encephalopathy 34"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13818"	"SLC12A5"	"OMIM:616645"	"malignant migrating partial seizures of infancy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 12:45:41"	""	""	"11395011, 12000122, 15813942, 16271048, 26333769, 27436767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC12A50EIEE"	"2023-11-30"
"GENCC_000106-HGNC_10914-OMIM_218000-HP_0000007-GENCC_100002"	"HGNC:10914"	"SLC12A6"	"MONDO:0000902"	"agenesis of the corpus callosum with peripheral neuropathy"	"OMIM:218000"	"Agenesis of the corpus callosum with peripheral neuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10914"	"SLC12A6"	"OMIM:218000"	"agenesis of the corpus callosum with peripheral neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 10:06:48"	""	""	"12368912, 16606917, 21628467"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC12A60ACCPN"	"2023-11-30"
"GENCC_000106-HGNC_23089-OMIM_615905-HP_0000007-GENCC_100002"	"HGNC:23089"	"SLC13A5"	"MONDO:0014392"	"developmental and epileptic encephalopathy, 25"	"OMIM:615905"	"Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23089"	"SLC13A5"	"OMIM:615905"	"undetermined early-onset epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:22:19"	""	""	"24995870, 26384929, 32551328"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC13A50EpilepEnceph"	"2023-11-30"
"GENCC_000106-HGNC_10922-OMIM_616095-HP_0000007-GENCC_100002"	"HGNC:10922"	"SLC16A1"	"MONDO:0014490"	"ketoacidosis due to monocarboxylate transporter-1 deficiency"	"OMIM:616095"	"Monocarboxylate transporter 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10922"	"SLC16A1"	"OMIM:616095"	"ketoacidosis due to monocarboxylate transporter-1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:55:46"	""	""	"25390740"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC16A10Monocarbox02"	"2023-11-30"
"GENCC_000106-HGNC_20151-OMIM_605583-HP_0000006-GENCC_100004"	"HGNC:20151"	"SLC17A8"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"OMIM:605583"	"Deafness, autosomal dominant 25"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20151"	"SLC17A8"	"OMIM:605583"	"Deafness, autosomal dominant 25"	"HP:0000006"	"Autosomal Dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-03-18 15:55:23"	""	""	"18674745, 18215623, 27068579, 28647561, 11115382, 23967202, 26797701, 27610647, 24082139, 26969326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/817"	"SLC17A80Deafness"	"2022-02-03"
"GENCC_000106-HGNC_10938-OMIM_249270-HP_0000007-GENCC_100002"	"HGNC:10938"	"SLC19A2"	"MONDO:0009575"	"thiamine-responsive megaloblastic anemia syndrome"	"OMIM:249270"	"Thiamine-responsive megaloblastic anemia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10938"	"SLC19A2"	"OMIM:249270"	"thiamine-responsive megaloblastic anemia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 13:24:21"	""	""	"10391221, 10391222, 10391223, 10874303"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC19A20ThiamineRespMAS"	"2023-11-30"
"GENCC_000106-HGNC_10939-OMIM_222730-HP_0000007-GENCC_100002"	"HGNC:10939"	"SLC1A1"	"MONDO:0009110"	"dicarboxylic aminoaciduria"	"OMIM:222730"	"Dicarboxylic aminoaciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10939"	"SLC1A1"	"OMIM:222730"	"dicarboxylic aminoaciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"21123949, 9233792"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC1A10Dicarbox"	"2023-11-30"
"GENCC_000106-HGNC_10975-OMIM_613830-HP_0000007-GENCC_100002"	"HGNC:10975"	"SLC24A1"	"MONDO:0013450"	"congenital stationary night blindness 1D"	"OMIM:613830"	"Night blindness, congenital stationary (complete), 1D, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10975"	"SLC24A1"	"OMIM:613830"	"congenital stationary night blindness 1D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-30 21:10:10"	""	""	"12037007, 20850105, 26246500, 26822852"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC24A10NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_10979-OMIM_615182-HP_0000007-GENCC_100002"	"HGNC:10979"	"SLC25A1"	"MONDO:0014072"	"D,L-2-hydroxyglutaric aciduria"	"OMIM:615182"	"Combined D-2- and L-2-hydroxyglutaric aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10979"	"SLC25A1"	"OMIM:615182"	"D,L-2-hydroxyglutaric aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"23561848, 26273529, 29238895"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A10D2L2Hydrox"	"2023-11-30"
"GENCC_000106-HGNC_10982-OMIM_612949-HP_0000007-GENCC_100002"	"HGNC:10982"	"SLC25A12"	"MONDO:0013056"	"developmental and epileptic encephalopathy, 39"	"OMIM:612949"	"Developmental and epileptic encephalopathy 39"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10982"	"SLC25A12"	"OMIM:612949"	"developmental and epileptic encephalopathy, 39"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:45:27"	""	""	"19641205, 20015484, 24515575, 26633542, 27290639, 31403263"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A120EIEE"	"2023-11-30"
"GENCC_000106-HGNC_19954-OMIM_609304-HP_0000007-GENCC_100002"	"HGNC:19954"	"SLC25A22"	"MONDO:0012245"	"developmental and epileptic encephalopathy, 3"	"OMIM:609304"	"Developmental and epileptic encephalopathy 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19954"	"SLC25A22"	"OMIM:609304"	"early myoclonic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-02 08:30:52"	""	""	"15592994, 19780765, 27864847, 28255779, 28454995, 31285529"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A220EIEE"	"2023-11-30"
"GENCC_000106-HGNC_20661-OMIM_616794-HP_0000007-GENCC_100002"	"HGNC:20661"	"SLC25A26"	"MONDO:0014775"	"combined oxidative phosphorylation deficiency 28"	"OMIM:616794"	"Combined oxidative phosphorylation deficiency 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20661"	"SLC25A26"	"OMIM:616794"	"combined oxidative phosphorylation deficiency 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-17 17:43:57"	""	""	"1914832, 26522469, 35024855"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A260OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_10990-OMIM_615418-HP_0000007-GENCC_100002"	"HGNC:10990"	"SLC25A4"	"MONDO:0014175"	"mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"	"OMIM:615418"	"Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10990"	"SLC25A4"	"OMIM:615418"	"mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"22187496, 23401503, 25732997"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A40MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_10994-OMIM_222600-HP_0000007-GENCC_100002"	"HGNC:10994"	"SLC26A2"	"MONDO:0009107"	"diastrophic dysplasia"	"OMIM:222600"	"Diastrophic dysplasia, broad bone-platyspondylic variant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10994"	"SLC26A2"	"OMIM:222600"	"diastrophic dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 11:04:44"	""	""	"10482955, 11241838, 15316973, 18925670, 21077202, 7923357"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC26A20DiastrophDys"	"2023-11-30"
"GENCC_000106-HGNC_3018-OMIM_214700-HP_0000007-GENCC_100002"	"HGNC:3018"	"SLC26A3"	"MONDO:0008964"	"congenital secretory chloride diarrhea 1"	"OMIM:214700"	"Diarrhea 1, secretory chloride, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3018"	"SLC26A3"	"OMIM:214700"	"congenital secretory chloride diarrhea 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:22:01"	""	""	"17001077, 19912155, 21394828, 9718329"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC26A30CongChlorDiarrh"	"2023-11-30"
"GENCC_000106-HGNC_8818-OMIM_274600-HP_0000007-GENCC_100002"	"HGNC:8818"	"SLC26A4"	"MONDO:0010134"	"Pendred syndrome"	"OMIM:274600"	"Pendred syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8818"	"SLC26A4"	"OMIM:274600"	"Pendred syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-16 17:40:19"	""	""	"22429511, 25394566, 26445815"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC26A40Pendred"	"2023-11-30"
"GENCC_000106-HGNC_14468-OMIM_606766-HP_0000006-GENCC_100004"	"HGNC:14468"	"SLC26A8"	"MONDO:0011720"	"spermatogenic failure 3"	"OMIM:606766"	"Spermatogenic failure 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14468"	"SLC26A8"	"OMIM:606766"	"non-syndromic male infertility due to sperm motility disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-04 09:36:01"	""	""	"17517695, 23582645, 251394, 280440, 282824"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC26A80Spermato03"	"2023-11-30"
"GENCC_000106-HGNC_23096-OMIM_602782-HP_0000007-GENCC_100002"	"HGNC:23096"	"SLC29A3"	"MONDO:0011273"	"H syndrome"	"OMIM:602782"	"Histiocytosis-lymphadenopathy plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23096"	"SLC29A3"	"OMIM:602782"	"H syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 07:43:46"	""	""	"18940313, 19336477, 20595384, 22238637, 23406517, 25963354"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC29A30HLPlus"	"2023-11-30"
"GENCC_000106-HGNC_11005-OMIM_606777-HP_0000007-GENCC_100002"	"HGNC:11005"	"SLC2A1"	"MONDO:0011724"	"encephalopathy due to GLUT1 deficiency"	"OMIM:606777"	"GLUT1 deficiency syndrome 1, infantile onset, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11005"	"SLC2A1"	"OMIM:606777"	"encephalopathy due to GLUT1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 15:44:56"	""	""	"10980529, 17052934, 20687207, 21069159, 24847886, 27957547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC2A10GLUT1def02"	"2023-11-30"
"GENCC_000106-HGNC_13444-OMIM_208050-HP_0000007-GENCC_100002"	"HGNC:13444"	"SLC2A10"	"MONDO:0008818"	"arterial tortuosity syndrome"	"OMIM:208050"	"Arterial tortuosity syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13444"	"SLC2A10"	"OMIM:208050"	"arterial tortuosity syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"17935213, 22488877, 23494979"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC2A100ArterialTortuos"	"2023-11-30"
"GENCC_000106-HGNC_11006-OMIM_227810-HP_0000007-GENCC_100002"	"HGNC:11006"	"SLC2A2"	"MONDO:0009216"	"glycogen storage disease due to GLUT2 deficiency"	"OMIM:227810"	"Fanconi-Bickel syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11006"	"SLC2A2"	"OMIM:227810"	"glycogen storage disease due to GLUT2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 13:18:23"	""	""	"11810292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC2A20FanconiBickel"	"2023-11-30"
"GENCC_000106-HGNC_25355-OMIM_613280-HP_0000007-GENCC_100002"	"HGNC:25355"	"SLC30A10"	"MONDO:0013208"	"cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome"	"OMIM:613280"	"Hypermanganesemia with dystonia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25355"	"SLC30A10"	"OMIM:613280"	"cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 18:11:55"	""	""	"22341971, 22341972, 25778823"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC30A100Hyperman"	"2023-11-30"
"GENCC_000106-HGNC_95-OMIM_614482-HP_0000007-GENCC_100002"	"HGNC:95"	"SLC33A1"	"MONDO:0013772"	"Huppke-Brendel syndrome"	"OMIM:614482"	"Huppke-Brendel syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:95"	"SLC33A1"	"OMIM:614482"	"congenital cataract-hearing loss-severe developmental delay syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"22243965, 27306358"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC33A10HuppkeBrendel"	"2023-11-30"
"GENCC_000106-HGNC_11019-OMIM_613388-HP_0000007-GENCC_100004"	"HGNC:11019"	"SLC34A1"	"MONDO:0013247"	"Fanconi renotubular syndrome 2"	"OMIM:613388"	"?Fanconi renotubular syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11019"	"SLC34A1"	"OMIM:613388"	"primary Fanconi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"20335586"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC34A10FanconiR"	"2023-11-30"
"GENCC_000106-HGNC_20305-OMIM_241530-HP_0000007-GENCC_100002"	"HGNC:20305"	"SLC34A3"	"MONDO:0009431"	"hereditary hypophosphatemic rickets with hypercalciuria"	"OMIM:241530"	"Hypophosphatemic rickets with hypercalciuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20305"	"SLC34A3"	"OMIM:241530"	"hereditary hypophosphatemic rickets with hypercalciuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-17 07:51:20"	""	""	"16358214, 16358215, 20074341, 22159077, 27939817"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC34A30HypophosRicket"	"2023-11-30"
"GENCC_000106-HGNC_11022-OMIM_300896-HP_0001417-GENCC_100002"	"HGNC:11022"	"SLC35A2"	"MONDO:0010478"	"SLC35A2-congenital disorder of glycosylation"	"OMIM:300896"	"Congenital disorder of glycosylation, type IIm"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11022"	"SLC35A2"	"OMIM:300896"	"congenital disorder of glycosylation type II"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:38:45"	""	""	"23561849, 24115232, 25262651, 25877686"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC35A20SLC35A2CDG"	"2023-11-30"
"GENCC_000106-HGNC_20197-OMIM_266265-HP_0000007-GENCC_100002"	"HGNC:20197"	"SLC35C1"	"MONDO:0009953"	"leukocyte adhesion deficiency type II"	"OMIM:266265"	"Congenital disorder of glycosylation, type IIc"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20197"	"SLC35C1"	"OMIM:266265"	"congenital disorder of glycosylation type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-14 10:46:49"	""	""	"11326279, 12406889, 16455955, 24403049"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC35C10LeukocyteAdhes"	"2023-11-30"
"GENCC_000106-HGNC_20858-OMIM_617013-HP_0000007-GENCC_100002"	"HGNC:20858"	"SLC39A14"	"MONDO:0014864"	"hypermanganesemia with dystonia 2"	"OMIM:617013"	"Hypermanganesemia with dystonia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20858"	"SLC39A14"	"OMIM:617013"	"hypermanganesemia with dystonia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-27 14:15:06"	""	""	"27231142, 27431290, 28541650"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC39A140Hyperman"	"2023-11-30"
"GENCC_000106-HGNC_11025-OMIM_220100-HP_0000007-GENCC_100002"	"HGNC:11025"	"SLC3A1"	"MONDO:0009067"	"cystinuria"	"OMIM:220100"	"Cystinuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11025"	"SLC3A1"	"OMIM:220100"	"cystinuria type A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 18:31:01"	""	""	"12239244, 15691362, 21863055, 24246330, 25109415, 25964309"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC3A10Cystinuria"	"2023-11-30"
"GENCC_000106-HGNC_18798-OMIM_618868-HP_0000007-GENCC_100002"	"HGNC:18798"	"SLC44A1"	"MONDO:0030028"	"neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline"	"OMIM:618868"	"Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18798"	"SLC44A1"	"OMIM:618868"	"neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-08 14:31:03"	""	""	"28097321, 31855247"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC44A10ID"	"2023-11-30"
"GENCC_000106-HGNC_13941-OMIM_617606-HP_0000006-GENCC_100004"	"HGNC:13941"	"SLC44A4"	"MONDO:0033259"	"hearing loss, autosomal dominant 72"	"OMIM:617606"	"?Deafness, autosomal dominant 72"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13941"	"SLC44A4"	"OMIM:617606"	"hearing loss, autosomal dominant 72"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-24 12:40:51"	""	""	"28013291, 28859437"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC44A40Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11027-OMIM_611590-HP_0000007-GENCC_100002"	"HGNC:11027"	"SLC4A1"	"MONDO:0012700"	"renal tubular acidosis, distal, 4, with hemolytic anemia"	"OMIM:611590"	"Distal renal tubular acidosis 4 with hemolytic anemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11027"	"SLC4A1"	"OMIM:611590"	"distal renal tubular acidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 12:38:15"	""	""	"10926824, 15211439, 25957428, 9854053"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A10RenalTubulAcid02"	"2023-11-30"
"GENCC_000106-HGNC_16438-OMIM_613268-HP_0000006-GENCC_100004"	"HGNC:16438"	"SLC4A11"	"MONDO:0013204"	"corneal dystrophy, Fuchs endothelial, 4"	"OMIM:613268"	"Corneal dystrophy, Fuchs endothelial, 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16438"	"SLC4A11"	"OMIM:613268"	"Fuchs' endothelial dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-28 20:43:45"	""	""	"18024964, 20625449, 2084855, 20848555, 22072594, 23585771, 24916015, 25007886, 28973083, 29327391, 31714402"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A110FuchsCornealDys"	"2023-11-30"
"GENCC_000106-HGNC_11030-OMIM_604278-HP_0000007-GENCC_100002"	"HGNC:11030"	"SLC4A4"	"MONDO:0011422"	"autosomal recessive proximal renal tubular acidosis"	"OMIM:604278"	"Proximal renal tubular acidosis-ocular anomaly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11030"	"SLC4A4"	"OMIM:604278"	"autosomal recessive proximal renal tubular acidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:35:29"	""	""	"11274232, 15085340, 21228764, 29914390"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A40RenalTubulAcid"	"2023-11-30"
"GENCC_000106-HGNC_14025-OMIM_617143-HP_0000007-GENCC_100002"	"HGNC:14025"	"SLC5A7"	"MONDO:0014939"	"congenital myasthenic syndrome 20"	"OMIM:617143"	"Myasthenic syndrome, congenital, 20, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14025"	"SLC5A7"	"OMIM:617143"	"presynaptic congenital myasthenic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-02 15:44:37"	""	""	"15173594, 27569547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC5A70CMS"	"2023-11-30"
"GENCC_000106-HGNC_14025-OMIM_158580-HP_0000006-GENCC_100002"	"HGNC:14025"	"SLC5A7"	"MONDO:0008024"	"neuronopathy, distal hereditary motor, type 7A"	"OMIM:158580"	"Neuronopathy, distal hereditary motor, autosomal dominant 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14025"	"SLC5A7"	"OMIM:158580"	"distal hereditary motor neuropathy type 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:38"	""	""	"23141292, 26786006"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC5A70HMN"	"2023-11-30"
"GENCC_000106-HGNC_11049-OMIM_613135-HP_0000007-GENCC_100002"	"HGNC:11049"	"SLC6A3"	"MONDO:0054835"	"classic dopamine transporter deficiency syndrome"	"OMIM:613135"	"Parkinsonism-dystonia, infantile, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11049"	"SLC6A3"	"OMIM:613135"	"classic dopamine transporter deficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:44:30"	""	""	"19478460, 21112253, 28749637"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC6A30Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_25807-OMIM_619191-HP_0000007-GENCC_100004"	"HGNC:25807"	"SLC7A6OS"	"MONDO:0030936"	"epilepsy, progressive myoclonic, 12"	"OMIM:619191"	"Epilepsy, progressive myoclonic, 12"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25807"	"SLC7A6OS"	"OMIM:619191"	"epilepsy, progressive myoclonic, 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:56"	""	""	"33085104"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC7A6OS0PME"	"2023-11-30"
"GENCC_000106-HGNC_11067-OMIM_220100-HP_0000007-GENCC_100002"	"HGNC:11067"	"SLC7A9"	"MONDO:0009067"	"cystinuria"	"OMIM:220100"	"Cystinuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11067"	"SLC7A9"	"OMIM:220100"	"cystinuria type A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:28"	""	""	"11157794, 24246330, 25685869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC7A90Cystinuria"	"2023-11-30"
"GENCC_000106-HGNC_11067-OMIM_220100-HP_0000006-GENCC_100002"	"HGNC:11067"	"SLC7A9"	"MONDO:0009067"	"cystinuria"	"OMIM:220100"	"Cystinuria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11067"	"SLC7A9"	"OMIM:220100"	"cystinuria type A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:28"	""	""	"11157794, 15635077, 16838140, 21255007, 25296721"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC7A90Cystinuria02"	"2023-11-30"
"GENCC_000106-HGNC_11071-OMIM_616291-HP_0000007-GENCC_100002"	"HGNC:11071"	"SLC9A1"	"MONDO:0014572"	"Lichtenstein-Knorr syndrome"	"OMIM:616291"	"Lichtenstein-Knorr syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11071"	"SLC9A1"	"OMIM:616291"	"Lichtenstein-Knorr syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:24"	""	""	"10199808, 25205112, 27513193, 30018422, 30237576, 9335342"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC9A10?Lichten"	"2023-11-30"
"GENCC_000106-HGNC_11075-OMIM_612287-HP_0000006-GENCC_100004"	"HGNC:11075"	"NHERF1"	"MONDO:0012851"	"hypophosphatemic nephrolithiasis/osteoporosis 2"	"OMIM:612287"	"Nephrolithiasis/osteoporosis, hypophosphatemic, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11075"	"NHERF1"	"OMIM:612287"	"dominant hypophosphatemia with nephrolithiasis or osteoporosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-11 09:00:08"	""	""	"18784102, 31821448, 36596813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC9A3R10nephrolithiasis"	"2023-11-30"
"GENCC_000106-HGNC_23845-OMIM_613951-HP_0000007-GENCC_100002"	"HGNC:23845"	"SLX4"	"MONDO:0013499"	"Fanconi anemia complementation group P"	"OMIM:613951"	"Fanconi anemia, complementation group P"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23845"	"SLX4"	"OMIM:613951"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"21240275, 21240277, 23033263"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLX40Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_6774-OMIM_615342-HP_0000006-GENCC_100002"	"HGNC:6774"	"SMAD9"	"MONDO:0014134"	"pulmonary hypertension, primary, 2"	"OMIM:615342"	"Pulmonary hypertension, primary, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6774"	"SMAD9"	"OMIM:615342"	"primary pulmonary hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-20 15:01:23"	""	""	"19211612, 19419974, 21920918, 26820968, 29650961, 31727138"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD90PulmHypertens"	"2023-11-30"
"GENCC_000106-HGNC_11098-OMIM_601358-HP_0000006-GENCC_100002"	"HGNC:11098"	"SMARCA2"	"MONDO:0011053"	"intellectual disability-sparse hair-brachydactyly syndrome"	"OMIM:601358"	"Nicolaides-Baraitser syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11098"	"SMARCA2"	"OMIM:601358"	"intellectual disability-sparse hair-brachydactyly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 19:33:26"	""	""	"10521304, 19363039, 22366787, 22822383, 23815551, 23906836, 23929686, 25169058, 31375262, 8232556, 8871545, 9843504"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCA20NicolaidBaraits"	"2023-11-30"
"GENCC_000106-HGNC_11105-OMIM_618362-HP_0000006-GENCC_100002"	"HGNC:11105"	"SMARCC2"	"MONDO:0032702"	"Coffin-Siris syndrome 8"	"OMIM:618362"	"Coffin-Siris syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11105"	"SMARCC2"	"OMIM:618362"	"Coffin-Siris syndrome 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-04 01:27:03"	""	""	"27620904, 30580808"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCC20ID"	"2023-11-30"
"GENCC_000106-HGNC_11106-OMIM_618779-HP_0000006-GENCC_100002"	"HGNC:11106"	"SMARCD1"	"MONDO:0032912"	"Coffin-Siris syndrome 11"	"OMIM:618779"	"Coffin-Siris syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11106"	"SMARCD1"	"OMIM:618779"	"Coffin-Siris syndrome 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:38"	""	""	"30879640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCD10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_11107-OMIM_617475-HP_0000007-GENCC_100002"	"HGNC:11107"	"SMARCD2"	"MONDO:0044208"	"specific granule deficiency 2"	"OMIM:617475"	"Specific granule deficiency 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11107"	"SMARCD2"	"OMIM:617475"	"specific granule deficiency 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 14:15:37"	""	""	"28369036, 33025377, 33279574"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCD20SpecificGranule"	"2023-11-30"
"GENCC_000106-HGNC_29090-OMIM_603457-HP_0000006-GENCC_100002"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"OMIM:603457"	"Bosma arhinia microphthalmia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29090"	"SMCHD1"	"OMIM:603457"	"arrhinia-choanal atresia-microphthalmia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-22 20:52:32"	""	""	"28067909, 28067911"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMCHD10BAMS"	"2023-11-30"
"GENCC_000106-HGNC_20318-OMIM_206920-HP_0000007-GENCC_100002"	"HGNC:20318"	"SMOC1"	"MONDO:0008800"	"microphthalmia with limb anomalies"	"OMIM:206920"	"Microphthalmia with limb anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20318"	"SMOC1"	"OMIM:206920"	"microphthalmia with limb anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-14 11:48:33"	""	""	"21194678, 21750680"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMOC10OAS"	"2023-11-30"
"GENCC_000106-HGNC_32949-OMIM_618622-HP_0000007-GENCC_100002"	"HGNC:32949"	"SMPD4"	"MONDO:0032838"	"neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	"OMIM:618622"	"Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32949"	"SMPD4"	"OMIM:618622"	"neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 19:24:01"	""	""	"31495489"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMPD40SMPD4-rel"	"2023-11-30"
"GENCC_000106-HGNC_11094-OMIM_172800-HP_0000006-GENCC_100002"	"HGNC:11094"	"SNAI2"	"MONDO:0008244"	"piebaldism"	"OMIM:172800"	"Piebaldism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11094"	"SNAI2"	"OMIM:172800"	"piebaldism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:28"	""	""	"12955764, 24443330"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNAI20Piebaldism"	"2023-11-30"
"GENCC_000106-HGNC_11094-OMIM_608890-HP_0000007-GENCC_100002"	"HGNC:11094"	"SNAI2"	"MONDO:0012144"	"Waardenburg syndrome type 2D"	"OMIM:608890"	"OMIM:608890"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11094"	"SNAI2"	"OMIM:608890"	"Waardenburg syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"12444107, 12955764, 17905753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNAI20Waardenburg"	"2023-11-30"
"GENCC_000106-HGNC_32952-OMIM_614561-HP_0000007-GENCC_100002"	"HGNC:32952"	"SNORD118"	"MONDO:0013803"	"leukoencephalopathy with calcifications and cysts"	"OMIM:614561"	"Leukoencephalopathy, brain calcifications, and cysts"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32952"	"SNORD118"	"OMIM:614561"	"leukoencephalopathy with calcifications and cysts"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"27571260, 28177126, 28748214, 29260032, 29970281, 29984895, 29984898, 29996189"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNORD1180Leukoeneph"	"2023-11-30"
"GENCC_000106-HGNC_30859-OMIM_610359-HP_0000006-GENCC_100002"	"HGNC:30859"	"SNRNP200"	"MONDO:0012477"	"retinitis pigmentosa 33"	"OMIM:610359"	"Retinitis pigmentosa 33"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30859"	"SNRNP200"	"OMIM:610359"	"retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:28"	""	""	"19710410, 19878916, 21618346, 23029027, 24302620, 2444401, 24938718, 27626380, 30029497"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNRNP2000RP"	"2023-11-30"
"GENCC_000106-HGNC_11768-OMIM_614816-HP_0000006-GENCC_100002"	"HGNC:11768"	"TGFB2"	"MONDO:0013897"	"Loeys-Dietz syndrome 4"	"OMIM:614816"	"Loeys-Dietz syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11768"	"TGFB2"	"OMIM:614816"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:20:40"	""	""	"22772368, 22772371, 24440784"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGFB20LoeysDietz"	"2023-11-30"
"GENCC_000106-HGNC_11784-OMIM_612926-HP_0000006-GENCC_100002"	"HGNC:11784"	"THBD"	"MONDO:0013044"	"atypical hemolytic-uremic syndrome with thrombomodulin anomaly"	"OMIM:612926"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 6}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11784"	"THBD"	"OMIM:612926"	"atypical hemolytic-uremic syndrome with thrombomodulin anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:40"	""	""	"19625716, 20513133, 23787556, 27064621"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THBD0HemolyticUremic"	"2023-11-30"
"GENCC_000106-HGNC_26053-OMIM_618800-HP_0000007-GENCC_100002"	"HGNC:26053"	"THG1L"	"MONDO:0032923"	"spinocerebellar ataxia, autosomal recessive 28"	"OMIM:618800"	"Spinocerebellar ataxia, autosomal recessive 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26053"	"THG1L"	"OMIM:618800"	"spinocerebellar ataxia, autosomal recessive 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-06 18:02:05"	""	""	"27307223, 28097321, 30214071, 31168944, 33682303"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THG1L0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_17754-OMIM_618734-HP_0000006-GENCC_100002"	"HGNC:17754"	"THSD1"	"MONDO:0032891"	"aneurysm, intracranial berry, 12"	"OMIM:618734"	"?Aneurysm, intracranial berry, 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17754"	"THSD1"	"OMIM:618734"	"aneurysm, intracranial berry, 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"27895300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THSD10IntracranAneur"	"2023-11-30"
"GENCC_000106-HGNC_18348-OMIM_614850-HP_0000007-GENCC_100002"	"HGNC:18348"	"TICAM1"	"MONDO:0013921"	"herpes simplex encephalitis, susceptibility to, 4"	"OMIM:614850"	"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18348"	"TICAM1"	"OMIM:614850"	"herpes simplex encephalitis, susceptibility to, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-09 09:21:43"	""	""	"20553844, 22105173, 26513235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TICAM10Herpes"	"2023-11-30"
"GENCC_000106-HGNC_18348-OMIM_614850-HP_0000006-GENCC_100004"	"HGNC:18348"	"TICAM1"	"MONDO:0013921"	"herpes simplex encephalitis, susceptibility to, 4"	"OMIM:614850"	"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18348"	"TICAM1"	"OMIM:614850"	"herpes simplex encephalitis, susceptibility to, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-09 09:21:43"	""	""	"22105173, 26513235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TICAM10Herpes02"	"2023-11-30"
"GENCC_000106-HGNC_11817-OMIM_304700-HP_0001417-GENCC_100002"	"HGNC:11817"	"TIMM8A"	"MONDO:0010578"	"deafness dystonia syndrome"	"OMIM:304700"	"Mohr-Tranebjaerg syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11817"	"TIMM8A"	"OMIM:304700"	"deafness dystonia syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-24 07:14:04"	""	""	"11601506, 11956200, 21984432, 22736418, 23418071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIMM8A0MohrTranebjaerg"	"2023-11-30"
"GENCC_000106-HGNC_1321-OMIM_618251-HP_0000007-GENCC_100002"	"HGNC:1321"	"TIMMDC1"	"MONDO:0032634"	"mitochondrial complex 1 deficiency, nuclear type 31"	"OMIM:618251"	"Mitochondrial complex I deficiency, nuclear type 31"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1321"	"TIMMDC1"	"OMIM:618251"	"mitochondrial complex 1 deficiency, nuclear type 31"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 13:39:40"	""	""	"28604674, 30981218, 33278652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIMMDC10TIMMDC1rel"	"2023-11-30"
"GENCC_000106-HGNC_30788-OMIM_616814-HP_0000007-GENCC_100002"	"HGNC:30788"	"TLE6"	"MONDO:0014783"	"preimplantation embryonic lethality 1"	"OMIM:616814"	"Oocyte/zygote/embryo maturation arrest 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30788"	"TLE6"	"OMIM:616814"	"preimplantation embryonic lethality 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-24 12:02:55"	""	""	"26537248, 29606347, 31897846, 32172300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TLE60FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_11842-OMIM_618050-HP_0000006-GENCC_100002"	"HGNC:11842"	"TLK2"	"MONDO:0054837"	"intellectual disability, autosomal dominant 57"	"OMIM:618050"	"Intellectual developmental disorder, autosomal dominant 57"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11842"	"TLK2"	"OMIM:618050"	"intellectual disability, autosomal dominant 57"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 14:02:50"	""	""	"23911319, 25849321, 27479843, 27694994, 29861108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TLK20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_26230-OMIM_615432-HP_0000006-GENCC_100004"	"HGNC:26230"	"TM4SF20"	"MONDO:0014184"	"specific language impairment 5"	"OMIM:615432"	"{Specific language impairment 5}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26230"	"TM4SF20"	"OMIM:615432"	"specific language impairment 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"23810381, 30029678, 34540591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TM4SF200TM4SF20rel"	"2023-11-30"
"GENCC_000106-HGNC_16513-OMIM_606705-HP_0000006-GENCC_100002"	"HGNC:16513"	"TMC1"	"MONDO:0011708"	"autosomal dominant nonsyndromic hearing loss 36"	"OMIM:606705"	"Deafness, autosomal dominant 36"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16513"	"TMC1"	"OMIM:606705"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-13 12:53:53"	""	""	"11850618, 11850623, 15354000, 19180119, 25388789"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSHL0DFNA36"	"2023-11-30"
"GENCC_000106-HGNC_16513-OMIM_600974-HP_0000007-GENCC_100002"	"HGNC:16513"	"TMC1"	"MONDO:0010967"	"autosomal recessive nonsyndromic hearing loss 7"	"OMIM:600974"	"Deafness, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16513"	"TMC1"	"OMIM:600974"	"autosomal recessive nonsyndromic hearing loss 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-18 17:22:15"	""	""	"11850618, 18616530, 21117948, 22105175, 249642, 251212, 26226137, 282730"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSHL0DFNB7"	"2023-11-30"
"GENCC_000106-HGNC_22407-OMIM_617964-HP_0000006-GENCC_100002"	"HGNC:22407"	"TMEM106B"	"MONDO:0054791"	"leukodystrophy, hypomyelinating, 16"	"OMIM:617964"	"Leukodystrophy, hypomyelinating, 16"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:22407"	"TMEM106B"	"OMIM:617964"	"leukodystrophy, hypomyelinating, 16"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 08:25:35"	""	""	"24357581, 27543298, 28728022, 29186371, 29444210, 30643851"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM106B0HLD"	"2023-11-30"
"GENCC_000106-HGNC_26991-OMIM_618481-HP_0000007-GENCC_100002"	"HGNC:26991"	"TMEM132E"	"MONDO:0032776"	"hearing loss, autosomal recessive 99"	"OMIM:618481"	"Deafness, autosomal recessive 99"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26991"	"TMEM132E"	"OMIM:618481"	"hearing loss, autosomal recessive 99"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-22 14:06:33"	""	""	"239240, 246942, 25331638, 31656313"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM132E0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_26944-OMIM_614465-HP_0000007-GENCC_100002"	"HGNC:26944"	"TMEM138"	"MONDO:0013764"	"Joubert syndrome 16"	"OMIM:614465"	"Joubert syndrome 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26944"	"TMEM138"	"OMIM:614465"	"Joubert syndrome 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22282472, 26489029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1380Joubert"	"2023-11-30"
"GENCC_000106-HGNC_18085-OMIM_616829-HP_0000007-GENCC_100002"	"HGNC:18085"	"VMA12"	"MONDO:0014790"	"TMEM199-CDG"	"OMIM:616829"	"Congenital disorder of glycosylation, type IIp"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18085"	"TMEM199"	"OMIM:616829"	"congenital disorder of glycosylation type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-27 15:16:30"	""	""	"26833330, 29321044"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1990TMEM199rel"	"2023-11-30"
"GENCC_000106-HGNC_14432-OMIM_614424-HP_0000007-GENCC_100002"	"HGNC:14432"	"TMEM237"	"MONDO:0013745"	"Joubert syndrome 14"	"OMIM:614424"	"Joubert syndrome 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14432"	"TMEM237"	"OMIM:614424"	"Joubert syndrome 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22152675, 239686, 244030, 278360"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM2370Joubert"	"2023-11-30"
"GENCC_000106-HGNC_33778-OMIM_254940-HP_0000007-GENCC_100002"	"HGNC:33778"	"MYMK"	"MONDO:0800437"	"Carey-Fineman-Ziter syndrome 1"	"OMIM:254940"	"Carey-Fineman-Ziter syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33778"	"MYMK"	"OMIM:254940"	"Carey-Fineman-Ziter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:11"	""	""	"28681861, 29560417"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYMK0CFZS"	"2023-11-30"
"GENCC_000106-HGNC_24529-OMIM_615972-HP_0000006-GENCC_100002"	"HGNC:24529"	"TMEM98"	"MONDO:0014426"	"nanophthalmos 4"	"OMIM:615972"	"Nanophthalmos 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24529"	"TMEM98"	"OMIM:615972"	"nanophthalmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-15 07:14:35"	""	""	"24852644, 26392740, 28098148, 31266059"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM980Nanophthalmos"	"2023-11-30"
"GENCC_000106-HGNC_30739-OMIM_618730-HP_0000007-GENCC_100002"	"HGNC:30739"	"TMX2"	"MONDO:0032887"	"neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"	"OMIM:618730"	"Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30739"	"TMX2"	"OMIM:618730"	"neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-20 10:10:39"	""	""	"31586943, 31735293"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMX20TMX2rel"	"2023-11-30"
"GENCC_000106-HGNC_5318-OMIM_615629-HP_0000006-GENCC_100004"	"HGNC:5318"	"TNC"	"MONDO:0014283"	"autosomal dominant nonsyndromic hearing loss 56"	"OMIM:615629"	"Deafness, autosomal dominant 56"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5318"	"TNC"	"OMIM:615629"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-25 12:35:03"	""	""	"23936043, 282782, 282792"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNC0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_18153-OMIM_240500-HP_0000007-GENCC_100002"	"HGNC:18153"	"TNFRSF13B"	"MONDO:0009413"	"immunodeficiency, common variable, 2"	"OMIM:240500"	"Immunodeficiency, common variable, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18153"	"TNFRSF13B"	"OMIM:240500"	"common variable immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-25 19:02:25"	""	""	"16007086, 16007087, 17392797, 17392798, 18981294, 20889194, 22983507, 26563668, 27123465, 27250108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF13B0CVID"	"2023-11-30"
"GENCC_000106-HGNC_11916-OMIM_142680-HP_0000006-GENCC_100002"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"OMIM:142680"	"Periodic fever, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11916"	"TNFRSF1A"	"OMIM:142680"	"autosomal dominant familial periodic fever"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-07 13:01:36"	""	""	"11175303, 15312137, 16684962, 18086728, 21724465"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF1A0TRAPS"	"2023-11-30"
"GENCC_000106-HGNC_11948-OMIM_605355-HP_0000007-GENCC_100002"	"HGNC:11948"	"TNNT1"	"MONDO:0011539"	"nemaline myopathy 5"	"OMIM:605355"	"Nemaline myopathy 5A, autosomal recessive, severe infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11948"	"TNNT1"	"OMIM:605355"	"nemaline myopathy 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-18 20:56:45"	""	""	"10952871, 12732643, 24689076, 25430424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNT10NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_29190-OMIM_619243-HP_0000006-GENCC_100002"	"HGNC:29190"	"TNRC6B"	"MONDO:0030995"	"global developmental delay with speech and behavioral abnormalities"	"OMIM:619243"	"Global developmental delay with speech and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29190"	"TNRC6B"	"OMIM:619243"	"global developmental delay with speech and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-07 12:11:51"	""	""	"26236334, 27824329, 29463886, 30564305, 32152250"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNRC6B0TNRC6Brel"	"2023-11-30"
"GENCC_000106-HGNC_11976-OMIM_606408-HP_0000007-GENCC_100002"	"HGNC:11976"	"TNXB"	"MONDO:0011670"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"OMIM:606408"	"Ehlers-Danlos syndrome, classic-like, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11976"	"TNXB"	"OMIM:606408"	"Ehlers-Danlos syndrome due to tenascin-X deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-20 14:44:48"	""	""	"112276, 114804, 11642233, 15793839, 20649799, 247760, 275504, 27582382, 9288108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNXB0EhlersDanlos"	"2023-11-30"
"GENCC_000106-HGNC_15954-OMIM_614969-HP_0000007-GENCC_100002"	"HGNC:15954"	"TOE1"	"MONDO:0013993"	"pontocerebellar hypoplasia type 7"	"OMIM:614969"	"Pontocerebellar hypoplasia, type 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15954"	"TOE1"	"OMIM:614969"	"pontocerebellar hypoplasia type 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-07 20:59:27"	""	""	"28092684, 34716526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOE10PCH"	"2023-11-30"
"GENCC_000106-HGNC_3098-OMIM_128100-HP_0000006-GENCC_100002"	"HGNC:3098"	"TOR1A"	"MONDO:0007492"	"early-onset generalized limb-onset dystonia"	"OMIM:128100"	"Dystonia-1, torsion"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3098"	"TOR1A"	"OMIM:128100"	"early-onset generalized limb-onset dystonia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-08 11:14:49"	""	""	"11523564, 20301665, 20482602, 23814534, 25034123, 29801903, 9288096"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOR1A0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_3098-OMIM_618947-HP_0000007-GENCC_100002"	"HGNC:3098"	"TOR1A"	"MONDO:0100218"	"arthrogryposis multiplex congenita 5"	"OMIM:618947"	"Arthrogryposis multiplex congenita 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3098"	"TOR1A"	"OMIM:618947"	"arthrogryposis multiplex congenita 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-15 23:39:44"	""	""	"16364891, 28516161, 29053766, 30244176"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOR1A0LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_29456-OMIM_617072-HP_0000007-GENCC_100002"	"HGNC:29456"	"TOR1AIP1"	"MONDO:0014900"	"autosomal recessive limb-girdle muscular dystrophy type 2Y"	"OMIM:617072"	"?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29456"	"TOR1AIP1"	"OMIM:617072"	"autosomal recessive limb-girdle muscular dystrophy type 2Y"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 14:57:55"	""	""	"24055652, 24856141, 26436962, 27342937, 30723199, 32055997"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOR1AIP10LGMD"	"2023-11-30"
"GENCC_000106-HGNC_17358-OMIM_614458-HP_0000007-GENCC_100002"	"HGNC:17358"	"TPK1"	"MONDO:0013761"	"childhood encephalopathy due to thiamine pyrophosphokinase deficiency"	"OMIM:614458"	"Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17358"	"TPK1"	"OMIM:614458"	"childhood encephalopathy due to thiamine pyrophosphokinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"1352500, 22152682, 25106414, 25458521, 26975778, 28706281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPK10ThiamineMetab"	"2023-11-30"
"GENCC_000106-HGNC_12012-OMIM_609284-HP_0000007-GENCC_100002"	"HGNC:12012"	"TPM3"	"MONDO:0012239"	"congenital myopathy 4B, autosomal recessive"	"OMIM:609284"	"Congenital myopathy 4B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12012"	"TPM3"	"OMIM:609284"	"childhood-onset nemaline myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-01 08:16:47"	""	""	"10619715, 1219661, 18382475, 19953533, 27858751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPM30CM02"	"2023-11-30"
"GENCC_000106-HGNC_17861-OMIM_616629-HP_0000007-GENCC_100002"	"HGNC:17861"	"TRAF3IP1"	"MONDO:0014712"	"Senior-Loken syndrome 9"	"OMIM:616629"	"Senior-Loken syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17861"	"TRAF3IP1"	"OMIM:616629"	"Senior-Loken syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"21945076, 26487268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAF3IP10SeniorLoken"	"2023-11-30"
"GENCC_000106-HGNC_20456-OMIM_618164-HP_0000006-GENCC_100002"	"HGNC:20456"	"TRAF7"	"MONDO:0032572"	"cardiac, facial, and digital anomalies with developmental delay"	"OMIM:618164"	"Cardiac, facial, and digital anomalies with developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20456"	"TRAF7"	"OMIM:618164"	"cardiac, facial, and digital anomalies with developmental delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-18 20:51:53"	""	""	"29961569, 32376980"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAF70TRAF7rel"	"2023-11-30"
"GENCC_000106-HGNC_30764-OMIM_616777-HP_0000007-GENCC_100002"	"HGNC:30764"	"TRAIP"	"MONDO:0014767"	"Seckel syndrome 9"	"OMIM:616777"	"Seckel syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30764"	"TRAIP"	"OMIM:616777"	"Seckel syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"26595769"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAIP0Seckel"	"2023-11-30"
"GENCC_000106-HGNC_19943-OMIM_618741-HP_0000007-GENCC_100002"	"HGNC:19943"	"TRAPPC4"	"MONDO:0032894"	"neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"OMIM:618741"	"Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19943"	"TRAPPC4"	"OMIM:618741"	"neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:56"	""	""	"31794024, 32901138, 33011761"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAPPC40TRAPPC4rel"	"2023-11-30"
"GENCC_000106-HGNC_30832-OMIM_613192-HP_0000007-GENCC_100002"	"HGNC:30832"	"TRAPPC9"	"MONDO:0013173"	"intellectual disability, autosomal recessive 13"	"OMIM:613192"	"Intellectual developmental disorder, autosomal recessive 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30832"	"TRAPPC9"	"OMIM:613192"	"autosomal recessive non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-11 22:42:18"	""	""	"2000476, 20004763, 20004764, 20004765, 22549410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAPPC90ID"	"2023-11-30"
"GENCC_000106-HGNC_12261-OMIM_615441-HP_0000007-GENCC_100002"	"HGNC:12261"	"TRDN"	"MONDO:0014191"	"catecholaminergic polymorphic ventricular tachycardia 5"	"OMIM:615441"	"Cardiac arrhythmia syndrome, with or without skeletal muscle weakness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12261"	"TRDN"	"OMIM:615441"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:28:24"	""	""	"22422768, 22768324, 247606, 25922419, 26200674, 26768964, 280480, 28202702, 30649896"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRDN0TKOS"	"2023-11-30"
"GENCC_000106-HGNC_23595-OMIM_607317-HP_0000007-GENCC_100002"	"HGNC:23595"	"VPS13D"	"MONDO:0011811"	"autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"	"OMIM:607317"	"Spinocerebellar ataxia, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23595"	"VPS13D"	"OMIM:607317"	"autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-19 17:56:11"	""	""	"29518281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS13D0VPS13Drel"	"2023-11-30"
"GENCC_000106-HGNC_13487-OMIM_614203-HP_0000006-GENCC_100002"	"HGNC:13487"	"VPS35"	"MONDO:0013625"	"Parkinson disease 17"	"OMIM:614203"	"{Parkinson disease 17}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13487"	"VPS35"	"OMIM:614203"	"late-onset Parkinson disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:43"	""	""	"21763482, 21763483, 23125461, 23536430, 24565865, 24740878, 26251041, 26869347"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS350Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_24928-OMIM_614898-HP_0000007-GENCC_100004"	"HGNC:24928"	"VPS37A"	"MONDO:0013962"	"hereditary spastic paraplegia 53"	"OMIM:614898"	"Spastic paraplegia 53, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24928"	"VPS37A"	"OMIM:614898"	"hereditary spastic paraplegia 53"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"22717650"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS37A0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_14579-OMIM_615285-HP_0000007-GENCC_100002"	"HGNC:14579"	"VPS45"	"MONDO:0014118"	"congenital neutropenia-myelofibrosis-nephromegaly syndrome"	"OMIM:615285"	"Neutropenia, severe congenital, 5, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14579"	"VPS45"	"OMIM:615285"	"congenital neutropenia-myelofibrosis-nephromegaly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-26 08:26:06"	""	""	"23599270, 23738510, 26358756"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS450VPS45def"	"2023-11-30"
"GENCC_000106-HGNC_30910-OMIM_619216-HP_0000007-GENCC_100002"	"HGNC:30910"	"VWA1"	"MONDO:0030977"	"neuronopathy, distal hereditary motor, autosomal recessive 7"	"OMIM:619216"	"Neuronopathy, distal hereditary motor, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30910"	"VWA1"	"OMIM:619216"	"neuropathy, hereditary motor, with myopathic features"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 16:02:21"	""	""	"33459760, 33559681"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VWA10Neuromyopathy"	"2023-11-30"
"GENCC_000106-HGNC_12729-OMIM_617721-HP_0000006-GENCC_100002"	"HGNC:12729"	"WARS1"	"MONDO:0060585"	"neuronopathy, distal hereditary motor, type 9"	"OMIM:617721"	"Neuronopathy, distal hereditary motor, autosomal dominant 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12729"	"WARS1"	"OMIM:617721"	"neuronopathy, distal hereditary motor, type 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:43"	""	""	"28369220, 31069783, 31321409"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WARS10HMN"	"2023-11-30"
"GENCC_000106-HGNC_12730-OMIM_617710-HP_0000007-GENCC_100002"	"HGNC:12730"	"WARS2"	"MONDO:0060578"	"neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"	"OMIM:617710"	"Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12730"	"WARS2"	"OMIM:617710"	"neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:04"	""	""	"23236339, 28236339, 28554332, 28650581, 28905505, 29120065, 31970218, 34890876"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WARS20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_12732-OMIM_618707-HP_0000006-GENCC_100002"	"HGNC:12732"	"WASF1"	"MONDO:0032876"	"neurodevelopmental disorder with absent language and variable seizures"	"OMIM:618707"	"Neurodevelopmental disorder with absent language and variable seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12732"	"WASF1"	"OMIM:618707"	"neurodevelopmental disorder with absent language and variable seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-30 21:00:49"	""	""	"29961568"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WASF10WASF1rel"	"2023-11-30"
"GENCC_000106-HGNC_16461-OMIM_619227-HP_0000006-GENCC_100002"	"HGNC:16461"	"WBP11"	"MONDO:0030987"	"vertebral, cardiac, tracheoesophageal, renal, and limb defects"	"OMIM:619227"	"Vertebral, cardiac, tracheoesophageal, renal, and limb defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16461"	"WBP11"	"OMIM:619227"	"vertebral, cardiac, tracheoesophageal, renal, and limb defects"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:43:29"	""	""	"33276377"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WBP110CMalformation"	"2023-11-30"
"GENCC_000106-HGNC_13831-OMIM_614858-HP_0000006-GENCC_100002"	"HGNC:13831"	"WDR11"	"MONDO:0013926"	"hypogonadotropic hypogonadism 14 with or without anosmia"	"OMIM:614858"	"Hypogonadotropic hypogonadism 14 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13831"	"WDR11"	"OMIM:614858"	"hypogonadotropic hypogonadism 14 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-28 20:39:09"	""	""	"20887964, 27899157, 28209183, 29263200, 30098700"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR110IHH"	"2023-11-30"
"GENCC_000106-HGNC_31406-OMIM_618652-HP_0000006-GENCC_100002"	"HGNC:31406"	"WDR37"	"MONDO:0032850"	"neurooculocardiogenitourinary syndrome"	"OMIM:618652"	"Neurooculocardiogenitourinary syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31406"	"WDR37"	"OMIM:618652"	"neurooculocardiogenitourinary syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-18 14:12:02"	""	""	"31327508, 31327510, 32530092"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR370WDR37rel"	"2023-11-30"
"GENCC_000106-HGNC_25072-OMIM_617977-HP_0000007-GENCC_100002"	"HGNC:25072"	"WDR45B"	"MONDO:0060704"	"neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"	"OMIM:617977"	"Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25072"	"WDR45B"	"OMIM:617977"	"neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 19:51:14"	""	""	"21937992, 27124789, 28503735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR45B0ID"	"2023-11-30"
"GENCC_000106-HGNC_28506-OMIM_618152-HP_0000007-GENCC_100002"	"HGNC:28506"	"CFAP251"	"MONDO:0029147"	"spermatogenic failure 33"	"OMIM:618152"	"Spermatogenic failure 33"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28506"	"CFAP251"	"OMIM:618152"	"spermatogenic failure 33"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"30122540, 30122541, 30310178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFAP2510MMAF"	"2023-11-30"
"GENCC_000106-HGNC_32225-OMIM_618453-HP_0000007-GENCC_100004"	"HGNC:32225"	"WIPI2"	"MONDO:0032759"	"intellectual developmental disorder with short stature and variable skeletal anomalies"	"OMIM:618453"	"?Intellectual developmental disorder with short stature and variable skeletal anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32225"	"WIPI2"	"OMIM:618453"	"intellectual developmental disorder with short stature and variable skeletal anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-06-03 14:00:49"	""	""	"30237576, 30968111"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WIPI20Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_14540-OMIM_201300-HP_0000007-GENCC_100002"	"HGNC:14540"	"WNK1"	"MONDO:0024309"	"neuropathy, hereditary sensory and autonomic, type 2A"	"OMIM:201300"	"Neuropathy, hereditary sensory and autonomic, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14540"	"WNK1"	"OMIM:201300"	"hereditary sensory and autonomic neuropathy type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-18 09:34:37"	""	""	"15060842, 18521183, 22910560"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNK10HSAN"	"2023-11-30"
"GENCC_000106-HGNC_14540-OMIM_614492-HP_0000006-GENCC_100002"	"HGNC:14540"	"WNK1"	"MONDO:0013778"	"pseudohypoaldosteronism type 2C"	"OMIM:614492"	"Pseudohypoaldosteronism, type IIC"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14540"	"WNK1"	"OMIM:614492"	"pseudohypoaldosteronism type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:44"	""	""	"10869238, 11498583, 20921400, 23940364"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNK10Gordon's"	"2023-11-30"
"GENCC_000106-HGNC_14544-OMIM_614491-HP_0000006-GENCC_100002"	"HGNC:14544"	"WNK4"	"MONDO:0013777"	"pseudohypoaldosteronism type 2B"	"OMIM:614491"	"Pseudohypoaldosteronism, type IIB"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14544"	"WNK4"	"OMIM:614491"	"pseudohypoaldosteronism type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:44"	""	""	"11498583, 15292344, 19016006, 21670282, 21764813, 23336180, 26920127"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNK40Gordon's"	"2023-11-30"
"GENCC_000106-HGNC_12774-OMIM_615220-HP_0000007-GENCC_100002"	"HGNC:12774"	"WNT1"	"MONDO:0014086"	"osteogenesis imperfecta type 15"	"OMIM:615220"	"Osteogenesis imperfecta, type XV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12774"	"WNT1"	"OMIM:615220"	"osteogenesis imperfecta"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-11 22:34:15"	""	""	"2202907, 23434763, 23499309, 23499310, 26671912, 30896082"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT10OI"	"2023-11-30"
"GENCC_000106-HGNC_12774-OMIM_615221-HP_0000006-GENCC_100002"	"HGNC:12774"	"WNT1"	"MONDO:0019409"	"idiopathic juvenile osteoporosis"	"OMIM:615221"	"{Osteoporosis, early-onset, susceptibility to, autosomal dominant}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12774"	"WNT1"	"OMIM:615221"	"idiopathic juvenile osteoporosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 00:20:35"	""	""	"23499309, 23656646, 28378289, 28866630, 29620724, 30246918, 30283887, 32369212, 33195954, 36595228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT10Osteoporosis"	"2023-11-30"
"GENCC_000106-HGNC_13829-OMIM_257980-HP_0000007-GENCC_100002"	"HGNC:13829"	"WNT10A"	"MONDO:0009773"	"odonto-onycho-dermal dysplasia"	"OMIM:257980"	"Ectodermal dysplasia 16 (odontoonychodermal dysplasia)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13829"	"WNT10A"	"OMIM:257980"	"odonto-onycho-dermal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 21:49:25"	""	""	"17847007, 19559398, 21143469, 22581971, 24902757"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT10A0Odontoonycho"	"2023-11-30"
"GENCC_000106-HGNC_12775-OMIM_225300-HP_0000007-GENCC_100002"	"HGNC:12775"	"WNT10B"	"MONDO:0009157"	"split hand-foot malformation 6"	"OMIM:225300"	"Split-hand/foot malformation 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12775"	"WNT10B"	"OMIM:225300"	"split hand-foot malformation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-13 15:11:54"	""	""	"18515319, 20499361, 20635353, 24211389, 29384555, 31050392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT10B0SplitHandFoot"	"2023-11-30"
"GENCC_000106-HGNC_12781-OMIM_618168-HP_0000007-GENCC_100002"	"HGNC:12781"	"WNT2B"	"MONDO:0032575"	"diarrhea 9"	"OMIM:618168"	"Diarrhea 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12781"	"WNT2B"	"OMIM:618168"	"diarrhea 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-04 19:49:45"	""	""	"113033702, 29909964, 33526876"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT2B0OculoIntestinal"	"2023-11-30"
"GENCC_000106-HGNC_12783-OMIM_158330-HP_0000006-GENCC_100002"	"HGNC:12783"	"WNT4"	"MONDO:0008019"	"mullerian aplasia and hyperandrogenism"	"OMIM:158330"	"Mullerian aplasia and hyperandrogenism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12783"	"WNT4"	"OMIM:158330"	"mullerian aplasia and hyperandrogenism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:44"	""	""	"15317892, 16959810, 18179883, 18182450, 21377155, 227262, 23520208, 279180, 282502, 28618409, 29194579, 9989404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT40MRKHS"	"2023-11-30"
"GENCC_000106-HGNC_25522-OMIM_613988-HP_0000007-GENCC_100002"	"HGNC:25522"	"WRAP53"	"MONDO:0013520"	"dyskeratosis congenita, autosomal recessive 3"	"OMIM:613988"	"Dyskeratosis congenita, autosomal recessive 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25522"	"WRAP53"	"OMIM:613988"	"dyskeratosis congenita"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"20552426, 21205863, 21602826, 26822237, 28125078, 29514627, 30523342, 30552426, 31130284, 32303682"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WRAP530DKC"	"2023-11-30"
"GENCC_000106-HGNC_12791-OMIM_277700-HP_0000007-GENCC_100002"	"HGNC:12791"	"WRN"	"MONDO:0010196"	"Werner syndrome"	"OMIM:277700"	"Werner syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12791"	"WRN"	"OMIM:277700"	"Werner syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-25 22:27:08"	""	""	"10189141, 16673358, 23573208, 33194896"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WRN0Werner"	"2023-11-30"
"GENCC_000106-HGNC_12805-OMIM_278300-HP_0000007-GENCC_100002"	"HGNC:12805"	"XDH"	"MONDO:0010209"	"xanthinuria type I"	"OMIM:278300"	"Xanthinuria, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12805"	"XDH"	"OMIM:278300"	"hereditary xanthinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"10844591, 19667249, 20077140, 21963464, 22821105, 9153281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XDH0Xanthinuria"	"2023-11-30"
"GENCC_000106-HGNC_592-OMIM_300635-HP_0001417-GENCC_100002"	"HGNC:592"	"XIAP"	"MONDO:0010385"	"X-linked lymphoproliferative disease due to XIAP deficiency"	"OMIM:300635"	"Lymphoproliferative syndrome, X-linked, 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:592"	"XIAP"	"OMIM:300635"	"X-linked lymphoproliferative syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 15:39:59"	""	""	"17080092, 21119115, 25666262"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XIAP0EBVlymph"	"2023-11-30"
"GENCC_000106-HGNC_15516-OMIM_615777-HP_0000007-GENCC_100002"	"HGNC:15516"	"XYLT1"	"MONDO:0014343"	"Desbuquois dysplasia 2"	"OMIM:615777"	"Desbuquois dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15516"	"XYLT1"	"OMIM:615777"	"Desbuquois dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:27:11"	""	""	"121326, 23982343, 24581741, 26601923, 27030147, 281900, 28229453, 30554721"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XYLT10Desbuquios"	"2023-11-30"
"GENCC_000106-HGNC_15517-OMIM_605822-HP_0000007-GENCC_100002"	"HGNC:15517"	"XYLT2"	"MONDO:0011604"	"spondylo-ocular syndrome"	"OMIM:605822"	"Spondyloocular syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15517"	"XYLT2"	"OMIM:605822"	"spondylo-ocular syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-28 21:59:37"	""	""	"26027496, 26987875"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XYLT20SOS"	"2023-11-30"
"GENCC_000106-HGNC_12840-OMIM_608323-HP_0000006-GENCC_100002"	"HGNC:12840"	"YARS1"	"MONDO:0012012"	"Charcot-Marie-Tooth disease dominant intermediate C"	"OMIM:608323"	"Charcot-Marie-Tooth disease, dominant intermediate C"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12840"	"YARS1"	"OMIM:608323"	"Charcot-Marie-Tooth disease dominant intermediate C"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:33"	""	""	"16429158, 19561293, 24354524, 24627108, 30340945, 30373780, 31832804"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YARS0CMT"	"2023-11-30"
"GENCC_000106-HGNC_12840-OMIM_619418-HP_0000007-GENCC_100002"	"HGNC:12840"	"YARS1"	"MONDO:0030375"	"neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2"	"OMIM:619418"	"Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12840"	"YARS1"	"OMIM:619418"	"neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-15 11:25:54"	""	""	"27633801, 29232904, 29302074, 30304524"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YARS0YARSrel"	"2023-11-30"
"GENCC_000106-HGNC_30511-OMIM_619125-HP_0000007-GENCC_100002"	"HGNC:30511"	"YIF1B"	"MONDO:0030878"	"Kaya-Barakat-Masson syndrome"	"OMIM:619125"	"Kaya-Barakat-Masson syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30511"	"YIF1B"	"OMIM:619125"	"Kaya-Barakat-Masson syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-23 22:55:29"	""	""	"32006098, 36948290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YIF1B0YIF1Brel"	"2023-11-30"
"GENCC_000106-HGNC_28905-OMIM_619609-HP_0000007-GENCC_100002"	"HGNC:28905"	"YRDC"	"MONDO:0030476"	"Galloway-Mowat syndrome 10"	"OMIM:619609"	"Galloway-Mowat syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28905"	"YRDC"	"OMIM:619609"	"Galloway-Mowat syndrome 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-12 11:25:15"	""	""	"31481669"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YRDC0Galloway"	"2023-11-30"
"GENCC_000106-HGNC_12852-OMIM_617665-HP_0000006-GENCC_100002"	"HGNC:12852"	"YWHAG"	"MONDO:0033365"	"developmental and epileptic encephalopathy, 56"	"OMIM:617665"	"Developmental and epileptic encephalopathy 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12852"	"YWHAG"	"OMIM:617665"	"developmental and epileptic encephalopathy, 56"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-18 07:13:11"	""	""	"28777935, 33767733"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YWHAG0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_32550-OMIM_616248-HP_0000007-GENCC_100004"	"HGNC:32550"	"ZBTB42"	"MONDO:0014549"	"lethal congenital contracture syndrome 6"	"OMIM:616248"	"?Lethal congenital contracture syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32550"	"ZBTB42"	"OMIM:616248"	"lethal congenital contracture syndrome 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-30 09:28:55"	""	""	"25055871"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZBTB420LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_26559-OMIM_610244-HP_0000006-GENCC_100004"	"HGNC:26559"	"ZFYVE27"	"MONDO:0012448"	"hereditary spastic paraplegia 33"	"OMIM:610244"	"OMIM:610244"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26559"	"ZFYVE27"	"OMIM:610244"	"hereditary spastic paraplegia 33"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-10 11:47:35"	""	""	"16826525, 21976701, 22573551, 25497598, 25842391, 27884173, 29980238, 30564185, 31227335"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFYVE270SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_16493-OMIM_618659-HP_0000006-GENCC_100002"	"HGNC:16493"	"ZMIZ1"	"MONDO:0032855"	"neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	"OMIM:618659"	"Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16493"	"ZMIZ1"	"OMIM:618659"	"neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 15:43:23"	""	""	"26163108, 29225144, 30639322, 31785789, 31833199, 32368696, 32399599, 34918830, 35432459, 36360260"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZMIZ10ZMIZ1rel"	"2023-11-30"
"GENCC_000106-HGNC_16966-OMIM_616083-HP_0000006-GENCC_100002"	"HGNC:16966"	"ZMYND11"	"MONDO:0014486"	"intellectual disability, autosomal dominant 30"	"OMIM:616083"	"Intellectual developmental disorder, autosomal dominant 30"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16966"	"ZMYND11"	"OMIM:616083"	"intellectual disability-expressive aphasia-facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-14 15:18:42"	""	""	"25217958, 25281490, 27334371, 27626064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZMYND110DevDelay"	"2023-11-30"
"GENCC_000106-HGNC_20997-OMIM_615842-HP_0000007-GENCC_100002"	"HGNC:20997"	"ZMYND15"	"MONDO:0014366"	"spermatogenic failure 14"	"OMIM:615842"	"?Spermatogenic failure 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20997"	"ZMYND15"	"OMIM:615842"	"male infertility with azoospermia or oligozoospermia due to single gene mutation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 13:05:32"	""	""	"20675388, 24431330, 33169450, 33728612, 35017390, 35973810"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZMYND150?Spermat04"	"2023-11-30"
"GENCC_000106-HGNC_12933-OMIM_617260-HP_0000006-GENCC_100002"	"HGNC:12933"	"ZNF148"	"MONDO:0014994"	"global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies"	"OMIM:617260"	"Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12933"	"ZNF148"	"OMIM:617260"	"global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-24 00:12:20"	""	""	"27964749, 36444493, 617260"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF1480ID"	"2023-11-30"
"GENCC_000106-HGNC_18410-OMIM_619188-HP_0000006-GENCC_100002"	"HGNC:18410"	"ZNF292"	"MONDO:0030934"	"intellectual developmental disorder, autosomal dominant 64"	"OMIM:619188"	"Intellectual developmental disorder, autosomal dominant 64"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18410"	"ZNF292"	"OMIM:619188"	"intellectual developmental disorder, autosomal dominant 64"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:33"	""	""	"22495311, 25849321, 27824329, 28191890, 29158550, 29904178, 30564305, 31723249"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF2920Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_20041-OMIM_616468-HP_0000006-GENCC_100002"	"HGNC:20041"	"ZNF408"	"MONDO:0014652"	"exudative vitreoretinopathy 6"	"OMIM:616468"	"?Exudative vitreoretinopathy 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20041"	"ZNF408"	"OMIM:616468"	"exudative vitreoretinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 15:22:15"	""	""	"23716654, 25711638, 25882705, 27316669"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF4080ExudVitreoret"	"2023-11-30"
"GENCC_000106-HGNC_20041-OMIM_616469-HP_0000007-GENCC_100002"	"HGNC:20041"	"ZNF408"	"MONDO:0014653"	"retinitis pigmentosa 72"	"OMIM:616469"	"Retinitis pigmentosa 72"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20041"	"ZNF408"	"OMIM:616469"	"retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-22 12:11:31"	""	""	"25882705, 28095122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF4080RP"	"2023-11-30"
"GENCC_000106-HGNC_16762-OMIM_614844-HP_0000007-GENCC_100002"	"HGNC:16762"	"ZNF423"	"MONDO:0013916"	"nephronophthisis 14"	"OMIM:614844"	"Joubert syndrome 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16762"	"ZNF423"	"OMIM:614844"	"nephronophthisis 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"17151198, 219346, 22863007, 281252, 282338, 282356, 28454995, 30143558, 30868567, 32925911, 33531950"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF4230Joubert"	"2023-11-30"
"GENCC_000106-HGNC_23216-OMIM_229200-HP_0000007-GENCC_100002"	"HGNC:23216"	"ZNF469"	"MONDO:0024543"	"brittle cornea syndrome 1"	"OMIM:229200"	"Brittle cornea syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23216"	"ZNF469"	"OMIM:229200"	"brittle cornea syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"14679583, 22686506, 2360354, 23642083, 23680354, 30338343"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF4690BrittleCornea"	"2023-11-30"
"GENCC_000106-HGNC_12309-OMIM_260565-HP_0000007-GENCC_100004"	"HGNC:12309"	"ZNHIT3"	"MONDO:0009841"	"PEHO syndrome"	"OMIM:260565"	"PEHO syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12309"	"ZNHIT3"	"OMIM:260565"	"PEHO syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-19 12:48:19"	""	""	"28335020, 31048081"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNHIT30PehoSynd"	"2023-11-30"
"GENCC_000106-HGNC_13187-OMIM_615774-HP_0000007-GENCC_100002"	"HGNC:13187"	"ZP1"	"MONDO:0014342"	"female infertility due to zona pellucida defect"	"OMIM:615774"	"Oocyte/zygote/embryo maturation arrest 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13187"	"ZP1"	"OMIM:615774"	"female infertility due to zona pellucida defect"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-05 19:55:29"	""	""	"10433913, 24670168, 28505269, 28577617, 30778819, 31734689"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZP10FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_13188-OMIM_618353-HP_0000007-GENCC_100002"	"HGNC:13188"	"ZP2"	"MONDO:0032696"	"oocyte maturation defect 6"	"OMIM:618353"	"Oocyte/zygote/embryo maturation arrest 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13188"	"ZP2"	"OMIM:618353"	"oocyte maturation defect 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-18 15:17:35"	""	""	"11245577, 29895852, 30810869, 37293489"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZP20FemaleInf02"	"2023-11-30"
"GENCC_000114-HGNC_20074-MONDO_0015159 -HP_0000007-GENCC_100001"	"HGNC:20074"	"PAN2"	"MONDO:0015159"	"multiple congenital anomalies/dysmorphic syndrome-intellectual disability"	"MONDO:0015159"	"multiple congenital anomalies/dysmorphic syndrome-intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"HGNC:20074"	"PAN2"	"MONDO:0015159 "	"Autosomal recessive form of syndromic neurodevelopmental disorder and multiple congenital anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000114"	"King Faisal Specialist Hospital and Research Center"	"GENCC:100001"	"Definitive"	"2011-04-04 00:00:00"	""	"PAN2 was first reported in relation to Autosomal recessive form of syndromic neurodevelopmental disorder and multiple congenital anomalies in 2018 (Maddirevula S, et al., 2018, PMID: 29620724). At least 4 unique variants (e.g. indels, splice variant and nonsense) have been reported in humans with similar phenotype. Variants in this gene have been reported in at least 6 affected in 2 publications (PMID: 29620724; PMID: 35304602). Mice homozygous for an ENU-induced allele exhibit embryonic lethality (MGI:1918984). No convincing contradictory evidence has emerged. Two publications with convincing evidence and no convincing contradictory evidence classified PAN2 as definitive. Gene is scored according to ClinGen classification."	"29620724, 35304602"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure-version-8/"	"15DG2222"	"2022-04-04"
"GENCC_000105-HGNC_319-OMIM_165800-HP_0000006-GENCC_100001"	"HGNC:319"	"ACAN"	"MONDO:0017178"	"osteochondritis dissecans"	"OMIM:165800"	"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:319"	"ACAN"	"OMIM:165800"	"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-02-05 00:00:00"	""	""	"24762113, 27870580, 20137779, 9192671, 12888576"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100167"	"2022-10-27"
"GENCC_000105-HGNC_129-OMIM_161800-HP_0032113 -GENCC_100001"	"HGNC:129"	"ACTA1"	"MONDO:0020342"	"congenital myopathy with excess of thin filaments"	"OMIM:161800"	"Congenital myopathy 2A, typical, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:129"	"ACTA1"	"OMIM:161800"	"nemaline myopathy, autosomal recessive"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-06-22 00:00:00"	""	""	"10508519, 15236405, 17187373, 12138199"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100168"	"2022-10-27"
"GENCC_000105-HGNC_24124-MONDO_0000508-HP_0000006-GENCC_100003"	"HGNC:24124"	"ACTL6A"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:24124"	"ACTL6A"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-01-14 00:00:00"	""	""	"28649782, 34485408, 31994175, 34906496, 32873422, 33602870"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100169"	"2022-10-27"
"GENCC_000105-HGNC_216-OMIM_612775-HP_0000007-GENCC_100001"	"HGNC:216"	"ADAM9"	"MONDO:0013002"	"cone-rod dystrophy 9"	"OMIM:612775"	"Cone-rod dystrophy 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:216"	"ADAM9"	"OMIM:612775"	"cone-rod dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-04-27 00:00:00"	""	""	"9409519, 25091951, 25546566, 20806078"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100170"	"2022-10-27"
"GENCC_000105-HGNC_17109-MONDO_0013176-HP_0000007-GENCC_100001"	"HGNC:17109"	"ADAMTS17"	"MONDO:0013176"	"Weill-Marchesani 4 syndrome, recessive"	"MONDO:0013176"	"Weill-Marchesani 4 syndrome, recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:17109"	"ADAMTS17"	"MONDO:0013176"	"Weill-Marchesani syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-06-22 00:00:00"	""	""	"24940034, 19836009, 22486325, 31019231, 20301293, 31201465"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100171"	"2022-10-27"
"GENCC_000105-HGNC_17869-OMIM_616368-HP_0000006-GENCC_100002"	"HGNC:17869"	"AFF4"	"MONDO:0014609"	"cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome"	"OMIM:616368"	"CHOPS syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17869"	"AFF4"	"OMIM:616368"	"CHOPS syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-07-13 00:00:00"	""	""	"31058441, 25730767, 31630891, 33248856, 33961779"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100173"	"2022-10-27"
"GENCC_000105-HGNC_315-OMIM_610246-HP_0000006-GENCC_100001"	"HGNC:315"	"AFG3L2"	"MONDO:0012450"	"spinocerebellar ataxia type 28"	"OMIM:610246"	"Spinocerebellar ataxia 28"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:315"	"AFG3L2"	"OMIM:610246"	"Spinocerebellar ataxia type 28"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-05-28 00:00:00"	""	""	"20208537, 20725928, 19625515, 30389403, 30910913, 24814845, 16251216"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100174"	"2022-10-27"
"GENCC_000105-HGNC_3263-MONDO_0030897-HP_0000006-GENCC_100002"	"HGNC:3263"	"AGO2"	"MONDO:0030897"	"Lessel-Kreienkamp syndrome"	"MONDO:0030897"	"Lessel-Kreienkamp syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3263"	"AGO2"	"MONDO:0030897"	"Lessel-Kreienkamp syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-08-18 00:00:00"	""	""	"33199684"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100175"	"2022-10-27"
"GENCC_000105-HGNC_20125-MONDO_0015626-HP_0000007-GENCC_100004"	"HGNC:20125"	"AHNAK2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:20125"	"AHNAK2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-05-18 00:00:00"	""	""	"31011849, 24675079"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100176"	"2022-10-27"
"GENCC_000105-HGNC_9722-MONDO_0100126-HP_0032113 -GENCC_100001"	"HGNC:9722"	"ALDH18A1"	"MONDO:0100126"	"P5CS deficiency"	"MONDO:0100126"	"P5CS deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:9722"	"ALDH18A1"	"MONDO:0100126"	"P5CS deficiency"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-02-14 00:00:00"	""	""	"26320891, 28228640, 26297558, 26026163, 28567303, 30853934, 25613900"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100178"	"2022-10-27"
"GENCC_000105-HGNC_24600-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:24600"	"ANKS1B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:24600"	"ANKS1B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-01-20 00:00:00"	""	""	"31388001"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100180"	"2022-10-27"
"GENCC_000105-HGNC_25567-MONDO_0014958-HP_0032113 -GENCC_100001"	"HGNC:25567"	"ATAD3A"	"MONDO:0014958"	"Harel-Yoon syndrome"	"MONDO:0014958"	"Harel-Yoon syndrome"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:25567"	"ATAD3A"	"MONDO:0014958"	"Harel-Yoon syndrome"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-03 00:00:00"	""	""	"27640307, 29053797, 32607449, 27640307, 31727539, 31239750, 20154147, 23372768"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100182"	"2022-10-27"
"GENCC_000105-HGNC_801-MONDO_0700002-HP_0000006-GENCC_100001"	"HGNC:801"	"ATP1A3"	"MONDO:0700002"	"ATP1A3-associated neurological disorder"	"MONDO:0700002"	"ATP1A3-associated neurological disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:801"	"ATP1A3"	"MONDO:0700002"	"ATP1A3-associated neurological disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-02-27 00:00:00"	""	""	"22842232, 29861155, 27634470, 31425744, 24983657"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100183"	"2022-10-27"
"GENCC_000105-HGNC_868-OMIM_300972-HP_0001417-GENCC_100004"	"HGNC:868"	"ATP6AP1"	"MONDO:0010504"	"immunodeficiency 47"	"OMIM:300972"	"Immunodeficiency 47"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:868"	"ATP6AP1"	"OMIM:300972"	"immunodeficiency 47"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-02-11 00:00:00"	""	""	"27231034, 29396028, 29192153, 18227071, 26254189"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100184"	"2022-10-27"
"GENCC_000105-HGNC_14078-MONDO_0032723-HP_0000006-GENCC_100004"	"HGNC:14078"	"BACH2"	"MONDO:0032723"	"immunodeficiency 60"	"MONDO:0032723"	"immunodeficiency 60"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:14078"	"BACH2"	"MONDO:0032723"	"BACH2-related immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-06-23 00:00:00"	""	""	"28530713, 23728300"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100186"	"2022-10-27"
"GENCC_000105-HGNC_13222-MONDO_0060763-HP_0000006-GENCC_100001"	"HGNC:13222"	"BCL11B"	"MONDO:0060763"	"intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"	"MONDO:0060763"	"intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13222"	"BCL11B"	"MONDO:0060763"	"Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-04-08 00:00:00"	""	""	"33194885, 31347296, 29985992, 27959755"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100187"	"2022-10-27"
"GENCC_000105-HGNC_20893-MONDO_0010261-HP_0001417-GENCC_100001"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-18 00:00:00"	""	""	"29974297, 19367324, 19367324, 30450806, 17344103, 15004558, 17517692, 32692983"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100188"	"2022-10-27"
"GENCC_000105-HGNC_25657-MONDO_0026727-HP_0001417-GENCC_100004"	"HGNC:25657"	"BCORL1"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:25657"	"BCORL1"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2022-08-11 00:00:00"	""	""	"30941876, 33810051, 33994118, 344007773"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100189"	"2022-10-27"
"GENCC_000105-HGNC_4200-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:4200"	"BLOC1S1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:4200"	"BLOC1S1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-06-22 00:00:00"	""	""	"33875846"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100190"	"2022-10-27"
"GENCC_000105-HGNC_3581-MONDO_0000508-HP_0000006-GENCC_100002"	"HGNC:3581"	"BPTF"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3581"	"BPTF"	"MONDO:0000508"	"Syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-05-29 00:00:00"	""	""	"28942966, 18974875"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100191"	"2022-10-27"
"GENCC_000105-HGNC_20473-MONDO_0019391-HP_0000007-GENCC_100001"	"HGNC:20473"	"BRIP1"	"MONDO:0019391"	"Fanconi anemia"	"MONDO:0019391"	"Fanconi anemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:20473"	"BRIP1"	"MONDO:0019391"	"Fanconi anemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-02-12 00:00:00"	""	""	"16116423, 16116424, 26968956, 18426915, 24573678, 16153896"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100192"	"2022-10-27"
"GENCC_000105-HGNC_25443-Orphanet_289560-HP_0032113 -GENCC_100001"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"Orphanet:289560"	"Orphanet:289560"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:25443"	"C19orf12"	"Orphanet:289560"	"mitochondrial membrane protein-associated neurodegeneration"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-02-06 00:00:00"	""	""	"31087512, 23269600, 21981780, 26136767, 24586779"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100193"	"2022-10-27"
"GENCC_000105-HGNC_1388-OMIM_617106-HP_0000006-GENCC_100001"	"HGNC:1388"	"CACNA1A"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"OMIM:617106"	"Developmental and epileptic encephalopathy 42"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1388"	"CACNA1A"	"OMIM:617106"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-08-03 00:00:00"	""	""	"27476654, 31468518, 33425808, 27212419, 26739101, 25735478, 30600012, 25613900"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100194"	"2022-10-27"
"GENCC_000105-HGNC_1389-MONDO_0032784-HP_0000007-GENCC_100003"	"HGNC:1389"	"CACNA1B"	"MONDO:0032784"	"neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"MONDO:0032784"	"neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1389"	"CACNA1B"	"MONDO:0032784"	"neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-03-05 00:00:00"	""	""	"30982612, 31630675, 33521586, 19963013"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100195"	"2022-10-27"
"GENCC_000105-HGNC_1391-MONDO_0014200-HP_0000006-GENCC_100001"	"HGNC:1391"	"CACNA1D"	"MONDO:0014200"	"aldosterone-producing adenoma with seizures and neurological abnormalities"	"MONDO:0014200"	"aldosterone-producing adenoma with seizures and neurological abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1391"	"CACNA1D"	"MONDO:0014200"	"primary aldosteronism, seizures, and neurologic abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-12 00:00:00"	""	""	"23913001, 25620733, 28472301, 28318089, 11031246, 30465465, 31921405, 25907736"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100196"	"2022-10-27"
"GENCC_000105-HGNC_1396-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:1396"	"CACNA1I"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1396"	"CACNA1I"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-09-02 00:00:00"	""	""	"27541642, 28714951, 31785789, 33704440, 35229910"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100197"	"2022-10-27"
"GENCC_000105-HGNC_1424-OMIM_616457-HP_0000007-GENCC_100003"	"HGNC:1424"	"CAD"	"MONDO:0014647"	"developmental and epileptic encephalopathy, 50"	"OMIM:616457"	"Developmental and epileptic encephalopathy 50"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:1424"	"CAD"	"OMIM:616457"	"developmental and epileptic encephalopathy 50"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-01-25 00:00:00"	""	""	"25678555, 28007989"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100198"	"2022-10-27"
"GENCC_000105-HGNC_17601-MONDO_0030433-HP_0000006-GENCC_100004"	"HGNC:17601"	"CADM3"	"MONDO:0030433"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	"MONDO:0030433"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17601"	"CADM3"	"MONDO:0030433"	"	Charcot-Marie-Tooth disease, axonal, type 2FF"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-10-04 00:00:00"	""	""	"33889941, 27658374, 19036974, 17724124"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100199"	"2022-10-27"
"GENCC_000105-HGNC_1461-MONDO_0014699-HP_0000006-GENCC_100001"	"HGNC:1461"	"CAMK2B"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1461"	"CAMK2B"	"MONDO:0014699"	"	Intellectual developmental disorder, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-06-04 00:00:00"	""	""	"29100089, 33796307, 29560374, 32875707, 33019657, 25127391"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100200"	"2022-10-27"
"GENCC_000105-HGNC_1464-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:1464"	"CAMK4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1464"	"CAMK4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-07-15 00:00:00"	""	""	"30262571, 29100089, 2011593, 11069976, 28592691"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100201"	"2022-10-27"
"GENCC_000105-HGNC_1733-MONDO_0044302-HP_0000006-GENCC_100002"	"HGNC:1733"	"CDK13"	"MONDO:0044302"	"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	"MONDO:0044302"	"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1733"	"CDK13"	"MONDO:0044302"	"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-05-20 00:00:00"	""	""	"29393965, 27479907, 22547058"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100202"	"2022-10-27"
"GENCC_000105-HGNC_1786-MONDO_0013873-HP_0000006-GENCC_100003"	"HGNC:1786"	"CDKN1C"	"MONDO:0013873"	"IMAGe syndrome"	"MONDO:0013873"	"IMAGe syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1786"	"CDKN1C"	"MONDO:0013873"	"IMAGEesyndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-11-04 00:00:00"	""	""	"24313804, 22634751, 24098681, 25057881, 25262539"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100203"	"2022-10-27"
"GENCC_000105-HGNC_21638-MONDO_0011830-HP_0000006-GENCC_100002"	"HGNC:21638"	"CEP85L"	"MONDO:0011830"	"lissencephaly due to LIS1 mutation"	"MONDO:0011830"	"lissencephaly due to LIS1 mutation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:21638"	"CEP85L"	"MONDO:0011830"	"posterior predominant lissencephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-05-04 00:00:00"	""	""	"32097630, 32097629, 33096394"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100204"	"2022-10-27"
"GENCC_000105-HGNC_1918-MONDO_0032600-HP_0000006-GENCC_100001"	"HGNC:1918"	"CHD3"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1918"	"CHD3"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-23 00:00:00"	""	""	"30397230, 29463886, 26867680"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100205"	"2022-10-27"
"GENCC_000105-HGNC_14179-Orphanet_2038-HP_0000007-GENCC_100004"	"HGNC:14179"	"CIAO3"	"MONDO:0009930"	"pulmonary arteriovenous malformation"	"Orphanet:2038"	"Orphanet:2038"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:14179"	"CIAO3"	"Orphanet:2038"	"pulmonary arteriovenous malformations"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-03-11 00:00:00"	""	""	"27835862"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100206"	"2022-10-27"
"GENCC_000105-HGNC_14214-MONDO_0030910-HP_0000006-GENCC_100001"	"HGNC:14214"	"CIC"	"MONDO:0030910"	"intellectual disability, autosomal dominant 45"	"MONDO:0030910"	"intellectual disability, autosomal dominant 45"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:14214"	"CIC"	"MONDO:0030910"	"	Intellectual developmental disorder, autosomal dominant 45"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-14 00:00:00"	""	""	"28288114, 21076407, 24307393, 32382396, 19344873"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100207"	"2022-10-27"
"GENCC_000105-HGNC_17088-MONDO_0100038-HP_0000006-GENCC_100008"	"HGNC:17088"	"CLASP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17088"	"CLASP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2021-04-07 00:00:00"	""	""	"28135719, 28263302, 25363768, 25961944, 30787869, 30407599"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100208"	"2022-10-27"
"GENCC_000105-HGNC_2021-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:2021"	"CLCN3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2021"	"CLCN3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2022-02-16 00:00:00"	""	""	"34186028, 8155321"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100209"	"2022-10-27"
"GENCC_000105-HGNC_2150-MONDO_0009003-HP_0000007-GENCC_100001"	"HGNC:2150"	"CNGA3"	"MONDO:0009003"	"achromatopsia 2"	"MONDO:0009003"	"achromatopsia 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2150"	"CNGA3"	"MONDO:0009003"	"achromatopsia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-18 00:00:00"	""	""	"9662398, 11536077, 25637600, 20301591, 15790924, 22183332"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100210"	"2022-10-27"
"GENCC_000105-HGNC_2188-MONDO_0014655-HP_0000006-GENCC_100004"	"HGNC:2188"	"COL12A1"	"MONDO:0014655"	"Bethlem myopathy 2"	"MONDO:0014655"	"Bethlem myopathy 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2188"	"COL12A1"	"MONDO:0014655"	"Bethlem myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-11-04 00:00:00"	""	""	"24334769, 24334604, 27348394, 29342313, 24801612"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100211"	"2022-10-27"
"GENCC_000105-HGNC_2198-MONDO_0040501-HP_0000006-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0040501"	"ehlers-danlos syndrome, arthrochalasia type, 2"	"MONDO:0040501"	"ehlers-danlos syndrome, arthrochalasia type, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2198"	"COL1A2"	"MONDO:0040501"	"Ehlers-Danlos syndrome, arthrochalasia type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-21 00:00:00"	""	""	"24440294, 2777808, 9295084, 11073542, 23158907, 31218159, 31218159, 8081389, 1577745, 30082390"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100212"	"2022-10-27"
"GENCC_000105-HGNC_2203-MONDO_0018788-HP_0000006-GENCC_100003"	"HGNC:2203"	"COL4A2"	"MONDO:0018788"	"COL4A1 or COL4A2-related cerebral small vessel disease"	"MONDO:0018788"	"COL4A1 or COL4A2-related cerebral small vessel disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2203"	"COL4A2"	"MONDO:0018788"	"COL4A2-related cerebral small vessel disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-08-04 00:00:00"	""	""	"22209246, 22333902, 26708157, 28542708, 30315939, 17179069, 22209247"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100213"	"2022-10-27"
"GENCC_000105-HGNC_2213-MONDO_0014627-HP_0000007-GENCC_100004"	"HGNC:2213"	"COL6A3"	"MONDO:0014627"	"dystonia 27"	"MONDO:0014627"	"dystonia 27"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2213"	"COL6A3"	"MONDO:0014627"	"dystonia 27"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-02-05 00:00:00"	""	""	"26004199, 26872670, 32037012"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100214"	"2022-10-27"
"GENCC_000105-HGNC_25801-MONDO_0013824-HP_0000007-GENCC_100001"	"HGNC:25801"	"CPLANE1"	"MONDO:0013824"	"Joubert syndrome 17"	"MONDO:0013824"	"Joubert syndrome 17"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:25801"	"CPLANE1"	"MONDO:0013824"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-02-12 00:00:00"	""	""	"24178751, 27081551, 29605658, 32233090, 31004438, 29321670, 25877302, 27158779"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100215"	"2022-10-27"
"GENCC_000105-HGNC_2457-MONDO_0014893-HP_0000006-GENCC_100001"	"HGNC:2457"	"CSNK2A1"	"MONDO:0014893"	"Okur-Chung neurodevelopmental syndrome"	"MONDO:0014893"	"Okur-Chung neurodevelopmental syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2457"	"CSNK2A1"	"MONDO:0014893"	"Okur-Chung neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-03 00:00:00"	""	""	"27048600, 28725024, 29240241, 29619237, 31729156, 29383814, 17954558"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100216"	"2022-10-27"
"GENCC_000105-HGNC_2460-MONDO_0032889-HP_0000006-GENCC_100001"	"HGNC:2460"	"CSNK2B"	"MONDO:0032889"	"Poirier-Bienvenu neurodevelopmental syndrome"	"MONDO:0032889"	"Poirier-Bienvenu neurodevelopmental syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2460"	"CSNK2B"	"MONDO:0032889"	"	Poirier-Bienvenu neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-24 00:00:00"	""	""	"28585349, 28762608, 30655572, 31784560, 33166063, 12396231, 10658642, 27094248"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100217"	"2022-10-27"
"GENCC_000105-HGNC_2494-OMIM_617915-HP_0000006-GENCC_100002"	"HGNC:2494"	"CTBP1"	"MONDO:0060666"	"hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"OMIM:617915"	"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2494"	"CTBP1"	"OMIM:617915"	"	hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-11-18 00:00:00"	""	""	"27094857, 28955726, 31041561, 12101226, 28408745, 30356033, 32075774, 9524128, 26480814"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100218"	"2022-10-27"
"GENCC_000105-HGNC_2516-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:2516"	"CTNND2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2516"	"CTNND2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-11-06 00:00:00"	""	""	"25106414, 25807484, 25473103, 31814264, 19344873, 25839933, 15380068, 19914181"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100219"	"2022-10-27"
"GENCC_000105-HGNC_2873-MONDO_0001117-HP_0000007-GENCC_100001"	"HGNC:2873"	"CYB5R3"	"MONDO:0001117"	"methemoglobinemia"	"MONDO:0001117"	"methemoglobinemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2873"	"CYB5R3"	"MONDO:0001117"	"methemoglobinemia "	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-06-22 00:00:00"	""	""	"2107882, 7718898, 7668255, 29482478, 15921385, 9886302, 3035541, 11159544"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100220"	"2022-10-27"
"GENCC_000105-HGNC_23198-MONDO_0008865-HP_0000007-GENCC_100001"	"HGNC:23198"	"CYP4V2"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:23198"	"CYP4V2"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-04-28 00:00:00"	""	""	"15042513, 22693542, 15937078, 28051075, 25118264, 22772592"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100221"	"2022-10-27"
"GENCC_000105-HGNC_25536-MONDO_0030054-HP_0000007-GENCC_100004"	"HGNC:25536"	"DALRD3"	"MONDO:0030054"	"developmental and epileptic encephalopathy, 86"	"MONDO:0030054"	"developmental and epileptic encephalopathy, 86"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:25536"	"DALRD3"	"MONDO:0030054"	"developmental and epileptic encephalopathy 86"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-05-25 00:00:00"	""	""	"32427860"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100222"	"2022-10-27"
"GENCC_000105-HGNC_14677-MONDO_0100038-HP_0032113 -GENCC_100002"	"HGNC:14677"	"DEAF1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:14677"	"DEAF1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-02-09 00:00:00"	""	""	"24726472, 28940898, 30923367"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100223"	"2022-10-27"
"GENCC_000105-HGNC_19711-MONDO_0016296-HP_0032113 -GENCC_100004"	"HGNC:19711"	"DISP1"	"MONDO:0016296"	"holoprosencephaly"	"MONDO:0016296"	"holoprosencephaly"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:19711"	"DISP1"	"MONDO:0016296"	"holoprosencephaly"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-01-14 00:00:00"	""	""	"19184110, 27363716, 26748417, 25339593, 12421714"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100224"	"2022-10-27"
"GENCC_000105-HGNC_2978-MONDO_0014382-HP_0000006-GENCC_100001"	"HGNC:2978"	"DNMT3A"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2978"	"DNMT3A"	"MONDO:0014382"	"Tatton-Brown-Rahman syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-12-10 00:00:00"	""	""	"2461407, 27701732, 10555141, 33238114"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100225"	"2022-10-27"
"GENCC_000105-HGNC_9964-OMIM_618027-HP_0000006-GENCC_100002"	"HGNC:9964"	"DPF2"	"MONDO:0054831"	"Coffin-Siris syndrome 7"	"OMIM:618027"	"Coffin-Siris syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9964"	"DPF2"	"OMIM:618027"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2022-05-06 00:00:00"	""	""	"29429572, 19344873, 31207137"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100226"	"2022-10-27"
"GENCC_000105-HGNC_3005-OMIM_608799-HP_0000007-GENCC_100003"	"HGNC:3005"	"DPM1"	"MONDO:0012123"	"congenital disorder of glycosylation type 1E"	"OMIM:608799"	"Congenital disorder of glycosylation, type Ie"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:3005"	"DPM1"	"OMIM:608799"	"congenital disorder of glycosylation type Ie"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-11-05 00:00:00"	""	""	"10642597, 23856421, 10642602, 15669674, 16641202, 16280320"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100227"	"2022-10-27"
"GENCC_000105-HGNC_13275-MONDO_0004975-HP_0000006-GENCC_100004"	"HGNC:13275"	"ECE2"	"MONDO:0004975"	"Alzheimer disease"	"MONDO:0004975"	"Alzheimer disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13275"	"ECE2"	"MONDO:0004975"	"Alzheimer's disease susceptibility"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-03-24 00:00:00"	""	""	"32102983, 12464614"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100228"	"2022-10-27"
"GENCC_000105-HGNC_9437-MONDO_0030035-HP_0000006-GENCC_100003"	"HGNC:9437"	"EIF2AK2"	"MONDO:0030035"	"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"MONDO:0030035"	"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9437"	"EIF2AK2"	"MONDO:0030035"	"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-06-10 00:00:00"	""	""	"32197074, 33553620, 33236446, 35146068, 10933401"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100229"	"2022-10-27"
"GENCC_000105-HGNC_3388-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:3388"	"EPHA4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3388"	"EPHA4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100005"	"Disputed Evidence"	"2022-06-17 00:00:00"	""	""	"19344873, 26537360, 28135719, 30542205"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100231"	"2022-10-27"
"GENCC_000105-HGNC_3434-OMIM_601675-HP_0000007-GENCC_100001"	"HGNC:3434"	"ERCC2"	"MONDO:0011125"	"trichothiodystrophy 1, photosensitive"	"OMIM:601675"	"Trichothiodystrophy 1, photosensitive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:3434"	"ERCC2"	"OMIM:601675"	"trichothiodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-10-06 00:00:00"	""	""	"19085937, 8571952, 7920640, 31282071, 9758621, 30919937, 31253769, 9651581"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100232"	"2022-10-27"
"GENCC_000105-HGNC_17944-MONDO_0013853-HP_0000007-GENCC_100001"	"HGNC:17944"	"EXOSC3"	"MONDO:0013853"	"pontocerebellar hypoplasia type 1B"	"MONDO:0013853"	"pontocerebellar hypoplasia type 1B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:17944"	"EXOSC3"	"MONDO:0013853"	"pontocerebellar hypoplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-12-15 00:00:00"	""	""	"22544365, 23284067, 24524299, 28687512, 30025162, 3264500"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100233"	"2022-10-27"
"GENCC_000105-HGNC_16873-MONDO_0015626-HP_0000007-GENCC_100001"	"HGNC:16873"	"FIG4"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:16873"	"FIG4"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-12-09 00:00:00"	""	""	"17572665, 21705420, 23623387, 24598713, 16364647"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100236"	"2022-10-27"
"GENCC_000105-HGNC_4082-MONDO_0020631-HP_0000006-GENCC_100001"	"HGNC:4082"	"GABRB2"	"MONDO:0020631"	"developmental and epileptic encephalopathy 92"	"MONDO:0020631"	"developmental and epileptic encephalopathy 92"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4082"	"GABRB2"	"MONDO:0020631"	"developmental and epileptic encephalopathy 92"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-12-18 00:00:00"	""	""	"25124326, 27789573, 29100083, 33325057, 30013074"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100237"	"2022-10-27"
"GENCC_000105-HGNC_4193-MONDO_0100184-HP_0000006-GENCC_100001"	"HGNC:4193"	"GCH1"	"MONDO:0100184"	"GTP cyclohydrolase I deficiency"	"MONDO:0100184"	"GTP cyclohydrolase I deficiency"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4193"	"GCH1"	"MONDO:0100184"	"GTP cyclohydrolase I deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-16 00:00:00"	""	""	"787416, 15753436, 32278297, 24509643, 30742839"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100238"	"2022-10-27"
"GENCC_000105-HGNC_4214-MONDO_0013463-HP_0000006-GENCC_100008"	"HGNC:4214"	"GDF1"	"MONDO:0013463"	"congenital heart defects, multiple types, 6"	"MONDO:0013463"	"congenital heart defects, multiple types, 6"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4214"	"GDF1"	"MONDO:0013463"	"congenital heart defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2021-12-10 00:00:00"	""	""	"17924340, 10700179"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100239"	"2022-10-27"
"GENCC_000105-HGNC_4241-MONDO_0012518-HP_0000007-GENCC_100001"	"HGNC:4241"	"GFPT1"	"MONDO:0012518"	"congenital myasthenic syndrome 12"	"MONDO:0012518"	"congenital myasthenic syndrome 12"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:4241"	"GFPT1"	"MONDO:0012518"	"congenital myasthenic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-12-16 00:00:00"	""	""	"21310273, 23794683, 29905857"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100241"	"2022-10-27"
"GENCC_000105-HGNC_4318-OMIM_615849-HP_0000006-GENCC_100001"	"HGNC:4318"	"GLI2"	"MONDO:0014369"	"postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	"OMIM:615849"	"Culler-Jones syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4318"	"GLI2"	"OMIM:615849"	"Culler-Jones syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-17 00:00:00"	""	""	"14581620, 20685856, 24744436, 10049354, 9006072"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100242"	"2022-10-27"
"GENCC_000105-HGNC_4387-MONDO_0011234-HP_0000006-GENCC_100003"	"HGNC:4387"	"GNAI3"	"MONDO:0011234"	"auriculocondylar syndrome 1"	"MONDO:0011234"	"auriculocondylar syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4387"	"GNAI3"	"MONDO:0011234"	"auriculocondylar syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-06-22 00:00:00"	""	""	"25026904, 22560091, 23315542, 25026904, 27072656"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100243"	"2022-10-27"
"GENCC_000105-HGNC_4389-MONDO_0005395-HP_0000006-GENCC_100001"	"HGNC:4389"	"GNAO1"	"MONDO:0005395"	"movement disorder"	"MONDO:0005395"	"movement disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4389"	"GNAO1"	"MONDO:0005395"	"movement disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-12 00:00:00"	""	""	"23993195, 25966631, 28668776, 28357411, 3086888, 24700286"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100244"	"2022-10-27"
"GENCC_000105-HGNC_4574-MONDO_0060641-HP_0000006-GENCC_100003"	"HGNC:4574"	"GRIA4"	"MONDO:0060641"	"neurodevelopmental disorder with or without seizures and gait abnormalities"	"MONDO:0060641"	"neurodevelopmental disorder with or without seizures and gait abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4574"	"GRIA4"	"MONDO:0060641"	"neurodevelopmental disorder with or without seizures and gait abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-01-13 00:00:00"	""	""	"29220673, 20662939"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100245"	"2022-10-27"
"GENCC_000105-HGNC_4718-MONDO_0044323-HP_0000006-GENCC_100001"	"HGNC:4718"	"H1-4"	"MONDO:0044323"	"Rahman syndrome"	"MONDO:0044323"	"Rahman syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4718"	"H1-4"	"MONDO:0044323"	"Rahman syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-02 00:00:00"	""	""	"31400068, 31447100, 28475857, 29672823"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100246"	"2022-10-27"
"GENCC_000105-HGNC_4764-OMIM_619720-HP_0000006-GENCC_100001"	"HGNC:4764"	"H3-3A"	"MONDO:0030606"	"Bryant-Li-Bhoj neurodevelopmental syndrome 1"	"OMIM:619720"	"Bryant-Li-Bhoj neurodevelopmental syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4764"	"H3-3A"	"OMIM:619720"	"Bryant-Li-Bhoj neurodevelopmental syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-03-01 00:00:00"	""	""	"31942419, 33268356, 34876591, 23028350"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100247"	"2022-10-27"
"GENCC_000105-HGNC_4839-MONDO_0100284-HP_0001417-GENCC_100001"	"HGNC:4839"	"HCFC1"	"MONDO:0100284"	"X-linked intellectual disability"	"MONDO:0100284"	"X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:4839"	"HCFC1"	"MONDO:0100284"	"X-linked intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-17 00:00:00"	""	""	"23000143, 24011988, 26893841, 28363510, 25740848, 33517344, 25281006, 31207118"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100248"	"2022-10-27"
"GENCC_000105-HGNC_5112-MONDO_0008315-HP_0000006-GENCC_100001"	"HGNC:5112"	"HOXB13"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:5112"	"HOXB13"	"MONDO:0008315"	"prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-07-25 00:00:00"	""	""	"22236224, 22841674, 25629170, 15604291, 30242092"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100249"	"2022-10-27"
"GENCC_000105-HGNC_5246-MONDO_0011687-HP_0000006-GENCC_100001"	"HGNC:5246"	"HSPB1"	"MONDO:0011687"	"Charcot-Marie-Tooth disease axonal type 2F"	"MONDO:0011687"	"Charcot-Marie-Tooth disease axonal type 2F"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:5246"	"HSPB1"	"MONDO:0011687"	"Charcot-Marie-Tooth disease, axonal,  type 2F"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-06-17 00:00:00"	""	""	"15122254, 28144995, 27492805, 26675522, 21785432"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100250"	"2022-10-27"
"GENCC_000105-HGNC_30892-OMIM_309590-HP_0001417-GENCC_100001"	"HGNC:30892"	"HUWE1"	"MONDO:0010407"	"intellectual disability, X-linked syndromic, Turner type"	"OMIM:309590"	"Intellectual developmental disorder, X-linked syndromic, Turner type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:30892"	"HUWE1"	"OMIM:309590"	"X-Linked Syndromic Intellectual Disability, Turner Type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-04 00:00:00"	""	""	"25985138, 27615324, 29180823, 1968668, 20231446, 24303071, 27418510"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100251"	"2022-10-27"
"GENCC_000105-HGNC_5466-MONDO_0014663-HP_0000006-GENCC_100001"	"HGNC:5466"	"IGF2"	"MONDO:0014663"	"Silver-Russell syndrome 3"	"MONDO:0014663"	"Silver-Russell syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:5466"	"IGF2"	"MONDO:0014663"	"Silver-Russel syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-05-17 00:00:00"	""	""	"26154720, 28796236, 30400067, 31544945, 28489339, 30152198, 33567274"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100252"	"2022-10-27"
"GENCC_000105-HGNC_13176-MONDO_0014810-HP_0000006-GENCC_100001"	"HGNC:13176"	"IKZF1"	"MONDO:0014810"	"pancytopenia due to IKZF1 mutations"	"MONDO:0014810"	"pancytopenia due to IKZF1 mutations"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13176"	"IKZF1"	"MONDO:0014810"	"immunodeficiency, common variable"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-10-25 00:00:00"	""	""	"26981933, 21548011, 2892782, 31057532, 29889099, 29705243, 12871645"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100253"	"2022-10-27"
"GENCC_000105-HGNC_6129-OMIM_614429-HP_0000006-GENCC_100004"	"HGNC:6129"	"IRX4"	"MONDO:0013746"	"ventricular septal defect 1"	"OMIM:614429"	"Ventricular septal defect 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6129"	"IRX4"	"OMIM:614429"	"ventricular septal defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-07-13 00:00:00"	""	""	"21544582, 10625552, 11238910"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100254"	"2022-10-27"
"GENCC_000105-HGNC_12313-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:12313"	"JMJD1C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12313"	"JMJD1C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-09-28 00:00:00"	""	""	"26181491, 31954878, 28665350"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100255"	"2022-10-27"
"GENCC_000105-HGNC_13013-MONDO_0014558-HP_0000006-GENCC_100001"	"HGNC:13013"	"KAT6A"	"MONDO:0014558"	"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"MONDO:0014558"	"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13013"	"KAT6A"	"MONDO:0014558"	"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-08-26 00:00:00"	""	""	"25728775, 25728777, 22921202, 16651658"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100256"	"2022-10-27"
"GENCC_000105-HGNC_6217-MONDO_0014534-HP_0000007-GENCC_100001"	"HGNC:6217"	"KATNB1"	"MONDO:0014534"	"lissencephaly 6 with microcephaly"	"MONDO:0014534"	"lissencephaly 6 with microcephaly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:6217"	"KATNB1"	"MONDO:0014534"	"Lissencephaly with microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-09-13 00:00:00"	""	""	"25521378, 26640080, 25521379"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100257"	"2022-10-27"
"GENCC_000105-HGNC_6238-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:6238"	"KCND2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6238"	"KCND2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2022-06-06 00:00:00"	""	""	"24501278, 34245260, 9202119, 19453702"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100258"	"2022-10-27"
"GENCC_000105-HGNC_6250-MONDO_0100485-HP_0000006-GENCC_100002"	"HGNC:6250"	"KCNH1"	"MONDO:0100485"	"KCNH1 associated disorder"	"MONDO:0100485"	"KCNH1 associated disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6250"	"KCNH1"	"MONDO:0100485"	"KCNH1-related disorders"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-01-20 00:00:00"	""	""	"25420144, 25915598, 26264464, 28367272, 18650019, 25420144"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100259"	"2022-10-27"
"GENCC_000105-HGNC_1337-OMIM_618846-HP_0000006-GENCC_100002"	"HGNC:1337"	"KDM3B"	"MONDO:0030012"	"Diets-Jongmans syndrome"	"OMIM:618846"	"Diets-Jongmans syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1337"	"KDM3B"	"OMIM:618846"	"	Diets-Jongmans syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-12-16 00:00:00"	""	""	"30929739, 22615488"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100261"	"2022-10-27"
"GENCC_000105-HGNC_29136-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:29136"	"KDM4B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29136"	"KDM4B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2022-10-17 00:00:00"	""	""	"33232677, 27023172, 33441614"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100262"	"2022-10-27"
"GENCC_000105-HGNC_29012-OMIM_618505-HP_0000006-GENCC_100002"	"HGNC:29012"	"KDM6B"	"MONDO:0032790"	"neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities"	"OMIM:618505"	"Stolerman neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29012"	"KDM6B"	"OMIM:618505"	"neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-10-30 00:00:00"	""	""	"31124279, 28188179, 25176653"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100263"	"2022-10-27"
"GENCC_000105-HGNC_6323-MONDO_0060670-HP_0000006-GENCC_100001"	"HGNC:6323"	"KIF5A"	"MONDO:0060670"	"amyotrophic lateral sclerosis, susceptibility to, 25"	"MONDO:0060670"	"amyotrophic lateral sclerosis, susceptibility to, 25"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6323"	"KIF5A"	"MONDO:0060670"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-12-01 00:00:00"	""	""	"29342275, 29566793, 30301576, 32888732, 22466687, 12682084, 25355224"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100264"	"2022-10-27"
"GENCC_000105-HGNC_6323-MONDO_0014979-HP_0000006-GENCC_100003"	"HGNC:6323"	"KIF5A"	"MONDO:0014979"	"myoclonus, intractable, neonatal"	"MONDO:0014979"	"myoclonus, intractable, neonatal"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6323"	"KIF5A"	"MONDO:0014979"	"intractable neonatal myoclonus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-05-19 00:00:00"	""	""	"27414745, 27463701, 33681666, 29342275, 24161670, 25355224, 12682084, 23217743"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100265"	"2022-10-27"
"GENCC_000105-HGNC_15646-MONDO_0014890-HP_0000007-GENCC_100001"	"HGNC:15646"	"KLHL7"	"MONDO:0014890"	"PERCHING syndrome"	"MONDO:0014890"	"PERCHING syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:15646"	"KLHL7"	"MONDO:0014890"	"PERCHING syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-04-29 00:00:00"	""	""	"27392078, 29074562, 30300710, 21828050"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100266"	"2022-10-27"
"GENCC_000105-HGNC_13726-OMIM_617768-HP_0000006-GENCC_100003"	"HGNC:13726"	"KMT2C"	"MONDO:0054701"	"Kleefstra syndrome 2"	"OMIM:617768"	"Kleefstra syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13726"	"KMT2C"	"OMIM:617768"	"Kleestra syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-07-13 00:00:00"	""	""	"29069077, 25326635"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100267"	"2022-10-27"
"GENCC_000105-HGNC_6412-MONDO_0007239-HP_0000006-GENCC_100003"	"HGNC:6412"	"KRT1"	"MONDO:0007239"	"epidermolytic ichthyosis"	"MONDO:0007239"	"epidermolytic ichthyosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6412"	"KRT1"	"MONDO:0007239"	"epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-06-22 00:00:00"	""	""	"8751983, 16361731, 21271994, 7512983, 26120802, 30288772, 32898404, 26581228, 28121638, 12406348, 15214894, 20977447, 23132931, 22375063"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100268"	"2022-10-27"
"GENCC_000105-HGNC_6494-OMIM_614115-HP_0000007-GENCC_100001"	"HGNC:6494"	"LAMC3"	"MONDO:0013583"	"occipital pachygyria and polymicrogyria"	"OMIM:614115"	"Cortical malformations, occipital"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:6494"	"LAMC3"	"OMIM:614115"	"Cortical malformations, occipital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-16 00:00:00"	""	""	"21572413, 26802095, 29247375, 29417095, 22961762"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100269"	"2022-10-27"
"GENCC_000105-HGNC_6698-OMIM_616724-HP_0000006 -GENCC_100001"	"HGNC:6698"	"LRP6"	"MONDO:0005486"	"tooth agenesis"	"OMIM:616724"	"Tooth agenesis, selective, 7"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6698"	"LRP6"	"OMIM:616724"	"tooth agenesis, selective, 7"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-09-23 00:00:00"	""	""	"26387593, 26963285, 34285199, 33164649"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100270"	"2022-10-27"
"GENCC_000105-HGNC_6814-MONDO_0014243-HP_0000006 -GENCC_100001"	"HGNC:6814"	"MAGEL2"	"MONDO:0014243"	"Schaaf-Yang syndrome"	"MONDO:0014243"	"Schaaf-Yang syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6814"	"MAGEL2"	"MONDO:0014243"	"Schaaf-Yang syndrome"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-31 00:00:00"	""	""	"24076603, 27195816, 31397880, 32804975, 20876615"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100271"	"2022-10-27"
"GENCC_000105-HGNC_6859-OMIM_617137-HP_0000006 -GENCC_100002"	"HGNC:6859"	"MAP3K7"	"MONDO:0015942"	"frontometaphyseal dysplasia"	"OMIM:617137"	"Frontometaphyseal dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6859"	"MAP3K7"	"OMIM:617137"	"frontometaphyseal dysplasia 2"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-07-19 00:00:00"	""	""	"27426733, 29660408, 25418008, 20552513"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100273"	"2022-10-27"
"GENCC_000105-HGNC_16050-OMIM_618872-HP_0000006 -GENCC_100003"	"HGNC:16050"	"MED12L"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"OMIM:618872"	"Nizon-Isidor syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16050"	"MED12L"	"OMIM:618872"	"Nizon-Isidor syndrome"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-06-16 00:00:00"	""	""	"31155615, 28778422"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100274"	"2022-10-27"
"GENCC_000105-HGNC_22474-OMIM_618009-HP_0000006 -GENCC_100002"	"HGNC:22474"	"MED13"	"MONDO:0032485"	"intellectual developmental disorder 61"	"OMIM:618009"	"Intellectual developmental disorder, autosomal dominant 61"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:22474"	"MED13"	"OMIM:618009"	"intellectual developmental disorder, autosomal dominant 61"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-06-23 00:00:00"	""	""	"29740699, 11171343, 30905399"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100275"	"2022-10-27"
"GENCC_000105-HGNC_7001-OMIM_600987-HP_0000006 -GENCC_100001"	"HGNC:7001"	"MEIS2"	"MONDO:0010970"	"cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies"	"OMIM:600987"	"Cleft palate, cardiac defects, and impaired intellectual development"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7001"	"MEIS2"	"OMIM:600987"	"cleft palate, cardiac defects, and intellectual disability"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-01-12 00:00:00"	""	""	"27225850, 30735726, 30291340, 25712757, 30055086, 32169905, 26545946"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100276"	"2022-10-27"
"GENCC_000105-HGNC_3942-OMIM_616638-HP_0000006 -GENCC_100001"	"HGNC:3942"	"MTOR"	"MONDO:0014716"	"macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"	"OMIM:616638"	"Smith-Kingsmore syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:3942"	"MTOR"	"OMIM:616638"	"Smith-Kingsmore syndrome"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-17 00:00:00"	""	""	"25851998, 27830187, 27753196, 26542245, 27159400, 28892148"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100277"	"2022-10-27"
"GENCC_000105-HGNC_7572-OMIM_605637-HP_0000006 -GENCC_100004"	"HGNC:7572"	"MYH2"	"MONDO:0019195"	"hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"	"OMIM:605637"	"Congenital myopathy 6 with ophthalmoplegia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7572"	"MYH2"	"OMIM:605637"	"proximal myopathy and ophthalmoplegia"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2019-03-20 00:00:00"	""	""	"7545970, 8253205, 23489661, 25529940, 1111417"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100278"	"2022-10-27"
"GENCC_000105-HGNC_15625-MONDO_0013889-HP_0000007-GENCC_100001"	"HGNC:15625"	"NBAS"	"MONDO:0013889"	"short stature-optic atrophy-Pelger-HuC+t anomaly syndrome"	"MONDO:0013889"	"short stature-optic atrophy-Pelger-HuC+t anomaly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:15625"	"NBAS"	"MONDO:0013889"	"short stature, optic nerve atrophy and Pelger-Hüet anomaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-06-02 00:00:00"	""	""	"27789416, 26073778, 26286438, 31761904, 29929043, 21227923"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100279"	"2022-10-27"
"GENCC_000105-HGNC_21904-OMIM_618460-HP_0000007-GENCC_100004"	"HGNC:21904"	"NCAPG2"	"MONDO:0032764"	"Khan-Khan-Katsanis syndrome"	"OMIM:618460"	"Khan-Khan-Katsanis syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:21904"	"NCAPG2"	"OMIM:618460"	"Khan-Khan-Katsanis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-04-29 00:00:00"	""	""	"30609410"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100280"	"2022-10-27"
"GENCC_000105-HGNC_7679-MONDO_0011085-HP_0000007-GENCC_100001"	"HGNC:7679"	"NDRG1"	"MONDO:0011085"	"Charcot-Marie-Tooth disease type 4D"	"MONDO:0011085"	"Charcot-Marie-Tooth disease type 4D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:7679"	"NDRG1"	"MONDO:0011085"	"Charcot-Marie-Tooth disease type 4D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-12-12 00:00:00"	""	""	"10831399, 12872253, 24136616, 28776325, 27982524, 15082788, 21303696"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100281"	"2022-10-27"
"GENCC_000105-HGNC_7782-OMIM_617744-HP_0000006 -GENCC_100004"	"HGNC:7782"	"NFE2L2"	"MONDO:0060591"	"immunodeficiency, developmental delay, and hypohomocysteinemia"	"OMIM:617744"	"Immunodeficiency, developmental delay, and hypohomocysteinemia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7782"	"NFE2L2"	"OMIM:617744"	"immunodeficiency, developmental delay, and hypohomocysteinemia"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-01-14 00:00:00"	""	""	"29018201, 19344873"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100282"	"2022-10-27"
"GENCC_000105-HGNC_7784-OMIM_613735-HP_0000006 -GENCC_100001"	"HGNC:7784"	"NFIA"	"MONDO:0013396"	"chromosome 1p32-p31 deletion syndrome"	"OMIM:613735"	"Brain malformations with or without urinary tract defects"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7784"	"NFIA"	"OMIM:613735"	"brain malformations with or without urinary tract defects"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-02 00:00:00"	""	""	"25714559, 24462883, 27081522, 28941020, 28452798, 22031302, 17530927, 10518556, 30388402, 15632069, 30388402"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100283"	"2022-10-27"
"GENCC_000105-HGNC_14289-MONDO_0100148-HP_0001417-GENCC_100003"	"HGNC:14289"	"NLGN3"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:14289"	"NLGN3"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-06-06 00:00:00"	""	""	"25363768, 28263302, 25533962, 24126926, 12669065, 19360662, 21808020, 24773431"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100284"	"2022-10-27"
"GENCC_000105-HGNC_24969-OMIM_617116-HP_0000006 -GENCC_100003"	"HGNC:24969"	"NPRL2"	"MONDO:0020310"	"familial focal epilepsy with variable foci"	"OMIM:617116"	"Epilepsy, familial focal, with variable foci 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:24969"	"NPRL2"	"OMIM:617116"	"familial focal epilepsy with variable foci 2"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-07-17 00:00:00"	""	""	"26505888, 28199897, 30093711, 27173016, 29590090"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100285"	"2022-10-27"
"GENCC_000105-HGNC_24613-MONDO_0030033-HP_0000007-GENCC_100002"	"HGNC:24613"	"NRROS"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:24613"	"NRROS"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-06-14 00:00:00"	""	""	"32197075, 32100099, 28459434, 29909984"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100286"	"2022-10-27"
"GENCC_000105-HGNC_26221-MONDO_0010568-HP_0000006 -GENCC_100004"	"HGNC:26221"	"OCEL1"	"MONDO:0010568"	"Aicardi syndrome"	"MONDO:0010568"	"Aicardi syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:26221"	"OCEL1"	"MONDO:0010568"	"Aicardi syndrome"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-01-11 00:00:00"	""	""	"26091538"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100287"	"2022-10-27"
"GENCC_000105-HGNC_18145-OMIM_301900-HP_0001417-GENCC_100001"	"HGNC:18145"	"PHF6"	"MONDO:0010537"	"Borjeson-Forssman-Lehmann syndrome"	"OMIM:301900"	"Borjeson-Forssman-Lehmann syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:18145"	"PHF6"	"OMIM:301900"	"Borjeson-Forssman-Lehmann syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-08-06 00:00:00"	""	""	"25099957, 23791194"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100288"	"2022-10-27"
"GENCC_000105-HGNC_26270-OMIM_617146-HP_0000007-GENCC_100001"	"HGNC:26270"	"PIEZO2"	"MONDO:0014941"	"arthrogryposis, distal, with impaired proprioception and touch"	"OMIM:617146"	"Arthrogryposis, distal, with impaired proprioception and touch"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:26270"	"PIEZO2"	"OMIM:617146"	"distal arthrogryposis with impaired proprioception and touch"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-07-28 00:00:00"	""	""	"27653382, 27843126, 27607563, 30941898, 25471886, 26551544"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100289"	"2022-10-27"
"GENCC_000105-HGNC_8957-OMIM_300868-HP_0001417-GENCC_100003"	"HGNC:8957"	"PIGA"	"MONDO:0010466"	"multiple congenital anomalies-hypotonia-seizures syndrome 2"	"OMIM:300868"	"Multiple congenital anomalies-hypotonia-seizures syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:8957"	"PIGA"	"OMIM:300868"	"multiple congenital anomalies-hypotonia-seizures syndrome 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-03-12 00:00:00"	""	""	"22305531, 24706016, 24357517, 26993267, 26545172, 28441409"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100290"	"2022-10-27"
"GENCC_000105-HGNC_8980-MONDO_0011313-HP_0000006 -GENCC_100001"	"HGNC:8980"	"PIK3R2"	"MONDO:0011313"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	"MONDO:0011313"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:8980"	"PIK3R2"	"MONDO:0011313"	"megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-10-21 00:00:00"	""	""	"22729224, 23745724, 26520804, 32856318, 31441589"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100291"	"2022-10-27"
"GENCC_000105-HGNC_17663-OMIM_619405-HP_0000007-GENCC_100004"	"HGNC:17663"	"PITRM1"	"MONDO:0030318"	"spinocerebellar ataxia, autosomal recessive 30"	"OMIM:619405"	"Spinocerebellar ataxia, autosomal recessive 30"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:17663"	"PITRM1"	"OMIM:619405"	"spinocerebellar ataxia, autosomal recessive 30"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-07-20 00:00:00"	""	""	"26697887, 29764912, 33835239, 16849325"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100292"	"2022-10-27"
"GENCC_000105-HGNC_29515-MONDO_0014766-HP_0000007-GENCC_100004"	"HGNC:29515"	"PLEKHG2"	"MONDO:0014766"	"leukodystrophy and acquired microcephaly with or without dystonia;"	"MONDO:0014766"	"leukodystrophy and acquired microcephaly with or without dystonia;"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:29515"	"PLEKHG2"	"MONDO:0014766"	"leukodystrophy and acquired microcephaly with or without dystonia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-05-26 00:00:00"	""	""	"26573021"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100293"	"2022-10-27"
"GENCC_000105-HGNC_9180-MONDO_0018158-HP_0032113 -GENCC_100003"	"HGNC:9180"	"POLG2"	"MONDO:0018158"	"mitochondrial DNA depletion syndrome"	"MONDO:0018158"	"mitochondrial DNA depletion syndrome"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:9180"	"POLG2"	"MONDO:0018158"	"mitochondrial DNA depletion syndrome"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-03-03 00:00:00"	""	""	"27592148, 16685652, 20405137, 21555342, 28078310, 23197651, 28215579, 11917141"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100295"	"2022-10-27"
"GENCC_000105-HGNC_30074-OMIM_607694-HP_0000007-GENCC_100001"	"HGNC:30074"	"POLR3A"	"MONDO:0019177"	"odontoleukodystrophy"	"OMIM:607694"	"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:30074"	"POLR3A"	"OMIM:607694"	"leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-08-03 00:00:00"	""	""	"30847471, 31637490, 27029625, 28459997, 29691679, 31438894, 21855841, 22855961"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100296"	"2022-10-27"
"GENCC_000105-HGNC_30348-MONDO_0013722-HP_0000007-GENCC_100001"	"HGNC:30348"	"POLR3B"	"MONDO:0013722"	"hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"	"MONDO:0013722"	"hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:30348"	"POLR3B"	"MONDO:0013722"	"hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-01-19 00:00:00"	""	""	"22036171, 22036172, 26478204, 23355746, 31221184, 18044988"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100297"	"2022-10-27"
"GENCC_000105-HGNC_9216-OMIM_618604-HP_0000006 -GENCC_100002"	"HGNC:9216"	"POU3F3"	"MONDO:0032830"	"snijders blok-fisher syndrome"	"OMIM:618604"	"Snijders Blok-Fisher syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9216"	"POU3F3"	"OMIM:618604"	"Snijders Blok-Fisher syndrome"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-04-15 00:00:00"	""	""	"31303265, 22892427, 12130536"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100298"	"2022-10-27"
"GENCC_000105-HGNC_9302-OMIM_616362-HP_0000006 -GENCC_100001"	"HGNC:9302"	"PPP2R1A"	"MONDO:0014605"	"Houge-Janssens syndrome 2"	"OMIM:616362"	"Houge-Janssens syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9302"	"PPP2R1A"	"OMIM:616362"	"intellectual developmental disorder, autosomal dominant 36"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-03-26 00:00:00"	""	""	"25533962, 26168268, 31531803, 31687265"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100300"	"2022-10-27"
"GENCC_000105-HGNC_13997-OMIM_616488-HP_0000007-GENCC_100001"	"HGNC:13997"	"PRDM12"	"MONDO:0015364"	"hereditary sensory and autonomic neuropathy"	"OMIM:616488"	"Neuropathy, hereditary sensory and autonomic, type VIII"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13997"	"PRDM12"	"OMIM:616488"	"neuropathy, hereditary sensory and autonomic, type VIII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-01-22 00:00:00"	""	""	"26005867, 31128170, 28807049, 25891934"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100301"	"2022-10-27"
"GENCC_000105-HGNC_14000-MONDO_0014152-HP_0000006 -GENCC_100003"	"HGNC:14000"	"PRDM16"	"MONDO:0014152"	"left ventricular noncompaction 8"	"MONDO:0014152"	"left ventricular noncompaction 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:14000"	"PRDM16"	"MONDO:0014152"	"left ventricular noncompaction 8"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-12-14 00:00:00"	""	""	"23768516, 29367541, 31965688, 27642787, 29447731"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100302"	"2022-10-27"
"GENCC_000105-HGNC_9388-OMIM_101800-HP_0000006 -GENCC_100001"	"HGNC:9388"	"PRKAR1A"	"MONDO:0017240"	"acrodysostosis with multiple hormone resistance"	"OMIM:101800"	"Acrodysostosis 1, with or without hormone resistance"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9388"	"PRKAR1A"	"OMIM:101800"	"acrodysostosis 1, with or without hormone resistance"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-22 00:00:00"	""	""	"21651393, 23043190, 22464252, 22723333, 27589370"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100303"	"2022-10-27"
"GENCC_000105-HGNC_9462-MONDO_0100061-HP_0001417-GENCC_100001"	"HGNC:9462"	"PRPS1"	"MONDO:0100061"	"PRPS1 deficiency disorder"	"MONDO:0100061"	"PRPS1 deficiency disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:9462"	"PRPS1"	"MONDO:0100061"	"PRPS1 deficiency disorder"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-27 00:00:00"	""	""	"17701896, 2452885, 27256512, 22246954, 20021999, 17701900"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100304"	"2022-10-27"
"GENCC_000105-HGNC_9475-MONDO_0008185-HP_0000006 -GENCC_100001"	"HGNC:9475"	"PRSS1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9475"	"PRSS1"	"MONDO:0008185"	"hereditary Pancreatitis"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-12-15 00:00:00"	""	""	"8841182, 10204851, 12413370, 11073545, 17069643, 22539344, 11719509"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100306"	"2022-10-27"
"GENCC_000105-HGNC_9477-MONDO_0000509-HP_0000007-GENCC_100004"	"HGNC:9477"	"PRSS12"	"MONDO:0000509"	"non-syndromic intellectual disability"	"MONDO:0000509"	"non-syndromic intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:9477"	"PRSS12"	"MONDO:0000509"	"non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-08-04 00:00:00"	""	""	"12459588"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100307"	"2022-10-27"
"GENCC_000105-HGNC_9585-OMIM_610828-HP_0000006 -GENCC_100004"	"HGNC:9585"	"PTCH1"	"MONDO:0016296"	"holoprosencephaly"	"OMIM:610828"	"Holoprosencephaly 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:9585"	"PTCH1"	"OMIM:610828"	"holoprosencephaly 7"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-05-17 00:00:00"	""	""	"11941477, 17001668, 16405370, 18830227, 28496998, 8906794"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100308"	"2022-10-27"
"GENCC_000105-HGNC_14957-OMIM_617931-HP_0000006 -GENCC_100003"	"HGNC:14957"	"PUM1"	"MONDO:0033482"	"spinocerebellar ataxia 47"	"OMIM:617931"	"Spinocerebellar ataxia 47"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:14957"	"PUM1"	"OMIM:617931"	"spinocerebellar ataxia 47"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-05-24 00:00:00"	""	""	"31859446, 29474920, 30903679, 31422002, 25768905"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100309"	"2022-10-27"
"GENCC_000105-HGNC_30262-OMIM_616420-HP_0000007-GENCC_100001"	"HGNC:30262"	"PYCR2"	"MONDO:0014632"	"hypomyelinating leukodystrophy 10"	"OMIM:616420"	"Leukodystrophy, hypomyelinating, 10"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:30262"	"PYCR2"	"OMIM:616420"	"leukodystrophy, hypomyelinating, 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-01-08 00:00:00"	""	""	"25865492, 27130255, 27860360, 31918782, 28496993, "	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100310"	"2022-10-27"
"GENCC_000105-HGNC_17282-OMIM_603649-HP_0000006 -GENCC_100005"	"HGNC:17282"	"RIMS1"	"MONDO:0011355"	"cone-rod dystrophy 7"	"OMIM:603649"	"Cone-rod dystrophy 7"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17282"	"RIMS1"	"OMIM:603649"	"cone-rod dystrophy 7"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100005"	"Disputed"	"2021-04-15 00:00:00"	""	""	"12659814, 27176872, 28677725, 17237123, 15066271, 18799741, 26400943, 28607399, "	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100311"	"2022-10-27"
"GENCC_000105-HGNC_10018-MONDO_0100038-HP_0000005 -GENCC_100004"	"HGNC:10018"	"RING1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000105"	"Illumina"	"HGNC:10018"	"RING1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000005 "	"Unknown inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-07-14 00:00:00"	""	""	"29386386, 25725044, 26674308, 11060235, "	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100312"	"2022-10-27"
"GENCC_000105-HGNC_13429-OMIM_300978-HP_0001417-GENCC_100001"	"HGNC:13429"	"RLIM"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"OMIM:300978"	"Tonne-Kalscheuer syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:13429"	"RLIM"	"OMIM:300978"	"Tonne-Kalscheuer syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-24 00:00:00"	""	""	"25735484, 29728705, 2029742418"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100313"	"2022-10-27"
"GENCC_000105-HGNC_21686-OMIM_612951-HP_0000007-GENCC_100001"	"HGNC:21686"	"RNASET2"	"MONDO:0013058"	"cystic leukoencephalopathy without megalencephaly"	"OMIM:612951"	"Leukoencephalopathy, cystic, without megalencephaly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:21686"	"RNASET2"	"OMIM:612951"	"leukoencephalopathy, cystic, without megalencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-02 00:00:00"	""	""	"19525954, 31349848, 27091087, 21199949, 32212285"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100314"	"2022-10-27"
"GENCC_000105-HGNC_34016-MONDO_0014722-HP_0000007-GENCC_100001"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0014722"	"Roifman syndrome"	"MONDO:0014722"	"Roifman syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0014722"	"Roifman syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-01-28 00:00:00"	""	""	"26522830, 28623346, 30455926, 29391254, 27571260, 29263834"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100315"	"2022-10-27"
"GENCC_000105-HGNC_34033-MONDO_0030362-HP_0000007-GENCC_100003"	"HGNC:34033"	"RNU7-1"	"MONDO:0030362"	"Aicardi-Goutieres syndrome 9"	"MONDO:0030362"	"Aicardi-Goutieres syndrome 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:34033"	"RNU7-1"	"MONDO:0030362"	"Aicardi–Goutières syndrome 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-06-26 00:00:00"	""	""	"33230297, 33230301"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100316"	"2022-10-27"
"GENCC_000105-HGNC_10351-MONDO_0030300-HP_0000007-GENCC_100004"	"HGNC:10351"	"RPL3L"	"MONDO:0030300"	"cardiomyopathy, dilated, 2D"	"MONDO:0030300"	"cardiomyopathy, dilated, 2D"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:10351"	"RPL3L"	"MONDO:0030300"	"dilated cardiomyopathy, 2D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-11-09 00:00:00"	""	""	"32514796"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100317"	"2022-10-27"
"GENCC_000105-HGNC_23625-MONDO_0030915-HP_0000007-GENCC_100004"	"HGNC:23625"	"RUSC2"	"MONDO:0030915"	"intellectual disability, autosomal recessive 61"	"MONDO:0030915"	"intellectual disability, autosomal recessive 61"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:23625"	"RUSC2"	"MONDO:0030915"	"intellectual disability, autosomal recessive 61"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-02-15 00:00:00"	""	""	"27612186"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100318"	"2022-10-27"
"GENCC_000105-HGNC_10586-MONDO_0011416-HP_0000006 -GENCC_100003"	"HGNC:10586"	"SCN1B"	"MONDO:0011416"	"generalized epilepsy with febrile seizures plus, type 1"	"MONDO:0011416"	"generalized epilepsy with febrile seizures plus, type 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10586"	"SCN1B"	"MONDO:0011416"	"epilepsy, generalized, with febrile seizures plus, type 1"	"HP:0000006 "	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-02-17 00:00:00"	""	""	"14504340, 17020904, 21040232, 12011299, 16359473, 15102918"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100319"	"2022-10-27"
"GENCC_000105-HGNC_10588-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:10588"	"SCN2A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10588"	"SCN2A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-12-08 00:00:00"	""	""	"19783390, 19786696, 28379373, 11166117"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100320"	"2022-10-27"
"GENCC_000105-HGNC_10590-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:10590"	"SCN3A"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10590"	"SCN3A"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-08-02 00:00:00"	""	""	"18242854, 28235671, 29466837, 27848944, 10842222, 32227486, 30146301"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100321"	"2022-10-27"
"GENCC_000105-HGNC_10680-MONDO_0013602-HP_0000006-GENCC_100001"	"HGNC:10680"	"SDHA"	"MONDO:0013602"	"paragangliomas 5"	"MONDO:0013602"	"paragangliomas 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10680"	"SDHA"	"MONDO:0013602"	"paragangliomas 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-03-11 00:00:00"	""	""	"29177515, 30854332, 20484225, 20301715"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100322"	"2022-10-27"
"GENCC_000105-HGNC_10808-MONDO_0008044-HP_0000006-GENCC_100001"	"HGNC:10808"	"SGCE"	"MONDO:0008044"	"myoclonic dystonia 11"	"MONDO:0008044"	"myoclonic dystonia 11"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:10808"	"SGCE"	"MONDO:0008044"	"myoclonus dystonia 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-13 00:00:00"	""	""	"11528394, 19066193, 18205193, 15258227, 16099459"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100323"	"2022-10-27"
"GENCC_000105-HGNC_19353-MONDO_0044699-HP_0000006-GENCC_100001"	"HGNC:19353"	"SIN3A"	"MONDO:0044699"	"SIN3A-related intellectual disability syndrome"	"MONDO:0044699"	"SIN3A-related intellectual disability syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:19353"	"SIN3A"	"MONDO:0044699"	"SIN3A-related intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-05-06 00:00:00"	""	""	"27399968, 33437032, 9620804"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100324"	"2022-10-27"
"GENCC_000105-HGNC_13818-MONDO_0014718-HP_0000007-GENCC_100003"	"HGNC:13818"	"SLC12A5"	"MONDO:0014718"	"developmental and epileptic encephalopathy, 34"	"MONDO:0014718"	"developmental and epileptic encephalopathy, 34"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:13818"	"SLC12A5"	"MONDO:0014718"	"epilepsy of infancy with migrating focal seizures (EIMFS)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-11-25 00:00:00"	""	""	"26333769, 27436767, 28477354, 22547529, 11395011"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100325"	"2022-10-27"
"GENCC_000105-HGNC_13818-MONDO_0014734-HP_0000006-GENCC_100008"	"HGNC:13818"	"SLC12A5"	"MONDO:0014734"	"epilepsy, idiopathic generalized, susceptibility to, 14"	"MONDO:0014734"	"epilepsy, idiopathic generalized, susceptibility to, 14"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13818"	"SLC12A5"	"MONDO:0014734"	"epilepsy, idiopathic generalized, susceptibility to, 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2020-10-28 00:00:00"	""	""	"12000122, 22547529, 24928908, 24668262, 15813942, 16943550, 28279020"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100326"	"2022-10-27"
"GENCC_000105-HGNC_95-MONDO_0012928-HP_0000006-GENCC_100004"	"HGNC:95"	"SLC33A1"	"MONDO:0012928"	"hereditary spastic paraplegia 42"	"MONDO:0012928"	"hereditary spastic paraplegia 42"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:95"	"SLC33A1"	"MONDO:0012928"	"hereditary spastic paraplegia 42"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-04-27 00:00:00"	""	""	"19061983, 25402622, 27935820"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100327"	"2022-10-27"
"GENCC_000105-HGNC_11042-MONDO_0014633-HP_0000006-GENCC_100001"	"HGNC:11042"	"SLC6A1"	"MONDO:0014633"	"epilepsy with myoclonic atonic seizures"	"MONDO:0014633"	"epilepsy with myoclonic atonic seizures"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11042"	"SLC6A1"	"MONDO:0014633"	"myoclonic-atonic epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-24 00:00:00"	""	""	"25865495, 29315614, 30132828, 32398021, 12815026, 15788781, 16683252, 18248614"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100328"	"2022-10-27"
"GENCC_000105-HGNC_31399-OMIM_616269-HP_0000007-GENCC_100004"	"HGNC:31399"	"SLC6A17"	"MONDO:0014559"	"progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"	"OMIM:616269"	"Intellectual developmental disorder, autosomal recessive 48"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:31399"	"SLC6A17"	"OMIM:616269"	"intellectual developmental disorder, autosomal recessive 48	"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-02-15 00:00:00"	""	""	"25704603, 23672601"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100329"	"2022-10-27"
"GENCC_000105-HGNC_11100-OMIM_614609-HP_0000006-GENCC_100001"	"HGNC:11100"	"SMARCA4"	"MONDO:0015452"	"Coffin-Siris syndrome"	"OMIM:614609"	"Coffin-Siris syndrome 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11100"	"SMARCA4"	"OMIM:614609"	"Coffin-Siris syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-10 00:00:00"	""	""	"22426308, 23637025, 24700502, 25724810, 16287714, 19171905"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100331"	"2022-10-27"
"GENCC_000105-HGNC_11105-MONDO_0032702-HP_0000006-GENCC_100001"	"HGNC:11105"	"SMARCC2"	"MONDO:0032702"	"Coffin-Siris syndrome 8"	"MONDO:0032702"	"Coffin-Siris syndrome 8"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11105"	"SMARCC2"	"MONDO:0032702"	"Coffin-Siris syndrome 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-06-11 00:00:00"	""	""	"30580808, 25590979, 27620904, 27392482, 23643363"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100332"	"2022-10-27"
"GENCC_000105-HGNC_30587-MONDO_0013787-HP_0000007-GENCC_100004"	"HGNC:30587"	"SNIP1"	"MONDO:0013787"	"psychomotor retardation, epilepsy, and craniofacial dysmorphism"	"MONDO:0013787"	"psychomotor retardation, epilepsy, and craniofacial dysmorphism"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:30587"	"SNIP1"	"MONDO:0013787"	"psychomotor retardation, epilepsy and craniofacial dysmorphism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Moderate"	"2022-03-22 00:00:00"	""	""	"22279524, 21831412, 34570759, 29969449 "	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100334"	"2022-10-27"
"GENCC_000105-HGNC_11195-MONDO_0008799-HP_0000006-GENCC_100001"	"HGNC:11195"	"SOX2"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11195"	"SOX2"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-02-11 00:00:00"	""	""	"15812812, 16932809, 18385377, 20454695, 20803647, 21919124, 16651659, 20454695"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100335"	"2022-10-27"
"GENCC_000105-HGNC_11200-MONDO_0032791-HP_0000006-GENCC_100003"	"HGNC:11200"	"SOX4"	"MONDO:0032791"	"Coffin-Siris syndrome 10"	"MONDO:0032791"	"Coffin-Siris syndrome 10"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11200"	"SOX4"	"MONDO:0032791"	"Coffin-Siris syndrome 10"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-07-15 00:00:00"	""	""	"30661772, 29079881"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100336"	"2022-10-27"
"GENCC_000105-HGNC_16421-MONDO_0033544-HP_0000006-GENCC_100002"	"HGNC:16421"	"SOX6"	"MONDO:0033544"	"Tolchin-Le Caignec syndrome"	"MONDO:0033544"	"Tolchin-Le Caignec syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16421"	"SOX6"	"MONDO:0033544"	"Tolchin-Le Caignec syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-10-22 00:00:00"	""	""	"25439488, 32442410, 19709629, 31288943, 11702786"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100337"	"2022-10-27"
"GENCC_000105-HGNC_11233-MONDO_0008438-HP_0000006-GENCC_100001"	"HGNC:11233"	"SPAST"	"MONDO:0008438"	"hereditary spastic paraplegia 4"	"MONDO:0008438"	"hereditary spastic paraplegia 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11233"	"SPAST"	"MONDO:0008438"	"hereditary spastic paraplegia 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-04-07 00:00:00"	""	""	"10610178, 10699187, 26600529, 11309678, 12202986, 19453301"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100338"	"2022-10-27"
"GENCC_000105-HGNC_29022-OMIM_145420-HP_0000006-GENCC_100001"	"HGNC:29022"	"SPECC1L"	"MONDO:0007780"	"hypertelorism, Teebi type"	"OMIM:145420"	"Teebi hypertelorism syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29022"	"SPECC1L"	"OMIM:145420"	"Teebi hypertelorism syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-08-20 00:00:00"	""	""	"30472488, 31953237, 25412741, 21703590, 25357034"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100339"	"2022-10-27"
"GENCC_000105-HGNC_11280-MONDO_0014940-HP_0000007-GENCC_100001"	"HGNC:11280"	"SQSTM1"	"MONDO:0014940"	"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"MONDO:0014940"	"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11280"	"SQSTM1"	"MONDO:0014940"	"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-18 00:00:00"	""	""	"27545679, 29959261, 18346206"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100341"	"2022-10-27"
"GENCC_000105-HGNC_11367-MONDO_0100210-HP_0032113 -GENCC_100001"	"HGNC:11367"	"STAT5B"	"MONDO:0100210"	"growth hormone insensitivity syndrome with immune dysregulation"	"MONDO:0100210"	"growth hormone insensitivity syndrome with immune dysregulation"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:11367"	"STAT5B"	"MONDO:0100210"	"growth hormone insensitivity syndrome with immune dysregulation"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-02-18 00:00:00"	""	""	"29844444, 13679528, 15827093, 20538865, 16787985, 17389811, 9630227, 16418296, 16920911"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100342"	"2022-10-27"
"GENCC_000105-HGNC_17101-MONDO_0032916-HP_0000006-GENCC_100001"	"HGNC:17101"	"SUZ12"	"MONDO:0032916"	"Imagawa-Matsumoto syndrome"	"MONDO:0032916"	"Imagawa-Matsumoto syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17101"	"SUZ12"	"MONDO:0032916"	"Imagawa-Matsumoto syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-07-14 00:00:00"	""	""	"28229514, 30019515, 31736240, 19344873"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100343"	"2022-10-27"
"GENCC_000105-HGNC_17089-MONDO_0013071-HP_0000006-GENCC_100004"	"HGNC:17089"	"SYNE1"	"MONDO:0013071"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"MONDO:0013071"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17089"	"SYNE1"	"MONDO:0013071"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-06-18 00:00:00"	""	""	"17761684, 31110749, 31840275"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100344"	"2022-10-27"
"GENCC_000105-HGNC_17084-MONDO_0013072-HP_0000006-GENCC_100008"	"HGNC:17084"	"SYNE2"	"MONDO:0013072"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"MONDO:0013072"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17084"	"SYNE2"	"MONDO:0013072"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2020-11-04 00:00:00"	""	""	"31840275,  17761684, 32184094 "	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100345"	"2022-10-27"
"GENCC_000105-HGNC_29040-MONDO_0014201-HP_0000007-GENCC_100001"	"HGNC:29040"	"SZT2"	"MONDO:0014201"	"developmental and epileptic encephalopathy, 18"	"MONDO:0014201"	"developmental and epileptic encephalopathy, 18"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:29040"	"SZT2"	"MONDO:0014201"	"developmental and epileptic encephalopathy, 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-10-20 00:00:00"	""	""	"23932106, 27248490, 28556953, 28893434, 19624305, 28199315"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100346"	"2022-10-27"
"GENCC_000105-HGNC_17075-MONDO_0014000-HP_0000006-GENCC_100003"	"HGNC:17075"	"TAB2"	"MONDO:0014000"	"congenital heart defects, multiple types, 2"	"MONDO:0014000"	"congenital heart defects, multiple types, 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17075"	"TAB2"	"MONDO:0014000"	"congenital heart defects, multiple types, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-12-16 00:00:00"	""	""	"27452334, 2970098, 28386937, 30384889, 31959127, 33131162, 32860008, 20493459"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100347"	"2022-10-27"
"GENCC_000105-HGNC_11535-MONDO_0010500-HP_0001417-GENCC_100001"	"HGNC:11535"	"TAF1"	"MONDO:0010500"	"intellectual disability, X-linked, syndromic 33"	"MONDO:0010500"	"intellectual disability, X-linked, syndromic 33"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:11535"	"TAF1"	"MONDO:0010500"	"intellectual disability, X-linked, syndromic 33"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-02-01 15:15:48"	""	""	"26637982, 25644381, 31341187, 32714589, 30805980, 33098347, 30315573, 31646703, 32396742, 31344492"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100348"	"2022-10-27"
"GENCC_000105-HGNC_30212-MONDO_0030051-HP_0000006-GENCC_100002"	"HGNC:30212"	"TANC2"	"MONDO:0030051"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"MONDO:0030051"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30212"	"TANC2"	"MONDO:0030051"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2019-12-12 00:00:00"	""	""	"31616000, 30021165, 21068316"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100349"	"2022-10-27"
"GENCC_000105-HGNC_21485-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:21485"	"TBC1D32"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:21485"	"TBC1D32"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-05-20 00:00:00"	""	""	"24285566, 31130284, 32060556, 32573025, 20159594, 27002738"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100350"	"2022-10-27"
"GENCC_000105-HGNC_11597-MONDO_0032607-HP_0000006-GENCC_100004"	"HGNC:11597"	"TBX2"	"MONDO:0032607"	"vertebral anomalies and variable endocrine and T-cell dysfunction"	"MONDO:0032607"	"vertebral anomalies and variable endocrine and T-cell dysfunction"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11597"	"TBX2"	"MONDO:0032607"	"vertebral anomalies and variable endocrine and T-cell dysfunction"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-06-23 00:00:00"	""	""	"29726930, 28579578, 24130849"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100351"	"2022-10-27"
"GENCC_000105-HGNC_28313-MONDO_0032922-HP_0032113 -GENCC_100003"	"HGNC:28313"	"TET3"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:28313"	"TET3"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-08-23 00:00:00"	""	""	"31928709, 30167849, 34719681, 28555658, 24757058"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100352"	"2022-10-27"
"GENCC_000105-HGNC_11769-MONDO_0014262-HP_0000006-GENCC_100002"	"HGNC:11769"	"TGFB3"	"MONDO:0014262"	"Rienhoff syndrome"	"MONDO:0014262"	"Rienhoff syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11769"	"TGFB3"	"MONDO:0014262"	"Rienhoff syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-08-31 00:00:00"	""	""	"23824657, 24798638, 25835445, 26184463, 11157754, 7493021, 10793168, 1955457"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100353"	"2022-10-27"
"GENCC_000105-HGNC_16255-MONDO_0013485-HP_0000006-GENCC_100004"	"HGNC:16255"	"TGM6"	"MONDO:0013485"	"spinocerebellar ataxia type 35"	"MONDO:0013485"	"spinocerebellar ataxia type 35"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16255"	"TGM6"	"MONDO:0013485"	"spinocerebellar ataxia type 35"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-02-12 00:00:00"	""	""	"21106500, 25253745, 28934387, 33160304, 23836538, 22554020, 32426513, 30670339"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100354"	"2022-10-27"
"GENCC_000105-HGNC_11990-MONDO_0012243-HP_0000006-GENCC_100003"	"HGNC:11990"	"TOP2B"	"MONDO:0012243"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"MONDO:0012243"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11990"	"TOP2B"	"MONDO:0012243"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-10-21 00:00:00"	""	""	"31409799, 32128574, 33459963"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100355"	"2022-10-27"
"GENCC_000105-HGNC_20456-MONDO_0032572-HP_0000006-GENCC_100001"	"HGNC:20456"	"TRAF7"	"MONDO:0032572"	"cardiac, facial, and digital anomalies with developmental delay"	"MONDO:0032572"	"cardiac, facial, and digital anomalies with developmental delay"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:20456"	"TRAF7"	"MONDO:0032572"	"cardiac, facial, and digital anomalies with developmental delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-08-21 00:00:00"	""	""	"32376980, 29961569, 25961944, 22495311, 32459067"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100356"	"2022-10-27"
"GENCC_000105-HGNC_23066-MONDO_0060640-HP_0000007-GENCC_100003"	"HGNC:23066"	"TRAPPC6B"	"MONDO:0060640"	"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"MONDO:0060640"	"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:23066"	"TRAPPC6B"	"MONDO:0060640"	"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-06-12 00:00:00"	""	""	"28397838, 28626029, 31687267, 11239471"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100357"	"2022-10-27"
"GENCC_000105-HGNC_18083-MONDO_0018240-HP_0000006-GENCC_100001"	"HGNC:18083"	"TRPV4"	"MONDO:0018240"	"TRPV4-related bone disorder"	"MONDO:0018240"	"TRPV4-related bone disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18083"	"TRPV4"	"MONDO:0018240"	"TRPV4-related bone disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-04-24 00:00:00"	""	""	"18587396, 19232556, 21964829, 21964574, 21964574, 24644033"	"https://clinicalgenome.org/site/assets/files/2165/gene_curation_sop_version_6_aug_2018_final.pdf"	"100358"	"2022-10-27"
"GENCC_000105-HGNC_12347-MONDO_0032760-HP_0000006-GENCC_100001"	"HGNC:12347"	"TRRAP"	"MONDO:0032760"	"developmental delay with or without dysmorphic facies and autism"	"MONDO:0032760"	"developmental delay with or without dysmorphic facies and autism"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12347"	"TRRAP"	"MONDO:0032760"	"developmental delay with or without dysmorphic facies and autism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-07-22 00:00:00"	""	""	"23042115, 30424743, 30827496, 24792116"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100359"	"2022-10-27"
"GENCC_000105-HGNC_12412-MONDO_0014337-HP_0000006-GENCC_100001"	"HGNC:12412"	"TUBB2A"	"MONDO:0014337"	"complex cortical dysplasia with other brain malformations 5"	"MONDO:0014337"	"complex cortical dysplasia with other brain malformations 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12412"	"TUBB2A"	"MONDO:0014337"	"complex cortical dysplasia with other brain malformations 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-10-06 00:00:00"	""	""	"24702957, 25326637, 28840640, 27770045, 29547997, 30016746, 20191564, 24194600"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100361"	"2022-10-27"
"GENCC_000105-HGNC_20772-MONDO_0013541-HP_0000006-GENCC_100002"	"HGNC:20772"	"TUBB3"	"MONDO:0013541"	"complex cortical dysplasia with other brain malformations 1"	"MONDO:0013541"	"complex cortical dysplasia with other brain malformations 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:20772"	"TUBB3"	"MONDO:0013541"	"complex cortical dysplasia with other brain malformations 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-01-12 00:00:00"	""	""	"20829227, 26639658, 29187032, 24179174"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100362"	"2022-10-27"
"GENCC_000105-HGNC_12461-MONDO_0032737-HP_0000006-GENCC_100002"	"HGNC:12461"	"UBAP1"	"MONDO:0032737"	"spastic paraplegia 80, autosomal dominant"	"MONDO:0032737"	"spastic paraplegia 80, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12461"	"UBAP1"	"MONDO:0032737"	"spastic paraplegia 80, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-06-29 00:00:00"	""	""	"30929741, 31203368"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100363"	"2022-10-27"
"GENCC_000105-HGNC_12511-MONDO_0044701-HP_0000006-GENCC_100001"	"HGNC:12511"	"UBTF"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12511"	"UBTF"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-11-10 00:00:00"	""	""	"28777933, 29300972"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100364"	"2022-10-27"
"GENCC_000105-HGNC_23150-MONDO_0002320-HP_0000005 -GENCC_100004"	"HGNC:23150"	"UNC13A"	"MONDO:0002320"	"congenital nervous system disorder"	"MONDO:0002320"	"congenital nervous system disorder"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000105"	"Illumina"	"HGNC:23150"	"UNC13A"	"MONDO:0002320"	"congenital nervous system disorder"	"HP:0000005 "	"Unknown inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-10-15 00:00:00"	""	""	"28192369, 27648472, 30690332, 17167095, 10440375, 11792326"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100365"	"2022-10-27"
"GENCC_000105-HGNC_12616-MONDO_0018828-HP_0000007-GENCC_100001"	"HGNC:12616"	"USP18"	"MONDO:0018828"	"pseudo-TORCH syndrome 2"	"MONDO:0018828"	"pseudo-TORCH syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:12616"	"USP18"	"MONDO:0018828"	"pseudo-TORCH syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-08-26 00:00:00"	""	""	"27325888, 31940699, 35258551, 12208842, 25896511"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100366"	"2022-10-27"
"GENCC_000105-HGNC_12651-OMIM_617802-HP_0000007-GENCC_100001"	"HGNC:12651"	"VARS1"	"MONDO:0060621"	"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"	"OMIM:617802"	"Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:12651"	"VARS1"	"OMIM:617802"	"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-02-23 00:00:00"	""	""	"26539891, 29137650, 30755616, 30755602, 29691655, 30275004, 25035493"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100367"	"2022-10-27"
"GENCC_000105-HGNC_15972-MONDO_0019046-HP_0000005 -GENCC_100008"	"HGNC:15972"	"VPS18"	"MONDO:0019046"	"leukodystrophy"	"MONDO:0019046"	"leukodystrophy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000105"	"Illumina"	"HGNC:15972"	"VPS18"	"MONDO:0019046"	"leukodystrophy"	"HP:0000005 "	"Unknown inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2020-03-03 00:00:00"	""	""	"22854957, 22699122, 27120463"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100368"	"2022-10-27"
"GENCC_000105-HGNC_13831-MONDO_0013926-HP_0000006-GENCC_100004"	"HGNC:13831"	"WDR11"	"MONDO:0013926"	"hypogonadotropic hypogonadism 14 with or without anosmia"	"MONDO:0013926"	"hypogonadotropic hypogonadism 14 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:13831"	"WDR11"	"MONDO:0013926"	"hypogonadotropic hypogonadism with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-04-20 00:00:00"	""	""	"20887964, 25064402, 28209183, 32982993, 30711679, 29263200"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100369"	"2022-10-27"
"GENCC_000105-HGNC_21208-MONDO_0054636-HP_0000006-GENCC_100002"	"HGNC:21208"	"WDR26"	"MONDO:0054636"	"Skraban-Deardorff syndrome"	"MONDO:0054636"	"Skraban-Deardorff syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:21208"	"WDR26"	"MONDO:0054636"	"Skraban-Deardorff syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-03-12 00:00:00"	""	""	"28686853, 15378603"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100370"	"2022-10-27"
"GENCC_000105-HGNC_28912-MONDO_0010476-HP_0001417-GENCC_100001"	"HGNC:28912"	"WDR45"	"MONDO:0010476"	"neurodegeneration with brain iron accumulation 5"	"MONDO:0010476"	"neurodegeneration with brain iron accumulation 5"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:28912"	"WDR45"	"MONDO:0010476"	"neurodegeneration with brain iron accumulation 5"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-10-02 00:00:00"	""	""	"23176820, 29981852, 30169597, 26000824"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100371"	"2022-10-27"
"GENCC_000105-HGNC_13829-MONDO_0100358-HP_0032113 -GENCC_100001"	"HGNC:13829"	"WNT10A"	"MONDO:0100358"	"ectodermal dysplasia WNT10A related"	"MONDO:0100358"	"ectodermal dysplasia WNT10A related"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:13829"	"WNT10A"	"MONDO:0100358"	"ectodermal Dysplasia WNT10A related"	"HP:0032113 "	"Semidominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-08-20 00:00:00"	""	""	"19559398, 26964878, 20979233, 23401279, 22581971, 29178643, 26964878, 31468502, 31796081, 25629078"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100372"	"2022-10-27"
"GENCC_000105-HGNC_12827-MONDO_0014628-HP_0000006-GENCC_100003"	"HGNC:12827"	"XPR1"	"MONDO:0014628"	"basal ganglia calcification, idiopathic, 6"	"MONDO:0014628"	"basal ganglia calcification, idiopathic, 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12827"	"XPR1"	"MONDO:0014628"	"basal ganglia calcification, idiopathic, 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-03-19 00:00:00"	""	""	"25938945, 0, 27230854, 29955172, 30609140, 31498925, 31043717, 33433330"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100373"	"2022-10-27"
"GENCC_000105-HGNC_12852-MONDO_0033365-HP_0000006-GENCC_100001"	"HGNC:12852"	"YWHAG"	"MONDO:0033365"	"developmental and epileptic encephalopathy, 56"	"MONDO:0033365"	"developmental and epileptic encephalopathy, 56"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12852"	"YWHAG"	"MONDO:0033365"	"developmental and epileptic encephalopathy 56"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-30 00:00:00"	""	""	"28777935, 33393734, 31926053, 33767733, 20146335, 26297819, 27288018"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100374"	"2022-10-27"
"GENCC_000105-HGNC_30939-OMIM_178300-HP_0000006-GENCC_100008"	"HGNC:30939"	"ZFHX4"	"MONDO:0008340"	"ptosis, hereditary congenital, 1"	"OMIM:178300"	"?Ptosis, congenital"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30939"	"ZFHX4"	"OMIM:178300"	"ptosis, hereditary congenital 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2020-03-19 00:00:00"	""	""	"11935336, 17987257, 21802062"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100375"	"2022-10-27"
"GENCC_000105-HGNC_13054-MONDO_0000508-HP_0001417-GENCC_100008"	"HGNC:13054"	"ZMYM3"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:13054"	"ZMYM3"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2020-10-23 00:00:00"	""	""	"24721225, 10662551"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100376"	"2022-10-27"
"GENCC_000105-HGNC_16933-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:16933"	"FEM1C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16933"	"FEM1C"	"MONDO:0100038"	"complex neurodevelopmental disorder	"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2022-10-11 00:00:00"	""	""	"34566579, 28135719"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100377"	"2022-10-27"
"GENCC_000105-HGNC_13339-OMIM_300923-HP_0001417-GENCC_100003"	"HGNC:13339"	"KIF4A"	"MONDO:0010488"	"intellectual disability, X-linked 100"	"OMIM:300923"	"Intellectual developmental disorder, X-linked 100"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:13339"	"KIF4A"	"OMIM:300923"	"intellectual developmental disorder, X-linked 100 "	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-10-11 00:00:00"	""	""	"7929562, 10747093, 24812067, 30479371, 30679815, 31616463, 34346154"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100378"	"2022-10-27"
"GENCC_000105-HGNC_26521-MONDO_0005321-HP_0000006-GENCC_100004"	"HGNC:26521"	"LOXHD1"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:26521"	"LOXHD1"	"MONDO:0005321"	"Fuchs' endothelial dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2022-10-12 00:00:00"	""	""	"22341973, 29799290"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100379"	"2022-10-27"
"GENCC_000105-HGNC_20-OMIM_616339-HP_0000007-GENCC_100001"	"HGNC:20"	"AARS1"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"OMIM:616339"	"Developmental and epileptic encephalopathy 29"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:20"	"AARS1"	"OMIM:616339"	"developmental and epileptic encephalopathy 29"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-10-26 00:00:00"	""	""	"28493438, 25817015, 34446925"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100380"	"2022-10-27"
"GENCC_000105-HGNC_26784-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:26784"	"MTRFR"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:26784"	"C12ORF65"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-04-01 00:00:00"	""	""	"20598281, 24284555, 27858754, 25995486, 26380172, 27977873, 18853439, 20598281, 22821833, 27858754, 26380172, "	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100381"	"2022-10-27"
"GENCC_000105-HGNC_26239-MONDO_0020119-HP_0001417-GENCC_100004"	"HGNC:26239"	"STEEP1"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:26239"	"STEEP1"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-12-15 00:00:00"	""	""	"29374277, 31822863"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"1909202315"	"2023-09-14"
"GENCC_000105-HGNC_11254-MONDO_0032942-HP_0000006-GENCC_100003"	"HGNC:11254"	"SPOP"	"MONDO:0032942"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"MONDO:0032942"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11254"	"SPOP"	"MONDO:0032942"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2020-10-14 00:00:00"	""	""	"32109420, 27930311"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100383"	"2022-10-27"
"GENCC_000105-HGNC_11355 -MONDO_0026722-HP_0001417-GENCC_100002"	"HGNC:11355"	"STAG2"	"MONDO:0026722"	"Mullegama-Klein-Martinez syndrome"	"MONDO:0026722"	"Mullegama-Klein-Martinez syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:11355 "	"STAG2"	"MONDO:0026722"	"Mullegama-Klein-Martinez syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-12-15 00:00:00"	""	""	"29263825, 30158690, 28296084, "	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100384"	"2022-10-27"
"GENCC_000105-HGNC_15979-MONDO_0011535-HP_0000006-GENCC_100003"	"HGNC:15979"	"TP63"	"MONDO:0011535"	"split hand-foot malformation 4"	"MONDO:0011535"	"split hand-foot malformation 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:15979"	"TP63"	"MONDO:0011535"	"split hand-foot malformation 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-07-20 00:00:00"	""	""	"24973351, 22574117, 22065540, 11462173, 15736220, 27351625, 18634775,  31296872"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100385"	"2022-10-27"
"GENCC_000105-HGNC_16792-MONDO_0007179-HP_0000006-GENCC_100008"	"HGNC:16792"	"SMG7"	"MONDO:0007179"	"autoimmune disease"	"MONDO:0007179"	"autoimmune disease"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16792"	"SMG7"	"MONDO:0007179"	"autoimmune disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2020-10-06 00:00:00"	""	""	""	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100386"	"2022-12-02"
"GENCC_000105-HGNC_12303-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:12303"	"TRIO"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12303"	"TRIO"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-09-10 00:00:00"	""	""	""	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100387"	"2022-12-02"
"GENCC_000105-HGNC_10591-MONDO_0100121-HP_0000007-GENCC_100001"	"HGNC:10591"	"SCN4A"	"MONDO:0100121"	"SCN4A-related myopathy, autosomal recessive"	"MONDO:0100121"	"SCN4A-related myopathy, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:10591"	"SCN4A"	"MONDO:0100121"	"
SCN4A-related myopathy, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-06-30 00:00:00"	""	""	""	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100388"	"2022-12-02"
"GENCC_000105-HGNC_30677-MONDO_0010610-HP_0001417-GENCC_100004"	"HGNC:30677"	"GPKOW"	"MONDO:0010610"	"holoprosencephaly-hypokinesia-congenital contractures syndrome"	"MONDO:0010610"	"holoprosencephaly-hypokinesia-congenital contractures syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:30677"	"GPKOW"	"MONDO:0010610"	"holoprosencephaly-hypokinesia-congenital contractures syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-02-22 00:00:00"	""	""	""	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100389"	"2022-12-02"
"GENCC_000105-HGNC_25287-MONDO_0100038-HP_0000006-GENCC_100008"	"HGNC:25287"	"LMBRD2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:25287"	"LMBRD2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2020-02-21 00:00:00"	""	""	""	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100390"	"2022-12-02"
"GENCC_000105-HGNC_17575-MONDO_0100038-HP_0000006-GENCC_100008"	"HGNC:17575"	"SPEN"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:17575"	"SPEN"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2020-08-24 00:00:00"	""	""	""	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100391"	"2022-12-02"
"GENCC_000105-HGNC_882-OMIM_210600-HP_0000007-GENCC_100001"	"HGNC:882"	"ATR"	"MONDO:0008869"	"Seckel syndrome 1"	"OMIM:210600"	"Seckel syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:882"	"ATR"	"OMIM:210600"	"Seckel syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-14 00:00:00"	""	""	"23144622, 12640452, 30199583, 19620979"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100185"	"2022-12-15"
"GENCC_000105-HGNC_29046-OMIM_619777-HP_0000006-GENCC_100003"	"HGNC:29046"	"FBXO28"	"MONDO:0030695"	"developmental and epileptic encephalopathy 100"	"OMIM:619777"	"Developmental and epileptic encephalopathy 100"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:29046"	"FBXO28"	"OMIM:619777"	"developmental and epileptic encephalopathy 100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-01-25 00:00:00"	""	""	"30160831, 33280099"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100235"	"2022-12-15"
"GENCC_000105-HGNC_6284-MONDO_0012276-HP_0000006-GENCC_100002"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-03-12 00:00:00"	""	""	"15937479, 26195193, 29330545, 31152168, 15194823, 29145442, 24845235"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100260"	"2022-12-15"
"GENCC_000105-HGNC_6827-OMIM_619775-HP_0000007-GENCC_100003"	"HGNC:6827"	"MAN2C1"	"MONDO:0030770"	"congenital disorder of deglycosylation 2"	"OMIM:619775"	"Congenital disorder of deglycosylation 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:6827"	"MAN2C1"	"OMIM:619775"	"congenital disorder of deglycosylation 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-06-02 00:00:00"	""	""	"35045343, 24550399"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"100272"	"2022-12-15"
"GENCC_000105-HGNC_11397-OMIM_616171-HP_0000007-GENCC_100001"	"HGNC:11397"	"PLK4"	"MONDO:0014516"	"microcephaly and chorioretinopathy 2"	"OMIM:616171"	"Microcephaly and chorioretinopathy, autosomal recessive, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:11397"	"PLK4"	"OMIM:616171"	"microcephaly and chorioretinopathy, autosomal recessive, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-08-13 00:00:00"	""	""	"25344692, 25320347, 27650967, 28832566"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"100294"	"2022-12-15"
"GENCC_000105-HGNC_16257-OMIM_613112-HP_0000006-GENCC_100003"	"HGNC:16257"	"TUBB1"	"MONDO:0800047"	"macrothrombocytopenia, isolated, 1, autosomal dominant"	"OMIM:613112"	"Macrothrombocytopenia, isolated, 1, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16257"	"TUBB1"	"OMIM:613112"	"macrothrombocytopenia, isolated, 1, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2021-10-28 00:00:00"	""	""	"18849486, 27905099, 27479822, 28983057, 30103613, 31565851, 30854628, 11369202, 30336771, 33217855, 32757236, 33718801, 33400601"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"100360"	"2022-12-15"
"GENCC_000101-HGNC_20-OMIM_619691-HP_0000007-GENCC_100004"	"HGNC:20"	"AARS1"	"MONDO:0030517"	"trichothiodystrophy 8, nonphotosensitive"	"OMIM:619691"	"Trichothiodystrophy 8, nonphotosensitive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20"	"AARS"	"OMIM:619691"	"Trichothiodystrophy 8, nonphotosensitive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13721"	"2023-08-19"
"GENCC_000101-HGNC_29-OMIM_604091-HP_0000006-GENCC_100001"	"HGNC:29"	"ABCA1"	"MONDO:0011393"	"hypoalphalipoproteinemia, primary, 1"	"OMIM:604091"	"HDL deficiency, familial, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29"	"ABCA1"	"OMIM:604091"	"HDL deficiency, familial, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-09-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"67"	"2023-08-19"
"GENCC_000101-HGNC_60-OMIM_619719-HP_0000007-GENCC_100003"	"HGNC:60"	"ABCC9"	"MONDO:0859224"	"intellectual disability and myopathy syndrome"	"OMIM:619719"	"Intellectual disability and myopathy syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:60"	"ABCC9"	"OMIM:619719"	"Intellectual disability and myopathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-13 12:08:07"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42245"	"2025-01-17"
"GENCC_000101-HGNC_13921-OMIM_619735-HP_0000007-GENCC_100003"	"HGNC:13921"	"ABHD16A"	"MONDO:0030673"	"spastic paraplegia 86, autosomal recessive"	"OMIM:619735"	"Spastic paraplegia 86, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13921"	"ABHD16A"	"OMIM:619735"	"Spastic paraplegia 86, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-01-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13879"	"2023-08-19"
"GENCC_000101-HGNC_319-OMIM_608361-HP_0000006-GENCC_100004"	"HGNC:319"	"ACAN"	"MONDO:0012019"	"spondyloepiphyseal dysplasia, Kimberley type"	"OMIM:608361"	"?Spondyloepiphyseal dysplasia, Kimberley type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:319"	"ACAN"	"OMIM:608361"	"Spondyloepiphyseal dysplasia, Kimberley type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92394"	"2023-08-19"
"GENCC_000101-HGNC_319-OMIM_612813-HP_0000007-GENCC_100004"	"HGNC:319"	"ACAN"	"MONDO:0013014"	"spondyloepimetaphyseal dysplasia, aggrecan type"	"OMIM:612813"	"Spondyloepimetaphyseal dysplasia, aggrecan type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:319"	"ACAN"	"OMIM:612813"	"Spondyloepimetaphyseal dysplasia, aggrecan type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92395"	"2023-08-19"
"GENCC_000101-HGNC_319-OMIM_165800-HP_0000006-GENCC_100001"	"HGNC:319"	"ACAN"	"MONDO:0100462"	"short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans"	"OMIM:165800"	"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:319"	"ACAN"	"OMIM:165800"	"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-09-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92393"	"2023-08-19"
"GENCC_000101-HGNC_23338-OMIM_618863-HP_0000007-GENCC_100003"	"HGNC:23338"	"ACBD5"	"MONDO:0030026"	"retinal dystrophy with leukodystrophy"	"OMIM:618863"	"Retinal dystrophy with leukodystrophy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23338"	"ACBD5"	"OMIM:618863"	"Retinal dystrophy with leukodystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13251"	"2023-08-19"
"GENCC_000101-HGNC_16066-OMIM_617762-HP_0000007-GENCC_100004"	"HGNC:16066"	"ACER3"	"MONDO:0044718"	"alkaline ceramidase 3 deficiency"	"OMIM:617762"	"?Leukodystrophy, progressive, early childhood-onset"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16066"	"ACER3"	"OMIM:617762"	"Leukodystrophy, progressive, early childhood-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"73992"	"2023-08-19"
"GENCC_000101-HGNC_118-OMIM_616289-HP_0000006-GENCC_100003"	"HGNC:118"	"ACO2"	"MONDO:0014571"	"optic atrophy 9"	"OMIM:616289"	"Optic atrophy 9"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:118"	"ACO2"	"OMIM:616289"	"Optic atrophy 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13328"	"2023-08-19"
"GENCC_000101-HGNC_160-OMIM_618470-HP_0000006-GENCC_100003"	"HGNC:160"	"ACTL6B"	"MONDO:0032770"	"intellectual developmental disorder with severe speech and ambulation defects"	"OMIM:618470"	"Intellectual developmental disorder with severe speech and ambulation defects"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:160"	"ACTL6B"	"OMIM:618470"	"Intellectual developmental disorder with severe speech and ambulation defects"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-07-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13424"	"2023-08-19"
"GENCC_000101-HGNC_20973-OMIM_620065-HP_0000006-GENCC_100003"	"HGNC:20973"	"ADGRL1"	"MONDO:0859292"	"developmental delay, behavioral abnormalities, and neuropsychiatric disorders"	"OMIM:620065"	"Developmental delay, behavioral abnormalities, and neuropsychiatric disorders"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20973"	"ADGRL1"	"OMIM:620065"	"Developmental delay, behavioral abnormalities, and neuropsychiatric disorders"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-11-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13506"	"2023-08-19"
"GENCC_000101-HGNC_315-OMIM_618977-HP_0000006-GENCC_100002"	"HGNC:315"	"AFG3L2"	"MONDO:0033549"	"optic atrophy 12"	"OMIM:618977"	"Optic atrophy 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:315"	"AFG3L2"	"OMIM:618977"	"Optic atrophy 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-05-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42261"	"2023-08-19"
"GENCC_000101-HGNC_3262-OMIM_620292-HP_0000006-GENCC_100002"	"HGNC:3262"	"AGO1"	"MONDO:0859531"	"neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"	"OMIM:620292"	"Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3262"	"AGO1"	"OMIM:620292"	"Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-02-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"70352"	"2023-08-19"
"GENCC_000101-HGNC_328-OMIM_620233-HP_0000007-GENCC_100004"	"HGNC:328"	"AGR2"	"MONDO:0859370"	"respiratory infections, recurrent, and failure to thrive with or without diarrhea"	"OMIM:620233"	"Respiratory infections, recurrent, and failure to thrive with or without diarrhea"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:328"	"AGR2"	"OMIM:620233"	"Respiratory infections, recurrent, and failure to thrive with or without diarrhea"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13076"	"2023-08-19"
"GENCC_000101-HGNC_360-OMIM_240300-HP_0000006-GENCC_100003"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:360"	"AIRE"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-11-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"75673"	"2023-08-19"
"GENCC_000101-HGNC_399-OMIM_615999-HP_0000006-GENCC_100004"	"HGNC:399"	"ALB"	"MONDO:0014448"	"hyperthyroxinemia, familial dysalbuminemic"	"OMIM:615999"	"[Dysalbuminemic hyperthyroxinemia]"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:399"	"ALB"	"OMIM:615999"	"Dysalbuminemic hypertriiodothyroninemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42279"	"2023-08-19"
"GENCC_000101-HGNC_399-OMIM_616000-HP_0000007-GENCC_100001"	"HGNC:399"	"ALB"	"MONDO:0014449"	"congenital analbuminemia"	"OMIM:616000"	"Analbuminemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:399"	"ALB"	"OMIM:616000"	"Analbuminemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42270"	"2023-08-19"
"GENCC_000101-HGNC_20266-OMIM_620056-HP_0000006-GENCC_100004"	"HGNC:20266"	"ALG5"	"MONDO:0031062"	"polycystic kidney disease 7"	"OMIM:620056"	"Polycystic kidney disease 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20266"	"ALG5"	"OMIM:620056"	"Polycystic kidney disease 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13500"	"2023-08-19"
"GENCC_000101-HGNC_17574-OMIM_618052-HP_0032113-GENCC_100003"	"HGNC:17574"	"ALPK3"	"MONDO:0054838"	"cardiomyopathy, familial hypertrophic 27"	"OMIM:618052"	"Cardiomyopathy, familial hypertrophic 27"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17574"	"ALPK3"	"OMIM:618052"	"Cardiomyopathy, familial hypertrophic 27"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-01-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13973"	"2023-08-19"
"GENCC_000101-HGNC_29186-OMIM_188000-HP_0000006-GENCC_100002"	"HGNC:29186"	"ANKRD26"	"MONDO:0008555"	"thrombocytopenia 2"	"OMIM:188000"	"Thrombocytopenia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29186"	"ANKRD26"	"OMIM:188000"	"Thrombocytopenia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-10-11 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61396"	"2024-01-02"
"GENCC_000101-HGNC_14082-OMIM_616032-HP_0000006-GENCC_100004"	"HGNC:14082"	"ANLN"	"MONDO:0014462"	"focal segmental glomerulosclerosis 8"	"OMIM:616032"	"Focal segmental glomerulosclerosis 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14082"	"ANLN"	"OMIM:616032"	"Focal segmental glomerulosclerosis 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13552"	"2023-08-19"
"GENCC_000101-HGNC_17288-OMIM_144650-HP_0032113-GENCC_100002"	"HGNC:17288"	"APOA5"	"MONDO:0007762"	"hyperlipoproteinemia type V"	"OMIM:144650"	"Hyperchylomicronemia, late-onset"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17288"	"APOA5"	"OMIM:144650"	"Hyperchylomicronemia, late-onset"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-12-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13974"	"2023-08-19"
"GENCC_000101-HGNC_652-OMIM_618185-HP_0000006-GENCC_100003"	"HGNC:652"	"ARF1"	"MONDO:0032588"	"periventricular nodular heterotopia 8"	"OMIM:618185"	"Periventricular nodular heterotopia 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:652"	"ARF1"	"OMIM:618185"	"Periventricular nodular heterotopia 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17401"	"2023-08-19"
"GENCC_000101-HGNC_654-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:654"	"ARF3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:654"	"ARF3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-06-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15373"	"2023-08-19"
"GENCC_000101-HGNC_15772-OMIM_619964-HP_0000006-GENCC_100002"	"HGNC:15772"	"ARFGEF1"	"MONDO:0859263"	"developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"OMIM:619964"	"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15772"	"ARFGEF1"	"OMIM:619964"	"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-18 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13437"	"2025-01-17"
"GENCC_000101-HGNC_707-OMIM_620141-HP_0000006-GENCC_100003"	"HGNC:707"	"ARPC4"	"MONDO:0859324"	"developmental delay, language impairment, and ocular abnormalities"	"OMIM:620141"	"Developmental delay, language impairment, and ocular abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:707"	"ARPC4"	"OMIM:620141"	"Developmental delay, language impairment, and ocular abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-02-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13706"	"2023-08-19"
"GENCC_000101-HGNC_25567-OMIM_617183-HP_0000006-GENCC_100003"	"HGNC:25567"	"ATAD3A"	"MONDO:0014958"	"Harel-Yoon syndrome"	"OMIM:617183"	"Harel-Yoon syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25567"	"ATAD3A"	"OMIM:617183"	"Harel-Yoon syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-01-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17058"	"2023-08-19"
"GENCC_000101-HGNC_25567-OMIM_618810-HP_0000007-GENCC_100003"	"HGNC:25567"	"ATAD3A"	"MONDO:0032931"	"pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"OMIM:618810"	"Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25567"	"ATAD3A"	"OMIM:618810"	"Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-01-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15838"	"2023-08-19"
"GENCC_000101-HGNC_779-OMIM_601238-HP_0000007-GENCC_100003"	"HGNC:779"	"ATCAY"	"MONDO:0011025"	"Cayman type cerebellar ataxia"	"OMIM:601238"	"Ataxia, cerebellar, Cayman type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:779"	"ATCAY"	"OMIM:601238"	"Ataxia, cerebellar, Cayman type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-16 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61229"	"2024-01-02"
"GENCC_000101-HGNC_797-OMIM_620284-HP_0000006-GENCC_100004"	"HGNC:797"	"ATOH1"	"MONDO:0859528"	"hearing loss, autosomal dominant 89"	"OMIM:620284"	"?Deafness, autosomal dominant 89"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:797"	"ATOH1"	"OMIM:620284"	"Deafness, autosomal dominant 89"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13352"	"2023-08-19"
"GENCC_000101-HGNC_13552-OMIM_619851-HP_0000006-GENCC_100004"	"HGNC:13552"	"ATP11A"	"MONDO:0859242"	"leukodystrophy, hypomyelinating, 24"	"OMIM:619851"	"?Leukodystrophy, hypomyelinating, 24"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13552"	"ATP11A"	"OMIM:619851"	"Leukodystrophy, hypomyelinating, 24"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13396"	"2023-08-19"
"GENCC_000101-HGNC_13552-OMIM_619810-HP_0000006-GENCC_100003"	"HGNC:13552"	"ATP11A"	"MONDO:0030724"	"hearing loss, autosomal dominant 84"	"OMIM:619810"	"Deafness, autosomal dominant 84"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13552"	"ATP11A"	"OMIM:619810"	"Deafness, autosomal dominant 84"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-02-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13399"	"2023-08-19"
"GENCC_000101-HGNC_800-OMIM_619602-HP_0000007-GENCC_100003"	"HGNC:800"	"ATP1A2"	"MONDO:0859204"	"fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"	"OMIM:619602"	"Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:800"	"ATP1A2"	"OMIM:619602"	"Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-03-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11448"	"2023-08-19"
"GENCC_000101-HGNC_801-OMIM_619606-HP_0000006-GENCC_100002"	"HGNC:801"	"ATP1A3"	"MONDO:0030473"	"developmental and epileptic encephalopathy 99"	"OMIM:619606"	"Developmental and epileptic encephalopathy 99"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:801"	"ATP1A3"	"OMIM:619606"	"Developmental and epileptic encephalopathy 99"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-12-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13544"	"2023-08-19"
"GENCC_000101-HGNC_814-OMIM_619910-HP_0000006-GENCC_100003"	"HGNC:814"	"ATP2B1"	"MONDO:0030891"	"intellectual developmental disorder, autosomal dominant 66"	"OMIM:619910"	"Intellectual developmental disorder, autosomal dominant 66"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:814"	"ATP2B1"	"OMIM:619910"	"Intellectual developmental disorder, autosomal dominant 66"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13132"	"2023-08-19"
"GENCC_000101-HGNC_830-OMIM_620085-HP_0000006-GENCC_100004"	"HGNC:830"	"ATP5F1B"	"MONDO:0859302"	"hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2"	"OMIM:620085"	"?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:830"	"ATP5B"	"OMIM:620085"	"Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13350"	"2023-08-19"
"GENCC_000101-HGNC_838-OMIM_614053-HP_0000007-GENCC_100004"	"HGNC:838"	"ATP5F1E"	"MONDO:0013547"	"mitochondrial complex V (ATP synthase) deficiency nuclear type 3"	"OMIM:614053"	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:838"	"ATP5E"	"OMIM:614053"	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92413"	"2023-08-19"
"GENCC_000101-HGNC_843-OMIM_619681-HP_0000006-GENCC_100003"	"HGNC:843"	"ATP5MC3"	"MONDO:0859215"	"dystonia, early-onset, and/or spastic paraplegia"	"OMIM:619681"	"Dystonia, early-onset, and/or spastic paraplegia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:843"	"ATP5G3"	"OMIM:619681"	"Dystonia, early-onset, and/or spastic paraplegia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-01-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13819"	"2023-08-19"
"GENCC_000101-HGNC_865-OMIM_619970-HP_0000006-GENCC_100002"	"HGNC:865"	"ATP6V0A1"	"MONDO:0031021"	"developmental and epileptic encephalopathy 104"	"OMIM:619970"	"Developmental and epileptic encephalopathy 104"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:865"	"ATP6V0A1"	"OMIM:619970"	"Developmental and epileptic encephalopathy 104"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-07-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11723"	"2023-08-19"
"GENCC_000101-HGNC_865-OMIM_619971-HP_0000007-GENCC_100003"	"HGNC:865"	"ATP6V0A1"	"MONDO:0859265"	"neurodevelopmental disorder with epilepsy and brain atrophy"	"OMIM:619971"	"Neurodevelopmental disorder with epilepsy and brain atrophy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:865"	"ATP6V0A1"	"OMIM:619971"	"Neurodevelopmental disorder with epilepsy and brain atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-07-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13485"	"2023-08-19"
"GENCC_000101-HGNC_13540-OMIM_620242-HP_0000007-GENCC_100002"	"HGNC:13540"	"ATP9A"	"MONDO:0859377"	"neurodevelopmental disorder with poor growth and behavioral abnormalities"	"OMIM:620242"	"Neurodevelopmental disorder with poor growth and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13540"	"ATP9A"	"OMIM:620242"	"Neurodevelopmental disorder with poor growth and behavioral abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-03-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15317"	"2023-08-19"
"GENCC_000101-HGNC_939-OMIM_612954-HP_0000006-GENCC_100002"	"HGNC:939"	"BAG3"	"MONDO:0013061"	"myofibrillar myopathy 6"	"OMIM:612954"	"Myopathy, myofibrillar, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:939"	"BAG3"	"OMIM:612954"	"Myopathy, myofibrillar, 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-08-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78434"	"2023-08-19"
"GENCC_000101-HGNC_950-OMIM_619762-HP_0000006-GENCC_100002"	"HGNC:950"	"BAP1"	"MONDO:0859230"	"Kury-Isidor syndrome"	"OMIM:619762"	"Kury-Isidor syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:950"	"BAP1"	"OMIM:619762"	"Kury-Isidor syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-02-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13389"	"2023-08-19"
"GENCC_000101-HGNC_28093-OMIM_615995-HP_0000007-GENCC_100004"	"HGNC:28093"	"BBIP1"	"MONDO:0014446"	"Bardet-Biedl syndrome 18"	"OMIM:615995"	"Bardet-Biedl syndrome 18"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28093"	"BBIP1"	"OMIM:615995"	"Bardet-Biedl syndrome 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78431"	"2023-08-19"
"GENCC_000101-HGNC_1058-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:1058"	"BLM"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1058"	"BLM"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2023-05-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"3799"	"2023-08-19"
"GENCC_000101-HGNC_18561-OMIM_619172-HP_0000007-GENCC_100003"	"HGNC:18561"	"BLOC1S5"	"MONDO:0030903"	"Hermansky-Pudlak syndrome 11"	"OMIM:619172"	"Hermansky-Pudlak syndrome 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18561"	"BLOC1S5"	"OMIM:619172"	"Hermansky-Pudlak syndrome 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-03-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13109"	"2023-08-19"
"GENCC_000101-HGNC_13862-OMIM_619009-HP_0000007-GENCC_100004"	"HGNC:13862"	"BTG4"	"MONDO:0033564"	"oocyte maturation defect 8"	"OMIM:619009"	"Oocyte/zygote/embryo maturation arrest 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13862"	"BTG4"	"OMIM:619009"	"Oocyte/zygote/embryo maturation arrest 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-18 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42288"	"2023-08-19"
"GENCC_000101-HGNC_1148-OMIM_620183-HP_0000007-GENCC_100004"	"HGNC:1148"	"BUB1"	"MONDO:0859342"	"microcephaly 30, primary, autosomal recessive"	"OMIM:620183"	"Microcephaly 30, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1148"	"BUB1"	"OMIM:620183"	"Microcephaly 30, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13181"	"2023-08-19"
"GENCC_000101-HGNC_1148-OMIM_114500-HP_0000006-GENCC_100004"	"HGNC:1148"	"BUB1"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1148"	"BUB1"	"OMIM:114500"	"Colorectal cancer with chromosomal instability, somatic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-08-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78071"	"2023-08-19"
"GENCC_000101-HGNC_26784-OMIM_613559-HP_0000007-GENCC_100003"	"HGNC:26784"	"MTRFR"	"MONDO:0013306"	"combined oxidative phosphorylation defect type 7"	"OMIM:613559"	"Combined oxidative phosphorylation deficiency 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26784"	"C12orf65"	"OMIM:613559"	"Combined oxidative phosphorylation deficiency 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-10-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"67346"	"2023-08-19"
"GENCC_000101-HGNC_31690-OMIM_619985-HP_0000007-GENCC_100004"	"HGNC:31690"	"C18orf32"	"MONDO:0859271"	"glycosylphosphatidylinositol biosynthesis defect 25"	"OMIM:619985"	"?Glycosylphosphatidylinositol biosynthesis defect 25"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31690"	"C18orf32"	"OMIM:619985"	"Glycosylphosphatidylinositol biosynthesis defect 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13793"	"2023-08-19"
"GENCC_000101-HGNC_15870-OMIM_616994-HP_0000007-GENCC_100004"	"HGNC:15870"	"RAB5IF"	"MONDO:0859567"	"craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2"	"OMIM:616994"	"?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15870"	"C20orf24"	"OMIM:616994"	"Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13438"	"2023-08-19"
"GENCC_000101-HGNC_26255-OMIM_620177-HP_0000007-GENCC_100004"	"HGNC:26255"	"C3orf52"	"MONDO:0859341"	"hypotrichosis 15"	"OMIM:620177"	"Hypotrichosis 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26255"	"C3orf52"	"OMIM:620177"	"Hypotrichosis 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13357"	"2023-08-19"
"GENCC_000101-HGNC_1371-OMIM_143860-HP_0000007-GENCC_100004"	"HGNC:1371"	"CA12"	"MONDO:0007747"	"isolated hyperchlorhidrosis"	"OMIM:143860"	"Hyperchlorhidrosis, isolated"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1371"	"CA12"	"OMIM:143860"	"Hyperchlorhidrosis, isolated"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"325"	"2023-08-19"
"GENCC_000101-HGNC_1390-OMIM_620029-HP_0000006-GENCC_100002"	"HGNC:1390"	"CACNA1C"	"MONDO:0859286"	"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures"	"OMIM:620029"	"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1390"	"CACNA1C"	"OMIM:620029"	"Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-02-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13704"	"2023-08-19"
"GENCC_000101-HGNC_1471-OMIM_620201-HP_0000007-GENCC_100004"	"HGNC:1471"	"CAMLG"	"MONDO:0859357"	"congenital disorder of glycosylation, type IIz"	"OMIM:620201"	"?Congenital disorder of glycosylation, type IIz"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1471"	"CAMLG"	"OMIM:620201"	"Congenital disorder of glycosylation, type IIz"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13319"	"2023-08-19"
"GENCC_000101-HGNC_1480-OMIM_618129-HP_0000006-GENCC_100003"	"HGNC:1480"	"CAPN3"	"MONDO:0029133"	"muscular dystrophy, limb-girdle, autosomal dominant 4"	"OMIM:618129"	"Muscular dystrophy, limb-girdle, autosomal dominant 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1480"	"CAPN3"	"OMIM:618129"	"Muscular dystrophy, limb-girdle, autosomal dominant 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-07-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11842"	"2023-08-19"
"GENCC_000101-HGNC_1539-OMIM_620099-HP_0000006-GENCC_100004"	"HGNC:1539"	"CBFB"	"MONDO:0859307"	"cleidocranial dysplasia 2"	"OMIM:620099"	"Cleidocranial dysplasia 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1539"	"CBFB"	"OMIM:620099"	"Cleidocranial dysplasia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13502"	"2023-08-19"
"GENCC_000101-HGNC_1541-OMIM_613563-HP_0000006-GENCC_100002"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1541"	"CBL"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-04-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92755"	"2023-08-19"
"GENCC_000101-HGNC_26185-OMIM_619795-HP_0000007-GENCC_100004"	"HGNC:26185"	"CCDC134"	"MONDO:0030714"	"osteogenesis imperfecta, IIA 22"	"OMIM:619795"	"Osteogenesis imperfecta, type XXII"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26185"	"CCDC134"	"OMIM:619795"	"Osteogenesis imperfecta, type XXII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-09 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14204"	"2025-01-17"
"GENCC_000101-HGNC_30460-OMIM_620153-HP_0000007-GENCC_100004"	"HGNC:30460"	"CENATAC"	"MONDO:0859329"	"mosaic variegated aneuploidy syndrome 4"	"OMIM:620153"	"?Mosaic variegated aneuploidy syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30460"	"CCDC84"	"OMIM:620153"	"Mosaic variegated aneuploidy syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42227"	"2023-08-19"
"GENCC_000101-HGNC_11919-OMIM_606843-HP_0000007-GENCC_100003"	"HGNC:11919"	"CD40"	"MONDO:0011735"	"hyper-IgM syndrome type 3"	"OMIM:606843"	"Immunodeficiency with hyper-IgM, type 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11919"	"CD40"	"OMIM:606843"	"Immunodeficiency with hyper-IgM, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42298"	"2023-08-19"
"GENCC_000101-HGNC_1744-OMIM_613805-HP_0000007-GENCC_100004"	"HGNC:1744"	"CDC6"	"MONDO:0013432"	"Meier-Gorlin syndrome 5"	"OMIM:613805"	"Meier-Gorlin syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1744"	"CDC6"	"OMIM:613805"	"Meier-Gorlin syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92772"	"2023-08-19"
"GENCC_000101-HGNC_16783-OMIM_608266-HP_0000006-GENCC_100002"	"HGNC:16783"	"CDC73"	"MONDO:0012004"	"parathyroid gland carcinoma"	"OMIM:608266"	"Parathyroid carcinoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16783"	"CDC73"	"OMIM:608266"	"Parathyroid carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-02-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61813"	"2023-08-19"
"GENCC_000101-HGNC_16783-OMIM_145001-HP_0000006-GENCC_100001"	"HGNC:16783"	"CDC73"	"MONDO:0007768"	"hyperparathyroidism 2 with jaw tumors"	"OMIM:145001"	"Hyperparathyroidism-jaw tumor syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16783"	"CDC73"	"OMIM:145001"	"Hyperparathyroidism-jaw tumor syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-02-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61848"	"2023-08-19"
"GENCC_000101-HGNC_1754-OMIM_612580-HP_0000006-GENCC_100004"	"HGNC:1754"	"CDH15"	"MONDO:0012946"	"intellectual disability, autosomal dominant 3"	"OMIM:612580"	"Intellectual developmental disorder, autosomal dominant 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1754"	"CDH15"	"OMIM:612580"	"Intellectual developmental disorder, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"8882"	"2023-08-19"
"GENCC_000101-HGNC_14550-OMIM_613660-HP_0000007-GENCC_100001"	"HGNC:14550"	"CDHR1"	"MONDO:0013348"	"cone-rod dystrophy 15"	"OMIM:613660"	"Retinitis pigmentosa 65"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14550"	"CDHR1"	"OMIM:613660"	"Retinitis pigmentosa 65"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-03-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"67373"	"2023-08-19"
"GENCC_000101-HGNC_1787-OMIM_155755-HP_0000006-GENCC_100004"	"HGNC:1787"	"CDKN2A"	"MONDO:0007967"	"melanoma and neural system tumor syndrome"	"OMIM:155755"	"{Melanoma and neural system tumor syndrome}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1787"	"CDKN2A"	"OMIM:155755"	"Melanoma and neural system tumor syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-08-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92795"	"2023-08-19"
"GENCC_000101-HGNC_1802-OMIM_270300-HP_0000007-GENCC_100003"	"HGNC:1802"	"CDSN"	"MONDO:0024548"	"peeling skin syndrome 1"	"OMIM:270300"	"Peeling skin syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1802"	"CDSN"	"OMIM:270300"	"Peeling skin syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-11-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92796"	"2023-08-19"
"GENCC_000101-HGNC_1802-OMIM_146520-HP_0000006-GENCC_100003"	"HGNC:1802"	"CDSN"	"MONDO:0007805"	"hypotrichosis 2"	"OMIM:146520"	"Hypotrichosis 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1802"	"CDSN"	"OMIM:146520"	"Hypotrichosis 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-11-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92799"	"2023-08-19"
"GENCC_000101-HGNC_1833-OMIM_601626-HP_0000006-GENCC_100003"	"HGNC:1833"	"CEBPA"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1833"	"CEBPA"	"OMIM:601626"	"Leukemia, acute myeloid"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-02-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92798"	"2023-08-19"
"GENCC_000101-HGNC_29368-OMIM_620197-HP_0000007-GENCC_100004"	"HGNC:29368"	"CFAP74"	"MONDO:0859353"	"ciliary dyskinesia, primary, 49, without situs inversus"	"OMIM:620197"	"Ciliary dyskinesia, primary, 49, without situs inversus"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29368"	"CFAP74"	"OMIM:620197"	"Ciliary dyskinesia, primary, 49, without situs inversus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13377"	"2023-08-19"
"GENCC_000101-HGNC_4883-OMIM_126700-HP_0000006-GENCC_100002"	"HGNC:4883"	"CFH"	"MONDO:0007472"	"basal laminar drusen"	"OMIM:126700"	"Basal laminar drusen"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4883"	"CFH"	"OMIM:126700"	"Basal laminar drusen"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-01-19 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63043"	"2023-08-19"
"GENCC_000101-HGNC_4883-OMIM_235400-HP_0000006-GENCC_100003"	"HGNC:4883"	"CFH"	"MONDO:0009335"	"hemolytic uremic syndrome, atypical, susceptibility to, 1"	"OMIM:235400"	"{Hemolytic uremic syndrome, atypical, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4883"	"CFH"	"OMIM:235400"	"Hemolytic uremic syndrome, atypical, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63044"	"2023-08-19"
"GENCC_000101-HGNC_4883-OMIM_609814-HP_0000007-GENCC_100003"	"HGNC:4883"	"CFH"	"MONDO:0012350"	"complement factor H deficiency"	"OMIM:609814"	"Complement factor H deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4883"	"CFH"	"OMIM:609814"	"Complement factor H deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63045"	"2023-08-19"
"GENCC_000101-HGNC_24668-OMIM_614809-HP_0000006-GENCC_100003"	"HGNC:24668"	"CFHR5"	"MONDO:0013892"	"C3 glomerulonephritis"	"OMIM:614809"	"Nephropathy due to CFHR5 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24668"	"CFHR5"	"OMIM:614809"	"Nephropathy due to CFHR5 deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-04-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13103"	"2023-08-19"
"GENCC_000101-HGNC_5394-OMIM_615439-HP_0000006-GENCC_100004"	"HGNC:5394"	"CFI"	"MONDO:0014189"	"age related macular degeneration 13"	"OMIM:615439"	"{Macular degeneration, age-related, 13, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5394"	"CFI"	"OMIM:615439"	"Macular degeneration, age-related, 13, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"82153"	"2023-08-19"
"GENCC_000101-HGNC_5394-OMIM_612923-HP_0000006-GENCC_100004"	"HGNC:5394"	"CFI"	"MONDO:0013041"	"atypical hemolytic-uremic syndrome with I factor anomaly"	"OMIM:612923"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 3}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5394"	"CFI"	"OMIM:612923"	"Hemolytic uremic syndrome, atypical, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13672"	"2023-08-19"
"GENCC_000101-HGNC_16816-OMIM_619873-HP_0000006-GENCC_100002"	"HGNC:16816"	"CHD5"	"MONDO:0859249"	"parenti-mignot neurodevelopmental syndrome"	"OMIM:619873"	"Parenti-Mignot neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16816"	"CHD5"	"OMIM:619873"	"Parenti-Mignot neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-05-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15429"	"2023-08-19"
"GENCC_000101-HGNC_1937-OMIM_620023-HP_0000007-GENCC_100004"	"HGNC:1937"	"CHKA"	"MONDO:0859282"	"neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"	"OMIM:620023"	"Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1937"	"CHKA"	"OMIM:620023"	"Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13739"	"2023-08-19"
"GENCC_000101-HGNC_2021-OMIM_619512-HP_0000006-GENCC_100003"	"HGNC:2021"	"CLCN3"	"MONDO:0859187"	"neurodevelopmental disorder with hypotonia and brain abnormalities"	"OMIM:619512"	"Neurodevelopmental disorder with hypotonia and brain abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2021"	"CLCN3"	"OMIM:619512"	"Neurodevelopmental disorder with hypotonia and brain abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-05-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14862"	"2023-08-19"
"GENCC_000101-HGNC_2021-OMIM_619517-HP_0000007-GENCC_100004"	"HGNC:2021"	"CLCN3"	"MONDO:0859188"	"neurodevelopmental disorder with seizures and brain abnormalities"	"OMIM:619517"	"Neurodevelopmental disorder with seizures and brain abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2021"	"CLCN3"	"OMIM:619517"	"Neurodevelopmental disorder with seizures and brain abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13111"	"2023-08-19"
"GENCC_000101-HGNC_2022-OMIM_300114-HP_0001417-GENCC_100002"	"HGNC:2022"	"CLCN4"	"MONDO:0010250"	"intellectual disability, X-linked 49"	"OMIM:300114"	"Raynaud-Claes syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2022"	"CLCN4"	"OMIM:300114"	"Raynaud-Claes syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-03-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17074"	"2023-08-19"
"GENCC_000101-HGNC_2024-OMIM_619173-HP_0000006-GENCC_100004"	"HGNC:2024"	"CLCN6"	"MONDO:0030947"	"neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities"	"OMIM:619173"	"Ceroid lipofuscinosis, neuronal, 15"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2024"	"CLCN6"	"OMIM:619173"	"Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15816"	"2023-08-19"
"GENCC_000101-HGNC_7877-OMIM_618500-HP_0000006-GENCC_100003"	"HGNC:7877"	"CNOT1"	"MONDO:0032787"	"holoprosencephaly 12 with or without pancreatic agenesis"	"OMIM:618500"	"Holoprosencephaly 12, with or without pancreatic agenesis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7877"	"CNOT1"	"OMIM:618500"	"Holoprosencephaly 12, with or without pancreatic agenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13422"	"2023-08-19"
"GENCC_000101-HGNC_29932-OMIM_618266-HP_0000007-GENCC_100004"	"HGNC:29932"	"COASY"	"MONDO:0032643"	"pontocerebellar hypoplasia, type 12"	"OMIM:618266"	"Pontocerebellar hypoplasia, type 12"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29932"	"COASY"	"OMIM:618266"	"Pontocerebellar hypoplasia, type 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13726"	"2023-08-19"
"GENCC_000101-HGNC_2186-OMIM_618533-HP_0000006-GENCC_100003"	"HGNC:2186"	"COL11A1"	"MONDO:0032802"	"hearing loss, autosomal dominant 37"	"OMIM:618533"	"Deafness, autosomal dominant 37"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2186"	"COL11A1"	"OMIM:618533"	"Deafness, autosomal dominant 37"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-04-26 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13110"	"2023-08-19"
"GENCC_000101-HGNC_2187-OMIM_601868-HP_0000006-GENCC_100004"	"HGNC:2187"	"COL11A2"	"MONDO:0011159"	"autosomal dominant nonsyndromic hearing loss 13"	"OMIM:601868"	"Deafness, autosomal dominant 13"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2187"	"COL11A2"	"OMIM:601868"	"Deafness, autosomal dominant 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92979"	"2023-08-19"
"GENCC_000101-HGNC_2197-OMIM_619115-HP_0000006-GENCC_100003"	"HGNC:2197"	"COL1A1"	"MONDO:0030854"	"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1"	"OMIM:619115"	"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2197"	"COL1A1"	"OMIM:619115"	"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-02-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13369"	"2023-08-19"
"GENCC_000101-HGNC_2197-OMIM_114000-HP_0000006-GENCC_100003"	"HGNC:2197"	"COL1A1"	"MONDO:0007244"	"Caffey disease"	"OMIM:114000"	"Caffey disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2197"	"COL1A1"	"OMIM:114000"	"Caffey disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-03-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92099"	"2023-08-19"
"GENCC_000101-HGNC_2198-OMIM_619120-HP_0000006-GENCC_100003"	"HGNC:2198"	"COL1A2"	"MONDO:0030855"	"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"	"OMIM:619120"	"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2198"	"COL1A2"	"OMIM:619120"	"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-02-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13366"	"2023-08-19"
"GENCC_000101-HGNC_2203-OMIM_614483-HP_0000006-GENCC_100003"	"HGNC:2203"	"COL4A2"	"MONDO:0013773"	"porencephaly 2"	"OMIM:614483"	"Brain small vessel disease 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2203"	"COL4A2"	"OMIM:614483"	"Brain small vessel disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-04-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92935"	"2023-08-19"
"GENCC_000101-HGNC_2219-OMIM_620022-HP_0000007-GENCC_100001"	"HGNC:2219"	"COL9A3"	"MONDO:0031047"	"Stickler syndrome, type 6"	"OMIM:620022"	"Stickler syndrome, type VI"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2219"	"COL9A3"	"OMIM:620022"	"Stickler syndrome, type VI"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-09-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"88968"	"2023-08-19"
"GENCC_000101-HGNC_2232-OMIM_619884-HP_0000006-GENCC_100003"	"HGNC:2232"	"COPB2"	"MONDO:0859253"	"osteoporosis, childhood- or juvenile-onset, with developmental delay"	"OMIM:619884"	"Osteoporosis, childhood- or juvenile-onset, with developmental delay"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2232"	"COPB2"	"OMIM:619884"	"Osteoporosis, childhood- or juvenile-onset, with developmental delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-11-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13630"	"2023-08-19"
"GENCC_000101-HGNC_19041-OMIM_615573-HP_0000007-GENCC_100001"	"HGNC:19041"	"COQ8B"	"MONDO:0014257"	"nephrotic syndrome, type 9"	"OMIM:615573"	"Nephrotic syndrome, type 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19041"	"COQ8B"	"OMIM:615573"	"Nephrotic syndrome, type 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"76257"	"2023-08-19"
"GENCC_000101-HGNC_2261-OMIM_620275-HP_0000007-GENCC_100004"	"HGNC:2261"	"COX11"	"MONDO:0859520"	"mitochondrial complex IV deficiency, nuclear type 23"	"OMIM:620275"	"Mitochondrial complex IV deficiency, nuclear type 23"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2261"	"COX11"	"OMIM:620275"	"Mitochondrial complex IV deficiency, nuclear type 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13449"	"2023-08-19"
"GENCC_000101-HGNC_2267-OMIM_619064-HP_0000007-GENCC_100004"	"HGNC:2267"	"COX5A"	"MONDO:0033655"	"mitochondrial complex 4 deficiency, nuclear type 20"	"OMIM:619064"	"Mitochondrial complex IV deficiency, nuclear type 20"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2267"	"COX5A"	"OMIM:619064"	"Mitochondrial complex IV deficiency, nuclear type 20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17459"	"2023-08-19"
"GENCC_000101-HGNC_17245-OMIM_614418-HP_0000007-GENCC_100004"	"HGNC:17245"	"CPA6"	"MONDO:0024566"	"febrile seizures, familial, 11"	"OMIM:614418"	"Febrile seizures, familial, 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17245"	"CPA6"	"OMIM:614418"	"Febrile seizures, familial, 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61943"	"2023-08-19"
"GENCC_000101-HGNC_17245-OMIM_614417-HP_0000006-GENCC_100004"	"HGNC:17245"	"CPA6"	"MONDO:0013741"	"familial temporal lobe epilepsy 5"	"OMIM:614417"	"Epilepsy, familial temporal lobe, 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17245"	"CPA6"	"OMIM:614417"	"Epilepsy, familial temporal lobe, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13376"	"2023-08-19"
"GENCC_000101-HGNC_2326-OMIM_619876-HP_0000007-GENCC_100004"	"HGNC:2326"	"CPSF3"	"MONDO:0859250"	"neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	"OMIM:619876"	"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2326"	"CPSF3"	"OMIM:619876"	"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13771"	"2023-08-19"
"GENCC_000101-HGNC_18855-OMIM_619324-HP_0000006-GENCC_100004"	"HGNC:18855"	"CREB3L3"	"MONDO:0859149"	"hypertriglyceridemia 2"	"OMIM:619324"	"Hypertriglyceridemia 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18855"	"CREB3L3"	"OMIM:619324"	"Hypertriglyceridemia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"8190"	"2023-08-19"
"GENCC_000101-HGNC_16148-OMIM_620167-HP_0000007-GENCC_100004"	"HGNC:16148"	"CRLS1"	"MONDO:0859337"	"combined oxidative phosphorylation deficiency 57"	"OMIM:620167"	"Combined oxidative phosphorylation deficiency 57"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16148"	"CRLS1"	"OMIM:620167"	"Combined oxidative phosphorylation deficiency 57"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13539"	"2023-08-19"
"GENCC_000101-HGNC_2389-OMIM_613869-HP_0000007-GENCC_100004"	"HGNC:2389"	"CRYAB"	"MONDO:0013472"	"fatal infantile hypertonic myofibrillar myopathy"	"OMIM:613869"	"Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2389"	"CRYAB"	"OMIM:613869"	"Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92929"	"2023-08-19"
"GENCC_000101-HGNC_2411-OMIM_115700-HP_0000006-GENCC_100002"	"HGNC:2411"	"CRYGD"	"MONDO:0007281"	"cataract 4 multiple types"	"OMIM:115700"	"Cataract 4, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2411"	"CRYGD"	"OMIM:115700"	"Cataract 4, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-03-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"8154"	"2023-08-19"
"GENCC_000101-HGNC_2472-OMIM_607482-HP_0000006-GENCC_100004"	"HGNC:2472"	"CSRP3"	"MONDO:0011840"	"dilated cardiomyopathy 1M"	"OMIM:607482"	"?Cardiomyopathy, dilated, 1M"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2472"	"CSRP3"	"OMIM:607482"	"Cardiomyopathy, dilated, 1M"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64034"	"2023-08-19"
"GENCC_000101-HGNC_2478-OMIM_618535-HP_0000007-GENCC_100004"	"HGNC:2478"	"CST6"	"MONDO:0032804"	"ectodermal dysplasia 15, hypohidrotic/hair type"	"OMIM:618535"	"?Ectodermal dysplasia 15, hypohidrotic/hair type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2478"	"CST6"	"OMIM:618535"	"Ectodermal dysplasia 15, hypohidrotic/hair type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13321"	"2023-08-19"
"GENCC_000101-HGNC_17748-OMIM_617466-HP_0000006-GENCC_100004"	"HGNC:17748"	"DACT1"	"MONDO:0054582"	"Townes-Brocks syndrome 2"	"OMIM:617466"	"Townes-Brocks syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17748"	"DACT1"	"OMIM:617466"	"Townes-Brocks syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17166"	"2023-08-19"
"GENCC_000101-HGNC_17641-OMIM_620133-HP_0000007-GENCC_100004"	"HGNC:17641"	"DCLRE1B"	"MONDO:0859319"	"dyskeratosis congenita, autosomal recessive 8"	"OMIM:620133"	"Dyskeratosis congenita, autosomal recessive 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17641"	"DCLRE1B"	"OMIM:620133"	"Dyskeratosis congenita, autosomal recessive 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13314"	"2023-08-19"
"GENCC_000101-HGNC_2711-OMIM_168605-HP_0000006-GENCC_100003"	"HGNC:2711"	"DCTN1"	"MONDO:0008201"	"Perry syndrome"	"OMIM:168605"	"Perry syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2711"	"DCTN1"	"OMIM:168605"	"Perry syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-04-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92852"	"2023-08-19"
"GENCC_000101-HGNC_2711-OMIM_607641-HP_0000006-GENCC_100003"	"HGNC:2711"	"DCTN1"	"MONDO:0011879"	"neuronopathy, distal hereditary motor, type 7B"	"OMIM:607641"	"Neuronopathy, distal hereditary motor, autosomal dominant 14"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2711"	"DCTN1"	"OMIM:607641"	"Neuronopathy, distal hereditary motor, type VIIB"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-04-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92856"	"2023-08-19"
"GENCC_000101-HGNC_18674-OMIM_616871-HP_0000006-GENCC_100001"	"HGNC:18674"	"DDX41"	"MONDO:0014809"	"DDX41-related hematologic malignancy predisposition syndrome"	"OMIM:616871"	"{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18674"	"DDX41"	"OMIM:616871"	"Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-06-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18808"	"2023-08-19"
"GENCC_000101-HGNC_2973-OMIM_614388-HP_0000007-GENCC_100003"	"HGNC:2973"	"DNM1L"	"MONDO:0013726"	"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"OMIM:614388"	"Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2973"	"DNM1L"	"OMIM:614388"	"Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-10-19 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13582"	"2023-08-19"
"GENCC_000101-HGNC_28662-OMIM_620066-HP_0000007-GENCC_100004"	"HGNC:28662"	"DOHH"	"MONDO:0859293"	"neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment"	"OMIM:620066"	"Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28662"	"DOHH"	"OMIM:620066"	"Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13593"	"2023-08-19"
"GENCC_000101-HGNC_24270-OMIM_620070-HP_0000007-GENCC_100004"	"HGNC:24270"	"DPH5"	"MONDO:0859295"	"neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"	"OMIM:620070"	"Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24270"	"DPH5"	"OMIM:620070"	"Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13143"	"2023-08-19"
"GENCC_000101-HGNC_3049-OMIM_612877-HP_0000007-GENCC_100004"	"HGNC:3049"	"DSG2"	"MONDO:0013030"	"dilated cardiomyopathy 1BB"	"OMIM:612877"	"Cardiomyopathy, dilated, 1BB"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3049"	"DSG2"	"OMIM:612877"	"Cardiomyopathy, dilated, 1BB"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-10-26 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"6279"	"2023-08-19"
"GENCC_000101-HGNC_3052-OMIM_607655-HP_0000007-GENCC_100004"	"HGNC:3052"	"DSP"	"MONDO:0011882"	"skin fragility-woolly hair-palmoplantar keratoderma syndrome"	"OMIM:607655"	"OMIM:607655"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3052"	"DSP"	"OMIM:607655"	"Skin fragility-woolly hair syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92254"	"2023-08-19"
"GENCC_000101-HGNC_3052-OMIM_612908-HP_0000006-GENCC_100004"	"HGNC:3052"	"DSP"	"MONDO:0013034"	"keratosis palmoplantaris striata 2"	"OMIM:612908"	"Keratosis palmoplantaris striata II"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3052"	"DSP"	"OMIM:612908"	"Keratosis palmoplantaris striata II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92255"	"2023-08-19"
"GENCC_000101-HGNC_3052-OMIM_605676-HP_0000007-GENCC_100003"	"HGNC:3052"	"DSP"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"OMIM:605676"	"Cardiomyopathy, dilated, with woolly hair and keratoderma"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3052"	"DSP"	"OMIM:605676"	"Cardiomyopathy, dilated, with woolly hair and keratoderma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78100"	"2023-08-19"
"GENCC_000101-HGNC_3052-OMIM_615821-HP_0000006-GENCC_100003"	"HGNC:3052"	"DSP"	"MONDO:0014355"	"cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis"	"OMIM:615821"	"Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3052"	"DSP"	"OMIM:615821"	"Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78107"	"2023-08-19"
"GENCC_000101-HGNC_3092-OMIM_615812-HP_0000006-GENCC_100003"	"HGNC:3092"	"DYRK1B"	"MONDO:0014352"	"abdominal obesity-metabolic syndrome 3"	"OMIM:615812"	"Abdominal obesity-metabolic syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3092"	"DYRK1B"	"OMIM:615812"	"Abdominal obesity-metabolic syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-01-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13073"	"2023-08-19"
"GENCC_000101-HGNC_3180-OMIM_277580-HP_0032113-GENCC_100003"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"OMIM:277580"	"Waardenburg syndrome, type 4A"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3180"	"EDNRB"	"OMIM:277580"	"Waardenburg syndrome, type 4A"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-04-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92277"	"2023-08-19"
"GENCC_000101-HGNC_1232-OMIM_609820-HP_0000006-GENCC_100001"	"HGNC:1232"	"EGLN1"	"MONDO:0012353"	"erythrocytosis, familial, 3"	"OMIM:609820"	"Erythrocytosis, familial, 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1232"	"EGLN1"	"OMIM:609820"	"Erythrocytosis, familial, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-10-22 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61797"	"2025-01-17"
"GENCC_000101-HGNC_1232-OMIM_609070-HP_0000006-GENCC_100004"	"HGNC:1232"	"EGLN1"	"MONDO:0044274"	"hemoglobin, high altitude adaptation"	"OMIM:609070"	"[Hemoglobin, high altitude adaptation]"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1232"	"EGLN1"	"OMIM:609070"	"Hemoglobin, high altitude adaptation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-08-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"77614"	"2023-08-19"
"GENCC_000101-HGNC_14418-OMIM_618527-HP_0000007-GENCC_100004"	"HGNC:14418"	"ELOVL1"	"MONDO:0032798"	"ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features"	"OMIM:618527"	"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14418"	"ELOVL1"	"OMIM:618527"	"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13172"	"2023-08-19"
"GENCC_000101-HGNC_27609-OMIM_619264-HP_0000007-GENCC_100001"	"HGNC:27609"	"EMC10"	"MONDO:0031011"	"neurodevelopmental disorder with dysmorphic facies and variable seizures"	"OMIM:619264"	"Neurodevelopmental disorder with dysmorphic facies and variable seizures"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27609"	"EMC10"	"OMIM:619264"	"Neurodevelopmental disorder with dysmorphic facies and variable seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-13 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14711"	"2025-01-17"
"GENCC_000101-HGNC_3330-OMIM_600348-HP_0000007-GENCC_100003"	"HGNC:3330"	"EML1"	"MONDO:0010873"	"band heterotopia of brain"	"OMIM:600348"	"Band heterotopia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3330"	"EML1"	"OMIM:600348"	"Band heterotopia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-03-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"3499"	"2023-08-19"
"GENCC_000101-HGNC_3341-OMIM_269160-HP_0000006-GENCC_100003"	"HGNC:3341"	"EMX2"	"MONDO:0010011"	"schizencephaly"	"OMIM:269160"	"Schizencephaly"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3341"	"EMX2"	"OMIM:269160"	"Schizencephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92296"	"2023-08-19"
"GENCC_000101-HGNC_3356-OMIM_615522-HP_0000006-GENCC_100004"	"HGNC:3356"	"ENPP1"	"MONDO:0014227"	"hypopigmentation-punctate palmoplantar keratoderma syndrome"	"OMIM:615522"	"Cole disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3356"	"ENPP1"	"OMIM:615522"	"Cole disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"74194"	"2023-08-19"
"GENCC_000101-HGNC_19987-OMIM_620283-HP_0000006-GENCC_100004"	"HGNC:19987"	"EPHA10"	"MONDO:0859527"	"hearing loss, autosomal dominant 88"	"OMIM:620283"	"?Deafness, autosomal dominant 88"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19987"	"EPHA10"	"OMIM:620283"	"Deafness, autosomal dominant 88"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13358"	"2023-08-19"
"GENCC_000101-HGNC_3432-OMIM_615515-HP_0000006-GENCC_100004"	"HGNC:3432"	"ERBB4"	"MONDO:0014223"	"amyotrophic lateral sclerosis type 19"	"OMIM:615515"	"Amyotrophic lateral sclerosis 19"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3432"	"ERBB4"	"OMIM:615515"	"Amyotrophic lateral sclerosis 19"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-10-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78054"	"2023-08-19"
"GENCC_000101-HGNC_26922-OMIM_615715-HP_0000007-GENCC_100001"	"HGNC:26922"	"ERCC6L2"	"MONDO:0014317"	"pancytopenia-developmental delay syndrome"	"OMIM:615715"	"Bone marrow failure syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26922"	"ERCC6L2"	"OMIM:615715"	"Bone marrow failure syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-01-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"71597"	"2023-08-19"
"GENCC_000101-HGNC_13281-OMIM_609006-HP_0000006-GENCC_100004"	"HGNC:13281"	"ESPN"	"MONDO:0012170"	"autosomal recessive nonsyndromic hearing loss 36"	"OMIM:609006"	"Deafness, autosomal recessive 36"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13281"	"ESPN"	"OMIM:609006"	"Deafness, neurosensory, without vestibular involvement, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"6619"	"2023-08-19"
"GENCC_000101-HGNC_17085-OMIM_618395-HP_0000007-GENCC_100002"	"HGNC:17085"	"EXOC6B"	"MONDO:0032724"	"spondyloepimetaphyseal dysplasia with joint laxity, type 3"	"OMIM:618395"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17085"	"EXOC6B"	"OMIM:618395"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-23 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"75871"	"2025-01-17"
"GENCC_000101-HGNC_3584-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:3584"	"FANCC"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3584"	"FANCC"	"MONDO:0007254"	"breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2024-06-05 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"89684"	"2025-01-17"
"GENCC_000101-HGNC_3584-MONDO_0005575-HP_0000006-GENCC_100004"	"HGNC:3584"	"FANCC"	"MONDO:0005575"	"colorectal cancer"	"MONDO:0005575"	"colorectal cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3584"	"FANCC"	"MONDO:0005575"	"Colorectal cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"71507"	"2023-08-19"
"GENCC_000101-HGNC_3584-MONDO_0008170-HP_0000006-GENCC_100004"	"HGNC:3584"	"FANCC"	"MONDO:0008170"	"ovarian cancer"	"MONDO:0008170"	"ovarian cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3584"	"FANCC"	"MONDO:0008170"	"Ovarian cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13014"	"2023-08-19"
"GENCC_000101-HGNC_3584-MONDO_0009831-HP_0000006-GENCC_100004"	"HGNC:3584"	"FANCC"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3584"	"FANCC"	"MONDO:0009831"	"malignant pancreatic neoplasm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-04 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13015"	"2025-01-17"
"GENCC_000101-HGNC_23168-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:23168"	"FANCM"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23168"	"FANCM"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2022-12-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"19600"	"2023-08-19"
"GENCC_000101-HGNC_11936-OMIM_601859-HP_0000006-GENCC_100004"	"HGNC:11936"	"FASLG"	"MONDO:0011158"	"autoimmune lymphoproliferative syndrome type 1"	"OMIM:601859"	"{Autoimmune lymphoproliferative syndrome}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11936"	"FASLG"	"OMIM:601859"	"Autoimmune lymphoproliferative syndrome, type IB"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42232"	"2023-08-19"
"GENCC_000101-HGNC_3596-OMIM_617769-HP_0000006-GENCC_100004"	"HGNC:3596"	"FAT2"	"MONDO:0033480"	"spinocerebellar ataxia 45"	"OMIM:617769"	"Spinocerebellar ataxia 45"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3596"	"FAT2"	"OMIM:617769"	"Spinocerebellar ataxia 45"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11977"	"2023-08-19"
"GENCC_000101-HGNC_3603-OMIM_184900-HP_0000006-GENCC_100004"	"HGNC:3603"	"FBN1"	"MONDO:0008492"	"stiff skin syndrome"	"OMIM:184900"	"Stiff skin syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3603"	"FBN1"	"OMIM:184900"	"Stiff skin syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63389"	"2023-08-19"
"GENCC_000101-HGNC_3603-OMIM_102370-HP_0000006-GENCC_100002"	"HGNC:3603"	"FBN1"	"MONDO:0007055"	"Acromicric dysplasia"	"OMIM:102370"	"Acromicric dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3603"	"FBN1"	"OMIM:102370"	"Acromicric dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-12-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13943"	"2023-08-19"
"GENCC_000101-HGNC_16510-OMIM_615979-HP_0000007-GENCC_100004"	"HGNC:16510"	"FBXO31"	"MONDO:0014430"	"intellectual disability, autosomal recessive 45"	"OMIM:615979"	"?Intellectual developmental disorder, autosomal recessive 45"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16510"	"FBXO31"	"OMIM:615979"	"Intellectual developmental disorder, autosomal recessive 45"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"76227"	"2023-08-19"
"GENCC_000101-HGNC_16712-OMIM_620012-HP_0000006-GENCC_100002"	"HGNC:16712"	"FBXW7"	"MONDO:0859280"	"developmental delay, hypotonia, and impaired language"	"OMIM:620012"	"Developmental delay, hypotonia, and impaired language"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16712"	"FBXW7"	"OMIM:620012"	"Developmental delay, hypotonia, and impaired language"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15356"	"2023-08-19"
"GENCC_000101-HGNC_3700-MONDO_0035540-HP_0000006-GENCC_100002"	"HGNC:3700"	"FH"	"MONDO:0035540"	"pheochromocytoma-paraganglioma"	"MONDO:0035540"	"pheochromocytoma-paraganglioma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3700"	"FH"	"MONDO:0035540"	"Phaeochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-08-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"89790"	"2023-08-19"
"GENCC_000101-HGNC_3722-OMIM_620103-HP_0000007-GENCC_100003"	"HGNC:3722"	"FKBP6"	"MONDO:0031083"	"spermatogenic failure 77"	"OMIM:620103"	"Spermatogenic failure 77"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3722"	"FKBP6"	"OMIM:620103"	"Spermatogenic failure 77"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-03-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13348"	"2023-08-19"
"GENCC_000101-HGNC_27310-MONDO_0005575-HP_0000006-GENCC_100004"	"HGNC:27310"	"FLCN"	"MONDO:0005575"	"colorectal cancer"	"MONDO:0005575"	"colorectal cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:27310"	"FLCN"	"MONDO:0005575"	"Colorectal cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13390"	"2023-08-19"
"GENCC_000101-HGNC_3749-OMIM_617443-HP_0000006-GENCC_100003"	"HGNC:3749"	"FLI1"	"MONDO:0054577"	"bleeding disorder, platelet-type, 21"	"OMIM:617443"	"Bleeding disorder, platelet-type, 21"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3749"	"FLI1"	"OMIM:617443"	"Bleeding disorder, platelet-type, 21"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"89127"	"2023-08-19"
"GENCC_000101-HGNC_3756-OMIM_614065-HP_0000006-GENCC_100003"	"HGNC:3756"	"FLNC"	"MONDO:0013550"	"distal myopathy with posterior leg and anterior hand involvement"	"OMIM:614065"	"Myopathy, distal, 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3756"	"FLNC"	"OMIM:614065"	"Myopathy, distal, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63520"	"2023-08-19"
"GENCC_000101-HGNC_3756-OMIM_617047-HP_0000006-GENCC_100003"	"HGNC:3756"	"FLNC"	"MONDO:0014883"	"hypertrophic cardiomyopathy 26"	"OMIM:617047"	"Cardiomyopathy, familial restrictive 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3756"	"FLNC"	"OMIM:617047"	"Cardiomyopathy, familial restrictive 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"75805"	"2023-08-19"
"GENCC_000101-HGNC_3756-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:3756"	"FLNC"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3756"	"FLNC"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17188"	"2023-08-19"
"GENCC_000101-HGNC_3778-OMIM_601894-HP_0000006-GENCC_100003"	"HGNC:3778"	"FN1"	"MONDO:0011165"	"glomerulopathy with fibronectin deposits 2"	"OMIM:601894"	"Glomerulopathy with fibronectin deposits 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3778"	"FN1"	"OMIM:601894"	"Glomerulopathy with fibronectin deposits 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63436"	"2023-08-19"
"GENCC_000101-HGNC_23377-OMIM_619991-HP_0000007-GENCC_100003"	"HGNC:23377"	"FOCAD"	"MONDO:0859273"	"liver disease, severe congenital"	"OMIM:619991"	"Liver disease, severe congenital"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23377"	"FOCAD"	"OMIM:619991"	"Liver disease, severe congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13455"	"2023-08-19"
"GENCC_000101-HGNC_3801-OMIM_153400-HP_0000006-GENCC_100004"	"HGNC:3801"	"FOXC2"	"MONDO:0007922"	"lymphedema-distichiasis syndrome"	"OMIM:153400"	"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3801"	"FOXC2"	"OMIM:153400"	"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-19 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42272"	"2023-08-19"
"GENCC_000101-HGNC_3815-OMIM_600791-HP_0000007-GENCC_100004"	"HGNC:3815"	"FOXI1"	"MONDO:0010933"	"autosomal recessive nonsyndromic hearing loss 4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3815"	"FOXI1"	"OMIM:600791"	"Enlarged vestibular aqueduct"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63563"	"2023-08-19"
"GENCC_000101-HGNC_1162-OMIM_620113-HP_0000007-GENCC_100003"	"HGNC:1162"	"FRA10AC1"	"MONDO:0859312"	"neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities"	"OMIM:620113"	"Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1162"	"FRA10AC1"	"OMIM:620113"	"Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-03-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13349"	"2023-08-19"
"GENCC_000101-HGNC_28214-OMIM_620094-HP_0000006-GENCC_100003"	"HGNC:28214"	"FRMD5"	"MONDO:0859305"	"neurodevelopmental disorder with eye movement abnormalities and ataxia"	"OMIM:620094"	"Neurodevelopmental disorder with eye movement abnormalities and ataxia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28214"	"FRMD5"	"OMIM:620094"	"Neurodevelopmental disorder with eye movement abnormalities and ataxia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-11-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13576"	"2023-08-19"
"GENCC_000101-HGNC_3960-OMIM_607921-HP_0000006-GENCC_100005"	"HGNC:3960"	"FSCN2"	"MONDO:0011935"	"retinitis pigmentosa 30"	"OMIM:607921"	"Retinitis pigmentosa 30"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3960"	"FSCN2"	"OMIM:607921"	"Retinitis pigmentosa 30"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2022-04-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61521"	"2023-08-19"
"GENCC_000101-HGNC_29500-OMIM_618324-HP_0000007-GENCC_100004"	"HGNC:29500"	"FCSK"	"MONDO:0020777"	"congenital disorder of glycosylation with defective fucosylation 2"	"OMIM:618324"	"Congenital disorder of glycosylation with defective fucosylation 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29500"	"FUK"	"OMIM:618324"	"Congenital disorder of glycosylation with defective fucosylation 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-18 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11421"	"2025-01-17"
"GENCC_000101-HGNC_4010-OMIM_614782-HP_0000006-GENCC_100004"	"HGNC:4010"	"FUS"	"MONDO:0013888"	"tremor, hereditary essential, 4"	"OMIM:614782"	"Essential tremor, hereditary, 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4010"	"FUS"	"OMIM:614782"	"Essential tremor, hereditary, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63442"	"2023-08-19"
"GENCC_000101-HGNC_24824-OMIM_620145-HP_0000006-GENCC_100003"	"HGNC:24824"	"FZR1"	"MONDO:0859325"	"developmental and epileptic encephalopathy 109"	"OMIM:620145"	"Developmental and epileptic encephalopathy 109"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24824"	"FZR1"	"OMIM:620145"	"Developmental and epileptic encephalopathy 109"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13979"	"2023-08-19"
"GENCC_000101-HGNC_24861-OMIM_612541-HP_0000007-GENCC_100001"	"HGNC:24861"	"G6PC3"	"MONDO:0012930"	"autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"	"OMIM:612541"	"Neutropenia, severe congenital 4, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24861"	"G6PC3"	"OMIM:612541"	"Neutropenia, severe congenital 4, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"67371"	"2023-08-19"
"GENCC_000101-HGNC_4083-OMIM_617113-HP_0000006-GENCC_100001"	"HGNC:4083"	"GABRB3"	"MONDO:0014921"	"developmental and epileptic encephalopathy, 43"	"OMIM:617113"	"Developmental and epileptic encephalopathy 43"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4083"	"GABRB3"	"OMIM:617113"	"Developmental and epileptic encephalopathy 43"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"75186"	"2023-08-19"
"GENCC_000101-HGNC_4162-OMIM_619042-HP_0000006-GENCC_100003"	"HGNC:4162"	"GARS1"	"MONDO:0033621"	"spinal muscular atrophy, infantile, James type"	"OMIM:619042"	"Spinal muscular atrophy, infantile, James type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4162"	"GARS"	"OMIM:619042"	"Spinal muscular atrophy, infantile, James type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-03-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14201"	"2023-08-19"
"GENCC_000101-HGNC_4171-OMIM_614172-HP_0000006-GENCC_100001"	"HGNC:4171"	"GATA2"	"MONDO:0013607"	"monocytopenia with susceptibility to infections"	"OMIM:614172"	"Immunodeficiency 21"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4171"	"GATA2"	"OMIM:614172"	"Immunodeficiency 21"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-11-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78702"	"2023-08-19"
"GENCC_000101-HGNC_4173-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:4173"	"GATA4"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4173"	"GATA4"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"89348"	"2023-08-19"
"GENCC_000101-HGNC_4195-OMIM_602485-HP_0000006-GENCC_100001"	"HGNC:4195"	"GCK"	"MONDO:0011236"	"hyperinsulinism due to glucokinase deficiency"	"OMIM:602485"	"Hyperinsulinemic hypoglycemia, familial, 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4195"	"GCK"	"OMIM:602485"	"Hyperinsulinemic hypoglycemia, familial, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-01-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63137"	"2023-08-19"
"GENCC_000101-HGNC_4195-OMIM_606176-HP_0000007-GENCC_100003"	"HGNC:4195"	"GCK"	"MONDO:0100165"	"permanent neonatal diabetes mellitus 1"	"OMIM:606176"	"Diabetes mellitus, permanent neonatal 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4195"	"GCK"	"OMIM:606176"	"Diabetes mellitus, permanent neonatal 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-01-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13059"	"2023-08-19"
"GENCC_000101-HGNC_21690-OMIM_620200-HP_0000007-GENCC_100004"	"HGNC:21690"	"GET4"	"MONDO:0859356"	"congenital disorder of glycosylation, type IIy"	"OMIM:620200"	"?Congenital disorder of glycosylation, type IIy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21690"	"GET4"	"OMIM:620200"	"Congenital disorder of glycosylation, type IIy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13374"	"2023-08-19"
"GENCC_000101-HGNC_4237-OMIM_613107-HP_0000006-GENCC_100004"	"HGNC:4237"	"GFI1"	"MONDO:0013139"	"neutropenia, severe congenital, 2, autosomal dominant"	"OMIM:613107"	"Neutropenia, severe congenital 2, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4237"	"GFI1"	"OMIM:613107"	"Neutropenia, severe congenital 2, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13533"	"2023-08-19"
"GENCC_000101-HGNC_4243-OMIM_619887-HP_0000007-GENCC_100004"	"HGNC:4243"	"GFRA1"	"MONDO:0030822"	"renal hypodysplasia/aplasia 4"	"OMIM:619887"	"Renal hypodysplasia/aplasia 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4243"	"GFRA1"	"OMIM:619887"	"Renal hypodysplasia/aplasia 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13639"	"2023-08-19"
"GENCC_000101-HGNC_4284-OMIM_148210-HP_0000006-GENCC_100003"	"HGNC:4284"	"GJB2"	"MONDO:0007850"	"autosomal dominant keratitis-ichthyosis-hearing loss syndrome"	"OMIM:148210"	"Keratitis-ichthyosis-deafness syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4284"	"GJB2"	"OMIM:148210"	"Keratitis-ichthyosis-deafness syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-11-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"6365"	"2023-08-19"
"GENCC_000101-HGNC_4284-OMIM_601544-HP_0000006-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0011103"	"autosomal dominant nonsyndromic hearing loss 3A"	"OMIM:601544"	"Deafness, autosomal dominant 3A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4284"	"GJB2"	"OMIM:601544"	"Deafness, autosomal dominant 3A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-11-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13597"	"2023-08-19"
"GENCC_000101-HGNC_4332-OMIM_619325-HP_0000006-GENCC_100003"	"HGNC:4332"	"BICRA"	"MONDO:0025699"	"Coffin-Siris syndrome 12"	"OMIM:619325"	"Coffin-Siris syndrome 12"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4332"	"GLTSCR1"	"OMIM:619325"	"Coffin-Siris syndrome 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15819"	"2023-08-19"
"GENCC_000101-HGNC_4570-OMIM_260000-HP_0000007-GENCC_100001"	"HGNC:4570"	"GRHPR"	"MONDO:0009824"	"primary hyperoxaluria type 2"	"OMIM:260000"	"Hyperoxaluria, primary, type II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4570"	"GRHPR"	"OMIM:260000"	"Hyperoxaluria, primary, type II"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64662"	"2023-08-19"
"GENCC_000101-HGNC_4571-OMIM_619931-HP_0000007-GENCC_100004"	"HGNC:4571"	"GRIA1"	"MONDO:0030968"	"intellectual developmental disorder, autosomal recessive 76"	"OMIM:619931"	"?Intellectual developmental disorder, autosomal recessive 76"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4571"	"GRIA1"	"OMIM:619931"	"Intellectual developmental disorder, autosomal recessive 76"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13453"	"2023-08-19"
"GENCC_000101-HGNC_16915-OMIM_610738-HP_0000007-GENCC_100001"	"HGNC:16915"	"HAX1"	"MONDO:0012548"	"Kostmann syndrome"	"OMIM:610738"	"Neutropenia, severe congenital 3, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16915"	"HAX1"	"OMIM:610738"	"Neutropenia, severe congenital 3, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-01-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64274"	"2023-08-19"
"GENCC_000101-HGNC_14063-OMIM_619797-HP_0000006-GENCC_100004"	"HGNC:14063"	"HDAC4"	"MONDO:0859232"	"neurodevelopmental disorder with central hypotonia and dysmorphic facies"	"OMIM:619797"	"Neurodevelopmental disorder with central hypotonia and dysmorphic facies"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14063"	"HDAC4"	"OMIM:619797"	"Neurodevelopmental disorder with central hypotonia and dysmorphic facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-06 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64873"	"2025-01-17"
"GENCC_000101-HGNC_26087-OMIM_620072-HP_0000007-GENCC_100004"	"HGNC:26087"	"HEATR3"	"MONDO:0031071"	"Diamond-Blackfan anemia 21"	"OMIM:620072"	"Diamond-Blackfan anemia 21"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26087"	"HEATR3"	"OMIM:620072"	"Diamond-Blackfan anemia 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13509"	"2023-08-19"
"GENCC_000101-HGNC_26611-OMIM_620250-HP_0000007-GENCC_100004"	"HGNC:26611"	"HECTD4"	"MONDO:0859516"	"neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26611"	"HECTD4"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13324"	"2023-08-19"
"GENCC_000101-HGNC_26361-OMIM_613926-HP_0000006-GENCC_100003"	"HGNC:26361"	"HEPACAM"	"MONDO:0013491"	"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability"	"OMIM:613926"	"Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26361"	"HEPACAM"	"OMIM:613926"	"Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-04-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13107"	"2023-08-19"
"GENCC_000101-HGNC_4868-OMIM_615516-HP_0000007-GENCC_100003"	"HGNC:4868"	"HERC2"	"MONDO:0014224"	"developmental delay with autism spectrum disorder and gait instability"	"OMIM:615516"	"Intellectual developmental disorder, autosomal recessive 38"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4868"	"HERC2"	"OMIM:615516"	"Intellectual developmental disorder, autosomal recessive 38"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"80398"	"2023-08-19"
"GENCC_000101-HGNC_15736-OMIM_619983-HP_0000007-GENCC_100004"	"HGNC:15736"	"HID1"	"MONDO:0031028"	"developmental and epileptic encephalopathy 105 with hypopituitarism"	"OMIM:619983"	"Developmental and epileptic encephalopathy 105 with hypopituitarism"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15736"	"HID1"	"OMIM:619983"	"Developmental and epileptic encephalopathy 105 with hypopituitarism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11278"	"2023-08-19"
"GENCC_000101-HGNC_4787-OMIM_619758-HP_0000006-GENCC_100003"	"HGNC:4787"	"H4C3"	"MONDO:0030729"	"Tessadori-van Haaften neurodevelopmental syndrome 1"	"OMIM:619758"	"Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4787"	"HIST1H4C"	"OMIM:619758"	"Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-02-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11987"	"2023-08-19"
"GENCC_000101-HGNC_4790-OMIM_619950-HP_0000006-GENCC_100002"	"HGNC:4790"	"H4C5"	"MONDO:0030993"	"Tessadori-Van Haaften neurodevelopmental syndrome 3"	"OMIM:619950"	"Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4790"	"HIST1H4E"	"OMIM:619950"	"Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-02-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13712"	"2023-08-19"
"GENCC_000101-HGNC_4793-OMIM_619951-HP_0000006-GENCC_100004"	"HGNC:4793"	"H4C9"	"MONDO:0031000"	"Tessadori-Van Haaften neurodevelopmental syndrome 4"	"OMIM:619951"	"Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4793"	"HIST1H4I"	"OMIM:619951"	"Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13719"	"2023-08-19"
"GENCC_000101-HGNC_4785-OMIM_619759-HP_0000006-GENCC_100004"	"HGNC:4785"	"H4C11"	"MONDO:0030730"	"Tessadori-van Haaften neurodevelopmental syndrome 2"	"OMIM:619759"	"?Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4785"	"HIST1H4J"	"OMIM:619759"	"Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-02-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11317"	"2023-08-19"
"GENCC_000101-HGNC_19194-OMIM_603075-HP_0000006-GENCC_100004"	"HGNC:19194"	"HMCN1"	"MONDO:0011285"	"age related macular degeneration 1"	"OMIM:603075"	"{?Macular degeneration, age-related}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19194"	"HMCN1"	"OMIM:603075"	"Macular degeneration, age-related, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61212"	"2023-08-19"
"GENCC_000101-HGNC_5172-OMIM_209500-HP_0000007-GENCC_100002"	"HGNC:5172"	"HR"	"MONDO:0008847"	"atrichia with papular lesions"	"OMIM:209500"	"Atrichia with papular lesions"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5172"	"HR"	"OMIM:209500"	"Atrichia with papular lesions"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-05-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61063"	"2023-08-19"
"GENCC_000101-HGNC_5959-OMIM_155255-HP_0000006-GENCC_100004"	"HGNC:5959"	"ELP1"	"MONDO:0007959"	"medulloblastoma"	"OMIM:155255"	"{Medulloblastoma}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5959"	"IKBKAP"	"OMIM:155255"	"Medulloblastoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13444"	"2023-08-19"
"GENCC_000101-HGNC_13176-OMIM_616873-HP_0000006-GENCC_100002"	"HGNC:13176"	"IKZF1"	"MONDO:0014810"	"pancytopenia due to IKZF1 mutations"	"OMIM:616873"	"Immunodeficiency, common variable, 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13176"	"IKZF1"	"OMIM:616873"	"Immunodeficiency, common variable, 13"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-11-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18872"	"2023-08-19"
"GENCC_000101-HGNC_13178-OMIM_619437-HP_0000006-GENCC_100004"	"HGNC:13178"	"IKZF3"	"MONDO:0030333"	"immunodeficiency 84"	"OMIM:619437"	"?Immunodeficiency 84"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13178"	"IKZF3"	"OMIM:619437"	"Immunodeficiency 84"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13508"	"2023-08-19"
"GENCC_000101-HGNC_21474-OMIM_610156-HP_0000007-GENCC_100003"	"HGNC:21474"	"INPP5E"	"MONDO:0012423"	"MORM syndrome"	"OMIM:610156"	"Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21474"	"INPP5E"	"OMIM:610156"	"Mental retardation, truncal obesity, retinal dystrophy, and micropenis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61022"	"2023-08-19"
"GENCC_000101-HGNC_6174-OMIM_616079-HP_0000006-GENCC_100004"	"HGNC:6174"	"ITM2B"	"MONDO:0014483"	"retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"	"OMIM:616079"	"?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6174"	"ITM2B"	"OMIM:616079"	"Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"67036"	"2023-08-19"
"GENCC_000101-HGNC_6180-OMIM_206700-HP_0000007-GENCC_100003"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"OMIM:206700"	"Gillespie syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6180"	"ITPR1"	"OMIM:206700"	"Gillespie syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-03-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18202"	"2023-08-19"
"GENCC_000101-HGNC_6180-OMIM_206700-HP_0000006-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"OMIM:206700"	"Gillespie syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6180"	"ITPR1"	"OMIM:206700"	"Gillespie syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-03-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13193"	"2023-08-19"
"GENCC_000101-HGNC_6182-OMIM_620111-HP_0000006-GENCC_100004"	"HGNC:6182"	"ITPR3"	"MONDO:0859311"	"Charcot-Marie-Tooth disease, demyelinating, type 1J"	"OMIM:620111"	"Charcot-Marie-Tooth disease, demyelinating, type 1J"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6182"	"ITPR3"	"OMIM:620111"	"Charcot-Marie-Tooth disease, demyelinating, type 1J"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13309"	"2023-08-19"
"GENCC_000101-HGNC_6188-OMIM_619574-HP_0000006-GENCC_100004"	"HGNC:6188"	"JAG1"	"MONDO:0030458"	"Charcot-Marie-Tooth disease, axonal, Type 2HH"	"OMIM:619574"	"Charcot-Marie-Tooth disease, axonal, type 2HH"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6188"	"JAG1"	"OMIM:619574"	"Charcot-Marie-Tooth disease, axonal, type 2HH"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42266"	"2023-08-19"
"GENCC_000101-HGNC_6190-OMIM_618999-HP_0000006-GENCC_100003"	"HGNC:6190"	"JAK1"	"MONDO:0033558"	"autoinflammation, immune dysregulation, and eosinophilia"	"OMIM:618999"	"Autoinflammation, immune dysregulation, and eosinophilia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6190"	"JAK1"	"OMIM:618999"	"Autoinflammation, immune dysregulation, and eosinophilia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"71064"	"2023-08-19"
"GENCC_000101-HGNC_6234-OMIM_619913-HP_0000006-GENCC_100002"	"HGNC:6234"	"KCNC2"	"MONDO:0030957"	"developmental and epileptic encephalopathy 103"	"OMIM:619913"	"Developmental and epileptic encephalopathy 103"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6234"	"KCNC2"	"OMIM:619913"	"Developmental and epileptic encephalopathy 103"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-03-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13198"	"2023-08-19"
"GENCC_000101-HGNC_6239-OMIM_607346-HP_0000006-GENCC_100002"	"HGNC:6239"	"KCND3"	"MONDO:0011819"	"spinocerebellar ataxia type 19/22"	"OMIM:607346"	"Spinocerebellar ataxia 19"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6239"	"KCND3"	"OMIM:607346"	"Spinocerebellar ataxia 19"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-12-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"74503"	"2023-08-19"
"GENCC_000101-HGNC_6262-OMIM_619406-HP_0000007-GENCC_100003"	"HGNC:6262"	"KCNJ16"	"MONDO:0859167"	"hypokalemic tubulopathy and deafness"	"OMIM:619406"	"Hypokalemic tubulopathy and deafness"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6262"	"KCNJ16"	"OMIM:619406"	"Hypokalemic tubulopathy and deafness"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15122"	"2023-08-19"
"GENCC_000101-HGNC_18867-OMIM_620196-HP_0000007-GENCC_100004"	"HGNC:18867"	"KCNU1"	"MONDO:0859352"	"spermatogenic failure 79"	"OMIM:620196"	"Spermatogenic failure 79"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18867"	"KCNU1"	"OMIM:620196"	"Spermatogenic failure 79"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13379"	"2023-08-19"
"GENCC_000101-HGNC_26624-OMIM_617337-HP_0000006-GENCC_100003"	"HGNC:26624"	"KDF1"	"MONDO:0015024"	"ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"	"OMIM:617337"	"?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26624"	"KDF1"	"OMIM:617337"	"Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17711"	"2023-08-19"
"GENCC_000101-HGNC_18039-OMIM_618109-HP_0000006-GENCC_100004"	"HGNC:18039"	"KDM5B"	"MONDO:0020850"	"intellectual disability, autosomal recessive 65"	"OMIM:618109"	"Intellectual developmental disorder, autosomal recessive 65"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18039"	"KDM5B"	"OMIM:618109"	"Intellectual developmental disorder, autosomal recessive 65"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14970"	"2023-08-19"
"GENCC_000101-HGNC_19958-OMIM_619737-HP_0000007-GENCC_100003"	"HGNC:19958"	"PRORP"	"MONDO:0030543"	"combined oxidative phosphorylation deficiency 54"	"OMIM:619737"	"Combined oxidative phosphorylation deficiency 54"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19958"	"KIAA0391"	"OMIM:619737"	"Combined oxidative phosphorylation deficiency 54"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-13 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13686"	"2025-01-17"
"GENCC_000101-HGNC_33914-OMIM_620238-HP_0000007-GENCC_100004"	"HGNC:33914"	"MINAR2"	"MONDO:0859374"	"hearing loss, autosomal recessive 120"	"OMIM:620238"	"Deafness, autosomal recessive 120"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:33914"	"KIAA1024L"	"OMIM:620238"	"Deafness, autosomal recessive 120"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13341"	"2023-08-19"
"GENCC_000101-HGNC_29174-OMIM_615817-HP_0000007-GENCC_100004"	"HGNC:29174"	"WASHC4"	"MONDO:0014354"	"intellectual disability, autosomal recessive 43"	"OMIM:615817"	"Intellectual developmental disorder, autosomal recessive 43"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29174"	"KIAA1033"	"OMIM:615817"	"Intellectual developmental disorder, autosomal recessive 43"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"9464"	"2023-08-19"
"GENCC_000101-HGNC_6392-OMIM_105600-HP_0000006-GENCC_100004"	"HGNC:6392"	"KIF23"	"MONDO:0007109"	"congenital dyserythropoietic anemia type 3"	"OMIM:105600"	"Anemia, congenital dyserythropoietic, type IIIA"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6392"	"KIF23"	"OMIM:105600"	"Anemia, congenital dyserythropoietic, type IIIA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-08-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"81714"	"2023-08-19"
"GENCC_000101-HGNC_20226-OMIM_620156-HP_0000007-GENCC_100004"	"HGNC:20226"	"KIF26A"	"MONDO:0859332"	"cortical dysplasia, complex, with other brain malformations 11"	"OMIM:620156"	"Cortical dysplasia, complex, with other brain malformations 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20226"	"KIF26A"	"OMIM:620156"	"Cortical dysplasia, complex, with other brain malformations 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13378"	"2023-08-19"
"GENCC_000101-HGNC_6341-OMIM_614842-HP_0000007-GENCC_100004"	"HGNC:6341"	"KISS1"	"MONDO:0013915"	"hypogonadotropic hypogonadism 13 with or without anosmia"	"OMIM:614842"	"?Hypogonadotropic hypogonadism 13 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6341"	"KISS1"	"OMIM:614842"	"Hypogonadotropic hypogonadism 13 with or without anosmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"9476"	"2023-08-19"
"GENCC_000101-HGNC_6345-OMIM_613673-HP_0000006-GENCC_100003"	"HGNC:6345"	"KLF1"	"MONDO:0013355"	"congenital dyserythropoietic anemia type 4"	"OMIM:613673"	"Anemia, dyserythropoietic congenital, type IVa"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6345"	"KLF1"	"OMIM:613673"	"Dyserythropoietic anemia, congenital, type IV"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-07-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"76245"	"2023-08-19"
"GENCC_000101-HGNC_16905-OMIM_615731-HP_0000007-GENCC_100003"	"HGNC:16905"	"KLHL41"	"MONDO:0014326"	"nemaline myopathy 9"	"OMIM:615731"	"Nemaline myopathy 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16905"	"KLHL41"	"OMIM:615731"	"Nemaline myopathy 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-08-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13442"	"2023-08-19"
"GENCC_000101-HGNC_6415-OMIM_615785-HP_0000006-GENCC_100003"	"HGNC:6415"	"KRT13"	"MONDO:0014346"	"white sponge nevus 2"	"OMIM:615785"	"White sponge nevus 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6415"	"KRT13"	"OMIM:615785"	"White sponge nevus 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42292"	"2023-08-19"
"GENCC_000101-HGNC_26576-OMIM_617114-HP_0000007-GENCC_100003"	"HGNC:26576"	"KY"	"MONDO:0014922"	"myofibrillar myopathy 7"	"OMIM:617114"	"Myopathy, myofibrillar, 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26576"	"KY"	"OMIM:617114"	"Myopathy, myofibrillar, 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-04-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18994"	"2023-08-19"
"GENCC_000101-HGNC_26058-OMIM_301006-HP_0001417-GENCC_100004"	"HGNC:26058"	"LAGE3"	"MONDO:0033006"	"Galloway-Mowat syndrome 2, X-linked"	"OMIM:301006"	"Galloway-Mowat syndrome 2, X-linked"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26058"	"LAGE3"	"OMIM:301006"	"Galloway-Mowat syndrome 2, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11874"	"2023-08-19"
"GENCC_000101-HGNC_6485-OMIM_620049-HP_0000007-GENCC_100003"	"HGNC:6485"	"LAMA5"	"MONDO:0031061"	"nephrotic syndrome, IIa 26"	"OMIM:620049"	"Nephrotic syndrome, type 26"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6485"	"LAMA5"	"OMIM:620049"	"Nephrotic syndrome, type 26"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11724"	"2023-08-19"
"GENCC_000101-HGNC_29796-OMIM_610798-HP_0000007-GENCC_100004"	"HGNC:29796"	"LAMTOR2"	"MONDO:0012559"	"primary immunodeficiency syndrome due to p14 deficiency"	"OMIM:610798"	"Immunodeficiency due to defect in MAPBP-interacting protein"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29796"	"LAMTOR2"	"OMIM:610798"	"Immunodeficiency due to defect in MAPBP-interacting protein"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61485"	"2023-08-19"
"GENCC_000101-HGNC_6522-MONDO_0018999-HP_0000007-GENCC_100001"	"HGNC:6522"	"LCAT"	"MONDO:0018999"	"LCAT deficiency"	"MONDO:0018999"	"LCAT deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6522"	"LCAT"	"MONDO:0018999"	"LCAT deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2017-07-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"9553"	"2023-08-19"
"GENCC_000101-HGNC_6529-OMIM_619374-HP_0000007-GENCC_100004"	"HGNC:6529"	"LCP2"	"MONDO:0030302"	"immunodeficiency 81"	"OMIM:619374"	"Immunodeficiency 81"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6529"	"LCP2"	"OMIM:619374"	"Immunodeficiency 81"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42246"	"2023-08-19"
"GENCC_000101-HGNC_6556-OMIM_620089-HP_0000007-GENCC_100003"	"HGNC:6556"	"LETM1"	"MONDO:0859304"	"neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction"	"OMIM:620089"	"Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6556"	"LETM1"	"OMIM:620089"	"Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13447"	"2023-08-19"
"GENCC_000101-HGNC_18711-OMIM_620007-HP_0000007-GENCC_100004"	"HGNC:18711"	"LGI3"	"MONDO:0859277"	"intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects"	"OMIM:620007"	"Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18711"	"LGI3"	"OMIM:620007"	"Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13596"	"2023-08-19"
"GENCC_000101-HGNC_6610-OMIM_615277-HP_0000007-GENCC_100004"	"HGNC:6610"	"LIM2"	"MONDO:0014111"	"cataract 19 multiple types"	"OMIM:615277"	"Cataract 19, multiple types"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6610"	"LIM2"	"OMIM:615277"	"Cataract 19, multiple types"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"12392"	"2023-08-19"
"GENCC_000101-HGNC_6619-OMIM_614025-HP_0000007-GENCC_100004"	"HGNC:6619"	"LIPC"	"MONDO:0013533"	"hyperlipidemia due to hepatic triglyceride lipase deficiency"	"OMIM:614025"	"Hepatic lipase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6619"	"LIPC"	"OMIM:614025"	"Hepatic lipase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"63277"	"2023-08-19"
"GENCC_000101-HGNC_25287-OMIM_619694-HP_0000006-GENCC_100003"	"HGNC:25287"	"LMBRD2"	"MONDO:0859218"	"developmental delay with variable neurologic and brain abnormalities"	"OMIM:619694"	"Developmental delay with variable neurologic and brain abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25287"	"LMBRD2"	"OMIM:619694"	"Developmental delay with variable neurologic and brain abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14775"	"2023-08-19"
"GENCC_000101-HGNC_6648-OMIM_619897-HP_0000007-GENCC_100002"	"HGNC:6648"	"LMOD2"	"MONDO:0030887"	"cardiomyopathy, dilated, 2G"	"OMIM:619897"	"Cardiomyopathy, dilated, 2G"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6648"	"LMOD2"	"OMIM:619897"	"Cardiomyopathy, dilated, 2G"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-13 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11386"	"2025-01-17"
"GENCC_000101-HGNC_13869-OMIM_619781-HP_0000007-GENCC_100004"	"HGNC:13869"	"LOXL3"	"MONDO:0030697"	"myopia 28, autosomal recessive"	"OMIM:619781"	"Myopia 28, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13869"	"LOXL3"	"OMIM:619781"	"Myopia 28, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"12308"	"2023-08-19"
"GENCC_000101-HGNC_31708-OMIM_164310-HP_0000006-GENCC_100002"	"HGNC:31708"	"LRP12"	"MONDO:0020793"	"oculopharyngodistal myopathy 1"	"OMIM:164310"	"Oculopharyngodistal myopathy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31708"	"LRP12"	"OMIM:164310"	"Oculopharyngodistal myopathy 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-05-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42218"	"2023-08-19"
"GENCC_000101-HGNC_25430-OMIM_618254-HP_0000007-GENCC_100004"	"HGNC:25430"	"LRRC56"	"MONDO:0032637"	"ciliary dyskinesia, primary, 39"	"OMIM:618254"	"Ciliary dyskinesia, primary, 39"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25430"	"LRRC56"	"OMIM:618254"	"Ciliary dyskinesia, primary, 39"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13575"	"2023-08-19"
"GENCC_000101-HGNC_6714-OMIM_619451-HP_0000007-GENCC_100004"	"HGNC:6714"	"LTBP1"	"MONDO:0030337"	"cutis laxa, autosomal recessive, type 2E"	"OMIM:619451"	"Cutis laxa, autosomal recessive, type IIE"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6714"	"LTBP1"	"OMIM:619451"	"Cutis laxa, autosomal recessive, type IIE"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13941"	"2023-08-19"
"GENCC_000101-HGNC_21173-OMIM_620199-HP_0000007-GENCC_100004"	"HGNC:21173"	"LTV1"	"MONDO:0859355"	"inflammatory poikiloderma with hair abnormalities and acral keratoses"	"OMIM:620199"	"Inflammatory poikiloderma with hair abnormalities and acral keratoses"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21173"	"LTV1"	"OMIM:620199"	"Inflammatory poikiloderma with hair abnormalities and acral keratoses"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13538"	"2023-08-19"
"GENCC_000101-HGNC_21365-OMIM_615595-HP_0000007-GENCC_100004"	"HGNC:21365"	"LYRM4"	"MONDO:0014269"	"combined oxidative phosphorylation deficiency 19"	"OMIM:615595"	"?Combined oxidative phosphorylation deficiency 19"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21365"	"LYRM4"	"OMIM:615595"	"Combined oxidative phosphorylation deficiency 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-08-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15485"	"2023-08-19"
"GENCC_000101-HGNC_6740-OMIM_105200-HP_0000006-GENCC_100003"	"HGNC:6740"	"LYZ"	"MONDO:0007099"	"familial visceral amyloidosis"	"OMIM:105200"	"Amyloidosis, hereditary systemic 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6740"	"LYZ"	"OMIM:105200"	"Amyloidosis, renal"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"259"	"2023-08-19"
"GENCC_000101-HGNC_6762-OMIM_620189-HP_0000007-GENCC_100004"	"HGNC:6762"	"MAD1L1"	"MONDO:0859346"	"mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition"	"OMIM:620189"	"Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6762"	"MAD1L1"	"OMIM:620189"	"Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13340"	"2023-08-19"
"GENCC_000101-HGNC_6764-OMIM_617243-HP_0000007-GENCC_100004"	"HGNC:6764"	"MAD2L2"	"MONDO:0014985"	"Fanconi anemia complementation group V"	"OMIM:617243"	"?Fanconi anemia, complementation group V"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6764"	"MAD2L2"	"OMIM:617243"	"Fanconi anemia, complementation group V"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14810"	"2023-08-19"
"GENCC_000101-HGNC_6827-OMIM_619775-HP_0000007-GENCC_100004"	"HGNC:6827"	"MAN2C1"	"MONDO:0030770"	"congenital disorder of deglycosylation 2"	"OMIM:619775"	"Congenital disorder of deglycosylation 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6827"	"MAN2C1"	"OMIM:619775"	"Congenital disorder of deglycosylation 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13175"	"2023-08-19"
"GENCC_000101-HGNC_6889-OMIM_619869-HP_0000007-GENCC_100004"	"HGNC:6889"	"MAPKAPK5"	"MONDO:0859247"	"neurocardiofaciodigital syndrome"	"OMIM:619869"	"Neurocardiofaciodigital syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6889"	"MAPKAPK5"	"OMIM:619869"	"Neurocardiofaciodigital syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15609"	"2023-08-19"
"GENCC_000101-HGNC_6919-OMIM_619975-HP_0000007-GENCC_100003"	"HGNC:6919"	"MBD4"	"MONDO:0859267"	"tumor predisposition syndrome 2"	"OMIM:619975"	"Tumor predisposition syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6919"	"MBD4"	"OMIM:619975"	"Tumor predisposition syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-03-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13456"	"2023-08-19"
"GENCC_000101-HGNC_15455-OMIM_308800-HP_0001417-GENCC_100004"	"HGNC:15455"	"MBTPS2"	"MONDO:0010637"	"keratosis follicularis spinulosa decalvans, X-linked"	"OMIM:308800"	"Keratosis follicularis spinulosa decalvans, X-linked"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15455"	"MBTPS2"	"OMIM:308800"	"Keratosis follicularis spinulosa decalvans, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61753"	"2023-08-19"
"GENCC_000101-HGNC_15455-OMIM_308205-HP_0001417-GENCC_100002"	"HGNC:15455"	"MBTPS2"	"MONDO:0100213"	"IFAP syndrome 1, with or without BRESHECK syndrome"	"OMIM:308205"	"IFAP syndrome with or without BRESHECK syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15455"	"MBTPS2"	"OMIM:308205"	"IFAP syndrome with or without BRESHECK syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-12-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61736"	"2023-08-19"
"GENCC_000101-HGNC_15455-OMIM_300918-HP_0001417-GENCC_100004"	"HGNC:15455"	"MBTPS2"	"MONDO:0010486"	"Olmsted syndrome, X-linked"	"OMIM:300918"	"?Olmsted syndrome, X-linked"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15455"	"MBTPS2"	"OMIM:300918"	"Olmsted syndrome, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"74592"	"2023-08-19"
"GENCC_000101-HGNC_15455-OMIM_301014-HP_0001417-GENCC_100004"	"HGNC:15455"	"MBTPS2"	"MONDO:0049223"	"osteogenesis imperfecta, type 19"	"OMIM:301014"	"Osteogenesis imperfecta, type XIX"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15455"	"MBTPS2"	"OMIM:301014"	"Osteogenesis imperfecta, type XIX"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13907"	"2023-08-19"
"GENCC_000101-HGNC_6944-OMIM_616968-HP_0000006-GENCC_100004"	"HGNC:6944"	"MCM2"	"MONDO:0014853"	"autosomal dominant nonsyndromic hearing loss 70"	"OMIM:616968"	"?Deafness, autosomal dominant 70"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6944"	"MCM2"	"OMIM:616968"	"Deafness, autosomal dominant 70"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"71785"	"2023-08-19"
"GENCC_000101-HGNC_28870-OMIM_620014-HP_0000007-GENCC_100003"	"HGNC:28870"	"MDFIC"	"MONDO:0031043"	"lymphatic malformation 12"	"OMIM:620014"	"Lymphatic malformation 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28870"	"MDFIC"	"OMIM:620014"	"Lymphatic malformation 12"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13454"	"2023-08-19"
"GENCC_000101-HGNC_7010-OMIM_131100-HP_0000006-GENCC_100004"	"HGNC:7010"	"MEN1"	"MONDO:0007540"	"multiple endocrine neoplasia type 1"	"OMIM:131100"	"Multiple endocrine neoplasia 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7010"	"MEN1"	"OMIM:131100"	"Multiple endocrine neoplasia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-08-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13403"	"2023-08-19"
"GENCC_000101-HGNC_7029-OMIM_616705-HP_0000007-GENCC_100004"	"HGNC:7029"	"MET"	"MONDO:0014739"	"autosomal recessive nonsyndromic hearing loss 97"	"OMIM:616705"	"?Deafness, autosomal recessive 97"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7029"	"MET"	"OMIM:616705"	"Deafness, autosomal recessive 97"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42296"	"2023-08-19"
"GENCC_000101-HGNC_7029-OMIM_620019-HP_0000006-GENCC_100004"	"HGNC:7029"	"MET"	"MONDO:0031045"	"arthrogryposis, distal, IIa 11"	"OMIM:620019"	"?Arthrogryposis, distal, type 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7029"	"MET"	"OMIM:620019"	"Arthrogryposis, distal, type 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42290"	"2023-08-19"
"GENCC_000101-HGNC_7105-OMIM_614456-HP_0000006-GENCC_100003"	"HGNC:7105"	"MITF"	"MONDO:0013759"	"melanoma, cutaneous malignant, susceptibility to, 8"	"OMIM:614456"	"{Melanoma, cutaneous malignant, susceptibility to, 8}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7105"	"MITF"	"OMIM:614456"	"Melanoma, cutaneous malignant, susceptibility to, 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"84576"	"2023-08-19"
"GENCC_000101-HGNC_7128-OMIM_614385-HP_0000007-GENCC_100004"	"HGNC:7128"	"MLH3"	"MONDO:0013725"	"colorectal cancer, hereditary nonpolyposis, type 7"	"OMIM:614385"	"Colorectal cancer, hereditary nonpolyposis, type 7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7128"	"MLH3"	"OMIM:614385"	"Colorectal cancer, hereditary nonpolyposis, type 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-08-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78392"	"2023-08-19"
"GENCC_000101-HGNC_21355-OMIM_620138-HP_0000007-GENCC_100002"	"HGNC:21355"	"MLIP"	"MONDO:0859322"	"myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis"	"OMIM:620138"	"Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21355"	"MLIP"	"OMIM:620138"	"Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-12-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13024"	"2023-08-19"
"GENCC_000101-HGNC_7154-OMIM_617017-HP_0032113-GENCC_100001"	"HGNC:7154"	"MME"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"OMIM:617017"	"Charcot-Marie-Tooth disease, axonal, type 2T"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7154"	"MME"	"OMIM:617017"	"Charcot-Marie-Tooth disease, axonal, type 2T"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-11-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"12372"	"2023-08-19"
"GENCC_000101-HGNC_7217-OMIM_604498-HP_0000007-GENCC_100001"	"HGNC:7217"	"MPL"	"MONDO:0011469"	"congenital amegakaryocytic thrombocytopenia"	"OMIM:604498"	"Amegakaryocytic thrombocytopenia, congenital, 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7217"	"MPL"	"OMIM:604498"	"Thrombocytopenia, congenital amegakaryocytic"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65543"	"2023-08-19"
"GENCC_000101-HGNC_16352-OMIM_618567-HP_0000007-GENCC_100004"	"HGNC:16352"	"MRM2"	"MONDO:0032815"	"mitochondrial DNA depletion syndrome 17"	"OMIM:618567"	"Mitochondrial DNA depletion syndrome 17"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16352"	"MRM2"	"OMIM:618567"	"Mitochondrial DNA depletion syndrome 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11689"	"2023-08-19"
"GENCC_000101-HGNC_7127-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:7127"	"MLH1"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7127"	"MLH1"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13488"	"2023-08-19"
"GENCC_000101-HGNC_7127-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:7127"	"MLH1"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7127"	"MLH1"	"MONDO:0008315"	"Prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13427"	"2023-08-19"
"GENCC_000101-HGNC_7325-MONDO_0008315-HP_0000006-GENCC_100003"	"HGNC:7325"	"MSH2"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7325"	"MSH2"	"MONDO:0008315"	"Prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-07-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"85886"	"2023-08-19"
"GENCC_000101-HGNC_7325-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:7325"	"MSH2"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7325"	"MSH2"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13486"	"2023-08-19"
"GENCC_000101-HGNC_7326-OMIM_617100-HP_0000007-GENCC_100001"	"HGNC:7326"	"MSH3"	"MONDO:0044300"	"familial adenomatous polyposis 4"	"OMIM:617100"	"Familial adenomatous polyposis 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7326"	"MSH3"	"OMIM:617100"	"Familial adenomatous polyposis 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-05 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17311"	"2025-01-17"
"GENCC_000101-HGNC_7327-OMIM_619938-HP_0000007-GENCC_100002"	"HGNC:7327"	"MSH4"	"MONDO:0030975"	"premature ovarian failure 20"	"OMIM:619938"	"Premature ovarian failure 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7327"	"MSH4"	"OMIM:619938"	"Premature ovarian failure 20"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-05-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17356"	"2023-08-19"
"GENCC_000101-HGNC_7329-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:7329"	"MSH6"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7329"	"MSH6"	"MONDO:0008315"	"Prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13423"	"2023-08-19"
"GENCC_000101-HGNC_7329-MONDO_0007254-HP_0000006-GENCC_100004"	"HGNC:7329"	"MSH6"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7329"	"MSH6"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13482"	"2023-08-19"
"GENCC_000101-HGNC_7373-OMIM_300988-HP_0001417-GENCC_100003"	"HGNC:7373"	"MSN"	"MONDO:0010514"	"combined immunodeficiency due to moesin deficiency"	"OMIM:300988"	"Immunodeficiency 50"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7373"	"MSN"	"OMIM:300988"	"Immunodeficiency 50"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-08-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13416"	"2023-08-19"
"GENCC_000101-HGNC_7392-OMIM_604757-HP_0000006-GENCC_100003"	"HGNC:7392"	"MSX2"	"MONDO:0011481"	"craniosynostosis 2"	"OMIM:604757"	"Craniosynostosis 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7392"	"MSX2"	"OMIM:604757"	"Craniosynostosis 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-07-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"25"	"2023-08-19"
"GENCC_000101-HGNC_7392-OMIM_168500-HP_0000006-GENCC_100003"	"HGNC:7392"	"MSX2"	"MONDO:0008197"	"parietal foramina 1"	"OMIM:168500"	"Parietal foramina 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7392"	"MSX2"	"OMIM:168500"	"Parietal foramina 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-07-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65500"	"2023-08-19"
"GENCC_000101-HGNC_25094-OMIM_620086-HP_0000006-GENCC_100003"	"HGNC:25094"	"MTSS2"	"MONDO:0859303"	"intellectual developmental disorder with ocular anomalies and distinctive facial features"	"OMIM:620086"	"Intellectual developmental disorder with ocular anomalies and distinctive facial features"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25094"	"MTSS1L"	"OMIM:620086"	"Intellectual developmental disorder with ocular anomalies and distinctive facial features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-20 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13563"	"2025-01-17"
"GENCC_000101-HGNC_7467-OMIM_200100-HP_0000007-GENCC_100001"	"HGNC:7467"	"MTTP"	"MONDO:0008692"	"abetalipoproteinemia"	"OMIM:200100"	"Abetalipoproteinemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7467"	"MTTP"	"OMIM:200100"	"Abetalipoproteinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-10-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65598"	"2023-08-19"
"GENCC_000101-HGNC_7583-OMIM_619424-HP_0000007-GENCC_100003"	"HGNC:7583"	"MYL2"	"MONDO:0859168"	"myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy"	"OMIM:619424"	"Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7583"	"MYL2"	"OMIM:619424"	"Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13441"	"2023-08-19"
"GENCC_000101-HGNC_7606-OMIM_600060-HP_0000007-GENCC_100003"	"HGNC:7606"	"MYO7A"	"MONDO:0010807"	"autosomal recessive nonsyndromic hearing loss 2"	"OMIM:600060"	"Deafness, autosomal recessive 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7606"	"MYO7A"	"OMIM:600060"	"Deafness, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-07-26 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"16875"	"2023-08-19"
"GENCC_000101-HGNC_15908-OMIM_619717-HP_0000007-GENCC_100004"	"HGNC:15908"	"NAA20"	"MONDO:0030533"	"intellectual developmental disorder, autosomal recessive 73"	"OMIM:619717"	"Intellectual developmental disorder, autosomal recessive 73"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15908"	"NAA20"	"OMIM:619717"	"Intellectual developmental disorder, autosomal recessive 73"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42230"	"2023-08-19"
"GENCC_000101-HGNC_7652-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:7652"	"NBN"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7652"	"NBN"	"MONDO:0008315"	"Prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-18 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"85754"	"2025-01-17"
"GENCC_000101-HGNC_7680-OMIM_616116-HP_0000007-GENCC_100003"	"HGNC:7680"	"NDST1"	"MONDO:0014499"	"intellectual disability, autosomal recessive 46"	"OMIM:616116"	"Intellectual developmental disorder, autosomal recessive 46"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7680"	"NDST1"	"OMIM:616116"	"Intellectual developmental disorder, autosomal recessive 46"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-11-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78196"	"2023-08-19"
"GENCC_000101-HGNC_18828-OMIM_618234-HP_0000007-GENCC_100004"	"HGNC:18828"	"NDUFAF1"	"MONDO:0032617"	"mitochondrial complex 1 deficiency, nuclear type 11"	"OMIM:618234"	"Mitochondrial complex I deficiency, nuclear type 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18828"	"NDUFAF1"	"OMIM:618234"	"Mitochondrial complex I deficiency, nuclear type 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"162"	"2023-08-19"
"GENCC_000101-HGNC_7720-OMIM_256030-HP_0000006-GENCC_100004"	"HGNC:7720"	"NEB"	"MONDO:0009725"	"nemaline myopathy 2"	"OMIM:256030"	"Nemaline myopathy 2, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7720"	"NEB"	"OMIM:256030"	"Nemaline myopathy 2, autosomal recessive"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13315"	"2023-08-19"
"GENCC_000101-HGNC_18591-OMIM_617022-HP_0000007-GENCC_100003"	"HGNC:18591"	"NEK9"	"MONDO:0014870"	"NEK9-related lethal skeletal dysplasia"	"OMIM:617022"	"Lethal congenital contracture syndrome 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18591"	"NEK9"	"OMIM:617022"	"Lethal congenital contracture syndrome 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"12590"	"2023-08-19"
"GENCC_000101-HGNC_15910-OMIM_619386-HP_0000007-GENCC_100004"	"HGNC:15910"	"NFS1"	"MONDO:0030311"	"combined oxidative phosphorylation deficiency 52"	"OMIM:619386"	"Combined oxidative phosphorylation deficiency 52"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15910"	"NFS1"	"OMIM:619386"	"Combined oxidative phosphorylation deficiency 52"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"85455"	"2023-08-19"
"GENCC_000101-HGNC_7853-OMIM_620032-HP_0000007-GENCC_100004"	"HGNC:7853"	"NME5"	"MONDO:0031054"	"ciliary dyskinesia, primary, 48, without situs inversus"	"OMIM:620032"	"Ciliary dyskinesia, primary, 48, without situs inversus"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7853"	"NME5"	"OMIM:620032"	"Ciliary dyskinesia, primary, 48, without situs inversus"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14272"	"2023-08-19"
"GENCC_000101-HGNC_7952-OMIM_620158-HP_0000006-GENCC_100003"	"HGNC:7952"	"NPTX1"	"MONDO:0859334"	"spinocerebellar ataxia 50"	"OMIM:620158"	"Spinocerebellar ataxia 50"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7952"	"NPTX1"	"OMIM:620158"	"Spinocerebellar ataxia 50"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13909"	"2023-08-19"
"GENCC_000101-HGNC_7994-OMIM_619833-HP_0000007-GENCC_100003"	"HGNC:7994"	"NRCAM"	"MONDO:0859236"	"neurodevelopmental disorder with neuromuscular and skeletal abnormalities"	"OMIM:619833"	"Neurodevelopmental disorder with neuromuscular and skeletal abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7994"	"NRCAM"	"OMIM:619833"	"Neurodevelopmental disorder with neuromuscular and skeletal abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-10-19 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13525"	"2023-08-19"
"GENCC_000101-HGNC_7997-OMIM_603013-HP_0000007-GENCC_100004"	"HGNC:7997"	"NRG1"	"MONDO:0011280"	"schizophrenia 6"	"OMIM:603013"	"{?Schizophrenia, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7997"	"NRG1"	"OMIM:603013"	"Schizophrenia, susceptibility to"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13114"	"2023-08-19"
"GENCC_000101-HGNC_18017-OMIM_618178-HP_0000007-GENCC_100004"	"HGNC:18017"	"NUP160"	"MONDO:0032582"	"nephrotic syndrome, type 19"	"OMIM:618178"	"?Nephrotic syndrome, type 19"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18017"	"NUP160"	"OMIM:618178"	"Nephrotic syndrome, type 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13540"	"2023-08-19"
"GENCC_000101-HGNC_18658-OMIM_616893-HP_0000007-GENCC_100004"	"HGNC:18658"	"NUP205"	"MONDO:0014818"	"nephrotic syndrome, type 13"	"OMIM:616893"	"?Nephrotic syndrome, type 13"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18658"	"NUP205"	"OMIM:616893"	"Nephrotic syndrome, type 13"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-15 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73706"	"2025-01-17"
"GENCC_000101-HGNC_8734-OMIM_618176-HP_0000007-GENCC_100003"	"HGNC:8734"	"NUP85"	"MONDO:0032580"	"nephrotic syndrome, type 17"	"OMIM:618176"	"Nephrotic syndrome, type 17"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8734"	"NUP85"	"OMIM:618176"	"Nephrotic syndrome, type 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-12-10 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13637"	"2025-01-17"
"GENCC_000101-HGNC_26200-OMIM_617341-HP_0000007-GENCC_100003"	"HGNC:26200"	"STN1"	"MONDO:0015026"	"cerebroretinal microangiopathy with calcifications and cysts 2"	"OMIM:617341"	"Cerebroretinal microangiopathy with calcifications and cysts 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26200"	"OBFC1"	"OMIM:617341"	"Cerebroretinal microangiopathy with calcifications and cysts 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13077"	"2023-08-19"
"GENCC_000101-HGNC_29092-OMIM_612921-HP_0000007-GENCC_100002"	"HGNC:29092"	"OBSL1"	"MONDO:0013039"	"3M syndrome 2"	"OMIM:612921"	"3-M syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29092"	"OBSL1"	"OMIM:612921"	"3-M syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-03-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"328"	"2023-08-19"
"GENCC_000101-HGNC_8124-OMIM_203740-HP_0000007-GENCC_100004"	"HGNC:8124"	"OGDH"	"MONDO:0008759"	"oxoglutaricaciduria"	"OMIM:203740"	"Oxoglutarate dehydrogenase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8124"	"OGDH"	"OMIM:203740"	"Oxoglutarate dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65107"	"2023-08-19"
"GENCC_000101-HGNC_25590-OMIM_619701-HP_0000007-GENCC_100003"	"HGNC:25590"	"OGDHL"	"MONDO:0859221"	"Yoon-Bellen neurodevelopmental syndrome"	"OMIM:619701"	"Yoon-Bellen neurodevelopmental syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25590"	"OGDHL"	"OMIM:619701"	"Yoon-Bellen neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-11-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13965"	"2023-08-19"
"GENCC_000101-HGNC_30032-OMIM_615009-HP_0000006-GENCC_100001"	"HGNC:30032"	"PACS1"	"MONDO:0014006"	"Schuurs-Hoeijmakers syndrome"	"OMIM:615009"	"Schuurs-Hoeijmakers syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30032"	"PACS1"	"OMIM:615009"	"Schuurs-Hoeijmakers syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-11-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"74373"	"2023-08-19"
"GENCC_000101-HGNC_20449-OMIM_617234-HP_0000007-GENCC_100002"	"HGNC:20449"	"PADI6"	"MONDO:0014978"	"preimplantation embryonic lethality 2"	"OMIM:617234"	"Oocyte/zygote/embryo maturation arrest 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20449"	"PADI6"	"OMIM:617234"	"Oocyte/zygote/embryo maturation arrest 16"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-05-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17013"	"2023-08-19"
"GENCC_000101-HGNC_14615-OMIM_619489-HP_0000007-GENCC_100003"	"HGNC:14615"	"PAPPA2"	"MONDO:0859182"	"Short stature, Dauber-Argente type"	"OMIM:619489"	"Short stature, Dauber-Argente type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14615"	"PAPPA2"	"OMIM:619489"	"Short stature, Dauber-Argente type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-02 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"19612"	"2023-08-19"
"GENCC_000101-HGNC_8615-OMIM_615560-HP_0000006-GENCC_100004"	"HGNC:8615"	"PAX1"	"MONDO:0014254"	"otofaciocervical syndrome 2"	"OMIM:615560"	"Otofaciocervical syndrome 2 with T-cell deficiency"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8615"	"PAX1"	"OMIM:615560"	"Otofaciocervical syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13354"	"2023-08-19"
"GENCC_000101-HGNC_8619-OMIM_615545-HP_0000006-GENCC_100003"	"HGNC:8619"	"PAX5"	"MONDO:0014241"	"leukemia, acute lymphoblastic, susceptibility to, 3"	"OMIM:615545"	"{Leukemia, acute lymphoblastic, susceptibility to, 3}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8619"	"PAX5"	"OMIM:615545"	"Leukemia, acute lymphoblastic, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-08 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"83553"	"2025-01-17"
"GENCC_000101-HGNC_8803-OMIM_175510-HP_0000006-GENCC_100003"	"HGNC:8803"	"PDGFRA"	"MONDO:0008285"	"polyps, multiple and recurrent inflammatory fibroid, gastrointestinal"	"OMIM:175510"	"Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8803"	"PDGFRA"	"OMIM:175510"	"Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-05 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"7869"	"2025-01-17"
"GENCC_000101-HGNC_26974-OMIM_620021-HP_0000007-GENCC_100004"	"HGNC:26974"	"PDZD8"	"MONDO:0859281"	"intellectual developmental disorder with autism and dysmorphic facies"	"OMIM:620021"	"Intellectual developmental disorder with autism and dysmorphic facies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26974"	"PDZD8"	"OMIM:620021"	"Intellectual developmental disorder with autism and dysmorphic facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13732"	"2023-08-19"
"GENCC_000101-HGNC_9713-OMIM_614886-HP_0000007-GENCC_100003"	"HGNC:9713"	"PEX19"	"MONDO:0013951"	"peroxisome biogenesis disorder 12A (Zellweger)"	"OMIM:614886"	"Peroxisome biogenesis disorder 12A (Zellweger)"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9713"	"PEX19"	"OMIM:614886"	"Peroxisome biogenesis disorder 12A (Zellweger)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-05-03 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"7873"	"2023-08-19"
"GENCC_000101-HGNC_9143-OMIM_209880-HP_0000006-GENCC_100001"	"HGNC:9143"	"PHOX2B"	"MONDO:0800026"	"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"OMIM:209880"	"Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9143"	"PHOX2B"	"OMIM:209880"	"Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-01-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"7621"	"2023-08-19"
"GENCC_000101-HGNC_9143-OMIM_613013-HP_0000006-GENCC_100002"	"HGNC:9143"	"PHOX2B"	"MONDO:0700041"	"neuroblastoma, susceptibility to, 2"	"OMIM:613013"	"Neuroblastoma with Hirschsprung disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9143"	"PHOX2B"	"OMIM:613013"	"Neuroblastoma, susceptibility to, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-01-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64657"	"2023-08-19"
"GENCC_000101-HGNC_9005-OMIM_180500-HP_0000006-GENCC_100001"	"HGNC:9005"	"PITX2"	"MONDO:0008386"	"Axenfeld-Rieger syndrome type 1"	"OMIM:180500"	"Axenfeld-Rieger syndrome, type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9005"	"PITX2"	"OMIM:180500"	"Axenfeld-Rieger syndrome, type 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-03-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65040"	"2023-08-19"
"GENCC_000101-HGNC_9045-OMIM_618907-HP_0000006-GENCC_100003"	"HGNC:9045"	"PLAG1"	"MONDO:0030118"	"silver-russell syndrome 4"	"OMIM:618907"	"Silver-Russell syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9045"	"PLAG1"	"OMIM:618907"	"Silver-Russell syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42236"	"2023-08-19"
"GENCC_000101-HGNC_9099-OMIM_619955-HP_0000007-GENCC_100004"	"HGNC:9099"	"PLXNA1"	"MONDO:0859260"	"Dworschak-Punetha neurodevelopmental syndrome"	"OMIM:619955"	"Dworschak-Punetha neurodevelopmental syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9099"	"PLXNA1"	"OMIM:619955"	"Dworschak-Punetha neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13629"	"2023-08-19"
"GENCC_000101-HGNC_9107-OMIM_620294-HP_0000007-GENCC_100004"	"HGNC:9107"	"PLXND1"	"MONDO:0859532"	"congenital heart defects, multiple types, 9"	"OMIM:620294"	"Congenital heart defects, multiple types, 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9107"	"PLXND1"	"OMIM:620294"	"Congenital heart defects, multiple types, 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"62952"	"2023-08-19"
"GENCC_000101-HGNC_9122-MONDO_0007254-HP_0000006-GENCC_100004"	"HGNC:9122"	"PMS2"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9122"	"PMS2"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13489"	"2023-08-19"
"GENCC_000101-HGNC_9122-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:9122"	"PMS2"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9122"	"PMS2"	"MONDO:0008315"	"Prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13480"	"2023-08-19"
"GENCC_000101-HGNC_23166-OMIM_608703-HP_0000006-GENCC_100004"	"HGNC:23166"	"PNPT1"	"MONDO:0012103"	"spinocerebellar ataxia type 25"	"OMIM:608703"	"Spinocerebellar ataxia 25"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23166"	"PNPT1"	"OMIM:608703"	"Spinocerebellar ataxia 25"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13116"	"2023-08-19"
"GENCC_000101-HGNC_9201-OMIM_601665-HP_0000006-GENCC_100004"	"HGNC:9201"	"POMC"	"MONDO:0019182"	"inherited obesity"	"OMIM:601665"	"{Obesity, late-onset}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9201"	"POMC"	"OMIM:601665"	"Obesity, early-onset, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"7953"	"2023-08-19"
"GENCC_000101-HGNC_17649-OMIM_618848-HP_0000007-GENCC_100004"	"HGNC:17649"	"POPDC3"	"MONDO:0030014"	"muscular dystrophy, limb-girdle, autosomal recessive 26"	"OMIM:618848"	"Muscular dystrophy, limb-girdle, autosomal recessive 26"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17649"	"POPDC3"	"OMIM:618848"	"Muscular dystrophy, limb-girdle, autosomal recessive 26"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13708"	"2023-08-19"
"GENCC_000101-HGNC_17284-OMIM_616568-HP_0000006-GENCC_100004"	"HGNC:17284"	"POT1"	"MONDO:0014695"	"glioma susceptibility 9"	"OMIM:616568"	"OMIM:616568"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17284"	"POT1"	"OMIM:616568"	"Glioma susceptibility 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"77457"	"2023-08-19"
"GENCC_000101-HGNC_17284-OMIM_615848-HP_0000006-GENCC_100003"	"HGNC:17284"	"POT1"	"MONDO:0014368"	"tumor predisposition syndrome 3"	"OMIM:615848"	"Tumor predisposition syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17284"	"POT1"	"OMIM:615848"	"Tumor predisposition syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-21 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42854"	"2024-01-02"
"GENCC_000101-HGNC_9249-OMIM_620024-HP_0000007-GENCC_100002"	"HGNC:9249"	"PPFIBP1"	"MONDO:0859283"	"neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"	"OMIM:620024"	"Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9249"	"PPFIBP1"	"OMIM:620024"	"Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-07-18 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13462"	"2023-08-19"
"GENCC_000101-HGNC_9260-OMIM_619301-HP_0000007-GENCC_100003"	"HGNC:9260"	"PPIL1"	"MONDO:0030258"	"pontocerebellar hypoplasia, type 14"	"OMIM:619301"	"Pontocerebellar hypoplasia, type 14"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9260"	"PPIL1"	"OMIM:619301"	"Pontocerebellar hypoplasia, type 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42217"	"2023-08-19"
"GENCC_000101-HGNC_25415-OMIM_615135-HP_0000007-GENCC_100004"	"HGNC:25415"	"PPM1K"	"MONDO:0014057"	"maple syrup urine disease, mild variant"	"OMIM:615135"	"Maple syrup urine disease, mild variant"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25415"	"PPM1K"	"OMIM:615135"	"Maple syrup urine disease, mild variant"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78748"	"2023-08-19"
"GENCC_000101-HGNC_9280-OMIM_176200-HP_0032113-GENCC_100001"	"HGNC:9280"	"PPOX"	"MONDO:0008297"	"variegate porphyria"	"OMIM:176200"	"Variegate porphyria"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9280"	"PPOX"	"OMIM:176200"	"Porphyria variegata"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-08-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65957"	"2023-08-19"
"GENCC_000101-HGNC_17485-OMIM_618419-HP_0000007-GENCC_100004"	"HGNC:17485"	"PPP2R3C"	"MONDO:0032738"	"gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy"	"OMIM:618419"	"Myoectodermal gonadal dysgenesis syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17485"	"PPP2R3C"	"OMIM:618419"	"Myoectodermal gonadal dysgenesis syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-18 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13468"	"2023-08-19"
"GENCC_000101-HGNC_13998-OMIM_619761-HP_0000007-GENCC_100004"	"HGNC:13998"	"PRDM13"	"MONDO:0859229"	"cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism"	"OMIM:619761"	"Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13998"	"PRDM13"	"OMIM:619761"	"Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13156"	"2023-08-19"
"GENCC_000101-HGNC_13998-OMIM_619909-HP_0000007-GENCC_100004"	"HGNC:13998"	"PRDM13"	"MONDO:0030890"	"pontocerebellar hypoplasia, IIA 17"	"OMIM:619909"	"Pontocerebellar hypoplasia, type 17"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13998"	"PRDM13"	"OMIM:619909"	"Pontocerebellar hypoplasia, type 17"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13156"	"2023-08-19"
"GENCC_000101-HGNC_9354-OMIM_619862-HP_0000007-GENCC_100003"	"HGNC:9354"	"PRDX3"	"MONDO:0859245"	"spinocerebellar ataxia, autosomal recessive 32"	"OMIM:619862"	"Spinocerebellar ataxia, autosomal recessive 32"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9354"	"PRDX3"	"OMIM:619862"	"Spinocerebellar ataxia, autosomal recessive 32"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-11-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13435"	"2023-08-19"
"GENCC_000101-HGNC_9369-OMIM_620005-HP_0000007-GENCC_100004"	"HGNC:9369"	"PRIM1"	"MONDO:0859276"	"primordial dwarfism-immunodeficiency-lipodystrophy syndrome"	"OMIM:620005"	"Primordial dwarfism-immunodeficiency-lipodystrophy syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9369"	"PRIM1"	"OMIM:620005"	"Primordial dwarfism-immunodeficiency-lipodystrophy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13432"	"2023-08-19"
"GENCC_000101-HGNC_9380-OMIM_619142-HP_0000006-GENCC_100003"	"HGNC:9380"	"PRKACA"	"MONDO:0030876"	"cardioacrofacial dysplasia 1"	"OMIM:619142"	"Cardioacrofacial dysplasia 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9380"	"PRKACA"	"OMIM:619142"	"Cardioacrofacial dysplasia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-25 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13397"	"2025-01-17"
"GENCC_000101-HGNC_9381-OMIM_619143-HP_0000006-GENCC_100003"	"HGNC:9381"	"PRKACB"	"MONDO:0030877"	"cardioacrofacial dysplasia 2"	"OMIM:619143"	"Cardioacrofacial dysplasia 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9381"	"PRKACB"	"OMIM:619143"	"Cardioacrofacial dysplasia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-02-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13391"	"2023-08-19"
"GENCC_000101-HGNC_17340-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:17340"	"PRPF8"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17340"	"PRPF8"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-05-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13149"	"2023-08-19"
"GENCC_000101-HGNC_9537-OMIM_620038-HP_0000007-GENCC_100004"	"HGNC:9537"	"PSMB1"	"MONDO:0859287"	"neurodevelopmental disorder with microcephaly, hypotonia, and absent language"	"OMIM:620038"	"?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9537"	"PSMB1"	"OMIM:620038"	"Neurodevelopmental disorder with microcephaly, hypotonia, and absent language"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13450"	"2023-08-19"
"GENCC_000101-HGNC_9547-OMIM_620071-HP_0000007-GENCC_100004"	"HGNC:9547"	"PSMC1"	"MONDO:0859296"	"neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss"	"OMIM:620071"	"?Birk-Aharoni syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9547"	"PSMC1"	"OMIM:620071"	"Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13464"	"2023-08-19"
"GENCC_000101-HGNC_9587-OMIM_151050-HP_0000006-GENCC_100004"	"HGNC:9587"	"PTDSS1"	"MONDO:0007892"	"Lenz-Majewski hyperostotic dwarfism"	"OMIM:151050"	"Lenz-Majewski hyperostotic dwarfism"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9587"	"PTDSS1"	"OMIM:151050"	"Lenz-Majewski hyperostotic dwarfism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13730"	"2023-08-19"
"GENCC_000101-HGNC_9594-OMIM_208550-HP_0000006-GENCC_100004"	"HGNC:9594"	"PTGER2"	"MONDO:0008834"	"asthma, nasal polyps, and aspirin intolerance"	"OMIM:208550"	"{Asthma, aspirin-induced, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9594"	"PTGER2"	"OMIM:208550"	"Asthma, aspirin-induced, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13950"	"2023-08-19"
"GENCC_000101-HGNC_24713-OMIM_617982-HP_0000006-GENCC_100001"	"HGNC:24713"	"QRICH1"	"MONDO:0060707"	"Ververi-Brady syndrome"	"OMIM:617982"	"Ververi-Brady syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24713"	"QRICH1"	"OMIM:617982"	"Ververi-Brady syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-04-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18299"	"2023-08-19"
"GENCC_000101-HGNC_9817-OMIM_114480-HP_0000006-GENCC_100004"	"HGNC:9817"	"RAD51"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9817"	"RAD51"	"OMIM:114480"	"Breast cancer, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"7421"	"2023-08-19"
"GENCC_000101-HGNC_9820-OMIM_613399-HP_0000006-GENCC_100004"	"HGNC:9820"	"RAD51C"	"MONDO:0013253"	"breast-ovarian cancer, familial, susceptibility to, 3"	"OMIM:613399"	"{Breast-ovarian cancer, familial, susceptibility to, 3}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9820"	"RAD51C"	"OMIM:613399"	"Breast-ovarian cancer, familial, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-07-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"68652"	"2023-08-19"
"GENCC_000101-HGNC_18286-OMIM_620102-HP_0000007-GENCC_100004"	"HGNC:18286"	"RAX2"	"MONDO:0859308"	"retinitis pigmentosa 95"	"OMIM:620102"	"Retinitis pigmentosa 95"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18286"	"RAX2"	"OMIM:620102"	"Retinitis pigmentosa 95"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13177"	"2023-08-19"
"GENCC_000101-HGNC_9884-MONDO_0005105-HP_0000006-GENCC_100003"	"HGNC:9884"	"RB1"	"MONDO:0005105"	"melanoma"	"MONDO:0005105"	"melanoma"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9884"	"RB1"	"MONDO:0005105"	"melanoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-08-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13496"	"2023-08-19"
"GENCC_000101-HGNC_9905-OMIM_274000-HP_0000007-GENCC_100002"	"HGNC:9905"	"RBM8A"	"MONDO:0010121"	"thrombocytopenia-absent radius syndrome"	"OMIM:274000"	"Thrombocytopenia-absent radius syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9905"	"RBM8A"	"OMIM:274000"	"Thrombocytopenia-absent radius syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-12-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64806"	"2023-08-19"
"GENCC_000101-HGNC_9948-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:9948"	"RECQL"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9948"	"RECQL"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2022-08-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"73267"	"2023-08-19"
"GENCC_000101-HGNC_25786-OMIM_620011-HP_0000007-GENCC_100004"	"HGNC:25786"	"REEP1"	"MONDO:0859279"	"spinal muscular atrophy, distal, autosomal recessive, 6"	"OMIM:620011"	"Neuronopathy, distal hereditary motor, autosomal recessive 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25786"	"REEP1"	"OMIM:620011"	"Spinal muscular atrophy, distal, autosomal recessive, 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18225"	"2023-08-19"
"GENCC_000101-HGNC_9958-OMIM_613092-HP_0000006-GENCC_100001"	"HGNC:9958"	"REN"	"MONDO:0013128"	"familial juvenile hyperuricemic nephropathy type 2"	"OMIM:613092"	"Tubulointerstitial kidney disease, autosomal dominant, 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9958"	"REN"	"OMIM:613092"	"Tubulointerstitial kidney disease, autosomal dominant, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65680"	"2023-08-19"
"GENCC_000101-HGNC_9966-OMIM_612431-HP_0000006-GENCC_100004"	"HGNC:9966"	"REST"	"MONDO:0012902"	"autosomal dominant nonsyndromic hearing loss 27"	"OMIM:612431"	"Deafness, autosomal dominant 27"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9966"	"REST"	"OMIM:612431"	"Deafness, autosomal dominant 27"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13953"	"2023-08-19"
"GENCC_000101-HGNC_9966-OMIM_616806-HP_0000006-GENCC_100004"	"HGNC:9966"	"REST"	"MONDO:0014779"	"Wilms tumor 6"	"OMIM:616806"	"{Wilms tumor 6, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9966"	"REST"	"OMIM:616806"	"Wilms tumor 6, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-26 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"12513"	"2023-08-19"
"GENCC_000101-HGNC_9966-OMIM_617626-HP_0000006-GENCC_100003"	"HGNC:9966"	"REST"	"MONDO:0033493"	"fibromatosis, gingival, 5"	"OMIM:617626"	"Fibromatosis, gingival, 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9966"	"REST"	"OMIM:617626"	"Fibromatosis, gingival, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-26 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11821"	"2023-08-19"
"GENCC_000101-HGNC_26814-OMIM_619790-HP_0000006-GENCC_100004"	"HGNC:26814"	"RILPL1"	"MONDO:0030712"	"oculopharyngodistal myopathy 4"	"OMIM:619790"	"Oculopharyngodistal myopathy 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26814"	"RILPL1"	"OMIM:619790"	"Oculopharyngodistal myopathy 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-05-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42212"	"2023-08-19"
"GENCC_000101-HGNC_21876-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:21876"	"RINT1"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21876"	"RINT1"	"MONDO:0007254"	"Breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2023-02-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"72528"	"2023-08-19"
"GENCC_000101-HGNC_18505-OMIM_617108-HP_0000006-GENCC_100004"	"HGNC:18505"	"RNF43"	"MONDO:0014919"	"sessile serrated polyposis cancer syndrome"	"OMIM:617108"	"Sessile serrated polyposis cancer syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18505"	"RNF43"	"OMIM:617108"	"Sessile serrated polyposis cancer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-08 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74611"	"2025-01-17"
"GENCC_000101-HGNC_15946-OMIM_618826-HP_0000007-GENCC_100004"	"HGNC:15946"	"RP1L1"	"MONDO:0032940"	"retinitis pigmentosa 88"	"OMIM:618826"	"Retinitis pigmentosa 88"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15946"	"RP1L1"	"OMIM:618826"	"Retinitis pigmentosa 88"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"68754"	"2023-08-19"
"GENCC_000101-HGNC_15946-OMIM_613587-HP_0000006-GENCC_100002"	"HGNC:15946"	"RP1L1"	"MONDO:0013316"	"occult macular dystrophy"	"OMIM:613587"	"Occult macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15946"	"RP1L1"	"OMIM:613587"	"Occult macular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-06-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"67306"	"2023-08-19"
"GENCC_000101-HGNC_10327-OMIM_614900-HP_0000006-GENCC_100004"	"HGNC:10327"	"RPL26"	"MONDO:0013964"	"Diamond-Blackfan anemia 11"	"OMIM:614900"	"?Diamond-Blackfan anemia 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10327"	"RPL26"	"OMIM:614900"	"Diamond-Blackfan anemia 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-05 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65818"	"2023-08-19"
"GENCC_000101-HGNC_19903-OMIM_620152-HP_0000006-GENCC_100003"	"HGNC:19903"	"RRAGD"	"MONDO:0859328"	"hypomagnesemia 7, renal, with or without dilated cardiomyopathy"	"OMIM:620152"	"Hypomagnesemia 7, renal, with or without dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19903"	"RRAGD"	"OMIM:620152"	"Hypomagnesemia 7, renal, with or without dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13875"	"2023-08-19"
"GENCC_000101-HGNC_10471-OMIM_601399-HP_0000006-GENCC_100001"	"HGNC:10471"	"RUNX1"	"MONDO:0100083"	"hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1"	"OMIM:601399"	"Platelet disorder, familial, with associated myeloid malignancy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10471"	"RUNX1"	"OMIM:601399"	"Platelet disorder, familial, with associated myeloid malignancy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92738"	"2023-08-19"
"GENCC_000101-HGNC_1348-OMIM_619041-HP_0000006-GENCC_100004"	"HGNC:1348"	"SAMD9"	"MONDO:0030801"	"monosomy 7 myelodysplasia and leukemia syndrome 2"	"OMIM:619041"	"Monosomy 7 myelodysplasia and leukemia syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1348"	"SAMD9"	"OMIM:619041"	"Monosomy 7 myelodysplasia and leukemia syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13510"	"2023-08-19"
"GENCC_000101-HGNC_1349-OMIM_159550-HP_0000006-GENCC_100001"	"HGNC:1349"	"SAMD9L"	"MONDO:0008038"	"ataxia-pancytopenia syndrome"	"OMIM:159550"	"Ataxia-pancytopenia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1349"	"SAMD9L"	"OMIM:159550"	"Ataxia-pancytopenia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-12-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18238"	"2023-08-19"
"GENCC_000101-HGNC_1349-OMIM_619806-HP_0000006-GENCC_100004"	"HGNC:1349"	"SAMD9L"	"MONDO:0030805"	"spinocerebellar ataxia 49"	"OMIM:619806"	"?Spinocerebellar ataxia 49"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1349"	"SAMD9L"	"OMIM:619806"	"Spinocerebellar ataxia 49"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13513"	"2023-08-19"
"GENCC_000101-HGNC_15925-OMIM_614415-HP_0000006-GENCC_100004"	"HGNC:15925"	"SAMHD1"	"MONDO:0013739"	"chilblain lupus 2"	"OMIM:614415"	"?Chilblain lupus 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15925"	"SAMHD1"	"OMIM:614415"	"Chilblain lupus 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61437"	"2023-08-19"
"GENCC_000101-HGNC_10593-OMIM_601154-HP_0000006-GENCC_100001"	"HGNC:10593"	"SCN5A"	"MONDO:0011003"	"dilated cardiomyopathy 1E"	"OMIM:601154"	"Cardiomyopathy, dilated, 1E"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10593"	"SCN5A"	"OMIM:601154"	"Cardiomyopathy, dilated, 1E"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2021-11-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65886"	"2023-08-19"
"GENCC_000101-HGNC_23136-OMIM_620107-HP_0000007-GENCC_100004"	"HGNC:23136"	"SCNM1"	"MONDO:0859310"	"orofaciodigital syndrome 19"	"OMIM:620107"	"Orofaciodigital syndrome XIX"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23136"	"SCNM1"	"OMIM:620107"	"Orofaciodigital syndrome XIX"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13577"	"2023-08-19"
"GENCC_000101-HGNC_10599-OMIM_618126-HP_0000006-GENCC_100004"	"HGNC:10599"	"SCNN1A"	"MONDO:0029132"	"Liddle syndrome 3"	"OMIM:618126"	"?Liddle syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10599"	"SCNN1A"	"OMIM:618126"	"Liddle syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13535"	"2023-08-19"
"GENCC_000101-HGNC_13655-OMIM_619184-HP_0000007-GENCC_100003"	"HGNC:13655"	"SCUBE3"	"MONDO:0030953"	"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2"	"OMIM:619184"	"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13655"	"SCUBE3"	"OMIM:619184"	"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-11-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15825"	"2023-08-19"
"GENCC_000101-HGNC_18276-OMIM_617056-HP_0000006-GENCC_100003"	"HGNC:18276"	"SEC61A1"	"MONDO:0014891"	"hyperuricemic nephropathy, familial juvenile type 4"	"OMIM:617056"	"Tubulointerstitial kidney disease, autosomal dominant, 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18276"	"SEC61A1"	"OMIM:617056"	"Tubulointerstitial kidney disease, autosomal dominant, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-19 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18695"	"2023-08-19"
"GENCC_000101-HGNC_1540-OMIM_611489-HP_0000006-GENCC_100003"	"HGNC:1540"	"SERPINA6"	"MONDO:0012675"	"corticosteroid-binding globulin deficiency"	"OMIM:611489"	"Corticosteroid-binding globulin deficiency"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1540"	"SERPINA6"	"OMIM:611489"	"Corticosteroid-binding globulin deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"92753"	"2023-08-19"
"GENCC_000101-HGNC_10807-OMIM_606685-HP_0000006-GENCC_100005"	"HGNC:10807"	"SGCD"	"MONDO:0011702"	"dilated cardiomyopathy 1L"	"OMIM:606685"	"Cardiomyopathy, dilated, 1L"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10807"	"SGCD"	"OMIM:606685"	"Cardiomyopathy, dilated, 1L"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2023-03-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13370"	"2023-08-19"
"GENCC_000101-HGNC_25088-OMIM_616201-HP_0000006-GENCC_100004"	"HGNC:25088"	"SGO1"	"MONDO:0014528"	"chronic atrial and intestinal dysrhythmia"	"OMIM:616201"	"Chronic atrial and intestinal dysrhythmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25088"	"SGO1"	"OMIM:616201"	"Chronic atrial and intestinal dysrhythmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78789"	"2023-08-19"
"GENCC_000101-HGNC_10892-OMIM_212550-HP_0000007-GENCC_100004"	"HGNC:10892"	"SIX6"	"MONDO:0008927"	"colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"	"OMIM:212550"	"Optic disc anomalies with retinal and/or macular dystrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10892"	"SIX6"	"OMIM:212550"	"Optic disc anomalies with retinal and/or macular dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-14 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13395"	"2023-08-19"
"GENCC_000101-HGNC_10906-OMIM_613291-HP_0000007-GENCC_100004"	"HGNC:10906"	"SLC10A2"	"MONDO:0013214"	"bile acid malabsorption, primary, 1"	"OMIM:613291"	"?Bile acid malabsorption, primary, 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10906"	"SLC10A2"	"OMIM:613291"	"Bile acid malabsorption, primary, 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"1615"	"2023-08-19"
"GENCC_000101-HGNC_13818-OMIM_616685-HP_0000006-GENCC_100004"	"HGNC:13818"	"SLC12A5"	"MONDO:0014734"	"epilepsy, idiopathic generalized, susceptibility to, 14"	"OMIM:616685"	"{Epilepsy, idiopathic generalized, susceptibility to, 14}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13818"	"SLC12A5"	"OMIM:616685"	"Epilepsy, idiopathic generalized, susceptibility to, 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-11 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"72346"	"2025-01-17"
"GENCC_000101-HGNC_13818-OMIM_616645-HP_0000007-GENCC_100004"	"HGNC:13818"	"SLC12A5"	"MONDO:0014718"	"developmental and epileptic encephalopathy, 34"	"OMIM:616645"	"Developmental and epileptic encephalopathy 34"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13818"	"SLC12A5"	"OMIM:616645"	"Developmental and epileptic encephalopathy 34"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-11 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14543"	"2025-01-17"
"GENCC_000101-HGNC_10969-OMIM_212140-HP_0000007-GENCC_100001"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"OMIM:212140"	"Carnitine deficiency, systemic primary"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10969"	"SLC22A5"	"OMIM:212140"	"Carnitine deficiency, systemic primary"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64348"	"2023-08-19"
"GENCC_000101-HGNC_25554-OMIM_620211-HP_0000007-GENCC_100004"	"HGNC:25554"	"SLC25A36"	"MONDO:0859362"	"hyperinsulinemic hypoglycemia, familial, 8"	"OMIM:620211"	"Hyperinsulinemic hypoglycemia, familial, 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25554"	"SLC25A36"	"OMIM:620211"	"Hyperinsulinemic hypoglycemia, familial, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13828"	"2023-08-19"
"GENCC_000101-HGNC_11019-OMIM_616963-HP_0000007-GENCC_100003"	"HGNC:11019"	"SLC34A1"	"MONDO:0014851"	"hypercalcemia, infantile, 2"	"OMIM:616963"	"Hypercalcemia, infantile, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11019"	"SLC34A1"	"OMIM:616963"	"Hypercalcemia, infantile, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"18802"	"2023-08-19"
"GENCC_000101-HGNC_11019-OMIM_612286-HP_0000006-GENCC_100004"	"HGNC:11019"	"SLC34A1"	"MONDO:0012850"	"hypophosphatemic nephrolithiasis/osteoporosis 1"	"OMIM:612286"	"Nephrolithiasis/osteoporosis, hypophosphatemic, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11019"	"SLC34A1"	"OMIM:612286"	"Nephrolithiasis/osteoporosis, hypophosphatemic, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64347"	"2023-08-19"
"GENCC_000101-HGNC_11020-OMIM_265100-HP_0000007-GENCC_100001"	"HGNC:11020"	"SLC34A2"	"MONDO:0009928"	"pulmonary alveolar microlithiasis"	"OMIM:265100"	"Pulmonary alveolar microlithiasis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11020"	"SLC34A2"	"OMIM:265100"	"Pulmonary alveolar microlithiasis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42291"	"2023-08-19"
"GENCC_000101-HGNC_16872-OMIM_620269-HP_0000007-GENCC_100004"	"HGNC:16872"	"SLC35B2"	"MONDO:0859518"	"leukodystrophy, hypomyelinating, 26, with chondrodysplasia"	"OMIM:620269"	"Leukodystrophy, hypomyelinating, 26, with chondrodysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16872"	"SLC35B2"	"OMIM:620269"	"Leukodystrophy, hypomyelinating, 26, with chondrodysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-05-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13108"	"2023-08-19"
"GENCC_000101-HGNC_18044-OMIM_619881-HP_0000007-GENCC_100003"	"HGNC:18044"	"SLC38A3"	"MONDO:0030881"	"developmental and epileptic encephalopathy 102"	"OMIM:619881"	"Developmental and epileptic encephalopathy 102"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18044"	"SLC38A3"	"OMIM:619881"	"Developmental and epileptic encephalopathy 102"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13812"	"2023-08-19"
"GENCC_000101-HGNC_32434-OMIM_609218-HP_0000007-GENCC_100001"	"HGNC:32434"	"SLC38A8"	"MONDO:0012216"	"foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"	"OMIM:609218"	"Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32434"	"SLC38A8"	"OMIM:609218"	"Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-03-30 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"78334"	"2023-08-19"
"GENCC_000101-HGNC_11029-OMIM_620231-HP_0000006-GENCC_100003"	"HGNC:11029"	"SLC4A3"	"MONDO:0859368"	"short QT syndrome 7"	"OMIM:620231"	"Short QT syndrome 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11029"	"SLC4A3"	"OMIM:620231"	"Short QT syndrome 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-03-08 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13239"	"2023-08-19"
"GENCC_000101-HGNC_11065-OMIM_222700-HP_0000007-GENCC_100001"	"HGNC:11065"	"SLC7A7"	"MONDO:0009109"	"lysinuric protein intolerance"	"OMIM:222700"	"Lysinuric protein intolerance"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11065"	"SLC7A7"	"OMIM:222700"	"Lysinuric protein intolerance"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2021-12-07 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64649"	"2023-08-19"
"GENCC_000101-HGNC_10955-OMIM_167100-HP_0000006-GENCC_100001"	"HGNC:10955"	"SLCO2A1"	"MONDO:0008172"	"hypertrophic osteoarthropathy, primary, autosomal dominant"	"OMIM:167100"	"Hypertrophic osteoarthropathy, primary, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10955"	"SLCO2A1"	"OMIM:167100"	"Hypertrophic osteoarthropathy, primary, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-04-19 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42281"	"2023-08-19"
"GENCC_000101-HGNC_17814-OMIM_620184-HP_0000007-GENCC_100003"	"HGNC:17814"	"SLF2"	"MONDO:0859575"	"Atelis syndrome 1"	"OMIM:620184"	"Atelis syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17814"	"SLF2"	"OMIM:620184"	"Atelis syndrome 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13530"	"2023-08-19"
"GENCC_000101-HGNC_6768-OMIM_619656-HP_0000006-GENCC_100003"	"HGNC:6768"	"SMAD2"	"MONDO:0030500"	"Loeys-Dietz syndrome 6"	"OMIM:619656"	"Loeys-Dietz syndrome 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6768"	"SMAD2"	"OMIM:619656"	"Loeys-Dietz syndrome 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"75267"	"2023-08-19"
"GENCC_000101-HGNC_6772-OMIM_617439-HP_0000006-GENCC_100003"	"HGNC:6772"	"SMAD6"	"MONDO:0044315"	"craniosynostosis 7"	"OMIM:617439"	"{Craniosynostosis 7, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6772"	"SMAD6"	"OMIM:617439"	"Craniosynostosis 7, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17547"	"2023-08-19"
"GENCC_000101-HGNC_6772-OMIM_179300-HP_0000006-GENCC_100002"	"HGNC:6772"	"SMAD6"	"MONDO:0100183"	"radioulnar synostosis, nonsyndromic, susceptibility to"	"OMIM:179300"	"{Radioulnar synostosis, nonsyndromic}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6772"	"SMAD6"	"OMIM:179300"	"Radioulnar synostosis, nonsyndromic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-12-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14039"	"2023-08-19"
"GENCC_000101-HGNC_6774-OMIM_615342-HP_0000006-GENCC_100004"	"HGNC:6774"	"SMAD9"	"MONDO:0014134"	"pulmonary hypertension, primary, 2"	"OMIM:615342"	"Pulmonary hypertension, primary, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6774"	"SMAD9"	"OMIM:615342"	"Pulmonary hypertension, primary, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-18 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"65332"	"2023-08-19"
"GENCC_000101-HGNC_20465-OMIM_620185-HP_0000007-GENCC_100003"	"HGNC:20465"	"SMC5"	"MONDO:0859576"	"Atelis syndrome 2"	"OMIM:620185"	"Atelis syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20465"	"SMC5"	"OMIM:620185"	"Atelis syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-26 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13531"	"2024-01-02"
"GENCC_000101-HGNC_25551-OMIM_619268-HP_0000007-GENCC_100003"	"HGNC:25551"	"SMG8"	"MONDO:0859136"	"Alzahrani-Kuwahara syndrome"	"OMIM:619268"	"Alzahrani-Kuwahara syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25551"	"SMG8"	"OMIM:619268"	"Alzahrani-Kuwahara syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-30 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15810"	"2024-01-02"
"GENCC_000101-HGNC_20323-OMIM_125400-HP_0000007-GENCC_100004"	"HGNC:20323"	"SMOC2"	"MONDO:0007436"	"dentin dysplasia type I"	"OMIM:125400"	"Dentin dysplasia, type I, with microdontia and misshapen teeth"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20323"	"SMOC2"	"OMIM:125400"	"Dentin dysplasia, type I, with microdontia and misshapen teeth"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-11-22 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13504"	"2023-08-19"
"GENCC_000101-HGNC_11179-OMIM_618598-HP_0000007-GENCC_100004"	"HGNC:11179"	"SOD1"	"MONDO:0032828"	"spastic tetraplegia and axial hypotonia, progressive"	"OMIM:618598"	"Spastic tetraplegia and axial hypotonia, progressive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11179"	"SOD1"	"OMIM:618598"	"Spastic tetraplegia and axial hypotonia, progressive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13985"	"2023-08-19"
"GENCC_000101-HGNC_18122-OMIM_613674-HP_0000006-GENCC_100002"	"HGNC:18122"	"SOX17"	"MONDO:0013356"	"vesicoureteral reflux 3"	"OMIM:613674"	"Vesicoureteral reflux 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18122"	"SOX17"	"OMIM:613674"	"Vesicoureteral reflux 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-02-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"15428"	"2023-08-19"
"GENCC_000101-HGNC_28762-OMIM_619616-HP_0000007-GENCC_100003"	"HGNC:28762"	"AFG2B"	"MONDO:0859206"	"neurodevelopmental disorder with hearing loss and spasticity"	"OMIM:619616"	"Neurodevelopmental disorder with hearing loss and spasticity"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28762"	"SPATA5L1"	"OMIM:619616"	"Neurodevelopmental disorder with hearing loss and spasticity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-11-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13876"	"2023-08-19"
"GENCC_000101-HGNC_28971-OMIM_619665-HP_0000007-GENCC_100004"	"HGNC:28971"	"SPIDR"	"MONDO:0030506"	"ovarian dysgenesis 9"	"OMIM:619665"	"Ovarian dysgenesis 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28971"	"SPIDR"	"OMIM:619665"	"Ovarian dysgenesis 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-15 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"17121"	"2023-08-19"
"GENCC_000101-HGNC_17722-OMIM_619745-HP_0000007-GENCC_100003"	"HGNC:17722"	"SPRED2"	"MONDO:0030679"	"Noonan syndrome 14"	"OMIM:619745"	"Noonan syndrome 14"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17722"	"SPRED2"	"OMIM:619745"	"Noonan syndrome 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-03 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13817"	"2025-01-17"
"GENCC_000101-HGNC_11277-OMIM_620285-HP_0000006-GENCC_100002"	"HGNC:11277"	"SPTLC1"	"MONDO:0859529"	"amyotrophic lateral sclerosis 27, juvenile"	"OMIM:620285"	"Amyotrophic lateral sclerosis 27, juvenile"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11277"	"SPTLC1"	"OMIM:620285"	"Amyotrophic lateral sclerosis 27, juvenile"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-05-26 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13200"	"2023-08-19"
"GENCC_000101-HGNC_16974-OMIM_619595-HP_0000006-GENCC_100001"	"HGNC:16974"	"SRCAP"	"MONDO:0859202"	"developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities"	"OMIM:619595"	"Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16974"	"SRCAP"	"OMIM:619595"	"Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-05-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13146"	"2023-08-19"
"GENCC_000101-HGNC_11408-OMIM_614868-HP_0000007-GENCC_100001"	"HGNC:11408"	"STK4"	"MONDO:0013934"	"combined immunodeficiency due to STK4 deficiency"	"OMIM:614868"	"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11408"	"STK4"	"OMIM:614868"	"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-05-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42203"	"2023-08-19"
"GENCC_000101-HGNC_6172-OMIM_619714-HP_0000006-GENCC_100003"	"HGNC:6172"	"STT3A"	"MONDO:0859223"	"congenital disorder of glycosylation, type Iw, autosomal dominant"	"OMIM:619714"	"Congenital disorder of glycosylation, type Iw, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6172"	"STT3A"	"OMIM:619714"	"Congenital disorder of glycosylation, type Iw, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-10 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"69817"	"2023-08-19"
"GENCC_000101-HGNC_11431-OMIM_603233-HP_0000006-GENCC_100002"	"HGNC:11431"	"STX16"	"MONDO:0011301"	"pseudohypoparathyroidism type 1B"	"OMIM:603233"	"Pseudohypoparathyroidism Ib"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11431"	"STX16"	"OMIM:603233"	"Pseudohypoparathyroidism, type IB"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2022-10-24 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"69848"	"2023-08-19"
"GENCC_000101-HGNC_16466-MONDO_0018772-HP_0000006-GENCC_100003"	"HGNC:16466"	"SUFU"	"MONDO:0018772"	"Joubert syndrome"	"MONDO:0018772"	"Joubert syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16466"	"SUFU"	"MONDO:0018772"	"Joubert syndrome "	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"11621"	"2023-08-19"
"GENCC_000101-HGNC_17300-OMIM_619972-HP_0000007-GENCC_100004"	"HGNC:17300"	"TAF8"	"MONDO:0859266"	"neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy"	"OMIM:619972"	"Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17300"	"TAF8"	"OMIM:619972"	"Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13439"	"2023-08-19"
"GENCC_000101-HGNC_25187-OMIM_620139-HP_0000007-GENCC_100004"	"HGNC:25187"	"TAMM41"	"MONDO:0859323"	"combined oxidative phosphorylation deficiency 56"	"OMIM:620139"	"Combined oxidative phosphorylation deficiency 56"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25187"	"TAMM41"	"OMIM:620139"	"Combined oxidative phosphorylation deficiency 56"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13342"	"2023-08-19"
"GENCC_000101-HGNC_30740-OMIM_615918-HP_0000007-GENCC_100003"	"HGNC:30740"	"TARS2"	"MONDO:0014398"	"combined oxidative phosphorylation defect type 21"	"OMIM:615918"	"Combined oxidative phosphorylation deficiency 21"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30740"	"TARS2"	"OMIM:615918"	"Combined oxidative phosphorylation deficiency 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-27 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78024"	"2024-01-02"
"GENCC_000101-HGNC_11582-OMIM_617207-HP_0000007-GENCC_100004"	"HGNC:11582"	"TBCE"	"MONDO:0014968"	"encephalopathy, progressive, with amyotrophy and optic atrophy"	"OMIM:617207"	"Encephalopathy, progressive, with amyotrophy and optic atrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11582"	"TBCE"	"OMIM:617207"	"Encephalopathy, progressive, with amyotrophy and optic atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-03-28 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13192"	"2023-08-19"
"GENCC_000101-HGNC_11610-OMIM_601954-HP_0000007-GENCC_100002"	"HGNC:11610"	"TCAP"	"MONDO:0011170"	"autosomal recessive limb-girdle muscular dystrophy type 2G"	"OMIM:601954"	"Muscular dystrophy, limb-girdle, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11610"	"TCAP"	"OMIM:601954"	"Muscular dystrophy, limb-girdle, autosomal recessive 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2021-12-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13939"	"2023-08-19"
"GENCC_000101-HGNC_11616-OMIM_301094-HP_0001417-GENCC_100003"	"HGNC:11616"	"TCEAL1"	"MONDO:0859085"	"neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked"	"OMIM:301094"	"Hijazi-Reis syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11616"	"TCEAL1"	"OMIM:301094"	"Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-11-18 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13594"	"2023-08-19"
"GENCC_000101-HGNC_11653-OMIM_275350-HP_0000007-GENCC_100001"	"HGNC:11653"	"TCN2"	"MONDO:0010149"	"transcobalamin II deficiency"	"OMIM:275350"	"Transcobalamin II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11653"	"TCN2"	"OMIM:275350"	"Transcobalamin II deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-05-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64567"	"2023-08-19"
"GENCC_000101-HGNC_29945-OMIM_616736-HP_0000006-GENCC_100004"	"HGNC:29945"	"TENM4"	"MONDO:0014756"	"tremor, hereditary essential, 5"	"OMIM:616736"	"Essential tremor, hereditary, 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29945"	"TENM4"	"OMIM:616736"	"Essential tremor, hereditary, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"73017"	"2023-08-19"
"GENCC_000101-HGNC_11740-OMIM_209300-HP_0000007-GENCC_100004"	"HGNC:11740"	"TF"	"MONDO:0008846"	"atransferrinemia"	"OMIM:209300"	"Atransferrinemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11740"	"TF"	"OMIM:209300"	"Atransferrinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-19 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"1554"	"2023-08-19"
"GENCC_000101-HGNC_11772-OMIM_132800-HP_0000006-GENCC_100003"	"HGNC:11772"	"TGFBR1"	"MONDO:0007566"	"multiple self-healing squamous epithelioma"	"OMIM:132800"	"{Multiple self-healing squamous epithelioma, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11772"	"TGFBR1"	"OMIM:132800"	"Multiple self-healing squamous epithelioma, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-03-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"1366"	"2023-08-19"
"GENCC_000101-HGNC_23807-OMIM_619989-HP_0000007-GENCC_100003"	"HGNC:23807"	"THUMPD1"	"MONDO:0859272"	"neurodevelopmental disorder with speech delay and variable ocular anomalies"	"OMIM:619989"	"Neurodevelopmental disorder with speech delay and variable ocular anomalies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23807"	"THUMPD1"	"OMIM:619989"	"Neurodevelopmental disorder with speech delay and variable ocular anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13153"	"2023-08-19"
"GENCC_000101-HGNC_11805-OMIM_619908-HP_0000007-GENCC_100004"	"HGNC:11805"	"TIAM1"	"MONDO:0859256"	"neurodevelopmental disorder with language delay and seizures"	"OMIM:619908"	"Neurodevelopmental disorder with language delay and seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11805"	"TIAM1"	"OMIM:619908"	"Neurodevelopmental disorder with language delay and seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-06-09 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13194"	"2023-08-19"
"GENCC_000101-HGNC_11809-OMIM_619401-HP_0000006-GENCC_100004"	"HGNC:11809"	"TIE1"	"MONDO:0030316"	"lymphatic malformation 11"	"OMIM:619401"	"Lymphatic malformation 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11809"	"TIE1"	"OMIM:619401"	"Lymphatic malformation 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-02-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13306"	"2023-08-19"
"GENCC_000101-HGNC_28497-OMIM_620245-HP_0000006-GENCC_100003"	"HGNC:28497"	"TMEM151A"	"MONDO:0859380"	"episodic kinesigenic dyskinesia 3"	"OMIM:620245"	"Episodic kinesigenic dyskinesia 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28497"	"TMEM151A"	"OMIM:620245"	"Episodic kinesigenic dyskinesia 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-05-25 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13359"	"2023-08-19"
"GENCC_000101-HGNC_25380-OMIM_620243-HP_0000006-GENCC_100004"	"HGNC:25380"	"TMEM163"	"MONDO:0859378"	"leukodystrophy, hypomyelinating, 25"	"OMIM:620243"	"Leukodystrophy, hypomyelinating, 25"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25380"	"TMEM163"	"OMIM:620243"	"Leukodystrophy, hypomyelinating, 25"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-04-29 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13117"	"2023-08-19"
"GENCC_000101-HGNC_28472-OMIM_619832-HP_0000006-GENCC_100004"	"HGNC:28472"	"TMEM43"	"MONDO:0859235"	"auditory neuropathy, autosomal dominant 3"	"OMIM:619832"	"Auditory neuropathy, autosomal dominant 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28472"	"TMEM43"	"OMIM:619832"	"Auditory neuropathy, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13070"	"2023-08-19"
"GENCC_000101-HGNC_23787-OMIM_619966-HP_0000007-GENCC_100004"	"HGNC:23787"	"TMEM63C"	"MONDO:0031019"	"spastic paraplegia 87, autosomal recessive"	"OMIM:619966"	"Spastic paraplegia 87, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23787"	"TMEM63C"	"OMIM:619966"	"Spastic paraplegia 87, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13430"	"2023-08-19"
"GENCC_000101-HGNC_11924-OMIM_620282-HP_0000007-GENCC_100003"	"HGNC:11924"	"TNFRSF9"	"MONDO:0859526"	"immunodeficiency 109 with lymphoproliferation"	"OMIM:620282"	"Immunodeficiency 109 with lymphoproliferation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11924"	"TNFRSF9"	"OMIM:620282"	"Immunodeficiency 109 with lymphoproliferation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-04-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"42222"	"2023-08-19"
"GENCC_000101-HGNC_11944-OMIM_620161-HP_0000006-GENCC_100004"	"HGNC:11944"	"TNNC2"	"MONDO:0859335"	"congenital myopathy 15"	"OMIM:620161"	"Congenital myopathy 15"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11944"	"TNNC2"	"OMIM:620161"	"Congenital myopathy 15"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13534"	"2023-08-19"
"GENCC_000101-HGNC_11947-OMIM_611880-HP_0000007-GENCC_100001"	"HGNC:11947"	"TNNI3"	"MONDO:0012746"	"dilated cardiomyopathy 2A"	"OMIM:611880"	"?Cardiomyopathy, dilated, 2A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11947"	"TNNI3"	"OMIM:611880"	"Cardiomyopathy, dilated, 2A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-07-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13421"	"2023-08-19"
"GENCC_000101-HGNC_11868-OMIM_620027-HP_0000007-GENCC_100004"	"HGNC:11868"	"TRAPPC10"	"MONDO:0859285"	"neurodevelopmental disorder with microcephaly, short stature, and speech delay"	"OMIM:620027"	"Neurodevelopmental disorder with microcephaly, short stature, and speech delay"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11868"	"TRAPPC10"	"OMIM:620027"	"Neurodevelopmental disorder with microcephaly, short stature, and speech delay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-09-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13457"	"2023-08-19"
"GENCC_000101-HGNC_23141-OMIM_616539-HP_0000007-GENCC_100003"	"HGNC:23141"	"TRMT5"	"MONDO:0014684"	"combined oxidative phosphorylation defect type 26"	"OMIM:616539"	"Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23141"	"TRMT5"	"OMIM:616539"	"Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-02-17 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13823"	"2023-08-19"
"GENCC_000101-HGNC_17993-OMIM_618531-HP_0000006-GENCC_100004"	"HGNC:17993"	"TRPM4"	"MONDO:0032801"	"erythrokeratodermia variabilis et progressiva 6"	"OMIM:618531"	"Erythrokeratodermia variabilis et progressiva 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17993"	"TRPM4"	"OMIM:618531"	"Erythrokeratodermia variabilis et progressiva 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-31 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13362"	"2023-08-19"
"GENCC_000101-HGNC_12425-OMIM_619902-HP_0000007-GENCC_100003"	"HGNC:12425"	"TULP3"	"MONDO:0859254"	"hepatorenocardiac degenerative fibrosis"	"OMIM:619902"	"Hepatorenocardiac degenerative fibrosis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12425"	"TULP3"	"OMIM:619902"	"Hepatorenocardiac degenerative fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-05-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13159"	"2023-08-19"
"GENCC_000101-HGNC_16803-OMIM_620270-HP_0000007-GENCC_100004"	"HGNC:16803"	"UBE3C"	"MONDO:0859519"	"neurodevelopmental disorder with absent speech and movement and behavioral abnormalities"	"OMIM:620270"	"Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16803"	"UBE3C"	"OMIM:620270"	"Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13325"	"2023-08-19"
"GENCC_000101-HGNC_12513-OMIM_620221-HP_0000006-GENCC_100003"	"HGNC:12513"	"UCHL1"	"MONDO:0859363"	"spastic paraplegia 79A, autosomal dominant, with ataxia"	"OMIM:620221"	"Spastic paraplegia 79A, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12513"	"UCHL1"	"OMIM:620221"	"Spastic paraplegia 79A, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-01-20 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13327"	"2023-08-19"
"GENCC_000101-HGNC_12563-OMIM_258900-HP_0000007-GENCC_100003"	"HGNC:12563"	"UMPS"	"MONDO:0009797"	"orotic aciduria"	"OMIM:258900"	"Orotic aciduria"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12563"	"UMPS"	"OMIM:258900"	"Orotic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-03-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64108"	"2023-08-19"
"GENCC_000101-HGNC_12590-OMIM_620137-HP_0000007-GENCC_100004"	"HGNC:12590"	"UQCRH"	"MONDO:0859321"	"mitochondrial complex 3 deficiency, nuclear type 11"	"OMIM:620137"	"?Mitochondrial complex III deficiency, nuclear type 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12590"	"UQCRH"	"OMIM:620137"	"Mitochondrial complex III deficiency, nuclear type 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-13 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13316"	"2023-08-19"
"GENCC_000101-HGNC_12593-OMIM_602491-HP_0000006-GENCC_100004"	"HGNC:12593"	"USF1"	"MONDO:0011237"	"hyperlipidemia, combined, 1"	"OMIM:602491"	"{Hyperlipidemia, familial combined, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12593"	"USF1"	"OMIM:602491"	"Hyperlipidemia, familial combined, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-12-16 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"60526"	"2023-08-19"
"GENCC_000101-HGNC_12616-OMIM_617397-HP_0000007-GENCC_100003"	"HGNC:12616"	"USP18"	"MONDO:0018828"	"pseudo-TORCH syndrome 2"	"OMIM:617397"	"Pseudo-TORCH syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12616"	"USP18"	"OMIM:617397"	"Pseudo-TORCH syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-09-06 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"14845"	"2023-08-19"
"GENCC_000101-HGNC_18533-OMIM_620227-HP_0000006-GENCC_100004"	"HGNC:18533"	"USP48"	"MONDO:0859366"	"hearing loss, autosomal dominant 85"	"OMIM:620227"	"Deafness, autosomal dominant 85"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18533"	"USP48"	"OMIM:620227"	"Deafness, autosomal dominant 85"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-03-23 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13351"	"2023-08-19"
"GENCC_000101-HGNC_12949-OMIM_620247-HP_0000006-GENCC_100004"	"HGNC:12949"	"VEZF1"	"MONDO:0859381"	"cardiomyopathy, dilated, 100"	"OMIM:620247"	"?Cardiomyopathy, dilated, 1OO"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12949"	"VEZF1"	"OMIM:620247"	"Cardiomyopathy, dilated, 1OO"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-04-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13331"	"2023-08-19"
"GENCC_000101-HGNC_1908-OMIM_200150-HP_0000007-GENCC_100001"	"HGNC:1908"	"VPS13A"	"MONDO:0008695"	"chorea-acanthocytosis"	"OMIM:200150"	"Choreoacanthocytosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1908"	"VPS13A"	"OMIM:200150"	"Choreoacanthocytosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-04-27 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"61532"	"2023-08-19"
"GENCC_000101-HGNC_25956-OMIM_619685-HP_0000007-GENCC_100004"	"HGNC:25956"	"VPS50"	"MONDO:0859216"	"neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis"	"OMIM:619685"	"Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25956"	"VPS50"	"OMIM:619685"	"Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2022-01-11 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13016"	"2023-08-19"
"GENCC_000101-HGNC_12731-OMIM_300299-HP_0001417-GENCC_100003"	"HGNC:12731"	"WAS"	"MONDO:0010294"	"X-linked severe congenital neutropenia"	"OMIM:300299"	"Neutropenia, severe congenital, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12731"	"WAS"	"OMIM:300299"	"Neutropenia, severe congenital, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-12-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64737"	"2023-08-19"
"GENCC_000101-HGNC_13831-OMIM_620237-HP_0000007-GENCC_100004"	"HGNC:13831"	"WDR11"	"MONDO:0859373"	"intellectual developmental disorder, autosomal recessive 78"	"OMIM:620237"	"Intellectual developmental disorder, autosomal recessive 78"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13831"	"WDR11"	"OMIM:620237"	"Intellectual developmental disorder, autosomal recessive 78"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-11-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13682"	"2023-08-19"
"GENCC_000101-HGNC_12762-OMIM_614296-HP_0000006-GENCC_100001"	"HGNC:12762"	"WFS1"	"MONDO:0013673"	"Wolfram-like syndrome"	"OMIM:614296"	"Wolfram-like syndrome, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12762"	"WFS1"	"OMIM:614296"	"Wolfram-like syndrome, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2022-10-21 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"64755"	"2023-08-19"
"GENCC_000101-HGNC_12766-OMIM_619695-HP_0000006-GENCC_100001"	"HGNC:12766"	"NSD2"	"MONDO:0859219"	"Rauch-Steindl syndrome"	"OMIM:619695"	"Rauch-Steindl syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12766"	"WHSC1"	"OMIM:619695"	"Rauch-Steindl syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-11-27 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67271"	"2025-01-17"
"GENCC_000101-HGNC_16762-OMIM_614844-HP_0000006-GENCC_100004"	"HGNC:16762"	"ZNF423"	"MONDO:0013916"	"nephronophthisis 14"	"OMIM:614844"	"Joubert syndrome 19"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16762"	"ZNF423"	"OMIM:614844"	"Nephronophthisis 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-01 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"4104"	"2023-08-19"
"GENCC_000101-HGNC_25821-OMIM_620194-HP_0000007-GENCC_100004"	"HGNC:25821"	"ZNF668"	"MONDO:0859350"	"neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies"	"OMIM:620194"	"Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25821"	"ZNF668"	"OMIM:620194"	"Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-01-12 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13536"	"2023-08-19"
"GENCC_000101-HGNC_24750-OMIM_619488-HP_0000007-GENCC_100003"	"HGNC:24750"	"ZNF699"	"MONDO:0859181"	"DEGCAGS syndrome"	"OMIM:619488"	"DEGCAGS syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24750"	"ZNF699"	"OMIM:619488"	"DEGCAGS syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2022-05-26 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13144"	"2023-08-19"
"GENCC_000101-HGNC_29271-OMIM_619644-HP_0000007-GENCC_100003"	"HGNC:29271"	"ZNFX1"	"MONDO:0030491"	"immunodeficiency 91 and hyperinflammation"	"OMIM:619644"	"Immunodeficiency 91 and hyperinflammation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29271"	"ZNFX1"	"OMIM:619644"	"Immunodeficiency 91 and hyperinflammation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-11-04 00:00:00"	""	""	""	"https://onlinelibrary.wiley.com/doi/10.1002/humu.23183"	"13687"	"2023-08-19"
"GENCC_000105-HGNC_25230-OMIM_615829-HP_0000006-GENCC_100002"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"OMIM:615829"	"Xia-Gibbs syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:25230"	"AHDC1"	"OMIM:615829"	"Xia-Gibbs syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-01-08 00:00:00"	""	""	"2479190, 27148574, 26350515, 32256298, 29230160"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"290620231"	"2023-06-30"
"GENCC_000105-HGNC_15772-OMIM_619964-HP_0000006-GENCC_100001"	"HGNC:15772"	"ARFGEF1"	"MONDO:0859263"	"developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"OMIM:619964"	"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:15772"	"ARFGEF1"	"OMIM:619964"	"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2023-06-15 00:00:00"	""	""	"31678406, 34113008"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"290620232"	"2023-06-30"
"GENCC_000105-HGNC_823-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:823"	"ATP5F1A"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:823"	"ATP5F1A"	"MONDO:0044970"	"Primary mitochondrial disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2023-02-03 00:00:00"	""	""	"23596069, 23599390, 30950220, 34483339, 34954817"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"290620233"	"2023-06-30"
"GENCC_000105-HGNC_1394-MONDO_0014776-HP_0000006-GENCC_100001"	"HGNC:1394"	"CACNA1G"	"MONDO:0014776"	"spinocerebellar ataxia type 42"	"MONDO:0014776"	"spinocerebellar ataxia type 42"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1394"	"CACNA1G"	"MONDO:0014776"	"Spinocerebellar ataxia type 42"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-01-21 00:00:00"	""	""	"26456284, 31229688, 29878067"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"290620234"	"2023-06-30"
"GENCC_000105-HGNC_1397-MONDO_0019952-HP_0032113-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100002"	"Strong"	"HP:0032113"	"Semidominant"	"GENCC:000105"	"Illumina"	"HGNC:1397"	"CACNA1S"	"MONDO:0019952"	"congenital myopathy"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2022-11-15 00:00:00"	""	""	"9539432, 28012042, 34440373, 31227654"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"290620235"	"2023-06-30"
"GENCC_000105-HGNC_28295-MONDO_0030873-HP_0000007-GENCC_100003"	"HGNC:28295"	"CCDC32"	"MONDO:0030873"	"cardiofacioneurodevelopmental syndrome"	"MONDO:0030873"	"cardiofacioneurodevelopmental syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:28295"	"CCDC32"	"MONDO:0030873"	"cardiofacioneurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2023-03-23 00:00:00"	""	""	"32307552, 35451546"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"290620236"	"2023-06-30"
"GENCC_000105-HGNC_25367-MONDO_0014475-HP_0000006-GENCC_100004"	"HGNC:25367"	"CCDC8"	"MONDO:0014475"	"spinocerebellar ataxia type 40"	"MONDO:0014475"	"spinocerebellar ataxia type 40"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:25367"	"CCDC8"	"MONDO:0014475"	"Spinocerebellar ataxia type 40"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-06-01 00:00:00"	""	""	"25062847, 30398676, 33602173"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"290620237"	"2023-06-30"
"GENCC_000105-HGNC_2092-OMIM_617854-HP_0000006-GENCC_100002"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"OMIM:617854"	"Intellectual developmental disorder, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:2092"	"CLTC"	"OMIM:617854"	"Intellectual developmental disorder, autosomal dominant 56"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-12-16 00:00:00"	""	""	"2682278, 27479843, 29100083"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"290620238"	"2023-06-30"
"GENCC_000105-HGNC_4077-OMIM_301091-HP_0001417-GENCC_100001"	"HGNC:4077"	"GABRA3"	"MONDO:0859564"	"epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"	"OMIM:301091"	"Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:4077"	"GABRA3"	"OMIM:301091"	"Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-07-02 00:00:00"	""	""	"31772029, 30692772, 27977873, 25613900, 11099415, 26275108"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"290620239"	"2023-06-30"
"GENCC_000105-HGNC_4078-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:4078"	"GABRA4"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4078"	"GABRA4"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2023-06-23 00:00:00"	""	""	"194290026, 27622563, 35152403, 35069119"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202310"	"2023-06-30"
"GENCC_000105-HGNC_4162-OMIM_600794-HP_0000006-GENCC_100001"	"HGNC:4162"	"GARS1"	"MONDO:0015353"	"neuronopathy, distal hereditary motor, type 5A"	"OMIM:600794"	"Neuronopathy, distal hereditary motor, autosomal dominant 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4162"	"GARS1"	"OMIM:600794"	"Neuronopathy, distal hereditary motor, type VA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-10-24 00:00:00"	""	""	"26244500, 22462675, 12690580, 19329989, 17035524, 16982418, 26138142"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202311"	"2023-06-30"
"GENCC_000105-HGNC_4396-OMIM_616973-HP_0000006-GENCC_100001"	"HGNC:4396"	"GNB1"	"MONDO:0014855"	"intellectual disability, autosomal dominant 42"	"OMIM:616973"	"Intellectual developmental disorder, autosomal dominant 42"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4396"	"GNB1"	"OMIM:616973"	"Intellectual developmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2023-03-13 00:00:00"	""	""	"27108799, 28087732, 30194818, 36405774"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202312"	"2023-06-30"
"GENCC_000105-HGNC_29077-MONDO_0100509-HP_0000007-GENCC_100001"	"HGNC:29077"	"IFT140"	"MONDO:0100509"	"IFT140-related recessive ciliopathy"	"MONDO:0100509"	"IFT140-related recessive ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:29077"	"IFT140"	"MONDO:0100509"	"IFT140-related recessive ciliopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-05-04 00:00:00"	""	""	"22503633, 26216056, 30479745, 31034313"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"2906202313"	"2023-06-30"
"GENCC_000105-HGNC_19181-MONDO_0016660-HP_0000007-GENCC_100001"	"HGNC:19181"	"KIF14"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:19181"	"KIF14"	"MONDO:0016660"	"Autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2023-04-03 00:00:00"	""	""	"24128419, 28892560, 30388224, 32430361"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202314"	"2023-06-30"
"GENCC_000105-HGNC_7133-MONDO_0035651-HP_0000006-GENCC_100003"	"HGNC:7133"	"KMT2D"	"MONDO:0035651"	"choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"	"MONDO:0035651"	"choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7133"	"KMT2D"	"MONDO:0035651"	"choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-05-10 00:00:00"	""	""	"31949313, 34136434, 575, 32083401, 27991736, 35060672, 34369642"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202315"	"2023-06-30"
"GENCC_000105-HGNC_33702-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:33702"	"MICOS13"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:33702"	"MICOS13"	"MONDO:0044970"	"Primary mitochondrial disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2023-03-21 00:00:00"	""	""	"25997101, 27485409, 27623147, 29618761, 32749073, 33340416"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202316"	"2023-06-30"
"GENCC_000105-HGNC_7415-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:7415"	"MT-ATP8"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:7415"	"MT-ATP8"	"MONDO:0044970"	"Primary mitochondrial disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2021-03-14 00:00:00"	""	""	"24153443, 23735083, 32858252, 22919063, 19759059, 27977873"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"2906202317"	"2023-06-30"
"GENCC_000105-HGNC_7576-OMIM_614098-HP_0000006-GENCC_100003"	"HGNC:7576"	"MYH6"	"MONDO:0013572"	"Keppen-Lubinsky syndrome"	"OMIM:614098"	"Keppen-Lubinsky syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7576"	"MYH6"	"OMIM:614098"	"Atrial septal defect 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-12-19 00:00:00"	""	""	"2024777, 10861362, 15735645, 19538634, 20656787, 22194935, 22337856, 25613900, 29505555, 29536580, 29969989, 31638415, 34298581, 34481090"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202318"	"2023-06-30"
"GENCC_000105-HGNC_19918-OMIM_618317-HP_0000007-GENCC_100001"	"HGNC:19918"	"MYORG"	"MONDO:0032673"	"basal ganglia calcification, idiopathic, 7, autosomal recessive"	"OMIM:618317"	"Basal ganglia calcification, idiopathic, 7, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:19918"	"MYORG"	"OMIM:618317"	"Basal ganglia calcification, idiopathic, 7, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2023-04-28 00:00:00"	""	""	"29910000, 31009047, 31951047, 32211515, 35870928"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202319"	"2023-06-30"
"GENCC_000105-HGNC_26274-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:26274"	"NARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:26274"	"NARS2"	"MONDO:0044970"	"Primary mitochondrial disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2019-12-04 00:00:00"	""	""	"25807530, 26402642, 31967322, 32488467, 29980628"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202320"	"2023-06-30"
"GENCC_000105-HGNC_7881-MONDO_0007034-HP_0000006-GENCC_100001"	"HGNC:7881"	"NOTCH1"	"MONDO:0007034"	"Adams-Oliver syndrome"	"MONDO:0007034"	"Adams-Oliver syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:7881"	"NOTCH1"	"MONDO:0007034"	"Adams-Oliver syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-01-19 00:00:00"	""	""	"16025100, 18593716, 26820064, 25132448, 29924900, 10837027"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"2906202321"	"2023-06-30"
"GENCC_000105-HGNC_30386-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:30386"	"SCAMP5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:30386"	"SCAMP5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2023-06-08 00:00:00"	""	""	"11050114, 29562188, 31439720, 33390987"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202322"	"2023-06-30"
"GENCC_000105-HGNC_11276-MONDO_0010848-HP_0000006-GENCC_100002"	"HGNC:11276"	"SPTBN2"	"MONDO:0010848"	"spinocerebellar ataxia type 5"	"MONDO:0010848"	"spinocerebellar ataxia type 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:11276"	"SPTBN2"	"MONDO:0010848"	"Spinocerebellar ataxia type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-03-19 00:00:00"	""	""	"16429157, 22914369, 25981959, 29795474, 31721007, 31066025, 20371805, 20368622"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202323"	"2023-06-30"
"GENCC_000105-HGNC_20774-MONDO_0012905-HP_0000006-GENCC_100001"	"HGNC:20774"	"TUBB4A"	"MONDO:0012905"	"hypomyelinating leukodystrophy 6"	"MONDO:0012905"	"hypomyelinating leukodystrophy 6"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:20774"	"TUBB4A"	"MONDO:0012905"	"Hypomyelinating Leukodystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-04-07 00:00:00"	""	""	"23582646, 25545912, 23424103, 24742798, 32463361, 28393430"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"2906202324"	"2023-06-30"
"GENCC_000105-HGNC_12855-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:12855"	"YWHAZ"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:12855"	"YWHAZ"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2023-02-17 00:00:00"	""	""	"22124272, 23999528, 29075177, 31024343, 35143101, 35501409, 36001342"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"2906202325"	"2023-06-30"
"GENCC_000105-HGNC_694-MONDO_0019200-HP_0000006-GENCC_100004"	"HGNC:694"	"ARL3"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:694"	"ARL3"	"MONDO:0019200"	"Retinitis pigmentosa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2023-09-15 00:00:00"	""	""	"26964041, 33598457, 34485303"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"1909202318"	"2023-09-14"
"GENCC_000105-HGNC_6898-OMIM_619692-HP_0000007-GENCC_100004"	"HGNC:6898"	"MARS1"	"MONDO:0030518"	"trichothiodystrophy 9, nonphotosensitive"	"OMIM:619692"	"?Trichothiodystrophy 9, nonphotosensitive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:6898"	"MARS1"	"OMIM:619692"	"Non-photosensitive trichothiodystrophy "	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2023-09-15 00:00:00"	""	""	"33909043"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"2009202304"	"2023-09-20"
"GENCC_000105-HGNC_30213-MONDO_0011706-HP_0000007-GENCC_100001"	"HGNC:30213"	"ATP13A2"	"MONDO:0011706"	"Kufor-Rakeb syndrome"	"MONDO:0011706"	"Kufor-Rakeb syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:30213"	"ATP13A2"	"MONDO:0011706"	"Kufor-Rakeb syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2019-12-19 00:00:00"	""	""	"16964263, 21094623, 21696388, 20310007, 26421390, 28137957, 1696423, 21362476, 22442086"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"1909202301"	"2023-09-14"
"GENCC_000105-HGNC_1394-OMIM_618087-HP_0000006-GENCC_100001"	"HGNC:1394"	"CACNA1G"	"MONDO:0060758"	"spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	"OMIM:618087"	"Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1394"	"CACNA1G"	"OMIM:618087"	"Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-01-21 00:00:00"	""	""	"26456284, 31229688, 29878067"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"1909202302"	"2023-09-14"
"GENCC_000105-HGNC_1514-OMIM_145980-HP_0000006-GENCC_100001"	"HGNC:1514"	"CASR"	"MONDO:0007791"	"familial hypocalciuric hypercalcemia 1"	"OMIM:145980"	"Hypocalciuric hypercalcemia, type I"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1514"	"CASR"	"OMIM:145980"	"Hypocalciuric hypercalcemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-12-08 00:00:00"	""	""	"7726161, 8675635, 9011580, 10843194, 23966241, 26963950, 34169121, 7493018"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"1909202304"	"2023-09-14"
"GENCC_000105-HGNC_1748-OMIM_119580-HP_0000006-GENCC_100001"	"HGNC:1748"	"CDH1"	"MONDO:0054740"	"blepharocheilodontic syndrome 1"	"OMIM:119580"	"Blepharocheilodontic syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:1748"	"CDH1"	"OMIM:119580"	"Blepharocheilodontic syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-04-09 00:00:00"	""	""	"24793288, 0, 26123647, 15831593"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"1909202305"	"2023-09-14"
"GENCC_000105-HGNC_2528-MONDO_0019287-HP_0000007-GENCC_100002"	"HGNC:2528"	"CTSC"	"MONDO:0019287"	"ectodermal dysplasia syndrome"	"MONDO:0019287"	"ectodermal dysplasia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2528"	"CTSC"	"MONDO:0019287"	"Ectodermal dysplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2020-12-15 00:00:00"	""	""	"11886537, 18294227, 20534088"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"1909202306"	"2023-09-14"
"GENCC_000105-HGNC_2911-MONDO_0010717-HP_0000007-GENCC_100008"	"HGNC:2911"	"DLST"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"MONDO:0010717"	"pyruvate dehydrogenase E1-alpha deficiency"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:2911"	"DLST"	"MONDO:0010717"	"alpha-ketoglutarate dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100008"	"No Known Disease Relationship"	"2023-06-09 00:00:00"	""	""	"25697682, 36520152"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"1909202307"	"2023-09-14"
"GENCC_000105-HGNC_3363-OMIM_615683-HP_0000007-GENCC_100004"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"OMIM:615683"	"Spastic paraplegia 64, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000105"	"Illumina"	"HGNC:3363"	"ENTPD1"	"OMIM:615683"	"Spastic paraplegia 64, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100004"	"Limited"	"2020-09-14 00:00:00"	""	""	"2448247, 30652007, 19922813"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"1909202308"	"2023-09-14"
"GENCC_000105-HGNC_4237-MONDO_0018542-HP_0000006-GENCC_100003"	"HGNC:4237"	"GFI1"	"MONDO:0018542"	"severe congenital neutropenia"	"MONDO:0018542"	"severe congenital neutropenia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:4237"	"GFI1"	"MONDO:0018542"	"Severe congenital neutropenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2023-07-19 00:00:00"	""	""	"11810106, 12530980, 12778173, 16500901, 19775295, 20560965, 32066420, 36112213"	"https://clinicalgenome.org/site/assets/files/5391/version_9_gene_curation_sop_final2.pdf"	"1909202309"	"2023-09-14"
"GENCC_000105-HGNC_5358-MONDO_0013957-HP_0000006-GENCC_100002"	"HGNC:5358"	"IRF8"	"MONDO:0013957"	"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"	"MONDO:0013957"	"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:5358"	"IRF8"	"MONDO:0013957"	"IRF8-related immunodeficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100002"	"Strong"	"2021-07-30 00:00:00"	""	""	"21524210, 26843324, 23623495"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"1909202310"	"2023-09-14"
"GENCC_000105-HGNC_16400-MONDO_0016168-HP_0000006-GENCC_100001"	"HGNC:16400"	"NLRP3"	"MONDO:0016168"	"cryopyrin-associated periodic syndrome"	"MONDO:0016168"	"cryopyrin-associated periodic syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:16400"	"NLRP3"	"MONDO:0016168"	"Cryopyrin-associated periodic syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2022-01-14 00:00:00"	""	""	"11992256, 12032915, 18175851, 20131254, 24510061, 31777803, 30772614, 339335466, 31077002"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"1909202312"	"2023-09-14"
"GENCC_000105-HGNC_12974-MONDO_0010495-HP_0001417-GENCC_100003"	"HGNC:12974"	"RNF113A"	"MONDO:0010495"	"trichothiodystrophy 5, nonphotosensitive"	"MONDO:0010495"	"trichothiodystrophy 5, nonphotosensitive"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000105"	"Illumina"	"HGNC:12974"	"RNF113A"	"MONDO:0010495"	"Trichothiodystrophy 5, nonphotosensitive"	"HP:0001417"	"X-linked inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100003"	"Moderate"	"2022-04-15 00:00:00"	""	""	"25612912, 31880405, 31793730, 15256591, 24026126"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"1909202313"	"2023-09-14"
"GENCC_000105-HGNC_18398-MONDO_0019287-HP_0000006-GENCC_100001"	"HGNC:18398"	"SMARCAD1"	"MONDO:0019287"	"ectodermal dysplasia syndrome"	"MONDO:0019287"	"ectodermal dysplasia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:18398"	"SMARCAD1"	"MONDO:0019287"	"Ectodermal dysplasia syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2021-08-03 00:00:00"	""	""	"29409814, 24909267, 30289605, 26932190"	"https://clinicalgenome.org/site/assets/files/8170/gene_curation_sop_pdf.pdf"	"1909202314"	"2023-09-14"
"GENCC_000105-HGNC_20778-MONDO_0100154-HP_0000006-GENCC_100001"	"HGNC:20778"	"TUBB"	"MONDO:0100154"	"TUBB3-related tubulinopathy"	"MONDO:0100154"	"TUBB3-related tubulinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000105"	"Illumina"	"HGNC:20778"	"TUBB"	"MONDO:0100154"	"TUBB-related tubulinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000105"	"Illumina"	"GENCC:100001"	"Definitive"	"2020-05-05 00:00:00"	""	""	"23246003, 26637975, 32085672"	"https://clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf"	"1909202316"	"2023-09-14"
"GENCC_000106-HGNC_18025-OMIM_616501-HP_0000005-GENCC_100002"	"HGNC:18025"	"COA6"	"MONDO:0014668"	"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4"	"OMIM:616501"	"Mitochondrial complex IV deficiency, nuclear type 13"	"GENCC:100002"	"Strong"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18025"	"COA6"	"OMIM:616501"	"Mitochondrial complex IV deficiency, nuclear type 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"22277967, 24549041, 2595673, 25959673, 26160915, 26669719"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COA60Cardioen"	"2023-11-30"
"GENCC_000106-HGNC_20-OMIM_619691-HP_0000005-GENCC_100004"	"HGNC:20"	"AARS1"	"MONDO:0030517"	"trichothiodystrophy 8, nonphotosensitive"	"OMIM:619691"	"Trichothiodystrophy 8, nonphotosensitive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20"	"AARS1"	"OMIM:619691"	"trichothiodystrophy 8, nonphotosensitive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-27 13:09:07"	""	""	"33909043"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AARS0NphTrich"	"2023-11-30"
"GENCC_000106-HGNC_21022-OMIM_615889-HP_0000007-GENCC_100002"	"HGNC:21022"	"AARS2"	"MONDO:0014387"	"leukoencephalopathy, progressive, with ovarian failure"	"OMIM:615889"	"Leukoencephalopathy, progressive, with ovarian failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21022"	"AARS2"	"OMIM:615889"	"leukoencephalopathy, progressive, with ovarian failure"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-16 21:20:11"	""	""	"24808023, 27749956"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AARS20Leukoeneph"	"2023-11-30"
"GENCC_000106-HGNC_21022-OMIM_614096-HP_0000007-GENCC_100002"	"HGNC:21022"	"AARS2"	"MONDO:0013570"	"combined oxidative phosphorylation defect type 8"	"OMIM:614096"	"Combined oxidative phosphorylation deficiency 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21022"	"AARS2"	"OMIM:614096"	"combined oxidative phosphorylation defect type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"21549344, 25058219, 29440775, 30285085, 30819764"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AARS20OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_14637-OMIM_601277-HP_0000007-GENCC_100002"	"HGNC:14637"	"ABCA12"	"MONDO:0011026"	"autosomal recessive congenital ichthyosis 4A"	"OMIM:601277"	"Ichthyosis, congenital, autosomal recessive 4A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14637"	"ABCA12"	"OMIM:601277"	"autosomal recessive congenital ichthyosis 4A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-29 21:09:30"	""	""	"16007253, 16902423, 20672373"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA120Ichthyos"	"2023-11-30"
"GENCC_000106-HGNC_32-OMIM_618808-HP_0000007-GENCC_100002"	"HGNC:32"	"ABCA2"	"MONDO:0032930"	"intellectual developmental disorder with poor growth and with or without seizures or ataxia"	"OMIM:618808"	"Intellectual developmental disorder with poor growth and with or without seizures or ataxia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32"	"ABCA2"	"OMIM:618808"	"intellectual developmental disorder with poor growth and with or without seizures or ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-20 19:44:14"	""	""	"17060448, 17488728, 29302074, 30237576, 31047799"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA20ABCA2rel"	"2023-11-30"
"GENCC_000106-HGNC_33-OMIM_610921-HP_0000007-GENCC_100002"	"HGNC:33"	"ABCA3"	"MONDO:0012582"	"interstitial lung disease due to ABCA3 deficiency"	"OMIM:610921"	"Surfactant metabolism dysfunction, pulmonary, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:33"	"ABCA3"	"OMIM:610921"	"interstitial lung disease due to ABCA3 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 21:14:45"	""	""	"15044640, 24730976, 27516224, 35342051"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA30Surfacta03"	"2023-11-30"
"GENCC_000106-HGNC_34-OMIM_604116-HP_0000007-GENCC_100002"	"HGNC:34"	"ABCA4"	"MONDO:0011395"	"cone-rod dystrophy 3"	"OMIM:604116"	"Cone-rod dystrophy 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:34"	"ABCA4"	"OMIM:604116"	"cone-rod dystrophy 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 10:58:45"	""	""	"10958761, 12796258, 17270046, 26780318"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA40ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_34-OMIM_601718-HP_0000007-GENCC_100002"	"HGNC:34"	"ABCA4"	"MONDO:0011137"	"retinitis pigmentosa 19"	"OMIM:601718"	"Retinitis pigmentosa 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:34"	"ABCA4"	"OMIM:601718"	"Retinitis pigmentosa 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 09:24:43"	""	""	"18332312, 20301590, 24938718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA40RP"	"2023-11-30"
"GENCC_000106-HGNC_34-OMIM_248200-HP_0000007-GENCC_100002"	"HGNC:34"	"ABCA4"	"MONDO:0009549"	"severe early-childhood-onset retinal dystrophy"	"OMIM:248200"	"Stargardt disease 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:34"	"ABCA4"	"OMIM:248200"	"severe early-childhood-onset retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-12 21:38:38"	""	""	"21510770, 25312043, 26780318, 28327576, 28446513, 32278709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA40StargardtDis"	"2023-11-30"
"GENCC_000106-HGNC_42-OMIM_601847-HP_0000007-GENCC_100002"	"HGNC:42"	"ABCB11"	"MONDO:0011156"	"progressive familial intrahepatic cholestasis type 2"	"OMIM:601847"	"Cholestasis, progressive familial intrahepatic 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:42"	"ABCB11"	"OMIM:601847"	"progressive familial intrahepatic cholestasis type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-04 14:23:48"	""	""	"15300568, 16039748, 19101985"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCB110Cholesta02"	"2023-11-30"
"GENCC_000106-HGNC_42-OMIM_605479-HP_0000007-GENCC_100002"	"HGNC:42"	"ABCB11"	"MONDO:0011559"	"benign recurrent intrahepatic cholestasis type 2"	"OMIM:605479"	"Cholestasis, benign recurrent intrahepatic, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:42"	"ABCB11"	"OMIM:605479"	"Cholestasis, benign recurrent intrahepatic, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-25 09:54:44"	""	""	"11172067, 12062085, 14672610, 15300568, 15791618, 17947449, 18395098, 19133130, 20232290, 9806540"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCB110Cholestasis"	"2023-11-30"
"GENCC_000106-HGNC_45-OMIM_600803-HP_0000006-GENCC_100002"	"HGNC:45"	"ABCB4"	"MONDO:0010939"	"low phospholipid associated cholelithiasis"	"OMIM:600803"	"Gallbladder disease 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:45"	"ABCB4"	"OMIM:600803"	"low phospholipid associated cholelithiasis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-17 09:09:07"	""	""	"12671900, 15077010, 20422496, 31538484, 32581362"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCB40Cholesta05"	"2023-11-30"
"GENCC_000106-HGNC_45-OMIM_602347-HP_0000007-GENCC_100002"	"HGNC:45"	"ABCB4"	"MONDO:0011214"	"progressive familial intrahepatic cholestasis type 3"	"OMIM:602347"	"Cholestasis, progressive familial intrahepatic 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:45"	"ABCB4"	"OMIM:602347"	"Cholestasis, progressive familial intrahepatic 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-17 20:21:22"	""	""	"17726488, 25755532"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCB40Cholesta07"	"2023-11-30"
"GENCC_000106-HGNC_47-OMIM_615402-HP_0000006-GENCC_100004"	"HGNC:47"	"ABCB6"	"MONDO:0014169"	"dyschromatosis universalis hereditaria 3"	"OMIM:615402"	"Dyschromatosis universalis hereditaria 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:47"	"ABCB6"	"OMIM:615402"	"Dyschromatosis universalis hereditaria 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 11:32:01"	""	""	"23519333, 24224009, 24498303, 25288164, 26712430, 30430618"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCB60DUH"	"2023-11-30"
"GENCC_000106-HGNC_47-OMIM_614497-HP_0000006-GENCC_100004"	"HGNC:47"	"ABCB6"	"MONDO:0013783"	"microphthalmia, isolated, with coloboma 7"	"OMIM:614497"	"Microphthalmia/coloboma 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:47"	"ABCB6"	"OMIM:614497"	"microphthalmia, isolated, with coloboma 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"22226084, 27391121, 30653986"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCB60Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_51-OMIM_618915-HP_0000005-GENCC_100004"	"HGNC:51"	"ABCC1"	"MONDO:0030058"	"hearing loss, autosomal dominant 77"	"OMIM:618915"	"?Deafness, autosomal dominant 77"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:51"	"ABCC1"	"OMIM:618915"	"hearing loss, autosomal dominant 77"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-06-22 09:22:38"	""	""	"30029678, 31273342, 31448785"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC10ABCC1rel"	"2023-11-30"
"GENCC_000106-HGNC_59-OMIM_610374-HP_0000006-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0012480"	"diabetes mellitus, transient neonatal, 2"	"OMIM:610374"	"Diabetes mellitus, transient neonatal 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:59"	"ABCC8"	"OMIM:610374"	"diabetes mellitus, transient neonatal, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 10:14:27"	""	""	"16885549, 17317760, 17446535, 17668386, 17919176, 19933268, 20810569, 20922570, 21109997, 21544516, 21989597, 22562119, 27849623, 30191644"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC80ABCC8EOD"	"2023-11-30"
"GENCC_000106-HGNC_59-OMIM_618857-HP_0000007-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0030088"	"diabetes mellitus, permanent neonatal 3"	"OMIM:618857"	"Diabetes mellitus, permanent neonatal 3, with or without neurologic features"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:59"	"ABCC8"	"OMIM:618857"	"diabetes mellitus, permanent neonatal 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-25 19:09:07"	""	""	"14715863, 17668386, 17919176, 20810569, 22562119, 23771172, 25972930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC80ABCC8EOD02"	"2023-11-30"
"GENCC_000106-HGNC_59-OMIM_125853-HP_0000006-GENCC_100004"	"HGNC:59"	"ABCC8"	"MONDO:0005148"	"type 2 diabetes mellitus"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:59"	"ABCC8"	"OMIM:125853"	"diabetes mellitus, noninsulin-dependent"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-19 08:37:12"	""	""	"12524541, 18346985, 21214702, 23926410, 24959012, 25048417, 27167055, 27810688, 29112131, 29207974, 31264968, 31479591, 31658956, 8635661, 9075812, 9519757"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC80DiabetesMell"	"2023-11-30"
"GENCC_000106-HGNC_59-OMIM_256450-HP_0000006-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"OMIM:256450"	"Hyperinsulinemic hypoglycemia, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:59"	"ABCC8"	"OMIM:256450"	"hyperinsulinemic hypoglycemia, familial, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-26 14:47:34"	""	""	"11018078, 12941782, 18596924, 20685672, 21536946, 23275527, 23345197, 256450, 26092864, 31464105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC80HIHfamilial"	"2023-11-30"
"GENCC_000106-HGNC_59-OMIM_256450-HP_0000007-GENCC_100002"	"HGNC:59"	"ABCC8"	"MONDO:0009734"	"hyperinsulinemic hypoglycemia, familial, 1"	"OMIM:256450"	"Hyperinsulinemic hypoglycemia, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:59"	"ABCC8"	"OMIM:256450"	"hyperinsulinemic hypoglycemia, familial, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-26 14:47:34"	""	""	"10334322, 20685672, 23275527, 23345197, 256450, 8923011"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC80HIHfamilial03"	"2023-11-30"
"GENCC_000106-HGNC_60-OMIM_608569-HP_0000006-GENCC_100002"	"HGNC:60"	"ABCC9"	"MONDO:0012062"	"dilated cardiomyopathy 1O"	"OMIM:608569"	"Cardiomyopathy, dilated, 1O"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:60"	"ABCC9"	"OMIM:608569"	"dilated cardiomyopathy 1O"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-07 14:06:20"	""	""	"15034580, 24439875, 24503780, 26899768, 27532257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC90DCM"	"2023-11-30"
"GENCC_000106-HGNC_358-OMIM_102200-HP_0000006-GENCC_100002"	"HGNC:358"	"AIP"	"MONDO:0007052"	"growth hormone secreting pituitary adenoma 1"	"OMIM:102200"	"Pituitary adenoma predisposition"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:358"	"AIP"	"OMIM:102200"	"Pituitary adenoma 1, multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-26 14:02:59"	""	""	"22720333, 23321498, 23371967, 26186299, 29440248, 30630164, 30822274, 31588533, 31996917, 32083999, 32299111, 32604740"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIP0AIPrel"	"2023-11-30"
"GENCC_000106-HGNC_67-OMIM_616278-HP_0000005-GENCC_100004"	"HGNC:67"	"ABCD3"	"MONDO:0014564"	"congenital bile acid synthesis defect 5"	"OMIM:616278"	"?Bile acid synthesis defect, congenital, 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:67"	"ABCD3"	"OMIM:616278"	"congenital bile acid synthesis defect 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:55"	""	""	"10447258, 1301993, 25168382, 30540494, 9199576"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCD30PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_15868-OMIM_612674-HP_0000007-GENCC_100002"	"HGNC:15868"	"ABHD12"	"MONDO:0012984"	"PHARC syndrome"	"OMIM:612674"	"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15868"	"ABHD12"	"OMIM:612674"	"PHARC syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-10 22:20:05"	""	""	"20797687, 22938382, 24027063, 25743180, 26359340, 27890673, 28041643, 28448692, 29571850, 29625443"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABHD120PHARC"	"2023-11-30"
"GENCC_000106-HGNC_13921-OMIM_619735-HP_0000007-GENCC_100002"	"HGNC:13921"	"ABHD16A"	"MONDO:0030673"	"spastic paraplegia 86, autosomal recessive"	"OMIM:619735"	"Spastic paraplegia 86, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13921"	"ABHD16A"	"OMIM:619735"	"spastic paraplegia 86, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 14:34:44"	""	""	"34587489, 34866177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABHD16A0HSP0comp"	"2023-11-30"
"GENCC_000106-HGNC_319-OMIM_608361-HP_0000006-GENCC_100002"	"HGNC:319"	"ACAN"	"MONDO:0012019"	"spondyloepiphyseal dysplasia, Kimberley type"	"OMIM:608361"	"?Spondyloepiphyseal dysplasia, Kimberley type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:319"	"ACAN"	"OMIM:608361"	"spondyloepiphyseal dysplasia, Kimberley type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-15 13:53:17"	""	""	"16080123, 24762113, 27870580, 9192671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACAN0ShortStature"	"2023-11-30"
"GENCC_000106-HGNC_16066-OMIM_617762-HP_0000005-GENCC_100004"	"HGNC:16066"	"ACER3"	"MONDO:0044718"	"alkaline ceramidase 3 deficiency"	"OMIM:617762"	"?Leukodystrophy, progressive, early childhood-onset"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16066"	"ACER3"	"OMIM:617762"	"alkaline ceramidase 3 deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 09:51:47"	""	""	"26792856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACER30Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_23692-OMIM_619215-HP_0000005-GENCC_100004"	"HGNC:23692"	"ACKR3"	"MONDO:0030976"	"oculomotor-abducens synkinesis"	"OMIM:619215"	"?Oculomotor-abducens synkinesis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23692"	"ACKR3"	"OMIM:619215"	"?Oculomotor-abducens synkinesis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-10 19:45:05"	""	""	"31211835"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACKR30ACKR3rel"	"2023-11-30"
"GENCC_000106-HGNC_118-OMIM_614559-HP_0000007-GENCC_100002"	"HGNC:118"	"ACO2"	"MONDO:0013802"	"infantile cerebellar-retinal degeneration"	"OMIM:614559"	"Infantile cerebellar-retinal degeneration"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:118"	"ACO2"	"OMIM:614559"	"infantile cerebellar-retinal degeneration"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-25 14:05:41"	""	""	"22405087, 229564393, 25351951, 30689204, 32519519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACO20INFCRD"	"2023-11-30"
"GENCC_000106-HGNC_118-OMIM_616289-HP_0000005-GENCC_100004"	"HGNC:118"	"ACO2"	"MONDO:0014571"	"optic atrophy 9"	"OMIM:616289"	"Optic atrophy 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:118"	"ACO2"	"OMIM:616289"	"optic atrophy 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-06-16 09:06:13"	""	""	"25351951, 28559085, 30118607, 31509793, 32449285, 33028849"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACO20OpticAtroph"	"2023-11-30"
"GENCC_000106-HGNC_1228-OMIM_106100-HP_0000006-GENCC_100002"	"HGNC:1228"	"SERPING1"	"MONDO:0033946"	"hereditary angioedema with C1Inh deficiency"	"OMIM:106100"	"Angioedema, hereditary, 1 and 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1228"	"SERPING1"	"OMIM:106100"	"Angioedema, hereditary, 1 and 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 11:01:03"	""	""	"106100, 11112899, 24456027"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPING10Angioedema"	"2023-11-30"
"GENCC_000106-HGNC_603-OMIM_615558-HP_0000007-GENCC_100002"	"HGNC:603"	"APOB"	"MONDO:0014252"	"familial hypobetalipoproteinemia 1"	"OMIM:615558"	"Hypobetalipoproteinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:603"	"APOB"	"OMIM:615558"	"Hypobetalipoproteinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-06 11:20:54"	""	""	"24288038"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOB0Hypobetalipopro02"	"2023-11-30"
"GENCC_000106-HGNC_129-OMIM_620278-HP_0000006-GENCC_100002"	"HGNC:129"	"ACTA1"	"MONDO:0859523"	"congenital myopathy 2c, severe infantile, autosomal dominant"	"OMIM:620278"	"Congenital myopathy 2C, severe infantile, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:129"	"ACTA1"	"OMIM:620278"	"Congenital myopathy 2C, severe infantile, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 17:33:38"	""	""	"10601317, 15236405, 15468086, 1738773, 17387733, 19206168, 19562689"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTA10CFTD0CongFiber"	"2023-11-30"
"GENCC_000106-HGNC_129-OMIM_161800-HP_0000006-GENCC_100002"	"HGNC:129"	"ACTA1"	"MONDO:0008070"	"congenital myopathy 2a, typical, autosomal dominant"	"OMIM:161800"	"Congenital myopathy 2A, typical, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:129"	"ACTA1"	"OMIM:161800"	"congenital myopathy with excess of thin filaments"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 10:35:47"	""	""	"11333380, 11558787, 15198992, 15236405, 17227580, 19562689, 20621480"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTA10NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_130-OMIM_613834-HP_0000006-GENCC_100002"	"HGNC:130"	"ACTA2"	"MONDO:0013452"	"multisystemic smooth muscle dysfunction syndrome"	"OMIM:613834"	"Smooth muscle dysfunction syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:130"	"ACTA2"	"OMIM:613834"	"multisystemic smooth muscle dysfunction syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-12 20:54:56"	""	""	"20734336, 22831780, 26153420, 27551047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTA20SmoothMusclDys"	"2023-11-30"
"GENCC_000106-HGNC_130-OMIM_611788-HP_0000006-GENCC_100002"	"HGNC:130"	"ACTA2"	"MONDO:0012730"	"aortic aneurysm, familial thoracic 6"	"OMIM:611788"	"Aortic aneurysm, familial thoracic 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:130"	"ACTA2"	"OMIM:611788"	"aortic aneurysm, familial thoracic 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-21 21:46:04"	""	""	"17994018, 21212136, 21937134, 26153420, 27551047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTA20TAAD"	"2023-11-30"
"GENCC_000106-HGNC_132-OMIM_243310-HP_0000006-GENCC_100002"	"HGNC:132"	"ACTB"	"MONDO:0009470"	"Baraitser-Winter syndrome 1"	"OMIM:243310"	"Baraitser-Winter syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:132"	"ACTB"	"OMIM:243310"	"Baraitser-Winter syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-05 10:18:55"	""	""	"22366783, 23649928, 25052316, 327153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTB0Baraitser"	"2023-11-30"
"GENCC_000106-HGNC_132-OMIM_607371-HP_0000006-GENCC_100002"	"HGNC:132"	"ACTB"	"MONDO:0011823"	"developmental malformations-deafness-dystonia syndrome"	"OMIM:607371"	"Dystonia-deafness syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:132"	"ACTB"	"OMIM:607371"	"developmental malformations-deafness-dystonia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-21 21:07:06"	""	""	"16685646, 25255767, 27862284, 28487785, 29788902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTB0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_11947-OMIM_115210-HP_0000006-GENCC_100002"	"HGNC:11947"	"TNNI3"	"MONDO:0007270"	"cardiomyopathy, familial restrictive, 1"	"OMIM:115210"	"Cardiomyopathy, familial restrictive, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11947"	"TNNI3"	"OMIM:115210"	"Cardiomyopathy, familial restrictive, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 11:20:58"	""	""	"12531876, 17027633"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RCM0TNNI3"	"2023-11-30"
"GENCC_000106-HGNC_143-OMIM_612098-HP_0000006-GENCC_100002"	"HGNC:143"	"ACTC1"	"MONDO:0012799"	"hypertrophic cardiomyopathy 11"	"OMIM:612098"	"Cardiomyopathy, hypertrophic, 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:143"	"ACTC1"	"OMIM:612098"	"hypertrophic cardiomyopathy 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-11 07:15:07"	""	""	"10330430, 10966831, 17611253, 19799913, 21524215, 23604709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTC10HCM"	"2023-11-30"
"GENCC_000106-HGNC_2211-OMIM_254090-HP_0000007-GENCC_100002"	"HGNC:2211"	"COL6A1"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2211"	"COL6A1"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-24 16:13:04"	""	""	"17886299, 19884007, 20976770, 21280092, 24038877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL6A10TypeVICollagen"	"2023-11-30"
"GENCC_000106-HGNC_144-OMIM_614583-HP_0000006-GENCC_100002"	"HGNC:144"	"ACTG1"	"MONDO:0013812"	"Baraitser-winter syndrome 2"	"OMIM:614583"	"Baraitser-Winter syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:144"	"ACTG1"	"OMIM:614583"	"Baraitser-winter syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-23 16:37:00"	""	""	"16950128, 19497859, 22366783, 25052316, 327153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTG10Baraitser"	"2023-11-30"
"GENCC_000106-HGNC_144-OMIM_604717-HP_0000006-GENCC_100002"	"HGNC:144"	"ACTG1"	"MONDO:0011480"	"autosomal dominant nonsyndromic hearing loss 20"	"OMIM:604717"	"Deafness, autosomal dominant 20/26"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:144"	"ACTG1"	"OMIM:604717"	"autosomal dominant nonsyndromic hearing loss 20"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-30 11:56:26"	""	""	"13680526, 16773128, 19419963, 22718764, 27068579, 27463135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTG10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_160-OMIM_618468-HP_0000007-GENCC_100002"	"HGNC:160"	"ACTL6B"	"MONDO:0032768"	"developmental and epileptic encephalopathy, 76"	"OMIM:618468"	"Developmental and epileptic encephalopathy 76"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:160"	"ACTL6B"	"OMIM:618468"	"developmental and epileptic encephalopathy, 76"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-28 14:55:26"	""	""	"26539891, 27171548, 28628100, 31031012"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTL6B0DECAM"	"2023-11-30"
"GENCC_000106-HGNC_164-OMIM_612158-HP_0000006-GENCC_100004"	"HGNC:164"	"ACTN2"	"MONDO:0012808"	"dilated cardiomyopathy 1AA"	"OMIM:612158"	"Cardiomyopathy, dilated, 1AA, with or without LVNC"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:164"	"ACTN2"	"OMIM:612158"	"dilated cardiomyopathy 1AA"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-07 20:04:59"	""	""	"14567970, 20474083, 24503780, 31737537, 31983221, 32880476"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTN20DCM"	"2023-11-30"
"GENCC_000106-HGNC_164-OMIM_618655-HP_0000005-GENCC_100004"	"HGNC:164"	"ACTN2"	"MONDO:0032853"	"myopathy, distal, 6, adult-onset, autosomal dominant"	"OMIM:618655"	"Myopathy, distal, 6, adult onset"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:164"	"ACTN2"	"OMIM:618655"	"Myopathy, distal, 6, adult onset"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 09:53:14"	""	""	"30900782"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTN20DistMyo"	"2023-11-30"
"GENCC_000106-HGNC_164-OMIM_618654-HP_0000006-GENCC_100002"	"HGNC:164"	"ACTN2"	"MONDO:0032852"	"myopathy, congenital, with structured cores and z-line abnormalities"	"OMIM:618654"	"Congenital myopathy 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:164"	"ACTN2"	"OMIM:618654"	"myopathy, congenital, with structured cores and z-line abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-15 12:10:36"	""	""	"30701273"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTN20MyoStructCores"	"2023-11-30"
"GENCC_000106-HGNC_1839-OMIM_615688-HP_0000007-GENCC_100002"	"HGNC:1839"	"ADA2"	"MONDO:0014306"	"vasculitis due to ADA2 deficiency"	"OMIM:615688"	"Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1839"	"ADA2"	"OMIM:615688"	"vasculitis due to ADA2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-20 18:05:37"	""	""	"24552284, 24552285, 29951947"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADA20DADA2def"	"2023-11-30"
"GENCC_000106-HGNC_201-OMIM_617933-HP_0000005-GENCC_100004"	"HGNC:201"	"ADAM22"	"MONDO:0033370"	"developmental and epileptic encephalopathy, 61"	"OMIM:617933"	"Developmental and epileptic encephalopathy 61"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:201"	"ADAM22"	"OMIM:617933"	"developmental and epileptic encephalopathy, 61"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-20 20:26:36"	""	""	"15876356, 27066583, 29358191, 30237576"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAM220Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_17111-OMIM_620067-HP_0000007-GENCC_100002"	"HGNC:17111"	"ADAMTS19"	"MONDO:0859572"	"cardiac valvular dysplasia 2"	"OMIM:620067"	"Cardiac valvular dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17111"	"ADAMTS19"	"OMIM:620067"	"Cardiac valvular dysplasia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 12:14:27"	""	""	"136262, 31844321, 32323311"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTS190ValveDefects"	"2023-11-30"
"GENCC_000106-HGNC_19706-OMIM_225200-HP_0000007-GENCC_100002"	"HGNC:19706"	"ADAMTSL4"	"MONDO:0009153"	"ectopia lentis et pupillae"	"OMIM:225200"	"Ectopia lentis et pupillae"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19706"	"ADAMTSL4"	"OMIM:225200"	"ectopia lentis et pupillae"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-28 13:33:57"	""	""	"19200529, 20564469, 22736615, 25975359, 28642162"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADAMTSL40EctopiaLentis"	"2023-11-30"
"GENCC_000106-HGNC_232-OMIM_610154-HP_0000005-GENCC_100004"	"HGNC:232"	"ADCY1"	"MONDO:0012421"	"autosomal recessive nonsyndromic hearing loss 44"	"OMIM:610154"	"?Deafness, autosomal recessive 44"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:232"	"ADCY1"	"OMIM:610154"	"autosomal recessive nonsyndromic hearing loss 44"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:50"	""	""	"24482543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADCY10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_236-OMIM_619651-HP_0000007-GENCC_100002"	"HGNC:236"	"ADCY5"	"MONDO:0859211"	"neurodevelopmental disorder with hyperkinetic movements and dyskinesia"	"OMIM:619651"	"Neurodevelopmental disorder with hyperkinetic movements and dyskinesia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:236"	"ADCY5"	"OMIM:619651"	"Neurodevelopmental disorder with hyperkinetic movements and dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:24:03"	""	""	"28971144, 30975617, 33704598, 34631954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADCY50Dystonia0Syndr"	"2023-11-30"
"GENCC_000106-HGNC_245-OMIM_617008-HP_0000007-GENCC_100002"	"HGNC:245"	"ADD3"	"MONDO:0014862"	"cerebral palsy, spastic quadriplegic, 3"	"OMIM:617008"	"Cerebral palsy, spastic quadriplegic, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:245"	"ADD3"	"OMIM:617008"	"cerebral palsy, spastic quadriplegic, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 08:19:26"	""	""	"23836506, 28492530, 29768408, 30369941, 36046955"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADD30Cerebral"	"2023-11-30"
"GENCC_000106-HGNC_4512-OMIM_606854-HP_0000007-GENCC_100002"	"HGNC:4512"	"ADGRG1"	"MONDO:0011738"	"bilateral frontoparietal polymicrogyria"	"OMIM:606854"	"Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4512"	"ADGRG1"	"OMIM:606854"	"bilateral frontoparietal polymicrogyria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-30 19:25:57"	""	""	"15044805, 16240336, 18509043, 19016831, 20929962"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADGRG10Polymicrogyria"	"2023-11-30"
"GENCC_000106-HGNC_17416-OMIM_605472-HP_0000007-GENCC_100002"	"HGNC:17416"	"ADGRV1"	"MONDO:0011558"	"Usher syndrome type 2C"	"OMIM:605472"	"Usher syndrome, type IIC, GPR98/PDZD7 digenic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17416"	"ADGRV1"	"OMIM:605472"	"Usher syndrome type 2C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-01 19:58:36"	""	""	"14740321, 16775142, 19357116, 19357117, 22135276, 22147658, 23441107, 280396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADGRV10Usher"	"2023-11-30"
"GENCC_000106-HGNC_253-OMIM_619151-HP_0000005-GENCC_100004"	"HGNC:253"	"ADH5"	"MONDO:0030894"	"AMED syndrome, digenic"	"OMIM:619151"	"AMED syndrome, digenic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:253"	"ADH5"	"OMIM:619151"	"AMED syndrome, digenic"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:55"	""	""	"33355142"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADH50ADH5rel"	"2023-11-30"
"GENCC_000106-HGNC_13633-OMIM_615952-HP_0000005-GENCC_100004"	"HGNC:13633"	"ADIPOQ"	"MONDO:0014414"	"STAT3-related early-onset multisystem autoimmune disease"	"OMIM:615952"	"Autoimmune disease, multisystem, infantile-onset, 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13633"	"ADIPOQ"	"OMIM:615952"	"STAT3-related early-onset multisystem autoimmune disease"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-14 13:56:40"	""	""	"10918532, 12068289, 12354786, 12878598, 16326714, 17256056, 18446001, 19178518, 20688759, 22046359, 22474022, 242268, 24432991, 27766312, 282482, 28508493"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADIPOQ0Adiponec"	"2023-11-30"
"GENCC_000106-HGNC_21304-OMIM_618170-HP_0000007-GENCC_100002"	"HGNC:21304"	"ADPRS"	"MONDO:0100095"	"neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"	"OMIM:618170"	"Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21304"	"ADPRS"	"OMIM:618170"	"Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 13:26:39"	""	""	"28333917, 30100084, 30401461, 33528672"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADPRS0ADPRSrel"	"2023-11-30"
"GENCC_000106-HGNC_282-OMIM_607876-HP_0000005-GENCC_100004"	"HGNC:282"	"ADRA2B"	"MONDO:0011930"	"epilepsy, familial adult myoclonic, 2"	"OMIM:607876"	"Epilepsy, familial adult myoclonic, 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:282"	"ADRA2B"	"OMIM:607876"	"Epilepsy, familial adult myoclonic, 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:22"	""	""	"24114805, 31664034"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADRA2B0Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_2211-OMIM_254090-HP_0000006-GENCC_100002"	"HGNC:2211"	"COL6A1"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2211"	"COL6A1"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-24 16:13:04"	""	""	"17886299, 21280092, 24038877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL6A10TypeVICollagen02"	"2023-11-30"
"GENCC_000106-HGNC_6473-OMIM_619297-HP_0000006-GENCC_100002"	"HGNC:6473"	"AFF3"	"MONDO:0851095"	"KINSSHIP syndrome"	"OMIM:619297"	"KINSSHIP syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6473"	"AFF3"	"OMIM:619297"	"KINSSHIP syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 07:16:43"	""	""	"18616733, 24763282, 28135719, 28191890, 28397838, 31388108, 33961779, 36273379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AFF30AFF3rel"	"2023-11-30"
"GENCC_000106-HGNC_315-OMIM_610246-HP_0000006-GENCC_100002"	"HGNC:315"	"AFG3L2"	"MONDO:0012450"	"spinocerebellar ataxia type 28"	"OMIM:610246"	"Spinocerebellar ataxia 28"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:315"	"AFG3L2"	"OMIM:610246"	"spinocerebellar ataxia type 28"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:17"	""	""	"20725928, 23777634, 28444220"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AFG3L20SCA"	"2023-11-30"
"GENCC_000106-HGNC_315-OMIM_614487-HP_0000007-GENCC_100002"	"HGNC:315"	"AFG3L2"	"MONDO:0013776"	"spastic ataxia 5"	"OMIM:614487"	"Spastic ataxia 5, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:315"	"AFG3L2"	"OMIM:614487"	"spastic ataxia 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-27 13:44:44"	""	""	"20725928, 22022284, 23777634, 25401298, 28444220"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AFG3L20SCAR"	"2023-11-30"
"GENCC_000106-HGNC_318-OMIM_208400-HP_0000007-GENCC_100002"	"HGNC:318"	"AGA"	"MONDO:0008830"	"aspartylglucosaminuria"	"OMIM:208400"	"Aspartylglucosaminuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:318"	"AGA"	"OMIM:208400"	"aspartylglucosaminuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-05-31 18:01:32"	""	""	"11309371, 1722323, 7627186, 8457202, 8830180"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGA0Aspartylgluc"	"2023-11-30"
"GENCC_000106-HGNC_21869-OMIM_614691-HP_0000007-GENCC_100004"	"HGNC:21869"	"AGK"	"MONDO:0013859"	"cataract 38"	"OMIM:614691"	"Cataract 38, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21869"	"AGK"	"OMIM:614691"	"Cataract 38, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"22415731, 31980526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGK0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_321-OMIM_232400-HP_0000007-GENCC_100002"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"OMIM:232400"	"Glycogen storage disease IIIb"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:321"	"AGL"	"OMIM:232400"	"glycogen storage disease III"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-18 13:57:18"	""	""	"19299494, 20648714, 8755644"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGL0GSD"	"2023-11-30"
"GENCC_000106-HGNC_2212-OMIM_254090-HP_0000006-GENCC_100002"	"HGNC:2212"	"COL6A2"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2212"	"COL6A2"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-27 08:07:41"	""	""	"17886299, 21280092, 24038877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL6A20TypeVICollagen"	"2023-11-30"
"GENCC_000106-HGNC_2212-OMIM_254090-HP_0000007-GENCC_100002"	"HGNC:2212"	"COL6A2"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2212"	"COL6A2"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-27 08:07:41"	""	""	"19884007, 20976770"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL6A20TypeVICollagen02"	"2023-11-30"
"GENCC_000106-HGNC_329-OMIM_615120-HP_0000007-GENCC_100002"	"HGNC:329"	"AGRN"	"MONDO:0014052"	"congenital myasthenic syndrome 8"	"OMIM:615120"	"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:329"	"AGRN"	"OMIM:615120"	"congenital myasthenic syndrome 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:53"	""	""	"19631309, 22205389, 24951643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGRN0CMS"	"2023-11-30"
"GENCC_000106-HGNC_336-OMIM_267430-HP_0000007-GENCC_100002"	"HGNC:336"	"AGTR1"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"OMIM:267430"	"Renal tubular dysgenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:336"	"AGTR1"	"OMIM:267430"	"renal tubular dysgenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"106165, 11877468, 16116425, 22095942, 244246, 249760, 250504, 251200, 251360, 28973083, 7724593, 9466969"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGTR10RenalTub"	"2023-11-30"
"GENCC_000106-HGNC_21575-OMIM_608629-HP_0000007-GENCC_100002"	"HGNC:21575"	"AHI1"	"MONDO:0012078"	"Joubert syndrome 3"	"OMIM:608629"	"Joubert syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21575"	"AHI1"	"OMIM:608629"	"Joubert syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-02 10:02:30"	""	""	"15322546, 16155189, 16240161, 16453322, 18054307, 21937992, 23532844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AHI10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_348-OMIM_618345-HP_0000007-GENCC_100002"	"HGNC:348"	"AHR"	"MONDO:0032689"	"retinitis pigmentosa 85"	"OMIM:618345"	"?Retinitis pigmentosa 85"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:348"	"AHR"	"OMIM:618345"	"?Retinitis pigmentosa 85"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:13"	""	""	"24106308, 28851966, 29726989, 31009037"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AHR0IRD"	"2023-11-30"
"GENCC_000106-HGNC_349-OMIM_203650-HP_0000007-GENCC_100004"	"HGNC:349"	"AHSG"	"MONDO:0021035"	"alopecia-intellectual disability syndrome 1"	"OMIM:203650"	"?Alopecia-intellectual disability syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:349"	"AHSG"	"OMIM:203650"	"?Alopecia-intellectual disability syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:23"	""	""	"28054173, 30315573"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AHSG0AlopeciaMRSyn"	"2023-11-30"
"GENCC_000106-HGNC_2213-OMIM_254090-HP_0000006-GENCC_100002"	"HGNC:2213"	"COL6A3"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2213"	"COL6A3"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-27 08:08:10"	""	""	"17886299, 21280092, 24038877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL6A30TypeVICollagen"	"2023-11-30"
"GENCC_000106-HGNC_8768-OMIM_300614-HP_0001417-GENCC_100002"	"HGNC:8768"	"AIFM1"	"MONDO:0010378"	"X-linked hereditary sensory and autonomic neuropathy with hearing loss"	"OMIM:300614"	"Deafness, X-linked 5"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8768"	"AIFM1"	"OMIM:300614"	"X-linked hereditary sensory and autonomic neuropathy with hearing loss"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:08"	""	""	"25986071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIFM10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2213-OMIM_254090-HP_0000007-GENCC_100002"	"HGNC:2213"	"COL6A3"	"MONDO:0009681"	"Ullrich congenital muscular dystrophy 1A"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2213"	"COL6A3"	"OMIM:254090"	"Ullrich congenital muscular dystrophy 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-27 08:08:10"	""	""	"26004199"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL6A30TypeVICollagen02"	"2023-11-30"
"GENCC_000106-HGNC_8768-OMIM_300816-HP_0001417-GENCC_100002"	"HGNC:8768"	"AIFM1"	"MONDO:0010437"	"severe X-linked mitochondrial encephalomyopathy"	"OMIM:300816"	"Combined oxidative phosphorylation deficiency 6"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8768"	"AIFM1"	"OMIM:300816"	"severe X-linked mitochondrial encephalomyopathy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-20 00:39:48"	""	""	"20362274, 20818383, 25583628, 2593485, 26173962, 27290639, 37644805"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIFM10OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_10648-OMIM_260600-HP_0000007-GENCC_100002"	"HGNC:10648"	"AIMP1"	"MONDO:0009843"	"hypomyelinating leukodystrophy 3"	"OMIM:260600"	"Leukodystrophy, hypomyelinating, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10648"	"AIMP1"	"OMIM:260600"	"hypomyelinating leukodystrophy 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 20:04:13"	""	""	"21092922, 24958424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIMP10Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_13771-OMIM_122860-HP_0000005-GENCC_100004"	"HGNC:13771"	"SOST"	"MONDO:0021021"	"craniodiaphyseal dysplasia, autosomal dominant"	"OMIM:122860"	"Craniodiaphyseal dysplasia, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13771"	"SOST"	"OMIM:122860"	"Craniodiaphyseal dysplasia, autosomal dominant"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-19 08:13:48"	""	""	"21221996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOST0Craniodiaphdys"	"2023-11-30"
"GENCC_000106-HGNC_359-OMIM_604393-HP_0000007-GENCC_100002"	"HGNC:359"	"AIPL1"	"MONDO:0011458"	"Leber congenital amaurosis 4"	"OMIM:604393"	"Cone-rod dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:359"	"AIPL1"	"OMIM:604393"	"Leber congenital amaurosis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-20 11:20:15"	""	""	"10873396, 15347646, 15365178, 20702822, 26103963, 33067476, 33090715"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIPL10ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_360-OMIM_240300-HP_0000007-GENCC_100002"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:360"	"AIRE"	"OMIM:240300"	"autoimmune polyendocrine syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 11:57:19"	""	""	"11524731, 22236432, 2348835, 26084028, 26141571"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIRE0AutoPolyEnd"	"2023-11-30"
"GENCC_000106-HGNC_360-OMIM_240300-HP_0000006-GENCC_100002"	"HGNC:360"	"AIRE"	"MONDO:0009411"	"autoimmune polyendocrine syndrome type 1"	"OMIM:240300"	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:360"	"AIRE"	"OMIM:240300"	"autoimmune polyendocrine syndrome type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 11:57:19"	""	""	"11600535, 16114041, 18414681, 18728167, 26084028, 26141571"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIRE0AutoPolyEnd02"	"2023-11-30"
"GENCC_000106-HGNC_3033-OMIM_125370-HP_0000006-GENCC_100002"	"HGNC:3033"	"ATN1"	"MONDO:0007435"	"dentatorubral-pallidoluysian atrophy"	"OMIM:125370"	"Dentatorubral-pallidoluysian atrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3033"	"ATN1"	"OMIM:125370"	"Dentatorubral-pallidoluysian atrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-18 10:09:37"	""	""	"10337944, 11160976, 20589872, 21577324, 23754232, 7824105, 8136840, 9758625"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATN10DLRPA"	"2023-11-30"
"GENCC_000106-HGNC_379-OMIM_611820-HP_0000006-GENCC_100004"	"HGNC:379"	"AKAP9"	"MONDO:0012738"	"long QT syndrome 11"	"OMIM:611820"	"?Long QT syndrome 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:379"	"AKAP9"	"OMIM:611820"	"long QT syndrome 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-12-01 21:45:36"	""	""	"11799244, 18093912, 19862833, 22584458, 22778270, 23174487, 24981977, 26132555, 26189708, 28341588, 28973083, 30847666, 31418098, 31654968, 31983240, 36421840"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKAP90LongQT"	"2023-11-30"
"GENCC_000106-HGNC_385-OMIM_614279-HP_0000007-GENCC_100004"	"HGNC:385"	"AKR1C2"	"MONDO:0013664"	"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"	"OMIM:614279"	"{46XY sex reversal 8, modifier of}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:385"	"AKR1C2"	"OMIM:614279"	"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:53"	""	""	"21802064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKR1C2046XySexR"	"2023-11-30"
"GENCC_000106-HGNC_634-OMIM_125800-HP_0000007-GENCC_100002"	"HGNC:634"	"AQP2"	"MONDO:0007451"	"diabetes insipidus, nephrogenic, autosomal"	"OMIM:125800"	"Diabetes insipidus, nephrogenic, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:634"	"AQP2"	"OMIM:125800"	"Diabetes insipidus, nephrogenic, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 10:07:28"	""	""	"12191971, 14599123, 20301356, 22427315, 23150186, 27156763, 9024277, 9402087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AQP20DiabetesInsipid"	"2023-11-30"
"GENCC_000106-HGNC_391-OMIM_176920-HP_0000006-GENCC_100002"	"HGNC:391"	"AKT1"	"MONDO:0008318"	"Proteus syndrome"	"OMIM:176920"	"Proteus syndrome, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:391"	"AKT1"	"OMIM:176920"	"Proteus syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-11 18:14:39"	""	""	"16883308, 20489726, 21793738, 23237847, 29681107"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKT10Proteus"	"2023-11-30"
"GENCC_000106-HGNC_392-OMIM_125853-HP_0000006-GENCC_100004"	"HGNC:392"	"AKT2"	"MONDO:0005148"	"type 2 diabetes mellitus"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:392"	"AKT2"	"OMIM:125853"	"diabetes mellitus, noninsulin-dependent"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-19 08:37:12"	""	""	"15166380"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKT20DiabetesMell"	"2023-11-30"
"GENCC_000106-HGNC_392-OMIM_240900-HP_0000006-GENCC_100002"	"HGNC:392"	"AKT2"	"MONDO:0009416"	"hypoinsulinemic hypoglycemia and body hemihypertrophy"	"OMIM:240900"	"Hypoinsulinemic hypoglycemia with hemihypertrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:392"	"AKT2"	"OMIM:240900"	"hypoinsulinemic hypoglycemia and body hemihypertrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:56"	""	""	"21979934, 24285683, 26003998"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKT20HypoInsGlyHemi"	"2023-11-30"
"GENCC_000106-HGNC_397-OMIM_300751-HP_0001417-GENCC_100002"	"HGNC:397"	"ALAS2"	"MONDO:0020721"	"X-linked sideroblastic anemia 1"	"OMIM:300751"	"Anemia, sideroblastic, 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:397"	"ALAS2"	"OMIM:300751"	"X-linked sideroblastic anemia 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 21:11:35"	""	""	"20848343, 21309041, 24166784, 32297424, 34411431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALAS20ConSidAnem"	"2023-11-30"
"GENCC_000106-HGNC_397-OMIM_300752-HP_0001417-GENCC_100002"	"HGNC:397"	"ALAS2"	"MONDO:0010420"	"X-linked erythropoietic protoporphyria"	"OMIM:300752"	"Protoporphyria, erythropoietic, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:397"	"ALAS2"	"OMIM:300752"	"X-linked erythropoietic protoporphyria"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:18:10"	""	""	"18760763, 23263862, 23348515, 23409301"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALAS20Protopor"	"2023-11-30"
"GENCC_000106-HGNC_399-OMIM_616000-HP_0000007-GENCC_100002"	"HGNC:399"	"ALB"	"MONDO:0014449"	"congenital analbuminemia"	"OMIM:616000"	"Analbuminemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:399"	"ALB"	"OMIM:616000"	"congenital analbuminemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"11781148, 12028999, 2068071, 24627724, 3353369"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALB0Analbumi"	"2023-11-30"
"GENCC_000106-HGNC_399-OMIM_615999-HP_0000006-GENCC_100002"	"HGNC:399"	"ALB"	"MONDO:0014448"	"hyperthyroxinemia, familial dysalbuminemic"	"OMIM:615999"	"[Dysalbuminemic hyperthyroxinemia]"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:399"	"ALB"	"OMIM:615999"	"hyperthyroxinemia, familial dysalbuminemic"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 20:47:43"	""	""	"26169058, 27081329, 27904073, 8048949, 8064810"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALB0[Dysalbu"	"2023-11-30"
"GENCC_000106-HGNC_9722-OMIM_616603-HP_0000006-GENCC_100002"	"HGNC:9722"	"ALDH18A1"	"MONDO:0014706"	"cutis laxa, autosomal dominant 3"	"OMIM:616603"	"Cutis laxa, autosomal dominant 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9722"	"ALDH18A1"	"OMIM:616603"	"cutis laxa, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-08-10 14:22:51"	""	""	"11092761, 1308362, 18478038, 21739576, 24767728, 24913064, 26026163, 2632089, 26320891, 9643297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH18A10CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_9722-OMIM_219150-HP_0000007-GENCC_100002"	"HGNC:9722"	"ALDH18A1"	"MONDO:0009053"	"ALDH18A1-related de Barsy syndrome"	"OMIM:219150"	"Cutis laxa, autosomal recessive, type IIIA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9722"	"ALDH18A1"	"OMIM:219150"	"ALDH18A1-related de Barsy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 19:38:24"	""	""	"21739576, 22411858, 24913064, 28567303, 31829210"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH18A10CutisLaxa02"	"2023-11-30"
"GENCC_000106-HGNC_9722-OMIM_616586-HP_0000006-GENCC_100002"	"HGNC:9722"	"ALDH18A1"	"MONDO:0014702"	"autosomal recessive complex spastic paraplegia type 9B"	"OMIM:616586"	"Spastic paraplegia 9B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9722"	"ALDH18A1"	"OMIM:616586"	"autosomal recessive complex spastic paraplegia type 9B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 12:14:05"	""	""	"11092761, 18478038, 22170564, 24767728, 24913064, 25077174, 26026163, 26297558, 2629758, 26320891, 27023906"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH18A10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_9722-OMIM_616586-HP_0000007-GENCC_100002"	"HGNC:9722"	"ALDH18A1"	"MONDO:0014702"	"autosomal recessive complex spastic paraplegia type 9B"	"OMIM:616586"	"Spastic paraplegia 9B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9722"	"ALDH18A1"	"OMIM:616586"	"autosomal recessive complex spastic paraplegia type 9B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 12:14:05"	""	""	"11092761, 18478038, 22170564, 24767728, 24913064, 25077174, 26026163, 27023906, 28604674, 29915212"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH18A10SpasticPara02"	"2023-11-30"
"GENCC_000106-HGNC_634-OMIM_125800-HP_0000006-GENCC_100002"	"HGNC:634"	"AQP2"	"MONDO:0007451"	"diabetes insipidus, nephrogenic, autosomal"	"OMIM:125800"	"Diabetes insipidus, nephrogenic, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:634"	"AQP2"	"OMIM:125800"	"Diabetes insipidus, nephrogenic, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 10:07:28"	""	""	"11536078, 11929850, 16120822, 19585583, 22427315, 23150186, 23409988, 26714855, 27156763, 9649557"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AQP20DiabetesInsipid02"	"2023-11-30"
"GENCC_000106-HGNC_414-OMIM_611881-HP_0000007-GENCC_100002"	"HGNC:414"	"ALDOA"	"MONDO:0012747"	"glycogen storage disease due to aldolase A deficiency"	"OMIM:611881"	"Glycogen storage disease XII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:414"	"ALDOA"	"OMIM:611881"	"glycogen storage disease due to aldolase A deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"14615364, 25392908, 2825199, 8598869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDOA0GSD"	"2023-11-30"
"GENCC_000106-HGNC_31088-OMIM_613688-HP_0000005-GENCC_100004"	"HGNC:31088"	"ALG10B"	"MONDO:0013367"	"long QT syndrome 2"	"OMIM:613688"	"{Long QT syndrome, acquired, reduced susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:31088"	"ALG10B"	"OMIM:613688"	"long QT syndrome 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-04-21 20:28:31"	""	""	"3707172"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG10B0LongQT"	"2023-11-30"
"GENCC_000106-HGNC_30881-OMIM_300884-HP_0001417-GENCC_100002"	"HGNC:30881"	"ALG13"	"MONDO:0010472"	"developmental and epileptic encephalopathy, 36"	"OMIM:300884"	"Developmental and epileptic encephalopathy 36"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:30881"	"ALG13"	"OMIM:300884"	"developmental and epileptic encephalopathy, 36"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-02 14:10:10"	""	""	"22492991, 23033978, 23934111, 24501762, 24781210, 24896178, 25877686, 26138355, 28777499"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG130ALG13CDG"	"2023-11-30"
"GENCC_000106-HGNC_28287-OMIM_619036-HP_0000007-GENCC_100002"	"HGNC:28287"	"ALG14"	"MONDO:0033619"	"myopathy, epilepsy, and progressive cerebral atrophy"	"OMIM:619036"	"Myopathy, epilepsy, and progressive cerebral atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28287"	"ALG14"	"OMIM:619036"	"Myopathy, epilepsy, and progressive cerebral atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-09 07:02:22"	""	""	"28733338, 68352674, 745937"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG140ALG14-CDG"	"2023-11-30"
"GENCC_000106-HGNC_28287-OMIM_616227-HP_0000007-GENCC_100002"	"HGNC:28287"	"ALG14"	"MONDO:0014542"	"congenital myasthenic syndrome 15"	"OMIM:616227"	"?Myasthenic syndrome, congenital, 15, without tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28287"	"ALG14"	"OMIM:616227"	"congenital myasthenic syndrome 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-10 13:15:16"	""	""	"23404334, 26870666, 28733338"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG140MyasthenicSyn"	"2023-11-30"
"GENCC_000106-HGNC_23159-OMIM_607906-HP_0000005-GENCC_100004"	"HGNC:23159"	"ALG2"	"MONDO:0011933"	"ALG2-congenital disorder of glycosylation"	"OMIM:607906"	"Congenital disorder of glycosylation, type Ii"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23159"	"ALG2"	"OMIM:607906"	"ALG2-congenital disorder of glycosylation"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:49"	""	""	"12684507, 23404334"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG20ALG2CDG"	"2023-11-30"
"GENCC_000106-HGNC_23159-OMIM_616228-HP_0000007-GENCC_100002"	"HGNC:23159"	"ALG2"	"MONDO:0014543"	"congenital myasthenic syndrome 14"	"OMIM:616228"	"Myasthenic syndrome, congenital, 14, with tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23159"	"ALG2"	"OMIM:616228"	"congenital myasthenic syndrome 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:02:11"	""	""	"12684507, 23404334, 24461433"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG20CMS"	"2023-11-30"
"GENCC_000106-HGNC_20266-OMIM_620056-HP_0000006-GENCC_100002"	"HGNC:20266"	"ALG5"	"MONDO:0031062"	"polycystic kidney disease 7"	"OMIM:620056"	"Polycystic kidney disease 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20266"	"ALG5"	"OMIM:620056"	"polycystic kidney disease 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-02 18:04:28"	""	""	"35896117"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG50PKD"	"2023-11-30"
"GENCC_000106-HGNC_23161-OMIM_608104-HP_0000007-GENCC_100002"	"HGNC:23161"	"ALG8"	"MONDO:0011969"	"ALG8-congenital disorder of glycosylation"	"OMIM:608104"	"Congenital disorder of glycosylation, type Ih"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23161"	"ALG8"	"OMIM:608104"	"ALG8-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 09:28:18"	""	""	"15235028, 19862844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG80ALG8CDG"	"2023-11-30"
"GENCC_000106-HGNC_23161-OMIM_617874-HP_0000006-GENCC_100002"	"HGNC:23161"	"ALG8"	"MONDO:0054743"	"polycystic liver disease 3 with or without kidney cysts"	"OMIM:617874"	"Polycystic liver disease 3 with or without kidney cysts"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23161"	"ALG8"	"OMIM:617874"	"polycystic liver disease 3 with or without kidney cysts"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-14 06:24:01"	""	""	"35778421"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG80PKD"	"2023-11-30"
"GENCC_000106-HGNC_15672-OMIM_608776-HP_0000007-GENCC_100002"	"HGNC:15672"	"ALG9"	"MONDO:0012117"	"ALG9-congenital disorder of glycosylation"	"OMIM:608776"	"Congenital disorder of glycosylation, type Il"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15672"	"ALG9"	"OMIM:608776"	"ALG9-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:27:28"	""	""	"15148656, 15945070, 19451548, 25966638, 26453364"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALG90ALG9CDG"	"2023-11-30"
"GENCC_000106-HGNC_430-OMIM_242100-HP_0000007-GENCC_100002"	"HGNC:430"	"ALOX12B"	"MONDO:0009439"	"autosomal recessive congenital ichthyosis 2"	"OMIM:242100"	"Ichthyosis, congenital, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:430"	"ALOX12B"	"OMIM:242100"	"autosomal recessive congenital ichthyosis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-30 10:35:10"	""	""	"1274782, 16116617, 23621129, 31046801"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALOX12B0ARCI"	"2023-11-30"
"GENCC_000106-HGNC_20917-OMIM_614979-HP_0000006-GENCC_100002"	"HGNC:20917"	"ALPK1"	"MONDO:0013999"	"retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome"	"OMIM:614979"	"ROSAH syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20917"	"ALPK1"	"OMIM:614979"	"optic nerve edema-splenomegaly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 09:39:24"	""	""	"30967659, 31053777, 31939038, 35868845, 36543582"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALPK10ROSAH"	"2023-11-30"
"GENCC_000106-HGNC_17574-OMIM_618052-HP_0000007-GENCC_100002"	"HGNC:17574"	"ALPK3"	"MONDO:0054838"	"cardiomyopathy, familial hypertrophic 27"	"OMIM:618052"	"Cardiomyopathy, familial hypertrophic 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17574"	"ALPK3"	"OMIM:618052"	"cardiomyopathy, familial hypertrophic 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-23 11:46:28"	""	""	"21441111, 26846950, 27106955, 27106995, 85360505"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALPK30ALPK3rel"	"2023-11-30"
"GENCC_000106-HGNC_17574-OMIM_618052-HP_0000006-GENCC_100002"	"HGNC:17574"	"ALPK3"	"MONDO:0054838"	"cardiomyopathy, familial hypertrophic 27"	"OMIM:618052"	"Cardiomyopathy, familial hypertrophic 27"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17574"	"ALPK3"	"OMIM:618052"	"cardiomyopathy, familial hypertrophic 27"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-23 11:46:28"	""	""	"26846950"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALPK30HCM"	"2023-11-30"
"GENCC_000106-HGNC_438-OMIM_146300-HP_0000006-GENCC_100002"	"HGNC:438"	"ALPL"	"MONDO:0007798"	"adult hypophosphatasia"	"OMIM:146300"	"Hypophosphatasia, adult"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:438"	"ALPL"	"OMIM:146300"	"adult hypophosphatasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 14:00:32"	""	""	"10872988, 11479741, 17916236, 19500388, 21168482, 24334170, 25716980, 25731960, 25982064, 32973344, 33814268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALPL0HPP"	"2023-11-30"
"GENCC_000106-HGNC_438-OMIM_241500-HP_0000007-GENCC_100002"	"HGNC:438"	"ALPL"	"MONDO:0009427"	"infantile hypophosphatasia"	"OMIM:241500"	"Hypophosphatasia, infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:438"	"ALPL"	"OMIM:241500"	"infantile hypophosphatasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 22:56:10"	""	""	"10679946, 1409720, 17916236, 251350, 25731960, 3174660, 9781036"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALPL0HPP02"	"2023-11-30"
"GENCC_000106-HGNC_443-OMIM_606353-HP_0000007-GENCC_100002"	"HGNC:443"	"ALS2"	"MONDO:0011663"	"juvenile primary lateral sclerosis"	"OMIM:606353"	"Primary lateral sclerosis, juvenile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:443"	"ALS2"	"OMIM:606353"	"juvenile primary lateral sclerosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"11586298"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALS20ALS"	"2023-11-30"
"GENCC_000106-HGNC_443-OMIM_607225-HP_0000007-GENCC_100002"	"HGNC:443"	"ALS2"	"MONDO:0011797"	"infantile-onset ascending hereditary spastic paralysis"	"OMIM:607225"	"Spastic paralysis, infantile onset ascending"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:443"	"ALS2"	"OMIM:607225"	"infantile-onset ascending hereditary spastic paralysis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-13 15:26:48"	""	""	"12145748, 12509863, 14668431, 24315819"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALS20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_449-OMIM_136760-HP_0000007-GENCC_100002"	"HGNC:449"	"ALX3"	"MONDO:0007636"	"frontorhiny"	"OMIM:136760"	"Frontonasal dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:449"	"ALX3"	"OMIM:136760"	"frontorhiny"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"11641221, 19409524, 22106187, 29215096, 30548201"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALX30Frontonasal"	"2023-11-30"
"GENCC_000106-HGNC_2976-OMIM_604121-HP_0000006-GENCC_100002"	"HGNC:2976"	"DNMT1"	"MONDO:0011397"	"autosomal dominant cerebellar ataxia, deafness and narcolepsy"	"OMIM:604121"	"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2976"	"DNMT1"	"OMIM:604121"	"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-12 09:22:11"	""	""	"22328086, 23904686, 24709307"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNMT10ADCADN"	"2023-11-30"
"GENCC_000106-HGNC_450-OMIM_613451-HP_0000007-GENCC_100002"	"HGNC:450"	"ALX4"	"MONDO:0013268"	"frontonasal dysplasia with alopecia and genital anomaly"	"OMIM:613451"	"Frontonasal dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:450"	"ALX4"	"OMIM:613451"	"frontonasal dysplasia with alopecia and genital anomaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"19692347, 24668755, 25963140, 37724761, 9374397, 9636085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALX40Frontonasal"	"2023-11-30"
"GENCC_000106-HGNC_450-OMIM_609597-HP_0000006-GENCC_100002"	"HGNC:450"	"ALX4"	"MONDO:0012309"	"parietal foramina 2"	"OMIM:609597"	"Parietal foramina 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:450"	"ALX4"	"OMIM:609597"	"parietal foramina 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-18 09:27:55"	""	""	"11106354, 11137991, 16319823, 24668755"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALX40ParietalFora"	"2023-11-30"
"GENCC_000106-HGNC_451-OMIM_614307-HP_0000007-GENCC_100002"	"HGNC:451"	"AMACR"	"MONDO:0013681"	"alpha-methylacyl-CoA racemase deficiency"	"OMIM:614307"	"Alpha-methylacyl-CoA racemase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:451"	"AMACR"	"OMIM:614307"	"alpha-methylacyl-CoA racemase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"10655068, 12512044, 15016763, 15249642, 18032455, 20821052"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMACR0AlphaMeth"	"2023-11-30"
"GENCC_000106-HGNC_452-OMIM_616270-HP_0000007-GENCC_100002"	"HGNC:452"	"AMBN"	"MONDO:0014560"	"amelogenesis imperfecta type 1F"	"OMIM:616270"	"Amelogenesis imperfecta, type IF"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:452"	"AMBN"	"OMIM:616270"	"amelogenesis imperfecta type 1F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-22 14:32:15"	""	""	"15583034, 19375505, 24858907, 25373699, 26502894"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMBN0AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_464-OMIM_261550-HP_0000007-GENCC_100002"	"HGNC:464"	"AMH"	"MONDO:0009857"	"persistent Mullerian duct syndrome"	"OMIM:261550"	"Persistent Mullerian duct syndrome, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:464"	"AMH"	"OMIM:261550"	"persistent Mullerian duct syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 20:56:03"	""	""	"1483695, 22797409, 28528332, 30668521, 8162013, 8872466"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMH0Persiste02"	"2023-11-30"
"GENCC_000106-HGNC_465-OMIM_261550-HP_0000007-GENCC_100002"	"HGNC:465"	"AMHR2"	"MONDO:0009857"	"persistent Mullerian duct syndrome"	"OMIM:261550"	"Persistent Mullerian duct syndrome, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:465"	"AMHR2"	"OMIM:261550"	"persistent Mullerian duct syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 20:57:14"	""	""	"19359476, 249214, 251078, 251318, 28094762, 28528332, 8872466"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMHR20Persiste"	"2023-11-30"
"GENCC_000106-HGNC_14604-OMIM_261100-HP_0000007-GENCC_100002"	"HGNC:14604"	"AMN"	"MONDO:0100156"	"Imerslund-Grasbeck syndrome type 1"	"OMIM:261100"	"Imerslund-Grasbeck syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14604"	"AMN"	"OMIM:261100"	"Imerslund-Grasbeck syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-03 09:12:21"	""	""	"12590260, 14593474, 22929189, 261100"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMN0MegaAnemia1"	"2023-11-30"
"GENCC_000106-HGNC_469-OMIM_615809-HP_0000007-GENCC_100002"	"HGNC:469"	"AMPD2"	"MONDO:0014351"	"pontocerebellar hypoplasia type 9"	"OMIM:615809"	"Pontocerebellar hypoplasia, type 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:469"	"AMPD2"	"OMIM:615809"	"pontocerebellar hypoplasia type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 22:58:30"	""	""	"23911318, 27066553, 29463858"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMPD20PCH"	"2023-11-30"
"GENCC_000106-HGNC_469-OMIM_615686-HP_0000005-GENCC_100004"	"HGNC:469"	"AMPD2"	"MONDO:0014305"	"hereditary spastic paraplegia 63"	"OMIM:615686"	"?Spastic paraplegia 63, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:469"	"AMPD2"	"OMIM:615686"	"?Spastic paraplegia 63"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-09 15:42:48"	""	""	"24482476, 27159321, 29463858"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMPD20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_473-OMIM_605899-HP_0000007-GENCC_100002"	"HGNC:473"	"AMT"	"MONDO:0011612"	"glycine encephalopathy"	"OMIM:605899"	"Glycine encephalopathy1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:473"	"AMT"	"OMIM:605899"	"glycine encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 18:06:45"	""	""	"16450403, 605899"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMT0GlyEnceph02"	"2023-11-30"
"GENCC_000106-HGNC_33188-OMIM_617607-HP_0000006-GENCC_100004"	"HGNC:33188"	"AMTN"	"MONDO:0021547"	"amelogenesis imperfecta type 3B"	"OMIM:617607"	"?Amelogenesis imperfecta, type IIIB"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:33188"	"AMTN"	"OMIM:617607"	"?Amelogenesis imperfecta, type IIIB"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-24 12:41:17"	""	""	"25715379, 26620968, 27412008"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMTN0AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_132450-HP_0000006-GENCC_100004"	"HGNC:2200"	"COL2A1"	"MONDO:0007562"	"multiple epiphyseal dysplasia, Beighton type"	"OMIM:132450"	"?Epiphyseal dysplasia, multiple, with myopia and deafness"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:132450"	"?Epiphyseal dysplasia, multiple, with myopia and deafness"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-16 13:50:55"	""	""	"132450, 21922596, 22496037, 27390512, 28018693, 28983407, 29453956, 30541462, 35907616, 9800905"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10EpiphysDys"	"2023-11-30"
"GENCC_000106-HGNC_483-OMIM_611895-HP_0000006-GENCC_100002"	"HGNC:483"	"ANG"	"MONDO:0012753"	"amyotrophic lateral sclerosis type 9"	"OMIM:611895"	"Amyotrophic lateral sclerosis 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:483"	"ANG"	"OMIM:611895"	"amyotrophic lateral sclerosis type 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:07"	""	""	"16501576, 17886298, 17900154, 18087731, 19153377, 22190368, 22722621, 23047679, 26255299"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANG0ALS"	"2023-11-30"
"GENCC_000106-HGNC_6998-OMIM_134610-HP_0000007-GENCC_100002"	"HGNC:6998"	"MEFV"	"MONDO:0007601"	"familial Mediterranean fever, autosomal dominant"	"OMIM:134610"	"Familial Mediterranean fever, AD"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6998"	"MEFV"	"OMIM:134610"	"Familial Mediterranean fever, AD"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-24 18:26:51"	""	""	"12667444, 21600797, 23226472, 24469716, 28690860"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MEFV0FamMedFev"	"2023-11-30"
"GENCC_000106-HGNC_485-OMIM_619369-HP_0000005-GENCC_100004"	"HGNC:485"	"ANGPT2"	"MONDO:0023662"	"lymphatic malformation 10"	"OMIM:619369"	"Lymphatic malformation 10"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:485"	"ANGPT2"	"OMIM:619369"	"Lymphatic malformation 10"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-07 13:58:23"	""	""	"32908006"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANGPT20Lymph"	"2023-11-30"
"GENCC_000106-HGNC_491-OMIM_605019-HP_0000007-GENCC_100002"	"HGNC:491"	"ANGPTL3"	"MONDO:0011505"	"familial hypobetalipoproteinemia 2"	"OMIM:605019"	"Hypobetalipoproteinemia, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:491"	"ANGPTL3"	"OMIM:605019"	"familial hypobetalipoproteinemia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-28 18:43:15"	""	""	"22062970, 22247256, 24058201"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANGPTL30Hypobeta"	"2023-11-30"
"GENCC_000106-HGNC_492-OMIM_182900-HP_0000006-GENCC_100002"	"HGNC:492"	"ANK1"	"MONDO:0008447"	"hereditary spherocytosis type 1"	"OMIM:182900"	"Spherocytosis, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:492"	"ANK1"	"OMIM:182900"	"hereditary spherocytosis type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 14:11:50"	""	""	"26830532, 7883994, 8640229"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANK10Spherocytosis"	"2023-11-30"
"GENCC_000106-HGNC_492-OMIM_182900-HP_0000007-GENCC_100004"	"HGNC:492"	"ANK1"	"MONDO:0008447"	"hereditary spherocytosis type 1"	"OMIM:182900"	"Spherocytosis, type 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:492"	"ANK1"	"OMIM:182900"	"hereditary spherocytosis type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-31 14:11:50"	""	""	"17327413, 8640229"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANK10Spherocytosis02"	"2023-11-30"
"GENCC_000106-HGNC_493-OMIM_600919-HP_0000005-GENCC_100004"	"HGNC:493"	"ANK2"	"MONDO:0010958"	"cardiac arrhythmia, ankyrin-B-related"	"OMIM:600919"	"Cardiac arrhythmia, ankyrin-B-related"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:493"	"ANK2"	"OMIM:600919"	"cardiac arrhythmia, ankyrin-B-related"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-07 08:08:47"	""	""	"12571597, 15178757, 17242276, 30571258, 30847666, 30929919, 31264976, 32164423, 32233023"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANK20CPVT"	"2023-11-30"
"GENCC_000106-HGNC_494-OMIM_615493-HP_0000007-GENCC_100002"	"HGNC:494"	"ANK3"	"MONDO:0014210"	"intellectual disability-hypotonia-spasticity-sleep disorder syndrome"	"OMIM:615493"	"Intellectual developmental disorder, autosomal recessive 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:494"	"ANK3"	"OMIM:615493"	"intellectual disability-hypotonia-spasticity-sleep disorder syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23390136, 26539891, 28411148, 28894008, 29302074"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANK30ID"	"2023-11-30"
"GENCC_000106-HGNC_15492-OMIM_118600-HP_0000006-GENCC_100002"	"HGNC:15492"	"ANKH"	"MONDO:0007319"	"chondrocalcinosis 2"	"OMIM:118600"	"Chondrocalcinosis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15492"	"ANKH"	"OMIM:118600"	"chondrocalcinosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-25 11:42:01"	""	""	"12297987, 13130483, 17186460"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANKH0Chondrocalcinos"	"2023-11-30"
"GENCC_000106-HGNC_15492-OMIM_123000-HP_0000006-GENCC_100002"	"HGNC:15492"	"ANKH"	"MONDO:0007397"	"craniometaphyseal dysplasia, autosomal dominant"	"OMIM:123000"	"Craniometaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15492"	"ANKH"	"OMIM:123000"	"craniometaphyseal dysplasia, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"11326272, 17186460, 21149338"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANKH0Craniometaphdys"	"2023-11-30"
"GENCC_000106-HGNC_21316-OMIM_148050-HP_0000006-GENCC_100002"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG syndrome"	"OMIM:148050"	"KBG syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21316"	"ANKRD11"	"OMIM:148050"	"KBG syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 20:34:38"	""	""	"17986521, 21782149, 25413698, 25464108, 25838844, 611192"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANKRD110KBG"	"2023-11-30"
"GENCC_000106-HGNC_23575-OMIM_619504-HP_0000006-GENCC_100002"	"HGNC:23575"	"ANKRD17"	"MONDO:0859186"	"Chopra-Amiel-Gordon syndrome"	"OMIM:619504"	"Chopra-Amiel-Gordon syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23575"	"ANKRD17"	"OMIM:619504"	"Chopra-Amiel-Gordon syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-12 13:47:36"	""	""	"25363768, 28135719, 28191890, 32299451, 33909992"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANKRD170ANKRD17rel"	"2023-11-30"
"GENCC_000106-HGNC_29186-OMIM_188000-HP_0000006-GENCC_100002"	"HGNC:29186"	"ANKRD26"	"MONDO:0008555"	"thrombocytopenia 2"	"OMIM:188000"	"Thrombocytopenia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29186"	"ANKRD26"	"OMIM:188000"	"thrombocytopenia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:27:59"	""	""	"21211618, 23869080, 24430186, 25902755, 26136524, 27884173"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANKRD260Thrombocytopen"	"2023-11-30"
"GENCC_000106-HGNC_14082-OMIM_616032-HP_0000006-GENCC_100002"	"HGNC:14082"	"ANLN"	"MONDO:0014462"	"focal segmental glomerulosclerosis 8"	"OMIM:616032"	"Focal segmental glomerulosclerosis 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14082"	"ANLN"	"OMIM:616032"	"focal segmental glomerulosclerosis 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:07"	""	""	"24676636, 29869118, 30406062"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANLN0FocalSeg02"	"2023-11-30"
"GENCC_000106-HGNC_4396-OMIM_616973-HP_0000006-GENCC_100002"	"HGNC:4396"	"GNB1"	"MONDO:0014855"	"intellectual disability, autosomal dominant 42"	"OMIM:616973"	"Intellectual developmental disorder, autosomal dominant 42"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4396"	"GNB1"	"OMIM:616973"	"Intellectual developmental disorder, autosomal dominant 42"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 01:42:36"	""	""	"25485910, 27108799, 28087732, 32918542"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNB10ID"	"2023-11-30"
"GENCC_000106-HGNC_27337-OMIM_166260-HP_0000006-GENCC_100002"	"HGNC:27337"	"ANO5"	"MONDO:0008151"	"gnathodiaphyseal dysplasia"	"OMIM:166260"	"Gnathodiaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:27337"	"ANO5"	"OMIM:166260"	"gnathodiaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-27 15:38:29"	""	""	"15124103, 23047743, 23843187, 25866257, 26402641, 27068316, 27216912, 28176803, 29124309, 30554457"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANO50GDD"	"2023-11-30"
"GENCC_000106-HGNC_27337-OMIM_611307-HP_0000007-GENCC_100002"	"HGNC:27337"	"ANO5"	"MONDO:0012652"	"autosomal recessive limb-girdle muscular dystrophy type 2L"	"OMIM:611307"	"Muscular dystrophy, limb-girdle, autosomal recessive 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27337"	"ANO5"	"OMIM:611307"	"autosomal recessive limb-girdle muscular dystrophy type 2L"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:33:34"	""	""	"114459, 21186264, 23606453, 25891276"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANO50LGMD"	"2023-11-30"
"GENCC_000106-HGNC_21014-OMIM_230740-HP_0000007-GENCC_100002"	"HGNC:21014"	"ANTXR1"	"MONDO:0009263"	"GAPO syndrome"	"OMIM:230740"	"GAPO syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21014"	"ANTXR1"	"OMIM:230740"	"GAPO syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-03-18 13:30:40"	""	""	"19622764, 23602711, 25045128"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANTXR10GAPO"	"2023-11-30"
"GENCC_000106-HGNC_535-OMIM_617839-HP_0000006-GENCC_100002"	"HGNC:535"	"ANXA11"	"MONDO:0027694"	"amyotrophic lateral sclerosis type 23"	"OMIM:617839"	"Amyotrophic lateral sclerosis 23"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:535"	"ANXA11"	"OMIM:617839"	"amyotrophic lateral sclerosis type 23"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-12 21:25:14"	""	""	"28469040, 29650794, 29845112, 33087501, 34099057, 36280108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANXA110ALS"	"2023-11-30"
"GENCC_000106-HGNC_9967-OMIM_142623-HP_0000006-GENCC_100002"	"HGNC:9967"	"RET"	"MONDO:0007723"	"Hirschsprung disease, susceptibility to, 1"	"OMIM:142623"	"{Hirschsprung disease, protection against}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9967"	"RET"	"OMIM:142623"	"{Hirschsprung disease, susceptibility to, 1}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-11-17 15:03:44"	""	""	"11438491, 142623, 20473317, 22174939, 22648184, 8401580"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RET0Hirschsprung"	"2023-11-30"
"GENCC_000106-HGNC_559-OMIM_609313-HP_0000007-GENCC_100002"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"OMIM:609313"	"MEDNIK syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:559"	"AP1S1"	"OMIM:609313"	"MEDNIK syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-20 18:44:51"	""	""	"15668823, 19057675, 23423674, 24754424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP1S10MEDNIK"	"2023-11-30"
"GENCC_000106-HGNC_560-OMIM_304340-HP_0001417-GENCC_100002"	"HGNC:560"	"AP1S2"	"MONDO:0010574"	"syndromic X-linked intellectual disability 5"	"OMIM:304340"	"Pettigrew syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:560"	"AP1S2"	"OMIM:304340"	"syndromic X-linked intellectual disability 5"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:57"	""	""	"17186471, 17617514, 18428203, 23756445"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP1S20ID"	"2023-11-30"
"GENCC_000106-HGNC_7579-OMIM_155100-HP_0000006-GENCC_100002"	"HGNC:7579"	"MYH9"	"MONDO:0015912"	"macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	"OMIM:155100"	"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7579"	"MYH9"	"OMIM:155100"	"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-24 05:37:36"	""	""	"11023810, 12792306, 15555549, 16162639, 19630815, 23911319, 25077172, 25505834, 26226608, 30105468, 30115950"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH90MYH9RD"	"2023-11-30"
"GENCC_000106-HGNC_568-OMIM_617050-HP_0000005-GENCC_100004"	"HGNC:568"	"AP3D1"	"MONDO:0014885"	"Hermansky-Pudlak syndrome 10"	"OMIM:617050"	"?Hermansky-Pudlak syndrome 10"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:568"	"AP3D1"	"OMIM:617050"	"Hermansky-Pudlak syndrome 10"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-22 14:48:42"	""	""	"26744459, 30472485, 36445457, 9697856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP3D10Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_574-OMIM_612936-HP_0000007-GENCC_100002"	"HGNC:574"	"AP4M1"	"MONDO:0013048"	"hereditary spastic paraplegia 50"	"OMIM:612936"	"Spastic paraplegia 50, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:574"	"AP4M1"	"OMIM:612936"	"hereditary spastic paraplegia 50"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-05 23:36:02"	""	""	"24700674, 25496299, 25558065"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP4M10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_583-OMIM_175100-HP_0000006-GENCC_100002"	"HGNC:583"	"APC"	"MONDO:0021056"	"familial adenomatous polyposis 1"	"OMIM:175100"	"Adenomatous polyposis coli"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:583"	"APC"	"OMIM:175100"	"familial adenomatous polyposis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 22:39:02"	""	""	"10398435, 10923044, 1319115, 14574158, 15459959, 16454848, 17238184, 17258512, 17963004, 18063416, 18612695, 20105204, 20420945, 20685668, 22987206, 23580574, 25073656, 25585202, 25645574, 25760285, 25931827, 26819281, 28185118, 611731, 7661930, 8244108, 8990002, 9176082, 9215849, 9272455, 9426707, 9476377"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APC0FAP"	"2023-11-30"
"GENCC_000106-HGNC_583-OMIM_619182-HP_0000006-GENCC_100002"	"HGNC:583"	"APC"	"MONDO:0017790"	"gastric adenocarcinoma and proximal polyposis of the stomach"	"OMIM:619182"	"Gastric adenocarcinoma and proximal polyposis of the stomach"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:583"	"APC"	"OMIM:619182"	"Gastric adenocarcinoma and proximal polyposis of the stomach"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:57"	""	""	"27087319, 27343414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APC0GAPPS"	"2023-11-30"
"GENCC_000106-HGNC_24036-OMIM_618677-HP_0000007-GENCC_100002"	"HGNC:24036"	"APC2"	"MONDO:0032866"	"cortical dysplasia, complex, with other brain malformations 10"	"OMIM:618677"	"Cortical dysplasia, complex, with other brain malformations 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24036"	"APC2"	"OMIM:618677"	"cortical dysplasia, complex, with other brain malformations 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:14"	""	""	"22573669, 31585108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APC20Liss0Spectrum"	"2023-11-30"
"GENCC_000106-HGNC_4439-OMIM_153670-HP_0000006-GENCC_100002"	"HGNC:4439"	"GP1BA"	"MONDO:0007930"	"Bernard-Soulier syndrome, type A2, autosomal dominant"	"OMIM:153670"	"Bernard-Soulier syndrome, type A2 (dominant)"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4439"	"GP1BA"	"OMIM:153670"	"Bernard-Soulier syndrome, type A2 (dominant)"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"11222377, 19067792, 21933849, 27291889, 27479822"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GP1BA0Macroth"	"2023-11-30"
"GENCC_000106-HGNC_4026-OMIM_154020-HP_0000006-GENCC_100002"	"HGNC:4026"	"FXYD2"	"MONDO:0007937"	"renal hypomagnesemia 2"	"OMIM:154020"	"Hypomagnesemia 2, renal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4026"	"FXYD2"	"OMIM:154020"	"Hypomagnesemia 2, renal"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"11062458, 12763860, 17980699, 25765846, 3298795"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FXYD20Hypomagnesemia"	"2023-11-30"
"GENCC_000106-HGNC_600-OMIM_105200-HP_0000006-GENCC_100002"	"HGNC:600"	"APOA1"	"MONDO:0007099"	"familial visceral amyloidosis"	"OMIM:105200"	"Amyloidosis, hereditary systemic 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:600"	"APOA1"	"OMIM:105200"	"familial visceral amyloidosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-14 13:51:07"	""	""	"17665932, 19324996, 21122686, 2123470, 21296086, 22184756, 22952757, 23066790, 23233678, 24603325, 24702826, 26515634, 26562506, 27464946, 32022753, 7583566, 8282791"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOA10Amyloido04"	"2023-11-30"
"GENCC_000106-HGNC_25911-OMIM_156000-HP_0000005-GENCC_100004"	"HGNC:25911"	"FAM136A"	"MONDO:0007972"	"Meniere disease"	"OMIM:156000"	"OMIM:156000"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25911"	"FAM136A"	"OMIM:156000"	"Meniere disesae"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-28 13:49:21"	""	""	"25305078, 32038468"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM136A0MenieresDis"	"2023-11-30"
"GENCC_000106-HGNC_17288-OMIM_144650-HP_0000006-GENCC_100002"	"HGNC:17288"	"APOA5"	"MONDO:0007762"	"hyperlipoproteinemia type V"	"OMIM:144650"	"Hyperchylomicronemia, late-onset"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17288"	"APOA5"	"OMIM:144650"	"hyperlipoproteinemia type V"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-06 16:20:45"	""	""	"11588264, 15591215, 16200213, 18324930, 19410254, 19447388, 21993410, 23151256, 24788417, 24793350, 25487149, 28951076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOA50Chylomicronemia"	"2023-11-30"
"GENCC_000106-HGNC_603-OMIM_144010-HP_0000006-GENCC_100002"	"HGNC:603"	"APOB"	"MONDO:0007751"	"hypercholesterolemia, autosomal dominant, type B"	"OMIM:144010"	"Hypercholesterolemia, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:603"	"APOB"	"OMIM:144010"	"hypercholesterolemia, autosomal dominant, type B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-06 11:32:39"	""	""	"20145306, 20506408, 20828696, 21376320, 22698793, 23776352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOB0FamHypercholest"	"2023-11-30"
"GENCC_000106-HGNC_603-OMIM_615558-HP_0000006-GENCC_100002"	"HGNC:603"	"APOB"	"MONDO:0014252"	"familial hypobetalipoproteinemia 1"	"OMIM:615558"	"Hypobetalipoproteinemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:603"	"APOB"	"OMIM:615558"	"familial hypobetalipoproteinemia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-06 11:20:54"	""	""	"17570373, 20032471, 22855658"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOB0Hypobetalipopro"	"2023-11-30"
"GENCC_000106-HGNC_30171-OMIM_158590-HP_0000006-GENCC_100002"	"HGNC:30171"	"HSPB8"	"MONDO:0008025"	"neuronopathy, distal hereditary motor, type 2A"	"OMIM:158590"	"Neuronopathy, distal hereditary motor, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30171"	"HSPB8"	"OMIM:158590"	"Neuronopathy, distal hereditary motor, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-14 09:21:20"	""	""	"15122253, 20157854, 20538880, 21985219, 22176143, 26718575, 28501893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPB80HMN"	"2023-11-30"
"GENCC_000106-HGNC_613-OMIM_104310-HP_0000005-GENCC_100004"	"HGNC:613"	"APOE"	"MONDO:0007089"	"Alzheimer disease 2"	"OMIM:104310"	"Alzheimer disease 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:613"	"APOE"	"OMIM:104310"	"Alzheimer disease 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-28 20:57:15"	""	""	"18549781, 23022896"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOE0Alzheimer"	"2023-11-30"
"GENCC_000106-HGNC_613-OMIM_617347-HP_0000006-GENCC_100002"	"HGNC:613"	"APOE"	"MONDO:0018473"	"hyperlipoproteinemia type 3"	"OMIM:617347"	"Hyperlipoproteinemia, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:613"	"APOE"	"OMIM:617347"	"hyperlipoproteinemia type 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"11095479, 22949395, 24267230, 27830118"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOE0FamHypercholest"	"2023-11-30"
"GENCC_000106-HGNC_12399-OMIM_609200-HP_0000006-GENCC_100002"	"HGNC:12399"	"MYOT"	"MONDO:0012215"	"myofibrillar myopathy 3"	"OMIM:609200"	"Myopathy, myofibrillar, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12399"	"MYOT"	"OMIM:609200"	"Myopathy, myofibrillar, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-07 13:21:23"	""	""	"10958653, 12499399, 15111675, 15947064, 16684602, 16801328, 19458539, 21361873, 21676617, 22349301, 27708273, 30055862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYOT0MFM"	"2023-11-30"
"GENCC_000106-HGNC_613-OMIM_617347-HP_0000007-GENCC_100002"	"HGNC:613"	"APOE"	"MONDO:0018473"	"hyperlipoproteinemia type 3"	"OMIM:617347"	"Hyperlipoproteinemia, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:613"	"APOE"	"OMIM:617347"	"hyperlipoproteinemia type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"1360898, 15989726, 7175379, 8571954, 9125318, 9603433"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOE0Hyperlipoprot"	"2023-11-30"
"GENCC_000106-HGNC_613-OMIM_611771-HP_0000006-GENCC_100002"	"HGNC:613"	"APOE"	"MONDO:0012725"	"lipoprotein glomerulopathy"	"OMIM:611771"	"Lipoprotein glomerulopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:613"	"APOE"	"OMIM:611771"	"lipoprotein glomerulopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 13:42:17"	""	""	"10432380, 10529625, 18077821, 23110818, 23448537, 24025644"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOE0LipoProtGlom"	"2023-11-30"
"GENCC_000106-HGNC_6636-OMIM_181350-HP_0000006-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0021569"	"Emery-Dreifuss muscular dystrophy 2, autosomal dominant"	"OMIM:181350"	"Emery-Dreifuss muscular dystrophy 2, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6636"	"LMNA"	"OMIM:181350"	"Emery-Dreifuss muscular dystrophy 2, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-30 10:37:13"	""	""	"17377071, 18551513, 24508248"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNA0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_7323-OMIM_162100-HP_0000006-GENCC_100002"	"HGNC:7323"	"SEPTIN9"	"MONDO:0008076"	"amyotrophic neuralgia"	"OMIM:162100"	"Amyotrophy, hereditary neuralgic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7323"	"SEPTIN9"	"OMIM:162100"	"Amyotrophy, hereditary neuralgic"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:36"	""	""	"16186812, 19139049, 20019224, 22981636"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEPT90Amyotrop"	"2023-11-30"
"GENCC_000106-HGNC_620-OMIM_605714-HP_0000006-GENCC_100002"	"HGNC:620"	"APP"	"MONDO:0011583"	"cerebral amyloid angiopathy, APP-related"	"OMIM:605714"	"Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:620"	"APP"	"OMIM:605714"	"cerebral amyloid angiopathy, APP-related"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-20 09:08:45"	""	""	"11409420, 12654973, 15311281, 16178030, 16369530, 16612981, 19225789, 21085603"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APP0CerebAmyAng"	"2023-11-30"
"GENCC_000106-HGNC_620-OMIM_104300-HP_0000006-GENCC_100002"	"HGNC:620"	"APP"	"MONDO:0007088"	"Alzheimer disease type 1"	"OMIM:104300"	"Alzheimer disease 1, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:620"	"APP"	"OMIM:104300"	"Alzheimer disease type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-28 16:27:53"	""	""	"10441572, 16369530, 22727994, 24524897, 24627227, 25253695"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APP0EarlyOnsetAlz"	"2023-11-30"
"GENCC_000106-HGNC_24035-OMIM_616511-HP_0000005-GENCC_100004"	"HGNC:24035"	"APPL1"	"MONDO:0014674"	"maturity-onset diabetes of the young type 14"	"OMIM:616511"	"{Maturity-onset diabetes of the young, type 14}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24035"	"APPL1"	"OMIM:616511"	"maturity-onset diabetes of the young type 14"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-08 15:10:49"	""	""	"26073777, 31264968, 33046911, 33408077"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APPL10MODY"	"2023-11-30"
"GENCC_000106-HGNC_11277-OMIM_162400-HP_0000006-GENCC_100002"	"HGNC:11277"	"SPTLC1"	"MONDO:0008086"	"neuropathy, hereditary sensory and autonomic, type 1A"	"OMIM:162400"	"Neuropathy, hereditary sensory and autonomic, type IA"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11277"	"SPTLC1"	"OMIM:162400"	"Neuropathy, hereditary sensory and autonomic, type IA"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-16 02:47:49"	""	""	"11242114, 15037712, 16210380, 19132419, 19651702, 21618344, 23454272, 24604904, 250360, 251382, 26681808, 281200, 282316, 282892, 30373780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTLC10HSAN"	"2023-11-30"
"GENCC_000106-HGNC_3309-OMIM_162800-HP_0000006-GENCC_100002"	"HGNC:3309"	"ELANE"	"MONDO:0008090"	"cyclic hematopoiesis"	"OMIM:162800"	"Neutropenia, cyclic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3309"	"ELANE"	"OMIM:162800"	"Neutropenia, cyclic"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:54:04"	""	""	"130130, 23463630"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELANE0Neutropenia"	"2023-11-30"
"GENCC_000106-HGNC_644-OMIM_300068-HP_0001417-GENCC_100002"	"HGNC:644"	"AR"	"MONDO:0019154"	"androgen insensitivity syndrome"	"OMIM:300068"	"Androgen insensitivity"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:644"	"AR"	"OMIM:300068"	"androgen insensitivity syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"19463997, 23774508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AR0AIS"	"2023-11-30"
"GENCC_000106-HGNC_644-OMIM_313200-HP_0001417-GENCC_100002"	"HGNC:644"	"AR"	"MONDO:0010735"	"Kennedy disease"	"OMIM:313200"	"Spinal and bulbar muscular atrophy, X-linked 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:644"	"AR"	"OMIM:313200"	"Kennedy disease"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:57"	""	""	"11266016, 11422120, 1795688820, 19227892, 19228953, 19846582, 20177426, 20301508, 2062380, 20869592, 25047668"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AR0SMA"	"2023-11-30"
"GENCC_000106-HGNC_652-OMIM_618185-HP_0000006-GENCC_100002"	"HGNC:652"	"ARF1"	"MONDO:0032588"	"periventricular nodular heterotopia 8"	"OMIM:618185"	"Periventricular nodular heterotopia 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:652"	"ARF1"	"OMIM:618185"	"periventricular nodular heterotopia 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-17 15:17:46"	""	""	"28868155, 36345169"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARF10PeriventHeterot"	"2023-11-30"
"GENCC_000106-HGNC_11027-OMIM_166900-HP_0000006-GENCC_100002"	"HGNC:11027"	"SLC4A1"	"MONDO:0008165"	"southeast Asian ovalocytosis"	"OMIM:166900"	"Ovalocytosis, SA type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11027"	"SLC4A1"	"OMIM:166900"	"Ovalocytosis, SA type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-09 13:12:03"	""	""	"1464593, 1722314, 7949112, 8251392, 8486716"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A10Ovalocytosis"	"2023-11-30"
"GENCC_000106-HGNC_2528-OMIM_170650-HP_0000005-GENCC_100004"	"HGNC:2528"	"CTSC"	"MONDO:0008226"	"periodontitis, aggressive 1"	"OMIM:170650"	"Periodontitis 1, juvenile"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2528"	"CTSC"	"OMIM:170650"	"Periodontitis 1, juvenile"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:22"	""	""	"14974080"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSC0Periodontitis"	"2023-11-30"
"GENCC_000106-HGNC_29216-OMIM_100300-HP_0000006-GENCC_100002"	"HGNC:29216"	"ARHGAP31"	"MONDO:0024506"	"Adams-Oliver syndrome 1"	"OMIM:100300"	"Adams-Oliver syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29216"	"ARHGAP31"	"OMIM:100300"	"Adams-Oliver syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 13:52:17"	""	""	"21565291, 24668619, 355754"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARHGAP310AdamsOliver"	"2023-11-30"
"GENCC_000106-HGNC_678-OMIM_615244-HP_0000007-GENCC_100002"	"HGNC:678"	"ARHGDIA"	"MONDO:0014099"	"nephrotic syndrome, type 8"	"OMIM:615244"	"Nephrotic syndrome, type 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:678"	"ARHGDIA"	"OMIM:615244"	"nephrotic syndrome, type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"10498891, 19029984, 23434736, 23867502, 251064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARHGDIA0NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_4261-OMIM_173100-HP_0000006-GENCC_100002"	"HGNC:4261"	"GH1"	"MONDO:0008250"	"isolated growth hormone deficiency type II"	"OMIM:173100"	"Growth hormone deficiency, isolated, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4261"	"GH1"	"OMIM:173100"	"Growth hormone deficiency, isolated, type II"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 08:49:28"	""	""	"10372722, 11502827, 12000366, 12538635, 18006625, 18554279, 23789946"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GH10GHD02"	"2023-11-30"
"GENCC_000106-HGNC_14103-OMIM_608236-HP_0000005-GENCC_100004"	"HGNC:14103"	"ARHGEF10"	"MONDO:0011998"	"autosomal dominant slowed nerve conduction velocity"	"OMIM:608236"	"?Slowed nerve conduction velocity, AD"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14103"	"ARHGEF10"	"OMIM:608236"	"?Slowed nerve conduction velocity, AD"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-07 14:02:40"	""	""	"14058709, 14508709, 21719701, 27959697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARHGEF100SNCV"	"2023-11-30"
"GENCC_000106-HGNC_682-OMIM_617523-HP_0000007-GENCC_100004"	"HGNC:682"	"ARHGEF2"	"MONDO:0056797"	"neurodevelopmental disorder with midbrain and hindbrain malformations"	"OMIM:617523"	"?Neurodevelopmental disorder with midbrain and hindbrain malformations"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:682"	"ARHGEF2"	"OMIM:617523"	"?Neurodevelopmental disorder with midbrain and hindbrain malformations"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"28453519, 29421787"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARHGEF20ARHGEF2NEDMHM"	"2023-11-30"
"GENCC_000106-HGNC_685-OMIM_300436-HP_0001417-GENCC_100004"	"HGNC:685"	"ARHGEF6"	"MONDO:0010326"	"intellectual disability, X-linked 46"	"OMIM:300436"	"Intellectual developmental disorder, X-linked 46"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:685"	"ARHGEF6"	"OMIM:300436"	"intellectual disability, X-linked 46"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-14 12:25:49"	""	""	"11017088, 135861667, 17304053, 19377476, 20861843, 21989057, 23871722, 28397838"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARHGEF60ID"	"2023-11-30"
"GENCC_000106-HGNC_6240-OMIM_613695-HP_0000006-GENCC_100002"	"HGNC:6240"	"KCNE1"	"MONDO:0013372"	"long QT syndrome 5"	"OMIM:613695"	"Long QT syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6240"	"KCNE1"	"OMIM:613695"	"Long QT syndrome 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:14"	""	""	"19862833"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNE10LongQT"	"2023-11-30"
"GENCC_000106-HGNC_4439-OMIM_177820-HP_0000006-GENCC_100002"	"HGNC:4439"	"GP1BA"	"MONDO:0008332"	"platelet-type von Willebrand disease"	"OMIM:177820"	"von Willebrand disease, platelet-type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4439"	"GP1BA"	"OMIM:177820"	"von Willebrand disease, platelet-type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-30 14:03:36"	""	""	"19951970, 26116638, 8384898"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GP1BA0vonWillebrand"	"2023-11-30"
"GENCC_000106-HGNC_694-OMIM_618173-HP_0000006-GENCC_100002"	"HGNC:694"	"ARL3"	"MONDO:0032577"	"retinitis pigmentosa 83"	"OMIM:618173"	"Retinitis pigmentosa 83"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:694"	"ARL3"	"OMIM:618173"	"retinitis pigmentosa 83"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 10:29:29"	""	""	"16565502, 25422369, 26964041, 30932721"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARL30RP"	"2023-11-30"
"GENCC_000106-HGNC_13210-OMIM_600151-HP_0000007-GENCC_100002"	"HGNC:13210"	"ARL6"	"MONDO:0010832"	"Bardet-Biedl syndrome 3"	"OMIM:600151"	"Bardet-Biedl syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13210"	"ARL6"	"OMIM:600151"	"Bardet-Biedl syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 20:30:39"	""	""	"15258860, 15314642, 19858128, 20142850, 22085962, 250666, 27486776, 28502102"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARL60BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_13210-OMIM_613575-HP_0000007-GENCC_100002"	"HGNC:13210"	"ARL6"	"MONDO:0013312"	"retinitis pigmentosa 55"	"OMIM:613575"	"Retinitis pigmentosa 55"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13210"	"ARL6"	"OMIM:613575"	"retinitis pigmentosa 55"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 09:46:43"	""	""	"19956407, 20333246, 21282186, 22334370, 26355662, 26489029, 27124789, 28130426, 31736247"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARL60RP"	"2023-11-30"
"GENCC_000106-HGNC_11257-OMIM_261640-HP_0000007-GENCC_100002"	"HGNC:11257"	"SPR"	"MONDO:0009863"	"BH4-deficient hyperphenylalaninemia A"	"OMIM:261640"	"Hyperphenylalaninemia, BH4-deficient, A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11257"	"SPR"	"OMIM:261640"	"Hyperphenylalaninemia, BH4-deficient, A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"16917893, 21431957, 22522443, 24588500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPR0SPRHyperphe"	"2023-11-30"
"GENCC_000106-HGNC_25583-OMIM_615451-HP_0000007-GENCC_100002"	"HGNC:25583"	"ODAD2"	"MONDO:0014193"	"primary ciliary dyskinesia 23"	"OMIM:615451"	"Ciliary dyskinesia, primary, 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25583"	"ODAD2"	"OMIM:615451"	"primary ciliary dyskinesia 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23849778"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARMC40PCD"	"2023-11-30"
"GENCC_000106-HGNC_16876-OMIM_615926-HP_0000007-GENCC_100002"	"HGNC:16876"	"ARNT2"	"MONDO:0014404"	"Webb-Dattani syndrome"	"OMIM:615926"	"?Webb-Dattani syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16876"	"ARNT2"	"OMIM:615926"	"Webb-Dattani syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"11381139, 24022475, 28600779, 29165578"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARNT20?Webb-Da"	"2023-11-30"
"GENCC_000106-HGNC_710-OMIM_301010-HP_0001417-GENCC_100002"	"HGNC:710"	"ARR3"	"MONDO:0049221"	"myopia 26, X-linked, female-limited"	"OMIM:301010"	"Myopia 26, X-linked, female-limited"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:710"	"ARR3"	"OMIM:301010"	"myopia 26, X-linked, female-limited"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 22:00:33"	""	""	"27829781, 32215939, 34966409, 37268727"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARR30Myopia"	"2023-11-30"
"GENCC_000106-HGNC_714-OMIM_253200-HP_0000007-GENCC_100002"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"OMIM:253200"	"Mucopolysaccharidosis type VI (Maroteaux-Lamy)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:714"	"ARSB"	"OMIM:253200"	"mucopolysaccharidosis type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"1718978, 17458871, 20385007, 22133300, 24677745, 24875751, 26586959, 30118150, 30982216"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARSB0MPS0VI"	"2023-11-30"
"GENCC_000106-HGNC_719-OMIM_302950-HP_0001417-GENCC_100002"	"HGNC:719"	"ARSL"	"MONDO:0010555"	"X-linked chondrodysplasia punctata 1"	"OMIM:302950"	"Chondrodysplasia punctata, X-linked recessive"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:719"	"ARSL"	"OMIM:302950"	"X-linked chondrodysplasia punctata 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-07 13:57:33"	""	""	"12567415, 18348268, 19839041, 23470839, 26526591, 7720070, 9409863, 9497243, 9863597"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARSE0ChondrodysPunct"	"2023-11-30"
"GENCC_000106-HGNC_24102-OMIM_618144-HP_0000007-GENCC_100002"	"HGNC:24102"	"ARSG"	"MONDO:0029141"	"Usher syndrome, type 4"	"OMIM:618144"	"Usher syndrome, type IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24102"	"ARSG"	"OMIM:618144"	"Usher syndrome, type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:11:54"	""	""	"26975023, 29300381, 32455177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARSG0Usher"	"2023-11-30"
"GENCC_000106-HGNC_25239-OMIM_619698-HP_0000007-GENCC_100002"	"HGNC:25239"	"ARSK"	"MONDO:0030524"	"mucopolysaccharidosis, type 10"	"OMIM:619698"	"Mucopolysaccharidosis, type X"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25239"	"ARSK"	"OMIM:619698"	"Mucopolysaccharidosis, type X"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-24 11:34:09"	""	""	"34916232"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARSK0MPS0X"	"2023-11-30"
"GENCC_000106-HGNC_11027-OMIM_185020-HP_0000005-GENCC_100004"	"HGNC:11027"	"SLC4A1"	"MONDO:0008494"	"cryohydrocytosis"	"OMIM:185020"	"Cryohydrocytosis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11027"	"SLC4A1"	"OMIM:185020"	"Cryohydrocytosis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-09 13:14:47"	""	""	"19644137, 21209359, 21255002"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A10Stomatocytosis"	"2023-11-30"
"GENCC_000106-HGNC_18060-OMIM_300215-HP_0001417-GENCC_100002"	"HGNC:18060"	"ARX"	"MONDO:0010268"	"X-linked lissencephaly with abnormal genitalia"	"OMIM:300215"	"Lissencephaly, X-linked 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:18060"	"ARX"	"OMIM:300215"	"X-linked lissencephaly with abnormal genitalia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-16 08:45:25"	""	""	"19738637"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARX0XLAG0lissen"	"2023-11-30"
"GENCC_000106-HGNC_735-OMIM_228000-HP_0000007-GENCC_100002"	"HGNC:735"	"ASAH1"	"MONDO:0009218"	"Farber lipogranulomatosis"	"OMIM:228000"	"Farber lipogranulomatosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:735"	"ASAH1"	"OMIM:228000"	"Farber lipogranulomatosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-05 11:31:21"	""	""	"24355074, 24866043, 27026573, 575757, 8955159"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASAH10FarberLipoGran"	"2023-11-30"
"GENCC_000106-HGNC_735-OMIM_159950-HP_0000007-GENCC_100002"	"HGNC:735"	"ASAH1"	"MONDO:0008045"	"spinal muscular atrophy-progressive myoclonic epilepsy syndrome"	"OMIM:159950"	"Spinal muscular atrophy with progressive myoclonic epilepsy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:735"	"ASAH1"	"OMIM:159950"	"spinal muscular atrophy-progressive myoclonic epilepsy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-19 15:59:07"	""	""	"22703880, 24164096, 24866043, 25046240, 27026573"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASAH10SMA"	"2023-11-30"
"GENCC_000106-HGNC_17185-OMIM_603383-HP_0000005-GENCC_100004"	"HGNC:17185"	"ASB10"	"MONDO:0011311"	"glaucoma 1, open angle, F"	"OMIM:603383"	"Glaucoma 1, open angle, F"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17185"	"ASB10"	"OMIM:603383"	"Glaucoma 1, open angle, F"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"22156576, 22798626, 26713451"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASB100Glaucoma"	"2023-11-30"
"GENCC_000106-HGNC_6294-OMIM_192500-HP_0000006-GENCC_100002"	"HGNC:6294"	"KCNQ1"	"MONDO:0100316"	"long QT syndrome 1"	"OMIM:192500"	"{Long QT syndrome 1, acquired, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6294"	"KCNQ1"	"OMIM:192500"	"Long QT syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 19:01:18"	""	""	"19862833, 9323054"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ10LongQT"	"2023-11-30"
"GENCC_000106-HGNC_19088-OMIM_617796-HP_0000006-GENCC_100002"	"HGNC:19088"	"ASH1L"	"MONDO:0030918"	"intellectual disability, autosomal dominant 52"	"OMIM:617796"	"Intellectual developmental disorder, autosomal dominant 52"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19088"	"ASH1L"	"OMIM:617796"	"Intellectual developmental disorder, autosomal dominant 52"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:32:13"	""	""	"27824329, 28263302, 28394464, 29276005, 29753921"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASH1L0ASH1Lrel"	"2023-11-30"
"GENCC_000106-HGNC_757-OMIM_601552-HP_0000007-GENCC_100002"	"HGNC:757"	"ASPH"	"MONDO:0011106"	"facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"	"OMIM:601552"	"Traboulsi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:757"	"ASPH"	"OMIM:601552"	"facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 09:30:43"	""	""	"24768550, 27151922, 30194805, 30600741, 31012784, 35918038"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASPH0Trabouls"	"2023-11-30"
"GENCC_000106-HGNC_25567-OMIM_617183-HP_0000006-GENCC_100002"	"HGNC:25567"	"ATAD3A"	"MONDO:0014958"	"Harel-Yoon syndrome"	"OMIM:617183"	"Harel-Yoon syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25567"	"ATAD3A"	"OMIM:617183"	"Harel-Yoon syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-07-02 13:10:03"	""	""	"27640307, 28158749, 29096039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATAD3A0ATAD3Arel"	"2023-11-30"
"GENCC_000106-HGNC_25567-OMIM_617183-HP_0000007-GENCC_100002"	"HGNC:25567"	"ATAD3A"	"MONDO:0014958"	"Harel-Yoon syndrome"	"OMIM:617183"	"Harel-Yoon syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25567"	"ATAD3A"	"OMIM:617183"	"Harel-Yoon syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-07-02 13:10:03"	""	""	"27640307, 29053797, 29096039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATAD3A0ATAD3Arelated"	"2023-11-30"
"GENCC_000106-HGNC_32151-OMIM_618810-HP_0000005-GENCC_100004"	"HGNC:32151"	"ATAD3C"	"MONDO:0032931"	"pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"OMIM:618810"	"Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:32151"	"ATAD3C"	"OMIM:618810"	"pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:52"	""	""	"28549128, 30143558, 32004445"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATAD3C0ATAD3Crel"	"2023-11-30"
"GENCC_000106-HGNC_779-OMIM_601238-HP_0000007-GENCC_100002"	"HGNC:779"	"ATCAY"	"MONDO:0011025"	"Cayman type cerebellar ataxia"	"OMIM:601238"	"Ataxia, cerebellar, Cayman type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:779"	"ATCAY"	"OMIM:601238"	"Cayman type cerebellar ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 18:59:43"	""	""	"14556008, 29449188, 37752557"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATCAY0SCAR"	"2023-11-30"
"GENCC_000106-HGNC_589-OMIM_617584-HP_0000007-GENCC_100004"	"HGNC:589"	"ATG5"	"MONDO:0033115"	"spinocerebellar ataxia, autosomal recessive 25"	"OMIM:617584"	"?Spinocerebellar ataxia, autosomal recessive 25"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:589"	"ATG5"	"OMIM:617584"	"?Spinocerebellar ataxia, autosomal recessive 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:03"	""	""	"26812546"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATG50SCAR"	"2023-11-30"
"GENCC_000106-HGNC_16935-OMIM_619422-HP_0000007-GENCC_100002"	"HGNC:16935"	"ATG7"	"MONDO:0030323"	"spinocerebellar ataxia, autosomal recessive 31"	"OMIM:619422"	"Spinocerebellar ataxia, autosomal recessive 31"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16935"	"ATG7"	"OMIM:619422"	"spinocerebellar ataxia, autosomal recessive 31"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-11-04 08:37:00"	""	""	"34161705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATG70Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_794-OMIM_608688-HP_0000007-GENCC_100002"	"HGNC:794"	"ATIC"	"MONDO:0012099"	"AICA-ribosiduria"	"OMIM:608688"	"AICA-ribosiduria due to ATIC deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:794"	"ATIC"	"OMIM:608688"	"AICA-ribosiduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-16 09:01:35"	""	""	"15114530, 31028847, 32557644, 35637059, 36367252"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATIC0Aica-Rib"	"2023-11-30"
"GENCC_000106-HGNC_11231-OMIM_613708-HP_0000006-GENCC_100002"	"HGNC:11231"	"ATL1"	"MONDO:0013381"	"neuropathy, hereditary sensory, type 1D"	"OMIM:613708"	"Neuropathy, hereditary sensory, type ID"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11231"	"ATL1"	"OMIM:613708"	"neuropathy, hereditary sensory, type 1D"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:43:14"	""	""	"14506257, 15184642, 15596607, 21194679, 22340599, 23108492, 23483706, 27260292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATL10HSAN"	"2023-11-30"
"GENCC_000106-HGNC_11231-OMIM_182600-HP_0000006-GENCC_100002"	"HGNC:11231"	"ATL1"	"MONDO:0008437"	"hereditary spastic paraplegia 3A"	"OMIM:182600"	"Spastic paraplegia 3A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11231"	"ATL1"	"OMIM:182600"	"hereditary spastic paraplegia 3A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 20:39:18"	""	""	"11685207, 12499504, 14506257, 15184642, 15596607, 16537571, 16612642, 16815977, 17502470, 18664244, 20816793, 20947813, 22203332, 23079343, 23483706, 23999326, 25454648, 25761634"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATL10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_795-OMIM_208900-HP_0000007-GENCC_100002"	"HGNC:795"	"ATM"	"MONDO:0008840"	"ataxia telangiectasia"	"OMIM:208900"	"Ataxia-telangiectasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:795"	"ATM"	"OMIM:208900"	"ataxia telangiectasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:21:37"	""	""	"10783165, 12552566, 19431188, 1975092, 21300797, 2220826, 2370052, 23807571, 25614872, 7611279, 8689683"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATM0AT"	"2023-11-30"
"GENCC_000106-HGNC_3033-OMIM_618494-HP_0000006-GENCC_100002"	"HGNC:3033"	"ATN1"	"MONDO:0032781"	"congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"OMIM:618494"	"Congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3033"	"ATN1"	"OMIM:618494"	"congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-24 18:51:43"	""	""	"30827498"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATN10ATN1rel"	"2023-11-30"
"GENCC_000106-HGNC_3671-OMIM_193003-HP_0000006-GENCC_100002"	"HGNC:3671"	"FGF14"	"MONDO:0008654"	"spinocerebellar ataxia 27A"	"OMIM:193003"	"Spinocerebellar ataxia 27A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3671"	"FGF14"	"OMIM:193003"	"Spinocerebellar ataxia 27A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 18:05:49"	""	""	"12123606, 12489043, 15470364, 17978045, 24252256, 25530029, 25566820, 30017992, 36493768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF140SCAR"	"2023-11-30"
"GENCC_000106-HGNC_28929-OMIM_194300-HP_0000006-GENCC_100002"	"HGNC:28929"	"KRT74"	"MONDO:0020717"	"autosomal dominant wooly hair"	"OMIM:194300"	"Woolly hair, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28929"	"KRT74"	"OMIM:194300"	"Woolly hair, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"20346438, 21188418"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT740WoollyHa"	"2023-11-30"
"GENCC_000106-HGNC_13907-OMIM_221900-HP_0000007-GENCC_100002"	"HGNC:13907"	"ATOH7"	"MONDO:0009097"	"persistent hyperplastic primary vitreous, autosomal recessive"	"OMIM:221900"	"Persistent hyperplastic primary vitreous, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13907"	"ATOH7"	"OMIM:221900"	"persistent hyperplastic primary vitreous, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-12-02 10:25:49"	""	""	"11493566, 20395239, 21441919, 22068589, 22645276, 28192794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATOH70PHPV"	"2023-11-30"
"GENCC_000106-HGNC_13907-OMIM_221900-HP_0000005-GENCC_100004"	"HGNC:13907"	"ATOH7"	"MONDO:0009097"	"persistent hyperplastic primary vitreous, autosomal recessive"	"OMIM:221900"	"Persistent hyperplastic primary vitreous, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13907"	"ATOH7"	"OMIM:221900"	"persistent hyperplastic primary vitreous, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-12-02 10:25:49"	""	""	"25414181"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATOH70POAG"	"2023-11-30"
"GENCC_000106-HGNC_3964-OMIM_229070-HP_0000007-GENCC_100002"	"HGNC:3964"	"FSHB"	"MONDO:0009239"	"hypogonadotropic hypogonadism 24 without anosmia"	"OMIM:229070"	"Hypogonadotropic hypogonadism 24 without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3964"	"FSHB"	"OMIM:229070"	"Hypogonadotropic hypogonadism 24 without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"12161499, 16630814, 19966036, 250876, 8220432, 9271483, 9280841, 9624193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FSHB0IHH"	"2023-11-30"
"GENCC_000106-HGNC_30213-OMIM_606693-HP_0000007-GENCC_100002"	"HGNC:30213"	"ATP13A2"	"MONDO:0011706"	"Kufor-Rakeb syndrome"	"OMIM:606693"	"Kufor-Rakeb syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30213"	"ATP13A2"	"OMIM:606693"	"Kufor-Rakeb syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 09:33:56"	""	""	"16964263, 18413573, 20853184, 21542062, 21696388, 22743658, 24949580, 25197640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP13A20KuforRakeb"	"2023-11-30"
"GENCC_000106-HGNC_30213-OMIM_617225-HP_0000007-GENCC_100002"	"HGNC:30213"	"ATP13A2"	"MONDO:0014975"	"autosomal recessive spastic paraplegia type 78"	"OMIM:617225"	"Spastic paraplegia 78, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30213"	"ATP13A2"	"OMIM:617225"	"autosomal recessive spastic paraplegia type 78"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-24 15:50:34"	""	""	"27165006, 27217339, 28137957"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP13A20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_799-OMIM_618036-HP_0000006-GENCC_100002"	"HGNC:799"	"ATP1A1"	"MONDO:0054833"	"charcot-marie-tooth disease, axonal, type 2DD"	"OMIM:618036"	"Charcot-Marie-Tooth disease, axonal, type 2DD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:799"	"ATP1A1"	"OMIM:618036"	"charcot-marie-tooth disease, axonal, type 2DD"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 16:02:04"	""	""	"29499166, 31373411"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A10CMT"	"2023-11-30"
"GENCC_000106-HGNC_799-OMIM_618314-HP_0000006-GENCC_100002"	"HGNC:799"	"ATP1A1"	"MONDO:0020788"	"hypomagnesemia, seizures, and intellectual disability 2"	"OMIM:618314"	"Hypomagnesemia, seizures, and impaired intellectual development 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:799"	"ATP1A1"	"OMIM:618314"	"Hypomagnesemia, seizures, and impaired intellectual development 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-12-02 12:36:35"	""	""	"30388404, 31705535, 35110381"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_800-OMIM_104290-HP_0000006-GENCC_100002"	"HGNC:800"	"ATP1A2"	"MONDO:0007087"	"alternating hemiplegia of childhood 1"	"OMIM:104290"	"Alternating hemiplegia of childhood 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:800"	"ATP1A2"	"OMIM:104290"	"alternating hemiplegia of childhood 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-09 13:52:00"	""	""	"12539047, 14667076, 15174025, 15286158, 17435187, 27445835, 29904856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A20AltHemiplegia"	"2023-11-30"
"GENCC_000106-HGNC_800-OMIM_619605-HP_0000006-GENCC_100002"	"HGNC:800"	"ATP1A2"	"MONDO:0030472"	"developmental and epileptic encephalopathy 98"	"OMIM:619605"	"Developmental and epileptic encephalopathy 98"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:800"	"ATP1A2"	"OMIM:619605"	"Developmental and epileptic encephalopathy 98"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-20 16:10:39"	""	""	"160098521, 27864847, 28135719, 30185235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_3951-OMIM_229300-HP_0000007-GENCC_100002"	"HGNC:3951"	"FXN"	"MONDO:0100340"	"Friedreich ataxia 1"	"OMIM:229300"	"Friedreich ataxia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3951"	"FXN"	"OMIM:229300"	"Friedreich ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 09:17:42"	""	""	"10533031, 10681084, 16344344, 17703324, 20301458, 23430166, 8596916"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FXN0FriedreichAtax"	"2023-11-30"
"GENCC_000106-HGNC_800-OMIM_602481-HP_0000006-GENCC_100002"	"HGNC:800"	"ATP1A2"	"MONDO:0011232"	"migraine, familial hemiplegic, 2"	"OMIM:602481"	"Migraine, familial hemiplegic, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:800"	"ATP1A2"	"OMIM:602481"	"migraine, familial hemiplegic, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 19:01:52"	""	""	"12539047, 12805306, 15159495, 18056581, 21398422, 23954377, 24704353"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A20FHM"	"2023-11-30"
"GENCC_000106-HGNC_801-OMIM_614820-HP_0000006-GENCC_100002"	"HGNC:801"	"ATP1A3"	"MONDO:0013900"	"alternating hemiplegia of childhood 2"	"OMIM:614820"	"Alternating hemiplegia of childhood 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:801"	"ATP1A3"	"OMIM:614820"	"alternating hemiplegia of childhood 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-01 18:51:53"	""	""	"19455355, 19666602, 20301294, 22850527, 23400780, 24336169, 24523486, 24983657, 27146299"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A30AltHemiplegia"	"2023-11-30"
"GENCC_000106-HGNC_801-OMIM_601338-HP_0000006-GENCC_100002"	"HGNC:801"	"ATP1A3"	"MONDO:0011038"	"cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"	"OMIM:601338"	"CAPOS syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:801"	"ATP1A3"	"OMIM:601338"	"cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 15:18:28"	""	""	"20301294, 24336169, 24468074, 27091223"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A30Capos"	"2023-11-30"
"GENCC_000106-HGNC_801-OMIM_128235-HP_0000006-GENCC_100002"	"HGNC:801"	"ATP1A3"	"MONDO:0007496"	"dystonia 12"	"OMIM:128235"	"Dystonia-12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:801"	"ATP1A3"	"OMIM:128235"	"dystonia 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-21 10:31:35"	""	""	"15260953, 17282997, 20301294, 22842232, 24336169, 24468074, 24523486, 24631656, 25447930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A30Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_801-OMIM_619606-HP_0000006-GENCC_100002"	"HGNC:801"	"ATP1A3"	"MONDO:0030473"	"developmental and epileptic encephalopathy 99"	"OMIM:619606"	"Developmental and epileptic encephalopathy 99"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:801"	"ATP1A3"	"OMIM:619606"	"developmental and epileptic encephalopathy 99"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-01 18:50:29"	""	""	"24336169, 25656163, 27726050, 29395663, 32043468"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A30EIEE"	"2023-11-30"
"GENCC_000106-HGNC_814-OMIM_619910-HP_0000006-GENCC_100002"	"HGNC:814"	"ATP2B1"	"MONDO:0030891"	"intellectual developmental disorder, autosomal dominant 66"	"OMIM:619910"	"Intellectual developmental disorder, autosomal dominant 66"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:814"	"ATP2B1"	"OMIM:619910"	"intellectual developmental disorder, autosomal dominant 66"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-21 14:47:47"	""	""	"15178683, 28135719, 28191890, 31785789, 33077954, 35358416"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2B10ATP2B1rel"	"2023-11-30"
"GENCC_000106-HGNC_815-OMIM_619804-HP_0000006-GENCC_100002"	"HGNC:815"	"ATP2B2"	"MONDO:0030719"	"hearing loss, autosomal dominant 82"	"OMIM:619804"	"Deafness, autosomal dominant 82"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:815"	"ATP2B2"	"OMIM:619804"	"Deafness, autosomal dominant 82"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-30 12:06:51"	""	""	"15829536, 17234811, 30535804"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2B20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_816-OMIM_302500-HP_0001417-GENCC_100002"	"HGNC:816"	"ATP2B3"	"MONDO:0010547"	"X-linked progressive cerebellar ataxia"	"OMIM:302500"	"?Spinocerebellar ataxia, X-linked 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:816"	"ATP2B3"	"OMIM:302500"	"X-linked progressive cerebellar ataxia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:10"	""	""	"22912398, 25356970, 25953895, 27035656, 27435318, 27632770, 27653636, 28807751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP2B30SCAXL1"	"2023-11-30"
"GENCC_000106-HGNC_11037-OMIM_233100-HP_0000007-GENCC_100002"	"HGNC:11037"	"SLC5A2"	"MONDO:0009297"	"familial renal glucosuria"	"OMIM:233100"	"Renal glucosuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11037"	"SLC5A2"	"OMIM:233100"	"Renal glucosuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-11-29 10:05:53"	""	""	"21165652, 22314875, 26064518"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC5A20RenalGlucosuria"	"2023-11-30"
"GENCC_000106-HGNC_11037-OMIM_233100-HP_0000006-GENCC_100002"	"HGNC:11037"	"SLC5A2"	"MONDO:0009297"	"familial renal glucosuria"	"OMIM:233100"	"Renal glucosuria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11037"	"SLC5A2"	"OMIM:233100"	"Renal glucosuria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-11-29 10:05:53"	""	""	"27446256, 1000104, 23152292, 36450716"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC5A20RenalGlucosuria02"	"2023-11-30"
"GENCC_000106-HGNC_16931-OMIM_233600-HP_0000005-GENCC_100004"	"HGNC:16931"	"HYOU1"	"MONDO:0009305"	"granulocytopenia with immunoglobulin abnormality"	"OMIM:233600"	"?Immunodeficiency 59 and hypoglycemia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16931"	"HYOU1"	"OMIM:233600"	"?Immunodeficiency 59 and hypoglycemia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:15"	""	""	"27913302, 31785789, 32888943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HYOU10HYOU1rel"	"2023-11-30"
"GENCC_000106-HGNC_838-OMIM_614053-HP_0000005-GENCC_100004"	"HGNC:838"	"ATP5F1E"	"MONDO:0013547"	"mitochondrial complex V (ATP synthase) deficiency nuclear type 3"	"OMIM:614053"	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:838"	"ATP5F1E"	"OMIM:614053"	"mitochondrial complex V (ATP synthase) deficiency nuclear type 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:23"	""	""	"20566710, 25954304"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP5E0MitoATPsynth"	"2023-11-30"
"GENCC_000106-HGNC_868-OMIM_300972-HP_0001417-GENCC_100002"	"HGNC:868"	"ATP6AP1"	"MONDO:0010504"	"immunodeficiency 47"	"OMIM:300972"	"Immunodeficiency 47"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:868"	"ATP6AP1"	"OMIM:300972"	"immunodeficiency 47"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-03 20:23:09"	""	""	"27231034"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6AP10ATP6AP1def"	"2023-11-30"
"GENCC_000106-HGNC_18305-OMIM_301045-HP_0001417-GENCC_100002"	"HGNC:18305"	"ATP6AP2"	"MONDO:0026765"	"congenital disorder of glycosylation, type IIr"	"OMIM:301045"	"Congenital disorder of glycosylation, type IIr"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:18305"	"ATP6AP2"	"OMIM:301045"	"congenital disorder of glycosylation, type IIr"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:52"	""	""	"29127204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6AP20GILPC"	"2023-11-30"
"GENCC_000106-HGNC_18305-OMIM_300423-HP_0001417-GENCC_100002"	"HGNC:18305"	"ATP6AP2"	"MONDO:0010319"	"syndromic X-linked intellectual disability Hedera type"	"OMIM:300423"	"Intellectual developmental disorder, X-linked syndromic, Hedera type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:18305"	"ATP6AP2"	"OMIM:300423"	"syndromic X-linked intellectual disability Hedera type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-24 11:57:08"	""	""	"15746149, 19765681, 26467484, 28851918, 29127204, 30125339, 30985297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6AP20MRXSH"	"2023-11-30"
"GENCC_000106-HGNC_18305-OMIM_300911-HP_0000005-GENCC_100004"	"HGNC:18305"	"ATP6AP2"	"MONDO:0010482"	"X-linked parkinsonism-spasticity syndrome"	"OMIM:300911"	"?Parkinsonism with spasticity, X-linked"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18305"	"ATP6AP2"	"OMIM:300911"	"X-linked parkinsonism-spasticity syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:52"	""	""	"20629132, 23595882, 26467484"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6AP20Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_865-OMIM_619970-HP_0000006-GENCC_100002"	"HGNC:865"	"ATP6V0A1"	"MONDO:0031021"	"developmental and epileptic encephalopathy 104"	"OMIM:619970"	"Developmental and epileptic encephalopathy 104"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:865"	"ATP6V0A1"	"OMIM:619970"	"developmental and epileptic encephalopathy 104"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:30:30"	""	""	"33833240, 34909687"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V0A10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_914-OMIM_241600-HP_0000007-GENCC_100002"	"HGNC:914"	"B2M"	"MONDO:0009434"	"hypoproteinemia, hypercatabolic"	"OMIM:241600"	"Immunodeficiency 43"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:914"	"B2M"	"OMIM:241600"	"Immunodeficiency 43"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"16549777, 2112266, 25702838"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B2M0MHCIdef"	"2023-11-30"
"GENCC_000106-HGNC_18481-OMIM_219200-HP_0000007-GENCC_100002"	"HGNC:18481"	"ATP6V0A2"	"MONDO:0018163"	"autosomal recessive cutis laxa type 2A"	"OMIM:219200"	"Cutis laxa, autosomal recessive, type IIA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18481"	"ATP6V0A2"	"OMIM:219200"	"autosomal recessive cutis laxa type 2, classic type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-25 12:50:42"	""	""	"15657616, 18157129, 19321599, 27896089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V0A20CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_851-OMIM_617403-HP_0000007-GENCC_100002"	"HGNC:851"	"ATP6V1A"	"MONDO:0027451"	"autosomal recessive cutis laxa type 2D"	"OMIM:617403"	"Cutis laxa, autosomal recessive, type IID"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:851"	"ATP6V1A"	"OMIM:617403"	"autosomal recessive cutis laxa type 2D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-10 14:41:07"	""	""	"28065471, 30109123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V1A0CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_851-OMIM_618012-HP_0000006-GENCC_100002"	"HGNC:851"	"ATP6V1A"	"MONDO:0020632"	"developmental and epileptic encephalopathy 93"	"OMIM:618012"	"Developmental and epileptic encephalopathy 93"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:851"	"ATP6V1A"	"OMIM:618012"	"epileptic encephalopathy, infantile or early childhood, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-19 18:01:28"	""	""	"29668857"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V1A0EEOC"	"2023-11-30"
"GENCC_000106-HGNC_854-OMIM_618012-HP_0000006-GENCC_100002"	"HGNC:854"	"ATP6V1B2"	"MONDO:0020632"	"developmental and epileptic encephalopathy 93"	"OMIM:618012"	"Developmental and epileptic encephalopathy 93"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:854"	"ATP6V1B2"	"OMIM:618012"	"epileptic encephalopathy, infantile or early childhood, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-10 09:21:29"	""	""	"25915598, 29158550, 31655144"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V1B20Zimmerma"	"2023-11-30"
"GENCC_000106-HGNC_857-OMIM_617402-HP_0000007-GENCC_100002"	"HGNC:857"	"ATP6V1E1"	"MONDO:0027462"	"autosomal recessive cutis laxa type 2C"	"OMIM:617402"	"Cutis laxa, autosomal recessive, type IIC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:857"	"ATP6V1E1"	"OMIM:617402"	"autosomal recessive cutis laxa type 2C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"27023906, 28065471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V1E10CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_869-OMIM_300489-HP_0001417-GENCC_100002"	"HGNC:869"	"ATP7A"	"MONDO:0010338"	"X-linked distal spinal muscular atrophy type 3"	"OMIM:300489"	"Neuronopathy, distal hereditary motor, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:869"	"ATP7A"	"OMIM:300489"	"X-linked distal spinal muscular atrophy type 3"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 09:21:56"	""	""	"19194885, 20170900, 22210628, 24754450, 27549087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP7A0HMN"	"2023-11-30"
"GENCC_000106-HGNC_869-OMIM_309400-HP_0001417-GENCC_100002"	"HGNC:869"	"ATP7A"	"MONDO:0010651"	"Menkes disease"	"OMIM:309400"	"Menkes disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:869"	"ATP7A"	"OMIM:309400"	"Menkes disease"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-25 17:21:15"	""	""	"11241493, 19194885, 20652413, 21221114"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MenkesOHS"	"2023-11-30"
"GENCC_000106-HGNC_13533-OMIM_615268-HP_0000007-GENCC_100002"	"HGNC:13533"	"ATP8A2"	"MONDO:0014104"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4"	"OMIM:615268"	"Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13533"	"ATP8A2"	"OMIM:615268"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-23 08:09:57"	""	""	"20683487, 22892528, 22912588, 25590979, 26273310, 27679995, 28397838, 28454995, 28940097, 29531481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP8A20CerebHypo"	"2023-11-30"
"GENCC_000106-HGNC_3706-OMIM_211600-HP_0000007-GENCC_100002"	"HGNC:3706"	"ATP8B1"	"MONDO:0008892"	"progressive familial intrahepatic cholestasis type 1"	"OMIM:211600"	"Cholestasis, progressive familial intrahepatic 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3706"	"ATP8B1"	"OMIM:211600"	"progressive familial intrahepatic cholestasis type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 10:09:36"	""	""	"10850008, 11093741, 15239083, 19731236, 33915153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP8B10Cholesta04"	"2023-11-30"
"GENCC_000106-HGNC_7121-OMIM_249000-HP_0000007-GENCC_100002"	"HGNC:7121"	"MKS1"	"MONDO:0009571"	"Meckel syndrome, type 1"	"OMIM:249000"	"Meckel syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7121"	"MKS1"	"OMIM:249000"	"Meckel syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 08:48:19"	""	""	"17397051, 19466712"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MKS10MeckelGruber"	"2023-11-30"
"GENCC_000106-HGNC_18802-OMIM_604273-HP_0000007-GENCC_100004"	"HGNC:18802"	"ATPAF2"	"MONDO:0011421"	"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"	"OMIM:604273"	"?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18802"	"ATPAF2"	"OMIM:604273"	"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"14757859, 19933271, 30369941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATPAF20MC5def"	"2023-11-30"
"GENCC_000106-HGNC_882-OMIM_614564-HP_0000005-GENCC_100004"	"HGNC:882"	"ATR"	"MONDO:0013806"	"familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"	"OMIM:614564"	"?Cutaneous telangiectasia and cancer syndrome, familial"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:882"	"ATR"	"OMIM:614564"	"familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-26 08:50:23"	""	""	"10691732, 22341969, 22349169, 26689913, 26822949, 27084275, 27153395, 27433846, 27498913, 28017652, 28541631, 28687971, 29439820, 29625052, 29706558, 29915322, 30262796, 30293905, 32606146, 33057211, 33151324, 33558524, 34917121, 35181726, 601215"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATR0ATRrelCanc"	"2023-11-30"
"GENCC_000106-HGNC_7159-OMIM_250400-HP_0000007-GENCC_100002"	"HGNC:7159"	"MMP13"	"MONDO:0009597"	"metaphyseal chondrodysplasia, Spahr type"	"OMIM:250400"	"Metaphyseal dysplasia, Spahr type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7159"	"MMP13"	"OMIM:250400"	"Metaphyseal dysplasia, Spahr type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"15563592, 24781753, 31413057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMP130SEMDys"	"2023-11-30"
"GENCC_000106-HGNC_886-OMIM_301040-HP_0001417-GENCC_100002"	"HGNC:886"	"ATRX"	"MONDO:0010519"	"alpha thalassemia-X-linked intellectual disability syndrome"	"OMIM:301040"	"Alpha-thalassemia/impaired intellectual development syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:886"	"ATRX"	"OMIM:301040"	"alpha thalassemia-X-linked intellectual disability syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-31 14:11:34"	""	""	"10632111, 10751095, 12116232, 15508018, 15591283, 18409179, 21029860, 23681356, 23820649, 300032, 301040, 3239563, 8644709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATRX0ATRX"	"2023-11-30"
"GENCC_000106-HGNC_10548-OMIM_164400-HP_0000006-GENCC_100002"	"HGNC:10548"	"ATXN1"	"MONDO:0008119"	"spinocerebellar ataxia type 1"	"OMIM:164400"	"Spinocerebellar ataxia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10548"	"ATXN1"	"OMIM:164400"	"spinocerebellar ataxia type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:58"	""	""	"11673415, 15148151, 18337722, 18418661, 22053053, 29533923, 8198139, 8358429, 8619528"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATXN10SCA"	"2023-11-30"
"GENCC_000106-HGNC_4315-OMIM_253310-HP_0000007-GENCC_100002"	"HGNC:4315"	"GLE1"	"MONDO:0009670"	"lethal congenital contracture syndrome 1"	"OMIM:253310"	"Lethal congenital contracture syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4315"	"GLE1"	"OMIM:253310"	"Lethal congenital contracture syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-19 10:13:29"	""	""	"18204449, 1820449, 22357925, 24243016, 24961629, 27684565, 28884921, 29096039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLE10LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_10555-OMIM_183090-HP_0000006-GENCC_100002"	"HGNC:10555"	"ATXN2"	"MONDO:0008458"	"spinocerebellar ataxia type 2"	"OMIM:183090"	"Spinocerebellar ataxia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10555"	"ATXN2"	"OMIM:183090"	"spinocerebellar ataxia type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-13 16:22:50"	""	""	"12812977, 8896555, 9158145"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATXN20SCAR"	"2023-11-30"
"GENCC_000106-HGNC_7106-OMIM_109150-HP_0000006-GENCC_100002"	"HGNC:7106"	"ATXN3"	"MONDO:0007182"	"Machado-Joseph disease"	"OMIM:109150"	"Machado-Joseph disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7106"	"ATXN3"	"OMIM:109150"	"Machado-Joseph disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:08"	""	""	"15316156, 21635785, 22023810, 7874163"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATXN30MJD"	"2023-11-30"
"GENCC_000106-HGNC_10560-OMIM_164500-HP_0000006-GENCC_100002"	"HGNC:10560"	"ATXN7"	"MONDO:0016163"	"autosomal dominant cerebellar ataxia type II"	"OMIM:164500"	"Spinocerebellar ataxia 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10560"	"ATXN7"	"OMIM:164500"	"autosomal dominant cerebellar ataxia type II"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:58"	""	""	"9288099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATXN70SCAR"	"2023-11-30"
"GENCC_000106-HGNC_1480-OMIM_253600-HP_0000007-GENCC_100002"	"HGNC:1480"	"CAPN3"	"MONDO:0009675"	"autosomal recessive limb-girdle muscular dystrophy type 2A"	"OMIM:253600"	"Muscular dystrophy, limb-girdle, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1480"	"CAPN3"	"OMIM:253600"	"Muscular dystrophy, limb-girdle, autosomal recessive 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-02 18:53:35"	""	""	"10330340, 15689361, 20301490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAPN30LGMD"	"2023-11-30"
"GENCC_000106-HGNC_897-OMIM_304800-HP_0001417-GENCC_100002"	"HGNC:897"	"AVPR2"	"MONDO:0010581"	"diabetes insipidus, nephrogenic, X-linked"	"OMIM:304800"	"Diabetes insipidus, nephrogenic, 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:897"	"AVPR2"	"OMIM:304800"	"diabetes insipidus, nephrogenic, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 20:47:59"	""	""	"10820168, 11181969, 22427315, 8037205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AVPR20DiabetesInsipid"	"2023-11-30"
"GENCC_000106-HGNC_897-OMIM_300539-HP_0001417-GENCC_100002"	"HGNC:897"	"AVPR2"	"MONDO:0010356"	"nephrogenic syndrome of inappropriate antidiuresis"	"OMIM:300539"	"Nephrogenic syndrome of inappropriate antidiuresis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:897"	"AVPR2"	"OMIM:300539"	"nephrogenic syndrome of inappropriate antidiuresis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-16 15:57:43"	""	""	"15872203, 16843086, 17229917, 20159941, 20631022, 21834801, 22956819, 26131744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AVPR20NSIAD"	"2023-11-30"
"GENCC_000106-HGNC_904-OMIM_608615-HP_0000006-GENCC_100002"	"HGNC:904"	"AXIN2"	"MONDO:0012075"	"oligodontia-cancer predisposition syndrome"	"OMIM:608615"	"Oligodontia-colorectal cancer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:904"	"AXIN2"	"OMIM:608615"	"oligodontia-cancer predisposition syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 22:44:55"	""	""	"15042511, 16941501, 21416598, 23838596, 24581859, 26025668, 31632692, 36502525"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AXIN20AXIN2relCanc"	"2023-11-30"
"GENCC_000106-HGNC_914-OMIM_105200-HP_0000006-GENCC_100004"	"HGNC:914"	"B2M"	"MONDO:0007099"	"familial visceral amyloidosis"	"OMIM:105200"	"Amyloidosis, hereditary systemic 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:914"	"B2M"	"OMIM:105200"	"familial visceral amyloidosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-14 11:49:32"	""	""	"22693999, 24014031, 24338476, 26625273, 26990223"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B2M"	"2023-11-30"
"GENCC_000106-HGNC_4137-OMIM_256850-HP_0000007-GENCC_100002"	"HGNC:4137"	"GAN"	"MONDO:0009749"	"giant axonal neuropathy 1"	"OMIM:256850"	"Giant axonal neuropathy-1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4137"	"GAN"	"OMIM:256850"	"Giant axonal neuropathy-1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-28 21:08:11"	""	""	"11053687, 12655563, 14718689, 23890932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GAN0GAN"	"2023-11-30"
"GENCC_000106-HGNC_17978-OMIM_615349-HP_0000007-GENCC_100002"	"HGNC:17978"	"B3GALT6"	"MONDO:0014139"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17978"	"B3GALT6"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"23664117, 23664118"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B3GALT60EhlersDanlos"	"2023-11-30"
"GENCC_000106-HGNC_17978-OMIM_271640-HP_0000007-GENCC_100002"	"HGNC:17978"	"B3GALT6"	"MONDO:0010075"	"spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"	"OMIM:271640"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17978"	"B3GALT6"	"OMIM:271640"	"spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-04 01:05:10"	""	""	"23664117, 7209574, 8182720"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B3GALT60SEMD"	"2023-11-30"
"GENCC_000106-HGNC_924-OMIM_607091-HP_0000007-GENCC_100002"	"HGNC:924"	"B4GALT1"	"MONDO:0011772"	"B4GALT1-congenital disorder of glycosylation"	"OMIM:607091"	"Congenital disorder of glycosylation, type IId"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:924"	"B4GALT1"	"OMIM:607091"	"B4GALT1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-08 07:36:01"	""	""	"11901181, 11930273, 28139241, 30653653, 32157688, 9155011"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B4GALT10CDG"	"2023-11-30"
"GENCC_000106-HGNC_21485-OMIM_258865-HP_0000005-GENCC_100004"	"HGNC:21485"	"TBC1D32"	"MONDO:0009795"	"orofaciodigital syndrome IX"	"OMIM:258865"	"OMIM:258865"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21485"	"TBC1D32"	"OMIM:258865"	"OROFACIODIGITAL SYNDROME IX"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"15971254, 20159594, 24285566, 27894351, 29450879"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBC1D320OFD"	"2023-11-30"
"GENCC_000106-HGNC_14078-OMIM_618394-HP_0000006-GENCC_100002"	"HGNC:14078"	"BACH2"	"MONDO:0032723"	"immunodeficiency 60"	"OMIM:618394"	"Immunodeficiency 60 and autoimmunity"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14078"	"BACH2"	"OMIM:618394"	"Immunodeficiency 60 and autoimmunity"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-31 13:58:43"	""	""	"28530713, 32185379, 33864888, 37148421"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BACH20BACH2rel"	"2023-11-30"
"GENCC_000106-HGNC_18169-OMIM_259450-HP_0000007-GENCC_100002"	"HGNC:18169"	"FKBP10"	"MONDO:0009806"	"Bruck syndrome 1"	"OMIM:259450"	"Bruck syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18169"	"FKBP10"	"OMIM:259450"	"Bruck syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:23:55"	""	""	"22085994, 22689593, 22949511, 24777781, 2523859, 25238597"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FKBP100BruckSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_939-OMIM_612954-HP_0000006-GENCC_100002"	"HGNC:939"	"BAG3"	"MONDO:0013061"	"myofibrillar myopathy 6"	"OMIM:612954"	"Myopathy, myofibrillar, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:939"	"BAG3"	"OMIM:612954"	"myofibrillar myopathy 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 10:19:54"	""	""	"19085932, 20605452, 21361913, 22734908, 25208129, 36005473"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BAG30MFM"	"2023-11-30"
"GENCC_000106-HGNC_4268-OMIM_261000-HP_0000007-GENCC_100002"	"HGNC:4268"	"CBLIF"	"MONDO:0009852"	"hereditary intrinsic factor deficiency"	"OMIM:261000"	"Intrinsic factor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4268"	"CBLIF"	"OMIM:261000"	"Intrinsic factor deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"14576042, 15728292, 15738392, 22929189"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GIF0IFD"	"2023-11-30"
"GENCC_000106-HGNC_17397-OMIM_614008-HP_0000005-GENCC_100004"	"HGNC:17397"	"BANF1"	"MONDO:0013523"	"Nestor-Guillermo progeria syndrome"	"OMIM:614008"	"Nestor-Guillermo progeria syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17397"	"BANF1"	"OMIM:614008"	"Nestor-Guillermo progeria syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"21549337, 21932319, 25495845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BANF10Nestor-G"	"2023-11-30"
"GENCC_000106-HGNC_952-OMIM_114480-HP_0000006-GENCC_100002"	"HGNC:952"	"BARD1"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:952"	"BARD1"	"OMIM:114480"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-08 19:34:50"	""	""	"16825437, 19412175, 20077502, 20517688, 21344236, 21809034, 22006311, 23334666, 24549055, 25058500, 25749350, 26010302, 26315354, 26720728, 27009842, 28135145, 28161399, 28418444, 28649662, 28888541, 29988077, 30099541, 30132831, 30322717, 30862463, 31118792, 31258718, 31371347, 32091585, 32782288, 33442023, 35650591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BARD10BARD1relCanc"	"2023-11-30"
"GENCC_000106-HGNC_28093-OMIM_615995-HP_0000007-GENCC_100004"	"HGNC:28093"	"BBIP1"	"MONDO:0014446"	"Bardet-Biedl syndrome 18"	"OMIM:615995"	"Bardet-Biedl syndrome 18"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28093"	"BBIP1"	"OMIM:615995"	"Bardet-Biedl syndrome 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:57"	""	""	"24026985, 32055034"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBIP10BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_966-OMIM_209900-HP_0000007-GENCC_100002"	"HGNC:966"	"BBS1"	"MONDO:0008854"	"Bardet-Biedl syndrome 1"	"OMIM:209900"	"Bardet-Biedl syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:966"	"BBS1"	"OMIM:209900"	"Bardet-Biedl syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-03 18:23:18"	""	""	"10577921, 10577922, 12118255, 18032602, 20498079"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS10BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_26291-OMIM_615987-HP_0000007-GENCC_100002"	"HGNC:26291"	"BBS10"	"MONDO:0014438"	"Bardet-Biedl syndrome 10"	"OMIM:615987"	"Bardet-Biedl syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26291"	"BBS10"	"OMIM:615987"	"Bardet-Biedl syndrome 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-10 14:27:31"	""	""	"16582908, 20177705, 20805367, 26273430, 27659767, 280066"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS100BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_26648-OMIM_615989-HP_0000007-GENCC_100002"	"HGNC:26648"	"BBS12"	"MONDO:0014440"	"Bardet-Biedl syndrome 12"	"OMIM:615989"	"Bardet-Biedl syndrome 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26648"	"BBS12"	"OMIM:615989"	"Bardet-Biedl syndrome 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 14:51:31"	""	""	"17160889, 20177705, 20472660, 20805367, 21344540, 22958920, 27659767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS120BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_967-OMIM_615981-HP_0000007-GENCC_100002"	"HGNC:967"	"BBS2"	"MONDO:0014432"	"Bardet-Biedl syndrome 2"	"OMIM:615981"	"Bardet-Biedl syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:967"	"BBS2"	"OMIM:615981"	"Bardet-Biedl syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-05 17:36:28"	""	""	"11285252, 11567139, 15539463, 15770229, 20177705, 21344540, 24608809, 26518167, 282706, 8298649"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS20BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_967-OMIM_616562-HP_0000007-GENCC_100002"	"HGNC:967"	"BBS2"	"MONDO:0014692"	"retinitis pigmentosa 74"	"OMIM:616562"	"Retinitis pigmentosa 74"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:967"	"BBS2"	"OMIM:616562"	"retinitis pigmentosa 74"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-07 14:41:59"	""	""	"248348, 251406, 251422, 251444, 251490, 25541840, 25999675, 27058611, 28005958, 28157192"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS20RP"	"2023-11-30"
"GENCC_000106-HGNC_969-OMIM_615982-HP_0000007-GENCC_100002"	"HGNC:969"	"BBS4"	"MONDO:0014433"	"Bardet-Biedl syndrome 4"	"OMIM:615982"	"Bardet-Biedl syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:969"	"BBS4"	"OMIM:615982"	"Bardet-Biedl syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 14:43:56"	""	""	"11381270, 12016587, 15173597, 15770229, 1577705, 20177705, 20498079, 21052717, 22353939, 251008, 27894351, 7711739"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS40BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_970-OMIM_615983-HP_0000007-GENCC_100002"	"HGNC:970"	"BBS5"	"MONDO:0014434"	"Bardet-Biedl syndrome 5"	"OMIM:615983"	"Bardet-Biedl syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:970"	"BBS5"	"OMIM:615983"	"Bardet-Biedl syndrome 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-02 14:48:26"	""	""	"15137946, 16877420, 20109035, 20120035, 20177705, 21642631, 22353939, 250976, 26325687, 27708425, 29806606, 30901771"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS50BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_30000-OMIM_615986-HP_0000007-GENCC_100002"	"HGNC:30000"	"BBS9"	"MONDO:0014437"	"Bardet-Biedl syndrome 9"	"OMIM:615986"	"Bardet-Biedl syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30000"	"BBS9"	"OMIM:615986"	"Bardet-Biedl syndrome 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:30:30"	""	""	"16380913, 20177705, 21209035, 250490, 251248, 268436, 282550"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BBS90BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_30477-OMIM_261990-HP_0000005-GENCC_100004"	"HGNC:30477"	"HEPHL1"	"MONDO:0009871"	"pili torti-developmental delay-neurological abnormalities syndrome"	"OMIM:261990"	"?Abnormal hair, joint laxity, and developmental delay"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30477"	"HEPHL1"	"OMIM:261990"	"?Abnormal hair, joint laxity, and developmental delay"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:54:36"	""	""	"31125343, 31293895"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HEPHL10AH"	"2023-11-30"
"GENCC_000106-HGNC_977-OMIM_618850-HP_0000007-GENCC_100002"	"HGNC:977"	"BCAT2"	"MONDO:0100058"	"hypervalinemia and hyperleucine-isoleucinemia"	"OMIM:618850"	"Hypervalinemia and hyperleucine-isoleucinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:977"	"BCAT2"	"OMIM:618850"	"hypervalinemia and hyperleucine-isoleucinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-29 06:29:46"	""	""	"25653144, 30626930, 31177572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCAT20?Hyperva"	"2023-11-30"
"GENCC_000106-HGNC_983-OMIM_617936-HP_0000007-GENCC_100002"	"HGNC:983"	"BCHE"	"MONDO:0015270"	"butyrylcholinesterase deficiency"	"OMIM:617936"	"{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:983"	"BCHE"	"OMIM:617936"	"butyrylcholinesterase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-25 17:04:06"	""	""	"12881446, 18075469, 2339692, 25448037, 276704, 29631548, 8554068, 9110359"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCHE0BChEdef"	"2023-11-30"
"GENCC_000106-HGNC_989-OMIM_616098-HP_0000007-GENCC_100002"	"HGNC:989"	"BCL10"	"MONDO:0014491"	"immunodeficiency 37"	"OMIM:616098"	"?Immunodeficiency 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:989"	"BCL10"	"OMIM:616098"	"?Immunodeficiency 37"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-11 17:26:38"	""	""	"11163238, 25365219, 32008135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCL100CID"	"2023-11-30"
"GENCC_000106-HGNC_13222-OMIM_617237-HP_0000006-GENCC_100002"	"HGNC:13222"	"BCL11B"	"MONDO:0014981"	"immunodeficiency 49"	"OMIM:617237"	"Immunodeficiency 49, severe combined"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13222"	"BCL11B"	"OMIM:617237"	"immunodeficiency 49"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-22 12:24:24"	""	""	"29985992, 31347296, 37337996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCL11B0BCL11Bdef"	"2023-11-30"
"GENCC_000106-HGNC_13222-OMIM_617237-HP_0000005-GENCC_100004"	"HGNC:13222"	"BCL11B"	"MONDO:0014981"	"immunodeficiency 49"	"OMIM:617237"	"Immunodeficiency 49, severe combined"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13222"	"BCL11B"	"OMIM:617237"	"immunodeficiency 49"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-12-22 12:24:24"	""	""	"27959755, 29985992"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCL11B0SCID"	"2023-11-30"
"GENCC_000106-HGNC_20893-OMIM_300166-HP_0000005-GENCC_100004"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"OMIM:300166"	"Microphthalmia, syndromic 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20893"	"BCOR"	"OMIM:300166"	"microphthalmia, syndromic 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-19 23:22:50"	""	""	"15004558, 19367324, 26694549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCOR0Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_20893-OMIM_300166-HP_0001417-GENCC_100002"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"OMIM:300166"	"Microphthalmia, syndromic 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:20893"	"BCOR"	"OMIM:300166"	"microphthalmia, syndromic 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 23:22:50"	""	""	"15004558, 18795143, 19367324, 29974297, 30046887"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCOR0Oculofaciocard"	"2023-11-30"
"GENCC_000106-HGNC_25657-OMIM_301029-HP_0001417-GENCC_100002"	"HGNC:25657"	"BCORL1"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"OMIM:301029"	"Shukla-Vernon syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:25657"	"BCORL1"	"OMIM:301029"	"Shukla-Vernon syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-18 14:25:09"	""	""	"30941876, 34400773"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCORL10ID"	"2023-11-30"
"GENCC_000106-HGNC_1020-OMIM_262000-HP_0000007-GENCC_100002"	"HGNC:1020"	"BCS1L"	"MONDO:0009872"	"Bjornstad syndrome"	"OMIM:262000"	"Bjornstad syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1020"	"BCS1L"	"OMIM:262000"	"Bjornstad syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-07 08:35:01"	""	""	"17314340, 24236502, 25895478"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCS1L0Bjornstad"	"2023-11-30"
"GENCC_000106-HGNC_1020-OMIM_603358-HP_0000007-GENCC_100002"	"HGNC:1020"	"BCS1L"	"MONDO:0011308"	"GRACILE syndrome"	"OMIM:603358"	"GRACILE syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1020"	"BCS1L"	"OMIM:603358"	"GRACILE syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 13:59:26"	""	""	"12215968, 21274865"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCS1L0GRACILE"	"2023-11-30"
"GENCC_000106-HGNC_1020-OMIM_124000-HP_0000007-GENCC_100002"	"HGNC:1020"	"BCS1L"	"MONDO:0007415"	"mitochondrial complex III deficiency nuclear type 1"	"OMIM:124000"	"Mitochondrial complex III deficiency, nuclear type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1020"	"BCS1L"	"OMIM:124000"	"mitochondrial complex III deficiency nuclear type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-06 15:27:19"	""	""	"11528392, 12215968, 19162478, 19508421, 22277166, 25914718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCS1L0MC3def"	"2023-11-30"
"GENCC_000106-HGNC_12703-OMIM_611809-HP_0000007-GENCC_100002"	"HGNC:12703"	"BEST1"	"MONDO:0012733"	"autosomal recessive bestrophinopathy"	"OMIM:611809"	"Bestrophinopathy, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12703"	"BEST1"	"OMIM:611809"	"autosomal recessive bestrophinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-02 00:01:46"	""	""	"18179881, 21330666, 21825197, 23290749, 28111324, 28687848, 29668979"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BEST10Bestrophinop"	"2023-11-30"
"GENCC_000106-HGNC_12703-OMIM_153700-HP_0000006-GENCC_100002"	"HGNC:12703"	"BEST1"	"MONDO:0007931"	"vitelliform macular dystrophy 2"	"OMIM:153700"	"Macular dystrophy, vitelliform, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12703"	"BEST1"	"OMIM:153700"	"vitelliform macular dystrophy 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-27 15:19:58"	""	""	"10331951, 10854112, 11904445, 12939260, 14517959, 20053664, 21203346, 21273940, 21330666, 21878505, 22633354, 23825107, 24560797, 25878489, 28153808, 28687848, 29781975"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BEST10MacularDys"	"2023-11-30"
"GENCC_000106-HGNC_4261-OMIM_262400-HP_0000007-GENCC_100002"	"HGNC:4261"	"GH1"	"MONDO:0009876"	"isolated growth hormone deficiency type IA"	"OMIM:262400"	"Growth hormone deficiency, isolated, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4261"	"GH1"	"OMIM:262400"	"Growth hormone deficiency, isolated, type IA"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-06 08:21:41"	""	""	"10372722, 10469016, 12574219, 16355809, 17519310, 18554279, 19567534, 6273867, 8364549, 8496314, 8552145"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GH10GHD"	"2023-11-30"
"GENCC_000106-HGNC_12703-OMIM_193220-HP_0000006-GENCC_100002"	"HGNC:12703"	"BEST1"	"MONDO:0008662"	"autosomal dominant vitreoretinochoroidopathy"	"OMIM:193220"	"Vitreoretinochoroidopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12703"	"BEST1"	"OMIM:193220"	"autosomal dominant vitreoretinochoroidopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:08"	""	""	"11585313, 15452077, 18611979, 21072067, 24560797, 26771239, 26849243, 27653836, 30222024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BEST10Vitreoretinocho"	"2023-11-30"
"GENCC_000106-HGNC_1040-OMIM_611391-HP_0000007-GENCC_100002"	"HGNC:1040"	"BFSP1"	"MONDO:0012665"	"cataract 33"	"OMIM:611391"	"Cataract 33, multiple types"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1040"	"BFSP1"	"OMIM:611391"	"cataract 33"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:08"	""	""	"12454043, 14638724, 17225135, 24379646, 26694549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BFSP10CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_1040-OMIM_611391-HP_0000006-GENCC_100002"	"HGNC:1040"	"BFSP1"	"MONDO:0012665"	"cataract 33"	"OMIM:611391"	"Cataract 33, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1040"	"BFSP1"	"OMIM:611391"	"cataract 33"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:08"	""	""	"17225135, 24379646, 27307692, 28450710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BFSP10CataractCong02"	"2023-11-30"
"GENCC_000106-HGNC_1041-OMIM_611597-HP_0000006-GENCC_100002"	"HGNC:1041"	"BFSP2"	"MONDO:0012701"	"cataract 12 multiple types"	"OMIM:611597"	"Cataract 12, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1041"	"BFSP2"	"OMIM:611597"	"cataract 12 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:08"	""	""	"10729115, 10739768, 12454043, 12573667, 14638724, 15570218, 18958306, 21836522, 22935719, 24654948"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BFSP20CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_1044-OMIM_300106-HP_0001417-GENCC_100002"	"HGNC:1044"	"BGN"	"MONDO:0010248"	"X-linked spondyloepimetaphyseal dysplasia"	"OMIM:300106"	"Spondyloepimetaphyseal dysplasia, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1044"	"BGN"	"OMIM:300106"	"X-linked spondyloepimetaphyseal dysplasia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:59"	""	""	"17502576, 22834985, 23393390, 27236923, 27632686, 9731537"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BGN0Spondylo04"	"2023-11-30"
"GENCC_000106-HGNC_30074-OMIM_264090-HP_0000007-GENCC_100002"	"HGNC:30074"	"POLR3A"	"MONDO:0009910"	"Wiedemann-Rautenstrauch syndrome"	"OMIM:264090"	"Wiedemann-Rautenstrauch syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30074"	"POLR3A"	"OMIM:264090"	"Wiedemann-Rautenstrauch syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-18 14:04:30"	""	""	"27612211, 30323018, 30414627, 30450527"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR3A0WDRTS"	"2023-11-30"
"GENCC_000106-HGNC_35126-OMIM_609432-HP_0000007-GENCC_100002"	"HGNC:35126"	"BHLHA9"	"MONDO:0012271"	"mesoaxial synostotic syndactyly with phalangeal reduction"	"OMIM:609432"	"Syndactyly, mesoaxial synostotic, with phalangeal reduction"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:35126"	"BHLHA9"	"OMIM:609432"	"mesoaxial synostotic syndactyly with phalangeal reduction"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-17 12:05:46"	""	""	"147141, 24852374, 25466284, 30107244, 31152918, 600480, 602272"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BHLHA90Syndacty"	"2023-11-30"
"GENCC_000106-HGNC_19351-OMIM_601331-HP_0000005-GENCC_100004"	"HGNC:19351"	"BICC1"	"MONDO:0011037"	"renal dysplasia, cystic, susceptibility to"	"OMIM:601331"	"{Renal dysplasia, cystic, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19351"	"BICC1"	"OMIM:601331"	"renal dysplasia, cystic, susceptibility to"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-01 21:06:42"	""	""	"19666828, 21922595, 248690, 251232, 28566479, 30029678"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BICC10CAKUT"	"2023-11-30"
"GENCC_000106-HGNC_17208-OMIM_615290-HP_0000006-GENCC_100002"	"HGNC:17208"	"BICD2"	"MONDO:0014121"	"autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures"	"OMIM:615290"	"Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17208"	"BICD2"	"OMIM:615290"	"autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-28 12:03:45"	""	""	"23664116, 23664119, 23664120, 25497877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BICD20HMN"	"2023-11-30"
"GENCC_000106-HGNC_1052-OMIM_255200-HP_0000007-GENCC_100002"	"HGNC:1052"	"BIN1"	"MONDO:0009709"	"myopathy, centronuclear, 2"	"OMIM:255200"	"Centronuclear myopathy 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1052"	"BIN1"	"OMIM:255200"	"myopathy, centronuclear, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-18 15:08:29"	""	""	"12773571, 17676042, 20142620, 21129173, 24549043, 24755653, 25260562, 29950440"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BIN10CNM"	"2023-11-30"
"GENCC_000106-HGNC_1057-OMIM_613375-HP_0000006-GENCC_100004"	"HGNC:1057"	"BLK"	"MONDO:0013242"	"maturity-onset diabetes of the young type 11"	"OMIM:613375"	"Maturity-onset diabetes of the young, type 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1057"	"BLK"	"OMIM:613375"	"maturity-onset diabetes of the young type 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-12 10:05:16"	""	""	"27634015, 28095440, 28993341, 29439679, 30191644, 33046911"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BLK0Maturity02"	"2023-11-30"
"GENCC_000106-HGNC_18561-OMIM_619172-HP_0000007-GENCC_100002"	"HGNC:18561"	"BLOC1S5"	"MONDO:0030903"	"Hermansky-Pudlak syndrome 11"	"OMIM:619172"	"Hermansky-Pudlak syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18561"	"BLOC1S5"	"OMIM:619172"	"Hermansky-Pudlak syndrome 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 18:27:05"	""	""	"32565547, 34058075, 34685610"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BLOC1S50Hermansky"	"2023-11-30"
"GENCC_000106-HGNC_1062-OMIM_614156-HP_0000005-GENCC_100004"	"HGNC:1062"	"BLVRA"	"MONDO:0013595"	"hyperbiliverdinemia"	"OMIM:614156"	"Hyperbiliverdinemia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1062"	"BLVRA"	"OMIM:614156"	"Hyperbiliverdinemia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-25 13:46:10"	""	""	"19580635, 21278388"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BLVRA0Hyperbil"	"2023-11-30"
"GENCC_000106-HGNC_1068-OMIM_300510-HP_0001417-GENCC_100002"	"HGNC:1068"	"BMP15"	"MONDO:0010349"	"ovarian dysgenesis 2"	"OMIM:300510"	"Ovarian dysgenesis 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1068"	"BMP15"	"OMIM:300510"	"ovarian dysgenesis 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 21:06:16"	""	""	"11376106, 16508750, 28094433, 29169851, 29544636, 31803742, 31957178, 33095795"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMP150POF"	"2023-11-30"
"GENCC_000106-HGNC_4624-OMIM_266130-HP_0000007-GENCC_100002"	"HGNC:4624"	"GSS"	"MONDO:0009947"	"glutathione synthetase deficiency with 5-oxoprolinuria"	"OMIM:266130"	"Glutathione synthetase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4624"	"GSS"	"OMIM:266130"	"Glutathione synthetase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"12638941, 15717202, 19728142, 25851806, 266130, 29340523"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GSS0GSSDef02"	"2023-11-30"
"GENCC_000106-HGNC_1069-OMIM_112600-HP_0000005-GENCC_100004"	"HGNC:1069"	"BMP2"	"MONDO:0007216"	"brachydactyly type A2"	"OMIM:112600"	"Brachydactyly, type A2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1069"	"BMP2"	"OMIM:112600"	"brachydactyly type A2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-07-25 12:23:27"	""	""	"16109715, 18812404, 19327734, 21357617, 21671386, 24710560, 29129813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMP20Brachydactyly"	"2023-11-30"
"GENCC_000106-HGNC_1071-OMIM_607932-HP_0000006-GENCC_100002"	"HGNC:1071"	"BMP4"	"MONDO:0011936"	"microphthalmia with brain and digit anomalies"	"OMIM:607932"	"Microphthalmia, syndromic 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1071"	"BMP4"	"OMIM:607932"	"microphthalmia with brain and digit anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 08:59:52"	""	""	"18252212, 21340693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMP40Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_10536-OMIM_268900-HP_0000005-GENCC_100004"	"HGNC:10536"	"SARDH"	"MONDO:0010008"	"sarcosinemia"	"OMIM:268900"	"[Sarcosinemia]"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10536"	"SARDH"	"OMIM:268900"	"[Sarcosinemia]"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 10:31:54"	""	""	"22825317, 27001897, 30612563"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SARDH0[Sarcosi"	"2023-11-30"
"GENCC_000106-HGNC_1077-OMIM_609441-HP_0000007-GENCC_100002"	"HGNC:1077"	"BMPR1B"	"MONDO:0012274"	"acromesomelic dysplasia 3"	"OMIM:609441"	"Acromesomelic dysplasia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1077"	"BMPR1B"	"OMIM:609441"	"acromesomelic dysplasia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-25 12:26:18"	""	""	"14523231, 15781876, 15805157, 16957682, 24129431, 26105076, 27048979, 29322508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMPR1B0AcromesomDys"	"2023-11-30"
"GENCC_000106-HGNC_1077-OMIM_112600-HP_0000006-GENCC_100002"	"HGNC:1077"	"BMPR1B"	"MONDO:0007216"	"brachydactyly type A2"	"OMIM:112600"	"Brachydactyly, type A2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1077"	"BMPR1B"	"OMIM:112600"	"brachydactyly type A2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-28 19:17:03"	""	""	"14523231, 16957682, 25758993, 25776145, 28473268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMPR1B0Brachydactyly"	"2023-11-30"
"GENCC_000106-HGNC_613-OMIM_269600-HP_0000006-GENCC_100004"	"HGNC:613"	"APOE"	"MONDO:0010017"	"sea-blue histiocyte syndrome"	"OMIM:269600"	"Sea-blue histiocyte disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:613"	"APOE"	"OMIM:269600"	"Sea-blue histiocyte disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"11095479, 16094309, 208534, 22949395, 24267230, 24314356"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOE0Histiocytosis"	"2023-11-30"
"GENCC_000106-HGNC_30988-OMIM_618612-HP_0000006-GENCC_100002"	"HGNC:30988"	"BNC2"	"MONDO:0032833"	"lower urinary tract obstruction, congenital"	"OMIM:618612"	"Lower urinary tract obstruction, congenital"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30988"	"BNC2"	"OMIM:618612"	"lower urinary tract obstruction, congenital"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:09"	""	""	"129402, 22925164, 251054, 251076, 31051115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BNC20LUTO"	"2023-11-30"
"GENCC_000106-HGNC_1093-OMIM_222800-HP_0000007-GENCC_100002"	"HGNC:1093"	"BPGM"	"MONDO:0009113"	"hemolytic anemia due to diphosphoglycerate mutase deficiency"	"OMIM:222800"	"Erythrocytosis, familial, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1093"	"BPGM"	"OMIM:222800"	"hemolytic anemia due to diphosphoglycerate mutase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"1421379, 15054810, 25015942, 27651169, 29790589, 33216349"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BPGM0FamErythr"	"2023-11-30"
"GENCC_000106-HGNC_1097-OMIM_115150-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0007265"	"cardiofaciocutaneous syndrome 1"	"OMIM:115150"	"Cardiofaciocutaneous syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1097"	"BRAF"	"OMIM:115150"	"cardiofaciocutaneous syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 19:38:15"	""	""	"16439621, 18413255"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRAF0CardioFacio"	"2023-11-30"
"GENCC_000106-HGNC_1097-OMIM_613707-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0013380"	"LEOPARD syndrome 3"	"OMIM:613707"	"LEOPARD syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1097"	"BRAF"	"OMIM:613707"	"LEOPARD syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-19 09:34:48"	""	""	"16439621, 18413255"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRAF0NSML"	"2023-11-30"
"GENCC_000106-HGNC_1097-OMIM_613706-HP_0000006-GENCC_100002"	"HGNC:1097"	"BRAF"	"MONDO:0013379"	"Noonan syndrome 7"	"OMIM:613706"	"Noonan syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1097"	"BRAF"	"OMIM:613706"	"Noonan syndrome 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-06 22:07:55"	""	""	"19206169"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRAF0Noonan"	"2023-11-30"
"GENCC_000106-HGNC_21701-OMIM_614498-HP_0000007-GENCC_100002"	"HGNC:21701"	"BRAT1"	"MONDO:0013784"	"neonatal-onset encephalopathy with rigidity and seizures"	"OMIM:614498"	"Rigidity and multifocal seizure syndrome, lethal neonatal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21701"	"BRAT1"	"OMIM:614498"	"neonatal-onset encephalopathy with rigidity and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-22 17:55:58"	""	""	"22279524, 23035047, 25131622, 25319849, 25500575, 26535877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRAT10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_1100-OMIM_617883-HP_0000007-GENCC_100004"	"HGNC:1100"	"BRCA1"	"MONDO:0054748"	"Fanconi anemia, complementation group S"	"OMIM:617883"	"Fanconi anemia, complementation group S"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1100"	"BRCA1"	"OMIM:617883"	"Fanconi anemia, complementation group S"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-22 15:02:06"	""	""	"23269703, 25472942, 29712865"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRCA10Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_1100-OMIM_604370-HP_0000006-GENCC_100002"	"HGNC:1100"	"BRCA1"	"MONDO:0011450"	"breast-ovarian cancer, familial, susceptibility to, 1"	"OMIM:604370"	"{Breast-ovarian cancer, familial, 1}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1100"	"BRCA1"	"OMIM:604370"	"breast-ovarian cancer, familial, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 21:18:52"	""	""	"10433620, 11358863, 12677558, 14576434, 15197194, 16998503, 17416853, 18042939, 19261749, 20104584, 20418484, 21520273, 21725363, 22187320, 22753008, 22843421, 23099806, 23628597, 24569164, 25224030, 25524463, 25849179, 26700119, 27008870, 27306910, 28632866, 29922827, 29988077, 30287823, 30623411, 30832263, 30900310, 31131967, 32053139, 32335146, 32349445, 32676552, 7907678, 8460634, 8460636, 8751855"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRCA10HBOC"	"2023-11-30"
"GENCC_000106-HGNC_1101-OMIM_605724-HP_0000007-GENCC_100002"	"HGNC:1101"	"BRCA2"	"MONDO:0011584"	"Fanconi anemia complementation group D1"	"OMIM:605724"	"Fanconi anemia, complementation group D1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1101"	"BRCA2"	"OMIM:605724"	"Fanconi anemia complementation group D1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-11 18:50:08"	""	""	"12065746, 12228710, 14670928, 16998503, 17476307, 20104584"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRCA20Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_1101-OMIM_612555-HP_0000006-GENCC_100002"	"HGNC:1101"	"BRCA2"	"MONDO:0012933"	"breast-ovarian cancer, familial, susceptibility to, 2"	"OMIM:612555"	"{Breast-ovarian cancer, familial, 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1101"	"BRCA2"	"OMIM:612555"	"breast-ovarian cancer, familial, susceptibility to, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 19:50:51"	""	""	"10433620, 12114473, 12228710, 12373604, 12677558, 14576434, 15131399, 15197194, 16978908, 16998503, 17416853, 17476307, 18042939, 20104584, 20418484, 20459916, 20587410, 21598239, 22187320, 22678057, 23099806, 23135763, 23628597, 25849179, 26182300, 26236408, 26700119, 27306910, 28632866, 29025585, 29753700, 29922827, 30507471, 31608315, 32676552, 8091231, 8644738, 8751855, 9497246"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRCA20HBOC"	"2023-11-30"
"GENCC_000106-HGNC_1105-OMIM_617644-HP_0000005-GENCC_100004"	"HGNC:1105"	"BRDT"	"MONDO:0054725"	"spermatogenic failure 21"	"OMIM:617644"	"?Spermatogenic failure 21"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1105"	"BRDT"	"OMIM:617644"	"?Spermatogenic failure 21"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"260154, 28199965, 32469048"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRDT0AcephSperm"	"2023-11-30"
"GENCC_000106-HGNC_20473-OMIM_114480-HP_0000006-GENCC_100002"	"HGNC:20473"	"BRIP1"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20473"	"BRIP1"	"OMIM:114480"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-19 15:39:09"	""	""	"17033622, 19127258, 21964575, 24556621, 26315354, 26720728, 26786923, 26921362, 27074266, 27296296, 27433846, 27701467, 28418444, 28649662, 28657667, 28888541, 29025585, 29356034, 29368626, 29478780, 29625052, 29988077, 30099541, 30256826, 30267214, 30414346, 30507471, 30733081, 30809968, 31064327, 31206626, 31822495, 32162684, 32359370, 32708810, 32830346, 32853339, 32970524, 33115781, 33619228, 34897210"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRIP10BRIP1relCanc"	"2023-11-30"
"GENCC_000106-HGNC_20473-OMIM_609054-HP_0000007-GENCC_100002"	"HGNC:20473"	"BRIP1"	"MONDO:0012187"	"Fanconi anemia complementation group J"	"OMIM:609054"	"Fanconi anemia, complementation group J"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20473"	"BRIP1"	"OMIM:609054"	"Fanconi anemia complementation group J"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"16116423, 21345144, 24040146"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRIP10Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_15832-OMIM_270685-HP_0000006-GENCC_100002"	"HGNC:15832"	"BSCL2"	"MONDO:0010043"	"hereditary spastic paraplegia 17"	"OMIM:270685"	"Silver spastic paraplegia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15832"	"BSCL2"	"OMIM:270685"	"Silver spastic paraplegia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:55:38"	""	""	"17387721"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BSCL20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_1393-OMIM_300071-HP_0001417-GENCC_100002"	"HGNC:1393"	"CACNA1F"	"MONDO:0010241"	"congenital stationary night blindness 2A"	"OMIM:300071"	"Night blindness, congenital stationary (incomplete), 2A, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1393"	"CACNA1F"	"OMIM:300071"	"Night blindness, congenital stationary (incomplete), 2A, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-07 07:30:53"	""	""	"11281458, 20301423, 22183355, 22735794, 23714322, 9662399"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1F0NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_15832-OMIM_269700-HP_0000007-GENCC_100002"	"HGNC:15832"	"BSCL2"	"MONDO:0010020"	"congenital generalized lipodystrophy type 2"	"OMIM:269700"	"Lipodystrophy, congenital generalized, type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15832"	"BSCL2"	"OMIM:269700"	"congenital generalized lipodystrophy type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 00:15:30"	""	""	"11479539, 12362029, 18458148, 24358199"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BSCL20SC0BSCL0t1t2"	"2023-11-30"
"GENCC_000106-HGNC_8768-OMIM_300232-HP_0001417-GENCC_100002"	"HGNC:8768"	"AIFM1"	"MONDO:0010275"	"spondyloepimetaphyseal dysplasia, Bieganski type"	"OMIM:300232"	"Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8768"	"AIFM1"	"OMIM:300232"	"Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:52"	""	""	"28842795"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIFM10HSMD"	"2023-11-30"
"GENCC_000106-HGNC_16512-OMIM_602522-HP_0000007-GENCC_100002"	"HGNC:16512"	"BSND"	"MONDO:0011242"	"Bartter disease type 4A"	"OMIM:602522"	"Bartter syndrome, type 4a"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16512"	"BSND"	"OMIM:602522"	"Bartter disease type 4A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"11687798, 19646679, 2512770, 251328, 251442"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BSND0Bartter"	"2023-11-30"
"GENCC_000106-HGNC_13862-OMIM_619009-HP_0000007-GENCC_100002"	"HGNC:13862"	"BTG4"	"MONDO:0033564"	"oocyte maturation defect 8"	"OMIM:619009"	"Oocyte/zygote/embryo maturation arrest 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13862"	"BTG4"	"OMIM:619009"	"oocyte maturation defect 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 22:58:19"	""	""	"32502391"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BTG40FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_13867-OMIM_300310-HP_0000005-GENCC_100004"	"HGNC:13867"	"SH3KBP1"	"MONDO:0010296"	"immunodeficiency 61"	"OMIM:300310"	"?Immunodeficiency 61"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13867"	"SH3KBP1"	"OMIM:300310"	"?Immunodeficiency 61"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:54:44"	""	""	"21708930, 29636373"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SH3KBP10SH3KBP1rel"	"2023-11-30"
"GENCC_000106-HGNC_10295-OMIM_300455-HP_0001417-GENCC_100002"	"HGNC:10295"	"RPGR"	"MONDO:0010330"	"primary ciliary dyskinesia-retinitis pigmentosa syndrome"	"OMIM:300455"	"Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10295"	"RPGR"	"OMIM:300455"	"Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:10"	""	""	"12920075, 16055928"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPGR0PCD"	"2023-11-30"
"GENCC_000106-HGNC_1149-OMIM_257300-HP_0000007-GENCC_100002"	"HGNC:1149"	"BUB1B"	"MONDO:0009759"	"mosaic variegated aneuploidy syndrome 1"	"OMIM:257300"	"Mosaic variegated aneuploidy syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1149"	"BUB1B"	"OMIM:257300"	"mosaic variegated aneuploidy syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:14:32"	""	""	"10429359, 10877982, 15475955, 18548531, 21190457, 21552266, 24259107, 28611924, 31053147, 31081598, 32884756"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BUB1B0MVA"	"2023-11-30"
"GENCC_000106-HGNC_1152-OMIM_616812-HP_0000007-GENCC_100002"	"HGNC:1152"	"POPDC1"	"MONDO:0014782"	"autosomal recessive limb-girdle muscular dystrophy type 2X"	"OMIM:616812"	"Muscular dystrophy, limb-girdle, autosomal recessive 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1152"	"BVES"	"OMIM:616812"	"autosomal recessive limb-girdle muscular dystrophy type 2X"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 14:36:56"	""	""	"26642364, 31119192"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BVES0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_23405-OMIM_615179-HP_0000007-GENCC_100002"	"HGNC:23405"	"LRMDA"	"MONDO:0014070"	"oculocutaneous albinism type 7"	"OMIM:615179"	"Albinism, oculocutaneous, type VII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23405"	"LRMDA"	"OMIM:615179"	"oculocutaneous albinism type 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-29 10:06:20"	""	""	"23395477, 29345414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C10orf110Albinism02"	"2023-11-30"
"GENCC_000106-HGNC_1393-OMIM_300476-HP_0001417-GENCC_100002"	"HGNC:1393"	"CACNA1F"	"MONDO:0010335"	"X-linked cone-rod dystrophy 3"	"OMIM:300476"	"Cone-rod dystrophy, X-linked, 3"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1393"	"CACNA1F"	"OMIM:300476"	"Cone-rod dystrophy, X-linked, 3"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:08"	""	""	"16505158, 23776498, 24124559, 25356976, 26992781"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1F0ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_20145-OMIM_300500-HP_0001417-GENCC_100002"	"HGNC:20145"	"GPR143"	"MONDO:0021019"	"X-linked recessive ocular albinism"	"OMIM:300500"	"Ocular albinism, type I, Nettleship-Falls type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:20145"	"GPR143"	"OMIM:300500"	"Ocular albinism, type I, Nettleship-Falls type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:15:10"	""	""	"15965158, 16023414, 21541274, 28211458, 29345414, 9529334, 9887374"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPR1430Albinism"	"2023-11-30"
"GENCC_000106-HGNC_2877-OMIM_300511-HP_0000005-GENCC_100004"	"HGNC:2877"	"DIAPH2"	"MONDO:0010350"	"premature ovarian failure 2A"	"OMIM:300511"	"?Premature ovarian failure 2A"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2877"	"DIAPH2"	"OMIM:300511"	"?Premature ovarian failure 2A"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-12-24 13:09:53"	""	""	"28273668, 30689869, 9497258"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DIAPH20Prematur06"	"2023-11-30"
"GENCC_000106-HGNC_26784-OMIM_613559-HP_0000007-GENCC_100002"	"HGNC:26784"	"MTRFR"	"MONDO:0013306"	"combined oxidative phosphorylation defect type 7"	"OMIM:613559"	"Combined oxidative phosphorylation deficiency 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26784"	"MTRFR"	"OMIM:613559"	"combined oxidative phosphorylation defect type 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:49"	""	""	"20598281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C12ORF650OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_14561-OMIM_300607-HP_0001417-GENCC_100002"	"HGNC:14561"	"ARHGEF9"	"MONDO:0010375"	"developmental and epileptic encephalopathy, 8"	"OMIM:300607"	"Developmental and epileptic encephalopathy 8"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:14561"	"ARHGEF9"	"OMIM:300607"	"Developmental and epileptic encephalopathy 8"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 09:51:45"	""	""	"15215304, 21633362, 2567804, 25678704, 26834553, 28589176, 29130122, 291301322"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARHGEF90EIEE"	"2023-11-30"
"GENCC_000106-HGNC_2578-OMIM_300645-HP_0000005-GENCC_100004"	"HGNC:2578"	"CYBB"	"MONDO:0010389"	"X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"	"OMIM:300645"	"Immunodeficiency 34, mycobacteriosis, X-linked"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2578"	"CYBB"	"OMIM:300645"	"Immunodeficiency 34, mycobacteriosis, X-linked"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:08"	""	""	"17293536, 21278736"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYBB0Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_3702-OMIM_300717-HP_0001417-GENCC_100002"	"HGNC:3702"	"FHL1"	"MONDO:0010414"	"myopathy, reducing body, X-linked, early-onset, severe"	"OMIM:300717"	"Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3702"	"FHL1"	"OMIM:300717"	"Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:19:46"	""	""	"18179888, 18179901, 18274675, 22094483, 24634512, 34366191"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FHL10MFM"	"2023-11-30"
"GENCC_000106-HGNC_2435-OMIM_300770-HP_0000007-GENCC_100002"	"HGNC:2435"	"CSF2RA"	"MONDO:0010424"	"surfactant metabolism dysfunction, pulmonary, 4"	"OMIM:300770"	"Surfactant metabolism dysfunction, pulmonary, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2435"	"CSF2RA"	"OMIM:300770"	"Surfactant metabolism dysfunction, pulmonary, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:08"	""	""	"18955570, 20622029, 21849033, 25425184, 8202532"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSF2RA0PulmAlvProt"	"2023-11-30"
"GENCC_000106-HGNC_20145-OMIM_300814-HP_0001417-GENCC_100002"	"HGNC:20145"	"GPR143"	"MONDO:0010435"	"nystagmus 6, congenital, X-linked"	"OMIM:300814"	"Nystagmus 6, congenital, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:20145"	"GPR143"	"OMIM:300814"	"Nystagmus 6, congenital, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 14:00:31"	""	""	"18523664, 18978956, 19390656, 26160353"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPR1430Nystagmus"	"2023-11-30"
"GENCC_000106-HGNC_25443-OMIM_614298-HP_0000007-GENCC_100002"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"OMIM:614298"	"Neurodegeneration with brain iron accumulation 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25443"	"C19orf12"	"OMIM:614298"	"neurodegeneration with brain iron accumulation 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-04 22:03:31"	""	""	"21981780, 23269600, 24586779, 28042406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C19orf120NBIA"	"2023-11-30"
"GENCC_000106-HGNC_25443-OMIM_615043-HP_0000007-GENCC_100004"	"HGNC:25443"	"C19orf12"	"MONDO:0014024"	"hereditary spastic paraplegia 43"	"OMIM:615043"	"?Spastic paraplegia 43, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25443"	"C19orf12"	"OMIM:615043"	"hereditary spastic paraplegia 43"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-01-25 14:08:52"	""	""	"20039086, 23857908, 26539891, 33394258"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C19orf120SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_10432-OMIM_300844-HP_0001417-GENCC_100002"	"HGNC:10432"	"RPS6KA3"	"MONDO:0010447"	"intellectual disability, X-linked 19"	"OMIM:300844"	"Intellectual developmental disorder, X-linked 19"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10432"	"RPS6KA3"	"OMIM:300844"	"Intellectual developmental disorder, X-linked 19"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-22 08:57:19"	""	""	"10319851, 17100996, 171009960"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS6KA30ID"	"2023-11-30"
"GENCC_000106-HGNC_1241-OMIM_613652-HP_0000007-GENCC_100002"	"HGNC:1241"	"C1QA"	"MONDO:0013343"	"C1Q deficiency"	"OMIM:613652"	"C1q deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1241"	"C1QA"	"OMIM:613652"	"C1Q deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"21654842, 7594474, 8840296, 9590289"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C1QA0ClassicCompDef"	"2023-11-30"
"GENCC_000106-HGNC_1242-OMIM_613652-HP_0000007-GENCC_100002"	"HGNC:1242"	"C1QB"	"MONDO:0013343"	"C1Q deficiency"	"OMIM:613652"	"C1q deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1242"	"C1QB"	"OMIM:613652"	"C1Q deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 17:57:02"	""	""	"23651859, 24160257, 25454803, 2894352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C1QB0ClassicCompDef"	"2023-11-30"
"GENCC_000106-HGNC_1245-OMIM_613652-HP_0000007-GENCC_100002"	"HGNC:1245"	"C1QC"	"MONDO:0013343"	"C1Q deficiency"	"OMIM:613652"	"C1q deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1245"	"C1QC"	"OMIM:613652"	"C1Q deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 17:58:03"	""	""	"19965977, 30008451, 8630118"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C1QC0ClassicCompDef"	"2023-11-30"
"GENCC_000106-HGNC_28880-OMIM_300853-HP_0001417-GENCC_100002"	"HGNC:28880"	"MAGT1"	"MONDO:0010455"	"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"	"OMIM:300853"	"Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:28880"	"MAGT1"	"OMIM:300853"	"Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 15:15:01"	""	""	"21796205, 24550228, 25313976, 25504528, 25956530"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAGT10XMENSyn"	"2023-11-30"
"GENCC_000106-HGNC_1246-OMIM_130080-HP_0000006-GENCC_100002"	"HGNC:1246"	"C1R"	"MONDO:0020684"	"Ehlers-Danlos syndrome, periodontal type 1"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1246"	"C1R"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 11:37:32"	""	""	"27745832, 30025171, 30535813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C1R0EDS"	"2023-11-30"
"GENCC_000106-HGNC_1247-OMIM_613783-HP_0000007-GENCC_100002"	"HGNC:1247"	"C1S"	"MONDO:0013419"	"complement component C1s deficiency"	"OMIM:613783"	"C1s deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1247"	"C1S"	"OMIM:613783"	"complement component C1s deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 15:34:18"	""	""	"11390518, 18062908, 9856483, 9973493"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C1S0ClassicCompDef"	"2023-11-30"
"GENCC_000106-HGNC_1247-OMIM_617174-HP_0000006-GENCC_100002"	"HGNC:1247"	"C1S"	"MONDO:0014954"	"Ehlers-Danlos syndrome, periodontal type 2"	"OMIM:617174"	"Ehlers-Danlos syndrome, periodontal type, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1247"	"C1S"	"OMIM:617174"	"Ehlers-Danlos syndrome, periodontal type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-26 14:31:40"	""	""	"27745832"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C1S0EDS"	"2023-11-30"
"GENCC_000106-HGNC_1248-OMIM_217000-HP_0000007-GENCC_100002"	"HGNC:1248"	"C2"	"MONDO:0009006"	"complement component 2 deficiency"	"OMIM:217000"	"C2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1248"	"C2"	"OMIM:217000"	"C2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"1577763, 22773339, 24029428, 9616367"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C20ClassicCompDef"	"2023-11-30"
"GENCC_000106-HGNC_24564-OMIM_615948-HP_0000007-GENCC_100002"	"HGNC:24564"	"C2CD3"	"MONDO:0014413"	"orofaciodigital syndrome type 14"	"OMIM:615948"	"Orofaciodigital syndrome XIV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24564"	"C2CD3"	"OMIM:615948"	"orofaciodigital syndrome type 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:35:45"	""	""	"19004860, 24997988, 251156, 251480, 27094867, 281200"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C2CD30OFD"	"2023-11-30"
"GENCC_000106-HGNC_26799-OMIM_619423-HP_0000007-GENCC_100002"	"HGNC:26799"	"C2orf69"	"MONDO:0030378"	"combined oxidative phosphorylation deficiency 53"	"OMIM:619423"	"Combined oxidative phosphorylation deficiency 53"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26799"	"C2orf69"	"OMIM:619423"	"Combined oxidative phosphorylation deficiency 53"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-22 15:20:30"	""	""	"33945503, 34038740"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C2orf690C2orf69rel"	"2023-11-30"
"GENCC_000106-HGNC_1318-OMIM_613779-HP_0000007-GENCC_100002"	"HGNC:1318"	"C3"	"MONDO:0013417"	"complement component 3 deficiency"	"OMIM:613779"	"C3 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1318"	"C3"	"OMIM:613779"	"complement component 3 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-14 13:43:01"	""	""	"11139258, 12462331, 1350678, 14639503, 21501302, 2212005, 7923934"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C30C3def"	"2023-11-30"
"GENCC_000106-HGNC_18308-OMIM_300872-HP_0000005-GENCC_100004"	"HGNC:18308"	"TMLHE"	"MONDO:0010469"	"epsilon-trimethyllysine hydroxylase deficiency"	"OMIM:300872"	"{Autism, susceptibility to, X-linked 6}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18308"	"TMLHE"	"OMIM:300872"	"{Autism, susceptibility to, X-linked 6}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:57"	""	""	"21865298, 22566635, 23092983, 23352160, 27240532, 31474318"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMLHE0TMLHErel"	"2023-11-30"
"GENCC_000106-HGNC_11957-OMIM_300895-HP_0001417-GENCC_100002"	"HGNC:11957"	"MED12"	"MONDO:0010477"	"blepharophimosis - intellectual disability syndrome, MKB type"	"OMIM:300895"	"Ohdo syndrome, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11957"	"MED12"	"OMIM:300895"	"Ohdo syndrome, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-27 06:30:29"	""	""	"23395478, 24715367, 26338144, 27500536, 28369444, 28794916"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED120Ohdo"	"2023-11-30"
"GENCC_000106-HGNC_1323-OMIM_614380-HP_0000007-GENCC_100002"	"HGNC:1323"	"C4A"	"MONDO:0013721"	"complement component 4a deficiency"	"OMIM:614380"	"C4a deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1323"	"C4A"	"OMIM:614380"	"complement component 4a deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"15294999, 17503323, 19279649, 26814708, 8473511, 9796739"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C4A0C4adef"	"2023-11-30"
"GENCC_000106-HGNC_26300-OMIM_614832-HP_0000007-GENCC_100002"	"HGNC:26300"	"ODAPH"	"MONDO:0013906"	"amelogenesis imperfecta hypomaturation type 2A4"	"OMIM:614832"	"Amelogenesis imperfecta, type IIA4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26300"	"ODAPH"	"OMIM:614832"	"amelogenesis imperfecta hypomaturation type 2A4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22901946, 27558265"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C4orf260AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_9091-OMIM_300910-HP_0001417-GENCC_100002"	"HGNC:9091"	"PLS3"	"MONDO:0018315"	"X-linked osteoporosis with fractures"	"OMIM:300910"	"Bone mineral density QTL18, osteoporosis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9091"	"PLS3"	"OMIM:300910"	"Bone mineral density QTL18, osteoporosis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 08:28:48"	""	""	"24088043, 24616189, 25209159, 27566442, 28378289, 28748388, 28866630, 29884797, 30283887, 30405713, 33166085, 35752817, 4088043"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLS30OI"	"2023-11-30"
"GENCC_000106-HGNC_1339-OMIM_612446-HP_0000007-GENCC_100002"	"HGNC:1339"	"C6"	"MONDO:0012908"	"complement component 6 deficiency"	"OMIM:612446"	"C6 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1339"	"C6"	"OMIM:612446"	"C6 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 23:46:39"	""	""	"17257682, 23537992, 24378253, 9472666, 9856498"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C60TermCompDef"	"2023-11-30"
"GENCC_000106-HGNC_1346-OMIM_610102-HP_0000007-GENCC_100002"	"HGNC:1346"	"C7"	"MONDO:0012412"	"complement component 7 deficiency"	"OMIM:610102"	"C7 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1346"	"C7"	"OMIM:610102"	"complement component 7 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-16 21:22:17"	""	""	"15554930, 16771861, 17407100, 20591074, 8871666, 9218625, 9856499"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C70TermCompDef"	"2023-11-30"
"GENCC_000106-HGNC_1352-OMIM_613790-HP_0000007-GENCC_100002"	"HGNC:1352"	"C8A"	"MONDO:0013422"	"type I complement component 8 deficiency"	"OMIM:613790"	"C8 deficiency, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1352"	"C8A"	"OMIM:613790"	"type I complement component 8 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"32769119, 9759902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C8A0C8def"	"2023-11-30"
"GENCC_000106-HGNC_1353-OMIM_613789-HP_0000007-GENCC_100002"	"HGNC:1353"	"C8B"	"MONDO:0013421"	"type II complement component 8 deficiency"	"OMIM:613789"	"C8 deficiency, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1353"	"C8B"	"OMIM:613789"	"type II complement component 8 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-18 07:15:54"	""	""	"19434484, 27183977, 7594510, 8098723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C8B0TermCompDef"	"2023-11-30"
"GENCC_000106-HGNC_27232-OMIM_614500-HP_0000007-GENCC_100002"	"HGNC:27232"	"CFAP418"	"MONDO:0013786"	"cone-rod dystrophy 16"	"OMIM:614500"	"Cone-rod dystrophy 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27232"	"CFAP418"	"OMIM:614500"	"cone-rod dystrophy 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 15:11:46"	""	""	"20301590, 22177090, 25802487, 26835369, 27008867"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C8orf370RP"	"2023-11-30"
"GENCC_000106-HGNC_1358-OMIM_613825-HP_0000007-GENCC_100002"	"HGNC:1358"	"C9"	"MONDO:0013445"	"complement component 9 deficiency"	"OMIM:613825"	"C9 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1358"	"C9"	"OMIM:613825"	"complement component 9 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-29 11:33:17"	""	""	"9144525, 9570574, 9634479"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C90TermCompDef"	"2023-11-30"
"GENCC_000106-HGNC_28337-OMIM_105550-HP_0000006-GENCC_100002"	"HGNC:28337"	"C9orf72"	"MONDO:0007105"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"OMIM:105550"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28337"	"C9orf72"	"OMIM:105550"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-11 19:27:56"	""	""	"25737153, 28319737, 28522837"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C9orf720FTD"	"2023-11-30"
"GENCC_000106-HGNC_1373-OMIM_259730-HP_0000007-GENCC_100002"	"HGNC:1373"	"CA2"	"MONDO:0009818"	"autosomal recessive osteopetrosis 3"	"OMIM:259730"	"Osteopetrosis, autosomal recessive 3, with renal tubular acidosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1373"	"CA2"	"OMIM:259730"	"autosomal recessive osteopetrosis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-17 14:00:08"	""	""	"15300855, 251064, 251400, 25720518"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CA20CA2def"	"2023-11-30"
"GENCC_000106-HGNC_5004-OMIM_300915-HP_0000005-GENCC_100004"	"HGNC:5004"	"HMGB3"	"MONDO:0010485"	"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"	"OMIM:300915"	"?Microphthalmia, syndromic 13"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5004"	"HMGB3"	"OMIM:300915"	"?Microphthalmia, syndromic 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:57"	""	""	"15358624, 24993872"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMGB30Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_1388-OMIM_108500-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0007163"	"episodic ataxia type 2"	"OMIM:108500"	"Episodic ataxia, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1388"	"CACNA1A"	"OMIM:108500"	"episodic ataxia type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-11-01 02:33:34"	""	""	"10371528, 19486177, 19864665, 20129625, 28566750"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1A0EA2"	"2023-11-30"
"GENCC_000106-HGNC_1388-OMIM_617106-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0014917"	"developmental and epileptic encephalopathy, 42"	"OMIM:617106"	"Developmental and epileptic encephalopathy 42"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1388"	"CACNA1A"	"OMIM:617106"	"developmental and epileptic encephalopathy, 42"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:25:50"	""	""	"20156848, 21703448, 22942164, 25735478, 25784583, 26795593, 27212419, 27250579, 27476654"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1A0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_1388-OMIM_141500-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0020756"	"migraine, familial hemiplegic, 1"	"OMIM:141500"	"Migraine, familial hemiplegic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1388"	"CACNA1A"	"OMIM:141500"	"migraine, familial hemiplegic, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 18:12:25"	""	""	"10371528, 11439943, 17119788, 19486177, 20129625, 20837964, 21458376, 22969264, 23203776, 25274239, 29343472, 8898206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1A0FHM"	"2023-11-30"
"GENCC_000106-HGNC_1388-OMIM_183086-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0008457"	"spinocerebellar ataxia type 6"	"OMIM:183086"	"Spinocerebellar ataxia 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1388"	"CACNA1A"	"OMIM:183086"	"spinocerebellar ataxia type 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-18 13:57:17"	""	""	"9302278, 9403487"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1A0SCA6"	"2023-11-30"
"GENCC_000106-HGNC_1389-OMIM_618497-HP_0000007-GENCC_100002"	"HGNC:1389"	"CACNA1B"	"MONDO:0032784"	"neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"OMIM:618497"	"Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1389"	"CACNA1B"	"OMIM:618497"	"neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"30982612"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1B0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_7096-OMIM_300928-HP_0000005-GENCC_100004"	"HGNC:7096"	"MID2"	"MONDO:0010489"	"intellectual disability, X-linked 101"	"OMIM:300928"	"?Intellectual developmental disorder, X-linked 101"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7096"	"MID2"	"OMIM:300928"	"?Intellectual developmental disorder, X-linked 101"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:08"	""	""	"24115387, 25956375, 28454995, 31130284, 31951325"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MID20XLID"	"2023-11-30"
"GENCC_000106-HGNC_1390-OMIM_611875-HP_0000006-GENCC_100004"	"HGNC:1390"	"CACNA1C"	"MONDO:0012742"	"Brugada syndrome 3"	"OMIM:611875"	"Brugada syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1390"	"CACNA1C"	"OMIM:611875"	"Brugada syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 09:33:05"	""	""	"17224476, 20817017"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1C0Brugada"	"2023-11-30"
"GENCC_000106-HGNC_1390-OMIM_601005-HP_0000006-GENCC_100002"	"HGNC:1390"	"CACNA1C"	"MONDO:0010979"	"Timothy syndrome"	"OMIM:601005"	"Timothy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1390"	"CACNA1C"	"OMIM:601005"	"Timothy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-15 15:17:42"	""	""	"15454078, 15863612, 22106044, 23677916"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1C0Timothy"	"2023-11-30"
"GENCC_000106-HGNC_1391-OMIM_615474-HP_0000006-GENCC_100002"	"HGNC:1391"	"CACNA1D"	"MONDO:0014200"	"aldosterone-producing adenoma with seizures and neurological abnormalities"	"OMIM:615474"	"Primary aldosteronism, seizures, and neurologic abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1391"	"CACNA1D"	"OMIM:615474"	"aldosterone-producing adenoma with seizures and neurological abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-11 07:03:17"	""	""	"10929716, 23913001, 28318089, 28726809, 29286531, 30698561"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1D0Aldosteronism"	"2023-11-30"
"GENCC_000106-HGNC_1391-OMIM_614896-HP_0000007-GENCC_100002"	"HGNC:1391"	"CACNA1D"	"MONDO:0013960"	"sinoatrial node dysfunction and deafness"	"OMIM:614896"	"Sinoatrial node dysfunction and deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1391"	"CACNA1D"	"OMIM:614896"	"sinoatrial node dysfunction and deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-11 14:55:21"	""	""	"10929716, 30498240"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1D0SANDD"	"2023-11-30"
"GENCC_000106-HGNC_1393-OMIM_300600-HP_0001417-GENCC_100002"	"HGNC:1393"	"CACNA1F"	"MONDO:0010371"	"Aland island eye disease"	"OMIM:300600"	"Aland Island eye disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1393"	"CACNA1F"	"OMIM:300600"	"Aland island eye disease"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-07 07:21:46"	""	""	"17525176, 22194652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1F0AIED"	"2023-11-30"
"GENCC_000106-HGNC_11535-OMIM_300966-HP_0001417-GENCC_100002"	"HGNC:11535"	"TAF1"	"MONDO:0010500"	"intellectual disability, X-linked, syndromic 33"	"OMIM:300966"	"Intellectual developmental disorder, X-linked syndromic 33"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11535"	"TAF1"	"OMIM:300966"	"Intellectual developmental disorder, X-linked syndromic 33"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:11"	""	""	"25587064, 25644381, 25679214, 26637982"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAF10TAF1-IDFD"	"2023-11-30"
"GENCC_000106-HGNC_1394-OMIM_618087-HP_0000006-GENCC_100002"	"HGNC:1394"	"CACNA1G"	"MONDO:0060758"	"spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	"OMIM:618087"	"Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1394"	"CACNA1G"	"OMIM:618087"	"spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 22:49:51"	""	""	"29878067, 31836334"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1G0InfantSpinocer"	"2023-11-30"
"GENCC_000106-HGNC_1394-OMIM_616795-HP_0000006-GENCC_100002"	"HGNC:1394"	"CACNA1G"	"MONDO:0014776"	"spinocerebellar ataxia type 42"	"OMIM:616795"	"Spinocerebellar ataxia 42"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1394"	"CACNA1G"	"OMIM:616795"	"spinocerebellar ataxia type 42"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-08-16 13:08:06"	""	""	"26456284, 26715324, 48652875, 48655493"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1G0SCA"	"2023-11-30"
"GENCC_000106-HGNC_29347-OMIM_300982-HP_0001417-GENCC_100002"	"HGNC:29347"	"KLHL15"	"MONDO:0010508"	"intellectual disability, X-linked 103"	"OMIM:300982"	"Intellectual developmental disorder, X-linked 103"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:29347"	"KLHL15"	"OMIM:300982"	"Intellectual developmental disorder, X-linked 103"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-18 15:09:32"	""	""	"24042839, 24817631, 25644381, 26539891, 27087860, 28135719, 28191890, 37059329"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHL150ID"	"2023-11-30"
"GENCC_000106-HGNC_1395-OMIM_611942-HP_0000006-GENCC_100004"	"HGNC:1395"	"CACNA1H"	"MONDO:0012763"	"epilepsy, childhood absence, susceptibility to, 6"	"OMIM:611942"	"{Epilepsy, idiopathic generalized, susceptibility to, 6}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1395"	"CACNA1H"	"OMIM:611942"	"epilepsy, childhood absence, susceptibility to, 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-08 13:00:33"	""	""	"12891677, 14631046, 14729682, 15048902, 17156077, 17696120, 22206818, 24277868, 24778262, 29588962, 29924869, 29948376, 372981605"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1H0Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_28570-OMIM_300991-HP_0001417-GENCC_100002"	"HGNC:28570"	"DNAAF6"	"MONDO:0010517"	"ciliary dyskinesia, primary, 36, X-linked"	"OMIM:300991"	"Ciliary dyskinesia, primary, 36, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:28570"	"DNAAF6"	"OMIM:300991"	"Ciliary dyskinesia, primary, 36, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:22"	""	""	"28041644, 28176794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIH1D30PCD"	"2023-11-30"
"GENCC_000106-HGNC_1397-OMIM_170400-HP_0000006-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0042979"	"hypokalemic periodic paralysis, type 1"	"OMIM:170400"	"Hypokalemic periodic paralysis, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1397"	"CACNA1S"	"OMIM:170400"	"hypokalemic periodic paralysis, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-06 06:24:42"	""	""	"15534250, 17330043, 18835861, 19118277, 19225109, 21845430, 23187123, 8605978, 9512357"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1S0HOKPP"	"2023-11-30"
"GENCC_000106-HGNC_1397-OMIM_601887-HP_0000006-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0011163"	"malignant hyperthermia, susceptibility to, 5"	"OMIM:601887"	"{Malignant hyperthermia susceptibility 5}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1397"	"CACNA1S"	"OMIM:601887"	"malignant hyperthermia, susceptibility to, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 09:29:21"	""	""	"11260227, 15201141, 19825159, 20861472, 22547813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1S0MaligHypertherm"	"2023-11-30"
"GENCC_000106-HGNC_1397-OMIM_620246-HP_0000007-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0859514"	"congenital myopathy 18"	"OMIM:620246"	"Congenital myopathy 18 due to dihydropyridine receptor defect"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1397"	"CACNA1S"	"OMIM:620246"	"Congenital myopathy 18 due to dihydropyridine receptor defect"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-01 14:13:13"	""	""	"26247046, 28012042, 33060286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1S0Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_1397-OMIM_620246-HP_0000006-GENCC_100002"	"HGNC:1397"	"CACNA1S"	"MONDO:0859514"	"congenital myopathy 18"	"OMIM:620246"	"Congenital myopathy 18 due to dihydropyridine receptor defect"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1397"	"CACNA1S"	"OMIM:620246"	"Congenital myopathy 18 due to dihydropyridine receptor defect"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-01 14:13:13"	""	""	"28012042"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1S0Myopathy02"	"2023-11-30"
"GENCC_000106-HGNC_1399-OMIM_620149-HP_0000007-GENCC_100004"	"HGNC:1399"	"CACNA2D1"	"MONDO:0859327"	"developmental and epileptic encephalopathy 110"	"OMIM:620149"	"Developmental and epileptic encephalopathy 110"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1399"	"CACNA2D1"	"OMIM:620149"	"Developmental and epileptic encephalopathy 110"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-07 20:11:22"	""	""	"25363768, 28097321"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA2D10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_1400-OMIM_618501-HP_0000007-GENCC_100002"	"HGNC:1400"	"CACNA2D2"	"MONDO:0032788"	"cerebellar atrophy with seizures and variable developmental delay"	"OMIM:618501"	"Cerebellar atrophy with seizures and variable developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1400"	"CACNA2D2"	"OMIM:618501"	"cerebellar atrophy with seizures and variable developmental delay"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-30 07:49:14"	""	""	"11487633, 23339110, 24358150, 30410802, 31402629"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA2D20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_20202-OMIM_610478-HP_0000005-GENCC_100004"	"HGNC:20202"	"CACNA2D4"	"MONDO:0012507"	"retinal cone dystrophy 4"	"OMIM:610478"	"Retinal cone dystrophy 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20202"	"CACNA2D4"	"OMIM:610478"	"retinal cone dystrophy 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:50"	""	""	"16877424, 17033974, 25356976, 26560832, 28726569, 28837078, 30902645"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA2D40RetConeDys"	"2023-11-30"
"GENCC_000106-HGNC_1402-OMIM_611876-HP_0000006-GENCC_100004"	"HGNC:1402"	"CACNB2"	"MONDO:0012743"	"Brugada syndrome 4"	"OMIM:611876"	"Brugada syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1402"	"CACNB2"	"OMIM:611876"	"Brugada syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-10 14:23:18"	""	""	"17224476, 19358333, 20817017, 22584458, 22840528, 25637381, 30662450"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNB20Brugada"	"2023-11-30"
"GENCC_000106-HGNC_1404-OMIM_607682-HP_0000006-GENCC_100004"	"HGNC:1404"	"CACNB4"	"MONDO:0011892"	"epilepsy, idiopathic generalized, susceptibility to, 9"	"OMIM:607682"	"{Epilepsy, idiopathic generalized, susceptibility to, 9}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1404"	"CACNB4"	"OMIM:607682"	"{Epilepsy, idiopathic generalized, susceptibility to, 9}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 09:33:33"	""	""	"10328888, 10514818, 10762541, 18755274, 22892567, 24811917, 24875574, 25497044, 27959697, 31056551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNB40EIG"	"2023-11-30"
"GENCC_000106-HGNC_1406-OMIM_614256-HP_0000005-GENCC_100004"	"HGNC:1406"	"CACNG2"	"MONDO:0013657"	"intellectual disability, autosomal dominant 10"	"OMIM:614256"	"?Intellectual developmental disorder, autosomal dominant 10"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1406"	"CACNG2"	"OMIM:614256"	"intellectual disability, autosomal dominant 10"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"16434481, 21376300, 28714951, 32600977"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNG20ID"	"2023-11-30"
"GENCC_000106-HGNC_1424-OMIM_616457-HP_0000007-GENCC_100002"	"HGNC:1424"	"CAD"	"MONDO:0014647"	"developmental and epileptic encephalopathy, 50"	"OMIM:616457"	"Developmental and epileptic encephalopathy 50"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1424"	"CAD"	"OMIM:616457"	"developmental and epileptic encephalopathy, 50"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 13:42:53"	""	""	"25678555, 28007989, 29396846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAD0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_17601-OMIM_619519-HP_0000006-GENCC_100002"	"HGNC:17601"	"CADM3"	"MONDO:0030433"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	"OMIM:619519"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17601"	"CADM3"	"OMIM:619519"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 10:17:23"	""	""	"33889941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CADM30CMT"	"2023-11-30"
"GENCC_000106-HGNC_16709-OMIM_618773-HP_0000005-GENCC_100004"	"HGNC:16709"	"CALCRL"	"MONDO:0032907"	"lymphatic malformation 8"	"OMIM:618773"	"?Lymphatic malformation 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16709"	"CALCRL"	"OMIM:618773"	"?Lymphatic malformation 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-02 12:30:00"	""	""	"30115739"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CALCRL0CALCRLrel"	"2023-11-30"
"GENCC_000106-HGNC_1442-OMIM_614916-HP_0000006-GENCC_100002"	"HGNC:1442"	"CALM1"	"MONDO:0013966"	"catecholaminergic polymorphic ventricular tachycardia 4"	"OMIM:614916"	"Ventricular tachycardia, catecholaminergic polymorphic, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1442"	"CALM1"	"OMIM:614916"	"catecholaminergic polymorphic ventricular tachycardia 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-28 13:25:14"	""	""	"23040497, 23388215, 24025405"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CALM10CPVT"	"2023-11-30"
"GENCC_000106-HGNC_1445-OMIM_616249-HP_0000006-GENCC_100002"	"HGNC:1445"	"CALM2"	"MONDO:0014550"	"long QT syndrome 15"	"OMIM:616249"	"Long QT syndrome 15"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1445"	"CALM2"	"OMIM:616249"	"Long QT syndrome 15"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:09"	""	""	"23388215, 24917665"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CALM20LongQT"	"2023-11-30"
"GENCC_000106-HGNC_13554-OMIM_301015-HP_0000005-GENCC_100004"	"HGNC:13554"	"ATP11C"	"MONDO:0060455"	"X-linked congenital hemolytic anemia"	"OMIM:301015"	"?Hemolytic anemia, congenital, X-linked"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13554"	"ATP11C"	"OMIM:301015"	"?Hemolytic anemia, congenital, X-linked"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:11"	""	""	"24898253, 26944472, 30850395, 31253392, 32641076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP11C0HemolyticAnemia"	"2023-11-30"
"GENCC_000106-HGNC_1460-OMIM_617798-HP_0000006-GENCC_100002"	"HGNC:1460"	"CAMK2A"	"MONDO:0030919"	"intellectual disability, autosomal dominant 53"	"OMIM:617798"	"Intellectual developmental disorder, autosomal dominant 53"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1460"	"CAMK2A"	"OMIM:617798"	"intellectual disability, autosomal dominant 53"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:00"	""	""	"1321493, 1378648, 25143599, 28130356, 29100089, 29560374"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAMK2A0Epi0ID0DD"	"2023-11-30"
"GENCC_000106-HGNC_1460-OMIM_618095-HP_0000007-GENCC_100004"	"HGNC:1460"	"CAMK2A"	"MONDO:0054861"	"intellectual disability, autosomal recessive 63"	"OMIM:618095"	"?Intellectual developmental disorder, autosomal recessive 63"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1460"	"CAMK2A"	"OMIM:618095"	"intellectual disability, autosomal recessive 63"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:10"	""	""	"1321493, 1378648, 25143599, 29784083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAMK2A0Epi0ID0DD02"	"2023-11-30"
"GENCC_000106-HGNC_1461-OMIM_617799-HP_0000006-GENCC_100002"	"HGNC:1461"	"CAMK2B"	"MONDO:0030920"	"intellectual disability, autosomal dominant 54"	"OMIM:617799"	"Intellectual developmental disorder, autosomal dominant 54"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1461"	"CAMK2B"	"OMIM:617799"	"Intellectual developmental disorder, autosomal dominant 54"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 17:54:36"	""	""	"29100089, 29560374"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAMK2B0Epi0ID0DD"	"2023-11-30"
"GENCC_000106-HGNC_25169-OMIM_301018-HP_0000005-GENCC_100004"	"HGNC:25169"	"GPRASP2"	"MONDO:0044702"	"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"	"OMIM:301018"	"?Deafness, X-linked 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25169"	"GPRASP2"	"OMIM:301018"	"?Deafness, X-linked 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:12"	""	""	"28096187"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPRASP20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_18806-OMIM_614756-HP_0000006-GENCC_100002"	"HGNC:18806"	"CAMTA1"	"MONDO:0013886"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"OMIM:614756"	"Cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18806"	"CAMTA1"	"OMIM:614756"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-30 07:52:09"	""	""	"22693284, 24145135, 24738973"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAMTA10SCA"	"2023-11-30"
"GENCC_000106-HGNC_19721-OMIM_251450-HP_0000007-GENCC_100002"	"HGNC:19721"	"CANT1"	"MONDO:0009629"	"Desbuquois dysplasia 1"	"OMIM:251450"	"Desbuquois dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19721"	"CANT1"	"OMIM:251450"	"Desbuquois dysplasia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 14:18:45"	""	""	"121288, 19853239, 21037275, 22539336, 251476, 28742282"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CANT10Desbuquios"	"2023-11-30"
"GENCC_000106-HGNC_20372-OMIM_301021-HP_0001417-GENCC_100002"	"HGNC:20372"	"NDUFB11"	"MONDO:0026721"	"mitochondrial complex 1 deficiency, nuclear type 30"	"OMIM:301021"	"?Mitochondrial complex I deficiency, nuclear type 30"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:20372"	"NDUFB11"	"OMIM:301021"	"?Mitochondrial complex I deficiency, nuclear type 30"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-27 23:50:44"	""	""	"27102574, 27488349"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFB110NDUFB11SidAnem"	"2023-11-30"
"GENCC_000106-HGNC_11585-OMIM_301033-HP_0000005-GENCC_100004"	"HGNC:11585"	"TBL1X"	"MONDO:0026731"	"hypothyroidism, congenital, nongoitrous, 8"	"OMIM:301033"	"Hypothyroidism, congenital, nongoitrous, 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11585"	"TBL1X"	"OMIM:301033"	"Hypothyroidism, congenital, nongoitrous, 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:14"	""	""	"27603907, 30591955, 31504637"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBL1X0TBL1Xrel"	"2023-11-30"
"GENCC_000106-HGNC_1480-OMIM_618129-HP_0000006-GENCC_100002"	"HGNC:1480"	"CAPN3"	"MONDO:0029133"	"muscular dystrophy, limb-girdle, autosomal dominant 4"	"OMIM:618129"	"Muscular dystrophy, limb-girdle, autosomal dominant 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1480"	"CAPN3"	"OMIM:618129"	"muscular dystrophy, limb-girdle, autosomal dominant 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-17 14:01:48"	""	""	"15351423, 18337726, 240268, 27259757, 28881388, 32342993, 9150160"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAPN30LGMD02"	"2023-11-30"
"GENCC_000106-HGNC_1482-OMIM_193235-HP_0000006-GENCC_100002"	"HGNC:1482"	"CAPN5"	"MONDO:0100450"	"CAPN5-related vitreoretinopathy"	"OMIM:193235"	"Vitreoretinopathy, neovascular inflammatory"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1482"	"CAPN5"	"OMIM:193235"	"autosomal dominant neovascular inflammatory vitreoretinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 19:15:08"	""	""	"23055945, 24381307, 25856303, 25994508, 29040051, 29472286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAPN50Vitreoretinop"	"2023-11-30"
"GENCC_000106-HGNC_11111-OMIM_301044-HP_0001417-GENCC_100002"	"HGNC:11111"	"SMC1A"	"MONDO:0026771"	"developmental and epileptic encephalopathy, 85, with or without midline brain defects"	"OMIM:301044"	"Developmental and epileptic encephalopathy 85, with or without midline brain defects"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11111"	"SMC1A"	"OMIM:301044"	"Developmental and epileptic encephalopathy 85, with or without midline brain defects"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 15:19:04"	""	""	"28166369, 31334757"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMC1A0Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_16393-OMIM_616452-HP_0000006-GENCC_100002"	"HGNC:16393"	"CARD11"	"MONDO:0014645"	"BENTA disease"	"OMIM:616452"	"B-cell expansion with NFKB and T-cell anergy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16393"	"CARD11"	"OMIM:616452"	"B-cell expansion with NFKB and T-cell anergy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-29 03:54:05"	""	""	"23129749, 23149938, 25352053, 25930198, 36203613"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARD110BcellExp"	"2023-11-30"
"GENCC_000106-HGNC_16393-OMIM_615206-HP_0000007-GENCC_100002"	"HGNC:16393"	"CARD11"	"MONDO:0014081"	"severe combined immunodeficiency due to CARD11 deficiency"	"OMIM:615206"	"Immunodeficiency 11A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16393"	"CARD11"	"OMIM:615206"	"Immunodeficiency 11A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-03 08:41:09"	""	""	"12818158, 23374270, 23561803, 26289640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARD110CID"	"2023-11-30"
"GENCC_000106-HGNC_16393-OMIM_617638-HP_0000006-GENCC_100002"	"HGNC:16393"	"CARD11"	"MONDO:0054697"	"immunodeficiency 11b with atopic dermatitis"	"OMIM:617638"	"Immunodeficiency 11B with atopic dermatitis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16393"	"CARD11"	"OMIM:617638"	"immunodeficiency 11b with atopic dermatitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 14:22:34"	""	""	"28628108, 28826773, 30170123, 33202260"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARD110IMD11BwithAD"	"2023-11-30"
"GENCC_000106-HGNC_16446-OMIM_173200-HP_0000006-GENCC_100002"	"HGNC:16446"	"CARD14"	"MONDO:0008251"	"familial pityriasis rubra pilaris"	"OMIM:173200"	"Pityriasis rubra pilaris"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16446"	"CARD14"	"OMIM:173200"	"familial pityriasis rubra pilaris"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-24 05:32:37"	""	""	"30386326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARD140PityRubraPilar"	"2023-11-30"
"GENCC_000106-HGNC_16446-OMIM_602723-HP_0000006-GENCC_100002"	"HGNC:16446"	"CARD14"	"MONDO:0011269"	"psoriasis 2"	"OMIM:602723"	"Psoriasis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16446"	"CARD14"	"OMIM:602723"	"psoriasis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 09:30:00"	""	""	"22521418"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARD140Psoriasis"	"2023-11-30"
"GENCC_000106-HGNC_15631-OMIM_301051-HP_0000005-GENCC_100004"	"HGNC:15631"	"TLR7"	"MONDO:0026767"	"immunodeficiency 74, COVID-19-related, X-linked"	"OMIM:301051"	"Immunodeficiency 74, COVID19-related, X-linked"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15631"	"TLR7"	"OMIM:301051"	"Immunodeficiency 74, COVID19-related, X-linked"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-14 13:40:06"	""	""	"32706371"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TLR70Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_16391-OMIM_212050-HP_0000007-GENCC_100002"	"HGNC:16391"	"CARD9"	"MONDO:0008905"	"predisposition to invasive fungal disease due to CARD9 deficiency"	"OMIM:212050"	"Immunodeficiency 103, susceptibility to fungal infection"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16391"	"CARD9"	"OMIM:212050"	"predisposition to invasive fungal disease due to CARD9 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 20:43:39"	""	""	"19864672, 24131138, 24231284, 25702837"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARD9def"	"2023-11-30"
"GENCC_000106-HGNC_25695-OMIM_616672-HP_0000007-GENCC_100002"	"HGNC:25695"	"CARS2"	"MONDO:0014728"	"combined oxidative phosphorylation defect type 27"	"OMIM:616672"	"Combined oxidative phosphorylation deficiency 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25695"	"CARS2"	"OMIM:616672"	"combined oxidative phosphorylation defect type 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"25361775, 25363768, 25787132, 30139652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARS20OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_1497-OMIM_300422-HP_0001417-GENCC_100002"	"HGNC:1497"	"CASK"	"MONDO:0010318"	"FG syndrome 4"	"OMIM:300422"	"FG syndrome 4"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1497"	"CASK"	"OMIM:300422"	"FG syndrome 4"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 09:30:58"	""	""	"19377476, 20029458"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASK0ID"	"2023-11-30"
"GENCC_000106-HGNC_1497-OMIM_300749-HP_0001417-GENCC_100002"	"HGNC:1497"	"CASK"	"MONDO:0010417"	"syndromic X-linked intellectual disability Najm type"	"OMIM:300749"	"Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1497"	"CASK"	"OMIM:300749"	"syndromic X-linked intellectual disability Najm type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 21:11:05"	""	""	"17287346, 19165920, 21735175, 21954287"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASK0IDandMicro"	"2023-11-30"
"GENCC_000106-HGNC_1500-OMIM_603909-HP_0000005-GENCC_100004"	"HGNC:1500"	"CASP10"	"MONDO:0011383"	"autoimmune lymphoproliferative syndrome type 2A"	"OMIM:603909"	"Autoimmune lymphoproliferative syndrome, type II"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1500"	"CASP10"	"OMIM:603909"	"autoimmune lymphoproliferative syndrome type 2A"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-21 06:42:30"	""	""	"10412980, 16446975, 21382177, 27872624, 28750028, 31249631, 31309545, 33225392, 34329798"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASP100AutoLymphSyn"	"2023-11-30"
"GENCC_000106-HGNC_1509-OMIM_607271-HP_0000007-GENCC_100002"	"HGNC:1509"	"CASP8"	"MONDO:0011804"	"autoimmune lymphoproliferative syndrome type 2B"	"OMIM:607271"	"?Caspase 8 lymphadenopathy syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1509"	"CASP8"	"OMIM:607271"	"autoimmune lymphoproliferative syndrome type 2B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"121294, 12353035, 16157684, 25814141, 9729047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASP80CASP8def"	"2023-11-30"
"GENCC_000106-HGNC_1512-OMIM_616231-HP_0000006-GENCC_100002"	"HGNC:1512"	"CASQ1"	"MONDO:0014546"	"myopathy due to calsequestrin and SERCA1 protein overload"	"OMIM:616231"	"Myopathy, vacuolar, with CASQ1 aggregates"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1512"	"CASQ1"	"OMIM:616231"	"Myopathy, vacuolar, with CASQ1 aggregates"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-19 22:32:17"	""	""	"19237502, 25116801, 26136523, 26416891, 28895244, 29039140, 30258016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASQ10Myopathy02"	"2023-11-30"
"GENCC_000106-HGNC_1513-OMIM_611938-HP_0000007-GENCC_100002"	"HGNC:1513"	"CASQ2"	"MONDO:0012762"	"catecholaminergic polymorphic ventricular tachycardia 2"	"OMIM:611938"	"Ventricular tachycardia, catecholaminergic polymorphic, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1513"	"CASQ2"	"OMIM:611938"	"catecholaminergic polymorphic ventricular tachycardia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 14:31:33"	""	""	"12386154, 21787999, 27157848"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASQ20CPVT"	"2023-11-30"
"GENCC_000106-HGNC_1514-OMIM_612899-HP_0000006-GENCC_100004"	"HGNC:1514"	"CASR"	"MONDO:0013032"	"epilepsy, idiopathic generalized, susceptibility to, 8"	"OMIM:612899"	"{?Epilepsy idiopathic generalized, susceptibility to, 8}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1514"	"CASR"	"OMIM:612899"	"{?Epilepsy idiopathic generalized, susceptibility to, 8}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 12:35:11"	""	""	"18756473, 20798521"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASR0EIG"	"2023-11-30"
"GENCC_000106-HGNC_1514-OMIM_145980-HP_0000006-GENCC_100002"	"HGNC:1514"	"CASR"	"MONDO:0007791"	"familial hypocalciuric hypercalcemia 1"	"OMIM:145980"	"Hypocalciuric hypercalcemia, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1514"	"CASR"	"OMIM:145980"	"familial hypocalciuric hypercalcemia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 13:05:08"	""	""	"21986511, 22422767, 30449544, 31189130, 31336912, 8675635"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASR0HCC"	"2023-11-30"
"GENCC_000106-HGNC_1514-OMIM_239200-HP_0000006-GENCC_100002"	"HGNC:1514"	"CASR"	"MONDO:0009397"	"neonatal severe primary hyperparathyroidism"	"OMIM:239200"	"Hyperparathyroidism, neonatal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1514"	"CASR"	"OMIM:239200"	"Hyperparathyroidism, neonatal"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-21 19:46:48"	""	""	"11807402, 14985373, 21521328, 22989537, 27913609, 30536424, 31189130, 31336912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASR0HPT"	"2023-11-30"
"GENCC_000106-HGNC_1514-OMIM_601198-HP_0000006-GENCC_100002"	"HGNC:1514"	"CASR"	"MONDO:0011013"	"autosomal dominant hypocalcemia 1"	"OMIM:601198"	"Hypocalcemia, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1514"	"CASR"	"OMIM:601198"	"Hypocalcemia, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-02 14:01:08"	""	""	"11889203, 12050233, 12241879, 16128246, 17048213, 18328986, 25932037, 27803672, 29743878, 31189130, 31336912, 8813042"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASR0Hypocalcemia"	"2023-11-30"
"GENCC_000106-HGNC_1514-OMIM_239200-HP_0000007-GENCC_100002"	"HGNC:1514"	"CASR"	"MONDO:0009397"	"neonatal severe primary hyperparathyroidism"	"OMIM:239200"	"Hyperparathyroidism, neonatal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1514"	"CASR"	"OMIM:239200"	"Hyperparathyroidism, neonatal"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-21 19:46:48"	""	""	"22422767, 7054696, 9253359"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CASR0NSHPT"	"2023-11-30"
"GENCC_000106-HGNC_1515-OMIM_616295-HP_0000007-GENCC_100002"	"HGNC:1515"	"CAST"	"MONDO:0014574"	"peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	"OMIM:616295"	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1515"	"CAST"	"OMIM:616295"	"peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 23:36:06"	""	""	"25683118, 28851602"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAST0PeelingS04"	"2023-11-30"
"GENCC_000106-HGNC_2041-OMIM_301060-HP_0000005-GENCC_100004"	"HGNC:2041"	"CLDN2"	"MONDO:0025356"	"azoospermia, obstructive, with nephrolithiasis"	"OMIM:301060"	"?Azoospermia, obstructive, with nephrolithiasis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2041"	"CLDN2"	"OMIM:301060"	"?Azoospermia, obstructive, with nephrolithiasis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:13"	""	""	"31320686, 32149733"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLDN20CLDN2rel"	"2023-11-30"
"GENCC_000106-HGNC_1527-OMIM_606721-HP_0000006-GENCC_100002"	"HGNC:1527"	"CAV1"	"MONDO:0011714"	"partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome"	"OMIM:606721"	"Lipodystrophy, familial partial, type 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1527"	"CAV1"	"OMIM:606721"	"Lipodystrophy, familial partial, type 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"18237401, 25356970, 25898808, 27717241"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAV10Lipodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_1527-OMIM_615343-HP_0000006-GENCC_100002"	"HGNC:1527"	"CAV1"	"MONDO:0014135"	"pulmonary hypertension, primary, 3"	"OMIM:615343"	"Pulmonary hypertension, primary, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1527"	"CAV1"	"OMIM:615343"	"pulmonary hypertension, primary, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-31 09:52:25"	""	""	"18211975, 18237401, 22474227"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAV10PulmHypertens"	"2023-11-30"
"GENCC_000106-HGNC_1529-OMIM_611818-HP_0000006-GENCC_100004"	"HGNC:1529"	"CAV3"	"MONDO:0012736"	"long QT syndrome 9"	"OMIM:611818"	"Long QT syndrome 9"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1529"	"CAV3"	"OMIM:611818"	"long QT syndrome 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-04 12:01:56"	""	""	"17060380, 19862833, 23631430, 23640888, 24917393, 26132555, 28648120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAV30LongQT"	"2023-11-30"
"GENCC_000106-HGNC_1539-OMIM_601626-HP_0000005-GENCC_100004"	"HGNC:1539"	"CBFB"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1539"	"CBFB"	"OMIM:601626"	"acute myeloid leukemia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-11-16 08:26:06"	""	""	"12434152, 15566413, 17022082"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CBFB0CBFBrel"	"2023-11-30"
"GENCC_000106-HGNC_11752-OMIM_301066-HP_0001417-GENCC_100002"	"HGNC:11752"	"TFE3"	"MONDO:0859080"	"intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies"	"OMIM:301066"	"Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11752"	"TFE3"	"OMIM:301066"	"Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 13:01:11"	""	""	"30595499, 31833172, 32409512"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFE30TFE3rel"	"2023-11-30"
"GENCC_000106-HGNC_1541-OMIM_607785-HP_0000006-GENCC_100002"	"HGNC:1541"	"CBL"	"MONDO:0011908"	"juvenile myelomonocytic leukemia"	"OMIM:607785"	"Leukemia, juvenile myelomonocytic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1541"	"CBL"	"OMIM:607785"	"juvenile myelomonocytic leukemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 07:10:30"	""	""	"20694012, 23823657"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CBL0JMML"	"2023-11-30"
"GENCC_000106-HGNC_1541-OMIM_613563-HP_0000006-GENCC_100002"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"OMIM:613563"	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1541"	"CBL"	"OMIM:613563"	"CBL-related disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 11:58:33"	""	""	"25952305, 34026204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CBL0Noonan"	"2023-11-30"
"GENCC_000106-HGNC_1542-OMIM_620430-HP_0000007-GENCC_100002"	"HGNC:1542"	"CBLB"	"MONDO:0957388"	"autoimmune disease, multisystem, infantile-onset, 3"	"OMIM:620430"	"Autoimmune disease, multisystem, infantile-onset, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1542"	"CBLB"	"OMIM:620430"	"Autoimmune disease, multisystem, infantile-onset, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 18:22:26"	""	""	"17938199, 27276677, 36006710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CBLB0Autoimmune"	"2023-11-30"
"GENCC_000106-HGNC_29253-OMIM_619845-HP_0000007-GENCC_100002"	"HGNC:29253"	"CC2D2A"	"MONDO:0030797"	"retinitis pigmentosa 93"	"OMIM:619845"	"Retinitis pigmentosa 93"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29253"	"CC2D2A"	"OMIM:619845"	"Retinitis pigmentosa 93"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 13:18:32"	""	""	"15563877, 15580021, 26092869, 30267408"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CC2D2A0ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_29253-OMIM_612285-HP_0000007-GENCC_100002"	"HGNC:29253"	"CC2D2A"	"MONDO:0012849"	"Joubert syndrome 9"	"OMIM:612285"	"Joubert syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29253"	"CC2D2A"	"OMIM:612285"	"Joubert syndrome 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-02 02:02:43"	""	""	"15538697, 18950740, 19777577"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CC2D2A0Joubert"	"2023-11-30"
"GENCC_000106-HGNC_11957-OMIM_301068-HP_0001417-GENCC_100002"	"HGNC:11957"	"MED12"	"MONDO:0012997"	"cholestasis-pigmentary retinopathy-cleft palate syndrome"	"OMIM:301068"	"Hardikar syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11957"	"MED12"	"OMIM:301068"	"Hardikar syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-20 14:24:26"	""	""	"33244166"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED120Hardikar"	"2023-11-30"
"GENCC_000106-HGNC_26185-OMIM_619795-HP_0000005-GENCC_100004"	"HGNC:26185"	"CCDC134"	"MONDO:0030714"	"osteogenesis imperfecta, IIA 22"	"OMIM:619795"	"Osteogenesis imperfecta, type XXII"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26185"	"CCDC134"	"OMIM:619795"	"osteogenesis imperfecta, IIA 22"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 12:40:30"	""	""	"32181939, 34204301"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC1340CCDC134rel"	"2023-11-30"
"GENCC_000106-HGNC_28303-OMIM_616037-HP_0000007-GENCC_100002"	"HGNC:28303"	"ODAD3"	"MONDO:0014465"	"primary ciliary dyskinesia 30"	"OMIM:616037"	"Ciliary dyskinesia, primary, 30"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28303"	"ODAD3"	"OMIM:616037"	"primary ciliary dyskinesia 30"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-11 11:56:57"	""	""	"25192045, 30504913"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC1510PCD"	"2023-11-30"
"GENCC_000106-HGNC_28033-OMIM_616816-HP_0000007-GENCC_100004"	"HGNC:28033"	"CCDC174"	"MONDO:0014784"	"severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"	"OMIM:616816"	"Hypotonia, infantile, with psychomotor retardation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28033"	"CCDC174"	"OMIM:616816"	"severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"26358778"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC1740Hypotoni02"	"2023-11-30"
"GENCC_000106-HGNC_3319-OMIM_301074-HP_0001417-GENCC_100002"	"HGNC:3319"	"ELF4"	"MONDO:0024770"	"autoinflammatory syndrome, familial, X-linked, Behcet-like 2"	"OMIM:301074"	"Autoinflammatory syndrome, familial, X-linked, Behcet-like 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3319"	"ELF4"	"OMIM:301074"	"Autoinflammatory syndrome, familial, X-linked, Behcet-like 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-12 16:51:14"	""	""	"34326534, 36477361"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELF40DEX"	"2023-11-30"
"GENCC_000106-HGNC_11122-OMIM_301075-HP_0001417-GENCC_100002"	"HGNC:11122"	"SMPX"	"MONDO:0024771"	"myopathy, distal, 7, adult-onset, X-linked"	"OMIM:301075"	"Myopathy, distal, 7, adult-onset, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11122"	"SMPX"	"OMIM:301075"	"Myopathy, distal, 7, adult-onset, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-14 12:00:24"	""	""	"33974137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMPX0DistalMyop"	"2023-11-30"
"GENCC_000106-HGNC_18111-OMIM_607453-HP_0000005-GENCC_100004"	"HGNC:18111"	"CCDC50"	"MONDO:0011832"	"autosomal dominant nonsyndromic hearing loss 44"	"OMIM:607453"	"?Deafness, autosomal dominant 44"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18111"	"CCDC50"	"OMIM:607453"	"autosomal dominant nonsyndromic hearing loss 44"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-06 12:54:43"	""	""	"17503326, 24875298, 27068579, 27911912, 33229591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC500Deafness"	"2023-11-30"
"GENCC_000106-HGNC_19967-OMIM_616053-HP_0000006-GENCC_100004"	"HGNC:19967"	"CCDC88C"	"MONDO:0014475"	"spinocerebellar ataxia type 40"	"OMIM:616053"	"?Spinocerebellar ataxia 40"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19967"	"CCDC88C"	"OMIM:616053"	"spinocerebellar ataxia type 40"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-02-16 19:41:36"	""	""	"25062847, 30398676, 34284285, 34436841"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC88C0SCAR"	"2023-11-30"
"GENCC_000106-HGNC_1596-OMIM_618147-HP_0000005-GENCC_100004"	"HGNC:1596"	"CCNK"	"MONDO:0029143"	"intellectual developmental disorder with hypertelorism and distinctive facies"	"OMIM:618147"	"?Intellectual developmental disorder with hypertelorism and distinctive facies"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1596"	"CCNK"	"OMIM:618147"	"intellectual developmental disorder with hypertelorism and distinctive facies"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-11-20 14:29:36"	""	""	"30122539, 31981491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCNK0ID"	"2023-11-30"
"GENCC_000106-HGNC_28434-OMIM_300707-HP_0001417-GENCC_100002"	"HGNC:28434"	"CCNQ"	"MONDO:0010408"	"syndactyly-telecanthus-anogenital and renal malformations syndrome"	"OMIM:300707"	"STAR syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:28434"	"CCNQ"	"OMIM:300707"	"syndactyly-telecanthus-anogenital and renal malformations syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-28 10:20:28"	""	""	"18297069, 20848651, 24218572, 28225384, 282330, 282384, 282794, 28322501"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCNQ0STAR"	"2023-11-30"
"GENCC_000106-HGNC_1618-OMIM_256840-HP_0000005-GENCC_100004"	"HGNC:1618"	"CCT5"	"MONDO:0009748"	"hereditary sensory and autonomic neuropathy with spastic paraplegia"	"OMIM:256840"	"?Neuropathy, hereditary sensory, with spastic paraplegia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1618"	"CCT5"	"OMIM:256840"	"hereditary sensory and autonomic neuropathy with spastic paraplegia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:53"	""	""	"16399879, 25124038, 27884173"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCT50SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_1630-OMIM_609057-HP_0000005-GENCC_100004"	"HGNC:1630"	"CD151"	"MONDO:0012190"	"epidermolysis bullosa simplex 7, with nephropathy and deafness"	"OMIM:609057"	"Epidermolysis bullosa simplex 7, with nephropathy and deafness"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1630"	"CD151"	"OMIM:609057"	"nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-12-20 10:29:48"	""	""	"15265795, 29138120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD1510Nephropa"	"2023-11-30"
"GENCC_000106-HGNC_1632-OMIM_616969-HP_0000005-GENCC_100004"	"HGNC:1632"	"CD164"	"MONDO:0014854"	"autosomal dominant nonsyndromic hearing loss 66"	"OMIM:616969"	"?Deafness, autosomal dominant 66"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1632"	"CD164"	"OMIM:616969"	"autosomal dominant nonsyndromic hearing loss 66"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-20 19:55:58"	""	""	"26197441"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD1640Deafness"	"2023-11-30"
"GENCC_000106-HGNC_16692-OMIM_613646-HP_0000005-GENCC_100004"	"HGNC:16692"	"CD320"	"MONDO:0013341"	"methylmalonic acidemia due to transcobalamin receptor defect"	"OMIM:613646"	"Methylmalonic aciduria, transient, due to transcobalamin receptor defect"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16692"	"CD320"	"OMIM:613646"	"methylmalonic acidemia due to transcobalamin receptor defect"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"20524213, 22819238, 2343097, 23430977, 28545069, 30041674"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD3200MMATCR"	"2023-11-30"
"GENCC_000106-HGNC_4327-OMIM_301076-HP_0001417-GENCC_100002"	"HGNC:4327"	"GLRA2"	"MONDO:0024772"	"intellectual developmental disorder, X-linked, syndromic, Pilorge type"	"OMIM:301076"	"Intellectual developmental disorder, X-linked syndromic, Pilorge type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4327"	"GLRA2"	"OMIM:301076"	"Intellectual developmental disorder, X-linked syndromic, Pilorge type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-21 10:40:36"	""	""	"26370147, 28588452, 30374290, 31220273, 35294868"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLRA20PylorgeID"	"2023-11-30"
"GENCC_000106-HGNC_11919-OMIM_606843-HP_0000007-GENCC_100002"	"HGNC:11919"	"CD40"	"MONDO:0011735"	"hyper-IgM syndrome type 3"	"OMIM:606843"	"Immunodeficiency with hyper-IgM, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11919"	"CD40"	"OMIM:606843"	"hyper-IgM syndrome type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-02 15:03:03"	""	""	"11675497, 12584544, 17502893, 20702779, 22342113, 22443339, 24122029, 25511220"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD400HyperIgM"	"2023-11-30"
"GENCC_000106-HGNC_6953-OMIM_612922-HP_0000006-GENCC_100002"	"HGNC:6953"	"CD46"	"MONDO:0013040"	"atypical hemolytic-uremic syndrome with MCP/CD46 anomaly"	"OMIM:612922"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6953"	"CD46"	"OMIM:612922"	"atypical hemolytic-uremic syndrome with MCP/CD46 anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 16:16:05"	""	""	"14566051, 14615110, 16621965, 23307876, 23431077, 23780777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD460CD46rel"	"2023-11-30"
"GENCC_000106-HGNC_6953-OMIM_612922-HP_0000007-GENCC_100002"	"HGNC:6953"	"CD46"	"MONDO:0013040"	"atypical hemolytic-uremic syndrome with MCP/CD46 anomaly"	"OMIM:612922"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 2}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6953"	"CD46"	"OMIM:612922"	"atypical hemolytic-uremic syndrome with MCP/CD46 anomaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 16:16:05"	""	""	"14566051, 16621965, 26307634, 31945341, 35987516"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD460HemolyticUremic"	"2023-11-30"
"GENCC_000106-HGNC_15632-OMIM_301078-HP_0000005-GENCC_100004"	"HGNC:15632"	"TLR8"	"MONDO:0024777"	"immunodeficiency 98 with autoinflammation, X-linked"	"OMIM:301078"	"Immunodeficiency 98 with autoinflammation, X-linked"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15632"	"TLR8"	"OMIM:301078"	"Immunodeficiency 98 with autoinflammation, X-linke"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-11 13:15:35"	""	""	"33512449"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TLR80TLR8rel"	"2023-11-30"
"GENCC_000106-HGNC_16892-OMIM_211750-HP_0000005-GENCC_100004"	"HGNC:16892"	"CD96"	"MONDO:0008893"	"C syndrome"	"OMIM:211750"	"C syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16892"	"CD96"	"OMIM:211750"	"C syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:22"	""	""	"17847009, 27257017"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD960CSyndrom"	"2023-11-30"
"GENCC_000106-HGNC_1723-OMIM_620276-HP_0000007-GENCC_100002"	"HGNC:1723"	"CDC20"	"MONDO:0859521"	"oocyte maturation defect 14"	"OMIM:620276"	"Oocyte/zygote/embryo maturation arrest 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1723"	"CDC20"	"OMIM:620276"	"Oocyte/zygote/embryo maturation arrest 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-18 15:14:25"	""	""	"20941357, 32666501, 33898437"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC200FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_17350-OMIM_619302-HP_0000005-GENCC_100004"	"HGNC:17350"	"CDC40"	"MONDO:0030259"	"pontocerebellar hypoplasia, type 15"	"OMIM:619302"	"?Pontocerebellar hypoplasia, type 15"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17350"	"CDC40"	"OMIM:619302"	"?Pontocerebellar hypoplasia, type 15"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-03 18:14:35"	""	""	"33220177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC400CDC40rel"	"2023-11-30"
"GENCC_000106-HGNC_15975-OMIM_301082-HP_0001417-GENCC_100002"	"HGNC:15975"	"SASH3"	"MONDO:0024781"	"immunodeficiency 102"	"OMIM:301082"	"Immunodeficiency 102"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:15975"	"SASH3"	"OMIM:301082"	"Immunodeficiency 102"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:33:38"	""	""	"19604361, 33876203"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SASH30CID"	"2023-11-30"
"GENCC_000106-HGNC_1744-OMIM_613805-HP_0000005-GENCC_100004"	"HGNC:1744"	"CDC6"	"MONDO:0013432"	"Meier-Gorlin syndrome 5"	"OMIM:613805"	"Meier-Gorlin syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1744"	"CDC6"	"OMIM:613805"	"Meier-Gorlin syndrome 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"10436018, 11477602, 21358632, 22333897, 22333987, 23516378, 28985365"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC60MeierGorlin"	"2023-11-30"
"GENCC_000106-HGNC_16783-OMIM_608266-HP_0000006-GENCC_100002"	"HGNC:16783"	"CDC73"	"MONDO:0012004"	"parathyroid gland carcinoma"	"OMIM:608266"	"Parathyroid carcinoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16783"	"CDC73"	"OMIM:608266"	"parathyroid gland carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-03 11:23:25"	""	""	"10770180, 15579037, 15606373, 16720667, 19529956, 20301744, 23029104, 23293331, 26450137, 28674121, 29040582, 31929790, 7717405, 7912571"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC730CDC73relCanc"	"2023-11-30"
"GENCC_000106-HGNC_16783-OMIM_145000-HP_0000006-GENCC_100002"	"HGNC:16783"	"CDC73"	"MONDO:0007767"	"hyperparathyroidism 1"	"OMIM:145000"	"Hyperparathyroidism, familial primary"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16783"	"CDC73"	"OMIM:145000"	"Hyperparathyroidism, familial primary"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-17 21:50:04"	""	""	"12434154, 15531515, 16720667, 29040582"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC730HPT"	"2023-11-30"
"GENCC_000106-HGNC_16783-OMIM_145001-HP_0000006-GENCC_100002"	"HGNC:16783"	"CDC73"	"MONDO:0007768"	"hyperparathyroidism 2 with jaw tumors"	"OMIM:145001"	"Hyperparathyroidism-jaw tumor syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16783"	"CDC73"	"OMIM:145001"	"hyperparathyroidism 2 with jaw tumors"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-13 00:14:10"	""	""	"12434154"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC730HPT0JT"	"2023-11-30"
"GENCC_000106-HGNC_1748-OMIM_119580-HP_0000006-GENCC_100002"	"HGNC:1748"	"CDH1"	"MONDO:0054740"	"blepharocheilodontic syndrome 1"	"OMIM:119580"	"Blepharocheilodontic syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1748"	"CDH1"	"OMIM:119580"	"blepharocheilodontic syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-29 06:27:35"	""	""	"28301459, 29348693, 31638429, 32260281, 32302040, 34592648"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH10BCDS"	"2023-11-30"
"GENCC_000106-HGNC_4077-OMIM_301091-HP_0001417-GENCC_100002"	"HGNC:4077"	"GABRA3"	"MONDO:0859564"	"epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"	"OMIM:301091"	"Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4077"	"GABRA3"	"OMIM:301091"	"Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 14:45:47"	""	""	"27572814, 28135719, 29053855"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRA30GABRA3rel"	"2023-11-30"
"GENCC_000106-HGNC_1759-OMIM_618929-HP_0000006-GENCC_100002"	"HGNC:1759"	"CDH2"	"MONDO:0030065"	"agenesis of corpus callosum, cardiac, ocular, and genital syndrome"	"OMIM:618929"	"Agenesis of corpus callosum, cardiac, ocular, and genital syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1759"	"CDH2"	"OMIM:618929"	"agenesis of corpus callosum, cardiac, ocular, and genital syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 07:03:08"	""	""	"31585109"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH20ACOGsynd"	"2023-11-30"
"GENCC_000106-HGNC_1759-OMIM_618920-HP_0000006-GENCC_100002"	"HGNC:1759"	"CDH2"	"MONDO:0030062"	"arrhythmogenic right ventricular dysplasia, familial, 14"	"OMIM:618920"	"Arrhythmogenic right ventricular dysplasia 14"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1759"	"CDH2"	"OMIM:618920"	"arrhythmogenic right ventricular dysplasia, familial, 14"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-25 11:49:23"	""	""	"28280076, 28326674, 30453078"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH20ArrhythCardiomy"	"2023-11-30"
"GENCC_000106-HGNC_13733-OMIM_601386-HP_0000007-GENCC_100002"	"HGNC:13733"	"CDH23"	"MONDO:0011067"	"autosomal recessive nonsyndromic hearing loss 12"	"OMIM:601386"	"Deafness, autosomal recessive 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13733"	"CDH23"	"OMIM:601386"	"autosomal recessive nonsyndromic hearing loss 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:48:26"	""	""	"12075507, 12522556, 19270079, 20644563, 21940737, 26226137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH230Deafness"	"2023-11-30"
"GENCC_000106-HGNC_13733-OMIM_601067-HP_0000007-GENCC_100002"	"HGNC:13733"	"CDH23"	"MONDO:0010984"	"Usher syndrome type 1D"	"OMIM:601067"	"Usher syndrome, type 1D/F digenic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13733"	"CDH23"	"OMIM:601067"	"Usher syndrome type 1D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-07 01:44:36"	""	""	"11138008, 11138009, 12075507, 15537665, 20301442, 21940737"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH230Usher"	"2023-11-30"
"GENCC_000106-HGNC_1762-OMIM_225280-HP_0000007-GENCC_100002"	"HGNC:1762"	"CDH3"	"MONDO:0009155"	"EEM syndrome"	"OMIM:225280"	"Ectodermal dysplasia, ectrodactyly, and macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1762"	"CDH3"	"OMIM:225280"	"EEM syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-25 13:01:20"	""	""	"15805154, 18199584, 22140374, 29620724"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH30EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_11616-OMIM_301094-HP_0001417-GENCC_100002"	"HGNC:11616"	"TCEAL1"	"MONDO:0859085"	"neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked"	"OMIM:301094"	"Hijazi-Reis syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11616"	"TCEAL1"	"OMIM:301094"	"Hijazi-Reis syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 22:10:07"	""	""	"27506666, 36368327"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCEAL10TCEAL1rel"	"2023-11-30"
"GENCC_000106-HGNC_11335-OMIM_301099-HP_0001417-GENCC_100002"	"HGNC:11335"	"SSX1"	"MONDO:0859477"	"spermatogenic failure, X-linked, 5"	"OMIM:301099"	"Spermatogenic failure, X-linked, 5"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11335"	"SSX1"	"OMIM:301099"	"Spermatogenic failure, X-linked, 5"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-12 15:19:24"	""	""	"36796361"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SSX10MMAF"	"2023-11-30"
"GENCC_000106-HGNC_1777-OMIM_616080-HP_0000005-GENCC_100004"	"HGNC:1777"	"CDK6"	"MONDO:0014484"	"microcephaly 12, primary, autosomal recessive"	"OMIM:616080"	"?Microcephaly 12, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1777"	"CDK6"	"OMIM:616080"	"?Microcephaly 12, primary, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"23918663"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDK60Seckel"	"2023-11-30"
"GENCC_000106-HGNC_1786-OMIM_614732-HP_0000006-GENCC_100002"	"HGNC:1786"	"CDKN1C"	"MONDO:0013873"	"IMAGe syndrome"	"OMIM:614732"	"IMAGE syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1786"	"CDKN1C"	"OMIM:614732"	"IMAGe syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22634751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDKN1C0IMAGE"	"2023-11-30"
"GENCC_000106-HGNC_1802-OMIM_270300-HP_0000007-GENCC_100002"	"HGNC:1802"	"CDSN"	"MONDO:0024548"	"peeling skin syndrome 1"	"OMIM:270300"	"Peeling skin syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1802"	"CDSN"	"OMIM:270300"	"peeling skin syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"18436651, 20691404, 21191406, 22146835, 23957618, 24116970, 24372652, 24794518, 26014679"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDSN0PeelingS02"	"2023-11-30"
"GENCC_000106-HGNC_1833-OMIM_601626-HP_0000006-GENCC_100002"	"HGNC:1833"	"CEBPA"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1833"	"CEBPA"	"OMIM:601626"	"acute myeloid leukemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-16 08:26:06"	""	""	"11242107, 1391942, 15575056, 18946494, 19953636, 22066712, 23560626, 7565736, 8585944, 8695841, 9012825"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEBPA0AML0Familial"	"2023-11-30"
"GENCC_000106-HGNC_1848-OMIM_609812-HP_0000005-GENCC_100004"	"HGNC:1848"	"CEL"	"MONDO:0012348"	"maturity-onset diabetes of the young type 8"	"OMIM:609812"	"Maturity-onset diabetes of the young, type VIII"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1848"	"CEL"	"OMIM:609812"	"maturity-onset diabetes of the young type 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-13 15:57:34"	""	""	"16369531, 23565203, 23771172, 24503134, 27650499, 30191644, 31264968"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEL0MODY"	"2023-11-30"
"GENCC_000106-HGNC_24609-OMIM_618620-HP_0000005-GENCC_100004"	"HGNC:24609"	"CELA2A"	"MONDO:0032837"	"abdominal obesity-metabolic syndrome 4"	"OMIM:618620"	"Abdominal obesity-metabolic syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24609"	"CELA2A"	"OMIM:618620"	"abdominal obesity-metabolic syndrome 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-10-15 07:38:58"	""	""	"31358993"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CELA2A0CAD"	"2023-11-30"
"GENCC_000106-HGNC_26047-OMIM_301106-HP_0000005-GENCC_100004"	"HGNC:26047"	"CT55"	"MONDO:0957202"	"spermatogenic failure, X-linked, 7"	"OMIM:301106"	"?Spermatogenic failure, X-linked, 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26047"	"CT55"	"OMIM:301106"	"?Spermatogenic failure, X-linked, 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-12 18:45:16"	""	""	"36481789"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CT550CT55rel"	"2023-11-30"
"GENCC_000106-HGNC_1850-OMIM_182940-HP_0000006-GENCC_100004"	"HGNC:1850"	"CELSR1"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"{Neural tube defects, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1850"	"CELSR1"	"OMIM:182940"	"neural tube defects, susceptibility to"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-02 11:59:18"	""	""	"12842012, 22095531, 22371354, 24632739, 27756857, 29573971"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CELSR10NeuralTube"	"2023-11-30"
"GENCC_000106-HGNC_1856-OMIM_616051-HP_0000005-GENCC_100004"	"HGNC:1856"	"CENPE"	"MONDO:0014473"	"microcephaly 13, primary, autosomal recessive"	"OMIM:616051"	"?Microcephaly 13, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1856"	"CENPE"	"OMIM:616051"	"microcephaly 13, primary, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"12361599, 12925705, 24748105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CENPE0PrimDwarfism"	"2023-11-30"
"GENCC_000106-HGNC_4206-OMIM_303800-HP_0001417-GENCC_100002"	"HGNC:4206"	"OPN1MW"	"MONDO:0010564"	"red-green color blindness"	"OMIM:303800"	"Colorblindness, deutan"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4206"	"OPN1MW"	"OMIM:303800"	"Colorblindness, deutan"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:05"	""	""	"15208011, 20854834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPN1MW0Colorblind"	"2023-11-30"
"GENCC_000106-HGNC_26690-OMIM_617761-HP_0000007-GENCC_100002"	"HGNC:26690"	"CEP120"	"MONDO:0033310"	"Joubert syndrome 31"	"OMIM:617761"	"Joubert syndrome 31"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26690"	"CEP120"	"OMIM:617761"	"Joubert syndrome 31"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"25251415, 27208211, 476410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP1200Joubert"	"2023-11-30"
"GENCC_000106-HGNC_26690-OMIM_616300-HP_0000007-GENCC_100002"	"HGNC:26690"	"CEP120"	"MONDO:0014577"	"short-rib thoracic dysplasia 13 with or without polydactyly"	"OMIM:616300"	"Short-rib thoracic dysplasia 13 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26690"	"CEP120"	"OMIM:616300"	"Short-rib thoracic dysplasia 13 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"25251415, 25361962, 27208211, 476410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP1200ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_9936-OMIM_303900-HP_0001417-GENCC_100002"	"HGNC:9936"	"OPN1LW"	"MONDO:0010565"	"red color blindness"	"OMIM:303900"	"Colorblindness, protan"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9936"	"OPN1LW"	"OMIM:303900"	"Colorblindness, protan"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:08"	""	""	"10982039, 22732407, 25168334, 25412400, 26967834, 8213841"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPN1LW0Colorblind"	"2023-11-30"
"GENCC_000106-HGNC_28209-OMIM_615703-HP_0000007-GENCC_100002"	"HGNC:28209"	"CEP19"	"MONDO:0014309"	"obesity due to CEP19 deficiency"	"OMIM:615703"	"Morbid obesity and spermatogenic failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28209"	"CEP19"	"OMIM:615703"	"obesity due to CEP19 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"24268657, 29127258"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BardetBiedl0CEP19"	"2023-11-30"
"GENCC_000106-HGNC_1859-OMIM_618358-HP_0000007-GENCC_100002"	"HGNC:1859"	"CEP250"	"MONDO:0020780"	"cone-rod dystrophy and hearing loss 2"	"OMIM:618358"	"Cone-rod dystrophy and hearing loss 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1859"	"CEP250"	"OMIM:618358"	"cone-rod dystrophy and hearing loss 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:13"	""	""	"24780881, 29718797"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP2500CEP250rel"	"2023-11-30"
"GENCC_000106-HGNC_29021-OMIM_615991-HP_0000007-GENCC_100002"	"HGNC:29021"	"CEP290"	"MONDO:0014442"	"Bardet-Biedl syndrome 14"	"OMIM:615991"	"?Bardet-Biedl syndrome 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29021"	"CEP290"	"OMIM:615991"	"Bardet-Biedl syndrome 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 22:57:44"	""	""	"16909394, 17345604, 18327255, 20690115, 23943788, 27486776"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP2900BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_29021-OMIM_610188-HP_0000007-GENCC_100002"	"HGNC:29021"	"CEP290"	"MONDO:0012432"	"Joubert syndrome 5"	"OMIM:610188"	"Joubert syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29021"	"CEP290"	"OMIM:610188"	"Joubert syndrome 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-16 16:21:05"	""	""	"16909394, 17345604, 20690115, 27434533"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP2900Joubert"	"2023-11-30"
"GENCC_000106-HGNC_1133-OMIM_307200-HP_0001417-GENCC_100002"	"HGNC:1133"	"BTK"	"MONDO:0010615"	"isolated growth hormone deficiency type III"	"OMIM:307200"	"Isolated growth hormone deficiency, type III, with agammaglobulinemia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:1133"	"BTK"	"OMIM:307200"	"Isolated growth hormone deficiency, type III, with agammaglobulinemia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:05"	""	""	"15661032, 16862044, 17709424, 18518992, 19419768, 2581110, 9545398"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BTK0Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_17966-OMIM_615862-HP_0000007-GENCC_100002"	"HGNC:17966"	"CEP83"	"MONDO:0014374"	"nephronophthisis 18"	"OMIM:615862"	"Nephronophthisis 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17966"	"CEP83"	"OMIM:615862"	"nephronophthisis 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"23530209, 24882706"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP830Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_21699-OMIM_608380-HP_0000007-GENCC_100002"	"HGNC:21699"	"CERKL"	"MONDO:0012024"	"retinitis pigmentosa 26"	"OMIM:608380"	"Retinitis pigmentosa 26"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21699"	"CERKL"	"OMIM:608380"	"retinitis pigmentosa 26"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-21 12:50:06"	""	""	"14681825, 18515597, 23591405, 24043777, 24547929, 26103963, 26393467"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CERKL0RP"	"2023-11-30"
"GENCC_000106-HGNC_1037-OMIM_612924-HP_0000005-GENCC_100004"	"HGNC:1037"	"CFB"	"MONDO:0013042"	"atypical hemolytic-uremic syndrome with B factor anomaly"	"OMIM:612924"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 4}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1037"	"CFB"	"OMIM:612924"	"atypical hemolytic-uremic syndrome with B factor anomaly"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-04 14:03:33"	""	""	"21902819, 24152280"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFB0AltCompDef"	"2023-11-30"
"GENCC_000106-HGNC_4883-OMIM_126700-HP_0000005-GENCC_100004"	"HGNC:4883"	"CFH"	"MONDO:0007472"	"basal laminar drusen"	"OMIM:126700"	"Basal laminar drusen"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4883"	"CFH"	"OMIM:126700"	"basal laminar drusen"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-03 15:24:23"	""	""	"17210858, 18252232, 22491393, 30905644"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFH0BLD"	"2023-11-30"
"GENCC_000106-HGNC_4883-OMIM_235400-HP_0000006-GENCC_100002"	"HGNC:4883"	"CFH"	"MONDO:0009335"	"hemolytic uremic syndrome, atypical, susceptibility to, 1"	"OMIM:235400"	"{Hemolytic uremic syndrome, atypical, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4883"	"CFH"	"OMIM:235400"	"hemolytic uremic syndrome, atypical, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-10 16:00:45"	""	""	"16621965, 20595690, 25188723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFH0HemolyticUremic"	"2023-11-30"
"GENCC_000106-HGNC_4883-OMIM_609814-HP_0000007-GENCC_100002"	"HGNC:4883"	"CFH"	"MONDO:0012350"	"complement factor H deficiency"	"OMIM:609814"	"Complement factor H deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4883"	"CFH"	"OMIM:609814"	"complement factor H deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"11170896, 14978182, 23870792"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFH0SecondaryC3Def"	"2023-11-30"
"GENCC_000106-HGNC_4888-OMIM_235400-HP_0000005-GENCC_100004"	"HGNC:4888"	"CFHR1"	"MONDO:0009335"	"hemolytic uremic syndrome, atypical, susceptibility to, 1"	"OMIM:235400"	"{Hemolytic uremic syndrome, atypical, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4888"	"CFHR1"	"OMIM:235400"	"hemolytic uremic syndrome, atypical, susceptibility to, 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-08 21:30:51"	""	""	"19745068, 19861685"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFHR10HemolyticUremic"	"2023-11-30"
"GENCC_000106-HGNC_4888-OMIM_603075-HP_0000005-GENCC_100004"	"HGNC:4888"	"CFHR1"	"MONDO:0011285"	"age related macular degeneration 1"	"OMIM:603075"	"{?Macular degeneration, age-related}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4888"	"CFHR1"	"OMIM:603075"	"age related macular degeneration 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-08 21:30:51"	""	""	"23830046"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFHR10MacularDegen"	"2023-11-30"
"GENCC_000106-HGNC_16980-OMIM_235400-HP_0000005-GENCC_100004"	"HGNC:16980"	"CFHR3"	"MONDO:0009335"	"hemolytic uremic syndrome, atypical, susceptibility to, 1"	"OMIM:235400"	"{Hemolytic uremic syndrome, atypical, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16980"	"CFHR3"	"OMIM:235400"	"hemolytic uremic syndrome, atypical, susceptibility to, 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-08 21:30:51"	""	""	"22626820"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFHR30Glomeru"	"2023-11-30"
"GENCC_000106-HGNC_5394-OMIM_612923-HP_0000006-GENCC_100002"	"HGNC:5394"	"CFI"	"MONDO:0013041"	"atypical hemolytic-uremic syndrome with I factor anomaly"	"OMIM:612923"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5394"	"CFI"	"OMIM:612923"	"atypical hemolytic-uremic syndrome with I factor anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-11 11:50:03"	""	""	"15917334, 16621965, 20016463"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFI0HemolyticUremic"	"2023-11-30"
"GENCC_000106-HGNC_5394-OMIM_615439-HP_0000005-GENCC_100004"	"HGNC:5394"	"CFI"	"MONDO:0014189"	"age related macular degeneration 13"	"OMIM:615439"	"{Macular degeneration, age-related, 13, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5394"	"CFI"	"OMIM:615439"	"age related macular degeneration 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-06-11 14:54:56"	""	""	"23685748, 24036952, 25352734"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFI0MacularDegen"	"2023-11-30"
"GENCC_000106-HGNC_1884-OMIM_219700-HP_0000007-GENCC_100002"	"HGNC:1884"	"CFTR"	"MONDO:0009061"	"cystic fibrosis"	"OMIM:219700"	"{Cystic fibrosis lung disease, modifier of}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1884"	"CFTR"	"OMIM:219700"	"cystic fibrosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 12:17:40"	""	""	"1695717, 7691345, 9725922"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CFTR0CysFibrosis"	"2023-11-30"
"GENCC_000106-HGNC_15559-OMIM_615911-HP_0000006-GENCC_100002"	"HGNC:15559"	"CHCHD10"	"MONDO:0014395"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"OMIM:615911"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15559"	"CHCHD10"	"OMIM:615911"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 12:54:22"	""	""	"24934289, 25193783, 25428574, 26152333, 26224640, 26666268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHCHD100ALS"	"2023-11-30"
"GENCC_000106-HGNC_15559-OMIM_616209-HP_0000006-GENCC_100004"	"HGNC:15559"	"CHCHD10"	"MONDO:0014532"	"autosomal dominant mitochondrial myopathy with exercise intolerance"	"OMIM:616209"	"?Myopathy, isolated mitochondrial, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15559"	"CHCHD10"	"OMIM:616209"	"autosomal dominant mitochondrial myopathy with exercise intolerance"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-11 13:34:57"	""	""	"25193783, 29519717, 9324076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHCHD100MitoMyopathy"	"2023-11-30"
"GENCC_000106-HGNC_15559-OMIM_615048-HP_0000006-GENCC_100002"	"HGNC:15559"	"CHCHD10"	"MONDO:0014025"	"lower motor neuron syndrome with late-adult onset"	"OMIM:615048"	"Spinal muscular atrophy, Jokela type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15559"	"CHCHD10"	"OMIM:615048"	"lower motor neuron syndrome with late-adult onset"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-30 07:33:36"	""	""	"21715705, 25428574, 26224640, 29315381, 29789341"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHCHD100SMA"	"2023-11-30"
"GENCC_000106-HGNC_1915-OMIM_617682-HP_0000005-GENCC_100004"	"HGNC:1915"	"CHD1"	"MONDO:0060568"	"Pilarowski-Bjornsson syndrome"	"OMIM:617682"	"Pilarowski-Bjornsson syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1915"	"CHD1"	"OMIM:617682"	"Pilarowski-Bjornsson syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-25 08:25:20"	""	""	"28866611"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD10Pilarowski"	"2023-11-30"
"GENCC_000106-HGNC_8768-OMIM_310490-HP_0001417-GENCC_100002"	"HGNC:8768"	"AIFM1"	"MONDO:0010689"	"Charcot-Marie-Tooth disease X-linked recessive 4"	"OMIM:310490"	"Cowchock syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8768"	"AIFM1"	"OMIM:310490"	"Cowchock syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-18 20:48:10"	""	""	"23217327, 30031633, 36907087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AIFM10CMT"	"2023-11-30"
"GENCC_000106-HGNC_20626-OMIM_612370-HP_0000006-GENCC_100002"	"HGNC:20626"	"CHD7"	"MONDO:0012880"	"hypogonadotropic hypogonadism 5 with or without anosmia"	"OMIM:612370"	"Hypogonadotropic hypogonadism 5 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20626"	"CHD7"	"OMIM:612370"	"Hypogonadotropic hypogonadism 5 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 19:38:19"	""	""	"18834967, 22399515, 22724017, 25077900, 29979396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD70Kallmann"	"2023-11-30"
"GENCC_000106-HGNC_16627-OMIM_114480-HP_0000006-GENCC_100002"	"HGNC:16627"	"CHEK2"	"MONDO:0016419"	"hereditary breast carcinoma"	"OMIM:114480"	"{Breast cancer, early-onset, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16627"	"CHEK2"	"OMIM:114480"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-28 08:53:59"	""	""	"15122511, 15492928, 16828850, 17164383, 18172190, 18759107, 19401704, 21807500, 21876083, 21956126, 22006311, 22901170, 23149842, 23713947, 23946381, 24713400, 25431674, 26014596, 26884562, 27269948, 27433846, 28418444, 28649662, 29493579, 29520813, 29522266, 29978187, 29988077, 30128536, 30287823, 30964716, 31050813, 31472684, 32521533, 32531112, 32782288, 32830346, 33442023, 33530461, 33660127, 33670479, 33692755, 33747205, 34271781, 34347074, 34549727, 34654685, 34992046, 35101071, 35174967, 35181726, 35267514, 35446370"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHEK20CHEK2relCanc"	"2023-11-30"
"GENCC_000106-HGNC_24537-OMIM_614696-HP_0000006-GENCC_100004"	"HGNC:24537"	"CHMP2B"	"MONDO:0010936"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"OMIM:614696"	"OMIM:614696"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24537"	"CHMP2B"	"OMIM:614696"	"amyotrophic lateral sclerosis type 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"16807408, 20352044, 22521643, 23155438, 26777436, 29895397"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHMP2B0ALS"	"2023-11-30"
"GENCC_000106-HGNC_24537-OMIM_600795-HP_0000006-GENCC_100002"	"HGNC:24537"	"CHMP2B"	"MONDO:0010936"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"OMIM:600795"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24537"	"CHMP2B"	"OMIM:600795"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 13:39:07"	""	""	"16041373, 17956895, 20223751, 20699355, 22366797"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHMP2B0FTD"	"2023-11-30"
"GENCC_000106-HGNC_3180-OMIM_600155-HP_0000005-GENCC_100004"	"HGNC:3180"	"EDNRB"	"MONDO:0010833"	"Hirschsprung disease, susceptibility to, 2"	"OMIM:600155"	"{Hirschsprung disease, susceptibility to, 2}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3180"	"EDNRB"	"OMIM:600155"	"{Hirschsprung disease, susceptibility to, 2}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 12:12:57"	""	""	"11891690, 16237557, 16618617, 17965226, 20127975, 23840513, 8001158, 8634719"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDNRB0Hirschsprung"	"2023-11-30"
"GENCC_000106-HGNC_1955-OMIM_608930-HP_0000007-GENCC_100002"	"HGNC:1955"	"CHRNA1"	"MONDO:0012156"	"myasthenic syndrome, congenital, 1B, fast-channel"	"OMIM:608930"	"Myasthenic syndrome, congenital, 1B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1955"	"CHRNA1"	"OMIM:608930"	"myasthenic syndrome, congenital, 1B, fast-channel"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-01 14:27:18"	""	""	"14719537, 15907919, 18252226"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNA10CMS"	"2023-11-30"
"GENCC_000106-HGNC_1955-OMIM_601462-HP_0000006-GENCC_100002"	"HGNC:1955"	"CHRNA1"	"MONDO:0011088"	"congenital myasthenic syndrome 1A"	"OMIM:601462"	"Myasthenic syndrome, congenital, 1A, slow-channel"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1955"	"CHRNA1"	"OMIM:601462"	"congenital myasthenic syndrome 1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 11:56:12"	""	""	"9158151, 7619526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNA10CMS02"	"2023-11-30"
"GENCC_000106-HGNC_1955-OMIM_253290-HP_0000007-GENCC_100004"	"HGNC:1955"	"CHRNA1"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"OMIM:253290"	"Multiple pterygium syndrome, lethal type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1955"	"CHRNA1"	"OMIM:253290"	"lethal multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-25 15:07:26"	""	""	"18252226, 23037934, 27626380"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNA10FADS"	"2023-11-30"
"GENCC_000106-HGNC_1965-OMIM_616323-HP_0000007-GENCC_100002"	"HGNC:1965"	"CHRND"	"MONDO:0014585"	"congenital myasthenic syndrome 3C"	"OMIM:616323"	"?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1965"	"CHRND"	"OMIM:616323"	"congenital myasthenic syndrome 3C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-01 14:29:09"	""	""	"1143546, 11435464, 23108489, 25264167, 26578207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRND0CMS02"	"2023-11-30"
"GENCC_000106-HGNC_1965-OMIM_253290-HP_0000007-GENCC_100002"	"HGNC:1965"	"CHRND"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"OMIM:253290"	"Multiple pterygium syndrome, lethal type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1965"	"CHRND"	"OMIM:253290"	"lethal multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:08"	""	""	"11435464, 18252226"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRND0FADS"	"2023-11-30"
"GENCC_000106-HGNC_1966-OMIM_616324-HP_0000007-GENCC_100002"	"HGNC:1966"	"CHRNE"	"MONDO:0014586"	"congenital myasthenic syndrome 4B"	"OMIM:616324"	"Myasthenic syndrome, congenital, 4B, fast-channel"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1966"	"CHRNE"	"OMIM:616324"	"congenital myasthenic syndrome 4B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-01 14:30:11"	""	""	"14719537, 15907919, 22678886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNE0CMS"	"2023-11-30"
"GENCC_000106-HGNC_1967-OMIM_253290-HP_0000007-GENCC_100002"	"HGNC:1967"	"CHRNG"	"MONDO:0009668"	"lethal multiple pterygium syndrome"	"OMIM:253290"	"Multiple pterygium syndrome, lethal type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1967"	"CHRNG"	"OMIM:253290"	"lethal multiple pterygium syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-12-12 10:01:36"	""	""	"16826520"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHRNG0MultPteryg"	"2023-11-30"
"GENCC_000106-HGNC_24579-OMIM_609439-HP_0000007-GENCC_100002"	"HGNC:24579"	"CIB2"	"MONDO:0012273"	"autosomal recessive nonsyndromic hearing loss 48"	"OMIM:609439"	"Deafness, autosomal recessive 48"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24579"	"CIB2"	"OMIM:609439"	"autosomal recessive nonsyndromic hearing loss 48"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"23023331, 251326, 26173970, 26226137, 26445815, 282524, 29112224"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CIB20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_24579-OMIM_614869-HP_0000005-GENCC_100004"	"HGNC:24579"	"CIB2"	"MONDO:0013935"	"Usher syndrome type 1J"	"OMIM:614869"	"Usher syndrome, type IJ"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24579"	"CIB2"	"OMIM:614869"	"Usher syndrome type 1J"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 09:28:46"	""	""	"23023331, 30459346"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CIB20Usher"	"2023-11-30"
"GENCC_000106-HGNC_24229-OMIM_615238-HP_0000005-GENCC_100004"	"HGNC:24229"	"CIDEC"	"MONDO:0014098"	"CIDEC-related familial partial lipodystrophy"	"OMIM:615238"	"?Lipodystrophy, familial partial, type 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24229"	"CIDEC"	"OMIM:615238"	"?Lipodystrophy, familial partial, type 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"20049731, 32041611, 33111339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CIDEC0?Lipodys"	"2023-11-30"
"GENCC_000106-HGNC_1985-OMIM_617090-HP_0000007-GENCC_100002"	"HGNC:1985"	"CIT"	"MONDO:0014908"	"microcephaly 17, primary, autosomal recessive"	"OMIM:617090"	"Microcephaly 17, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1985"	"CIT"	"OMIM:617090"	"microcephaly 17, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"27453579, 27503289"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CIT0Microcep"	"2023-11-30"
"GENCC_000106-HGNC_1987-OMIM_614431-HP_0000005-GENCC_100004"	"HGNC:1987"	"CITED2"	"MONDO:0013748"	"ventricular septal defect 2"	"OMIM:614431"	"Ventricular septal defect 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1987"	"CITED2"	"OMIM:614431"	"Ventricular septal defect 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-07 08:46:28"	""	""	"11694877, 16287139, 20654020, 22735262, 23082118, 24848765, 28358424, 28436679, 28687891, 28798025, 29368431, 29536580"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CITED20CongenitalHeart"	"2023-11-30"
"GENCC_000106-HGNC_2021-OMIM_619512-HP_0000006-GENCC_100002"	"HGNC:2021"	"CLCN3"	"MONDO:0859187"	"neurodevelopmental disorder with hypotonia and brain abnormalities"	"OMIM:619512"	"Neurodevelopmental disorder with hypotonia and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2021"	"CLCN3"	"OMIM:619512"	"neurodevelopmental disorder with hypotonia and brain abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:37:28"	""	""	"34186028"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN30Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_2021-OMIM_619517-HP_0000007-GENCC_100004"	"HGNC:2021"	"CLCN3"	"MONDO:0859188"	"neurodevelopmental disorder with seizures and brain abnormalities"	"OMIM:619517"	"Neurodevelopmental disorder with seizures and brain abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2021"	"CLCN3"	"OMIM:619517"	"neurodevelopmental disorder with seizures and brain abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:54:35"	""	""	"34186028"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN30Neurodev02"	"2023-11-30"
"GENCC_000106-HGNC_2023-OMIM_300009-HP_0001417-GENCC_100002"	"HGNC:2023"	"CLCN5"	"MONDO:0010225"	"Dent disease type 1"	"OMIM:300009"	"Dent disease 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2023"	"CLCN5"	"OMIM:300009"	"Dent disease type 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-11 14:23:33"	""	""	"11099045, 15086899, 22876375, 25907713, 9734594, 9734595"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN50DentDisease"	"2023-11-30"
"GENCC_000106-HGNC_2024-OMIM_619173-HP_0000006-GENCC_100002"	"HGNC:2024"	"CLCN6"	"MONDO:0030947"	"neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities"	"OMIM:619173"	"Ceroid lipofuscinosis, neuronal, 15"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2024"	"CLCN6"	"OMIM:619173"	"neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-22 12:29:30"	""	""	"28135719, 33217309"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN60CLCN6rel"	"2023-11-30"
"GENCC_000106-HGNC_2025-OMIM_618541-HP_0000006-GENCC_100002"	"HGNC:2025"	"CLCN7"	"MONDO:0032805"	"hypopigmentation, organomegaly, and delayed myelination and development"	"OMIM:618541"	"Hypopigmentation, organomegaly, and delayed myelination and development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2025"	"CLCN7"	"OMIM:618541"	"hypopigmentation, organomegaly, and delayed myelination and development"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-27 13:26:18"	""	""	"31155284"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN70HypopigOrganMyl"	"2023-11-30"
"GENCC_000106-HGNC_2025-OMIM_166600-HP_0000006-GENCC_100002"	"HGNC:2025"	"CLCN7"	"MONDO:0008156"	"autosomal dominant osteopetrosis 2"	"OMIM:166600"	"Osteopetrosis, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2025"	"CLCN7"	"OMIM:166600"	"autosomal dominant osteopetrosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:51:54"	""	""	"10617161, 11741829, 14584882, 19953639, 24336069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLCN70Osteopetrosis"	"2023-11-30"
"GENCC_000106-HGNC_11276-OMIM_600224-HP_0000006-GENCC_100002"	"HGNC:11276"	"SPTBN2"	"MONDO:0010848"	"spinocerebellar ataxia type 5"	"OMIM:600224"	"Spinocerebellar ataxia 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11276"	"SPTBN2"	"OMIM:600224"	"Spinocerebellar ataxia 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:48:50"	""	""	"16429157, 20368622, 20603325, 22843192, 22914369, 24603075, 25057192, 25981959, 26883385, 29915382, 31066025"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTBN20SCA"	"2023-11-30"
"GENCC_000106-HGNC_11891-OMIM_619977-HP_0000006-GENCC_100002"	"HGNC:11891"	"CLEC3B"	"MONDO:0859568"	"macular dystrophy, retinal, 4"	"OMIM:619977"	"Macular dystrophy, retinal, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11891"	"CLEC3B"	"OMIM:619977"	"Macular dystrophy, retinal, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 17:21:59"	""	""	"35331648"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLEC3B0RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_2063-OMIM_300886-HP_0000005-GENCC_100004"	"HGNC:2063"	"CLIC2"	"MONDO:0010473"	"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"	"OMIM:300886"	"Intellectual developmental disorder, X-linked, syndromic 32"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2063"	"CLIC2"	"OMIM:300886"	"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:52"	""	""	"24700761, 25927380, 28333917"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLIC20CLIC2rel"	"2023-11-30"
"GENCC_000106-HGNC_13517-OMIM_616042-HP_0000005-GENCC_100004"	"HGNC:13517"	"CLIC5"	"MONDO:0014469"	"autosomal recessive nonsyndromic hearing loss 103"	"OMIM:616042"	"?Deafness, autosomal recessive 103"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13517"	"CLIC5"	"OMIM:616042"	"autosomal recessive nonsyndromic hearing loss 103"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-02 19:52:17"	""	""	"17021174, 24781754"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLIC50Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2074-OMIM_204200-HP_0000007-GENCC_100002"	"HGNC:2074"	"CLN3"	"MONDO:0008767"	"neuronal ceroid lipofuscinosis 3"	"OMIM:204200"	"Ceroid lipofuscinosis, neuronal, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2074"	"CLN3"	"OMIM:204200"	"neuronal ceroid lipofuscinosis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-16 20:06:59"	""	""	"21990111, 9311735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLN30CLN"	"2023-11-30"
"GENCC_000106-HGNC_2077-OMIM_601780-HP_0000007-GENCC_100002"	"HGNC:2077"	"CLN6"	"MONDO:0011144"	"ceroid lipofuscinosis, neuronal, 6A"	"OMIM:601780"	"Ceroid lipofuscinosis, neuronal, 6A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2077"	"CLN6"	"OMIM:601780"	"ceroid lipofuscinosis, neuronal, 6A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 18:03:42"	""	""	"19135028"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLN60CLN"	"2023-11-30"
"GENCC_000106-HGNC_2079-OMIM_600143-HP_0000007-GENCC_100002"	"HGNC:2079"	"CLN8"	"MONDO:0010830"	"neuronal ceroid lipofuscinosis 8"	"OMIM:600143"	"Ceroid lipofuscinosis, neuronal, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2079"	"CLN8"	"OMIM:600143"	"neuronal ceroid lipofuscinosis 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 18:18:02"	""	""	"15024724, 36011304"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLN80CLN"	"2023-11-30"
"GENCC_000106-HGNC_16999-OMIM_615803-HP_0000007-GENCC_100004"	"HGNC:16999"	"CLP1"	"MONDO:0014349"	"pontocerebellar hypoplasia type 10"	"OMIM:615803"	"Pontocerebellar hypoplasia, type 10"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16999"	"CLP1"	"OMIM:615803"	"pontocerebellar hypoplasia type 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-10 13:44:33"	""	""	"24766809, 24766810, 28097321, 29307788"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLP10PCH"	"2023-11-30"
"GENCC_000106-HGNC_1071-OMIM_600625-HP_0000006-GENCC_100004"	"HGNC:1071"	"BMP4"	"MONDO:0010906"	"orofacial cleft 11"	"OMIM:600625"	"Orofacial cleft 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1071"	"BMP4"	"OMIM:600625"	"Orofacial cleft 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"19249007, 21340693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMP40Orofacial"	"2023-11-30"
"GENCC_000106-HGNC_1375-OMIM_600852-HP_0000006-GENCC_100002"	"HGNC:1375"	"CA4"	"MONDO:0010945"	"retinitis pigmentosa 17"	"OMIM:600852"	"Retinitis pigmentosa 17"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1375"	"CA4"	"OMIM:600852"	"Retinitis pigmentosa 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:43:27"	""	""	"15090652, 15563508, 17485676, 17652713, 19211803, 20308551, 20450258, 20626030, 25097241, 30718709, 33090715, 7581389"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CA40RP"	"2023-11-30"
"GENCC_000106-HGNC_12605-OMIM_614180-HP_0000007-GENCC_100002"	"HGNC:12605"	"CLRN1"	"MONDO:0013610"	"retinitis pigmentosa 61"	"OMIM:614180"	"Retinitis pigmentosa 61"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12605"	"CLRN1"	"OMIM:614180"	"retinitis pigmentosa 61"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-28 13:54:06"	""	""	"21310491, 25356976"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLRN10RP"	"2023-11-30"
"GENCC_000106-HGNC_12605-OMIM_276902-HP_0000007-GENCC_100002"	"HGNC:12605"	"CLRN1"	"MONDO:0010170"	"Usher syndrome type 3A"	"OMIM:276902"	"Usher syndrome, type 3A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12605"	"CLRN1"	"OMIM:276902"	"Usher syndrome type 3A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-19 13:34:21"	""	""	"11524702, 12080385, 14569126, 24498627, 282850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLRN10Usher"	"2023-11-30"
"GENCC_000106-HGNC_2092-OMIM_617854-HP_0000006-GENCC_100002"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"OMIM:617854"	"Intellectual developmental disorder, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2092"	"CLTC"	"OMIM:617854"	"intellectual disability, autosomal dominant 56"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 21:11:08"	""	""	"26822784, 29100083, 37196051"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLTC0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_2153-OMIM_262300-HP_0000007-GENCC_100002"	"HGNC:2153"	"CNGB3"	"MONDO:0009875"	"achromatopsia 3"	"OMIM:262300"	"Achromatopsia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2153"	"CNGB3"	"OMIM:262300"	"achromatopsia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 19:57:15"	""	""	"10888875, 10958649, 12140185, 12357335, 12815043, 15223812, 15657609, 16379026, 17265047, 19767295, 25558176, 26106334, 28795510, 30592498"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNGB30Achromatopsia"	"2023-11-30"
"GENCC_000106-HGNC_2153-OMIM_248200-HP_0000005-GENCC_100004"	"HGNC:2153"	"CNGB3"	"MONDO:0009549"	"severe early-childhood-onset retinal dystrophy"	"OMIM:248200"	"Stargardt disease 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2153"	"CNGB3"	"OMIM:248200"	"severe early-childhood-onset retinal dystrophy"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:23"	""	""	"15712225, 16379026, 26106334, 28041643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNGB30MacularDegen"	"2023-11-30"
"GENCC_000106-HGNC_2001-OMIM_601228-HP_0000006-GENCC_100002"	"HGNC:2001"	"GREM1"	"MONDO:0042486"	"polyposis syndrome, hereditary mixed, 1"	"OMIM:601228"	"{Colorectal cancer, susceptibility to, 4}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2001"	"GREM1"	"OMIM:601228"	"{Colorectal cancer, susceptibility to, 4}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:11"	""	""	"22561515, 25131200, 25419707, 26169059, 26493165, 28242209, 30152102"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GREM10GREM1relCanc"	"2023-11-30"
"GENCC_000106-HGNC_7877-OMIM_618500-HP_0000006-GENCC_100002"	"HGNC:7877"	"CNOT1"	"MONDO:0032787"	"holoprosencephaly 12 with or without pancreatic agenesis"	"OMIM:618500"	"Holoprosencephaly 12, with or without pancreatic agenesis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7877"	"CNOT1"	"OMIM:618500"	"holoprosencephaly 12 with or without pancreatic agenesis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-12 14:55:21"	""	""	"31006510, 31006513"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNOT10Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_7877-OMIM_619033-HP_0000006-GENCC_100002"	"HGNC:7877"	"CNOT1"	"MONDO:0033618"	"Vissers-Bodmer syndrome"	"OMIM:619033"	"Vissers-Bodmer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7877"	"CNOT1"	"OMIM:619033"	"Vissers-Bodmer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 18:25:49"	""	""	"32553196"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNOT10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_2158-OMIM_619071-HP_0000005-GENCC_100004"	"HGNC:2158"	"CNP"	"MONDO:0033657"	"leukodystrophy, hypomyelinating, 20"	"OMIM:619071"	"?Leukodystrophy, hypomyelinating, 20"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2158"	"CNP"	"OMIM:619071"	"leukodystrophy, hypomyelinating, 20"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-16 20:44:00"	""	""	"32128616"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNP0HLD"	"2023-11-30"
"GENCC_000106-HGNC_11968-OMIM_617929-HP_0000005-GENCC_100004"	"HGNC:11968"	"CNPY3"	"MONDO:0033369"	"developmental and epileptic encephalopathy, 60"	"OMIM:617929"	"Developmental and epileptic encephalopathy 60"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11968"	"CNPY3"	"OMIM:617929"	"developmental and epileptic encephalopathy, 60"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:11"	""	""	"29394991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNPY30CNPY3rel"	"2023-11-30"
"GENCC_000106-HGNC_2171-OMIM_612540-HP_0000007-GENCC_100002"	"HGNC:2171"	"CNTN1"	"MONDO:0012929"	"Compton-North congenital myopathy"	"OMIM:612540"	"Congenital myopathy 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2171"	"CNTN1"	"OMIM:612540"	"Compton-North congenital myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 08:44:17"	""	""	"19026398, 22242131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNTN10CM"	"2023-11-30"
"GENCC_000106-HGNC_8011-OMIM_616286-HP_0000007-GENCC_100002"	"HGNC:8011"	"CNTNAP1"	"MONDO:0014569"	"lethal congenital contracture syndrome 7"	"OMIM:616286"	"Lethal congenital contracture syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8011"	"CNTNAP1"	"OMIM:616286"	"lethal congenital contracture syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 07:43:21"	""	""	"11395000, 24319099, 29511323, 30686628"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNTNAP10LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_888-OMIM_614255-HP_0000006-GENCC_100002"	"HGNC:888"	"KIF1A"	"MONDO:0013656"	"intellectual disability, autosomal dominant 9"	"OMIM:614255"	"NESCAV syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:888"	"KIF1A"	"OMIM:614255"	"NESCAV syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-17 12:27:39"	""	""	"32096284"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF1A0NESCAV"	"2023-11-30"
"GENCC_000106-HGNC_33848-OMIM_616500-HP_0000005-GENCC_100004"	"HGNC:33848"	"COA5"	"MONDO:0014667"	"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3"	"OMIM:616500"	"?Mitochondrial complex IV, deficiency, nuclear type 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:33848"	"COA5"	"OMIM:616500"	"?Mitochondrial complex IV, deficiency, nuclear type 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:56"	""	""	"1923428, 21457908, 616500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COA50CardioEnceph"	"2023-11-30"
"GENCC_000106-HGNC_18025-OMIM_616501-HP_0000007-GENCC_100002"	"HGNC:18025"	"COA6"	"MONDO:0014668"	"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4"	"OMIM:616501"	"Mitochondrial complex IV deficiency, nuclear type 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18025"	"COA6"	"OMIM:616501"	"Mitochondrial complex IV deficiency, nuclear type 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"22277967, 24549041, 2595673, 25959673, 26160915, 26669719"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COA60Cardioen"	"2023-11-30"
"GENCC_000106-HGNC_29932-OMIM_615643-HP_0000007-GENCC_100002"	"HGNC:29932"	"COASY"	"MONDO:0014290"	"neurodegeneration with brain iron accumulation 6"	"OMIM:615643"	"Neurodegeneration with brain iron accumulation 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29932"	"COASY"	"OMIM:615643"	"neurodegeneration with brain iron accumulation 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-05 11:12:43"	""	""	"24360804, 27021474, 28489334, 28688840, 30089828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COASY0NBIA"	"2023-11-30"
"GENCC_000106-HGNC_29932-OMIM_618266-HP_0000007-GENCC_100002"	"HGNC:29932"	"COASY"	"MONDO:0032643"	"pontocerebellar hypoplasia, type 12"	"OMIM:618266"	"Pontocerebellar hypoplasia, type 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29932"	"COASY"	"OMIM:618266"	"pontocerebellar hypoplasia, type 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 02:47:59"	""	""	"30089828, 35499143"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COASY0PCH"	"2023-11-30"
"GENCC_000106-HGNC_14857-OMIM_613612-HP_0000007-GENCC_100002"	"HGNC:14857"	"COG5"	"MONDO:0013325"	"COG5-congenital disorder of glycosylation"	"OMIM:613612"	"Congenital disorder of glycosylation, type IIi"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14857"	"COG5"	"OMIM:613612"	"COG5-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-17 14:10:27"	""	""	"19690088, 23228021, 23430875"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COG50COG5CDG"	"2023-11-30"
"GENCC_000106-HGNC_2186-OMIM_618533-HP_0000006-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0032802"	"hearing loss, autosomal dominant 37"	"OMIM:618533"	"Deafness, autosomal dominant 37"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2186"	"COL11A1"	"OMIM:618533"	"hearing loss, autosomal dominant 37"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-07 14:14:14"	""	""	"30245514, 33169910"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL11A10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2186-OMIM_228520-HP_0000007-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0009226"	"fibrochondrogenesis 1"	"OMIM:228520"	"Fibrochondrogenesis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2186"	"COL11A1"	"OMIM:228520"	"fibrochondrogenesis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-10 22:24:21"	""	""	"37811191300927, 21035103, 21668896, 23026214, 244902, 4100752"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL11A10Fibrochondrogen"	"2023-11-30"
"GENCC_000106-HGNC_2186-OMIM_154780-HP_0000006-GENCC_100002"	"HGNC:2186"	"COL11A1"	"MONDO:0007949"	"Marshall syndrome"	"OMIM:154780"	"Marshall syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2186"	"COL11A1"	"OMIM:154780"	"Marshall syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-26 11:59:05"	""	""	"20513134, 25240749, 26377240, 32427345, 32756486"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL11A10Stickler"	"2023-11-30"
"GENCC_000106-HGNC_2187-OMIM_609706-HP_0000007-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0012333"	"autosomal recessive nonsyndromic hearing loss 53"	"OMIM:609706"	"Deafness, autosomal recessive 53"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2187"	"COL11A2"	"OMIM:609706"	"autosomal recessive nonsyndromic hearing loss 53"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"25633957, 26445815, 29456477, 33111345"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL11A20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2187-OMIM_601868-HP_0000006-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0011159"	"autosomal dominant nonsyndromic hearing loss 13"	"OMIM:601868"	"Deafness, autosomal dominant 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2187"	"COL11A2"	"OMIM:601868"	"autosomal dominant nonsyndromic hearing loss 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-05 13:18:22"	""	""	"10581026, 10677296, 10890148, 26969326, 31152317"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL11A20Deafness02"	"2023-11-30"
"GENCC_000106-HGNC_2187-OMIM_184840-HP_0000006-GENCC_100002"	"HGNC:2187"	"COL11A2"	"MONDO:0008490"	"otospondylomegaepiphyseal dysplasia, autosomal dominant"	"OMIM:184840"	"Otospondylomegaepiphyseal dysplasia, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2187"	"COL11A2"	"OMIM:184840"	"otospondylomegaepiphyseal dysplasia, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-28 20:41:59"	""	""	"10581026, 10677296, 12673280, 15372529, 25780254, 26969326, 7859284, 9506662"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL11A20Stickler"	"2023-11-30"
"GENCC_000106-HGNC_2197-OMIM_130060-HP_0000006-GENCC_100002"	"HGNC:2197"	"COL1A1"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"OMIM:130060"	"Ehlers-Danlos syndrome, arthrochalasia type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2197"	"COL1A1"	"OMIM:130060"	"Ehlers-Danlos syndrome, arthrochalasis type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 12:01:51"	""	""	"10739762, 11073542, 17211858, 18409203, 1867198, 2767050, 3082886, 7942841, 9295084, 9443882"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL1A10EhlersDanlos"	"2023-11-30"
"GENCC_000106-HGNC_2197-OMIM_259420-HP_0000006-GENCC_100002"	"HGNC:2197"	"COL1A1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"OMIM:259420"	"Osteogenesis imperfecta, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2197"	"COL1A1"	"OMIM:259420"	"osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 15:27:18"	""	""	"10417276, 11286507, 15024692, 1634225, 1737847, 1988452, 2037280, 21834035, 21912751, 2295701, 2298750, 2309707, 2402497, 2500431, 2745420, 2794057, 2913053, 3108247, 3170557, 3198624, 3244312, 3403550, 3722186, 4031065, 6469997, 7789952, 7942841, 8097422, 8408653, 8723681, 8757937, 9007315, 9067755, 9295084, 9443882"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL1A10OI"	"2023-11-30"
"GENCC_000106-HGNC_2198-OMIM_130060-HP_0000007-GENCC_100002"	"HGNC:2198"	"COL1A2"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"OMIM:130060"	"Ehlers-Danlos syndrome, arthrochalasia type, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2198"	"COL1A2"	"OMIM:130060"	"Ehlers-Danlos syndrome, arthrochalasis type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-03-28 14:43:31"	""	""	"11288717, 15077201, 1556139, 1577745, 16816023, 1712342, 1990839, 2454224, 2777808, 2993307, 30821104, 9295084"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL1A20EhlersDanlos"	"2023-11-30"
"GENCC_000106-HGNC_2198-OMIM_259420-HP_0000006-GENCC_100002"	"HGNC:2198"	"COL1A2"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"OMIM:259420"	"Osteogenesis imperfecta, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2198"	"COL1A2"	"OMIM:259420"	"osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-14 20:43:03"	""	""	"10807697, 11288717, 11836364, 1301191, 1711048, 1874719, 2064612, 27510842, 2839839, 2897363, 2914942, 29572562, 3372533, 6092353, 7749416, 8081394, 8444468, 8456807, 8786065, 8829655, 8950681, 9099837, 9268111, 9923651"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL1A20OI"	"2023-11-30"
"GENCC_000106-HGNC_2198-OMIM_617821-HP_0000006-GENCC_100002"	"HGNC:2198"	"COL1A2"	"MONDO:0040501"	"ehlers-danlos syndrome, arthrochalasia type, 2"	"OMIM:617821"	"Ehlers-Danlos syndrome, arthrochalasia type, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2198"	"COL1A2"	"OMIM:617821"	"ehlers-danlos syndrome, arthrochalasia type, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 10:57:05"	""	""	"18409203, 9295084"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EhlersDanlos0COL1A2"	"2023-11-30"
"GENCC_000106-HGNC_18603-OMIM_616219-HP_0000007-GENCC_100002"	"HGNC:18603"	"COL25A1"	"MONDO:0014538"	"fibrosis of extraocular muscles, congenital, 5"	"OMIM:616219"	"Fibrosis of extraocular muscles, congenital, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18603"	"COL25A1"	"OMIM:616219"	"fibrosis of extraocular muscles, congenital, 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"24453327, 25500261, 30971718, 35077597"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL25A10COL25A1rel"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_200610-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0008702"	"achondrogenesis type II"	"OMIM:200610"	"Achondrogenesis, type II or hypochondrogenesis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:200610"	"achondrogenesis type II"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-17 07:36:36"	""	""	"10745044, 10797431, 2572591, 26443184, 26626311, 7741714, 8723098, 9314159"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10Achondrogenesis"	"2023-11-30"
"GENCC_000106-HGNC_1762-OMIM_601553-HP_0000007-GENCC_100002"	"HGNC:1762"	"CDH3"	"MONDO:0011107"	"congenital hypotrichosis with juvenile macular dystrophy"	"OMIM:601553"	"Hypotrichosis, congenital, with juvenile macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1762"	"CDH3"	"OMIM:601553"	"Hypotrichosis, congenital, with juvenile macular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 11:44:43"	""	""	"10508653, 12445216, 14708629, 16120155, 17342797, 18199584, 20203473, 22348569, 26885695, 27386845, 29260097"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH30Hypotrichosis"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_215150-HP_0000006-GENCC_100004"	"HGNC:2200"	"COL2A1"	"MONDO:0044206"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"OMIM:215150"	"Otospondylomegaepiphyseal dysplasia, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:215150"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-06 14:53:04"	""	""	"16189708, 26626311"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10OSME"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_183900-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0008471"	"spondyloepiphyseal dysplasia congenita"	"OMIM:183900"	"SED congenita"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:183900"	"spondyloepiphyseal dysplasia congenita"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 12:04:47"	""	""	"11771668, 12917109, 15076581, 16088915, 17509551, 21472893, 21924244, 22028304, 25604898, 25735649, 25967556, 26030151, 26443184, 27059630, 8325895"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10Spondyloepiph"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_215150-HP_0000007-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0044206"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"OMIM:215150"	"Otospondylomegaepiphyseal dysplasia, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:215150"	"otospondylomegaepiphyseal dysplasia, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 14:53:04"	""	""	"12968670, 25060605, 26358419, 26626311, 31755234, 48380664, 9915573"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10Spondyloepiph02"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_609508-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0012287"	"Stickler syndrome, type I, nonsyndromic ocular"	"OMIM:609508"	"Stickler syndrome, type I, nonsyndromic ocular"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:609508"	"Stickler syndrome, type I, nonsyndromic ocular"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 17:34:41"	""	""	"10729292, 15895462, 18276201, 20179744, 20513134"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10Stickler"	"2023-11-30"
"GENCC_000106-HGNC_6931-OMIM_602025-HP_0000005-GENCC_100004"	"HGNC:6931"	"MC3R"	"MONDO:0044272"	"body mass index quantitative trait locus 9"	"OMIM:602025"	"{Obesity, severe, susceptibility to, BMIQ9}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6931"	"MC3R"	"OMIM:602025"	"{Obesity, severe, susceptibility to, BMIQ9}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-04-19 21:53:43"	""	""	"11889220, 17639020, 17964765, 19091795, 20539302, 21047972, 22884546, 25798062, 26818770, 29970488, 30926952"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MC3R0Obesity"	"2023-11-30"
"GENCC_000106-HGNC_2203-OMIM_614483-HP_0000006-GENCC_100002"	"HGNC:2203"	"COL4A2"	"MONDO:0013773"	"porencephaly 2"	"OMIM:614483"	"Brain small vessel disease 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2203"	"COL4A2"	"OMIM:614483"	"porencephaly 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-24 18:51:19"	""	""	"22209246, 22209247, 22333902, 24001601, 25719457, 26663670, 26708157, 30315939"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL4A20Porencephaly"	"2023-11-30"
"GENCC_000106-HGNC_2204-OMIM_141200-HP_0000006-GENCC_100002"	"HGNC:2204"	"COL4A3"	"MONDO:0007709"	"hematuria, benign familial, 1"	"OMIM:141200"	"Hematuria, familial benign, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2204"	"COL4A3"	"OMIM:141200"	"hematuria, benign familial"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 23:45:58"	""	""	"11044206, 11134255, 12028435, 16338941, 26809805, 26934356, 27281700, 29551517"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL4A30Alport02"	"2023-11-30"
"GENCC_000106-HGNC_2206-OMIM_141200-HP_0000006-GENCC_100002"	"HGNC:2206"	"COL4A4"	"MONDO:0007709"	"hematuria, benign familial, 1"	"OMIM:141200"	"Hematuria, familial benign, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2206"	"COL4A4"	"OMIM:141200"	"hematuria, benign familial"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-29 01:13:19"	""	""	"24854265, 25307543, 26809805, 27281700"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL4A40Alport02"	"2023-11-30"
"GENCC_000106-HGNC_2208-OMIM_300914-HP_0001417-GENCC_100002"	"HGNC:2208"	"COL4A6"	"MONDO:0010484"	"hearing loss, X-linked 6"	"OMIM:300914"	"?Deafness, X-linked 6"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2208"	"COL4A6"	"OMIM:300914"	"hearing loss, X-linked 6"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-22 19:31:18"	""	""	"244140625, 140975, 23714752, 32747562, 33840813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL4A60Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2209-OMIM_130000-HP_0000006-GENCC_100002"	"HGNC:2209"	"COL5A1"	"MONDO:0019567"	"Ehlers-Danlos syndrome, classic type, 1"	"OMIM:130000"	"Ehlers-Danlos syndrome, classic type, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2209"	"COL5A1"	"OMIM:130000"	"Ehlers-Danlos syndrome, classic type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-19 07:02:40"	""	""	"23587214, 32938213"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL5A10EDS0old"	"2023-11-30"
"GENCC_000106-HGNC_11908-OMIM_602080-HP_0000006-GENCC_100002"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0011183"	"Paget disease of bone 2, early-onset"	"OMIM:602080"	"{Paget disease of bone 2, early-onset}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11908"	"TNFRSF11A"	"OMIM:602080"	"{Paget disease of bone 2, early-onset}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"10615125, 12362049, 17447113, 19578385, 21472776, 25063546, 30756140"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF11A0EOS"	"2023-11-30"
"GENCC_000106-HGNC_3666-OMIM_620193-HP_0000006-GENCC_100002"	"HGNC:3666"	"FGF10"	"MONDO:0859578"	"lacrimoauriculodentodigital syndrome 3"	"OMIM:620193"	"LADD syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3666"	"FGF10"	"OMIM:620193"	"LADD syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 20:51:40"	""	""	"15654336, 16501574, 16630169, 17213838, 26955834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF100related"	"2023-11-30"
"GENCC_000106-HGNC_7685-OMIM_618235-HP_0000007-GENCC_100002"	"HGNC:7685"	"NDUFA2"	"MONDO:0032618"	"mitochondrial complex 1 deficiency, nuclear type 13"	"OMIM:618235"	"Mitochondrial complex I deficiency, nuclear type 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7685"	"NDUFA2"	"OMIM:618235"	"Mitochondrial complex I deficiency, nuclear type 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-05 10:57:53"	""	""	"18513682, 25590979, 27159321, 28857146, 32154054"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFA20MC1def"	"2023-11-30"
"GENCC_000106-HGNC_24725-OMIM_602361-HP_0000006-GENCC_100002"	"HGNC:24725"	"FAM111A"	"MONDO:0011215"	"osteocraniostenosis"	"OMIM:602361"	"Gracile bone dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24725"	"FAM111A"	"OMIM:602361"	"Gracile bone dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:16"	""	""	"23684011, 31910817, 32981126, 33726816, 33750016, 34930662, 35205306"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM111A0GracileB"	"2023-11-30"
"GENCC_000106-HGNC_2213-OMIM_616411-HP_0000007-GENCC_100002"	"HGNC:2213"	"COL6A3"	"MONDO:0014627"	"dystonia 27"	"OMIM:616411"	"Dystonia 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2213"	"COL6A3"	"OMIM:616411"	"dystonia 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:54"	""	""	"26004199, 26872670"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL6A30Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_24323-OMIM_601665-HP_0000005-GENCC_100004"	"HGNC:24323"	"CARTPT"	"MONDO:0019182"	"inherited obesity"	"OMIM:601665"	"{Obesity, late-onset}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24323"	"CARTPT"	"OMIM:601665"	"{?Obesity, susceptibility to"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-05 14:19:58"	""	""	"11522684, 15326462"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARTPT0NSO"	"2023-11-30"
"GENCC_000106-HGNC_16268-OMIM_612020-HP_0000007-GENCC_100002"	"HGNC:16268"	"PNPLA6"	"MONDO:0012787"	"hereditary spastic paraplegia 39"	"OMIM:612020"	"Spastic paraplegia 39, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16268"	"PNPLA6"	"OMIM:612020"	"Spastic paraplegia 39, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-08 12:29:20"	""	""	"23733235, 24355708, 25574898"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNPLA60SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_2214-OMIM_131750-HP_0000006-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007549"	"generalized dominant dystrophic epidermolysis bullosa"	"OMIM:131750"	"Epidermolysis bullosa dystrophica, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2214"	"COL7A1"	"OMIM:131750"	"generalized dominant dystrophic epidermolysis bullosa"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"16971478, 19726672, 21448560, 9668111, 9881948"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL7A10EpidermBullDys"	"2023-11-30"
"GENCC_000106-HGNC_2214-OMIM_132000-HP_0000007-GENCC_100002"	"HGNC:2214"	"COL7A1"	"MONDO:0007557"	"epidermolysis bullosa with congenital localized absence of skin and deformity of nails"	"OMIM:132000"	"Epidermolysis bullosa dystrophica, Bart type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2214"	"COL7A1"	"OMIM:132000"	"epidermolysis bullosa with congenital localized absence of skin and deformity of nails"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"16484981, 16971478, 21448560"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL7A10RDEB"	"2023-11-30"
"GENCC_000106-HGNC_2216-OMIM_609140-HP_0000006-GENCC_100002"	"HGNC:2216"	"COL8A2"	"MONDO:0012199"	"posterior polymorphous corneal dystrophy 2"	"OMIM:609140"	"Corneal dystrophy, posterior polymorphous 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2216"	"COL8A2"	"OMIM:609140"	"Corneal dystrophy, posterior polymorphous 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-10 07:01:35"	""	""	"11689488, 15914606, 18024822, 18464802, 22002996, 23422828, 23585771, 27366696"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL8A20CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_2217-OMIM_614135-HP_0000005-GENCC_100004"	"HGNC:2217"	"COL9A1"	"MONDO:0013591"	"epiphyseal dysplasia, multiple, 6"	"OMIM:614135"	"?Epiphyseal dysplasia, multiple, 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2217"	"COL9A1"	"OMIM:614135"	"epiphyseal dysplasia, multiple, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-07-29 14:33:03"	""	""	"11565064, 23967202, 27959697, 8197187, 8464901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL9A10EpiphysDys"	"2023-11-30"
"GENCC_000106-HGNC_2219-OMIM_600969-HP_0000006-GENCC_100002"	"HGNC:2219"	"COL9A3"	"MONDO:0010964"	"epiphyseal dysplasia, multiple, 3"	"OMIM:600969"	"Epiphyseal dysplasia, multiple, 3, with or without myopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2219"	"COL9A3"	"OMIM:600969"	"epiphyseal dysplasia, multiple, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 12:56:10"	""	""	"10090888, 15551337, 21042783, 21922596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL9A30EpiphysDys"	"2023-11-30"
"GENCC_000106-HGNC_2219-OMIM_620022-HP_0000007-GENCC_100002"	"HGNC:2219"	"COL9A3"	"MONDO:0031047"	"Stickler syndrome, type 6"	"OMIM:620022"	"Stickler syndrome, type VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2219"	"COL9A3"	"OMIM:620022"	"stickler syndrome, IIa 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-04 10:16:26"	""	""	"20686772, 24273071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL9A30Stickler"	"2023-11-30"
"GENCC_000106-HGNC_2227-OMIM_177170-HP_0000005-GENCC_100004"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"OMIM:177170"	"Pseudoachondroplasia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2227"	"COMP"	"OMIM:177170"	"pseudoachondroplasia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-01-10 16:58:40"	""	""	"28685811"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COMP0COMPrel"	"2023-11-30"
"GENCC_000106-HGNC_2227-OMIM_132400-HP_0000006-GENCC_100002"	"HGNC:2227"	"COMP"	"MONDO:0007561"	"multiple epiphyseal dysplasia type 1"	"OMIM:132400"	"Epiphyseal dysplasia, multiple, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2227"	"COMP"	"OMIM:132400"	"multiple epiphyseal dysplasia type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 23:20:43"	""	""	"12024046, 12483304, 15756302, 17570134, 17588960, 21922596, 21965141, 30008475"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COMP0EpiphysDys"	"2023-11-30"
"GENCC_000106-HGNC_2227-OMIM_177170-HP_0000006-GENCC_100002"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"OMIM:177170"	"Pseudoachondroplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2227"	"COMP"	"OMIM:177170"	"pseudoachondroplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-10 16:58:40"	""	""	"12024046, 12483304, 15756302, 17570134, 17588960, 21922596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COMP0Pseudoachondro"	"2023-11-30"
"GENCC_000106-HGNC_2232-OMIM_617800-HP_0000005-GENCC_100004"	"HGNC:2232"	"COPB2"	"MONDO:0054716"	"microcephaly 19, primary, autosomal recessive"	"OMIM:617800"	"?Microcephaly 19, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2232"	"COPB2"	"OMIM:617800"	"microcephaly 19, primary, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-09-24 23:43:43"	""	""	"10191085, 28191890, 29036432, 31191203, 37734708"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COPB20COPB2rel"	"2023-11-30"
"GENCC_000106-HGNC_10549-OMIM_603516-HP_0000006-GENCC_100002"	"HGNC:10549"	"ATXN10"	"MONDO:0011330"	"spinocerebellar ataxia type 10"	"OMIM:603516"	"Spinocerebellar ataxia 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10549"	"ATXN10"	"OMIM:603516"	"Spinocerebellar ataxia 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-15 16:31:36"	""	""	"11506407, 15505178, 16385455, 16717236, 16924013, 17420323, 19936807, 20548952, 22065565, 24278426"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATXN100SCA"	"2023-11-30"
"GENCC_000106-HGNC_9360-OMIM_603553-HP_0000007-GENCC_100002"	"HGNC:9360"	"PRF1"	"MONDO:0011337"	"familial hemophagocytic lymphohistiocytosis 2"	"OMIM:603553"	"Hemophagocytic lymphohistiocytosis, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9360"	"PRF1"	"OMIM:603553"	"Hemophagocytic lymphohistiocytosis, familial, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-24 21:19:00"	""	""	"1156555, 14757862, 15365097, 15632205, 16860143, 21881043, 24966707"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRF10HemophagLymph"	"2023-11-30"
"GENCC_000106-HGNC_19012-OMIM_614595-HP_0000005-GENCC_100004"	"HGNC:19012"	"CORIN"	"MONDO:0013817"	"preeclampsia/eclampsia 5"	"OMIM:614595"	"Preeclampsia/eclampsia 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19012"	"CORIN"	"OMIM:614595"	"Preeclampsia/eclampsia 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-30 09:07:16"	""	""	"22437503, 24828501"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CORIN0Preeclampsia"	"2023-11-30"
"GENCC_000106-HGNC_7579-OMIM_603622-HP_0000006-GENCC_100002"	"HGNC:7579"	"MYH9"	"MONDO:0011350"	"autosomal dominant nonsyndromic hearing loss 17"	"OMIM:603622"	"Deafness, autosomal dominant 17"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7579"	"MYH9"	"OMIM:603622"	"Deafness, autosomal dominant 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-13 12:52:30"	""	""	"11023810, 17146397, 18330899, 20416459, 25077172, 25505834, 26226608, 9390828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH90Deafness"	"2023-11-30"
"GENCC_000106-HGNC_28216-OMIM_220110-HP_0000005-GENCC_100004"	"HGNC:28216"	"COX14"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"OMIM:220110"	"Mitochondrial complex IV deficiency, nuclear type 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28216"	"COX14"	"OMIM:220110"	"cytochrome-c oxidase deficiency disease"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-19 11:37:57"	""	""	"22243966"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX140MC4def"	"2023-11-30"
"GENCC_000106-HGNC_2263-OMIM_615119-HP_0000007-GENCC_100002"	"HGNC:2263"	"COX15"	"MONDO:0014051"	"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2"	"OMIM:615119"	"Mitochondrial complex IV deficiency, nuclear type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2263"	"COX15"	"OMIM:615119"	"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-07 14:24:41"	""	""	"15863660, 21412973, 21723506, 26959537"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX150MC4def"	"2023-11-30"
"GENCC_000106-HGNC_2267-OMIM_619064-HP_0000005-GENCC_100004"	"HGNC:2267"	"COX5A"	"MONDO:0033655"	"mitochondrial complex 4 deficiency, nuclear type 20"	"OMIM:619064"	"Mitochondrial complex IV deficiency, nuclear type 20"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2267"	"COX5A"	"OMIM:619064"	"mitochondrial complex 4 deficiency, nuclear type 20"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-20 08:48:35"	""	""	"28247525"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX5A0COX5Arel"	"2023-11-30"
"GENCC_000106-HGNC_2279-OMIM_619062-HP_0000007-GENCC_100004"	"HGNC:2279"	"COX6A2"	"MONDO:0033653"	"mitochondrial complex 4 deficiency, nuclear type 18"	"OMIM:619062"	"Mitochondrial complex IV deficiency, nuclear type 18"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2279"	"COX6A2"	"OMIM:619062"	"mitochondrial complex 4 deficiency, nuclear type 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-12-09 17:08:25"	""	""	"11788423, 31155743"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX6A20CytoCOxdef"	"2023-11-30"
"GENCC_000106-HGNC_2294-OMIM_220110-HP_0000005-GENCC_100004"	"HGNC:2294"	"COX8A"	"MONDO:0009068"	"cytochrome-c oxidase deficiency disease"	"OMIM:220110"	"Mitochondrial complex IV deficiency, nuclear type 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2294"	"COX8A"	"OMIM:220110"	"cytochrome-c oxidase deficiency disease"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-23 11:29:11"	""	""	"26685157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX8A0?Mitocho02"	"2023-11-30"
"GENCC_000106-HGNC_2303-OMIM_619326-HP_0000007-GENCC_100002"	"HGNC:2303"	"CPE"	"MONDO:0859150"	"BDV syndrome"	"OMIM:619326"	"BDV syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2303"	"CPE"	"OMIM:619326"	"BDV syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-20 11:56:49"	""	""	"11462236, 15358678, 26120850, 7663508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPE0CPErel"	"2023-11-30"
"GENCC_000106-HGNC_25801-OMIM_614615-HP_0000007-GENCC_100002"	"HGNC:25801"	"CPLANE1"	"MONDO:0013824"	"Joubert syndrome 17"	"OMIM:614615"	"Joubert syndrome 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25801"	"CPLANE1"	"OMIM:614615"	"Joubert syndrome 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:31:58"	""	""	"186216, 188776, 22425360, 247746, 249488, 250344, 26092869, 280178, 282576"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C5orf420Joubert"	"2023-11-30"
"GENCC_000106-HGNC_25801-OMIM_277170-HP_0000007-GENCC_100002"	"HGNC:25801"	"CPLANE1"	"MONDO:0010176"	"orofaciodigital syndrome type 6"	"OMIM:277170"	"Orofaciodigital syndrome VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25801"	"CPLANE1"	"OMIM:277170"	"orofaciodigital syndrome type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:34:19"	""	""	"188678, 188776, 24178751, 251300, 251426, 251470, 25407461, 27081551, 27894351"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C5orf420OFD"	"2023-11-30"
"GENCC_000106-HGNC_2330-OMIM_608836-HP_0000007-GENCC_100002"	"HGNC:2330"	"CPT2"	"MONDO:0012136"	"carnitine palmitoyl transferase II deficiency, neonatal form"	"OMIM:608836"	"CPT II deficiency, lethal neonatal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2330"	"CPT2"	"OMIM:608836"	"carnitine palmitoyl transferase II deficiency, neonatal form"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-27 11:56:18"	""	""	"10090476, 10873395, 12673791, 12707442, 15622536, 15642848, 16781677, 16996287, 18306170, 19762733, 21913903, 600650"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPT20CPT2def02"	"2023-11-30"
"GENCC_000106-HGNC_2330-OMIM_614212-HP_0000005-GENCC_100004"	"HGNC:2330"	"CPT2"	"MONDO:0013633"	"encephalopathy, acute, infection-induced, susceptibility to, 4"	"OMIM:614212"	"{Encephalopathy, acute, infection-induced, 4, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2330"	"CPT2"	"OMIM:614212"	"{Encephalopathy, acute, infection-induced, 4, susceptibility to}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-25 09:56:33"	""	""	"10873395, 18430572, 19762733, 7338455"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPT20MaligHypertherm"	"2023-11-30"
"GENCC_000106-HGNC_2342-OMIM_617917-HP_0000005-GENCC_100004"	"HGNC:2342"	"CRAT"	"MONDO:0054764"	"neurodegeneration with brain iron accumulation 8"	"OMIM:617917"	"?Neurodegeneration with brain iron accumulation 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2342"	"CRAT"	"OMIM:617917"	"neurodegeneration with brain iron accumulation 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:07"	""	""	"29395073, 31448845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRAT0NBIA"	"2023-11-30"
"GENCC_000106-HGNC_2343-OMIM_613835-HP_0000007-GENCC_100002"	"HGNC:2343"	"CRB1"	"MONDO:0013453"	"Leber congenital amaurosis 8"	"OMIM:613835"	"Leber congenital amaurosis 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2343"	"CRB1"	"OMIM:613835"	"Leber congenital amaurosis 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 20:27:49"	""	""	"20956273, 23379534"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRB10Leber"	"2023-11-30"
"GENCC_000106-HGNC_2343-OMIM_600105-HP_0000007-GENCC_100002"	"HGNC:2343"	"CRB1"	"MONDO:0010818"	"retinitis pigmentosa 12"	"OMIM:600105"	"Retinitis pigmentosa-12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2343"	"CRB1"	"OMIM:600105"	"retinitis pigmentosa 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-16 09:35:36"	""	""	"10508521, 11389483, 12843338, 18055816, 19140180, 20956273, 22065545, 23379534, 28819299"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRB10RP"	"2023-11-30"
"GENCC_000106-HGNC_12559-OMIM_162000-HP_0000006-GENCC_100002"	"HGNC:12559"	"UMOD"	"MONDO:0008073"	"familial juvenile hyperuricemic nephropathy type 1"	"OMIM:162000"	"Tubulointerstitial kidney disease, autosomal dominant, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12559"	"UMOD"	"OMIM:162000"	"Tubulointerstitial kidney disease, autosomal dominant, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-27 20:36:29"	""	""	"12629136, 14569098, 15983957, 17010121, 21868615"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UMOD0HNFJ1"	"2023-11-30"
"GENCC_000106-HGNC_2348-OMIM_618332-HP_0000006-GENCC_100002"	"HGNC:2348"	"CREBBP"	"MONDO:0020763"	"Menke-Hennekam syndrome 1"	"OMIM:618332"	"Menke-Hennekam syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2348"	"CREBBP"	"OMIM:618332"	"Menke-Hennekam syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 15:22:41"	""	""	"29460469"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CREBBP0Menke-Hennekam"	"2023-11-30"
"GENCC_000106-HGNC_2359-OMIM_602499-HP_0000005-GENCC_100004"	"HGNC:2359"	"CRIM1"	"MONDO:0011239"	"colobomatous macrophthalmia-microcornea syndrome"	"OMIM:602499"	"Macrophthalmia, colobomatous, with microcornea"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2359"	"CRIM1"	"OMIM:602499"	"Macrophthalmia, colobomatous, with microcornea"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-02-06 09:06:09"	""	""	"25561690, 30365943, 30653986, 30689869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRIM10CRIM1rel"	"2023-11-30"
"GENCC_000106-HGNC_4827-OMIM_603902-HP_0000006-GENCC_100002"	"HGNC:4827"	"HBB"	"MONDO:0011381"	"dominant beta-thalassemia"	"OMIM:603902"	"Thalassemia-beta, dominant inclusion-body"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4827"	"HBB"	"OMIM:603902"	"Thalassemia-beta, dominant inclusion-body"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 19:27:53"	""	""	"11939518, 1199518, 16189162, 1971109, 23637309, 23776097, 2563949, 3014870, 8978308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBB0Hemoglobinopath"	"2023-11-30"
"GENCC_000106-HGNC_2383-OMIM_613829-HP_0000006-GENCC_100002"	"HGNC:2383"	"CRX"	"MONDO:0013449"	"Leber congenital amaurosis 7"	"OMIM:613829"	"Leber congenital amaurosis 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2383"	"CRX"	"OMIM:613829"	"Leber congenital amaurosis 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-30 19:42:40"	""	""	"11328746, 11748859, 12843339, 17964524, 24516401, 27208204, 31626798, 35934205, 9390562"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRX0Leber"	"2023-11-30"
"GENCC_000106-HGNC_2389-OMIM_613763-HP_0000007-GENCC_100002"	"HGNC:2389"	"CRYAB"	"MONDO:0013411"	"cataract 16 multiple types"	"OMIM:613763"	"Cataract 16, multiple types"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2389"	"CRYAB"	"OMIM:613763"	"cataract 16 multiple types"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-07 14:14:52"	""	""	"19597569, 21087083, 23194663"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYAB0Cataract"	"2023-11-30"
"GENCC_000106-HGNC_4827-OMIM_603903-HP_0000007-GENCC_100002"	"HGNC:4827"	"HBB"	"MONDO:0011382"	"sickle cell anemia"	"OMIM:603903"	"Sickle cell disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4827"	"HBB"	"OMIM:603903"	"Sickle cell disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 11:37:37"	""	""	"20301551, 6268660"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBB0SickleCellDis"	"2023-11-30"
"GENCC_000106-HGNC_2389-OMIM_608810-HP_0000006-GENCC_100002"	"HGNC:2389"	"CRYAB"	"MONDO:0012130"	"myofibrillar myopathy 2"	"OMIM:608810"	"Myopathy, myofibrillar, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2389"	"CRYAB"	"OMIM:608810"	"myofibrillar myopathy 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-21 07:04:10"	""	""	"10339554, 14681890, 23194663, 25961584"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYAB0MFM"	"2023-11-30"
"GENCC_000106-HGNC_2389-OMIM_613869-HP_0000007-GENCC_100002"	"HGNC:2389"	"CRYAB"	"MONDO:0013472"	"fatal infantile hypertonic myofibrillar myopathy"	"OMIM:613869"	"Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2389"	"CRYAB"	"OMIM:613869"	"fatal infantile hypertonic myofibrillar myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"11687538, 21130652, 21337604, 23197161, 27226619, 31215171"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYAB0MFM02"	"2023-11-30"
"GENCC_000106-HGNC_2389-OMIM_613763-HP_0000006-GENCC_100002"	"HGNC:2389"	"CRYAB"	"MONDO:0013411"	"cataract 16 multiple types"	"OMIM:613763"	"Cataract 16, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2389"	"CRYAB"	"OMIM:613763"	"cataract 16 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-07 14:14:52"	""	""	"19597569, 21087083, 23194663"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYAB0cataract"	"2023-11-30"
"GENCC_000106-HGNC_2418-OMIM_616357-HP_0000005-GENCC_100004"	"HGNC:2418"	"CRYM"	"MONDO:0014603"	"autosomal dominant nonsyndromic hearing loss 40"	"OMIM:616357"	"Deafness, autosomal dominant 40"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2418"	"CRYM"	"OMIM:616357"	"autosomal dominant nonsyndromic hearing loss 40"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 06:59:02"	""	""	"12471561, 16740909, 17264173, 28944914, 32742378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYM0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2433-OMIM_618476-HP_0000007-GENCC_100002"	"HGNC:2433"	"CSF1R"	"MONDO:0032772"	"brain abnormalities, neurodegeneration, and dysosteosclerosis"	"OMIM:618476"	"Brain abnormalities, neurodegeneration, and dysosteosclerosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2433"	"CSF1R"	"OMIM:618476"	"brain abnormalities, neurodegeneration, and dysosteosclerosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-25 17:17:47"	""	""	"11756160, 22046273, 30982609"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSF1R0BANDDOS"	"2023-11-30"
"GENCC_000106-HGNC_2436-OMIM_614370-HP_0000007-GENCC_100004"	"HGNC:2436"	"CSF2RB"	"MONDO:0013712"	"surfactant metabolism dysfunction, pulmonary, 5"	"OMIM:614370"	"Surfactant metabolism dysfunction, pulmonary, 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2436"	"CSF2RB"	"OMIM:614370"	"surfactant metabolism dysfunction, pulmonary, 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"21075760, 21205713, 30846703"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSF2RB0Surfacta"	"2023-11-30"
"GENCC_000106-HGNC_2472-OMIM_607482-HP_0000006-GENCC_100004"	"HGNC:2472"	"CSRP3"	"MONDO:0011840"	"dilated cardiomyopathy 1M"	"OMIM:607482"	"?Cardiomyopathy, dilated, 1M"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2472"	"CSRP3"	"OMIM:607482"	"dilated cardiomyopathy 1M"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-07 13:58:58"	""	""	"14567970, 19412328, 20474083, 24503780, 29886034"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSRP30DCM"	"2023-11-30"
"GENCC_000106-HGNC_2472-OMIM_612124-HP_0000006-GENCC_100002"	"HGNC:2472"	"CSRP3"	"MONDO:0012804"	"hypertrophic cardiomyopathy 12"	"OMIM:612124"	"Cardiomyopathy, hypertrophic, 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2472"	"CSRP3"	"OMIM:612124"	"hypertrophic cardiomyopathy 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 15:18:23"	""	""	"12642359, 14567970, 16352453, 18505755, 19412328, 20087448, 20474083, 34558151"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CSRP30HCM"	"2023-11-30"
"GENCC_000106-HGNC_2478-OMIM_618535-HP_0000007-GENCC_100002"	"HGNC:2478"	"CST6"	"MONDO:0032804"	"ectodermal dysplasia 15, hypohidrotic/hair type"	"OMIM:618535"	"?Ectodermal dysplasia 15, hypohidrotic/hair type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2478"	"CST6"	"OMIM:618535"	"ectodermal dysplasia 15, hypohidrotic/hair type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-17 01:01:13"	""	""	"30425301, 36371786"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CST60EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_6692-OMIM_604093-HP_0000005-GENCC_100004"	"HGNC:6692"	"LRP1"	"MONDO:0018855"	"keratosis pilaris atrophicans"	"OMIM:604093"	"?Keratosis pilaris atrophicans"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6692"	"LRP1"	"OMIM:604093"	"?Keratosis pilaris atrophicans"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"26142438"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP10LRP1keratosis"	"2023-11-30"
"GENCC_000106-HGNC_2509-OMIM_608970-HP_0000006-GENCC_100002"	"HGNC:2509"	"CTNNA1"	"MONDO:0012162"	"patterned macular dystrophy 2"	"OMIM:608970"	"Macular dystrophy, patterned, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2509"	"CTNNA1"	"OMIM:608970"	"patterned macular dystrophy 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-10 06:58:43"	""	""	"26691986, 28041643, 33137351"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTNNA10RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_2510-OMIM_618174-HP_0000007-GENCC_100002"	"HGNC:2510"	"CTNNA2"	"MONDO:0032578"	"cortical dysplasia, complex, with other brain malformations 9"	"OMIM:618174"	"Cortical dysplasia, complex, with other brain malformations 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2510"	"CTNNA2"	"OMIM:618174"	"cortical dysplasia, complex, with other brain malformations 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"24986827, 26700408, 28250917, 28600779, 29302074, 30013181"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTNNA20CTNNA2rel"	"2023-11-30"
"GENCC_000106-HGNC_2514-OMIM_617572-HP_0000006-GENCC_100002"	"HGNC:2514"	"CTNNB1"	"MONDO:0033123"	"exudative vitreoretinopathy 7"	"OMIM:617572"	"Exudative vitreoretinopathy 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2514"	"CTNNB1"	"OMIM:617572"	"exudative vitreoretinopathy 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-22 17:11:30"	""	""	"28575650, 30640974"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTNNB10ExudVitreoret"	"2023-11-30"
"GENCC_000106-HGNC_2514-OMIM_615075-HP_0000006-GENCC_100002"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"OMIM:615075"	"Neurodevelopmental disorder with spastic diplegia and visual defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2514"	"CTNNB1"	"OMIM:615075"	"severe intellectual disability-progressive spastic diplegia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-20 20:02:50"	""	""	"23033978, 24614104, 25326669, 26350204, 27915094, 36083290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTNNB10ID"	"2023-11-30"
"GENCC_000106-HGNC_2518-OMIM_219900-HP_0000007-GENCC_100002"	"HGNC:2518"	"CTNS"	"MONDO:0009066"	"juvenile nephropathic cystinosis"	"OMIM:219900"	"Cystinosis, late-onset juvenile or adolescent nephropathic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2518"	"CTNS"	"OMIM:219900"	"juvenile nephropathic cystinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:59:13"	""	""	"219750, 219800, 219900, 22903658, 27102039, 9537412"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTNS0Cystinosis"	"2023-11-30"
"GENCC_000106-HGNC_2523-OMIM_167800-HP_0000006-GENCC_100002"	"HGNC:2523"	"CTRC"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2523"	"CTRC"	"OMIM:167800"	"hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:04"	""	""	"190101, 22427236, 22942235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTRC0Pancreatitis"	"2023-11-30"
"GENCC_000106-HGNC_2528-OMIM_245010-HP_0000007-GENCC_100002"	"HGNC:2528"	"CTSC"	"MONDO:0009491"	"Haim-Munk syndrome"	"OMIM:245010"	"Haim-Munk syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2528"	"CTSC"	"OMIM:245010"	"Haim-Munk syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-20 13:49:59"	""	""	"10411926, 10662808, 11106356, 11279033, 11886537, 14966572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSC0CTSCSpecCondit"	"2023-11-30"
"GENCC_000106-HGNC_2528-OMIM_245010-HP_0000005-GENCC_100004"	"HGNC:2528"	"CTSC"	"MONDO:0009491"	"Haim-Munk syndrome"	"OMIM:245010"	"Haim-Munk syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2528"	"CTSC"	"OMIM:245010"	"Haim-Munk syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-20 13:49:59"	""	""	"10662807"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSC0HaimMunk"	"2023-11-30"
"GENCC_000106-HGNC_2528-OMIM_245000-HP_0000005-GENCC_100004"	"HGNC:2528"	"CTSC"	"MONDO:0009490"	"Papillon-Lefevre disease"	"OMIM:245000"	"Papillon-Lefevre syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2528"	"CTSC"	"OMIM:245000"	"Papillon-Lefevre disease"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-15 10:14:08"	""	""	"11106356"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSC0Papillon"	"2023-11-30"
"GENCC_000106-HGNC_11048-OMIM_604715-HP_0000005-GENCC_100004"	"HGNC:11048"	"SLC6A2"	"MONDO:0011479"	"postural orthostatic tachycardia syndrome"	"OMIM:604715"	"?Orthostatic intolerance"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11048"	"SLC6A2"	"OMIM:604715"	"?Orthostatic intolerance"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"10684912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC6A20Orthosta"	"2023-11-30"
"GENCC_000106-HGNC_2531-OMIM_615362-HP_0000005-GENCC_100004"	"HGNC:2531"	"CTSF"	"MONDO:0014147"	"neuronal ceroid lipofuscinosis 13"	"OMIM:615362"	"Ceroid lipofuscinosis, neuronal, 13 (Kufs type)"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2531"	"CTSF"	"OMIM:615362"	"adult neuronal ceroid lipofuscinosis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-11 15:00:42"	""	""	"27668283"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTSF0FTD"	"2023-11-30"
"GENCC_000106-HGNC_17619-OMIM_605013-HP_0000005-GENCC_100004"	"HGNC:17619"	"NDE1"	"MONDO:0011504"	"NDE1-related microhydranencephaly"	"OMIM:605013"	"Microhydranencephaly"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17619"	"NDE1"	"OMIM:605013"	"Microhydranencephaly"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-27 17:16:38"	""	""	"10762554, 22526350"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDE10Microhydran"	"2023-11-30"
"GENCC_000106-HGNC_2548-OMIM_261100-HP_0000007-GENCC_100002"	"HGNC:2548"	"CUBN"	"MONDO:0100156"	"Imerslund-Grasbeck syndrome type 1"	"OMIM:261100"	"Imerslund-Grasbeck syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2548"	"CUBN"	"OMIM:261100"	"Imerslund-Grasbeck syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-17 11:59:05"	""	""	"10887099, 15024727, 22929189, 261100"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CUBN0MegaAnemia1"	"2023-11-30"
"GENCC_000106-HGNC_2553-OMIM_614496-HP_0000006-GENCC_100002"	"HGNC:2553"	"CUL3"	"MONDO:0013782"	"pseudohypoaldosteronism type 2E"	"OMIM:614496"	"Pseudohypoaldosteronism, type IIE"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2553"	"CUL3"	"OMIM:614496"	"pseudohypoaldosteronism type 2E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:26:41"	""	""	"22266938, 23689903, 25250572, 30058590"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CUL30Gordon's"	"2023-11-30"
"GENCC_000106-HGNC_2553-OMIM_619239-HP_0000006-GENCC_100002"	"HGNC:2553"	"CUL3"	"MONDO:0030994"	"neurodevelopmental disorder with or without autism or seizures"	"OMIM:619239"	"Neurodevelopmental disorder with or without autism or seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2553"	"CUL3"	"OMIM:619239"	"Neurodevelopmental disorder with or without autism or seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-10 21:48:11"	""	""	"32341456, 33097317, 33130828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CUL30Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_25613-OMIM_616127-HP_0000007-GENCC_100002"	"HGNC:25613"	"CWF19L1"	"MONDO:0014503"	"autosomal recessive spinocerebellar ataxia 17"	"OMIM:616127"	"Spinocerebellar ataxia, autosomal recessive 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25613"	"CWF19L1"	"OMIM:616127"	"autosomal recessive spinocerebellar ataxia 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 19:09:24"	""	""	"25361784, 26197978, 27016154"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CWF19L10SCAR"	"2023-11-30"
"GENCC_000106-HGNC_6027-OMIM_619407-HP_0000007-GENCC_100002"	"HGNC:6027"	"CXCR2"	"MONDO:0030374"	"WHIM syndrome 2"	"OMIM:619407"	"?WHIM syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6027"	"CXCR2"	"OMIM:619407"	"?WHIM syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 13:28:27"	""	""	"11714818, 24777453, 34854278, 8036519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CXCR20Neutropenia"	"2023-11-30"
"GENCC_000106-HGNC_2873-OMIM_250800-HP_0000007-GENCC_100002"	"HGNC:2873"	"CYB5R3"	"MONDO:0009606"	"methemoglobinemia due to deficiency of methemoglobin reductase"	"OMIM:250800"	"Methemoglobinemia, type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2873"	"CYB5R3"	"OMIM:250800"	"methemoglobinemia due to deficiency of methemoglobin reductase"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-02 08:42:18"	""	""	"15921385, 18318771, 7718898, 9266404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYB5R30Methemoglobinem"	"2023-11-30"
"GENCC_000106-HGNC_2578-OMIM_306400-HP_0001417-GENCC_100002"	"HGNC:2578"	"CYBB"	"MONDO:0010600"	"granulomatous disease, chronic, X-linked"	"OMIM:306400"	"Chronic granulomatous disease, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2578"	"CYBB"	"OMIM:306400"	"granulomatous disease, chronic, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-24 03:26:36"	""	""	"14697745, 15308575, 1719419, 20167518, 20729109, 2221966, 25188296, 26680691, 3965681, 8978275, 9585602"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYBB0ChronicGran"	"2023-11-30"
"GENCC_000106-HGNC_15718-OMIM_605389-HP_0000006-GENCC_100002"	"HGNC:15718"	"APCDD1"	"MONDO:0011549"	"hypotrichosis 1"	"OMIM:605389"	"Hypotrichosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15718"	"APCDD1"	"OMIM:605389"	"Hypotrichosis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:07"	""	""	"20393562, 22512811"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APCDD10Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_2579-OMIM_615453-HP_0000005-GENCC_100004"	"HGNC:2579"	"CYC1"	"MONDO:0014194"	"mitochondrial complex III deficiency nuclear type 6"	"OMIM:615453"	"Mitochondrial complex III deficiency, nuclear type 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2579"	"CYC1"	"OMIM:615453"	"mitochondrial complex III deficiency nuclear type 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 10:32:46"	""	""	"23910460, 27074787"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYC10MC3def"	"2023-11-30"
"GENCC_000106-HGNC_37-OMIM_608907-HP_0000005-GENCC_100004"	"HGNC:37"	"ABCA7"	"MONDO:0012153"	"Alzheimer disease 9"	"OMIM:608907"	"{Alzheimer disease 9, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:37"	"ABCA7"	"OMIM:608907"	"{Alzheimer disease 9, susceptibility to}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-08-29 10:38:13"	""	""	"104220, 23029339, 24878767, 25807283, 26101835, 26141617, 27066581, 28447221, 29181857, 29504051, 29782324, 30210277, 30911827, 30917570, 30924900, 31182772, 31381512, 31405128, 31410005, 32317127, 32844072"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCA70Alzheimer"	"2023-11-30"
"GENCC_000106-HGNC_2584-OMIM_605041-HP_0000006-GENCC_100002"	"HGNC:2584"	"CYLD"	"MONDO:0011512"	"Brooke-Spiegler syndrome"	"OMIM:605041"	"Brooke-Spiegler syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2584"	"CYLD"	"OMIM:605041"	"Brooke-Spiegler syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 13:04:49"	""	""	"19462465"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYLD0CYLDdef"	"2023-11-30"
"GENCC_000106-HGNC_2594-OMIM_613546-HP_0000007-GENCC_100002"	"HGNC:2594"	"CYP19A1"	"MONDO:0013301"	"aromatase deficiency"	"OMIM:613546"	"Aromatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2594"	"CYP19A1"	"OMIM:613546"	"aromatase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"10566648, 14602738, 17164303, 24485503, 25415177, 27086564, 27256151"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP19A10Aromatas"	"2023-11-30"
"GENCC_000106-HGNC_2597-OMIM_231300-HP_0000007-GENCC_100002"	"HGNC:2597"	"CYP1B1"	"MONDO:0009277"	"glaucoma 3A"	"OMIM:231300"	"Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2597"	"CYP1B1"	"OMIM:231300"	"glaucoma 3A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-31 19:16:43"	""	""	"10655546, 12372064, 1287821998, 16862072, 18385784, 19234632, 19643970, 22004014, 23218183, 24099281, 25527694, 25978063, 26681220, 30127590, 9097971, 9463332, 9497261"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP1B10Glaucoma"	"2023-11-30"
"GENCC_000106-HGNC_2637-OMIM_619073-HP_0000005-GENCC_100004"	"HGNC:2637"	"CYP3A4"	"MONDO:0033640"	"vitamin D-dependent rickets, type 3"	"OMIM:619073"	"Vitamin D-dependent rickets, type 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2637"	"CYP3A4"	"OMIM:619073"	"vitamin D-dependent rickets, type 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-19 11:28:37"	""	""	"29461981"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP3A40CYP3A4rel"	"2023-11-30"
"GENCC_000106-HGNC_2652-OMIM_613812-HP_0000007-GENCC_100002"	"HGNC:2652"	"CYP7B1"	"MONDO:0013439"	"congenital bile acid synthesis defect 3"	"OMIM:613812"	"Bile acid synthesis defect, congenital, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2652"	"CYP7B1"	"OMIM:613812"	"Bile acid synthesis defect, congenital, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"18252231, 18367963, 21541746, 21567895, 24117163, 24641183, 28039895, 30546280, 9802883"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CBAS3"	"2023-11-30"
"GENCC_000106-HGNC_2652-OMIM_270800-HP_0000007-GENCC_100002"	"HGNC:2652"	"CYP7B1"	"MONDO:0010047"	"hereditary spastic paraplegia 5A"	"OMIM:270800"	"Spastic paraplegia 5A, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2652"	"CYP7B1"	"OMIM:270800"	"hereditary spastic paraplegia 5A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:19:17"	""	""	"12874406, 14722615, 18252231, 19363635, 19439420, 23812641, 270800, 7987300, 9802883"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP7B10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_2661-OMIM_615945-HP_0000006-GENCC_100004"	"HGNC:2661"	"DAB1"	"MONDO:0014410"	"spinocerebellar ataxia type 37"	"OMIM:615945"	"Spinocerebellar ataxia 37"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2661"	"DAB1"	"OMIM:615945"	"Spinocerebellar ataxia 37"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-07 08:10:52"	""	""	"28686858, 29939198, 30588707"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DAB10SCA"	"2023-11-30"
"GENCC_000106-HGNC_17748-OMIM_617466-HP_0000005-GENCC_100004"	"HGNC:17748"	"DACT1"	"MONDO:0054582"	"Townes-Brocks syndrome 2"	"OMIM:617466"	"Townes-Brocks syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17748"	"DACT1"	"OMIM:617466"	"Townes-Brocks syndrome 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:27"	""	""	"28054444"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DACT10TownesBrock"	"2023-11-30"
"GENCC_000106-HGNC_2666-OMIM_616538-HP_0000007-GENCC_100002"	"HGNC:2666"	"DAG1"	"MONDO:0014683"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9"	"OMIM:616538"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2666"	"DAG1"	"OMIM:616538"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"10610181, 12140559, 1.58855E+15, 21296866, 21388311, 24052401, 24361964, 25503980, 25934851, 29134705, 29337005, 30450679, 32403337, 35082294, 9175728"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DAG10ADG"	"2023-11-30"
"GENCC_000106-HGNC_25536-OMIM_618910-HP_0000005-GENCC_100004"	"HGNC:25536"	"DALRD3"	"MONDO:0030054"	"developmental and epileptic encephalopathy, 86"	"OMIM:618910"	"?Developmental and epileptic encephalopathy 86"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25536"	"DALRD3"	"OMIM:618910"	"?Developmental and epileptic encephalopathy 86"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:58"	""	""	"32427860"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DALRD30Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_2678-OMIM_615281-HP_0000007-GENCC_100002"	"HGNC:2678"	"DARS1"	"MONDO:0014115"	"hypomyelination with brain stem and spinal cord involvement and leg spasticity"	"OMIM:615281"	"Hypomyelination with brainstem and spinal cord involvement and leg spasticity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2678"	"DARS1"	"OMIM:615281"	"hypomyelination with brain stem and spinal cord involvement and leg spasticity"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"23643384, 25527264"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DARS0Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_24891-OMIM_610100-HP_0000005-GENCC_100004"	"HGNC:24891"	"DCAF8"	"MONDO:0012411"	"giant axonal neuropathy 2"	"OMIM:610100"	"?Giant axonal neuropathy 2, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24891"	"DCAF8"	"OMIM:610100"	"giant axonal neuropathy 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-25 13:43:00"	""	""	"24500646"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCAF80?GiantAx"	"2023-11-30"
"GENCC_000106-HGNC_18141-OMIM_610212-HP_0000005-GENCC_100004"	"HGNC:18141"	"DCDC2"	"MONDO:0012442"	"autosomal recessive nonsyndromic hearing loss 66"	"OMIM:610212"	"?Deafness, autosomal recessive 66"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18141"	"DCDC2"	"OMIM:610212"	"autosomal recessive nonsyndromic hearing loss 66"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:50"	""	""	"16244493, 25601850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCDC20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_18141-OMIM_617394-HP_0000007-GENCC_100002"	"HGNC:18141"	"DCDC2"	"MONDO:0018816"	"isolated neonatal sclerosing cholangitis"	"OMIM:617394"	"Sclerosing cholangitis, neonatal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18141"	"DCDC2"	"OMIM:617394"	"Sclerosing cholangitis, neonatal"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-21 16:28:04"	""	""	"25557784, 27319779, 27469900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCDC20NSC"	"2023-11-30"
"GENCC_000106-HGNC_18141-OMIM_616217-HP_0000007-GENCC_100002"	"HGNC:18141"	"DCDC2"	"MONDO:0014537"	"nephronophthisis 19"	"OMIM:616217"	"Nephronophthisis 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18141"	"DCDC2"	"OMIM:616217"	"nephronophthisis 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-20 19:54:32"	""	""	"25557784, 27469900, 31821705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCDC20Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_17642-OMIM_602450-HP_0000007-GENCC_100002"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011225"	"severe combined immunodeficiency due to DCLRE1C deficiency"	"OMIM:602450"	"Severe combined immunodeficiency, Athabascan type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17642"	"DCLRE1C"	"OMIM:602450"	"severe combined immunodeficiency due to DCLRE1C deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-01 21:04:52"	""	""	"21664875, 26123418"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCLRE1C0SCID"	"2023-11-30"
"GENCC_000106-HGNC_2711-OMIM_105400-HP_0000006-GENCC_100002"	"HGNC:2711"	"DCTN1"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"OMIM:105400"	"{?Amyotrophic lateral sclerosis, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2711"	"DCTN1"	"OMIM:105400"	"amyotrophic lateral sclerosis type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-11 15:08:28"	""	""	"15326253, 23881933, 25109764, 25382069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCTN10ALS"	"2023-11-30"
"GENCC_000106-HGNC_2711-OMIM_607641-HP_0000006-GENCC_100002"	"HGNC:2711"	"DCTN1"	"MONDO:0011879"	"neuronopathy, distal hereditary motor, type 7B"	"OMIM:607641"	"Neuronopathy, distal hereditary motor, autosomal dominant 14"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2711"	"DCTN1"	"OMIM:607641"	"neuronopathy, distal hereditary motor, type 7B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-13 14:21:45"	""	""	"12627231, 21902652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCTN10HMN"	"2023-11-30"
"GENCC_000106-HGNC_2714-OMIM_300067-HP_0001417-GENCC_100002"	"HGNC:2714"	"DCX"	"MONDO:0010239"	"lissencephaly type 1 due to doublecortin gene mutation"	"OMIM:300067"	"Lissencephaly, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2714"	"DCX"	"OMIM:300067"	"lissencephaly type 1 due to doublecortin gene mutation"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-12 16:23:31"	""	""	"10441340, 11175293, 23365099, 9489700, 9618162, 9817918"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCX0Liss0SBH"	"2023-11-30"
"GENCC_000106-HGNC_9154-OMIM_605589-HP_0000007-GENCC_100002"	"HGNC:9154"	"PNKP"	"MONDO:0011570"	"Charcot-Marie-Tooth disease type 2B2"	"OMIM:605589"	"?Charcot-Marie-Tooth disease, type 2B2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9154"	"PNKP"	"OMIM:605589"	"?Charcot-Marie-Tooth disease, type 2B2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-09 11:21:33"	""	""	"30039206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNKP0CMT2B2"	"2023-11-30"
"GENCC_000106-HGNC_19714-OMIM_609340-HP_0000007-GENCC_100002"	"HGNC:19714"	"DDHD1"	"MONDO:0012256"	"hereditary spastic paraplegia 28"	"OMIM:609340"	"Spastic paraplegia 28, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19714"	"DDHD1"	"OMIM:609340"	"hereditary spastic paraplegia 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"23176821, 24989667, 26944165, 27216551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDHD10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_2731-OMIM_618175-HP_0000005-GENCC_100004"	"HGNC:2731"	"DDR2"	"MONDO:0032579"	"warburg-cinotti syndrome"	"OMIM:618175"	"Warburg-Cinotti syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2731"	"DDR2"	"OMIM:618175"	"warburg-cinotti syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-03-15 14:32:26"	""	""	"30449416"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDR20Warburg-Cinotti"	"2023-11-30"
"GENCC_000106-HGNC_8157-OMIM_605726-HP_0000007-GENCC_100002"	"HGNC:8157"	"SIGMAR1"	"MONDO:0011585"	"autosomal recessive distal spinal muscular atrophy 2"	"OMIM:605726"	"?Neuronopathy, distal hereditary motor, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8157"	"SIGMAR1"	"OMIM:605726"	"?Neuronopathy, distal hereditary motor, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-29 12:25:48"	""	""	"16669912, 2329048, 26078401, 27402882, 27629094, 28708278, 29115704"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIGMAR10SMA"	"2023-11-30"
"GENCC_000106-HGNC_2753-OMIM_616034-HP_0000005-GENCC_100004"	"HGNC:2753"	"DECR1"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"OMIM:616034"	"2,4-dienoyl-CoA reductase deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2753"	"DECR1"	"OMIM:616034"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"19578400, 2332510, 24847004"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DECR1024DCoA"	"2023-11-30"
"GENCC_000106-HGNC_19344-OMIM_617281-HP_0000007-GENCC_100002"	"HGNC:19344"	"DENND5A"	"MONDO:0015002"	"developmental and epileptic encephalopathy, 49"	"OMIM:617281"	"Developmental and epileptic encephalopathy 49"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19344"	"DENND5A"	"OMIM:617281"	"developmental and epileptic encephalopathy, 49"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"27431290, 27866705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DENND5A0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_2770-OMIM_604765-HP_0000006-GENCC_100002"	"HGNC:2770"	"DES"	"MONDO:0011482"	"dilated cardiomyopathy 1I"	"OMIM:604765"	"Cardiomyopathy, dilated, 1I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2770"	"DES"	"OMIM:604765"	"dilated cardiomyopathy 1I"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-04 16:41:28"	""	""	"10430757, 11728149, 17325244, 17626518, 20423733, 23300193, 24200904, 24503780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DES0DCM"	"2023-11-30"
"GENCC_000106-HGNC_2770-OMIM_601419-HP_0000006-GENCC_100002"	"HGNC:2770"	"DES"	"MONDO:0011076"	"myofibrillar myopathy 1"	"OMIM:601419"	"Myopathy, myofibrillar, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2770"	"DES"	"OMIM:601419"	"myofibrillar myopathy 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 09:06:48"	""	""	"10545598, 12609507, 17626518, 18563598, 19763525, 22403400, 23143191, 23300193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DES0MFM"	"2023-11-30"
"GENCC_000106-HGNC_17997-OMIM_606612-HP_0000007-GENCC_100002"	"HGNC:17997"	"FKRP"	"MONDO:0011688"	"muscular dystrophy-dystroglycanopathy type B5"	"OMIM:606612"	"Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17997"	"FKRP"	"OMIM:606612"	"Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:32:23"	""	""	"11592034, 12707425, 23591631"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FKRP0ADG"	"2023-11-30"
"GENCC_000106-HGNC_2810-OMIM_600994-HP_0000006-GENCC_100002"	"HGNC:2810"	"GSDME"	"MONDO:0010973"	"autosomal dominant nonsyndromic hearing loss 5"	"OMIM:600994"	"Deafness, autosomal dominant 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2810"	"GSDME"	"OMIM:600994"	"Deafness, autosomal dominant 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 13:58:21"	""	""	"12853124, 14559215, 15173223, 16023581, 17868390, 19911014, 24164807, 24506266, 250524, 251492, 29266521, 29849037"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DFNA50Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2858-OMIM_251880-HP_0000007-GENCC_100002"	"HGNC:2858"	"DGUOK"	"MONDO:0009636"	"mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"	"OMIM:251880"	"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2858"	"DGUOK"	"OMIM:251880"	"mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"11687800, 12205643, 14568816, 15964659, 16263314, 17073823, 18205204, 23043144, 30956829"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DGUOK0MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_20603-OMIM_613861-HP_0000007-GENCC_100004"	"HGNC:20603"	"DHDDS"	"MONDO:0013468"	"retinitis pigmentosa 59"	"OMIM:613861"	"Retinitis pigmentosa 59"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20603"	"DHDDS"	"OMIM:613861"	"retinitis pigmentosa 59"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-26 09:54:18"	""	""	"121402, 21295282, 21295283, 24664694, 27343064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHDDS0DHDDSCDG"	"2023-11-30"
"GENCC_000106-HGNC_17233-OMIM_606893-HP_0000007-GENCC_100002"	"HGNC:17233"	"ELMO2"	"MONDO:0011744"	"primary intraosseous venous malformation"	"OMIM:606893"	"Vascular malformation, primary intraosseous"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17233"	"ELMO2"	"OMIM:606893"	"Vascular malformation, primary intraosseous"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"27476657"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELMO20Vascular"	"2023-11-30"
"GENCC_000106-HGNC_15480-OMIM_609129-HP_0000005-GENCC_100004"	"HGNC:15480"	"DIAPH3"	"MONDO:0012196"	"autosomal dominant auditory neuropathy 1"	"OMIM:609129"	"Auditory neuropathy, autosomal dominant 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15480"	"DIAPH3"	"OMIM:609129"	"autosomal dominant auditory neuropathy 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-07 14:29:46"	""	""	"15675004, 19457867, 20624953, 23441200, 23562982, 242340, 27068579, 27626380, 27658576, 30896630, 33724713"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DIAPH30Auditory"	"2023-11-30"
"GENCC_000106-HGNC_2865-OMIM_607080-HP_0000007-GENCC_100002"	"HGNC:2865"	"DHH"	"MONDO:0011766"	"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"	"OMIM:607080"	"46XY gonadal dysgenesis with minifascicular neuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2865"	"DHH"	"OMIM:607080"	"46XY gonadal dysgenesis with minifascicular neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 11:55:26"	""	""	"10482238, 11017805, 15356051, 21242195, 21816240, 23786321, 25383892, 25927242, 27899157, 29471294, 7985023, 8805249"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DHH0GonadalDys"	"2023-11-30"
"GENCC_000106-HGNC_18884-OMIM_607250-HP_0000007-GENCC_100002"	"HGNC:18884"	"TDP1"	"MONDO:0011801"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"	"OMIM:607250"	"?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18884"	"TDP1"	"OMIM:607250"	"?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-05 11:45:29"	""	""	"12244316, 15920477, 17914460, 17948061, 19211312, 31182267"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TDP10SCAR"	"2023-11-30"
"GENCC_000106-HGNC_2911-OMIM_618475-HP_0000006-GENCC_100004"	"HGNC:2911"	"DLST"	"MONDO:0032771"	"paragangliomas 7"	"OMIM:618475"	"Pheochromocytoma/paraganglioma syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2911"	"DLST"	"OMIM:618475"	"paragangliomas 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-18 08:34:09"	""	""	"33180916"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLST0DLSTrelCanc"	"2023-11-30"
"GENCC_000106-HGNC_2916-OMIM_190320-HP_0000006-GENCC_100002"	"HGNC:2916"	"DLX3"	"MONDO:0008592"	"tricho-dento-osseous syndrome"	"OMIM:190320"	"Trichodontoosseous syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2916"	"DLX3"	"OMIM:190320"	"tricho-dento-osseous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 12:32:38"	""	""	"15666299, 18203197, 18492670, 20510228, 21252474, 21520071, 26104267, 27924851, 28135572, 9467018, 9874789"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLX30TDOSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_2918-OMIM_220600-HP_0000006-GENCC_100002"	"HGNC:2918"	"DLX5"	"MONDO:0009080"	"split hand-foot malformation 1 with sensorineural hearing loss"	"OMIM:220600"	"?Split-hand/foot malformation 1 with sensorineural hearing loss"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2918"	"DLX5"	"OMIM:220600"	"split hand-foot malformation 1 with sensorineural hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"22121204, 24496061, 25196357, 27085093, 31332306"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DLX50SplitHandFoot"	"2023-11-30"
"GENCC_000106-HGNC_2928-OMIM_310200-HP_0001417-GENCC_100002"	"HGNC:2928"	"DMD"	"MONDO:0010679"	"Duchenne muscular dystrophy"	"OMIM:310200"	"Duchenne muscular dystrophy"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2928"	"DMD"	"OMIM:310200"	"Duchenne muscular dystrophy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-26 15:18:23"	""	""	"16770791, 19367636, 25007885"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DMD0DuchenneBecker"	"2023-11-30"
"GENCC_000106-HGNC_2938-OMIM_616113-HP_0000005-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0014497"	"polyendocrine-polyneuropathy syndrome"	"OMIM:616113"	"?Polyendocrine-polyneuropathy syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2938"	"DMXL2"	"OMIM:616113"	"polyendocrine-polyneuropathy syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:23"	""	""	"25248098, 51773461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DMXL20?Polyend"	"2023-11-30"
"GENCC_000106-HGNC_2938-OMIM_617605-HP_0000005-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0033258"	"hearing loss, autosomal dominant 71"	"OMIM:617605"	"?Deafness, autosomal dominant 71"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2938"	"DMXL2"	"OMIM:617605"	"hearing loss, autosomal dominant 71"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-11 14:14:37"	""	""	"27657680"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DMXL20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2938-OMIM_618663-HP_0000007-GENCC_100002"	"HGNC:2938"	"DMXL2"	"MONDO:0032858"	"developmental and epileptic encephalopathy, 81"	"OMIM:618663"	"Developmental and epileptic encephalopathy 81"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2938"	"DMXL2"	"OMIM:618663"	"developmental and epileptic encephalopathy, 81"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"30237576, 31688942"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DMXL20Ohtahara"	"2023-11-30"
"GENCC_000106-HGNC_30539-OMIM_613193-HP_0000007-GENCC_100002"	"HGNC:30539"	"DNAAF1"	"MONDO:0013174"	"primary ciliary dyskinesia 13"	"OMIM:613193"	"Ciliary dyskinesia, primary, 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30539"	"DNAAF1"	"OMIM:613193"	"primary ciliary dyskinesia 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"19944400, 19944405, 29228333"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAAF10PCD"	"2023-11-30"
"GENCC_000106-HGNC_2940-OMIM_617576-HP_0000007-GENCC_100002"	"HGNC:2940"	"DNAH1"	"MONDO:0054615"	"spermatogenic failure 18"	"OMIM:617576"	"Spermatogenic failure 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2940"	"DNAH1"	"OMIM:617576"	"Spermatogenic failure 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-24 22:36:42"	""	""	"11371505, 27573432, 27798045"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAH10MMAF"	"2023-11-30"
"GENCC_000106-HGNC_2940-OMIM_617577-HP_0000007-GENCC_100002"	"HGNC:2940"	"DNAH1"	"MONDO:0033204"	"ciliary dyskinesia, primary, 37"	"OMIM:617577"	"Ciliary dyskinesia, primary, 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2940"	"DNAH1"	"OMIM:617577"	"ciliary dyskinesia, primary, 37"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 08:39:45"	""	""	"11371505, 24360805, 25927852, 31213628, 31507630, 31765523"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAH10PCD"	"2023-11-30"
"GENCC_000106-HGNC_18661-OMIM_620356-HP_0000007-GENCC_100004"	"HGNC:18661"	"DNAH7"	"MONDO:0957252"	"ciliary dyskinesia, primary, 50"	"OMIM:620356"	"Ciliary dyskinesia, primary, 50"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18661"	"DNAH7"	"OMIM:620356"	"Ciliary dyskinesia, primary, 50"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-29 20:56:29"	""	""	"34476482, 35543642"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAH70PCD"	"2023-11-30"
"GENCC_000106-HGNC_2952-OMIM_619095-HP_0000007-GENCC_100002"	"HGNC:2952"	"DNAH8"	"MONDO:0033673"	"spermatogenic failure 46"	"OMIM:619095"	"Spermatogenic failure 46"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2952"	"DNAH8"	"OMIM:619095"	"Spermatogenic failure 46"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:50:09"	""	""	"32619401, 32681648"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAH80MMAF"	"2023-11-30"
"GENCC_000106-HGNC_2953-OMIM_618300-HP_0000007-GENCC_100002"	"HGNC:2953"	"DNAH9"	"MONDO:0032664"	"ciliary dyskinesia, primary, 40"	"OMIM:618300"	"Ciliary dyskinesia, primary, 40"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2953"	"DNAH9"	"OMIM:618300"	"ciliary dyskinesia, primary, 40"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-02 10:23:34"	""	""	"30471717, 30471718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAH90PCD"	"2023-11-30"
"GENCC_000106-HGNC_14886-OMIM_620326-HP_0000007-GENCC_100002"	"HGNC:14886"	"DNAJB4"	"MONDO:0957224"	"congenital myopathy 21 with early respiratory failure"	"OMIM:620326"	"Congenital myopathy 21 with early respiratory failure"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14886"	"DNAJB4"	"OMIM:620326"	"Congenital myopathy 21 with early respiratory failure"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-18 20:59:40"	""	""	"36264506"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJB40MyopRF"	"2023-11-30"
"GENCC_000106-HGNC_9439-OMIM_616192-HP_0000007-GENCC_100002"	"HGNC:9439"	"DNAJC3"	"MONDO:0014523"	"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"OMIM:616192"	"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9439"	"DNAJC3"	"OMIM:616192"	"juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 07:58:56"	""	""	"15793246, 25466870"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJC30ACPHD"	"2023-11-30"
"GENCC_000106-HGNC_16410-OMIM_619382-HP_0000007-GENCC_100002"	"HGNC:16410"	"DNAJC30"	"MONDO:0030309"	"Leber hereditary optic neuropathy, autosomal recessive"	"OMIM:619382"	"Leber-like hereditary optic neuropathy, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16410"	"DNAJC30"	"OMIM:619382"	"Leber hereditary optic neuropathy, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-23 22:16:10"	""	""	"33465056"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAJC300LHON"	"2023-11-30"
"GENCC_000106-HGNC_35126-OMIM_607539-HP_0000007-GENCC_100004"	"HGNC:35126"	"BHLHA9"	"MONDO:0011853"	"Camptosynpolydactyly, complex"	"OMIM:607539"	"?Camptosynpolydactyly, complex"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:35126"	"BHLHA9"	"OMIM:607539"	"?Camptosynpolydactyly, complex"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:49"	""	""	"27041388"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BHLHA90?Camptos"	"2023-11-30"
"GENCC_000106-HGNC_14353-OMIM_620354-HP_0000005-GENCC_100004"	"HGNC:14353"	"DNALI1"	"MONDO:0957250"	"spermatogenic failure 83"	"OMIM:620354"	"Spermatogenic failure 83"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14353"	"DNALI1"	"OMIM:620354"	"?Spermatogenic failure 83"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-30 16:21:31"	""	""	"23891469, 36726469"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNALI10DNALI1rel"	"2023-11-30"
"GENCC_000106-HGNC_6294-OMIM_607554-HP_0000006-GENCC_100002"	"HGNC:6294"	"KCNQ1"	"MONDO:0011857"	"atrial fibrillation, familial, 3"	"OMIM:607554"	"Atrial fibrillation, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6294"	"KCNQ1"	"OMIM:607554"	"Atrial fibrillation, familial, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 08:11:17"	""	""	"19632626"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ10Afib"	"2023-11-30"
"GENCC_000106-HGNC_2995-OMIM_608093-HP_0000007-GENCC_100002"	"HGNC:2995"	"DPAGT1"	"MONDO:0011964"	"DPAGT1-congenital disorder of glycosylation"	"OMIM:608093"	"Congenital disorder of glycosylation, type Ij"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2995"	"DPAGT1"	"OMIM:608093"	"Congenital disorder of glycosylation, type Ij"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"12872255, 22304930, 22742743"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPAGT10DPAGT1CDG"	"2023-11-30"
"GENCC_000106-HGNC_9802-OMIM_608203-HP_0000006-GENCC_100002"	"HGNC:9802"	"RAC2"	"MONDO:0011988"	"neutrophil immunodeficiency syndrome"	"OMIM:608203"	"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9802"	"RAC2"	"OMIM:608203"	"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-07 14:02:09"	""	""	"10758162, 10961859, 11278678, 12468931, 21167572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAC20Rac2def"	"2023-11-30"
"GENCC_000106-HGNC_2973-OMIM_614388-HP_0000006-GENCC_100002"	"HGNC:2973"	"DNM1L"	"MONDO:0013726"	"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"OMIM:614388"	"Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2973"	"DNM1L"	"OMIM:614388"	"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:41:29"	""	""	"17460227, 20696759, 26604000, 26931468, 26992161, 27145208, 30801875, 30850373"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNM1L0Encephalopathy"	"2023-11-30"
"GENCC_000106-HGNC_2974-OMIM_606482-HP_0000006-GENCC_100002"	"HGNC:2974"	"DNM2"	"MONDO:0011674"	"Charcot-Marie-Tooth disease dominant intermediate B"	"OMIM:606482"	"Charcot-Marie-Tooth disease, dominant intermediate B"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2974"	"DNM2"	"OMIM:606482"	"Charcot-Marie-Tooth disease dominant intermediate B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 13:16:11"	""	""	"11533912, 15731758, 16775378, 19502294, 22091729, 22396310, 22451505, 602378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNM20CMT"	"2023-11-30"
"GENCC_000106-HGNC_2974-OMIM_160150-HP_0000006-GENCC_100002"	"HGNC:2974"	"DNM2"	"MONDO:0008048"	"autosomal dominant centronuclear myopathy"	"OMIM:160150"	"Centronuclear myopathy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2974"	"DNM2"	"OMIM:160150"	"autosomal dominant centronuclear myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-09 07:32:11"	""	""	"16227997, 20529869, 22396310"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNM20CNM"	"2023-11-30"
"GENCC_000106-HGNC_10591-OMIM_608390-HP_0000006-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0018959"	"potassium-aggravated myotonia"	"OMIM:608390"	"Myotonia congenita, atypical, acetazolamide-responsive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10591"	"SCN4A"	"OMIM:608390"	"Myotonia congenita, atypical, acetazolamide-responsive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:59:48"	""	""	"31609695, 31732390, 32117035"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN4A0CM02"	"2023-11-30"
"GENCC_000106-HGNC_2976-OMIM_614116-HP_0000006-GENCC_100002"	"HGNC:2976"	"DNMT1"	"MONDO:0013584"	"hereditary sensory neuropathy-deafness-dementia syndrome"	"OMIM:614116"	"Neuropathy, hereditary sensory, type IE"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2976"	"DNMT1"	"OMIM:614116"	"hereditary sensory neuropathy-deafness-dementia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-12 09:25:35"	""	""	"21532572, 25678562, 481515"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNMT10HSAN"	"2023-11-30"
"GENCC_000106-HGNC_19191-OMIM_243700-HP_0000007-GENCC_100002"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"OMIM:243700"	"Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19191"	"DOCK8"	"OMIM:243700"	"combined immunodeficiency due to DOCK8 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-23 22:20:08"	""	""	"14722525, 1977640, 19776401, 22476911, 23929855, 25724123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DOCK80HyperIgEinf"	"2023-11-30"
"GENCC_000106-HGNC_26594-OMIM_254300-HP_0000007-GENCC_100002"	"HGNC:26594"	"DOK7"	"MONDO:0009690"	"congenital myasthenic syndrome 10"	"OMIM:254300"	"Myasthenic syndrome, congenital, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26594"	"DOK7"	"OMIM:254300"	"congenital myasthenic syndrome 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-31 00:29:30"	""	""	"16917026, 17439981, 18626973, 19261599"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DOK70CMS"	"2023-11-30"
"GENCC_000106-HGNC_26594-OMIM_618389-HP_0000007-GENCC_100002"	"HGNC:26594"	"DOK7"	"MONDO:0100103"	"fetal akinesia deformation sequence 3"	"OMIM:618389"	"Fetal akinesia deformation sequence 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26594"	"DOK7"	"OMIM:618389"	"fetal akinesia deformation sequence 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-07 15:51:50"	""	""	"16794080, 18626973, 19261599"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DOK70FADS"	"2023-11-30"
"GENCC_000106-HGNC_2993-OMIM_617604-HP_0000007-GENCC_100002"	"HGNC:2993"	"DONSON"	"MONDO:0060533"	"microcephaly, short stature, and limb abnormalities"	"OMIM:617604"	"Microcephaly, short stature, and limb abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2993"	"DONSON"	"OMIM:617604"	"microcephaly, short stature, and limb abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-20 13:54:43"	""	""	"28191891, 28630177, 31191207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DONSON0microdwarf"	"2023-11-30"
"GENCC_000106-HGNC_2995-OMIM_614750-HP_0000007-GENCC_100002"	"HGNC:2995"	"DPAGT1"	"MONDO:0013883"	"congenital myasthenic syndrome 13"	"OMIM:614750"	"Myasthenic syndrome, congenital, 13, with tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2995"	"DPAGT1"	"OMIM:614750"	"congenital myasthenic syndrome 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"12872255, 22742743, 24759841"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPAGT10CMS"	"2023-11-30"
"GENCC_000106-HGNC_17272-OMIM_608393-HP_0000007-GENCC_100002"	"HGNC:17272"	"CPAP"	"MONDO:0012029"	"microcephaly 6, primary, autosomal recessive"	"OMIM:608393"	"Microcephaly 6, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17272"	"CENPJ"	"OMIM:608393"	"Microcephaly 6, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 13:01:46"	""	""	"15793586, 16900296, 20522431, 23166506, 27124789, 29096039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CENPJ0Seckel"	"2023-11-30"
"GENCC_000106-HGNC_3007-OMIM_612937-HP_0000007-GENCC_100002"	"HGNC:3007"	"DPM3"	"MONDO:0013049"	"DPM3-congenital disorder of glycosylation"	"OMIM:612937"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3007"	"DPM3"	"OMIM:612937"	"DPM3-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:48"	""	""	"19576565, 28803818, 29246662, 30060766, 31266720, 35932216"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPM30CDG"	"2023-11-30"
"GENCC_000106-HGNC_3010-OMIM_616311-HP_0000005-GENCC_100004"	"HGNC:3010"	"DPP6"	"MONDO:0014580"	"intellectual disability, autosomal dominant 33"	"OMIM:616311"	"Intellectual developmental disorder, autosomal dominant 33"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3010"	"DPP6"	"OMIM:616311"	"intellectual disability, autosomal dominant 33"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"23832105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPP60ID"	"2023-11-30"
"GENCC_000106-HGNC_30171-OMIM_608673-HP_0000006-GENCC_100002"	"HGNC:30171"	"HSPB8"	"MONDO:0012096"	"Charcot-Marie-Tooth disease axonal type 2L"	"OMIM:608673"	"Charcot-Marie-Tooth disease, axonal, type 2L"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30171"	"HSPB8"	"OMIM:608673"	"Charcot-Marie-Tooth disease, axonal, type 2L"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"15021985, 15122253, 15565283, 20157854, 20538880, 21983727, 21985219, 8817349"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPB80CMT"	"2023-11-30"
"GENCC_000106-HGNC_3048-OMIM_615508-HP_0000007-GENCC_100002"	"HGNC:3048"	"DSG1"	"MONDO:0014218"	"severe dermatitis-multiple allergies-metabolic wasting syndrome"	"OMIM:615508"	"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3048"	"DSG1"	"OMIM:615508"	"severe dermatitis-multiple allergies-metabolic wasting syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-03 09:10:35"	""	""	"11122035, 23974871, 25041099, 29604126, 30943110, 34657339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSG10Erythrod"	"2023-11-30"
"GENCC_000106-HGNC_6638-OMIM_608709-HP_0000006-GENCC_100004"	"HGNC:6638"	"LMNB2"	"MONDO:0100476"	"lipodystrophy, partial, acquired, susceptibility to"	"OMIM:608709"	"{Lipodystrophy, partial, acquired, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6638"	"LMNB2"	"OMIM:608709"	"{Lipodystrophy, partial, acquired, susceptibility to}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-11-21 21:31:11"	""	""	"16826530, 22768673, 22995991, 28641778, 35011612"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNB20Lipodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_3052-OMIM_607450-HP_0000006-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0011831"	"arrhythmogenic right ventricular dysplasia 8"	"OMIM:607450"	"Arrhythmogenic right ventricular dysplasia 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3052"	"DSP"	"OMIM:607450"	"Arrhythmogenic right ventricular dysplasia 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-30 03:23:26"	""	""	"15941723, 16061754, 16917092, 20716751, 22527912, 23500315, 24503780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSP0ARVDC"	"2023-11-30"
"GENCC_000106-HGNC_3052-OMIM_605676-HP_0000007-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"OMIM:605676"	"Cardiomyopathy, dilated, with woolly hair and keratoderma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3052"	"DSP"	"OMIM:605676"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-05 17:01:19"	""	""	"25227139"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSP0Carvajal"	"2023-11-30"
"GENCC_000106-HGNC_3052-OMIM_615821-HP_0000006-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0014355"	"cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis"	"OMIM:615821"	"Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3052"	"DSP"	"OMIM:615821"	"cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-18 09:54:49"	""	""	"16628197, 20940358, 22795705, 22949226"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSP0Carvajal02"	"2023-11-30"
"GENCC_000106-HGNC_3052-OMIM_609638-HP_0000007-GENCC_100002"	"HGNC:3052"	"DSP"	"MONDO:0012323"	"lethal acantholytic epidermolysis bullosa"	"OMIM:609638"	"Epidermolysis bullosa, lethal acantholytic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3052"	"DSP"	"OMIM:609638"	"lethal acantholytic epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"11781569, 16175511, 20302578, 20613772, 28442525, 9864371"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSP0EpiBull0lethal"	"2023-11-30"
"GENCC_000106-HGNC_3054-OMIM_605594-HP_0000005-GENCC_100004"	"HGNC:3054"	"DSPP"	"MONDO:0011571"	"deafness, autosomal dominant 39, with dentinogenesis imperfecta 1"	"OMIM:605594"	"Deafness, autosomal dominant 39, with dentinogenesis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3054"	"DSPP"	"OMIM:605594"	"deafness, autosomal dominant 39, with dentinogenesis imperfecta 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-06 10:13:32"	""	""	"11175790, 25342930, 29741433, 30682115, 30896630, 5342930, 88536899, 88536901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSPP0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_3054-OMIM_125500-HP_0000006-GENCC_100002"	"HGNC:3054"	"DSPP"	"MONDO:0007442"	"dentinogenesis imperfecta type 3"	"OMIM:125500"	"Dentinogenesis imperfecta, Shields type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3054"	"DSPP"	"OMIM:125500"	"Dentinogenesis imperfecta, Shields type III"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 12:44:04"	""	""	"11175779, 11175790, 12721295, 15592686, 20949630, 21736673, 22310900, 25118030, 30302137, 30393383"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSPP0DentinogenImp"	"2023-11-30"
"GENCC_000106-HGNC_1090-OMIM_615425-HP_0000007-GENCC_100002"	"HGNC:1090"	"DST"	"MONDO:0014180"	"epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"	"OMIM:615425"	"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1090"	"DST"	"OMIM:615425"	"epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 10:41:17"	""	""	"20164846, 22113475, 25059916, 28558912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DST0EBSB2"	"2023-11-30"
"GENCC_000106-HGNC_1090-OMIM_614653-HP_0000007-GENCC_100002"	"HGNC:1090"	"DST"	"MONDO:0013839"	"hereditary sensory and autonomic neuropathy type 6"	"OMIM:614653"	"Neuropathy, hereditary sensory and autonomic, type VI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1090"	"DST"	"OMIM:614653"	"hereditary sensory and autonomic neuropathy type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-19 18:40:52"	""	""	"208618, 22522446, 26479498, 28468842, 28767192, 30371979, 32042917"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DST0HSAN"	"2023-11-30"
"GENCC_000106-HGNC_3061-OMIM_619847-HP_0000007-GENCC_100002"	"HGNC:3061"	"DTYMK"	"MONDO:0859241"	"neurodegeneration, childhood-onset, with progressive microcephaly"	"OMIM:619847"	"Neurodegeneration, childhood-onset, with progressive microcephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3061"	"DTYMK"	"OMIM:619847"	"Neurodegeneration, childhood-onset, with progressive microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-25 17:18:40"	""	""	"31271740, 34918187"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DTYMK0DTYMKrel"	"2023-11-30"
"GENCC_000106-HGNC_13273-OMIM_607200-HP_0000007-GENCC_100002"	"HGNC:13273"	"DUOX2"	"MONDO:0011792"	"thyroid dyshormonogenesis 6"	"OMIM:607200"	"Thyroid dyshormonogenesis 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13273"	"DUOX2"	"OMIM:607200"	"thyroid dyshormonogenesis 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 18:50:56"	""	""	"12110737, 16322276, 18765513, 24423310, 24735383, 26349762, 26742565"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DUOX20ThyroidDyshorm"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_608805-HP_0000006-GENCC_100002"	"HGNC:2200"	"COL2A1"	"MONDO:0054550"	"avascular necrosis of femoral head, primary, 1"	"OMIM:608805"	"Avascular necrosis of the femoral head"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:608805"	"Avascular necrosis of the femoral head"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-08 14:04:19"	""	""	"150600, 15930420, 17394019, 20204389, 21442341, 21671384, 24949742, 25050885, 29750297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10FemoralNecrosis"	"2023-11-30"
"GENCC_000106-HGNC_23399-OMIM_608980-HP_0000007-GENCC_100002"	"HGNC:23399"	"FREM1"	"MONDO:0012165"	"BNAR syndrome"	"OMIM:608980"	"Bifid nose with or without anorectal and renal anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23399"	"FREM1"	"OMIM:608980"	"Bifid nose with or without anorectal and renal anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-17 09:28:46"	""	""	"19732862, 21507892, 23401257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FREM10BNAR"	"2023-11-30"
"GENCC_000106-HGNC_2961-OMIM_614563-HP_0000006-GENCC_100002"	"HGNC:2961"	"DYNC1H1"	"MONDO:0013805"	"intellectual disability, autosomal dominant 13"	"OMIM:614563"	"Cortical dysplasia, complex, with other brain malformations 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2961"	"DYNC1H1"	"OMIM:614563"	"intellectual disability, autosomal dominant 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-06 11:50:50"	""	""	"21076407, 22368300, 23603762, 26395554, 28196890, 29243232"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYNC1H10ID"	"2023-11-30"
"GENCC_000106-HGNC_2962-OMIM_613091-HP_0000007-GENCC_100002"	"HGNC:2962"	"DYNC2H1"	"MONDO:0013127"	"asphyxiating thoracic dystrophy 3"	"OMIM:613091"	"Short-rib thoracic dysplasia 3 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2962"	"DYNC2H1"	"OMIM:613091"	"asphyxiating thoracic dystrophy 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-03 14:18:36"	""	""	"23339108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYNC2H10AsphyxThoracDys"	"2023-11-30"
"GENCC_000106-HGNC_24595-OMIM_617088-HP_0000007-GENCC_100002"	"HGNC:24595"	"DYNC2LI1"	"MONDO:0014907"	"short-rib thoracic dysplasia 15 with polydactyly"	"OMIM:617088"	"Short-rib thoracic dysplasia 15 with polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24595"	"DYNC2LI1"	"OMIM:617088"	"short-rib thoracic dysplasia 15 with polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-13 09:16:52"	""	""	"15371312, 26077881, 26130459, 28857138, 600725"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYNC2LI10ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_3097-OMIM_606768-HP_0000007-GENCC_100002"	"HGNC:3097"	"DYSF"	"MONDO:0011721"	"distal myopathy with anterior tibial onset"	"OMIM:606768"	"Myopathy, distal, with anterior tibial onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3097"	"DYSF"	"OMIM:606768"	"Myopathy, distal, with anterior tibial onset"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-23 10:37:50"	""	""	"17698709, 25591676"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYSF0DistalMyop"	"2023-11-30"
"GENCC_000106-HGNC_3097-OMIM_253601-HP_0000007-GENCC_100002"	"HGNC:3097"	"DYSF"	"MONDO:0009676"	"autosomal recessive limb-girdle muscular dystrophy type 2B"	"OMIM:253601"	"Muscular dystrophy, limb-girdle, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3097"	"DYSF"	"OMIM:253601"	"Muscular dystrophy, limb-girdle, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-29 12:02:16"	""	""	"20301480"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYSF0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_3157-OMIM_305100-HP_0001417-GENCC_100002"	"HGNC:3157"	"EDA"	"MONDO:0010585"	"X-linked hypohidrotic ectodermal dysplasia"	"OMIM:305100"	"Ectodermal dysplasia 1, hypohidrotic, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3157"	"EDA"	"OMIM:305100"	"X-linked hypohidrotic ectodermal dysplasia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-05 16:59:03"	""	""	"11378824, 11416205, 8696334, 9371801, 9683615, 9736768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDA0EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_3157-OMIM_313500-HP_0001417-GENCC_100002"	"HGNC:3157"	"EDA"	"MONDO:0010741"	"tooth agenesis, selective, X-linked, 1"	"OMIM:313500"	"Tooth agenesis, selective, X-linked 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3157"	"EDA"	"OMIM:313500"	"tooth agenesis, selective, X-linked, 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 13:26:19"	""	""	"16583127, 17256800, 18657636, 18688569, 19278982, 19623212, 24487376, 26411740, 26753551, 9683615"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDA0ToothAgen"	"2023-11-30"
"GENCC_000106-HGNC_2895-OMIM_129490-HP_0000006-GENCC_100002"	"HGNC:2895"	"EDAR"	"MONDO:0007509"	"ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	"OMIM:129490"	"Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2895"	"EDAR"	"OMIM:129490"	"Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-17 08:21:19"	""	""	"10431241, 10431242, 11035039, 15013427, 17125505, 31245878"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDAR0EctodermDys02"	"2023-11-30"
"GENCC_000106-HGNC_16787-OMIM_619493-HP_0000007-GENCC_100002"	"HGNC:16787"	"EDEM3"	"MONDO:0030423"	"congenital disorder of glycosylation, type 2v"	"OMIM:619493"	"Congenital disorder of glycosylation, type IIv"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16787"	"EDEM3"	"OMIM:619493"	"congenital disorder of glycosylation, type 2v"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:54:44"	""	""	"17499246, 27920155, 34143952"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDEM30EDEM3rel"	"2023-11-30"
"GENCC_000106-HGNC_3176-OMIM_612798-HP_0000006-GENCC_100004"	"HGNC:3176"	"EDN1"	"MONDO:0013013"	"question mark ears, isolated"	"OMIM:612798"	"Question mark ears, isolated"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3176"	"EDN1"	"OMIM:612798"	"question mark ears, isolated"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-11 10:08:35"	""	""	"24268655, 8152482"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDN10Question"	"2023-11-30"
"GENCC_000106-HGNC_3178-OMIM_613712-HP_0000005-GENCC_100004"	"HGNC:3178"	"EDN3"	"MONDO:0013384"	"Hirschsprung disease, susceptibility to, 4"	"OMIM:613712"	"{Hirschsprung disease, susceptibility to, 4}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3178"	"EDN3"	"OMIM:613712"	"Hirschsprung disease, susceptibility to, 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 12:23:24"	""	""	"10231870, 11303518, 19556619, 20009762, 613712, 8630502, 9587491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDN30Hirschsprung"	"2023-11-30"
"GENCC_000106-HGNC_3178-OMIM_613265-HP_0000006-GENCC_100004"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"OMIM:613265"	"Waardenburg syndrome, type 4B"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3178"	"EDN3"	"OMIM:613265"	"Waardenburg syndrome type 4B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-26 14:52:17"	""	""	"11303518, 19764030, 8630503"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDN30Waardenburg02"	"2023-11-30"
"GENCC_000106-HGNC_3214-OMIM_609306-HP_0000006-GENCC_100002"	"HGNC:3214"	"EEF2"	"MONDO:0012246"	"spinocerebellar ataxia type 26"	"OMIM:609306"	"?Spinocerebellar ataxia 26"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3214"	"EEF2"	"OMIM:609306"	"?Spinocerebellar ataxia 26"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-18 10:58:14"	""	""	"15732118, 23001565"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EEF20SCAR"	"2023-11-30"
"GENCC_000106-HGNC_3180-OMIM_277580-HP_0000007-GENCC_100002"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"OMIM:277580"	"Waardenburg syndrome, type 4A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3180"	"EDNRB"	"OMIM:277580"	"Waardenburg syndrome type 4A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:06"	""	""	"11891690, 20127975, 8001159"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EDNRB0Waardenburg"	"2023-11-30"
"GENCC_000106-HGNC_3192-OMIM_616409-HP_0000006-GENCC_100002"	"HGNC:3192"	"EEF1A2"	"MONDO:0014625"	"developmental and epileptic encephalopathy, 33"	"OMIM:616409"	"Developmental and epileptic encephalopathy 33"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3192"	"EEF1A2"	"OMIM:616409"	"developmental and epileptic encephalopathy, 33"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-03 15:00:38"	""	""	"23033978, 23647072, 24697219, 26682508, 27441201, 28378778, 32160274, 32196822, 7078649, 9539760"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EEF1A20EpilepEnceph"	"2023-11-30"
"GENCC_000106-HGNC_16406-OMIM_254770-HP_0000006-GENCC_100004"	"HGNC:16406"	"EFHC1"	"MONDO:0009696"	"juvenile myoclonic epilepsy"	"OMIM:254770"	"{Myoclonic epilepsy, juvenile, susceptibility to, 1}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16406"	"EFHC1"	"OMIM:254770"	"{Myoclonic epilepsy, juvenile, susceptibility to, 1}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 09:34:48"	""	""	"15258581, 17159113, 22926142, 25961944, 30311377, 31019026, 31056551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EFHC10JME"	"2023-11-30"
"GENCC_000106-HGNC_3229-OMIM_611718-HP_0000005-GENCC_100004"	"HGNC:3229"	"EGF"	"MONDO:0012717"	"renal hypomagnesemia 4"	"OMIM:611718"	"?Hypomagnesemia 4, renal"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3229"	"EGF"	"OMIM:611718"	"renal hypomagnesemia 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"131550, 17671655, 27234911"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EGF0Hypomagnesemia"	"2023-11-30"
"GENCC_000106-HGNC_3236-OMIM_616069-HP_0000007-GENCC_100002"	"HGNC:3236"	"EGFR"	"MONDO:0014481"	"inflammatory skin and bowel disease, neonatal, 2"	"OMIM:616069"	"Neonatal nephrocutaneous inflammatory syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3236"	"EGFR"	"OMIM:616069"	"inflammatory skin and bowel disease, neonatal, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"24691054, 246910541, 26436111, 28726809, 29899996, 32602142, 616069, 7630400"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EGFR0EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_1232-OMIM_609820-HP_0000006-GENCC_100002"	"HGNC:1232"	"EGLN1"	"MONDO:0012353"	"erythrocytosis, familial, 3"	"OMIM:609820"	"Erythrocytosis, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1232"	"EGLN1"	"OMIM:609820"	"erythrocytosis, familial, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 20:57:09"	""	""	"17933562, 21933857"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EGLN10FamErythr"	"2023-11-30"
"GENCC_000106-HGNC_3239-OMIM_607678-HP_0000006-GENCC_100002"	"HGNC:3239"	"EGR2"	"MONDO:0011890"	"Charcot-Marie-Tooth disease type 1D"	"OMIM:607678"	"Charcot-Marie-Tooth disease, type 1D"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3239"	"EGR2"	"OMIM:607678"	"Charcot-Marie-Tooth disease type 1D"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 15:59:38"	""	""	"10369870, 11394999, 11523566, 15947997, 16872830, 17717711, 18803322, 21840889, 9537424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EGR20CMT"	"2023-11-30"
"GENCC_000106-HGNC_24921-OMIM_618878-HP_0000005-GENCC_100004"	"HGNC:24921"	"EIF2AK1"	"MONDO:0030036"	"leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"	"OMIM:618878"	"?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24921"	"EIF2AK1"	"OMIM:618878"	"leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-22 13:17:31"	""	""	"25893121, 32197074"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2AK10EIF2AK1rel"	"2023-11-30"
"GENCC_000106-HGNC_9437-OMIM_618877-HP_0000006-GENCC_100002"	"HGNC:9437"	"EIF2AK2"	"MONDO:0030035"	"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"OMIM:618877"	"Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9437"	"EIF2AK2"	"OMIM:618877"	"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-17 16:09:04"	""	""	"25363768, 32197074, 33236446, 33553620, 33866603, 35146062, 35146068"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2AK20EIF2AK2rel"	"2023-11-30"
"GENCC_000106-HGNC_9437-OMIM_619687-HP_0000005-GENCC_100004"	"HGNC:9437"	"EIF2AK2"	"MONDO:0030513"	"dystonia 33"	"OMIM:619687"	"Dystonia 33"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9437"	"EIF2AK2"	"OMIM:619687"	"Dystonia 33"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-27 13:14:46"	""	""	"33236446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF2AK20EIF2AK2relAR"	"2023-11-30"
"GENCC_000106-HGNC_3275-OMIM_618295-HP_0000005-GENCC_100004"	"HGNC:3275"	"EIF3F"	"MONDO:0032662"	"intellectual developmental disorder, autosomal recessive 67"	"OMIM:618295"	"Intellectual developmental disorder, autosomal recessive 67"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3275"	"EIF3F"	"OMIM:618295"	"intellectual developmental disorder, autosomal recessive 67"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:12"	""	""	"30409806"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF3F0EIF3Frel"	"2023-11-30"
"GENCC_000106-HGNC_3287-OMIM_615091-HP_0000005-GENCC_100004"	"HGNC:3287"	"EIF4E"	"MONDO:0014041"	"autism, susceptibility to, 19"	"OMIM:615091"	"{Autism, susceptibility to, 19}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3287"	"EIF4E"	"OMIM:615091"	"{Autism, susceptibility to, 19}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-22 14:08:17"	""	""	"19556253"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF4E0{Autism,"	"2023-11-30"
"GENCC_000106-HGNC_3296-OMIM_614251-HP_0000005-GENCC_100004"	"HGNC:3296"	"EIF4G1"	"MONDO:0013653"	"Parkinson disease 18, autosomal dominant, susceptibility to"	"OMIM:614251"	"{Parkinson disease 18}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3296"	"EIF4G1"	"OMIM:614251"	"Parkinson disease 18, autosomal dominant, susceptibility to"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-02 09:48:19"	""	""	"21907011, 22561533, 22658323, 22707335, 23408866, 24082139, 25368108, 2602276, 26022768, 30502028, 30598256, 30833663, 31692161, 31737044, 32171587, 32707456, 32794657, 33818904, 34148545"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF4G10Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_1331-OMIM_609536-HP_0000007-GENCC_100002"	"HGNC:1331"	"C5"	"MONDO:0012295"	"complement component 5 deficiency"	"OMIM:609536"	"C5 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1331"	"C5"	"OMIM:609536"	"C5 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"19414197, 25132214, 27026170, 7730648"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C50TermCompDef"	"2023-11-30"
"GENCC_000106-HGNC_6294-OMIM_609621-HP_0000006-GENCC_100002"	"HGNC:6294"	"KCNQ1"	"MONDO:0012313"	"short QT syndrome type 2"	"OMIM:609621"	"Short QT syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6294"	"KCNQ1"	"OMIM:609621"	"Short QT syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 08:12:56"	""	""	"15159330, 16109388"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ10ShortQT"	"2023-11-30"
"GENCC_000106-HGNC_6263-OMIM_609622-HP_0000006-GENCC_100002"	"HGNC:6263"	"KCNJ2"	"MONDO:0012314"	"short QT syndrome type 3"	"OMIM:609622"	"Short QT syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6263"	"KCNJ2"	"OMIM:609622"	"Short QT syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 16:03:07"	""	""	"15761194, 17640933, 22155372, 22371365, 8078584"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ20ShortQT"	"2023-11-30"
"GENCC_000106-HGNC_3327-OMIM_123700-HP_0000006-GENCC_100002"	"HGNC:3327"	"ELN"	"MONDO:0007411"	"cutis laxa, autosomal dominant 1"	"OMIM:123700"	"Cutis laxa, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3327"	"ELN"	"OMIM:123700"	"cutis laxa, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 14:33:59"	""	""	"18348261, 21309044, 23442826, 28383366"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELN0CutisLaxa"	"2023-11-30"
"GENCC_000106-HGNC_3327-OMIM_185500-HP_0000006-GENCC_100002"	"HGNC:3327"	"ELN"	"MONDO:0008504"	"supravalvular aortic stenosis"	"OMIM:185500"	"Supravalvar aortic stenosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3327"	"ELN"	"OMIM:185500"	"supravalvular aortic stenosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-24 22:38:47"	""	""	"11175284, 19844261, 8364568"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELN0SyndStructHeart"	"2023-11-30"
"GENCC_000106-HGNC_14415-OMIM_614457-HP_0000007-GENCC_100002"	"HGNC:14415"	"ELOVL4"	"MONDO:0013760"	"congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"	"OMIM:614457"	"Ichthyosis, spastic quadriplegia, and impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14415"	"ELOVL4"	"OMIM:614457"	"congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 18:36:05"	""	""	"17208947, 17356513, 21429867, 22100072, 24571530, 28600779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELOVL40IchthSpastID"	"2023-11-30"
"GENCC_000106-HGNC_14415-OMIM_133190-HP_0000006-GENCC_100002"	"HGNC:14415"	"ELOVL4"	"MONDO:0007574"	"spinocerebellar ataxia type 34"	"OMIM:133190"	"Spinocerebellar ataxia 34"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14415"	"ELOVL4"	"OMIM:133190"	"spinocerebellar ataxia type 34"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"24566826, 26010696, 26258735, 30065956"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELOVL40SCAR"	"2023-11-30"
"GENCC_000106-HGNC_14415-OMIM_600110-HP_0000006-GENCC_100002"	"HGNC:14415"	"ELOVL4"	"MONDO:0010819"	"Stargardt disease 3"	"OMIM:600110"	"Stargardt disease 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14415"	"ELOVL4"	"OMIM:600110"	"Stargardt disease 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 17:57:16"	""	""	"10634627, 11138005, 11726641, 15028284, 15557430, 16036915, 16145543, 16163264, 17356513, 17983602, 23509295, 24833735, 25131622"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELOVL40StargardtDis"	"2023-11-30"
"GENCC_000106-HGNC_1171-OMIM_106210-HP_0000006-GENCC_100004"	"HGNC:1171"	"ELP4"	"MONDO:0024507"	"aniridia 1"	"OMIM:106210"	"Aniridia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1171"	"ELP4"	"OMIM:106210"	"aniridia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-16 14:47:34"	""	""	"17679951, 24290376, 26010655"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ELP40Aniridia"	"2023-11-30"
"GENCC_000106-HGNC_28957-OMIM_616875-HP_0000007-GENCC_100002"	"HGNC:28957"	"EMC1"	"MONDO:0014811"	"cerebellar atrophy, visual impairment, and psychomotor retardation;"	"OMIM:616875"	"Cerebellar atrophy, visual impairment, and psychomotor retardation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28957"	"EMC1"	"OMIM:616875"	"cerebellar atrophy, visual impairment, and psychomotor retardation;"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 20:28:44"	""	""	"23105016, 26572623, 26942288, 28327206, 29271071, 32092440"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EMC10EMC1rel"	"2023-11-30"
"GENCC_000106-HGNC_19880-OMIM_620080-HP_0000006-GENCC_100002"	"HGNC:19880"	"EMILIN1"	"MONDO:0859300"	"neuronopathy, distal hereditary motor, autosomal dominant 10"	"OMIM:620080"	"Neuronopathy, distal hereditary motor, autosomal dominant 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19880"	"EMILIN1"	"OMIM:620080"	"Neuronopathy, distal hereditary motor, autosomal dominant 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 08:23:40"	""	""	"26462740, 26920215, 31978608"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EMILIN10EMILIN1rel"	"2023-11-30"
"GENCC_000106-HGNC_3341-OMIM_269160-HP_0000005-GENCC_100004"	"HGNC:3341"	"EMX2"	"MONDO:0010011"	"schizencephaly"	"OMIM:269160"	"Schizencephaly"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3341"	"EMX2"	"OMIM:269160"	"schizencephaly"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-29 09:20:19"	""	""	"17506092, 18409201, 25577462, 8528262, 9153481, 9359037"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EMX20Schizenc"	"2023-11-30"
"GENCC_000106-HGNC_3342-OMIM_619217-HP_0000005-GENCC_100004"	"HGNC:3342"	"EN1"	"MONDO:0030978"	"ENDOVE syndrome, limb-only type"	"OMIM:619217"	"ENDOVE syndrome, limb-only type"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3342"	"EN1"	"OMIM:619217"	"ENDOVE syndrome, limb-only type"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-23 19:19:05"	""	""	"33568816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EN10EN1rel"	"2023-11-30"
"GENCC_000106-HGNC_3354-OMIM_612932-HP_0000007-GENCC_100002"	"HGNC:3354"	"ENO3"	"MONDO:0013046"	"glycogen storage disease due to muscle beta-enolase deficiency"	"OMIM:612932"	"Glycogen storage disease XIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3354"	"ENO3"	"OMIM:612932"	"glycogen storage disease due to muscle beta-enolase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"11506403, 120534, 121406, 18070103, 25267339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ENO30GSD"	"2023-11-30"
"GENCC_000106-HGNC_3356-OMIM_208000-HP_0000007-GENCC_100002"	"HGNC:3356"	"ENPP1"	"MONDO:0008817"	"arterial calcification, generalized, of infancy, 1"	"OMIM:208000"	"Arterial calcification, generalized, of infancy, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3356"	"ENPP1"	"OMIM:208000"	"arterial calcification, generalized, of infancy, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-02 18:02:54"	""	""	"12881724, 15605415, 16369898, 20016754, 20137773, 22209248, 22539483, 253403, 35482848"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ENPP10ArterialCalc"	"2023-11-30"
"GENCC_000106-HGNC_3356-OMIM_613312-HP_0000007-GENCC_100002"	"HGNC:3356"	"ENPP1"	"MONDO:0013219"	"hypophosphatemic rickets, autosomal recessive, 2"	"OMIM:613312"	"Hypophosphatemic rickets, autosomal recessive, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3356"	"ENPP1"	"OMIM:613312"	"Hypophosphatemic rickets, autosomal recessive, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-24 10:25:22"	""	""	"20137772, 20137773, 21745613, 22539483, 25741938"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ENPP10HypophosRicket"	"2023-11-30"
"GENCC_000106-HGNC_3373-OMIM_613684-HP_0000006-GENCC_100002"	"HGNC:3373"	"EP300"	"MONDO:0013364"	"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"	"OMIM:613684"	"Rubinstein-Taybi syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3373"	"EP300"	"OMIM:613684"	"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 04:10:02"	""	""	"15706485, 24476420, 25712426"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EP3000RubinstTaybi"	"2023-11-30"
"GENCC_000106-HGNC_3374-OMIM_611783-HP_0000006-GENCC_100002"	"HGNC:3374"	"EPAS1"	"MONDO:0012729"	"erythrocytosis, familial, 4"	"OMIM:611783"	"Erythrocytosis, familial, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3374"	"EPAS1"	"OMIM:611783"	"erythrocytosis, familial, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 12:10:42"	""	""	"18184961, 18508787, 22274579, 23640890, 24115288, 27292716"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPAS10FamErythr"	"2023-11-30"
"GENCC_000106-HGNC_3377-OMIM_611804-HP_0000006-GENCC_100002"	"HGNC:3377"	"EPB41"	"MONDO:0012731"	"elliptocytosis 1"	"OMIM:611804"	"Elliptocytosis-1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3377"	"EPB41"	"OMIM:611804"	"elliptocytosis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"1430200, 27551681, 27667160, 33942936, 6894932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPB410Elliptoc"	"2023-11-30"
"GENCC_000106-HGNC_8820-OMIM_610245-HP_0000006-GENCC_100002"	"HGNC:8820"	"PDYN"	"MONDO:0012449"	"spinocerebellar ataxia type 23"	"OMIM:610245"	"Spinocerebellar ataxia 23"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8820"	"PDYN"	"OMIM:610245"	"Spinocerebellar ataxia 23"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:31"	""	""	"21035104, 23471613, 25595316, 26169942"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDYN0SCAR"	"2023-11-30"
"GENCC_000106-HGNC_3393-OMIM_618462-HP_0000005-GENCC_100004"	"HGNC:3393"	"EPHB2"	"MONDO:0032765"	"bleeding disorder, platelet-type, 22"	"OMIM:618462"	"?Bleeding disorder, platelet-type, 22"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3393"	"EPHB2"	"OMIM:618462"	"?Bleeding disorder, platelet-type, 22"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:13"	""	""	"24828792, 26517685, 29179725, 30213874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPHB20EPHB2rel"	"2023-11-30"
"GENCC_000106-HGNC_3395-OMIM_618196-HP_0000006-GENCC_100002"	"HGNC:3395"	"EPHB4"	"MONDO:0020785"	"capillary malformation-arteriovenous malformation 2"	"OMIM:618196"	"Capillary malformation-arteriovenous malformation 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3395"	"EPHB4"	"OMIM:618196"	"capillary malformation-arteriovenous malformation 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-28 20:55:20"	""	""	"28687708, 28730721, 30578106"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPHB40CMAVM"	"2023-11-30"
"GENCC_000106-HGNC_3395-OMIM_617300-HP_0000006-GENCC_100002"	"HGNC:3395"	"EPHB4"	"MONDO:0015009"	"lymphatic malformation 7"	"OMIM:617300"	"Lymphatic malformation 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3395"	"EPHB4"	"OMIM:617300"	"lymphatic malformation 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 23:12:44"	""	""	"27400125, 29905864"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPHB40NIHF"	"2023-11-30"
"GENCC_000106-HGNC_3415-OMIM_617911-HP_0000005-GENCC_100004"	"HGNC:3415"	"EPO"	"MONDO:0060662"	"Diamond-Blackfan anemia-like"	"OMIM:617911"	"?Diamond-Blackfan anemia-like"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3415"	"EPO"	"OMIM:617911"	"?Diamond-Blackfan anemia-like"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:07"	""	""	"28283061"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPO0hypoanemia"	"2023-11-30"
"GENCC_000106-HGNC_3416-OMIM_133100-HP_0000006-GENCC_100002"	"HGNC:3416"	"EPOR"	"MONDO:0007572"	"primary familial polycythemia due to EPO receptor mutation"	"OMIM:133100"	"[Erythrocytosis, familial, 1]"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3416"	"EPOR"	"OMIM:133100"	"primary familial polycythemia due to EPO receptor mutation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 08:44:17"	""	""	"11158582, 20096014, 22274579, 7795221, 8506290, 8977232"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPOR0FamErythr"	"2023-11-30"
"GENCC_000106-HGNC_3418-OMIM_617951-HP_0000007-GENCC_100002"	"HGNC:3418"	"EPRS1"	"MONDO:0054782"	"leukodystrophy, hypomyelinating, 15"	"OMIM:617951"	"Leukodystrophy, hypomyelinating, 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3418"	"EPRS1"	"OMIM:617951"	"Leukodystrophy, hypomyelinating, 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"29576217"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPRS0EPRSrel"	"2023-11-30"
"GENCC_000106-HGNC_3424-OMIM_617565-HP_0000005-GENCC_100004"	"HGNC:3424"	"ERAL1"	"MONDO:0033047"	"Perrault syndrome 6"	"OMIM:617565"	"Perrault syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3424"	"ERAL1"	"OMIM:617565"	"Perrault syndrome 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:03"	""	""	"28449065"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERAL10Perrault"	"2023-11-30"
"GENCC_000106-HGNC_3430-OMIM_137800-HP_0000005-GENCC_100004"	"HGNC:3430"	"ERBB2"	"MONDO:0024498"	"glioma susceptibility 1"	"OMIM:137800"	"Glioblastoma, somatic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3430"	"ERBB2"	"OMIM:137800"	"{Glioma, susceptibility to, somatic}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-06-04 08:22:19"	""	""	"24317180, 24463507, 26094658, 28191890, 29752822, 29868112, 32295625"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERBB20ERBB2rel"	"2023-11-30"
"GENCC_000106-HGNC_3431-OMIM_607598-HP_0000007-GENCC_100002"	"HGNC:3431"	"ERBB3"	"MONDO:0011868"	"lethal congenital contracture syndrome 2"	"OMIM:607598"	"?Lethal congenital contractural syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3431"	"ERBB3"	"OMIM:607598"	"lethal congenital contracture syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 14:04:37"	""	""	"12548738, 17701904, 28454995, 9338783"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERBB30LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_3432-OMIM_615515-HP_0000006-GENCC_100002"	"HGNC:3432"	"ERBB4"	"MONDO:0014223"	"amyotrophic lateral sclerosis type 19"	"OMIM:615515"	"Amyotrophic lateral sclerosis 19"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3432"	"ERBB4"	"OMIM:615515"	"amyotrophic lateral sclerosis type 19"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-31 12:06:23"	""	""	"24119685, 28642336, 29650794, 7477376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERBB40ALS"	"2023-11-30"
"GENCC_000106-HGNC_3434-OMIM_601675-HP_0000007-GENCC_100002"	"HGNC:3434"	"ERCC2"	"MONDO:0011125"	"trichothiodystrophy 1, photosensitive"	"OMIM:601675"	"Trichothiodystrophy 1, photosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3434"	"ERCC2"	"OMIM:601675"	"trichothiodystrophy 1, photosensitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 22:45:35"	""	""	"11335038, 18603627, 19085937, 29451896, 9426063, 9651581"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC20TTD"	"2023-11-30"
"GENCC_000106-HGNC_3434-OMIM_278730-HP_0000007-GENCC_100002"	"HGNC:3434"	"ERCC2"	"MONDO:0010212"	"xeroderma pigmentosum group D"	"OMIM:278730"	"Xeroderma pigmentosum, group D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3434"	"ERCC2"	"OMIM:278730"	"xeroderma pigmentosum group D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"19934020, 24418926, 26884178, 9238033"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC20XP"	"2023-11-30"
"GENCC_000106-HGNC_3435-OMIM_616390-HP_0000007-GENCC_100004"	"HGNC:3435"	"ERCC3"	"MONDO:0014615"	"trichothiodystrophy 2, photosensitive"	"OMIM:616390"	"Trichothiodystrophy 2, photosensitive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3435"	"ERCC3"	"OMIM:616390"	"Trichothiodystrophy 2, photosensitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:56"	""	""	"10332046, 16947863, 25620205, 9012405"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC30TTD"	"2023-11-30"
"GENCC_000106-HGNC_3436-OMIM_615272-HP_0000007-GENCC_100002"	"HGNC:3436"	"ERCC4"	"MONDO:0014108"	"Fanconi anemia complementation group Q"	"OMIM:615272"	"Fanconi anemia, complementation group Q"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3436"	"ERCC4"	"OMIM:615272"	"Fanconi anemia complementation group Q"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"23623386, 9580660"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC40Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_3437-OMIM_616570-HP_0000007-GENCC_100002"	"HGNC:3437"	"ERCC5"	"MONDO:0014696"	"cerebrooculofacioskeletal syndrome 3"	"OMIM:616570"	"Cerebrooculofacioskeletal syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3437"	"ERCC5"	"OMIM:616570"	"cerebrooculofacioskeletal syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-01 11:29:03"	""	""	"17466625, 1748277, 23370563, 24700531, 29096039, 30221345, 9096355"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC50Cockayne"	"2023-11-30"
"GENCC_000106-HGNC_3437-OMIM_278780-HP_0000007-GENCC_100002"	"HGNC:3437"	"ERCC5"	"MONDO:0010216"	"xeroderma pigmentosum group G"	"OMIM:278780"	"Xeroderma pigmentosum, group G/Cockayne syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3437"	"ERCC5"	"OMIM:278780"	"xeroderma pigmentosum group G"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:51"	""	""	"11841555, 12060391, 23370536, 25256075, 26884178, 9096355"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC50XP"	"2023-11-30"
"GENCC_000106-HGNC_3438-OMIM_133540-HP_0000007-GENCC_100002"	"HGNC:3438"	"ERCC6"	"MONDO:0019570"	"Cockayne syndrome type 2"	"OMIM:133540"	"Cockayne syndrome, type B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3438"	"ERCC6"	"OMIM:133540"	"Cockayne syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-14 18:19:20"	""	""	"18185538, 18628313, 23428416, 29572252, 9443879"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC60Cockayne02"	"2023-11-30"
"GENCC_000106-HGNC_2592-OMIM_610600-HP_0000007-GENCC_100002"	"HGNC:2592"	"CYP11B2"	"MONDO:0012524"	"corticosterone methyloxidase type 2 deficiency"	"OMIM:610600"	"Hypoaldosteronism, congenital, due to CMO II deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2592"	"CYP11B2"	"OMIM:610600"	"Hypoaldosteronism, congenital, due to CMO II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-26 10:04:05"	""	""	"11238478, 1594605, 203400, 20494601, 22801770, 26936515, 610600, 8439335"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYP11B20Hypoaldost"	"2023-11-30"
"GENCC_000106-HGNC_3439-OMIM_216400-HP_0000007-GENCC_100002"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"OMIM:216400"	"Cockayne syndrome, type A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3439"	"ERCC8"	"OMIM:216400"	"Cockayne syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 09:22:09"	""	""	"14661080, 15744458, 16865293, 17084038, 19894250, 21108394, 23428416, 24781187, 29572252, 609412, 7664335, 9338586"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC80Cockayne"	"2023-11-30"
"GENCC_000106-HGNC_3444-OMIM_600775-HP_0000006-GENCC_100002"	"HGNC:3444"	"ERF"	"MONDO:0010929"	"craniosynostosis 4"	"OMIM:600775"	"Craniosynostosis 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3444"	"ERF"	"OMIM:600775"	"craniosynostosis 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-25 19:07:35"	""	""	"23354439, 26097063, 28808027, 30758909"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERF0Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_16947-OMIM_615681-HP_0000007-GENCC_100002"	"HGNC:16947"	"ERLIN1"	"MONDO:0014302"	"hereditary spastic paraplegia 62"	"OMIM:615681"	"Spastic paraplegia 62, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16947"	"ERLIN1"	"OMIM:615681"	"hereditary spastic paraplegia 62"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-28 15:24:16"	""	""	"24482476"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERLIN10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_21056-OMIM_615544-HP_0000005-GENCC_100004"	"HGNC:21056"	"ERMARD"	"MONDO:0014240"	"periventricular nodular heterotopia 6"	"OMIM:615544"	"?Periventricular nodular heterotopia 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21056"	"ERMARD"	"OMIM:615544"	"periventricular nodular heterotopia 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"24056535, 24736736, 26643481, 27087860, 30683929"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERMARD0?Periven"	"2023-11-30"
"GENCC_000106-HGNC_13281-OMIM_609006-HP_0000007-GENCC_100002"	"HGNC:13281"	"ESPN"	"MONDO:0012170"	"autosomal recessive nonsyndromic hearing loss 36"	"OMIM:609006"	"Deafness, autosomal recessive 36"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13281"	"ESPN"	"OMIM:609006"	"autosomal recessive nonsyndromic hearing loss 36"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"15286153, 15930085, 18973245"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ESPN0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_13281-OMIM_618632-HP_0000005-GENCC_100004"	"HGNC:13281"	"ESPN"	"MONDO:0032841"	"Usher syndrome, type 1M"	"OMIM:618632"	"?Usher syndrome, type 1M"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13281"	"ESPN"	"OMIM:618632"	"?Usher syndrome, type 1M"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-15 12:06:27"	""	""	"29572253"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ESPN0Usher"	"2023-11-30"
"GENCC_000106-HGNC_3468-OMIM_618187-HP_0000005-GENCC_100004"	"HGNC:3468"	"ESR2"	"MONDO:0032590"	"ovarian dysgenesis 8"	"OMIM:618187"	"?Ovarian dysgenesis 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3468"	"ESR2"	"OMIM:618187"	"ovarian dysgenesis 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-11-19 15:28:49"	""	""	"22737080, 23336950, 24463507, 26822949, 26945007, 282440, 29261182, 29582157, 30113650"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ESR20ESR2rel"	"2023-11-30"
"GENCC_000106-HGNC_25966-OMIM_618013-HP_0000005-GENCC_100004"	"HGNC:25966"	"ESRP1"	"MONDO:0033202"	"hearing loss, autosomal recessive 109"	"OMIM:618013"	"?Deafness, autosomal recessive 109"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25966"	"ESRP1"	"OMIM:618013"	"hearing loss, autosomal recessive 109"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:09"	""	""	"29107558"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ESRP10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_3497-OMIM_193530-HP_0000005-GENCC_100004"	"HGNC:3497"	"EVC"	"MONDO:0008673"	"acrofacial dysostosis, Weyers type"	"OMIM:193530"	"?Weyers acrofacial dysostosis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3497"	"EVC"	"OMIM:193530"	"acrofacial dysostosis, Weyers type"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-09 08:16:00"	""	""	"10700184, 17024374, 23220543, 29321360, 30076350, 7628126"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EVC0Weyes"	"2023-11-30"
"GENCC_000106-HGNC_24968-OMIM_619306-HP_0000005-GENCC_100004"	"HGNC:24968"	"EXOC2"	"MONDO:0859141"	"neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia"	"OMIM:619306"	"Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24968"	"EXOC2"	"OMIM:619306"	"Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-11 08:08:01"	""	""	"21700618, 23548203, 25261932, 28135719, 31981491, 32639540"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOC20EXOC2rel"	"2023-11-30"
"GENCC_000106-HGNC_17085-OMIM_618395-HP_0000007-GENCC_100002"	"HGNC:17085"	"EXOC6B"	"MONDO:0032724"	"spondyloepimetaphyseal dysplasia with joint laxity, type 3"	"OMIM:618395"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17085"	"EXOC6B"	"OMIM:618395"	"spondyloepimetaphyseal dysplasia with joint laxity, type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-27 13:20:03"	""	""	"26669664, 30284759"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOC6B0SEMDys"	"2023-11-30"
"GENCC_000106-HGNC_24659-OMIM_619076-HP_0000007-GENCC_100002"	"HGNC:24659"	"EXOC8"	"MONDO:0033662"	"neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"	"OMIM:619076"	"?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24659"	"EXOC8"	"OMIM:619076"	"neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-16 21:26:10"	""	""	"27626380, 32103185, 35460391"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOC80EXOC8rel"	"2023-11-30"
"GENCC_000106-HGNC_6698-OMIM_610947-HP_0000005-GENCC_100004"	"HGNC:6698"	"LRP6"	"MONDO:0012586"	"coronary artery disease, autosomal dominant 2"	"OMIM:610947"	"{Coronary artery disease, autosomal dominant, 2}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6698"	"LRP6"	"OMIM:610947"	"{Coronary artery disease, autosomal dominant, 2}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-10 12:48:45"	""	""	"17332414, 18948618, 21245321, 27455246"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP60{Coronar02"	"2023-11-30"
"GENCC_000106-HGNC_17035-OMIM_616081-HP_0000005-GENCC_100004"	"HGNC:17035"	"EXOSC8"	"MONDO:0014485"	"pontocerebellar hypoplasia, type 1C"	"OMIM:616081"	"Pontocerebellar hypoplasia, type 1C"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17035"	"EXOSC8"	"OMIM:616081"	"pontocerebellar hypoplasia, type 1C"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-20 09:33:13"	""	""	"24989451, 27457812, 29431110"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOSC80PCH"	"2023-11-30"
"GENCC_000106-HGNC_3518-OMIM_617425-HP_0000007-GENCC_100002"	"HGNC:3518"	"EXTL3"	"MONDO:0044312"	"immunoskeletal dysplasia with neurodevelopmental abnormalities"	"OMIM:617425"	"Immunoskeletal dysplasia with neurodevelopmental abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3518"	"EXTL3"	"OMIM:617425"	"Immunoskeletal dysplasia with neurodevelopmental abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-08 14:05:30"	""	""	"28132690, 28148688"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXTL30EXTL3def"	"2023-11-30"
"GENCC_000106-HGNC_3522-OMIM_601316-HP_0000006-GENCC_100002"	"HGNC:3522"	"EYA4"	"MONDO:0011031"	"autosomal dominant nonsyndromic hearing loss 10"	"OMIM:601316"	"Deafness, autosomal dominant 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3522"	"EYA4"	"OMIM:601316"	"autosomal dominant nonsyndromic hearing loss 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-17 07:59:28"	""	""	"11159937, 17567890, 18219393, 20301607, 22938506, 24123792, 25681523, 25781927, 25963406, 26015337, 32107406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EYA40Deafness"	"2023-11-30"
"GENCC_000106-HGNC_3535-OMIM_613679-HP_0000007-GENCC_100002"	"HGNC:3535"	"F2"	"MONDO:0013361"	"congenital prothrombin deficiency"	"OMIM:613679"	"Dysprothrombinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3535"	"F2"	"OMIM:613679"	"congenital prothrombin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 23:18:22"	""	""	"14629473, 16543981, 23852823, 613679, 8839854"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F20F2Def"	"2023-11-30"
"GENCC_000106-HGNC_3535-OMIM_188050-HP_0000006-GENCC_100002"	"HGNC:3535"	"F2"	"MONDO:0008559"	"thrombophilia due to thrombin defect"	"OMIM:188050"	"Thrombophilia 1 due to thrombin defect"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3535"	"F2"	"OMIM:188050"	"thrombophilia due to thrombin defect"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 13:54:16"	""	""	"12529095, 17898028, 19652888, 28762299, 4001558"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F20F2thrombophilia"	"2023-11-30"
"GENCC_000106-HGNC_3542-OMIM_188055-HP_0000006-GENCC_100002"	"HGNC:3542"	"F5"	"MONDO:0008560"	"thrombophilia due to activated protein C resistance"	"OMIM:188055"	"{Thrombophilia, susceptibility to, due to factor V Leiden}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3542"	"F5"	"OMIM:188055"	"thrombophilia due to activated protein C resistance"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-08 00:42:25"	""	""	"14695241, 17898028, 18349091, 19652888, 27090446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"F50F5thrombophilia"	"2023-11-30"
"GENCC_000106-HGNC_19129-OMIM_610992-HP_0000007-GENCC_100002"	"HGNC:19129"	"PSAT1"	"MONDO:0012596"	"PSAT deficiency"	"OMIM:610992"	"Phosphoserine aminotransferase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19129"	"PSAT1"	"OMIM:610992"	"?Phosphoserine aminotransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-31 08:44:08"	""	""	"17436247, 25152457, 27161889"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSAT10PSAT deficiency"	"2023-11-30"
"GENCC_000106-HGNC_18345-OMIM_617952-HP_0000007-GENCC_100002"	"HGNC:18345"	"TENT5A"	"MONDO:0044329"	"osteogenesis imperfecta, type 18"	"OMIM:617952"	"Osteogenesis imperfecta, type XVIII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18345"	"TENT5A"	"OMIM:617952"	"Osteogenesis imperfecta, type XVIII"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"244574, 26803617, 29358272"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAM46A0OI"	"2023-11-30"
"GENCC_000106-HGNC_29168-OMIM_611560-HP_0000007-GENCC_100002"	"HGNC:29168"	"RPGRIP1L"	"MONDO:0012694"	"Joubert syndrome 7"	"OMIM:611560"	"Joubert syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29168"	"RPGRIP1L"	"OMIM:611560"	"Joubert syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 23:26:14"	""	""	"17558409, 21866095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPGRIP1L0Joubert"	"2023-11-30"
"GENCC_000106-HGNC_23168-OMIM_618086-HP_0000007-GENCC_100002"	"HGNC:23168"	"FANCM"	"MONDO:0054732"	"spermatogenic failure 28"	"OMIM:618086"	"Spermatogenic failure 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23168"	"FANCM"	"OMIM:618086"	"spermatogenic failure 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"19561169, 28837162, 29231814, 29895858, 30075111, 34976027"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FANCM0MaleInfertility"	"2023-11-30"
"GENCC_000106-HGNC_21062-OMIM_614946-HP_0000007-GENCC_100002"	"HGNC:21062"	"FARS2"	"MONDO:0013986"	"combined oxidative phosphorylation defect type 14"	"OMIM:614946"	"Combined oxidative phosphorylation deficiency 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21062"	"FARS2"	"OMIM:614946"	"combined oxidative phosphorylation defect type 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-02 14:06:33"	""	""	"22499341, 22833457, 25851414, 27549011, 27652284"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FARS20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_21062-OMIM_617046-HP_0000007-GENCC_100002"	"HGNC:21062"	"FARS2"	"MONDO:0014882"	"hereditary spastic paraplegia 77"	"OMIM:617046"	"Spastic paraplegia 77, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21062"	"FARS2"	"OMIM:617046"	"hereditary spastic paraplegia 77"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"26553276, 29126765"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FARS20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_3592-OMIM_619013-HP_0000007-GENCC_100002"	"HGNC:3592"	"FARSA"	"MONDO:0100220"	"Rajab interstitial lung disease with brain calcifications 2"	"OMIM:619013"	"?Rajab interstitial lung disease with brain calcifications 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3592"	"FARSA"	"OMIM:619013"	"Rajab interstitial lung disease with brain calcifications 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-20 20:58:50"	""	""	"31355908, 33598926, 35918773"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FARSA0FARSArel"	"2023-11-30"
"GENCC_000106-HGNC_11936-OMIM_601859-HP_0000007-GENCC_100002"	"HGNC:11936"	"FASLG"	"MONDO:0011158"	"autoimmune lymphoproliferative syndrome type 1"	"OMIM:601859"	"{Autoimmune lymphoproliferative syndrome}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11936"	"FASLG"	"OMIM:601859"	"autoimmune lymphoproliferative syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:43:27"	""	""	"14764677, 16627752, 17605793, 22857792, 25451160, 26334989, 26456038, 8787672"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FASLG0AutoLymphSyn01"	"2023-11-30"
"GENCC_000106-HGNC_3596-OMIM_617769-HP_0000005-GENCC_100004"	"HGNC:3596"	"FAT2"	"MONDO:0033480"	"spinocerebellar ataxia 45"	"OMIM:617769"	"Spinocerebellar ataxia 45"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3596"	"FAT2"	"OMIM:617769"	"spinocerebellar ataxia 45"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-11-24 08:37:42"	""	""	"29053796, 31230722"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAT20SCA"	"2023-11-30"
"GENCC_000106-HGNC_23109-OMIM_616006-HP_0000007-GENCC_100002"	"HGNC:23109"	"FAT4"	"MONDO:0014454"	"Hennekam lymphangiectasia-lymphedema syndrome 2"	"OMIM:616006"	"Hennekam lymphangiectasia-lymphedema syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23109"	"FAT4"	"OMIM:616006"	"Hennekam lymphangiectasia-lymphedema syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-30 15:05:14"	""	""	"24056717, 24913602"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAT40HLL"	"2023-11-30"
"GENCC_000106-HGNC_3600-OMIM_608180-HP_0000005-GENCC_100004"	"HGNC:3600"	"FBLN1"	"MONDO:0011984"	"synpolydactyly type 2"	"OMIM:608180"	"Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3600"	"FBLN1"	"OMIM:608180"	"synpolydactyly type 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-29 12:08:48"	""	""	"11564885, 11836357, 14635206, 24084572, 25457163"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBLN10Synpolydactyly"	"2023-11-30"
"GENCC_000106-HGNC_29021-OMIM_611755-HP_0000007-GENCC_100002"	"HGNC:29021"	"CEP290"	"MONDO:0012723"	"Leber congenital amaurosis 10"	"OMIM:611755"	"Leber congenital amaurosis 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29021"	"CEP290"	"OMIM:611755"	"Leber congenital amaurosis 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 18:00:41"	""	""	"16909394, 17345604, 20690115, 28559085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP2900Leber"	"2023-11-30"
"GENCC_000106-HGNC_3603-OMIM_616914-HP_0000006-GENCC_100002"	"HGNC:3603"	"FBN1"	"MONDO:0014831"	"progeroid and marfanoid aspect-lipodystrophy syndrome"	"OMIM:616914"	"Marfan lipodystrophy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3603"	"FBN1"	"OMIM:616914"	"progeroid and marfanoid aspect-lipodystrophy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-09 12:36:38"	""	""	"20979188, 21594992, 21594993, 24613577, 27087445"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBN10Lipodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_3603-OMIM_154700-HP_0000006-GENCC_100002"	"HGNC:3603"	"FBN1"	"MONDO:0007947"	"Marfan syndrome"	"OMIM:154700"	"Marfan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3603"	"FBN1"	"OMIM:154700"	"Marfan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-24 00:23:39"	""	""	"17657824, 19293843, 19941982, 21542060, 27906200, 7762551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBN10Marfan"	"2023-11-30"
"GENCC_000106-HGNC_3603-OMIM_184900-HP_0000006-GENCC_100002"	"HGNC:3603"	"FBN1"	"MONDO:0008492"	"stiff skin syndrome"	"OMIM:184900"	"Stiff skin syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3603"	"FBN1"	"OMIM:184900"	"stiff skin syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:17"	""	""	"20375004, 26471116"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBN10StiffSkin"	"2023-11-30"
"GENCC_000106-HGNC_3603-OMIM_608328-HP_0000006-GENCC_100002"	"HGNC:3603"	"FBN1"	"MONDO:0012013"	"Weill-Marchesani syndrome 2, dominant"	"OMIM:608328"	"Weill-Marchesani syndrome 2, dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3603"	"FBN1"	"OMIM:608328"	"Weill-Marchesani syndrome 2, dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"12525539, 21683322, 22242013, 24793577"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBN10WeillMarch"	"2023-11-30"
"GENCC_000106-HGNC_3604-OMIM_121050-HP_0000006-GENCC_100002"	"HGNC:3604"	"FBN2"	"MONDO:0007363"	"congenital contractural arachnodactyly"	"OMIM:121050"	"Contractural arachnodactyly, congenital"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3604"	"FBN2"	"OMIM:121050"	"congenital contractural arachnodactyly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 19:39:12"	""	""	"18767143"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBN20CCA"	"2023-11-30"
"GENCC_000106-HGNC_3604-OMIM_616118-HP_0000006-GENCC_100004"	"HGNC:3604"	"FBN2"	"MONDO:0014501"	"macular degeneration, early-onset"	"OMIM:616118"	"Macular degeneration, early-onset"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3604"	"FBN2"	"OMIM:616118"	"Macular degeneration, early-onset"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-07-27 12:42:25"	""	""	"24899048, 251380, 282700, 282722"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBN20MacularDegen"	"2023-11-30"
"GENCC_000106-HGNC_29046-OMIM_619777-HP_0000006-GENCC_100002"	"HGNC:29046"	"FBXO28"	"MONDO:0030695"	"developmental and epileptic encephalopathy 100"	"OMIM:619777"	"Developmental and epileptic encephalopathy 100"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29046"	"FBXO28"	"OMIM:619777"	"developmental and epileptic encephalopathy 100"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-29 03:50:59"	""	""	"24357076, 25900767, 27184008, 30160831, 30635136, 33280099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXO280FBXO28rel"	"2023-11-30"
"GENCC_000106-HGNC_28521-OMIM_619696-HP_0000005-GENCC_100004"	"HGNC:28521"	"FBXO43"	"MONDO:0030522"	"spermatogenic failure 64"	"OMIM:619696"	"Spermatogenic failure 64"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28521"	"FBXO43"	"OMIM:619696"	"Spermatogenic failure 64"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-24 11:14:59"	""	""	"25363768, 30878252"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXO430FBXO43rel"	"2023-11-30"
"GENCC_000106-HGNC_28521-OMIM_619697-HP_0000005-GENCC_100004"	"HGNC:28521"	"FBXO43"	"MONDO:0030523"	"oocyte maturation defect 12"	"OMIM:619697"	"Oocyte/zygote/embryo maturation arrest 12"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28521"	"FBXO43"	"OMIM:619697"	"Oocyte/zygote/embryo maturation arrest 12"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-24 11:15:36"	""	""	"34052850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXO430FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_3642-OMIM_617717-HP_0000007-GENCC_100002"	"HGNC:3642"	"FDXR"	"MONDO:0060582"	"auditory neuropathy-optic atrophy syndrome"	"OMIM:617717"	"Auditory neuropathy and optic atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3642"	"FDXR"	"OMIM:617717"	"auditory neuropathy-optic atrophy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-31 22:45:01"	""	""	"28965846, 29040572, 72859288, 72860356, 72860452"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FDXR0FDXRrel"	"2023-11-30"
"GENCC_000106-HGNC_3647-OMIM_177000-HP_0000007-GENCC_100002"	"HGNC:3647"	"FECH"	"MONDO:0008319"	"protoporphyria, erythropoietic, 1"	"OMIM:177000"	"Protoporphyria, erythropoietic, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3647"	"FECH"	"OMIM:177000"	"protoporphyria, erythropoietic, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-19 14:42:10"	""	""	"20105171, 23016163, 23364466"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FECH0Protopor02"	"2023-11-30"
"GENCC_000106-HGNC_3661-OMIM_105200-HP_0000006-GENCC_100002"	"HGNC:3661"	"FGA"	"MONDO:0007099"	"familial visceral amyloidosis"	"OMIM:105200"	"Amyloidosis, hereditary systemic 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3661"	"FGA"	"OMIM:105200"	"familial visceral amyloidosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-14 11:47:27"	""	""	"10825402, 19109585, 23343498, 25331409, 26199771, 8113408"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGA0Amyloidosis"	"2023-11-30"
"GENCC_000106-HGNC_3661-OMIM_202400-HP_0000007-GENCC_100002"	"HGNC:3661"	"FGA"	"MONDO:0008737"	"congenital afibrinogenemia"	"OMIM:202400"	"Afibrinogenemia, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3661"	"FGA"	"OMIM:202400"	"congenital afibrinogenemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"10891444, 11354637, 11739173, 15795544, 25427968"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGA0HerFBGabnormal"	"2023-11-30"
"GENCC_000106-HGNC_3661-OMIM_616004-HP_0000006-GENCC_100002"	"HGNC:3661"	"FGA"	"MONDO:0014452"	"familial dysfibrinogenemia"	"OMIM:616004"	"Hypodysfibrinogenemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3661"	"FGA"	"OMIM:616004"	"familial dysfibrinogenemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:21:37"	""	""	"11354637, 11739173, 15795544, 16194209, 18771425, 25427968, 30418131, 31295712"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGA0HerFBGabnormal02"	"2023-11-30"
"GENCC_000106-HGNC_3662-OMIM_202400-HP_0000007-GENCC_100002"	"HGNC:3662"	"FGB"	"MONDO:0008737"	"congenital afibrinogenemia"	"OMIM:202400"	"Afibrinogenemia, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3662"	"FGB"	"OMIM:202400"	"congenital afibrinogenemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-29 09:03:25"	""	""	"23852822"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGB0HerFBGabnormal"	"2023-11-30"
"GENCC_000106-HGNC_17019-OMIM_612437-HP_0000007-GENCC_100002"	"HGNC:17019"	"PRICKLE1"	"MONDO:0012904"	"epilepsy, progressive myoclonic, 1B"	"OMIM:612437"	"Epilepsy, progressive myoclonic 1B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17019"	"PRICKLE1"	"OMIM:612437"	"Epilepsy, progressive myoclonic 1B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"18976727"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRICKLE10EPM1"	"2023-11-30"
"GENCC_000106-HGNC_618-OMIM_612551-HP_0000007-GENCC_100002"	"HGNC:618"	"APOL1"	"MONDO:0012931"	"focal segmental glomerulosclerosis 4, susceptibility to"	"OMIM:612551"	"{Glomerulosclerosis, focal segmental, 4, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:618"	"APOL1"	"OMIM:612551"	"{Glomerulosclerosis, focal segmental, 4, susceptibility to}"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-25 17:03:13"	""	""	"17192540, 23349334, 26215860, 31520189"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOL10APOL1rel"	"2023-11-30"
"GENCC_000106-HGNC_3686-OMIM_612702-HP_0000006-GENCC_100002"	"HGNC:3686"	"FGF8"	"MONDO:0012988"	"hypogonadotropic hypogonadism 6 with or without anosmia"	"OMIM:612702"	"Hypogonadotropic hypogonadism 6 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3686"	"FGF8"	"OMIM:612702"	"hypogonadotropic hypogonadism 6 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:08"	""	""	"17360555, 18596921, 20463092, 24280688, 251480"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF8kall"	"2023-11-30"
"GENCC_000106-HGNC_3687-OMIM_612961-HP_0000006-GENCC_100002"	"HGNC:3687"	"FGF9"	"MONDO:0013064"	"multiple synostoses syndrome 3"	"OMIM:612961"	"Multiple synostoses syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3687"	"FGF9"	"OMIM:612961"	"multiple synostoses syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-03 16:31:20"	""	""	"11493531, 19589401, 28169396, 28730625"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGF90MultSynostoses"	"2023-11-30"
"GENCC_000106-HGNC_3688-OMIM_101600-HP_0000006-GENCC_100002"	"HGNC:3688"	"FGFR1"	"MONDO:0007043"	"Pfeiffer syndrome"	"OMIM:101600"	"Pfeiffer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3688"	"FGFR1"	"OMIM:101600"	"Pfeiffer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-22 19:31:53"	""	""	"10942429, 14564217, 14613973, 16957473, 25183684, 25251565, 7874169"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR10Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_3688-OMIM_166250-HP_0000006-GENCC_100002"	"HGNC:3688"	"FGFR1"	"MONDO:0008150"	"osteoglophonic dwarfism"	"OMIM:166250"	"Osteoglophonic dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3688"	"FGFR1"	"OMIM:166250"	"osteoglophonic dwarfism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 13:21:28"	""	""	"15625620, 16470795, 20236123, 29147600"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR10OsteogloDyspl"	"2023-11-30"
"GENCC_000106-HGNC_3688-OMIM_147950-HP_0000006-GENCC_100002"	"HGNC:3688"	"FGFR1"	"MONDO:0007844"	"hypogonadotropic hypogonadism 2 with or without anosmia"	"OMIM:147950"	"Hypogonadotropic hypogonadism 2 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3688"	"FGFR1"	"OMIM:147950"	"hypogonadotropic hypogonadism 2 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 18:11:00"	""	""	"12627230"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR1kall"	"2023-11-30"
"GENCC_000106-HGNC_3689-OMIM_614592-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0013815"	"bent bone dysplasia syndrome 1"	"OMIM:614592"	"Bent bone dysplasia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3689"	"FGFR2"	"OMIM:614592"	"bent bone dysplasia syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:17"	""	""	"22387015, 24908667, 27240702"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR20BentBone"	"2023-11-30"
"GENCC_000106-HGNC_3689-OMIM_101600-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0007043"	"Pfeiffer syndrome"	"OMIM:101600"	"Pfeiffer syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3689"	"FGFR2"	"OMIM:101600"	"Pfeiffer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-30 15:39:10"	""	""	"14613973, 15523492, 18391498"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR20FGFR2rel"	"2023-11-30"
"GENCC_000106-HGNC_3689-OMIM_149730-HP_0000006-GENCC_100002"	"HGNC:3689"	"FGFR2"	"MONDO:0100302"	"LADD syndrome 1"	"OMIM:149730"	"LADD syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3689"	"FGFR2"	"OMIM:149730"	"LADD syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-03 12:36:52"	""	""	"16501574, 18056630, 18391498, 28043400"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR20LADD"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_100800-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0007037"	"achondroplasia"	"OMIM:100800"	"Achondroplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:100800"	"Achondroplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-21 21:26:04"	""	""	"7847369, 7913883, 8078586, 8640234, 9300656"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30Achondroplasia"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_610474-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0012504"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"OMIM:610474"	"CATSHL syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:610474"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:04:16"	""	""	"17033969, 194190, 24864036, 27139183"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30CATSHL"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_610474-HP_0000007-GENCC_100004"	"HGNC:3690"	"FGFR3"	"MONDO:0012504"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"OMIM:610474"	"CATSHL syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:610474"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-31 09:04:16"	""	""	"16441300, 24864036, 8630492"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30CATSHL02"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_612247-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0012833"	"Crouzon syndrome-acanthosis nigricans syndrome"	"OMIM:612247"	"Crouzon syndrome with acanthosis nigricans"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:612247"	"Crouzon syndrome-acanthosis nigricans syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-25 09:49:49"	""	""	"21536014, 7493034, 8880573"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30CrouzonAcan"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_146000-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0007793"	"hypochondroplasia"	"OMIM:146000"	"Hypochondroplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:146000"	"hypochondroplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-24 00:30:10"	""	""	"10696568, 15909185, 7670477, 8880574, 9450868"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30Hypochondro"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_149730-HP_0000006-GENCC_100004"	"HGNC:3690"	"FGFR3"	"MONDO:0100302"	"LADD syndrome 1"	"OMIM:149730"	"LADD syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:149730"	"LADD syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-31 09:03:35"	""	""	"16501574, 28483234"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30LADD"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_602849-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0011274"	"Muenke syndrome"	"OMIM:602849"	"Muenke syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:602849"	"Muenke syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 08:55:19"	""	""	"11467490, 18818193, 9042914, 9279753, 9580776"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30Muenke"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_616482-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0014658"	"severe achondroplasia-developmental delay-acanthosis nigricans syndrome"	"OMIM:616482"	"SADDAN"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:616482"	"SADDAN"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 08:57:50"	""	""	"10053006, 10671061, 11406607, 18076102"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30SADDAN"	"2023-11-30"
"GENCC_000106-HGNC_3690-OMIM_187601-HP_0000006-GENCC_100002"	"HGNC:3690"	"FGFR3"	"MONDO:0008547"	"thanatophoric dysplasia type 2"	"OMIM:187601"	"Thanatophoric dysplasia, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3690"	"FGFR3"	"OMIM:187601"	"thanatophoric dysplasia type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-21 07:04:46"	""	""	"19449430, 28249712, 7773297, 8640234, 8845844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGFR30Thanato"	"2023-11-30"
"GENCC_000106-HGNC_3694-OMIM_616004-HP_0000006-GENCC_100002"	"HGNC:3694"	"FGG"	"MONDO:0014452"	"familial dysfibrinogenemia"	"OMIM:616004"	"Hypodysfibrinogenemia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3694"	"FGG"	"OMIM:616004"	"familial dysfibrinogenemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:08"	""	""	"14996011, 23852822, 28992465, 29351094, 30418131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGG0HerFBGabnormal"	"2023-11-30"
"GENCC_000106-HGNC_3694-OMIM_202400-HP_0000007-GENCC_100002"	"HGNC:3694"	"FGG"	"MONDO:0008737"	"congenital afibrinogenemia"	"OMIM:202400"	"Afibrinogenemia, congenital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3694"	"FGG"	"OMIM:202400"	"congenital afibrinogenemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"23852822"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FGG0HerFBGabnormal02"	"2023-11-30"
"GENCC_000106-HGNC_3700-OMIM_150800-HP_0000006-GENCC_100002"	"HGNC:3700"	"FH"	"MONDO:0007888"	"hereditary leiomyomatosis and renal cell cancer"	"OMIM:150800"	"Leiomyomatosis and renal cell cancer"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3700"	"FH"	"OMIM:150800"	"hereditary leiomyomatosis and renal cell cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-04 13:17:55"	""	""	"11248088, 11865300, 12772087, 16098467, 20301430, 20618355, 21398687, 24334767, 25004247, 25012257, 28300276, 30306390, 31831373"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FH0HLRCC"	"2023-11-30"
"GENCC_000106-HGNC_3700-OMIM_606812-HP_0000007-GENCC_100002"	"HGNC:3700"	"FH"	"MONDO:0011730"	"fumaric aciduria"	"OMIM:606812"	"Fumarase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3700"	"FH"	"OMIM:606812"	"fumaric aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"11865300, 21398687"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FHdef"	"2023-11-30"
"GENCC_000106-HGNC_3702-OMIM_300696-HP_0001417-GENCC_100002"	"HGNC:3702"	"FHL1"	"MONDO:0010401"	"X-linked myopathy with postural muscle atrophy"	"OMIM:300696"	"Emery-Dreifuss muscular dystrophy 6, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3702"	"FHL1"	"OMIM:300696"	"X-linked myopathy with postural muscle atrophy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 07:16:55"	""	""	"18179888, 19687455, 19716112"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FHL10Emery0EDMD"	"2023-11-30"
"GENCC_000106-HGNC_11027-OMIM_612653-HP_0000006-GENCC_100002"	"HGNC:11027"	"SLC4A1"	"MONDO:0012981"	"hereditary spherocytosis type 4"	"OMIM:612653"	"Spherocytosis, type 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11027"	"SLC4A1"	"OMIM:612653"	"Spherocytosis, type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-06 23:58:38"	""	""	"18940465, 23255290, 8943874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A10Spherocytosis"	"2023-11-30"
"GENCC_000106-HGNC_11386-OMIM_612783-HP_0000007-GENCC_100002"	"HGNC:11386"	"STIM1"	"MONDO:0013008"	"combined immunodeficiency due to STIM1 deficiency"	"OMIM:612783"	"Immunodeficiency 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11386"	"STIM1"	"OMIM:612783"	"Immunodeficiency 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-19 15:21:42"	""	""	"19420366, 20876309"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STIM10STIM1def"	"2023-11-30"
"GENCC_000106-HGNC_143-OMIM_612794-HP_0000006-GENCC_100002"	"HGNC:143"	"ACTC1"	"MONDO:0013011"	"atrial septal defect 5"	"OMIM:612794"	"Atrial septal defect 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:143"	"ACTC1"	"OMIM:612794"	"Atrial septal defect 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-11 10:06:20"	""	""	"17947298, 24461919, 27139165"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTC10SyndStructHeart"	"2023-11-30"
"GENCC_000106-HGNC_16873-OMIM_612577-HP_0000005-GENCC_100004"	"HGNC:16873"	"FIG4"	"MONDO:0012945"	"amyotrophic lateral sclerosis type 11"	"OMIM:612577"	"Amyotrophic lateral sclerosis 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16873"	"FIG4"	"OMIM:612577"	"amyotrophic lateral sclerosis type 11"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-11 09:48:06"	""	""	"12710507, 19118816, 23336365, 25382069, 28051077, 33589474, 35021275, 35896380, 36090855"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FIG40ALS"	"2023-11-30"
"GENCC_000106-HGNC_16873-OMIM_611228-HP_0000007-GENCC_100002"	"HGNC:16873"	"FIG4"	"MONDO:0012640"	"Charcot-Marie-Tooth disease type 4J"	"OMIM:611228"	"Charcot-Marie-Tooth disease, type 4J"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16873"	"FIG4"	"OMIM:611228"	"Charcot-Marie-Tooth disease type 4J"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-03-11 10:22:35"	""	""	"169431, 20630877, 21655088, 24359958"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FIG40CMT"	"2023-11-30"
"GENCC_000106-HGNC_16873-OMIM_216340-HP_0000007-GENCC_100002"	"HGNC:16873"	"FIG4"	"MONDO:0008995"	"Yunis-Varon syndrome"	"OMIM:216340"	"Yunis-Varon syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16873"	"FIG4"	"OMIM:216340"	"Yunis-Varon syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"23623387"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FIG40YunisVaron"	"2023-11-30"
"GENCC_000106-HGNC_24669-OMIM_612310-HP_0000005-GENCC_100004"	"HGNC:24669"	"FIGLA"	"MONDO:0012861"	"premature ovarian failure 6"	"OMIM:612310"	"Premature ovarian failure 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24669"	"FIGLA"	"OMIM:612310"	"premature ovarian failure 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"135154, 18499083, 246786, 25314148, 27603904, 282894"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FIGLA0POF02"	"2023-11-30"
"GENCC_000106-HGNC_1318-OMIM_612925-HP_0000006-GENCC_100002"	"HGNC:1318"	"C3"	"MONDO:0013043"	"atypical hemolytic-uremic syndrome with C3 anomaly"	"OMIM:612925"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 5}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1318"	"C3"	"OMIM:612925"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 5}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-18 08:28:12"	""	""	"18796626, 22246034, 22669319, 23314101, 25608561, 25879158"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C30HemolyticUremic"	"2023-11-30"
"GENCC_000106-HGNC_18169-OMIM_610968-HP_0000007-GENCC_100002"	"HGNC:18169"	"FKBP10"	"MONDO:0012592"	"osteogenesis imperfecta type 11"	"OMIM:610968"	"Osteogenesis imperfecta, type XI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18169"	"FKBP10"	"OMIM:610968"	"osteogenesis imperfecta type 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-24 16:23:21"	""	""	"22107750, 22689593, 22718341, 22949511, 24777781, 27762305"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FKBP100OI"	"2023-11-30"
"GENCC_000106-HGNC_7983-OMIM_612964-HP_0000006-GENCC_100002"	"HGNC:7983"	"NR5A1"	"MONDO:0013065"	"premature ovarian failure 7"	"OMIM:612964"	"Adrenocortical insufficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7983"	"NR5A1"	"OMIM:612964"	"Premature ovarian failure 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:20:32"	""	""	"19246354, 19256354, 24073220"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR5A10POF"	"2023-11-30"
"GENCC_000106-HGNC_17997-OMIM_607155-HP_0000007-GENCC_100002"	"HGNC:17997"	"FKRP"	"MONDO:0011787"	"autosomal recessive limb-girdle muscular dystrophy type 2I"	"OMIM:607155"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17997"	"FKRP"	"OMIM:607155"	"autosomal recessive limb-girdle muscular dystrophy type 2I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-07 16:45:32"	""	""	"11592034, 12707425, 19900540, 23591631"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FKRP0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_3622-OMIM_253800-HP_0000007-GENCC_100002"	"HGNC:3622"	"FKTN"	"MONDO:0009678"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"	"OMIM:253800"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3622"	"FKTN"	"OMIM:253800"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:24"	""	""	"18752264, 22922256"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FKTN0ADG"	"2023-11-30"
"GENCC_000106-HGNC_3622-OMIM_611588-HP_0000007-GENCC_100002"	"HGNC:3622"	"FKTN"	"MONDO:0012699"	"autosomal recessive limb-girdle muscular dystrophy type 2M"	"OMIM:611588"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3622"	"FKTN"	"OMIM:611588"	"autosomal recessive limb-girdle muscular dystrophy type 2M"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"17044012, 17878207, 19342235, 23746544"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FKTN0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_3749-OMIM_617443-HP_0000007-GENCC_100004"	"HGNC:3749"	"FLI1"	"MONDO:0054577"	"bleeding disorder, platelet-type, 21"	"OMIM:617443"	"Bleeding disorder, platelet-type, 21"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3749"	"FLI1"	"OMIM:617443"	"bleeding disorder, platelet-type, 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-19 12:32:18"	""	""	"26316623"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLI10TP02"	"2023-11-30"
"GENCC_000106-HGNC_3749-OMIM_617443-HP_0000006-GENCC_100002"	"HGNC:3749"	"FLI1"	"MONDO:0054577"	"bleeding disorder, platelet-type, 21"	"OMIM:617443"	"Bleeding disorder, platelet-type, 21"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3749"	"FLI1"	"OMIM:617443"	"bleeding disorder, platelet-type, 21"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:18"	""	""	"10981960, 14597985, 24100448, 28748566"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLI10Thrombocytopen"	"2023-11-30"
"GENCC_000106-HGNC_3754-OMIM_300048-HP_0001417-GENCC_100002"	"HGNC:3754"	"FLNA"	"MONDO:0010232"	"intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked"	"OMIM:300048"	"Congenital short bowel syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3754"	"FLNA"	"OMIM:300048"	"intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-12 14:22:33"	""	""	"17357080, 23037936"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNA0Congenit"	"2023-11-30"
"GENCC_000106-HGNC_3754-OMIM_309350-HP_0001417-GENCC_100002"	"HGNC:3754"	"FLNA"	"MONDO:0010650"	"Melnick-Needles syndrome"	"OMIM:309350"	"Melnick-Needles syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3754"	"FLNA"	"OMIM:309350"	"Melnick-Needles syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-29 15:08:38"	""	""	"16835913, 28348077"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNA0FMD"	"2023-11-30"
"GENCC_000106-HGNC_3754-OMIM_314400-HP_0001417-GENCC_100002"	"HGNC:3754"	"FLNA"	"MONDO:0010753"	"cardiac valvular dysplasia, X-linked"	"OMIM:314400"	"Cardiac valvular dysplasia, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3754"	"FLNA"	"OMIM:314400"	"cardiac valvular dysplasia, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-16 12:55:26"	""	""	"17190868, 21773876, 24200678, 26686323, 26804200"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNA0MyxomaValvDys"	"2023-11-30"
"GENCC_000106-HGNC_3754-OMIM_304120-HP_0001417-GENCC_100002"	"HGNC:3754"	"FLNA"	"MONDO:0010571"	"otopalatodigital syndrome type 2"	"OMIM:304120"	"Otopalatodigital syndrome, type II"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3754"	"FLNA"	"OMIM:304120"	"otopalatodigital syndrome type 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"12612583, 27193221"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNA0Otopalatodigit"	"2023-11-30"
"GENCC_000106-HGNC_3754-OMIM_300049-HP_0001417-GENCC_100002"	"HGNC:3754"	"FLNA"	"MONDO:0010233"	"heterotopia, periventricular, X-linked dominant"	"OMIM:300049"	"Heterotopia, periventricular, 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3754"	"FLNA"	"OMIM:300049"	"heterotopia, periventricular, X-linked dominant"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 15:51:04"	""	""	"11532987, 16684786, 20730588, 26471271, 28457522, 28898549, 30557962, 9883725"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNA0PeriventHeterot"	"2023-11-30"
"GENCC_000106-HGNC_3754-OMIM_300244-HP_0001417-GENCC_100002"	"HGNC:3754"	"FLNA"	"MONDO:0010279"	"terminal osseous dysplasia-pigmentary defects syndrome"	"OMIM:300244"	"Terminal osseous dysplasia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3754"	"FLNA"	"OMIM:300244"	"terminal osseous dysplasia-pigmentary defects syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-04 09:53:31"	""	""	"20598277, 25614868, 26059211, 30561107"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNA0TODPD"	"2023-11-30"
"GENCC_000106-HGNC_3755-OMIM_108720-HP_0000006-GENCC_100002"	"HGNC:3755"	"FLNB"	"MONDO:0007167"	"atelosteogenesis type I"	"OMIM:108720"	"Atelosteogenesis, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3755"	"FLNB"	"OMIM:108720"	"atelosteogenesis type I"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-21 07:06:30"	""	""	"14991055, 16752402, 22190451, 24624349, 26491051"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNB0Atelosteogen"	"2023-11-30"
"GENCC_000106-HGNC_3755-OMIM_112310-HP_0000006-GENCC_100002"	"HGNC:3755"	"FLNB"	"MONDO:0007208"	"Boomerang dysplasia"	"OMIM:112310"	"Boomerang dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3755"	"FLNB"	"OMIM:112310"	"Boomerang dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:18"	""	""	"14991055, 15994868, 22190451"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNB0BoomDysplasia"	"2023-11-30"
"GENCC_000106-HGNC_3755-OMIM_272460-HP_0000007-GENCC_100002"	"HGNC:3755"	"FLNB"	"MONDO:0010094"	"spondylocarpotarsal synostosis syndrome"	"OMIM:272460"	"Spondylocarpotarsal synostosis syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3755"	"FLNB"	"OMIM:272460"	"spondylocarpotarsal synostosis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-06 14:55:19"	""	""	"121408, 14991055, 17360453, 17635842, 18470895, 251350, 251474"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNB0CST"	"2023-11-30"
"GENCC_000106-HGNC_3755-OMIM_150250-HP_0000006-GENCC_100002"	"HGNC:3755"	"FLNB"	"MONDO:0007875"	"Larsen syndrome"	"OMIM:150250"	"Larsen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3755"	"FLNB"	"OMIM:150250"	"Larsen syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 09:29:20"	""	""	"16648377, 16801345, 22190451, 26491051, 30916490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNB0LarsenSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_3756-OMIM_617047-HP_0000006-GENCC_100002"	"HGNC:3756"	"FLNC"	"MONDO:0014883"	"hypertrophic cardiomyopathy 26"	"OMIM:617047"	"Cardiomyopathy, familial restrictive 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3756"	"FLNC"	"OMIM:617047"	"hypertrophic cardiomyopathy 26"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 22:51:03"	""	""	"25351925, 28356264"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNC0HCM"	"2023-11-30"
"GENCC_000106-HGNC_3756-OMIM_609524-HP_0000006-GENCC_100002"	"HGNC:3756"	"FLNC"	"MONDO:0012289"	"myofibrillar myopathy 5"	"OMIM:609524"	"Myopathy, myofibrillar, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3756"	"FLNC"	"OMIM:609524"	"Myopathy, myofibrillar, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 11:38:01"	""	""	"15929027, 17412757, 22961544, 26472074, 26969713"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLNC0MFM"	"2023-11-30"
"GENCC_000106-HGNC_3762-OMIM_615271-HP_0000005-GENCC_100004"	"HGNC:3762"	"FLRT3"	"MONDO:0014107"	"hypogonadotropic hypogonadism 21 with or without anosmia"	"OMIM:615271"	"Hypogonadotropic hypogonadism 21 with anosmia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3762"	"FLRT3"	"OMIM:615271"	"hypogonadotropic hypogonadism 21 with or without anosmia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 09:26:03"	""	""	"23643382, 31200363"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLRT30Kallmann"	"2023-11-30"
"GENCC_000106-HGNC_3767-OMIM_153100-HP_0000006-GENCC_100002"	"HGNC:3767"	"FLT4"	"MONDO:0007919"	"lymphatic malformation 1"	"OMIM:153100"	"Lymphatic malformation 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3767"	"FLT4"	"OMIM:153100"	"lymphatic malformation 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 16:58:22"	""	""	"10835628, 10856194, 18279219, 23074044, 24167460, 28991257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLT40HerLymph1"	"2023-11-30"
"GENCC_000106-HGNC_3767-OMIM_618780-HP_0000006-GENCC_100002"	"HGNC:3767"	"FLT4"	"MONDO:0032913"	"congenital heart defects, multiple types, 7"	"OMIM:618780"	"Congenital heart defects, multiple types, 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3767"	"FLT4"	"OMIM:618780"	"Congenital heart defects, multiple types, 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-18 10:54:55"	""	""	"28991257, 30582441"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FLT40ToF"	"2023-11-30"
"GENCC_000106-HGNC_14074-OMIM_616193-HP_0000007-GENCC_100002"	"HGNC:14074"	"FMN2"	"MONDO:0014524"	"intellectual disability, autosomal recessive 47"	"OMIM:616193"	"Intellectual developmental disorder, autosomal recessive 47"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14074"	"FMN2"	"OMIM:616193"	"intellectual disability, autosomal recessive 47"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 14:19:42"	""	""	"10781961, 24161494, 25480035, 27301361"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FMN20ID"	"2023-11-30"
"GENCC_000106-HGNC_3775-OMIM_300624-HP_0001417-GENCC_100002"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"fragile X syndrome"	"OMIM:300624"	"Fragile X syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3775"	"FMR1"	"OMIM:300624"	"fragile X syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 14:24:02"	""	""	"1760838, 21540884, 22767137, 25606362"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FMR10FraX"	"2023-11-30"
"GENCC_000106-HGNC_3775-OMIM_300623-HP_0001417-GENCC_100002"	"HGNC:3775"	"FMR1"	"MONDO:0010382"	"fragile X-associated tremor/ataxia syndrome"	"OMIM:300623"	"Fragile X tremor/ataxia syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3775"	"FMR1"	"OMIM:300623"	"fragile X-associated tremor/ataxia syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-13 03:37:12"	""	""	"14747503, 17133502, 19367323, 21969264, 23793382, 25622649"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FMR10FraXTremor"	"2023-11-30"
"GENCC_000106-HGNC_3775-OMIM_311360-HP_0001417-GENCC_100002"	"HGNC:3775"	"FMR1"	"MONDO:0010706"	"premature ovarian failure 1"	"OMIM:311360"	"Premature ovarian failure 1"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:3775"	"FMR1"	"OMIM:311360"	"premature ovarian failure 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:45:44"	""	""	"10208170, 16251893, 21969264, 25147583"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FMR10POF"	"2023-11-30"
"GENCC_000106-HGNC_3778-OMIM_601894-HP_0000006-GENCC_100002"	"HGNC:3778"	"FN1"	"MONDO:0011165"	"glomerulopathy with fibronectin deposits 2"	"OMIM:601894"	"Glomerulopathy with fibronectin deposits 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3778"	"FN1"	"OMIM:601894"	"glomerulopathy with fibronectin deposits 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 15:44:42"	""	""	"18268355, 25356970, 27056061, 29131116"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FN10Glomerulopathy"	"2023-11-30"
"GENCC_000106-HGNC_3778-OMIM_184255-HP_0000006-GENCC_100002"	"HGNC:3778"	"FN1"	"MONDO:0008479"	"spondylometaphyseal dysplasia, 'corner fracture' type"	"OMIM:184255"	"Spondylometaphyseal dysplasia, corner fracture type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3778"	"FN1"	"OMIM:184255"	"spondylometaphyseal dysplasia, 'corner fracture' type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-25 12:16:50"	""	""	"29100092, 30051459, 30599297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FN10SpondyloDysCF"	"2023-11-30"
"GENCC_000106-HGNC_29418-OMIM_619705-HP_0000007-GENCC_100002"	"HGNC:29418"	"FNIP1"	"MONDO:0030528"	"immunodeficiency 93 and hypertrophic cardiomyopathy"	"OMIM:619705"	"Immunodeficiency 93 and hypertrophic cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29418"	"FNIP1"	"OMIM:619705"	"Immunodeficiency 93 and hypertrophic cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-02 08:45:17"	""	""	"27303042, 29897930, 32181500, 32905580"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FNIP10FNIP1rel"	"2023-11-30"
"GENCC_000106-HGNC_3800-OMIM_601631-HP_0000006-GENCC_100002"	"HGNC:3800"	"FOXC1"	"MONDO:0024456"	"anterior segment dysgenesis 3"	"OMIM:601631"	"Anterior segment dysgenesis 3, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3800"	"FOXC1"	"OMIM:601631"	"anterior segment dysgenesis 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 21:19:41"	""	""	"18694899, 20881294"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXC10AntSegDys"	"2023-11-30"
"GENCC_000106-HGNC_3800-OMIM_602482-HP_0000006-GENCC_100002"	"HGNC:3800"	"FOXC1"	"MONDO:0011233"	"Axenfeld-Rieger syndrome type 3"	"OMIM:602482"	"Axenfeld-Rieger syndrome, type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3800"	"FOXC1"	"OMIM:602482"	"Axenfeld-Rieger syndrome type 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 18:08:59"	""	""	"10713890, 10767326, 11170889, 11179011, 16936096, 17210863, 18498376, 18694899, 19513095, 9792859"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXC10Axenfeld"	"2023-11-30"
"GENCC_000106-HGNC_3806-OMIM_241850-HP_0000007-GENCC_100002"	"HGNC:3806"	"FOXE1"	"MONDO:0009437"	"Bamforth-Lazarus syndrome"	"OMIM:241850"	"Bamforth-Lazarus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3806"	"FOXE1"	"OMIM:241850"	"Bamforth-Lazarus syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 20:11:07"	""	""	"12165566, 16882747, 20453517, 24219130, 35963604, 9697704, 9697705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXE10Bamforth"	"2023-11-30"
"GENCC_000106-HGNC_3808-OMIM_610256-HP_0000007-GENCC_100002"	"HGNC:3808"	"FOXE3"	"MONDO:0012456"	"congenital primary aphakia"	"OMIM:610256"	"Anterior segment dysgenesis 2, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3808"	"FOXE3"	"OMIM:610256"	"congenital primary aphakia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-31 11:50:04"	""	""	"10652278, 16199865, 16826526, 17064680, 19708017, 20140963, 20361012, 25504734, 26995144, 27218149, 27669367, 28418495, 29136273, 29314435"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXE30Aphakia"	"2023-11-30"
"GENCC_000106-HGNC_3808-OMIM_107250-HP_0000006-GENCC_100002"	"HGNC:3808"	"FOXE3"	"MONDO:0007138"	"anterior segment dysgenesis 1"	"OMIM:107250"	"Anterior segment dysgenesis 1, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3808"	"FOXE3"	"OMIM:107250"	"anterior segment dysgenesis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-31 11:50:04"	""	""	"11159941, 11980846, 19708017, 20806047, 21150893, 25504734"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXE30MesenchymDys"	"2023-11-30"
"GENCC_000106-HGNC_3808-OMIM_617349-HP_0000006-GENCC_100002"	"HGNC:3808"	"FOXE3"	"MONDO:0044301"	"aortic aneurysm, familial thoracic 11, susceptibility to"	"OMIM:617349"	"{Aortic aneurysm, familial thoracic 11, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3808"	"FOXE3"	"OMIM:617349"	"aortic aneurysm, familial thoracic 11, susceptibility to"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-09-04 12:33:00"	""	""	"111042, 26854927"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXE30TAAD"	"2023-11-30"
"GENCC_000106-HGNC_3809-OMIM_265380-HP_0000006-GENCC_100002"	"HGNC:3809"	"FOXF1"	"MONDO:0009934"	"alveolar capillary dysplasia with misalignment of pulmonary veins"	"OMIM:265380"	"Alveolar capillary dysplasia with misalignment of pulmonary veins"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3809"	"FOXF1"	"OMIM:265380"	"alveolar capillary dysplasia with misalignment of pulmonary veins"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 01:54:44"	""	""	"19500772, 23505205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXF10Alveolar"	"2023-11-30"
"GENCC_000106-HGNC_3815-OMIM_600791-HP_0000005-GENCC_100004"	"HGNC:3815"	"FOXI1"	"MONDO:0010933"	"autosomal recessive nonsyndromic hearing loss 4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3815"	"FOXI1"	"OMIM:600791"	"autosomal recessive nonsyndromic hearing loss 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-05 09:33:08"	""	""	"12642503, 17503324, 19648736, 20621367, 21366453, 22285650, 22412181, 23965030, 250722, 251296, 25893603, 27997596, 29242249, 30268946, 9843211"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXI10EnlVestAq"	"2023-11-30"
"GENCC_000106-HGNC_1092-OMIM_110100-HP_0000006-GENCC_100002"	"HGNC:1092"	"FOXL2"	"MONDO:0007201"	"blepharophimosis, ptosis, and epicanthus inversus syndrome"	"OMIM:110100"	"Blepharophimosis, epicanthus inversus, and ptosis, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1092"	"FOXL2"	"OMIM:110100"	"blepharophimosis, ptosis, and epicanthus inversus syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-22 21:21:01"	""	""	"11468277, 15056605, 15300845, 15962237, 18372316, 18642388, 20184535, 20232352, 27283035, 31823134, 32962729, 33538981, 33796131, 33875939, 36338666"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXL20Bleph"	"2023-11-30"
"GENCC_000106-HGNC_1092-OMIM_608996-HP_0000005-GENCC_100004"	"HGNC:1092"	"FOXL2"	"MONDO:0012169"	"premature ovarian failure 3"	"OMIM:608996"	"Premature ovarian failure 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1092"	"FOXL2"	"OMIM:608996"	"Premature ovarian failure 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"12149404, 19429596, 27603904"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXL20POI"	"2023-11-30"
"GENCC_000106-HGNC_7983-OMIM_612965-HP_0000006-GENCC_100002"	"HGNC:7983"	"NR5A1"	"MONDO:0013066"	"46,XY sex reversal 3"	"OMIM:612965"	"46XY sex reversal 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7983"	"NR5A1"	"OMIM:612965"	"46XY sex reversal 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 11:13:50"	""	""	"10369247, 11932325, 12907682, 15472171, 17200175, 19246354, 22080441, 27490115, 29027299, 30668521"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR5A1046XY"	"2023-11-30"
"GENCC_000106-HGNC_12765-OMIM_601705-HP_0000007-GENCC_100002"	"HGNC:12765"	"FOXN1"	"MONDO:0011132"	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	"OMIM:601705"	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12765"	"FOXN1"	"OMIM:601705"	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:16:15"	""	""	"10206641, 15180707, 25173801"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXN10SCID"	"2023-11-30"
"GENCC_000106-HGNC_3823-OMIM_613670-HP_0000006-GENCC_100002"	"HGNC:3823"	"FOXP1"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"OMIM:613670"	"Intellectual developmental disorder with language impairment with or without autistic features"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3823"	"FOXP1"	"OMIM:613670"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-30 18:43:22"	""	""	"19332160, 20848658, 20950788, 21572417, 25853299, 26647308, 28735298, 31611379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXP10ID"	"2023-11-30"
"GENCC_000106-HGNC_6106-OMIM_304790-HP_0001417-GENCC_100002"	"HGNC:6106"	"FOXP3"	"MONDO:0010580"	"immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"	"OMIM:304790"	"Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:6106"	"FOXP3"	"OMIM:304790"	"immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 20:19:11"	""	""	"11137992, 11137993, 11768393, 17378693, 17629750, 21488902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXP30IPEX"	"2023-11-30"
"GENCC_000106-HGNC_26927-OMIM_252010-HP_0000007-GENCC_100002"	"HGNC:26927"	"FOXRED1"	"MONDO:0100224"	"mitochondrial complex I deficiency, nuclear type 1"	"OMIM:252010"	"Mitochondrial complex I deficiency, nuclear type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26927"	"FOXRED1"	"OMIM:252010"	"mitochondrial complex I deficiency, nuclear type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-21 16:16:45"	""	""	"20818383, 20858599, 22200994, 25525159, 25678554, 6257446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXRED10MC1def"	"2023-11-30"
"GENCC_000106-HGNC_19185-OMIM_219000-HP_0000007-GENCC_100002"	"HGNC:19185"	"FRAS1"	"MONDO:0054737"	"Fraser syndrome 1"	"OMIM:219000"	"Fraser syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19185"	"FRAS1"	"OMIM:219000"	"Fraser syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 19:15:26"	""	""	"12766769, 127667690, 16894541, 18671281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FRAS10Fraser"	"2023-11-30"
"GENCC_000106-HGNC_17116-OMIM_612997-HP_0000005-GENCC_100004"	"HGNC:17116"	"CATSPER1"	"MONDO:0013070"	"spermatogenic failure 7"	"OMIM:612997"	"Spermatogenic failure 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17116"	"CATSPER1"	"OMIM:612997"	"Spermatogenic failure 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"19344877, 21255775, 31028847, 31210147"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CATSPER10Spermato06"	"2023-11-30"
"GENCC_000106-HGNC_23399-OMIM_248450-HP_0000007-GENCC_100002"	"HGNC:23399"	"FREM1"	"MONDO:0009560"	"oculotrichoanal syndrome"	"OMIM:248450"	"Manitoba oculotrichoanal syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23399"	"FREM1"	"OMIM:248450"	"oculotrichoanal syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-13 09:07:17"	""	""	"16880404, 21507892, 23401257"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FREM10Oculotrichoan"	"2023-11-30"
"GENCC_000106-HGNC_23399-OMIM_614485-HP_0000006-GENCC_100004"	"HGNC:23399"	"FREM1"	"MONDO:0013774"	"trigonocephaly 2"	"OMIM:614485"	"Trigonocephaly 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23399"	"FREM1"	"OMIM:614485"	"trigonocephaly 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-10-13 09:12:51"	""	""	"21507892, 21931569, 30651579"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FREM10Trigonocephaly"	"2023-11-30"
"GENCC_000106-HGNC_25396-OMIM_219000-HP_0000007-GENCC_100002"	"HGNC:25396"	"FREM2"	"MONDO:0054737"	"Fraser syndrome 1"	"OMIM:219000"	"Fraser syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25396"	"FREM2"	"OMIM:219000"	"Fraser syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-02 16:49:11"	""	""	"15838507, 18203166, 24837523, 26552811, 29688405"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FREM20Fraser"	"2023-11-30"
"GENCC_000106-HGNC_25491-OMIM_616819-HP_0000007-GENCC_100002"	"HGNC:25491"	"FRMD4A"	"MONDO:0014787"	"severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"	"OMIM:616819"	"?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25491"	"FRMD4A"	"OMIM:616819"	"severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-02 08:28:59"	""	""	"25388005, 30214071, 34869127"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FRMD4A0?CorpusC"	"2023-11-30"
"GENCC_000106-HGNC_7176-OMIM_613073-HP_0000005-GENCC_100004"	"HGNC:7176"	"MMP9"	"MONDO:0013113"	"metaphyseal anadysplasia 2"	"OMIM:613073"	"Metaphyseal anadysplasia 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7176"	"MMP9"	"OMIM:613073"	"Metaphyseal anadysplasia 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:51"	""	""	"19615667, 28342220, 9590175"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMP90MetaphasealDys"	"2023-11-30"
"GENCC_000106-HGNC_8079-OMIM_310700-HP_0001417-GENCC_100002"	"HGNC:8079"	"FRMD7"	"MONDO:0010693"	"nystagmus 1, congenital, X-linked"	"OMIM:310700"	"Nystagmus 1, congenital, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8079"	"FRMD7"	"OMIM:310700"	"nystagmus 1, congenital, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-01 17:17:49"	""	""	"17013395, 17397053, 24688117, 25678693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FRMD70Nystagmus"	"2023-11-30"
"GENCC_000106-HGNC_1362-OMIM_616981-HP_0000007-GENCC_100002"	"HGNC:1362"	"FRRS1L"	"MONDO:0014859"	"developmental and epileptic encephalopathy, 37"	"OMIM:616981"	"Developmental and epileptic encephalopathy 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1362"	"FRRS1L"	"OMIM:616981"	"developmental and epileptic encephalopathy, 37"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-03 21:17:28"	""	""	"27236917, 27239025"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FRRS1L0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_3960-OMIM_607921-HP_0000006-GENCC_100004"	"HGNC:3960"	"FSCN2"	"MONDO:0011935"	"retinitis pigmentosa 30"	"OMIM:607921"	"Retinitis pigmentosa 30"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3960"	"FSCN2"	"OMIM:607921"	"retinitis pigmentosa 30"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-26 07:49:51"	""	""	"11527955, 16043865, 16280978, 17251446, 23484092, 24265693, 24618324, 25097241, 28157192, 28512305, 30190494, 31054281, 33946315"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FSCN20RP"	"2023-11-30"
"GENCC_000106-HGNC_6715-OMIM_613086-HP_0000007-GENCC_100002"	"HGNC:6715"	"LTBP2"	"MONDO:0013122"	"glaucoma 3, primary congenital, D"	"OMIM:613086"	"Glaucoma 3, primary congenital, D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6715"	"LTBP2"	"OMIM:613086"	"Glaucoma 3, primary congenital, D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-14 14:39:50"	""	""	"19361779, 19656777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LTBP20Glaucoma"	"2023-11-30"
"GENCC_000106-HGNC_3969-OMIM_233300-HP_0000007-GENCC_100002"	"HGNC:3969"	"FSHR"	"MONDO:0024463"	"ovarian dysgenesis 1"	"OMIM:233300"	"Ovarian dysgenesis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3969"	"FSHR"	"OMIM:233300"	"Ovarian dysgenesis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-27 10:13:48"	""	""	"10803590, 12915623, 23499866, 24051057, 25875778, 29157895, 30691934, 7553856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FSHR0OvarianDys"	"2023-11-30"
"GENCC_000106-HGNC_3969-OMIM_608115-HP_0000006-GENCC_100002"	"HGNC:3969"	"FSHR"	"MONDO:0011972"	"ovarian hyperstimulation syndrome"	"OMIM:608115"	"Ovarian hyperstimulation syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3969"	"FSHR"	"OMIM:608115"	"Ovarian hyperstimulation syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:09"	""	""	"11213123, 12930927, 12930928, 15080154, 15166252, 20378412, 26752859"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FSHR0OvarianHyper"	"2023-11-30"
"GENCC_000106-HGNC_21675-OMIM_618153-HP_0000007-GENCC_100002"	"HGNC:21675"	"FSIP2"	"MONDO:0029148"	"spermatogenic failure 34"	"OMIM:618153"	"Spermatogenic failure 34"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21675"	"FSIP2"	"OMIM:618153"	"Spermatogenic failure 34"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-01 08:17:37"	""	""	"30137358, 30745215"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FSIP20MMAF"	"2023-11-30"
"GENCC_000106-HGNC_3976-OMIM_615517-HP_0000005-GENCC_100004"	"HGNC:3976"	"FTH1"	"MONDO:0014225"	"hemochromatosis type 5"	"OMIM:615517"	"?Hemochromatosis, type 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3976"	"FTH1"	"OMIM:615517"	"hemochromatosis type 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 12:07:15"	""	""	"10652280, 11389486, 11468145, 1226033, 23111618, 600886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FTH10IronOv"	"2023-11-30"
"GENCC_000106-HGNC_3999-OMIM_600886-HP_0000006-GENCC_100002"	"HGNC:3999"	"FTL"	"MONDO:0010952"	"hereditary hyperferritinemia with congenital cataracts"	"OMIM:600886"	"Hyperferritinemia-cataract syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3999"	"FTL"	"OMIM:600886"	"hereditary hyperferritinemia with congenital cataracts"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"10383191, 11703332, 121378, 15173247, 15280904, 19176363, 19800271, 22881709, 23421845, 7493028"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FTL0HyperFerrCat"	"2023-11-30"
"GENCC_000106-HGNC_3999-OMIM_615604-HP_0000005-GENCC_100004"	"HGNC:3999"	"FTL"	"MONDO:0014274"	"L-ferritin deficiency"	"OMIM:615604"	"L-ferritin deficiency, dominant and recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3999"	"FTL"	"OMIM:615604"	"L-ferritin deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-02-08 09:15:41"	""	""	"120620, 121170, 15173247, 23940258, 32241646, 33548513"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FTL0LFerritinDef"	"2023-11-30"
"GENCC_000106-HGNC_3999-OMIM_606159-HP_0000006-GENCC_100002"	"HGNC:3999"	"FTL"	"MONDO:0011638"	"neuroferritinopathy"	"OMIM:606159"	"Neurodegeneration with brain iron accumulation 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3999"	"FTL"	"OMIM:606159"	"neuroferritinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"11438811, 15099026, 15835264, 16116125, 16822677, 17142829, 18171923, 18413574, 18755684, 18854324, 18981035, 19117339, 19519778, 19781644, 20159981, 21029774, 22348978, 24825732, 25447222, 25832658, 27158664, 49469924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FTL0NBIA"	"2023-11-30"
"GENCC_000106-HGNC_24678-OMIM_612938-HP_0000007-GENCC_100002"	"HGNC:24678"	"FTO"	"MONDO:0013050"	"lethal polymalformative syndrome, Boissel type"	"OMIM:612938"	"Growth retardation, developmental delay, facial dysmorphism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24678"	"FTO"	"OMIM:612938"	"lethal polymalformative syndrome, Boissel type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"17241623, 19234441, 19559399, 19833892, 251134, 251264, 251418, 26378117, 26697951, 26740239"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FTO0GDFD"	"2023-11-30"
"GENCC_000106-HGNC_29500-OMIM_618324-HP_0000005-GENCC_100004"	"HGNC:29500"	"FCSK"	"MONDO:0020777"	"congenital disorder of glycosylation with defective fucosylation 2"	"OMIM:618324"	"Congenital disorder of glycosylation with defective fucosylation 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29500"	"FCSK"	"OMIM:618324"	"congenital disorder of glycosylation with defective fucosylation 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-11 14:19:33"	""	""	"30503518"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FUK0CDG"	"2023-11-30"
"GENCC_000106-HGNC_4010-OMIM_608030-HP_0000006-GENCC_100002"	"HGNC:4010"	"FUS"	"MONDO:0011951"	"amyotrophic lateral sclerosis type 6"	"OMIM:608030"	"Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4010"	"FUS"	"OMIM:608030"	"amyotrophic lateral sclerosis type 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-30 00:30:38"	""	""	"19251627, 19251628, 20621307, 20660363, 21604077, 23217123, 23545117, 23681068, 25457557, 25625564, 608030"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FUS0ALS"	"2023-11-30"
"GENCC_000106-HGNC_4010-OMIM_614782-HP_0000005-GENCC_100004"	"HGNC:4010"	"FUS"	"MONDO:0013888"	"tremor, hereditary essential, 4"	"OMIM:614782"	"Essential tremor, hereditary, 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4010"	"FUS"	"OMIM:614782"	"tremor, hereditary essential, 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"22863194, 23834483, 24335621, 27395408, 31200479"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FUS0Tremor"	"2023-11-30"
"GENCC_000106-HGNC_4019-OMIM_618005-HP_0000007-GENCC_100002"	"HGNC:4019"	"FUT8"	"MONDO:0020775"	"congenital disorder of glycosylation with defective fucosylation 1"	"OMIM:618005"	"Congenital disorder of glycosylation with defective fucosylation 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4019"	"FUT8"	"OMIM:618005"	"congenital disorder of glycosylation with defective fucosylation 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"29304374"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FUT80CDG"	"2023-11-30"
"GENCC_000106-HGNC_26219-OMIM_182940-HP_0000005-GENCC_100004"	"HGNC:26219"	"FUZ"	"MONDO:0020705"	"neural tube defects, susceptibility to"	"OMIM:182940"	"{Neural tube defects, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26219"	"FUZ"	"OMIM:182940"	"neural tube defects, susceptibility to"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-02 11:58:47"	""	""	"21840926, 29068549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FUZ0NeuralTube"	"2023-11-30"
"GENCC_000106-HGNC_9202-OMIM_613155-HP_0000007-GENCC_100002"	"HGNC:9202"	"POMT1"	"MONDO:0013159"	"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1"	"OMIM:613155"	"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9202"	"POMT1"	"OMIM:613155"	"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 10:41:37"	""	""	"12369018, 15637732, 16575835"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMT10ADG"	"2023-11-30"
"GENCC_000106-HGNC_4023-OMIM_618822-HP_0000007-GENCC_100002"	"HGNC:4023"	"FXR1"	"MONDO:0032936"	"myopathy, congenital, with respiratory insufficiency and bone fractures"	"OMIM:618822"	"?Congenital myopathy 9A with respiratory insufficiency and bone fractures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4023"	"FXR1"	"OMIM:618822"	"?Congenital myopathy 9A with respiratory insufficiency and bone fractures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-10 14:12:08"	""	""	"5247813, 30770808"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FXR10Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_12703-OMIM_613194-HP_0000006-GENCC_100002"	"HGNC:12703"	"BEST1"	"MONDO:0013175"	"retinitis pigmentosa 50"	"OMIM:613194"	"Retinitis pigmentosa, concentric"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12703"	"BEST1"	"OMIM:613194"	"Retinitis pigmentosa-50"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-26 08:21:11"	""	""	"19853238, 21330666, 24560797, 25999674, 26716959, 27375279, 28512305, 28559085, 29641573, 29844330, 29847639, 31759503, 33512609, 33946315, 613194"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BEST10RP"	"2023-11-30"
"GENCC_000106-HGNC_4036-OMIM_273900-HP_0000007-GENCC_100002"	"HGNC:4036"	"FYB1"	"MONDO:0010120"	"thrombocytopenia 3"	"OMIM:273900"	"Thrombocytopenia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4036"	"FYB1"	"OMIM:273900"	"Thrombocytopenia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:09"	""	""	"25516138, 25876182"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FYB10TP"	"2023-11-30"
"GENCC_000106-HGNC_4040-OMIM_164745-HP_0000006-GENCC_100002"	"HGNC:4040"	"FZD2"	"MONDO:0008123"	"autosomal dominant omodysplasia"	"OMIM:164745"	"Omodysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4040"	"FZD2"	"OMIM:164745"	"autosomal dominant omodysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:19"	""	""	"25759469, 29276006, 29383834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FZD20Robinow"	"2023-11-30"
"GENCC_000106-HGNC_4042-OMIM_133780-HP_0000006-GENCC_100002"	"HGNC:4042"	"FZD4"	"MONDO:0007589"	"exudative vitreoretinopathy 1"	"OMIM:133780"	"Exudative vitreoretinopathy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4042"	"FZD4"	"OMIM:133780"	"exudative vitreoretinopathy 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-28 08:39:32"	""	""	"14750620, 20301326, 21097938, 21177847, 25711638, 26244290, 35951321"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FZD40ExudVitreoret"	"2023-11-30"
"GENCC_000106-HGNC_4042-OMIM_133780-HP_0000005-GENCC_100004"	"HGNC:4042"	"FZD4"	"MONDO:0007589"	"exudative vitreoretinopathy 1"	"OMIM:133780"	"Exudative vitreoretinopathy 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4042"	"FZD4"	"OMIM:133780"	"exudative vitreoretinopathy 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-28 08:39:32"	""	""	"20141357, 23441120, 28982955"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FZD40ROP"	"2023-11-30"
"GENCC_000106-HGNC_20297-OMIM_613229-HP_0000005-GENCC_100004"	"HGNC:20297"	"SLITRK1"	"MONDO:0013189"	"trichotillomania"	"OMIM:613229"	"?Trichotillomania"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20297"	"SLITRK1"	"OMIM:613229"	"?Trichotillomania"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"17003809, 18794888"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLITRK10?Trichot02"	"2023-11-30"
"GENCC_000106-HGNC_4044-OMIM_614157-HP_0000007-GENCC_100002"	"HGNC:4044"	"FZD6"	"MONDO:0029051"	"autosomal recessive nail dysplasia"	"OMIM:614157"	"OMIM:614157"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4044"	"FZD6"	"OMIM:614157"	"autosomal recessive nail dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"21665003, 2286112, 23374899, 27786367, 28545862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FZD60NailDiso"	"2023-11-30"
"GENCC_000106-HGNC_23791-OMIM_613237-HP_0000006-GENCC_100002"	"HGNC:23791"	"INF2"	"MONDO:0013191"	"focal segmental glomerulosclerosis 5"	"OMIM:613237"	"Glomerulosclerosis, focal segmental, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23791"	"INF2"	"OMIM:613237"	"Glomerulosclerosis, focal segmental, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 17:04:31"	""	""	"20023659, 21258034, 22187895, 22187985, 23014460, 30406062"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INF20FSGS"	"2023-11-30"
"GENCC_000106-HGNC_24861-OMIM_612541-HP_0000007-GENCC_100002"	"HGNC:24861"	"G6PC3"	"MONDO:0012930"	"autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"	"OMIM:612541"	"Neutropenia, severe congenital 4, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24861"	"G6PC3"	"OMIM:612541"	"autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:25:07"	""	""	"19118303, 23758768, 25491320, 285321"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"G6PC30G6PC3def"	"2023-11-30"
"GENCC_000106-HGNC_4065-OMIM_232300-HP_0000007-GENCC_100002"	"HGNC:4065"	"GAA"	"MONDO:0009290"	"glycogen storage disease II"	"OMIM:232300"	"Glycogen storage disease II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4065"	"GAA"	"OMIM:232300"	"glycogen storage disease II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-14 12:21:17"	""	""	"16634037, 18425781, 22252923"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GAA0Pompe"	"2023-11-30"
"GENCC_000106-HGNC_4066-OMIM_605428-HP_0000005-GENCC_100004"	"HGNC:4066"	"GAB1"	"MONDO:0011553"	"autosomal recessive nonsyndromic hearing loss 26"	"OMIM:605428"	"?Deafness, autosomal recessive 26"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4066"	"GAB1"	"OMIM:605428"	"?Deafness, autosomal recessive 26"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 13:55:30"	""	""	"29408807"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GAB10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4507-OMIM_617904-HP_0000006-GENCC_100002"	"HGNC:4507"	"GABBR2"	"MONDO:0033368"	"developmental and epileptic encephalopathy, 59"	"OMIM:617904"	"Developmental and epileptic encephalopathy 59"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4507"	"GABBR2"	"OMIM:617904"	"developmental and epileptic encephalopathy, 59"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-17 07:29:17"	""	""	"15240800, 25262651, 28856709, 29100083, 31780880, 32860008, 34055682, 34088892, 35414446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABBR20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_11947-OMIM_613286-HP_0000006-GENCC_100002"	"HGNC:11947"	"TNNI3"	"MONDO:0013211"	"dilated cardiomyopathy 1FF"	"OMIM:613286"	"Cardiomyopathy, dilated, 1FF"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11947"	"TNNI3"	"OMIM:613286"	"Cardiomyopathy, dilated, 1FF"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-10 10:57:33"	""	""	"11055985, 11273720, 11724573, 11735257, 15607392, 19590045, 19914256, 20086309, 20817590, 22027658, 22464770, 22675533, 226755333, 22876777, 242568, 24503780, 280804, 30165862, 9241277"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNI30DCM"	"2023-11-30"
"GENCC_000106-HGNC_4075-OMIM_615744-HP_0000006-GENCC_100002"	"HGNC:4075"	"GABRA1"	"MONDO:0014328"	"developmental and epileptic encephalopathy, 19"	"OMIM:615744"	"Developmental and epileptic encephalopathy 19"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4075"	"GABRA1"	"OMIM:615744"	"developmental and epileptic encephalopathy, 19"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 04:50:23"	""	""	"16718694"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRA10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_4076-OMIM_618557-HP_0000006-GENCC_100002"	"HGNC:4076"	"GABRA2"	"MONDO:0032812"	"developmental and epileptic encephalopathy, 78"	"OMIM:618557"	"Developmental and epileptic encephalopathy 78"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4076"	"GABRA2"	"OMIM:618557"	"developmental and epileptic encephalopathy, 78"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-01 08:26:12"	""	""	"25124326, 29422393, 29961870, 31032849, 32347641"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRA20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_27337-OMIM_613319-HP_0000007-GENCC_100002"	"HGNC:27337"	"ANO5"	"MONDO:0013222"	"Miyoshi muscular dystrophy 3"	"OMIM:613319"	"Miyoshi muscular dystrophy 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27337"	"ANO5"	"OMIM:613319"	"Miyoshi muscular dystrophy 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-09 08:06:32"	""	""	"114459, 30919934"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANO50DistalMyop"	"2023-11-30"
"GENCC_000106-HGNC_4079-OMIM_618559-HP_0000006-GENCC_100002"	"HGNC:4079"	"GABRA5"	"MONDO:0032813"	"developmental and epileptic encephalopathy, 79"	"OMIM:618559"	"Developmental and epileptic encephalopathy 79"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4079"	"GABRA5"	"OMIM:618559"	"developmental and epileptic encephalopathy, 79"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:19"	""	""	"27622563, 27894106, 29961870, 30033060, 31056671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRA50Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_4081-OMIM_617153-HP_0000006-GENCC_100002"	"HGNC:4081"	"GABRB1"	"MONDO:0014942"	"developmental and epileptic encephalopathy, 45"	"OMIM:617153"	"Developmental and epileptic encephalopathy 45"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4081"	"GABRB1"	"OMIM:617153"	"developmental and epileptic encephalopathy, 45"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:19"	""	""	"26950270, 27273810, 29186148, 31618474, 31780880"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRB10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_4083-OMIM_617113-HP_0000006-GENCC_100002"	"HGNC:4083"	"GABRB3"	"MONDO:0014921"	"developmental and epileptic encephalopathy, 43"	"OMIM:617113"	"Developmental and epileptic encephalopathy 43"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4083"	"GABRB3"	"OMIM:617113"	"developmental and epileptic encephalopathy, 43"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-21 23:35:35"	""	""	"16393151, 17983671, 23934111, 26950270, 28053010, 28544625, 29390378, 412490, 9108119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRB30EIEE"	"2023-11-30"
"GENCC_000106-HGNC_4083-OMIM_612269-HP_0000005-GENCC_100004"	"HGNC:4083"	"GABRB3"	"MONDO:0012843"	"epilepsy, childhood absence, susceptibility to, 5"	"OMIM:612269"	"{Epilepsy, childhood absence, susceptibility to, 5}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4083"	"GABRB3"	"OMIM:612269"	"epilepsy, childhood absence, susceptibility to, 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-16 13:39:13"	""	""	"16835263, 18514161, 22082659, 22765836"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRB30EIG"	"2023-11-30"
"GENCC_000106-HGNC_4084-OMIM_613060-HP_0000006-GENCC_100004"	"HGNC:4084"	"GABRD"	"MONDO:0013103"	"epilepsy, idiopathic generalized, susceptibility to, 10"	"OMIM:613060"	"{?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4084"	"GABRD"	"OMIM:613060"	"epilepsy, idiopathic generalized, susceptibility to, 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-03 22:52:19"	""	""	"15115768, 16023832, 28600779, 29649218, 29924869, 33391346"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRD0Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_4087-OMIM_618396-HP_0000006-GENCC_100002"	"HGNC:4087"	"GABRG2"	"MONDO:0032725"	"developmental and epileptic encephalopathy, 74"	"OMIM:618396"	"Developmental and epileptic encephalopathy 74"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4087"	"GABRG2"	"OMIM:618396"	"Developmental and epileptic encephalopathy 74"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-06-03 14:05:11"	""	""	"27864268, 31004928"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRG20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_4087-OMIM_607681-HP_0000006-GENCC_100002"	"HGNC:4087"	"GABRG2"	"MONDO:0011891"	"febrile seizures, familial, 8"	"OMIM:607681"	"Generalized epilepsy with febrile seizures plus, type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4087"	"GABRG2"	"OMIM:607681"	"febrile seizures, familial, 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-30 16:25:00"	""	""	"11326275, 12097483, 15866052, 18094250, 18825662, 22539854, 22750526, 24407264, 31004928"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABRG20EIG"	"2023-11-30"
"GENCC_000106-HGNC_4092-OMIM_603513-HP_0000007-GENCC_100004"	"HGNC:4092"	"GAD1"	"MONDO:0033613"	"neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"OMIM:603513"	"OMIM:603513"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4092"	"GAD1"	"OMIM:603513"	"cerebral palsy, spastic quadriplegic, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:48"	""	""	"15571623, 28454995"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GAD10CerebralPals"	"2023-11-30"
"GENCC_000106-HGNC_4092-OMIM_619124-HP_0000007-GENCC_100002"	"HGNC:4092"	"GAD1"	"MONDO:0030856"	"developmental and epileptic encephalopathy 89"	"OMIM:619124"	"Developmental and epileptic encephalopathy 89"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4092"	"GAD1"	"OMIM:619124"	"Developmental and epileptic encephalopathy 89"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-05 11:05:22"	""	""	"32282878, 32705143"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GAD10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_9688-OMIM_613327-HP_0000007-GENCC_100002"	"HGNC:9688"	"CAVIN1"	"MONDO:0013225"	"congenital generalized lipodystrophy type 4"	"OMIM:613327"	"Lipodystrophy, congenital generalized, type 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9688"	"CAVIN1"	"OMIM:613327"	"Lipodystrophy, congenital generalized, type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 23:13:01"	""	""	"20300641, 20684003, 27167729"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTRF0Lipodyst"	"2023-11-30"
"GENCC_000106-HGNC_4116-OMIM_230350-HP_0000007-GENCC_100002"	"HGNC:4116"	"GALE"	"MONDO:0009257"	"galactose epimerase deficiency"	"OMIM:230350"	"Galactose epimerase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4116"	"GALE"	"OMIM:230350"	"galactose epimerase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-09 12:30:33"	""	""	"16301867, 230350, 9326324, 9538513"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALE0GalactEpim"	"2023-11-30"
"GENCC_000106-HGNC_19877-OMIM_608812-HP_0000006-GENCC_100004"	"HGNC:19877"	"GALNT12"	"MONDO:0012132"	"colorectal cancer, susceptibility to, 1"	"OMIM:608812"	"{Colorectal cancer, susceptibility to, 1}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19877"	"GALNT12"	"OMIM:608812"	"colorectal cancer, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:27"	""	""	"19617566, 22461326, 24038392, 24115450, 24357849, 25525159, 29749045, 31263571, 31780696"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALNT120GALNT12relCanc"	"2023-11-30"
"GENCC_000106-HGNC_4124-OMIM_618885-HP_0000007-GENCC_100002"	"HGNC:4124"	"GALNT2"	"MONDO:0030043"	"congenital disorder of glycosylation, type iit"	"OMIM:618885"	"Congenital disorder of glycosylation, type IIt"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4124"	"GALNT2"	"OMIM:618885"	"congenital disorder of glycosylation, type iit"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-22 16:26:05"	""	""	"31191205, 32293671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALNT20GALNT2CDG"	"2023-11-30"
"GENCC_000106-HGNC_4135-OMIM_230400-HP_0000007-GENCC_100002"	"HGNC:4135"	"GALT"	"MONDO:0009258"	"classic galactosemia"	"OMIM:230400"	"Galactosemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4135"	"GALT"	"OMIM:230400"	"classic galactosemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:25:08"	""	""	"22944367, 230400"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GALT0G1PUTD"	"2023-11-30"
"GENCC_000106-HGNC_143-OMIM_613424-HP_0000006-GENCC_100002"	"HGNC:143"	"ACTC1"	"MONDO:0013261"	"dilated cardiomyopathy 1R"	"OMIM:613424"	"Cardiomyopathy, dilated, 1R"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:143"	"ACTC1"	"OMIM:613424"	"Cardiomyopathy, dilated, 1R"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-12 13:51:10"	""	""	"19799913, 21524215, 22464770, 24503780, 9563954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACTC10DCM"	"2023-11-30"
"GENCC_000106-HGNC_4138-OMIM_600666-HP_0000006-GENCC_100002"	"HGNC:4138"	"GANAB"	"MONDO:0010916"	"polycystic kidney disease 3 with or without polycystic liver disease"	"OMIM:600666"	"Polycystic kidney disease 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4138"	"GANAB"	"OMIM:600666"	"polycystic kidney disease 3 with or without polycystic liver disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 18:57:40"	""	""	"27259053, 28784653, 29243290"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GANAB0Polycyct"	"2023-11-30"
"GENCC_000106-HGNC_4162-OMIM_600794-HP_0000006-GENCC_100002"	"HGNC:4162"	"GARS1"	"MONDO:0015353"	"neuronopathy, distal hereditary motor, type 5A"	"OMIM:600794"	"Neuronopathy, distal hereditary motor, autosomal dominant 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4162"	"GARS1"	"OMIM:600794"	"neuronopathy, distal hereditary motor, type 5A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-21 08:25:44"	""	""	"12690580, 15358725, 16769947, 16982418, 17595294, 19470612, 20152552, 20301420, 25168514, 25218976, 26503042, 29520015, 8872480, 9879677"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GARS0CMT"	"2023-11-30"
"GENCC_000106-HGNC_4162-OMIM_601472-HP_0000006-GENCC_100002"	"HGNC:4162"	"GARS1"	"MONDO:0011091"	"Charcot-Marie-Tooth disease type 2D"	"OMIM:601472"	"Charcot-Marie-Tooth disease, type 2D"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4162"	"GARS1"	"OMIM:601472"	"Charcot-Marie-Tooth disease, type 2D"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-31 09:17:03"	""	""	"15358725, 16769947, 20152552, 20301420, 25168514, 26503042, 29520015, 32181591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GARS0HMN"	"2023-11-30"
"GENCC_000106-HGNC_4170-OMIM_300367-HP_0001417-GENCC_100002"	"HGNC:4170"	"GATA1"	"MONDO:0010308"	"thrombocytopenia, X-linked, with or without dyserythropoietic anemia"	"OMIM:300367"	"Thrombocytopenia, X-linked, with or without dyserythropoietic anemia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4170"	"GATA1"	"OMIM:300367"	"thrombocytopenia, X-linked, with or without dyserythropoietic anemia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 19:10:27"	""	""	"23704091"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATA10Cytopenia"	"2023-11-30"
"GENCC_000106-HGNC_4171-OMIM_614038-HP_0000006-GENCC_100002"	"HGNC:4171"	"GATA2"	"MONDO:0013540"	"deafness-lymphedema-leukemia syndrome"	"OMIM:614038"	"Emberger syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4171"	"GATA2"	"OMIM:614038"	"deafness-lymphedema-leukemia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-23 18:11:48"	""	""	"21670465, 23223431, 24345756"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATA20Emberger"	"2023-11-30"
"GENCC_000106-HGNC_4173-OMIM_607941-HP_0000006-GENCC_100002"	"HGNC:4173"	"GATA4"	"MONDO:0011938"	"atrial septal defect 2"	"OMIM:607941"	"Atrial septal defect 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4173"	"GATA4"	"OMIM:607941"	"atrial septal defect 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-04 10:59:30"	""	""	"12845333, 15235040, 15863664, 18672102, 22101736, 22589735, 24498650, 29377543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATA40SyndStructHeart"	"2023-11-30"
"GENCC_000106-HGNC_17755-OMIM_613494-HP_0000005-GENCC_100004"	"HGNC:17755"	"TNFRSF13C"	"MONDO:0013284"	"immunodeficiency, common variable, 4"	"OMIM:613494"	"Immunodeficiency, common variable, 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17755"	"TNFRSF13C"	"OMIM:613494"	"Immunodeficiency, common variable, 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-02-11 13:36:36"	""	""	"15294936, 15294946, 16160919, 19666484, 21576700, 22699762, 24375995, 24406071, 26012370, 26566763, 26613719, 27250108, 30216695, 33859323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF13C0CVID"	"2023-11-30"
"GENCC_000106-HGNC_4174-OMIM_600001-HP_0000006-GENCC_100002"	"HGNC:4174"	"GATA6"	"MONDO:0010802"	"pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"OMIM:600001"	"Pancreatic agenesis and congenital heart defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4174"	"GATA6"	"OMIM:600001"	"pancreatic hypoplasia-diabetes-congenital heart disease syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:27:16"	""	""	"22158542, 23223019, 24310933"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATA60PancreaticAgen"	"2023-11-30"
"GENCC_000106-HGNC_4174-OMIM_614474-HP_0000006-GENCC_100004"	"HGNC:4174"	"GATA6"	"MONDO:0013769"	"atrioventricular septal defect 5"	"OMIM:614474"	"Atrioventricular septal defect 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4174"	"GATA6"	"OMIM:614474"	"atrioventricular septal defect 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-27 13:40:30"	""	""	"10077612, 2058174, 22498567, 22962692, 23158662, 25119427"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATA60SyndStructHeart"	"2023-11-30"
"GENCC_000106-HGNC_29941-OMIM_614672-HP_0000007-GENCC_100004"	"HGNC:29941"	"GATAD1"	"MONDO:0013848"	"dilated cardiomyopathy 2B"	"OMIM:614672"	"?Cardiomyopathy, dilated, 2B"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29941"	"GATAD1"	"OMIM:614672"	"dilated cardiomyopathy 2B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"21965549, 28955713"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATAD10DCM"	"2023-11-30"
"GENCC_000106-HGNC_30778-OMIM_615074-HP_0000006-GENCC_100002"	"HGNC:30778"	"GATAD2B"	"MONDO:0014034"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"OMIM:615074"	"GAND syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30778"	"GATAD2B"	"OMIM:615074"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:44:35"	""	""	"23033978, 25356899, 27159321, 28077840"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATAD2B0ID"	"2023-11-30"
"GENCC_000106-HGNC_7315-OMIM_613495-HP_0000005-GENCC_100004"	"HGNC:7315"	"MS4A1"	"MONDO:0013285"	"immunodeficiency, common variable, 5"	"OMIM:613495"	"?Immunodeficiency, common variable, 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7315"	"MS4A1"	"OMIM:613495"	"?Immunodeficiency, common variable, 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:01"	""	""	"20038800, 27084067"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MS4A10Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_4175-OMIM_612718-HP_0000007-GENCC_100002"	"HGNC:4175"	"GATM"	"MONDO:0012996"	"AGAT deficiency"	"OMIM:612718"	"Cerebral creatine deficiency syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4175"	"GATM"	"OMIM:612718"	"AGAT deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:54"	""	""	"11555793"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATM0CreatineCereb"	"2023-11-30"
"GENCC_000106-HGNC_4177-OMIM_230800-HP_0000007-GENCC_100002"	"HGNC:4177"	"GBA1"	"MONDO:0009265"	"Gaucher disease type I"	"OMIM:230800"	"Gaucher disease, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4177"	"GBA1"	"OMIM:230800"	"Gaucher disease type I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 22:51:01"	""	""	"10079102, 10796875, 11783951, 1594045, 22451204, 23225227, 23430543, 23749476, 9153297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GBA0Gaucher"	"2023-11-30"
"GENCC_000106-HGNC_4177-OMIM_168600-HP_0000006-GENCC_100004"	"HGNC:4177"	"GBA1"	"MONDO:0008199"	"late-onset Parkinson disease"	"OMIM:168600"	"{Parkinson disease, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4177"	"GBA1"	"OMIM:168600"	"late-onset Parkinson disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-07-16 08:15:12"	""	""	"16790605, 22118943, 24126159, 24997549, 25518742, 37280314"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GBA0Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_4180-OMIM_232500-HP_0000007-GENCC_100002"	"HGNC:4180"	"GBE1"	"MONDO:0009292"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"OMIM:232500"	"Glycogen storage disease IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4180"	"GBE1"	"OMIM:232500"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 11:04:13"	""	""	"15452297, 20058079, 23034915, 25665141, 30303820, 31680123, 9851430"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GBE10GSD"	"2023-11-30"
"GENCC_000106-HGNC_1701-OMIM_613496-HP_0000005-GENCC_100004"	"HGNC:1701"	"CD81"	"MONDO:0013286"	"immunodeficiency, common variable, 6"	"OMIM:613496"	"Immunodeficiency, common variable, 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1701"	"CD81"	"OMIM:613496"	"Immunodeficiency, common variable, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-12-09 20:52:16"	""	""	"20237408, 25739915, 30290665, 33046446, 35849269"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD810Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_4193-OMIM_128230-HP_0000006-GENCC_100002"	"HGNC:4193"	"GCH1"	"MONDO:0007495"	"dystonia 5"	"OMIM:128230"	"Dystonia, DOPA-responsive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4193"	"GCH1"	"OMIM:128230"	"dystonia 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:13:24"	""	""	"11113234, 11956954, 19491146, 20301334"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCH10Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_4193-OMIM_233910-HP_0000007-GENCC_100002"	"HGNC:4193"	"GCH1"	"MONDO:0100186"	"GTP cyclohydrolase I deficiency with hyperphenylalaninemia"	"OMIM:233910"	"Hyperphenylalaninemia, BH4-deficient, B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4193"	"GCH1"	"OMIM:233910"	"GTP cyclohydrolase I deficiency with hyperphenylalaninemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 16:42:35"	""	""	"19332422, 25557619, 9667588"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCH10Hyperphe"	"2023-11-30"
"GENCC_000106-HGNC_4195-OMIM_602485-HP_0000006-GENCC_100002"	"HGNC:4195"	"GCK"	"MONDO:0011236"	"hyperinsulinism due to glucokinase deficiency"	"OMIM:602485"	"Hyperinsulinemic hypoglycemia, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4195"	"GCK"	"OMIM:602485"	"hyperinsulinism due to glucokinase deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:06:13"	""	""	"11916951, 12941786, 18450771, 19336674, 21454522, 9435328"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCK0HIHfamilial"	"2023-11-30"
"GENCC_000106-HGNC_4195-OMIM_125851-HP_0000006-GENCC_100002"	"HGNC:4195"	"GCK"	"MONDO:0007453"	"maturity-onset diabetes of the young type 2"	"OMIM:125851"	"MODY, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4195"	"GCK"	"OMIM:125851"	"maturity-onset diabetes of the young type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-12 21:13:22"	""	""	"19790256, 22335469, 22493702, 24323243"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCK0MODY"	"2023-11-30"
"GENCC_000106-HGNC_4195-OMIM_606176-HP_0000007-GENCC_100002"	"HGNC:4195"	"GCK"	"MONDO:0100165"	"permanent neonatal diabetes mellitus 1"	"OMIM:606176"	"Diabetes mellitus, permanent neonatal 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4195"	"GCK"	"OMIM:606176"	"permanent neonatal diabetes mellitus 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 09:56:00"	""	""	"11372010, 14578306, 22291974, 24411943, 25015100, 7553875, 9867845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCK0PermNeoDiabMel"	"2023-11-30"
"GENCC_000106-HGNC_4311-OMIM_230450-HP_0000007-GENCC_100002"	"HGNC:4311"	"GCLC"	"MONDO:0009259"	"gamma-glutamylcysteine synthetase deficiency"	"OMIM:230450"	"Anemia, congenital, nonspherocytic hemolytic, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4311"	"GCLC"	"OMIM:230450"	"gamma-glutamylcysteine synthetase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"10515893, 10733484, 11118286, 12663448, 18024385, 21657237, 28571779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCLC0Hemolyti05"	"2023-11-30"
"GENCC_000106-HGNC_4198-OMIM_617343-HP_0000005-GENCC_100004"	"HGNC:4198"	"GCM2"	"MONDO:0024570"	"hyperparathyroidism 4"	"OMIM:617343"	"Hyperparathyroidism 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4198"	"GCM2"	"OMIM:617343"	"Hyperparathyroidism 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-02-19 10:59:13"	""	""	"27745835, 31671402, 32576032, 33471711, 33536578, 34008892, 34662886, 34967908, 35038313"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCM20HPT"	"2023-11-30"
"GENCC_000106-HGNC_4198-OMIM_618883-HP_0000007-GENCC_100002"	"HGNC:4198"	"GCM2"	"MONDO:0020798"	"hypoparathyroidism, familial isolated, 2"	"OMIM:618883"	"Hypoparathyroidism, familial isolated 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4198"	"GCM2"	"OMIM:618883"	"Hypoparathyroidism, familial isolated 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 14:39:04"	""	""	"20190276, 23155703"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCM20Hypoparathy"	"2023-11-30"
"GENCC_000106-HGNC_4204-OMIM_116700-HP_0000007-GENCC_100002"	"HGNC:4204"	"GCNT2"	"MONDO:0007289"	"cataract 13 with adult I phenotype"	"OMIM:116700"	"Cataract 13 with adult i phenotype"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4204"	"GCNT2"	"OMIM:116700"	"cataract 13 with adult I phenotype"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:57"	""	""	"11739194, 12424189, 12468428, 15161861, 1.58872E+15, 16107727, 21761136, 28224043"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCNT20CataractAdulti"	"2023-11-30"
"GENCC_000106-HGNC_19027-OMIM_613506-HP_0000005-GENCC_100004"	"HGNC:19027"	"LRRC8A"	"MONDO:0013290"	"agammaglobulinemia 5, autosomal dominant"	"OMIM:613506"	"?Agammaglobulinemia 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19027"	"LRRC8A"	"OMIM:613506"	"?Agammaglobulinemia 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-12 13:56:07"	""	""	"14660746, 25257378, 27577878"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRRC8A0Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_15968-OMIM_608340-HP_0000007-GENCC_100002"	"HGNC:15968"	"GDAP1"	"MONDO:0012014"	"Charcot-Marie-Tooth disease recessive intermediate A"	"OMIM:608340"	"Charcot-Marie-Tooth disease, recessive intermediate, A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15968"	"GDAP1"	"OMIM:608340"	"Charcot-Marie-Tooth disease, recessive intermediate, A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"11743579, 11743580, 16941080, 20685671, 21753178, 23456260, 24480485, 25403865, 606598, 8268915, 9933296"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDAP10CMT"	"2023-11-30"
"GENCC_000106-HGNC_15968-OMIM_607831-HP_0000006-GENCC_100002"	"HGNC:15968"	"GDAP1"	"MONDO:0011916"	"Charcot-Marie-Tooth disease axonal type 2K"	"OMIM:607831"	"Charcot-Marie-Tooth disease, axonal, type 2K"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15968"	"GDAP1"	"OMIM:607831"	"?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:21:56"	""	""	"11743579, 15805163, 16941080, 18021315, 18231710, 19782751, 20685671, 20849849, 21753178, 21890626, 24480485, 25168384, 606598, 8268915, 9933296"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDAP10CMT02"	"2023-11-30"
"GENCC_000106-HGNC_18010-OMIM_618369-HP_0000007-GENCC_100002"	"HGNC:18010"	"GDAP2"	"MONDO:0032706"	"spinocerebellar ataxia, autosomal recessive 27"	"OMIM:618369"	"Spinocerebellar ataxia, autosomal recessive 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18010"	"GDAP2"	"OMIM:618369"	"spinocerebellar ataxia, autosomal recessive 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-04-27 18:17:52"	""	""	"30084953, 32428220, 32437512"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDAP20ARCAT"	"2023-11-30"
"GENCC_000106-HGNC_4214-OMIM_217095-HP_0000005-GENCC_100004"	"HGNC:4214"	"GDF1"	"MONDO:0016581"	"conotruncal heart malformations"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4214"	"GDF1"	"OMIM:217095"	"conotruncal heart malformations"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-06 11:54:40"	""	""	"156222, 17924340, 28991257, 29368431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF10CHD"	"2023-11-30"
"GENCC_000106-HGNC_4214-OMIM_208530-HP_0000007-GENCC_100002"	"HGNC:4214"	"GDF1"	"MONDO:0008832"	"right atrial isomerism"	"OMIM:208530"	"Right atrial isomerism (Ivemark)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4214"	"GDF1"	"OMIM:208530"	"right atrial isomerism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-16 06:15:54"	""	""	"10700179, 17924340, 20413652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF10Heterotaxy"	"2023-11-30"
"GENCC_000106-HGNC_4216-OMIM_619122-HP_0000005-GENCC_100004"	"HGNC:4216"	"GDF11"	"MONDO:0030871"	"vertebral hypersegmentation and orofacial anomalies"	"OMIM:619122"	"?Vertebral hypersegmentation and orofacial anomalies"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4216"	"GDF11"	"OMIM:619122"	"vertebral hypersegmentation and orofacial anomalies"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-12-23 08:32:48"	""	""	"26489027, 31215115"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF110GDF11rel"	"2023-11-30"
"GENCC_000106-HGNC_4217-OMIM_615506-HP_0000005-GENCC_100004"	"HGNC:4217"	"GDF2"	"MONDO:0014217"	"telangiectasia, hereditary hemorrhagic, type 5"	"OMIM:615506"	"Telangiectasia, hereditary hemorrhagic, type 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4217"	"GDF2"	"OMIM:615506"	"telangiectasia, hereditary hemorrhagic, type 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-13 15:46:48"	""	""	"32618121"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF20LymphDys"	"2023-11-30"
"GENCC_000106-HGNC_4218-OMIM_613702-HP_0000006-GENCC_100004"	"HGNC:4218"	"GDF3"	"MONDO:0013375"	"Klippel-Feil syndrome 3, autosomal dominant"	"OMIM:613702"	"Klippel-Feil syndrome 3, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4218"	"GDF3"	"OMIM:613702"	"Klippel-Feil syndrome 3, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-16 13:06:00"	""	""	"15241163, 17936261, 19008465, 19864492, 23307924, 24859618, 25372014, 29260090, 29450879, 29735971"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF30GDF3rel"	"2023-11-30"
"GENCC_000106-HGNC_6215-OMIM_613641-HP_0000005-GENCC_100004"	"HGNC:6215"	"KARS1"	"MONDO:0013338"	"Charcot-Marie-Tooth disease recessive intermediate B"	"OMIM:613641"	"?Charcot-Marie-Tooth disease, recessive intermediate, B"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6215"	"KARS1"	"OMIM:613641"	"?Charcot-Marie-Tooth disease, recessive intermediate, B"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"20920668, 23596069, 25330800, 26741492, 28496994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KARS0KARSrel"	"2023-11-30"
"GENCC_000106-HGNC_4220-OMIM_200700-HP_0000007-GENCC_100002"	"HGNC:4220"	"GDF5"	"MONDO:0008703"	"acromesomelic dysplasia 2A"	"OMIM:200700"	"Acromesomelic dysplasia 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4220"	"GDF5"	"OMIM:200700"	"acromesomelic dysplasia 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-22 19:24:24"	""	""	"390625, 12121354, 12124730, 12357473, 16014698, 19038017, 27577507, 8145850, 8589725, 9288091"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF50Chondrod"	"2023-11-30"
"GENCC_000106-HGNC_6242-OMIM_613693-HP_0000006-GENCC_100004"	"HGNC:6242"	"KCNE2"	"MONDO:0013370"	"long QT syndrome 6"	"OMIM:613693"	"Long QT syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6242"	"KCNE2"	"OMIM:613693"	"Long QT syndrome 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-04 10:44:20"	""	""	"16754665, 19862833, 28794082, 29672598, 30847666, 31737537"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNE20LongQT"	"2023-11-30"
"GENCC_000106-HGNC_4221-OMIM_118100-HP_0000006-GENCC_100004"	"HGNC:4221"	"GDF6"	"MONDO:0007306"	"Klippel-Feil syndrome 1, autosomal dominant"	"OMIM:118100"	"Klippel-Feil syndrome 1, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4221"	"GDF6"	"OMIM:118100"	"Klippel-Feil syndrome 1, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:22"	""	""	"12606286, 18425797, 19129173, 21070663, 23307924, 26633542, 28530678, 9880643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF60KlippelFeil"	"2023-11-30"
"GENCC_000106-HGNC_4221-OMIM_615360-HP_0000005-GENCC_100004"	"HGNC:4221"	"GDF6"	"MONDO:0014145"	"Leber congenital amaurosis 17"	"OMIM:615360"	"Leber congenital amaurosis 17"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4221"	"GDF6"	"OMIM:615360"	"Leber congenital amaurosis 17"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"18425797, 19129173, 21070663, 23307924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF60Leber"	"2023-11-30"
"GENCC_000106-HGNC_4221-OMIM_613094-HP_0000006-GENCC_100004"	"HGNC:4221"	"GDF6"	"MONDO:0013130"	"isolated microphthalmia 4"	"OMIM:613094"	"Microphthalmia, isolated 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4221"	"GDF6"	"OMIM:613094"	"Microphthalmia, isolated 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-11 12:08:34"	""	""	"18425797, 19129173, 19864492, 21070663, 23307924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF60Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_4221-OMIM_617898-HP_0000006-GENCC_100002"	"HGNC:4221"	"GDF6"	"MONDO:0054752"	"multiple synostoses syndrome 4"	"OMIM:617898"	"Multiple synostoses syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4221"	"GDF6"	"OMIM:617898"	"Multiple synostoses syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-04-30 13:43:29"	""	""	"12606286, 19129173, 23307924, 26643732, 29130651, 617898"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF60MultSynostoses"	"2023-11-30"
"GENCC_000106-HGNC_4224-OMIM_618014-HP_0000007-GENCC_100002"	"HGNC:4224"	"GDF9"	"MONDO:0044777"	"premature ovarian failure 14"	"OMIM:618014"	"Premature ovarian failure 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4224"	"GDF9"	"OMIM:618014"	"premature ovarian failure 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 09:24:45"	""	""	"29044499, 30406445, 33036707, 33538981, 33797006"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF90POF02"	"2023-11-30"
"GENCC_000106-HGNC_4226-OMIM_300849-HP_0001417-GENCC_100002"	"HGNC:4226"	"GDI1"	"MONDO:0010451"	"intellectual disability, X-linked 41"	"OMIM:300849"	"Intellectual developmental disorder, X-linked 41"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4226"	"GDI1"	"OMIM:300849"	"intellectual disability, X-linked 41"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:10"	""	""	"12354782, 21836662, 22002931, 26975778, 28863211, 9106537, 962076, 9620768, 9668174"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDI10XLID"	"2023-11-30"
"GENCC_000106-HGNC_15717-OMIM_617913-HP_0000007-GENCC_100002"	"HGNC:15717"	"GEMIN4"	"MONDO:0060664"	"neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"	"OMIM:617913"	"Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15717"	"GEMIN4"	"OMIM:617913"	"neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 19:43:25"	""	""	"25558065, 27878435, 29371219, 30237576, 35052432"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GEMIN40GEMIN4rel"	"2023-11-30"
"GENCC_000106-HGNC_20043-OMIM_619333-HP_0000007-GENCC_100002"	"HGNC:20043"	"GEMIN5"	"MONDO:0859152"	"neurodevelopmental disorder with cerebellar atrophy and motor dysfunction"	"OMIM:619333"	"Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20043"	"GEMIN5"	"OMIM:619333"	"neurodevelopmental disorder with cerebellar atrophy and motor dysfunction"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-25 14:04:18"	""	""	"33963192"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GEMIN50GEMIN5rel"	"2023-11-30"
"GENCC_000106-HGNC_9508-OMIM_613694-HP_0000006-GENCC_100004"	"HGNC:9508"	"PSEN1"	"MONDO:0013371"	"dilated cardiomyopathy 1U"	"OMIM:613694"	"?Cardiomyopathy, dilated, 1U"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9508"	"PSEN1"	"OMIM:613694"	"Cardiomyopathy, dilated, 1U"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-11 10:14:46"	""	""	"17186461, 17431506, 18045903, 20194882, 24217025"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSEN10DCM"	"2023-11-30"
"GENCC_000106-HGNC_4235-OMIM_203450-HP_0000006-GENCC_100002"	"HGNC:4235"	"GFAP"	"MONDO:0008752"	"Alexander disease"	"OMIM:203450"	"Alexander disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4235"	"GFAP"	"OMIM:203450"	"Alexander disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-14 00:59:04"	""	""	"11138011, 11567214, 15732097, 16826512, 17065456, 20448479, 21533827, 21917775, 23432455, 24755947, 31781017, 7737111"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFAP0Alexander"	"2023-11-30"
"GENCC_000106-HGNC_4236-OMIM_613076-HP_0000007-GENCC_100002"	"HGNC:4236"	"GFER"	"MONDO:0013116"	"congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"	"OMIM:613076"	"Myopathy, mitochondrial progressive, with congenital cataract and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4236"	"GFER"	"OMIM:613076"	"congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-26 08:25:04"	""	""	"19409522, 25269795, 26944241"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFER0MitoMyopathy"	"2023-11-30"
"GENCC_000106-HGNC_4237-OMIM_613107-HP_0000006-GENCC_100002"	"HGNC:4237"	"GFI1"	"MONDO:0013139"	"neutropenia, severe congenital, 2, autosomal dominant"	"OMIM:613107"	"Neutropenia, severe congenital 2, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4237"	"GFI1"	"OMIM:613107"	"neutropenia, severe congenital, 2, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-05 10:14:22"	""	""	"12778173, 16500901, 18328744, 19278956, 19775295, 22552881"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFI10Neutropenia"	"2023-11-30"
"GENCC_000106-HGNC_13780-OMIM_609060-HP_0000007-GENCC_100002"	"HGNC:13780"	"GFM1"	"MONDO:0012191"	"hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"	"OMIM:609060"	"Combined oxidative phosphorylation deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13780"	"GFM1"	"OMIM:609060"	"hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 11:34:37"	""	""	"16632485, 17160893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFM10OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_29682-OMIM_618397-HP_0000007-GENCC_100004"	"HGNC:29682"	"GFM2"	"MONDO:0032726"	"combined oxidative phosphorylation deficiency 39"	"OMIM:618397"	"Combined oxidative phosphorylation deficiency 39"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29682"	"GFM2"	"OMIM:618397"	"combined oxidative phosphorylation deficiency 39"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-06-03 13:55:45"	""	""	"22700954, 26016410, 29075935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFM20Leighsyn"	"2023-11-30"
"GENCC_000106-HGNC_4241-OMIM_610542-HP_0000007-GENCC_100002"	"HGNC:4241"	"GFPT1"	"MONDO:0012518"	"congenital myasthenic syndrome 12"	"OMIM:610542"	"Myasthenia, congenital, 12, with tubular aggregates"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4241"	"GFPT1"	"OMIM:610542"	"congenital myasthenic syndrome 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 06:55:03"	""	""	"21310273, 23794683"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFPT10CMS"	"2023-11-30"
"GENCC_000106-HGNC_4243-OMIM_619887-HP_0000007-GENCC_100002"	"HGNC:4243"	"GFRA1"	"MONDO:0030822"	"renal hypodysplasia/aplasia 4"	"OMIM:619887"	"Renal hypodysplasia/aplasia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4243"	"GFRA1"	"OMIM:619887"	"renal hypodysplasia/aplasia 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-01 08:09:20"	""	""	"33020172, 34737117, 36292572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GFRA10BRA"	"2023-11-30"
"GENCC_000106-HGNC_4247-OMIM_610842-HP_0000007-GENCC_100002"	"HGNC:4247"	"GGCX"	"MONDO:0012570"	"body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"	"OMIM:610842"	"Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4247"	"GGCX"	"OMIM:610842"	"body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"17110937, 18800149, 19116367, 25151188, 25264593"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GGCX0PseudoxanthLk"	"2023-11-30"
"GENCC_000106-HGNC_4247-OMIM_277450-HP_0000007-GENCC_100002"	"HGNC:4247"	"GGCX"	"MONDO:0010187"	"vitamin K-dependent clotting factors, combined deficiency of, type 1"	"OMIM:277450"	"Vitamin K-dependent clotting factors, combined deficiency of, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4247"	"GGCX"	"OMIM:277450"	"vitamin K-dependent clotting factors, combined deficiency of, type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-23 13:22:51"	""	""	"15287948, 17110937, 17327402, 19116367, 19340858, 24520408, 25151188"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GGCX0VitaminK"	"2023-11-30"
"GENCC_000106-HGNC_9508-OMIM_613737-HP_0000006-GENCC_100004"	"HGNC:9508"	"PSEN1"	"MONDO:0013398"	"acne inversa, familial, 3"	"OMIM:613737"	"?Acne inversa, familial, 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9508"	"PSEN1"	"OMIM:613737"	"?Acne inversa, familial, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"20929727, 24101600"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSEN10AcneInversa"	"2023-11-30"
"GENCC_000106-HGNC_4249-OMIM_619518-HP_0000007-GENCC_100002"	"HGNC:4249"	"GGPS1"	"MONDO:0859189"	"muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome"	"OMIM:619518"	"Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4249"	"GGPS1"	"OMIM:619518"	"Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 06:55:48"	""	""	"28357594, 28467865, 30680361, 32403198"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GGPS10GGPS1rel"	"2023-11-30"
"GENCC_000106-HGNC_939-OMIM_613881-HP_0000006-GENCC_100002"	"HGNC:939"	"BAG3"	"MONDO:0013479"	"dilated cardiomyopathy 1HH"	"OMIM:613881"	"Cardiomyopathy, dilated, 1HH"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:939"	"BAG3"	"OMIM:613881"	"Cardiomyopathy, dilated, 1HH"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:43:57"	""	""	"21353195, 21898660, 25008357"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BAG30DCM"	"2023-11-30"
"GENCC_000106-HGNC_4263-OMIM_604271-HP_0000006-GENCC_100002"	"HGNC:4263"	"GHR"	"MONDO:0011420"	"short stature due to partial GHR deficiency"	"OMIM:604271"	"Growth hormone insensitivity, partial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4263"	"GHR"	"OMIM:604271"	"Growth hormone insensitivity, partial"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:20"	""	""	"10084588, 11013443, 29188236, 7565946, 9140387, 9360529, 9467570"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GHR0GHI"	"2023-11-30"
"GENCC_000106-HGNC_4263-OMIM_262500-HP_0000007-GENCC_100002"	"HGNC:4263"	"GHR"	"MONDO:0009877"	"Laron syndrome"	"OMIM:262500"	"Laron dwarfism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4263"	"GHR"	"OMIM:262500"	"Laron syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-04 16:35:04"	""	""	"121388, 1284474, 1999489, 282756, 8488849, 8504296, 9371826"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GHR0Laron"	"2023-11-30"
"GENCC_000106-HGNC_4267-OMIM_615925-HP_0000007-GENCC_100004"	"HGNC:4267"	"GHSR"	"MONDO:0014403"	"short stature due to GHSR deficiency"	"OMIM:615925"	"Growth hormone deficiency, isolated partial"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4267"	"GHSR"	"OMIM:615925"	"short stature due to GHSR deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-02 12:42:40"	""	""	"15070777, 16322794, 19789204, 282042"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GHSR0GHD02"	"2023-11-30"
"GENCC_000106-HGNC_4267-OMIM_615925-HP_0000006-GENCC_100004"	"HGNC:4267"	"GHSR"	"MONDO:0014403"	"short stature due to GHSR deficiency"	"OMIM:615925"	"Growth hormone deficiency, isolated partial"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4267"	"GHSR"	"OMIM:615925"	"short stature due to GHSR deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-02 12:42:40"	""	""	"16511605, 17596538, 21084395, 21646290, 249640, 251024, 25557026"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GHSR0ShortStature"	"2023-11-30"
"GENCC_000106-HGNC_103-OMIM_613882-HP_0000006-GENCC_100002"	"HGNC:103"	"CNNM2"	"MONDO:0013480"	"renal hypomagnesemia 6"	"OMIM:613882"	"Hypomagnesemia 6, renal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:103"	"CNNM2"	"OMIM:613882"	"Hypomagnesemia 6, renal"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-05 12:13:49"	""	""	"21397062, 24699222, 33600043, 33859252, 37532502"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CNNM20Hypomagnesemia"	"2023-11-30"
"GENCC_000106-HGNC_11960-OMIM_607688-HP_0000005-GENCC_100004"	"HGNC:11960"	"GIGYF2"	"MONDO:0011896"	"Parkinson disease 11, autosomal dominant, susceptibility to"	"OMIM:607688"	"{Parkinson disease 11}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11960"	"GIGYF2"	"OMIM:607688"	"Parkinson disease 11, autosomal dominant, susceptibility to"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-30 07:24:10"	""	""	"12638082, 18358451, 18923002, 19279319, 19449032, 19744960, 20060621, 30245141, 32171587"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GIGYF20Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_18005-OMIM_619463-HP_0000007-GENCC_100002"	"HGNC:18005"	"GIMAP5"	"MONDO:0030397"	"portal hypertension, noncirrhotic, 2"	"OMIM:619463"	"Portal hypertension, noncirrhotic, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18005"	"GIMAP5"	"OMIM:619463"	"Portal hypertension, noncirrhotic, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:54:39"	""	""	"33956074"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GIMAP50NCPH"	"2023-11-30"
"GENCC_000106-HGNC_14294-OMIM_613950-HP_0000006-GENCC_100004"	"HGNC:14294"	"SHANK3"	"MONDO:0013498"	"schizophrenia 15"	"OMIM:613950"	"{Schizophrenia 15}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14294"	"SHANK3"	"OMIM:613950"	"{Schizophrenia 15}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-04-06 00:02:26"	""	""	"20385823, 24124131, 26687841, 29486958"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHANK30Schizophrenia"	"2023-11-30"
"GENCC_000106-HGNC_7983-OMIM_613957-HP_0000006-GENCC_100004"	"HGNC:7983"	"NR5A1"	"MONDO:0013504"	"spermatogenic failure 8"	"OMIM:613957"	"Spermatogenic failure 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7983"	"NR5A1"	"OMIM:613957"	"Spermatogenic failure 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-16 09:49:18"	""	""	"20887963, 23299922, 24067197, 24750329, 25989977, 32242295, 32655042, 33728612"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR5A10SpermFail"	"2023-11-30"
"GENCC_000106-HGNC_4274-OMIM_218400-HP_0000005-GENCC_100004"	"HGNC:4274"	"GJA1"	"MONDO:0009035"	"craniometaphyseal dysplasia, autosomal recessive"	"OMIM:218400"	"Craniometaphyseal dysplasia, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4274"	"GJA1"	"OMIM:218400"	"craniometaphyseal dysplasia, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-16 13:30:33"	""	""	"23951358, 282850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJA10Craniometaphdys"	"2023-11-30"
"GENCC_000106-HGNC_4274-OMIM_617525-HP_0000006-GENCC_100002"	"HGNC:4274"	"GJA1"	"MONDO:0033013"	"erythrokeratodermia variabilis et progressiva 3"	"OMIM:617525"	"Erythrokeratodermia variabilis et progressiva 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4274"	"GJA1"	"OMIM:617525"	"erythrokeratodermia variabilis et progressiva 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-02 14:58:37"	""	""	"25168385, 25398053, 30628963, 30631135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJA10Erythrokeratode"	"2023-11-30"
"GENCC_000106-HGNC_4274-OMIM_257850-HP_0000007-GENCC_100002"	"HGNC:4274"	"GJA1"	"MONDO:0009768"	"oculodentodigital dysplasia, autosomal recessive"	"OMIM:257850"	"Oculodentodigital dysplasia, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4274"	"GJA1"	"OMIM:257850"	"oculodentodigital dysplasia, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-20 19:59:07"	""	""	"14974090, 15551259, 16816024, 17476528, 20597923, 282836, 29902798"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJA10Oculodentodigit"	"2023-11-30"
"GENCC_000106-HGNC_4274-OMIM_164200-HP_0000006-GENCC_100002"	"HGNC:4274"	"GJA1"	"MONDO:0008111"	"oculodentodigital dysplasia"	"OMIM:164200"	"Oculodentodigital dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4274"	"GJA1"	"OMIM:164200"	"oculodentodigital dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-20 20:00:39"	""	""	"11470490, 12457340, 15551259, 15644317, 16816024, 17256797, 19338053, 20597923"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJA10Oculodentodigit02"	"2023-11-30"
"GENCC_000106-HGNC_4832-OMIM_613977-HP_0000005-GENCC_100004"	"HGNC:4832"	"HBG2"	"MONDO:0013511"	"cyanosis, transient neonatal"	"OMIM:613977"	"Cyanosis, transient neonatal"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4832"	"HBG2"	"OMIM:613977"	"Cyanosis, transient neonatal"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-12-09 22:15:57"	""	""	"22935660, 23460588, 25754164"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBG20Cyanosis"	"2023-11-30"
"GENCC_000106-HGNC_4274-OMIM_186100-HP_0000005-GENCC_100004"	"HGNC:4274"	"GJA1"	"MONDO:0008514"	"syndactyly type 3"	"OMIM:186100"	"Syndactyly, type III"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4274"	"GJA1"	"OMIM:186100"	"syndactyly type 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-27 11:23:20"	""	""	"27241686"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJA10Syndactyly"	"2023-11-30"
"GENCC_000106-HGNC_4279-OMIM_614049-HP_0000006-GENCC_100002"	"HGNC:4279"	"GJA5"	"MONDO:0013544"	"atrial fibrillation, familial, 11"	"OMIM:614049"	"Atrial fibrillation, familial, 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4279"	"GJA5"	"OMIM:614049"	"atrial fibrillation, familial, 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:10"	""	""	"16790700, 20650941, 20818502, 23292621, 23348765, 24144883, 24626989, 24733048, 24973497, 26498160, 28074886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJA50Afib"	"2023-11-30"
"GENCC_000106-HGNC_4281-OMIM_116200-HP_0000006-GENCC_100002"	"HGNC:4281"	"GJA8"	"MONDO:0007285"	"cataract 1 multiple types"	"OMIM:116200"	"Cataract 1, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4281"	"GJA8"	"OMIM:116200"	"cataract 1 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-31 14:12:32"	""	""	"10480374, 14627691, 16604058, 18326694, 21228318, 9813099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJA80CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_4284-OMIM_220290-HP_0000007-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0009076"	"autosomal recessive nonsyndromic hearing loss 1A"	"OMIM:220290"	"Deafness, digenic GJB2/GJB6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4284"	"GJB2"	"OMIM:220290"	"autosomal recessive nonsyndromic hearing loss 1A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 16:01:55"	""	""	"11313763, 12121617, 12172392, 16380907, 17041943, 18804553, 18941476, 21465647, 23141775, 24013081, 24039984, 25801282, 9285800, 9328482, 9529365"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4284-OMIM_601544-HP_0000006-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0011103"	"autosomal dominant nonsyndromic hearing loss 3A"	"OMIM:601544"	"Deafness, autosomal dominant 3A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4284"	"GJB2"	"OMIM:601544"	"autosomal dominant nonsyndromic hearing loss 3A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-06 18:26:28"	""	""	"10807696, 11493646, 12064630, 20096356, 20442751, 21040787, 21465647, 21484990, 9620796"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB20Deafness02"	"2023-11-30"
"GENCC_000106-HGNC_4284-OMIM_149200-HP_0000006-GENCC_100002"	"HGNC:4284"	"GJB2"	"MONDO:0007866"	"Bart-Pumphrey syndrome"	"OMIM:149200"	"Bart-Pumphrey syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4284"	"GJB2"	"OMIM:149200"	"Bart-Pumphrey syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-22 08:55:00"	""	""	"10369869, 10633135, 11493646, 11912510, 15482471, 17381453, 17428836, 20096356, 21040787, 22547955, 23447037, 23797420, 26777423, 35396755"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB20syn0deafness"	"2023-11-30"
"GENCC_000106-HGNC_4285-OMIM_612644-HP_0000005-GENCC_100004"	"HGNC:4285"	"GJB3"	"MONDO:0012976"	"autosomal dominant nonsyndromic hearing loss 2B"	"OMIM:612644"	"Deafness, autosomal dominant 2B, with or without peripheral neuropathy"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4285"	"GJB3"	"OMIM:612644"	"autosomal dominant nonsyndromic hearing loss 2B"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"10587579, 19050930, 19744334, 21204020, 23638949, 25342930, 31541171, 9843210"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB30Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4285-OMIM_133200-HP_0000006-GENCC_100002"	"HGNC:4285"	"GJB3"	"MONDO:0033010"	"erythrokeratodermia variabilis et progressiva 1"	"OMIM:133200"	"Erythrokeratodermia variabilis et progressiva 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4285"	"GJB3"	"OMIM:133200"	"erythrokeratodermia variabilis et progressiva 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-05-28 12:19:22"	""	""	"10594760, 10798362, 12165562, 16297190, 22393412, 23442023, 26945536, 9843209"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB30Erythrokeratode"	"2023-11-30"
"GENCC_000106-HGNC_4285-OMIM_133200-HP_0000007-GENCC_100002"	"HGNC:4285"	"GJB3"	"MONDO:0033010"	"erythrokeratodermia variabilis et progressiva 1"	"OMIM:133200"	"Erythrokeratodermia variabilis et progressiva 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4285"	"GJB3"	"OMIM:133200"	"erythrokeratodermia variabilis et progressiva 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-05-28 12:19:22"	""	""	"12019212, 15086573"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB30Erythrokeratode02"	"2023-11-30"
"GENCC_000106-HGNC_4286-OMIM_617524-HP_0000006-GENCC_100002"	"HGNC:4286"	"GJB4"	"MONDO:0033012"	"erythrokeratodermia variabilis et progressiva 2"	"OMIM:617524"	"Erythrokeratodermia variabilis et progressiva 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4286"	"GJB4"	"OMIM:617524"	"erythrokeratodermia variabilis et progressiva 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:20"	""	""	"12648223, 19291775, 26826093"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB40Erythrok"	"2023-11-30"
"GENCC_000106-HGNC_4288-OMIM_612645-HP_0000007-GENCC_100004"	"HGNC:4288"	"GJB6"	"MONDO:0012977"	"autosomal recessive nonsyndromic hearing loss 1B"	"OMIM:612645"	"Deafness, autosomal recessive 1B"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4288"	"GJB6"	"OMIM:612645"	"autosomal recessive nonsyndromic hearing loss 1B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 09:27:32"	""	""	"10471490, 11668644, 11807148, 11896458, 12419304, 12490528, 15150777, 15994881, 17259707, 21465647, 21731760, 21738759, 22617145, 23553242, 28501645, 30894701, 8663509"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB60Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4288-OMIM_612643-HP_0000006-GENCC_100004"	"HGNC:4288"	"GJB6"	"MONDO:0012975"	"autosomal dominant nonsyndromic hearing loss 3B"	"OMIM:612643"	"Deafness, autosomal dominant 3B"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4288"	"GJB6"	"OMIM:612643"	"autosomal dominant nonsyndromic hearing loss 3B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-10-26 10:08:13"	""	""	"10471490, 12419304, 16217030, 17259707, 24522190"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB60Deafness02"	"2023-11-30"
"GENCC_000106-HGNC_4288-OMIM_129500-HP_0000006-GENCC_100002"	"HGNC:4288"	"GJB6"	"MONDO:0007510"	"Clouston syndrome"	"OMIM:129500"	"Ectodermal dysplasia 2, Clouston type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4288"	"GJB6"	"OMIM:129500"	"Clouston syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 15:03:37"	""	""	"11017065, 12419304, 15213106, 15769851, 8752831"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJB60EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_17494-OMIM_613480-HP_0000006-GENCC_100002"	"HGNC:17494"	"GJC2"	"MONDO:0013278"	"lymphatic malformation 3"	"OMIM:613480"	"Lymphatic malformation 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17494"	"GJC2"	"OMIM:613480"	"lymphatic malformation 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:20"	""	""	"20537300, 21266381"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJC20Lymph"	"2023-11-30"
"GENCC_000106-HGNC_17494-OMIM_608804-HP_0000007-GENCC_100002"	"HGNC:17494"	"GJC2"	"MONDO:0012125"	"hypomyelinating leukodystrophy 2"	"OMIM:608804"	"Leukodystrophy, hypomyelinating, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17494"	"GJC2"	"OMIM:608804"	"hypomyelinating leukodystrophy 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 15:02:55"	""	""	"18094336, 26354221"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJC20PMD0Pelizaeus"	"2023-11-30"
"GENCC_000106-HGNC_17494-OMIM_613206-HP_0000007-GENCC_100002"	"HGNC:17494"	"GJC2"	"MONDO:0013179"	"hereditary spastic paraplegia 44"	"OMIM:613206"	"?Spastic paraplegia 44, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17494"	"GJC2"	"OMIM:613206"	"hereditary spastic paraplegia 44"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"19056803, 31431325"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GJC20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_4298-OMIM_230650-HP_0000007-GENCC_100002"	"HGNC:4298"	"GLB1"	"MONDO:0009262"	"GM1 gangliosidosis type 3"	"OMIM:230650"	"GM1-gangliosidosis, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4298"	"GLB1"	"OMIM:230650"	"GM1 gangliosidosis type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"1353343, 18524657, 1907800, 1909089, 20175788, 8198123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLB10GM1"	"2023-11-30"
"GENCC_000106-HGNC_4298-OMIM_253010-HP_0000007-GENCC_100002"	"HGNC:4298"	"GLB1"	"MONDO:0009660"	"mucopolysaccharidosis type 4B"	"OMIM:253010"	"Mucopolysaccharidosis type IVB (Morquio)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4298"	"GLB1"	"OMIM:253010"	"mucopolysaccharidosis type 4B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-17 16:08:03"	""	""	"11511921, 169414475, 16941474, 1928092, 21497194, 22371915, 666666666666666"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLB10MPS0IV"	"2023-11-30"
"GENCC_000106-HGNC_29514-OMIM_617194-HP_0000007-GENCC_100002"	"HGNC:29514"	"GLDN"	"MONDO:0014965"	"lethal congenital contracture syndrome 11"	"OMIM:617194"	"Lethal congenital contracture syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29514"	"GLDN"	"OMIM:617194"	"lethal congenital contracture syndrome 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-31 11:16:55"	""	""	"27616481, 28726266"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLDN0LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_4431-OMIM_614018-HP_0000007-GENCC_100002"	"HGNC:4431"	"GOSR2"	"MONDO:0013526"	"progressive myoclonic epilepsy type 6"	"OMIM:614018"	"Epilepsy, progressive myoclonic 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4431"	"GOSR2"	"OMIM:614018"	"Epilepsy, progressive myoclonic 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-30 21:05:43"	""	""	"21549339, 23449775, 29855340, 31216804"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GOSR20EPM1"	"2023-11-30"
"GENCC_000106-HGNC_9460-OMIM_614024-HP_0000005-GENCC_100004"	"HGNC:9460"	"PROZ"	"MONDO:0013532"	"protein Z deficiency"	"OMIM:614024"	"[Protein Z deficiency]"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9460"	"PROZ"	"OMIM:614024"	"[Protein Z deficiency]"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-03 13:00:59"	""	""	"15626740, 15638861, 16194214, 18462626, 22353194, 23919930, 26645620, 29746949, 32721632"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROZ0PROZDef"	"2023-11-30"
"GENCC_000106-HGNC_60-OMIM_614050-HP_0000005-GENCC_100004"	"HGNC:60"	"ABCC9"	"MONDO:0013545"	"atrial fibrillation, familial, 12"	"OMIM:614050"	"?Atrial fibrillation, familial, 12"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:60"	"ABCC9"	"OMIM:614050"	"?Atrial fibrillation, familial, 12"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"17245405"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC90Afib"	"2023-11-30"
"GENCC_000106-HGNC_4318-OMIM_615849-HP_0000006-GENCC_100002"	"HGNC:4318"	"GLI2"	"MONDO:0014369"	"postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	"OMIM:615849"	"Culler-Jones syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4318"	"GLI2"	"OMIM:615849"	"postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-22 12:20:31"	""	""	"14581620, 15994174, 20685856, 21204792, 24744436, 6726521, 9006072"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLI20CullerJones"	"2023-11-30"
"GENCC_000106-HGNC_4318-OMIM_610829-HP_0000006-GENCC_100002"	"HGNC:4318"	"GLI2"	"MONDO:0012563"	"holoprosencephaly 9"	"OMIM:610829"	"Holoprosencephaly 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4318"	"GLI2"	"OMIM:610829"	"holoprosencephaly 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:36:00"	""	""	"14581620, 20157829, 20685856, 21204792, 24744436, 25974718, 9006072"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLI20Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_4319-OMIM_175700-HP_0000006-GENCC_100002"	"HGNC:4319"	"GLI3"	"MONDO:0008287"	"Greig cephalopolysyndactyly syndrome"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4319"	"GLI3"	"OMIM:175700"	"Greig cephalopolysyndactyly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-27 12:02:26"	""	""	"15739154, 24736735, 8387379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLI30Greig"	"2023-11-30"
"GENCC_000106-HGNC_4319-OMIM_146510-HP_0000006-GENCC_100002"	"HGNC:4319"	"GLI3"	"MONDO:0007804"	"Pallister-Hall syndrome"	"OMIM:146510"	"Pallister-Hall syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4319"	"GLI3"	"OMIM:146510"	"Pallister-Hall syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:44:20"	""	""	"11978771, 15739154, 24736735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLI30PallisterHall"	"2023-11-30"
"GENCC_000106-HGNC_4319-OMIM_174200-HP_0000006-GENCC_100002"	"HGNC:4319"	"GLI3"	"MONDO:0008266"	"polydactyly, postaxial, type A1"	"OMIM:174200"	"Polydactyly, postaxial, types A1 and B"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4319"	"GLI3"	"OMIM:174200"	"polydactyly, postaxial, type A1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 14:46:27"	""	""	"10441570, 18000979, 25267529"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLI30Polydactyly"	"2023-11-30"
"GENCC_000106-HGNC_29450-OMIM_611498-HP_0000007-GENCC_100002"	"HGNC:29450"	"GLIS2"	"MONDO:0012680"	"nephronophthisis 7"	"OMIM:611498"	"Nephronophthisis 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29450"	"GLIS2"	"OMIM:611498"	"nephronophthisis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:54"	""	""	"17618285"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLIS20Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_28510-OMIM_610199-HP_0000007-GENCC_100002"	"HGNC:28510"	"GLIS3"	"MONDO:0012436"	"neonatal diabetes mellitus with congenital hypothyroidism"	"OMIM:610199"	"Diabetes mellitus, neonatal, with congenital hypothyroidism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28510"	"GLIS3"	"OMIM:610199"	"neonatal diabetes mellitus with congenital hypothyroidism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 22:31:13"	""	""	"12966531, 16715098, 18263616, 19481545, 24411943, 26259131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLIS30NDH"	"2023-11-30"
"GENCC_000106-HGNC_4326-OMIM_149400-HP_0000007-GENCC_100002"	"HGNC:4326"	"GLRA1"	"MONDO:0007868"	"hyperekplexia 1"	"OMIM:149400"	"Hyperekplexia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4326"	"GLRA1"	"OMIM:149400"	"hyperekplexia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 14:01:54"	""	""	"11702206, 15771552, 20301437, 20631190, 24108130"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLRA10Hyperekplexia"	"2023-11-30"
"GENCC_000106-HGNC_4326-OMIM_149400-HP_0000006-GENCC_100002"	"HGNC:4326"	"GLRA1"	"MONDO:0007868"	"hyperekplexia 1"	"OMIM:149400"	"Hyperekplexia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4326"	"GLRA1"	"OMIM:149400"	"hyperekplexia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 14:01:54"	""	""	"11389164, 20301437, 20631190, 7925268, 9920650"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLRA10Hyperekplexia02"	"2023-11-30"
"GENCC_000106-HGNC_4329-OMIM_614619-HP_0000007-GENCC_100002"	"HGNC:4329"	"GLRB"	"MONDO:0013828"	"hyperekplexia 2"	"OMIM:614619"	"Hyperekplexia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4329"	"GLRB"	"OMIM:614619"	"hyperekplexia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-25 14:03:55"	""	""	"20301437, 23182654, 23184146, 7920630"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLRB0Hyperekplexia"	"2023-11-30"
"GENCC_000106-HGNC_20134-OMIM_616860-HP_0000007-GENCC_100002"	"HGNC:20134"	"GLRX5"	"MONDO:0014804"	"sideroblastic anemia 3"	"OMIM:616860"	"Anemia, sideroblastic, 3, pyridoxine-refractory"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20134"	"GLRX5"	"OMIM:616860"	"sideroblastic anemia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-29 10:19:21"	""	""	"17485548, 24334290, 25342667, 26100117, 30660387"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLRX50ConSidAnem"	"2023-11-30"
"GENCC_000106-HGNC_20134-OMIM_616859-HP_0000007-GENCC_100002"	"HGNC:20134"	"GLRX5"	"MONDO:0014803"	"spasticity-ataxia-gait anomalies syndrome"	"OMIM:616859"	"Spasticity, childhood-onset, with hyperglycinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20134"	"GLRX5"	"OMIM:616859"	"spasticity-ataxia-gait anomalies syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 13:19:13"	""	""	"24334290, 33813722, 34054912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLRX50GlyEnceph"	"2023-11-30"
"GENCC_000106-HGNC_4331-OMIM_618412-HP_0000007-GENCC_100002"	"HGNC:4331"	"GLS"	"MONDO:0032733"	"global developmental delay, progressive ataxia, and elevated glutamine"	"OMIM:618412"	"Global developmental delay, progressive ataxia, and elevated glutamine"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4331"	"GLS"	"OMIM:618412"	"Global developmental delay, progressive ataxia, and elevated glutamine"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:13"	""	""	"29302074, 29468182, 30575854, 30970188"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLS0GLSdef"	"2023-11-30"
"GENCC_000106-HGNC_4331-OMIM_618339-HP_0000005-GENCC_100004"	"HGNC:4331"	"GLS"	"MONDO:0032685"	"infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"	"OMIM:618339"	"CASGID syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4331"	"GLS"	"OMIM:618339"	"?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"26193622, 30239721, 31552105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLS0GLSrel"	"2023-11-30"
"GENCC_000106-HGNC_24247-OMIM_220120-HP_0000007-GENCC_100002"	"HGNC:24247"	"GLYCTK"	"MONDO:0009070"	"D-glyceric aciduria"	"OMIM:220120"	"D-glyceric aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24247"	"GLYCTK"	"OMIM:220120"	"D-glyceric aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"20949620, 28190537, 28462797, 30637540"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLYCTK0D-Glycer"	"2023-11-30"
"GENCC_000106-HGNC_22932-OMIM_615352-HP_0000007-GENCC_100002"	"HGNC:22932"	"GMPPB"	"MONDO:0014142"	"autosomal recessive limb-girdle muscular dystrophy type 2T"	"OMIM:615352"	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22932"	"GMPPB"	"OMIM:615352"	"autosomal recessive limb-girdle muscular dystrophy type 2T"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 21:58:10"	""	""	"23768512, 26310427, 29437916, 30257713"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GMPPB0ADG"	"2023-11-30"
"GENCC_000106-HGNC_22932-OMIM_615350-HP_0000007-GENCC_100002"	"HGNC:22932"	"GMPPB"	"MONDO:0014140"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14"	"OMIM:615350"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22932"	"GMPPB"	"OMIM:615350"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:19:40"	""	""	"26133662, 27874200, 28433477"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GMPPB0CMS"	"2023-11-30"
"GENCC_000106-HGNC_4379-OMIM_615361-HP_0000006-GENCC_100002"	"HGNC:4379"	"GNA11"	"MONDO:0014146"	"autosomal dominant hypocalcemia 2"	"OMIM:615361"	"Hypocalcemia, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4379"	"GNA11"	"OMIM:615361"	"autosomal dominant hypocalcemia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-20 00:57:10"	""	""	"23222959, 23802516, 23802536, 24823460, 26818911, 26963950, 28194446, 28833550, 31820785"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNA110Hypocalc"	"2023-11-30"
"GENCC_000106-HGNC_4384-OMIM_619854-HP_0000006-GENCC_100002"	"HGNC:4384"	"GNAI1"	"MONDO:0859243"	"neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	"OMIM:619854"	"Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4384"	"GNAI1"	"OMIM:619854"	"Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-05-03 13:36:45"	""	""	"28135719, 31164858, 33473207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAI10GNAI1rel"	"2023-11-30"
"GENCC_000106-HGNC_4387-OMIM_602483-HP_0000006-GENCC_100002"	"HGNC:4387"	"GNAI3"	"MONDO:0011234"	"auriculocondylar syndrome 1"	"OMIM:602483"	"Auriculocondylar syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4387"	"GNAI3"	"OMIM:602483"	"auriculocondylar syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 13:34:53"	""	""	"22560091, 23315542, 25026904"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAI30Auriculo"	"2023-11-30"
"GENCC_000106-HGNC_4389-OMIM_615473-HP_0000006-GENCC_100002"	"HGNC:4389"	"GNAO1"	"MONDO:0014199"	"developmental and epileptic encephalopathy, 17"	"OMIM:615473"	"Developmental and epileptic encephalopathy 17"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4389"	"GNAO1"	"OMIM:615473"	"developmental and epileptic encephalopathy, 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-12 21:35:39"	""	""	"23993195, 28357411, 28747448, 9050846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAO10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_2961-OMIM_614228-HP_0000006-GENCC_100002"	"HGNC:2961"	"DYNC1H1"	"MONDO:0013644"	"Charcot-Marie-Tooth disease axonal type 2O"	"OMIM:614228"	"Charcot-Marie-Tooth disease, axonal, type 2O"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2961"	"DYNC1H1"	"OMIM:614228"	"Charcot-Marie-Tooth disease, axonal, type 2O"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-17 09:53:04"	""	""	"20697106, 206987106, 21820100, 218820100, 22349677, 22459677, 22847149, 25025039, 26392352, 28196890, 29243232, 32656949"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DYNC1H10CMT"	"2023-11-30"
"GENCC_000106-HGNC_4390-OMIM_185300-HP_0000006-GENCC_100002"	"HGNC:4390"	"GNAQ"	"MONDO:0008501"	"Sturge-Weber syndrome"	"OMIM:185300"	"Sturge-Weber syndrome, somatic, mosaic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4390"	"GNAQ"	"OMIM:185300"	"Sturge-Weber syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-18 07:21:38"	""	""	"23656586, 26944241, 28454448"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAQ0SturgeWeberSyn"	"2023-11-30"
"GENCC_000106-HGNC_4392-OMIM_174800-HP_0000006-GENCC_100002"	"HGNC:4392"	"GNAS"	"MONDO:0018919"	"McCune-Albright syndrome"	"OMIM:174800"	"McCune-Albright syndrome, somatic mosaic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4392"	"GNAS"	"OMIM:174800"	"McCune-Albright syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:44:20"	""	""	"15126527, 17493233, 2549426, 25719192, 274564"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAS0MAS"	"2023-11-30"
"GENCC_000106-HGNC_4392-OMIM_166350-HP_0000006-GENCC_100002"	"HGNC:4392"	"GNAS"	"MONDO:0008153"	"progressive osseous heteroplasia"	"OMIM:166350"	"Osseous heteroplasia, progressive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4392"	"GNAS"	"OMIM:166350"	"progressive osseous heteroplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 18:39:27"	""	""	"11784876, 20427508, 23796510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAS0OsseousHetero"	"2023-11-30"
"GENCC_000106-HGNC_4392-OMIM_103580-HP_0000006-GENCC_100002"	"HGNC:4392"	"GNAS"	"MONDO:0007078"	"pseudohypoparathyroidism type 1A"	"OMIM:103580"	"Pseudohypoparathyroidism Ia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4392"	"GNAS"	"OMIM:103580"	"Pseudohypoparathyroidism type 1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-23 11:08:33"	""	""	"21488135, 23281139, 25044890, 25802881"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAS0PHP"	"2023-11-30"
"GENCC_000106-HGNC_4392-OMIM_612463-HP_0000006-GENCC_100002"	"HGNC:4392"	"GNAS"	"MONDO:0012912"	"pseudopseudohypoparathyroidism"	"OMIM:612463"	"Pseudopseudohypoparathyroidism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4392"	"GNAS"	"OMIM:612463"	"pseudopseudohypoparathyroidism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:11"	""	""	"20427508, 23281139, 23884777, 24127307, 25802881"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAS0PseudoPHP"	"2023-11-30"
"GENCC_000106-HGNC_24872-OMIM_603233-HP_0000005-GENCC_100004"	"HGNC:24872"	"GNAS-AS1"	"MONDO:0011301"	"pseudohypoparathyroidism type 1B"	"OMIM:603233"	"Pseudohypoparathyroidism Ib"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24872"	"GNAS-AS1"	"OMIM:603233"	"pseudohypoparathyroidism type 1B"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-21 08:48:42"	""	""	"15592469, 22378814"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAS-AS10Pseudohy"	"2023-11-30"
"GENCC_000106-HGNC_4393-OMIM_610444-HP_0000006-GENCC_100002"	"HGNC:4393"	"GNAT1"	"MONDO:0012497"	"congenital stationary night blindness autosomal dominant 3"	"OMIM:610444"	"Night blindness, congenital stationary, autosomal dominant 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4393"	"GNAT1"	"OMIM:610444"	"congenital stationary night blindness autosomal dominant 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:20"	""	""	"11095744, 16793893, 17584859, 22190596, 26472407, 29850563, 30051303, 8673138"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAT10NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_4398-OMIM_619464-HP_0000005-GENCC_100004"	"HGNC:4398"	"GNB2"	"MONDO:0859173"	"sick sinus syndrome 4"	"OMIM:619464"	"?Sick sinus syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4398"	"GNB2"	"OMIM:619464"	"?Sick sinus syndrome 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-03 09:23:21"	""	""	"28219978"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNB20Atriovent block"	"2023-11-30"
"GENCC_000106-HGNC_4398-OMIM_619503-HP_0000006-GENCC_100002"	"HGNC:4398"	"GNB2"	"MONDO:0859185"	"neurodevelopmental disorder with hypotonia and dysmorphic facies"	"OMIM:619503"	"Neurodevelopmental disorder with hypotonia and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4398"	"GNB2"	"OMIM:619503"	"Neurodevelopmental disorder with hypotonia and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-12 13:46:48"	""	""	"31698099, 34183358"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNB20ID"	"2023-11-30"
"GENCC_000106-HGNC_4400-OMIM_617024-HP_0000005-GENCC_100004"	"HGNC:4400"	"GNB3"	"MONDO:0014872"	"congenital stationary night blindness 1H"	"OMIM:617024"	"Night blindness, congenital stationary, type 1H"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4400"	"GNB3"	"OMIM:617024"	"congenital stationary night blindness 1H"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:00"	""	""	"27063057, 27281386"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNB30NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_17928-OMIM_614324-HP_0000007-GENCC_100002"	"HGNC:17928"	"PSMC3IP"	"MONDO:0013689"	"ovarian dysgenesis 3"	"OMIM:614324"	"Ovarian dysgenesis 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17928"	"PSMC3IP"	"OMIM:614324"	"Ovarian dysgenesis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-17 14:31:55"	""	""	"14667414, 21963259, 251426, 25227694, 29240891, 30406445, 31042289, 9240891"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSMC3IP0POI"	"2023-11-30"
"GENCC_000106-HGNC_23657-OMIM_605820-HP_0000007-GENCC_100002"	"HGNC:23657"	"GNE"	"MONDO:0011603"	"GNE myopathy"	"OMIM:605820"	"Nonaka myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23657"	"GNE"	"OMIM:605820"	"GNE myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 17:39:04"	""	""	"10330343, 11528398, 15136692, 17704511, 20301343, 24027297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNE0DistalMyop"	"2023-11-30"
"GENCC_000106-HGNC_23657-OMIM_269921-HP_0000006-GENCC_100002"	"HGNC:23657"	"GNE"	"MONDO:0010028"	"sialuria"	"OMIM:269921"	"Sialuria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23657"	"GNE"	"OMIM:269921"	"sialuria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:11"	""	""	"10330343, 10356312, 17706199, 19917666"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNE0Sialuria"	"2023-11-30"
"GENCC_000106-HGNC_4415-OMIM_606664-HP_0000005-GENCC_100004"	"HGNC:4415"	"GNMT"	"MONDO:0011698"	"glycine N-methyltransferase deficiency"	"OMIM:606664"	"Glycine N-methyltransferase deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4415"	"GNMT"	"OMIM:606664"	"glycine N-methyltransferase deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"11810299, 14739680, 17937387, 26990548, 27207470"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNMT0GlyNMethyl"	"2023-11-30"
"GENCC_000106-HGNC_7549-OMIM_614335-HP_0000006-GENCC_100002"	"HGNC:7549"	"MYBPC1"	"MONDO:0013698"	"arthrogryposis, distal, type 1B"	"OMIM:614335"	"Arthrogryposis, distal, type 1B"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7549"	"MYBPC1"	"OMIM:614335"	"Arthrogryposis, distal, type 1B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-26 13:05:28"	""	""	"20045868, 23657818, 23873045, 25679999"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYBPC10Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_29670-OMIM_252500-HP_0000007-GENCC_100002"	"HGNC:29670"	"GNPTAB"	"MONDO:0009650"	"mucolipidosis type II"	"OMIM:252500"	"Mucolipidosis II alpha/beta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29670"	"GNPTAB"	"OMIM:252500"	"mucolipidosis type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 11:13:47"	""	""	"121350, 15633164, 19261645, 19617216, 19634183, 25107912, 251330, 282744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNPTAB0Mucolipidosis2"	"2023-11-30"
"GENCC_000106-HGNC_4419-OMIM_614841-HP_0000007-GENCC_100002"	"HGNC:4419"	"GNRH1"	"MONDO:0013914"	"hypogonadotropic hypogonadism 12 with or without anosmia"	"OMIM:614841"	"?Hypogonadotropic hypogonadism 12 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4419"	"GNRH1"	"OMIM:614841"	"?Hypogonadotropic hypogonadism 12 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-13 02:20:06"	""	""	"19535795, 19567835, 26595427, 27094476, 29419413"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNRH10IHH"	"2023-11-30"
"GENCC_000106-HGNC_25135-OMIM_614436-HP_0000007-GENCC_100002"	"HGNC:25135"	"LRSAM1"	"MONDO:0013753"	"Charcot-Marie-Tooth disease axonal type 2P"	"OMIM:614436"	"Charcot-Marie-Tooth disease, axonal, type 2P"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25135"	"LRSAM1"	"OMIM:614436"	"Charcot-Marie-Tooth disease, axonal, type 2P"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-19 14:08:46"	""	""	"20865121, 33414056"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRSAM10CMT"	"2023-11-30"
"GENCC_000106-HGNC_25135-OMIM_614436-HP_0000006-GENCC_100002"	"HGNC:25135"	"LRSAM1"	"MONDO:0013753"	"Charcot-Marie-Tooth disease axonal type 2P"	"OMIM:614436"	"Charcot-Marie-Tooth disease, axonal, type 2P"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25135"	"LRSAM1"	"OMIM:614436"	"Charcot-Marie-Tooth disease, axonal, type 2P"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-19 14:08:46"	""	""	"20865121, 22012984, 22781092, 24894446, 2489446, 26752306, 28335037"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRSAM10CMT02"	"2023-11-30"
"GENCC_000106-HGNC_23791-OMIM_614455-HP_0000006-GENCC_100002"	"HGNC:23791"	"INF2"	"MONDO:0013758"	"Charcot-Marie-Tooth disease dominant intermediate E"	"OMIM:614455"	"Charcot-Marie-Tooth disease, dominant intermediate E"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23791"	"INF2"	"OMIM:614455"	"Charcot-Marie-Tooth disease, dominant intermediate E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 17:08:10"	""	""	"22187985"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INF20CMT"	"2023-11-30"
"GENCC_000106-HGNC_4439-OMIM_231200-HP_0000007-GENCC_100002"	"HGNC:4439"	"GP1BA"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"OMIM:231200"	"Bernard-Soulier syndrome, type B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4439"	"GP1BA"	"OMIM:231200"	"Bernard-Soulier syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:08"	""	""	"17075060, 17083647, 17109744, 23300803, 23414566, 23995613, 24934643, 26044173"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GP1BA0BernardSoulier"	"2023-11-30"
"GENCC_000106-HGNC_4440-OMIM_231200-HP_0000007-GENCC_100002"	"HGNC:4440"	"GP1BB"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"OMIM:231200"	"Bernard-Soulier syndrome, type B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4440"	"GP1BB"	"OMIM:231200"	"Bernard-Soulier syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-10 14:38:10"	""	""	"10887115, 12447957, 15213102, 18825380, 19484238, 23995613"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GP1BB0BernardSoulier"	"2023-11-30"
"GENCC_000106-HGNC_4446-OMIM_617810-HP_0000007-GENCC_100002"	"HGNC:4446"	"GPAA1"	"MONDO:0060627"	"glycosylphosphatidylinositol biosynthesis defect 15"	"OMIM:617810"	"Glycosylphosphatidylinositol biosynthesis defect 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4446"	"GPAA1"	"OMIM:617810"	"glycosylphosphatidylinositol biosynthesis defect 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-31 13:57:31"	""	""	"29100095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPAA10GlycophosDef"	"2023-11-30"
"GENCC_000106-HGNC_4452-OMIM_301026-HP_0001417-GENCC_100002"	"HGNC:4452"	"GPC4"	"MONDO:0009720"	"Keipert syndrome"	"OMIM:301026"	"Keipert syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4452"	"GPC4"	"OMIM:301026"	"Keipert syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-23 23:06:53"	""	""	"30982611"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPC40KeipertSyn"	"2023-11-30"
"GENCC_000106-HGNC_4454-OMIM_258315-HP_0000007-GENCC_100002"	"HGNC:4454"	"GPC6"	"MONDO:0009779"	"autosomal recessive omodysplasia"	"OMIM:258315"	"Omodysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4454"	"GPC6"	"OMIM:258315"	"autosomal recessive omodysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-26 15:37:16"	""	""	"119150, 19481194, 250308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPC60Omodysplasia"	"2023-11-30"
"GENCC_000106-HGNC_28956-OMIM_611777-HP_0000006-GENCC_100004"	"HGNC:28956"	"GPD1L"	"MONDO:0012728"	"Brugada syndrome 2"	"OMIM:611777"	"Brugada syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28956"	"GPD1L"	"OMIM:611777"	"Brugada syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-09 08:44:39"	""	""	"17967976, 17967977, 22584458, 22789973, 28837624, 29077258, 29247119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPD1L0Brugada"	"2023-11-30"
"GENCC_000106-HGNC_24519-OMIM_614815-HP_0000007-GENCC_100002"	"HGNC:24519"	"TCTN3"	"MONDO:0013896"	"Joubert syndrome 18"	"OMIM:614815"	"Joubert syndrome 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24519"	"TCTN3"	"OMIM:614815"	"Joubert syndrome 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"22883145, 25118024, 2692869, 27081510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCTN30Joubert"	"2023-11-30"
"GENCC_000106-HGNC_26348-OMIM_614822-HP_0000006-GENCC_100004"	"HGNC:26348"	"SEPTIN12"	"MONDO:0013901"	"spermatogenic failure 10"	"OMIM:614822"	"Spermatogenic failure 10"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26348"	"SEPTIN12"	"OMIM:614822"	"Spermatogenic failure 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"20801438, 22116646, 22275165, 30488758, 31515488, 32242295"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEPT120Spermato08"	"2023-11-30"
"GENCC_000106-HGNC_4539-OMIM_616939-HP_0000005-GENCC_100004"	"HGNC:4539"	"GPR88"	"MONDO:0014839"	"chorea, childhood-onset, with psychomotor retardation"	"OMIM:616939"	"?Chorea, childhood-onset, with psychomotor retardation"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4539"	"GPR88"	"OMIM:616939"	"chorea, childhood-onset, with psychomotor retardation"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-07-26 14:36:09"	""	""	"26188600, 27123486"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPR880GPR88rel"	"2023-11-30"
"GENCC_000106-HGNC_11521-OMIM_614839-HP_0000007-GENCC_100002"	"HGNC:11521"	"TAC3"	"MONDO:0013912"	"hypogonadotropic hypogonadism 10 with or without anosmia"	"OMIM:614839"	"Hypogonadotropic hypogonadism 10 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11521"	"TAC3"	"OMIM:614839"	"Hypogonadotropic hypogonadism 10 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"20194706, 20332248, 250558, 25077900, 282832, 282842, 29419413, 3712828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAC30IHH"	"2023-11-30"
"GENCC_000106-HGNC_13308-OMIM_604004-HP_0000006-GENCC_100002"	"HGNC:13308"	"GPRC5B"	"MONDO:0024555"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"OMIM:604004"	"Megalencephalic leukoencephalopathy with subcortical cysts 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13308"	"GPRC5B"	"OMIM:604004"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 15:19:06"	""	""	"37143309"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPRC5B0MLC"	"2023-11-30"
"GENCC_000106-HGNC_4556-OMIM_250220-HP_0000007-GENCC_100002"	"HGNC:4556"	"GPX4"	"MONDO:0009593"	"spondylometaphyseal dysplasia, Sedaghatian type"	"OMIM:250220"	"Spondylometaphyseal dysplasia, Sedaghatian type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4556"	"GPX4"	"OMIM:250220"	"spondylometaphyseal dysplasia, Sedaghatian type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-31 09:35:49"	""	""	"24706940, 25313597, 34931062"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GPX40Spondylo05"	"2023-11-30"
"GENCC_000106-HGNC_4562-OMIM_618456-HP_0000005-GENCC_100004"	"HGNC:4562"	"GRAP"	"MONDO:0032761"	"hearing loss, autosomal recessive 114"	"OMIM:618456"	"Deafness, autosomal recessive 114"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4562"	"GRAP"	"OMIM:618456"	"hearing loss, autosomal recessive 114"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-06-06 08:03:48"	""	""	"30610177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRAP0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_31042-OMIM_617805-HP_0000006-GENCC_100002"	"HGNC:31042"	"GREB1L"	"MONDO:0024520"	"renal hypodysplasia/aplasia 3"	"OMIM:617805"	"Renal hypodysplasia/aplasia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31042"	"GREB1L"	"OMIM:617805"	"renal hypodysplasia/aplasia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-22 22:17:51"	""	""	"29100090, 29100091, 29261186"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GREB1L0GREB1Lrel"	"2023-11-30"
"GENCC_000106-HGNC_29298-OMIM_614852-HP_0000007-GENCC_100002"	"HGNC:29298"	"CEP152"	"MONDO:0013923"	"microcephaly 9, primary, autosomal recessive"	"OMIM:614852"	"Microcephaly 9, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29298"	"CEP152"	"OMIM:614852"	"Microcephaly 9, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"20598275, 21131973"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP1520Seckel"	"2023-11-30"
"GENCC_000106-HGNC_2799-OMIM_608641-HP_0000006-GENCC_100002"	"HGNC:2799"	"GRHL2"	"MONDO:0012083"	"autosomal dominant nonsyndromic hearing loss 28"	"OMIM:608641"	"Deafness, autosomal dominant 28"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2799"	"GRHL2"	"OMIM:608641"	"autosomal dominant nonsyndromic hearing loss 28"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:57:48"	""	""	"12393799, 23813623, 27911912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRHL20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4571-OMIM_619927-HP_0000006-GENCC_100002"	"HGNC:4571"	"GRIA1"	"MONDO:0030964"	"intellectual developmental disorder, autosomal dominant 67"	"OMIM:619927"	"Intellectual developmental disorder, autosomal dominant 67"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4571"	"GRIA1"	"OMIM:619927"	"Intellectual developmental disorder, autosomal dominant 67"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-04 11:54:51"	""	""	"35675825"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIA10GRIA1dev"	"2023-11-30"
"GENCC_000106-HGNC_4571-OMIM_619931-HP_0000005-GENCC_100004"	"HGNC:4571"	"GRIA1"	"MONDO:0030968"	"intellectual developmental disorder, autosomal recessive 76"	"OMIM:619931"	"?Intellectual developmental disorder, autosomal recessive 76"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4571"	"GRIA1"	"OMIM:619931"	"intellectual developmental disorder, autosomal recessive 76"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-04 11:55:49"	""	""	"23033978"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIA10ID"	"2023-11-30"
"GENCC_000106-HGNC_4573-OMIM_300699-HP_0001417-GENCC_100002"	"HGNC:4573"	"GRIA3"	"MONDO:0010402"	"syndromic X-linked intellectual disability 94"	"OMIM:300699"	"Intellectual developmental disorder, X-linked syndromic, Wu type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4573"	"GRIA3"	"OMIM:300699"	"syndromic X-linked intellectual disability 94"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-22 12:26:37"	""	""	"17989220, 25644381, 29016847"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIA30XLID"	"2023-11-30"
"GENCC_000106-HGNC_4576-OMIM_616204-HP_0000007-GENCC_100002"	"HGNC:4576"	"GRID2"	"MONDO:0014530"	"autosomal recessive spinocerebellar ataxia 18"	"OMIM:616204"	"Spinocerebellar ataxia, autosomal recessive 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4576"	"GRID2"	"OMIM:616204"	"Spinocerebellar ataxia, autosomal recessive 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 19:55:16"	""	""	"24078737, 25841024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRID20SCAR"	"2023-11-30"
"GENCC_000106-HGNC_4580-OMIM_619580-HP_0000006-GENCC_100002"	"HGNC:4580"	"GRIK2"	"MONDO:0859201"	"neurodevelopmental disorder with impaired language and ataxia and with or without seizures"	"OMIM:619580"	"Neurodevelopmental disorder with impaired language and ataxia and with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4580"	"GRIK2"	"OMIM:619580"	"Neurodevelopmental disorder with impaired language and ataxia and with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 14:20:11"	""	""	"34375587"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIK20ID02"	"2023-11-30"
"GENCC_000106-HGNC_4584-OMIM_614254-HP_0000006-GENCC_100002"	"HGNC:4584"	"GRIN1"	"MONDO:0013655"	"intellectual disability, autosomal dominant 8"	"OMIM:614254"	"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4584"	"GRIN1"	"OMIM:614254"	"intellectual disability, autosomal dominant 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-14 18:10:14"	""	""	"19142228, 21376300, 25864721, 27164704, 28228639"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIN10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_22965-OMIM_614872-HP_0000007-GENCC_100002"	"HGNC:22965"	"PEX26"	"MONDO:0013938"	"peroxisome biogenesis disorder 7A (Zellweger)"	"OMIM:614872"	"Peroxisome biogenesis disorder 7A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22965"	"PEX26"	"OMIM:614872"	"Peroxisome biogenesis disorder 7A (Zellweger)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"12851857, 20301621, 21031596, 28944237, 30446579, 32866347, 33926089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX260PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_5358-OMIM_226990-HP_0000007-GENCC_100002"	"HGNC:5358"	"IRF8"	"MONDO:0009194"	"immunodeficiency 32B"	"OMIM:226990"	"Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5358"	"IRF8"	"OMIM:226990"	"Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 16:04:53"	""	""	"21524210, 25122610, 29128673, 34666172"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF80Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_4586-OMIM_613970-HP_0000006-GENCC_100002"	"HGNC:4586"	"GRIN2B"	"MONDO:0013509"	"intellectual disability, autosomal dominant 6"	"OMIM:613970"	"Intellectual developmental disorder, autosomal dominant 6, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4586"	"GRIN2B"	"OMIM:613970"	"intellectual disability, autosomal dominant 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 08:04:29"	""	""	"20890276, 24272827, 28377535"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIN2B0MRD"	"2023-11-30"
"GENCC_000106-HGNC_4593-OMIM_614831-HP_0000007-GENCC_100002"	"HGNC:4593"	"GRM1"	"MONDO:0013905"	"autosomal recessive spinocerebellar ataxia 13"	"OMIM:614831"	"Spinocerebellar ataxia, autosomal recessive 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4593"	"GRM1"	"OMIM:614831"	"autosomal recessive spinocerebellar ataxia 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-27 23:57:01"	""	""	"22901947, 26308914, 31319223, 7954802, 7969468, 9000105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRM10SCAR"	"2023-11-30"
"GENCC_000106-HGNC_4593-OMIM_617691-HP_0000006-GENCC_100002"	"HGNC:4593"	"GRM1"	"MONDO:0033479"	"spinocerebellar ataxia 44"	"OMIM:617691"	"Spinocerebellar ataxia 44"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4593"	"GRM1"	"OMIM:617691"	"Spinocerebellar ataxia 44"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:21"	""	""	"28886343"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRM10SCA02"	"2023-11-30"
"GENCC_000106-HGNC_20153-OMIM_615032-HP_0000006-GENCC_100002"	"HGNC:20153"	"CHD8"	"MONDO:0014017"	"intellectual developmental disorder with autism and macrocephaly"	"OMIM:615032"	"Intellectual developmental disorder with autism and macrocephaly"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20153"	"CHD8"	"OMIM:615032"	"Intellectual developmental disorder with autism and macrocephaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-04 16:47:41"	""	""	"22495306, 22495309, 22495311, 23160955, 24998929, 25418537, 25849321, 26789910, 29668850, 31130284, 31618753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD80ASD"	"2023-11-30"
"GENCC_000106-HGNC_24959-OMIM_618646-HP_0000005-GENCC_100004"	"HGNC:24959"	"GSX2"	"MONDO:0020762"	"diencephalic-mesencephalic junction dysplasia syndrome 2"	"OMIM:618646"	"Diencephalic-mesencephalic junction dysplasia syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24959"	"GSX2"	"OMIM:618646"	"Diencephalic-mesencephalic junction dysplasia syndrome 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-15 12:08:09"	""	""	"31412107"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GSX20GSX2rel"	"2023-11-30"
"GENCC_000106-HGNC_4689-OMIM_204000-HP_0000007-GENCC_100002"	"HGNC:4689"	"GUCY2D"	"MONDO:0008764"	"Leber congenital amaurosis 1"	"OMIM:204000"	"Leber congenital amaurosis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4689"	"GUCY2D"	"OMIM:204000"	"Leber congenital amaurosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-20 20:27:19"	""	""	"10951519, 11328726, 15024725, 17964524, 23847139, 8944027"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUCY2D0Leber"	"2023-11-30"
"GENCC_000106-HGNC_25799-OMIM_617065-HP_0000005-GENCC_100004"	"HGNC:25799"	"GUF1"	"MONDO:0014895"	"developmental and epileptic encephalopathy, 40"	"OMIM:617065"	"?Developmental and epileptic encephalopathy 40"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25799"	"GUF1"	"OMIM:617065"	"?Developmental and epileptic encephalopathy 40"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:52"	""	""	"18007604, 26486472, 30945278"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUF10?Epilept"	"2023-11-30"
"GENCC_000106-HGNC_4699-OMIM_613507-HP_0000007-GENCC_100002"	"HGNC:4699"	"GYG1"	"MONDO:0013291"	"glycogen storage disease XV"	"OMIM:613507"	"?Glycogen storage disease XV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4699"	"GYG1"	"OMIM:613507"	"glycogen storage disease XV"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"20357282, 25272951, 27718144, 29264399"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GYG10GSD"	"2023-11-30"
"GENCC_000106-HGNC_4713-OMIM_130650-HP_0000005-GENCC_100004"	"HGNC:4713"	"H19"	"MONDO:0007534"	"Beckwith-Wiedemann syndrome"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4713"	"H19"	"OMIM:130650"	"Beckwith-Wiedemann syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-21 06:53:02"	""	""	"19209620, 1979595, 20007505, 21863054, 23118352, 23572028, 24154661"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"H190Beckwith"	"2023-11-30"
"GENCC_000106-HGNC_4796-OMIM_617660-HP_0000007-GENCC_100002"	"HGNC:4796"	"HAAO"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"OMIM:617660"	"Vertebral, cardiac, renal, and limb defects syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4796"	"HAAO"	"OMIM:617660"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"28792876"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HAAO0VCRL1"	"2023-11-30"
"GENCC_000106-HGNC_4816-OMIM_614504-HP_0000007-GENCC_100002"	"HGNC:4816"	"HARS1"	"MONDO:0013788"	"Usher syndrome type 3B"	"OMIM:614504"	"Usher syndrome type 3B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4816"	"HARS1"	"OMIM:614504"	"Usher syndrome type 3B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 18:21:02"	""	""	"22279524, 22930593, 27353947, 28632987"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HARS0Usher"	"2023-11-30"
"GENCC_000106-HGNC_4823-OMIM_140700-HP_0000007-GENCC_100004"	"HGNC:4823"	"HBA1"	"MONDO:0007705"	"Heinz body anemia"	"OMIM:140700"	"Heinz body anemias, alpha-"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4823"	"HBA1"	"OMIM:140700"	"Heinz body anemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-14 13:43:35"	""	""	"2833478"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBA10HeinzBodyAnemia"	"2023-11-30"
"GENCC_000106-HGNC_4824-OMIM_617981-HP_0000006-GENCC_100004"	"HGNC:4824"	"HBA2"	"MONDO:0054802"	"erythrocytosis, familial, 7"	"OMIM:617981"	"Erythrocytosis, familial, 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4824"	"HBA2"	"OMIM:617981"	"erythrocytosis, familial, 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-06 10:17:01"	""	""	"15658192, 1988759, 7928378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBA20Erythrocytosis"	"2023-11-30"
"GENCC_000106-HGNC_4824-OMIM_604131-HP_0000007-GENCC_100002"	"HGNC:4824"	"HBA2"	"MONDO:0011399"	"alpha thalassemia spectrum"	"OMIM:604131"	"Thalassemias, alpha-"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4824"	"HBA2"	"OMIM:604131"	"alpha thalassemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-14 13:43:22"	""	""	"20301608, 27199182"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBA20Thalassemia"	"2023-11-30"
"GENCC_000106-HGNC_4827-OMIM_617980-HP_0000006-GENCC_100002"	"HGNC:4827"	"HBB"	"MONDO:0054801"	"erythrocytosis, familial, 6"	"OMIM:617980"	"Erythrocytosis, familial, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4827"	"HBB"	"OMIM:617980"	"erythrocytosis, familial, 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-07-06 10:17:21"	""	""	"22821886, 31132167, 31304856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HBB0FamErythr"	"2023-11-30"
"GENCC_000106-HGNC_26560-OMIM_615067-HP_0000007-GENCC_100002"	"HGNC:26560"	"ODAD1"	"MONDO:0014030"	"primary ciliary dyskinesia 20"	"OMIM:615067"	"Ciliary dyskinesia, primary, 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26560"	"ODAD1"	"OMIM:615067"	"Ciliary dyskinesia, primary, 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 16:35:03"	""	""	"23261302, 23261303, 30067075"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC1140PCD"	"2023-11-30"
"GENCC_000106-HGNC_4220-OMIM_615072-HP_0000006-GENCC_100002"	"HGNC:4220"	"GDF5"	"MONDO:0014032"	"brachydactyly type A1C"	"OMIM:615072"	"Brachydactyly, type A1, C"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4220"	"GDF5"	"OMIM:615072"	"Brachydactyly, type A1, C"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"12357473, 12567410, 16014698, 8145850, 9288091"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF50Brachyda"	"2023-11-30"
"GENCC_000106-HGNC_21086-OMIM_615092-HP_0000005-GENCC_100004"	"HGNC:21086"	"MIB1"	"MONDO:0014042"	"left ventricular noncompaction 7"	"OMIM:615092"	"Left ventricular noncompaction 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21086"	"MIB1"	"OMIM:615092"	"Left ventricular noncompaction 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 08:22:16"	""	""	"23314057, 25621899, 26188975, 28530678, 28794111, 29447731, 29540472, 30322850, 30847666, 32659924, 32786180, 32880476, 33100332"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIB10LVNC"	"2023-11-30"
"GENCC_000106-HGNC_391-OMIM_615109-HP_0000005-GENCC_100004"	"HGNC:391"	"AKT1"	"MONDO:0014048"	"Cowden syndrome 6"	"OMIM:615109"	"Cowden syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:391"	"AKT1"	"OMIM:615109"	"Cowden syndrome 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-19 09:47:45"	""	""	"23246288"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKT10CS"	"2023-11-30"
"GENCC_000106-HGNC_2389-OMIM_615184-HP_0000006-GENCC_100004"	"HGNC:2389"	"CRYAB"	"MONDO:0014073"	"dilated cardiomyopathy 1II"	"OMIM:615184"	"Cardiomyopathy, dilated, 1II"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2389"	"CRYAB"	"OMIM:615184"	"Cardiomyopathy, dilated, 1II"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 08:37:23"	""	""	"14681890, 16483541, 16793013, 23194663, 23197161"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRYAB0DCM"	"2023-11-30"
"GENCC_000106-HGNC_4839-OMIM_309541-HP_0001417-GENCC_100002"	"HGNC:4839"	"HCFC1"	"MONDO:0010657"	"methylmalonic acidemia with homocystinuria, type cblX"	"OMIM:309541"	"Methylmalonic aciduria and homocysteinemia, cblX type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4839"	"HCFC1"	"OMIM:309541"	"methylmalonic acidemia with homocystinuria, type cblX"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:03"	""	""	"23000143, 24011988, 25740848"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HCFC10ID"	"2023-11-30"
"GENCC_000106-HGNC_4220-OMIM_615298-HP_0000006-GENCC_100002"	"HGNC:4220"	"GDF5"	"MONDO:0014125"	"symphalangism, proximal, 1B"	"OMIM:615298"	"Symphalangism, proximal, 1B"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4220"	"GDF5"	"OMIM:615298"	"Symphalangism, proximal, 1B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:34:50"	""	""	"16127465, 16532400, 16892395, 18283415, 29371961"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GDF50Symphala"	"2023-11-30"
"GENCC_000106-HGNC_4845-OMIM_615871-HP_0000006-GENCC_100002"	"HGNC:4845"	"HCN1"	"MONDO:0014377"	"developmental and epileptic encephalopathy, 24"	"OMIM:615871"	"Developmental and epileptic encephalopathy 24"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4845"	"HCN1"	"OMIM:615871"	"developmental and epileptic encephalopathy, 24"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-26 16:48:09"	""	""	"24747641, 27541642, 27864847"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HCN10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_4845-OMIM_618482-HP_0000006-GENCC_100002"	"HGNC:4845"	"HCN1"	"MONDO:0032777"	"generalized epilepsy with febrile seizures plus, type 10"	"OMIM:618482"	"Generalized epilepsy with febrile seizures plus, type 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4845"	"HCN1"	"OMIM:618482"	"Generalized epilepsy with febrile seizures plus, type 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-08 18:13:04"	""	""	"30351409"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HCN10GEFSplus"	"2023-11-30"
"GENCC_000106-HGNC_16882-OMIM_613123-HP_0000006-GENCC_100004"	"HGNC:16882"	"HCN4"	"MONDO:0013148"	"Brugada syndrome 8"	"OMIM:613123"	"Brugada syndrome 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16882"	"HCN4"	"OMIM:613123"	"Brugada syndrome 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-11-22 21:53:14"	""	""	"19165230, 22840528, 24492017, 27553229"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HCN40Brugada"	"2023-11-30"
"GENCC_000106-HGNC_16882-OMIM_163800-HP_0000006-GENCC_100002"	"HGNC:16882"	"HCN4"	"MONDO:0008102"	"sick sinus syndrome 2, autosomal dominant"	"OMIM:163800"	"Sick sinus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16882"	"HCN4"	"OMIM:163800"	"sick sinus syndrome 2, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-12 15:20:51"	""	""	"12750403, 16407510, 17646576, 21193513, 21791463, 25145517, 25145518, 28182231, 28465117, 31731876, 8750801"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HCN40HCN4rel"	"2023-11-30"
"GENCC_000106-HGNC_14063-OMIM_600430-HP_0000005-GENCC_100004"	"HGNC:14063"	"HDAC4"	"MONDO:0010886"	"2q37 microdeletion syndrome"	"OMIM:600430"	"Chromosome 2q37 deletion syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14063"	"HDAC4"	"OMIM:600430"	"2q37 microdeletion syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 08:45:03"	""	""	"150935, 15537544, 20691407, 24216484, 24715439, 25402011, 29236091"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HDAC40BrachyE"	"2023-11-30"
"GENCC_000106-HGNC_2770-OMIM_601419-HP_0000007-GENCC_100002"	"HGNC:2770"	"DES"	"MONDO:0011076"	"myofibrillar myopathy 1"	"OMIM:601419"	"Myopathy, myofibrillar, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2770"	"DES"	"OMIM:601419"	"Myopathy, myofibrillar, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 09:06:48"	""	""	"16376610, 19433360, 23575897, 969770, 9736733"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DES0MFM02"	"2023-11-30"
"GENCC_000106-HGNC_14064-OMIM_300863-HP_0001417-GENCC_100004"	"HGNC:14064"	"HDAC6"	"MONDO:0010463"	"X-linked dominant chondrodysplasia, Chassaing-Lacombe type"	"OMIM:300863"	"?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:14064"	"HDAC6"	"OMIM:300863"	"X-linked dominant chondrodysplasia, Chassaing-Lacombe type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-07-05 09:24:17"	""	""	"20181727, 29758562, 33728303"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HDAC60?Chondro"	"2023-11-30"
"GENCC_000106-HGNC_26087-OMIM_620072-HP_0000007-GENCC_100002"	"HGNC:26087"	"HEATR3"	"MONDO:0031071"	"Diamond-Blackfan anemia 21"	"OMIM:620072"	"Diamond-Blackfan anemia 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26087"	"HEATR3"	"OMIM:620072"	"Diamond-Blackfan anemia 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-02 17:13:18"	""	""	"35213692"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HEATR30DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_1917-OMIM_615369-HP_0000006-GENCC_100002"	"HGNC:1917"	"CHD2"	"MONDO:0014150"	"developmental and epileptic encephalopathy 94"	"OMIM:615369"	"Developmental and epileptic encephalopathy 94"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1917"	"CHD2"	"OMIM:615369"	"Developmental and epileptic encephalopathy 94"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 03:15:47"	""	""	"23708187, 24207121, 24834135, 25783594, 29740950, 31677157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD20EEOC"	"2023-11-30"
"GENCC_000106-HGNC_10586-OMIM_615377-HP_0000005-GENCC_100004"	"HGNC:10586"	"SCN1B"	"MONDO:0014155"	"atrial fibrillation, familial, 13"	"OMIM:615377"	"Atrial fibrillation, familial, 13"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10586"	"SCN1B"	"OMIM:615377"	"Atrial fibrillation, familial, 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-31 11:09:26"	""	""	"19808477, 24055113, 26129877"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN1B0Afib"	"2023-11-30"
"GENCC_000106-HGNC_4868-OMIM_615516-HP_0000007-GENCC_100002"	"HGNC:4868"	"HERC2"	"MONDO:0014224"	"developmental delay with autism spectrum disorder and gait instability"	"OMIM:615516"	"Intellectual developmental disorder, autosomal recessive 38"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4868"	"HERC2"	"OMIM:615516"	"developmental delay with autism spectrum disorder and gait instability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:29:29"	""	""	"23065719, 23243086, 24927284, 25363768, 26077850, 27435318, 27528230, 27759030, 27848944, 28191890, 30525188, 30902390, 31578829, 31623504, 32571899, 9689098"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HERC20MRXSCH"	"2023-11-30"
"GENCC_000106-HGNC_20193-OMIM_615724-HP_0000005-GENCC_100004"	"HGNC:20193"	"HFM1"	"MONDO:0014322"	"premature ovarian failure 9"	"OMIM:615724"	"Premature ovarian failure 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20193"	"HFM1"	"OMIM:615724"	"Premature ovarian failure 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-20 19:52:28"	""	""	"24597873, 26679638, 31028847, 31279343, 36864181"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HFM10Prematur03"	"2023-11-30"
"GENCC_000106-HGNC_26527-OMIM_252930-HP_0000007-GENCC_100002"	"HGNC:26527"	"HGSNAT"	"MONDO:0009657"	"mucopolysaccharidosis type 3C"	"OMIM:252930"	"Mucopolysaccharidosis type IIIC (Sanfilippo C)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26527"	"HGSNAT"	"OMIM:252930"	"mucopolysaccharidosis type 3C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-09 10:12:14"	""	""	"15083297, 17033958, 18024218, 19479962, 20825431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HGSNAT0MPS0III"	"2023-11-30"
"GENCC_000106-HGNC_26527-OMIM_616544-HP_0000007-GENCC_100002"	"HGNC:26527"	"HGSNAT"	"MONDO:0014687"	"retinitis pigmentosa 73"	"OMIM:616544"	"Retinitis pigmentosa 73"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26527"	"HGSNAT"	"OMIM:616544"	"retinitis pigmentosa 73"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:45:27"	""	""	"1.59069E+15, 25859010, 27608171, 28041643, 28981474"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HGSNAT0RP"	"2023-11-30"
"GENCC_000106-HGNC_18270-OMIM_600092-HP_0000007-GENCC_100002"	"HGNC:18270"	"HHAT"	"MONDO:0010814"	"chondrodysplasia-pseudohermaphroditism syndrome"	"OMIM:600092"	"Nivelon-Nivelon-Mabille syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18270"	"HHAT"	"OMIM:600092"	"chondrodysplasia-pseudohermaphroditism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 16:59:35"	""	""	"15578577, 24784881, 29565416, 30912300, 33749989, 36631813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HHAT0CDSD"	"2023-11-30"
"GENCC_000106-HGNC_15736-OMIM_619983-HP_0000007-GENCC_100002"	"HGNC:15736"	"HID1"	"MONDO:0031028"	"developmental and epileptic encephalopathy 105 with hypopituitarism"	"OMIM:619983"	"Developmental and epileptic encephalopathy 105 with hypopituitarism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15736"	"HID1"	"OMIM:619983"	"developmental and epileptic encephalopathy 105 with hypopituitarism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 20:18:17"	""	""	"28600779, 33999436"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HID10HID1rel"	"2023-11-30"
"GENCC_000106-HGNC_4718-OMIM_617537-HP_0000006-GENCC_100002"	"HGNC:4718"	"H1-4"	"MONDO:0044323"	"Rahman syndrome"	"OMIM:617537"	"Rahman syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4718"	"H1-4"	"OMIM:617537"	"Rahman syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 02:53:48"	""	""	"25081361, 28475857, 31400068, 31447100"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HIST1H1E0Rahman"	"2023-11-30"
"GENCC_000106-HGNC_4887-OMIM_602390-HP_0000007-GENCC_100002"	"HGNC:4887"	"HJV"	"MONDO:0011216"	"hemochromatosis type 2A"	"OMIM:602390"	"Hemochromatosis, type 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4887"	"HJV"	"OMIM:602390"	"hemochromatosis type 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"14647275, 14982867, 17768121, 18827264, 20301349, 21966437, 22306267, 22408404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HJV0HH"	"2023-11-30"
"GENCC_000106-HGNC_4922-OMIM_235700-HP_0000007-GENCC_100002"	"HGNC:4922"	"HK1"	"MONDO:0009340"	"non-spherocytic hemolytic anemia due to hexokinase deficiency"	"OMIM:235700"	"Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4922"	"HK1"	"OMIM:235700"	"non-spherocytic hemolytic anemia due to hexokinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-14 07:21:44"	""	""	"12211198, 12393545, 19608687, 27282571, 31119733, 7655856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HK10HexokinaseDef"	"2023-11-30"
"GENCC_000106-HGNC_4922-OMIM_617460-HP_0000006-GENCC_100002"	"HGNC:4922"	"HK1"	"MONDO:0044320"	"retinitis pigmentosa 79"	"OMIM:617460"	"Retinitis pigmentosa 79"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4922"	"HK1"	"OMIM:617460"	"retinitis pigmentosa 79"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 07:35:57"	""	""	"25190649, 25316723, 26427411, 28765615"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HK10RP"	"2023-11-30"
"GENCC_000106-HGNC_4922-OMIM_618547-HP_0000006-GENCC_100002"	"HGNC:4922"	"HK1"	"MONDO:0032807"	"neurodevelopmental disorder with visual defects and brain anomalies"	"OMIM:618547"	"Neurodevelopmental disorder with visual defects and brain anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4922"	"HK1"	"OMIM:618547"	"neurodevelopmental disorder with visual defects and brain anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-17 21:48:06"	""	""	"30778173"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HK10Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_19194-OMIM_603075-HP_0000005-GENCC_100004"	"HGNC:19194"	"HMCN1"	"MONDO:0011285"	"age related macular degeneration 1"	"OMIM:603075"	"{?Macular degeneration, age-related}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19194"	"HMCN1"	"OMIM:603075"	"age related macular degeneration 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-12 11:45:36"	""	""	"14570714, 17216616, 22025579, 25986072, 27007659, 28431867, 31635417"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMCN10MacularDegen"	"2023-11-30"
"GENCC_000106-HGNC_5009-OMIM_618908-HP_0000006-GENCC_100002"	"HGNC:5009"	"HMGA2"	"MONDO:0020795"	"Silver-Russell syndrome 5"	"OMIM:618908"	"Silver-Russell syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5009"	"HMGA2"	"OMIM:618908"	"Silver-Russell syndrome 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:22"	""	""	"19765681, 22887875, 25809938, 28796236, 29453418, 29501611, 29655892"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMGA20SilRussSyn"	"2023-11-30"
"GENCC_000106-HGNC_26724-OMIM_615382-HP_0000007-GENCC_100002"	"HGNC:26724"	"ANKS6"	"MONDO:0014158"	"nephronophthisis 16"	"OMIM:615382"	"Nephronophthisis 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26724"	"ANKS6"	"OMIM:615382"	"Nephronophthisis 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 07:11:55"	""	""	"16207829, 17855640, 23793029, 24610927, 25599650"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANKS60Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_5006-OMIM_620375-HP_0000007-GENCC_100002"	"HGNC:5006"	"HMGCR"	"MONDO:0957270"	"muscular dystrophy, limb-girdle, autosomal recessive 28"	"OMIM:620375"	"Muscular dystrophy, limb-girdle, autosomal recessive 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5006"	"HMGCR"	"OMIM:620375"	"Muscular dystrophy, limb-girdle, autosomal recessive 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:41:56"	""	""	"36745799, 37167966"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMGCR0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_5013-OMIM_606963-HP_0000005-GENCC_100004"	"HGNC:5013"	"HMOX1"	"MONDO:0005002"	"chronic obstructive pulmonary disease"	"OMIM:606963"	"{Pulmonary disease, chronic obstructive, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5013"	"HMOX1"	"OMIM:606963"	"Pulmonary disease, chronic obstructive, severe early-onset"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"10631150, 16882737"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HMOX10PulmDis"	"2023-11-30"
"GENCC_000106-HGNC_11621-OMIM_600496-HP_0000006-GENCC_100002"	"HGNC:11621"	"HNF1A"	"MONDO:0010894"	"maturity-onset diabetes of the young type 3"	"OMIM:600496"	"MODY, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11621"	"HNF1A"	"OMIM:600496"	"maturity-onset diabetes of the young type 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-13 15:29:02"	""	""	"10417964, 15928245, 16917892, 18003757, 22432108, 8945470, 9097962, 9112026"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNF1A0Mody,Typ"	"2023-11-30"
"GENCC_000106-HGNC_5024-OMIM_125850-HP_0000006-GENCC_100002"	"HGNC:5024"	"HNF4A"	"MONDO:0007452"	"maturity-onset diabetes of the young type 1"	"OMIM:125850"	"MODY, type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5024"	"HNF4A"	"OMIM:125850"	"maturity-onset diabetes of the young type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-19 16:40:16"	""	""	"17407387, 21683639, 23348805, 24097065"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNF4A0MODY"	"2023-11-30"
"GENCC_000106-HGNC_5031-OMIM_615426-HP_0000006-GENCC_100002"	"HGNC:5031"	"HNRNPA1"	"MONDO:0014181"	"amyotrophic lateral sclerosis type 20"	"OMIM:615426"	"Amyotrophic lateral sclerosis 20"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5031"	"HNRNPA1"	"OMIM:615426"	"amyotrophic lateral sclerosis type 20"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-05 09:09:52"	""	""	"23455423, 25002999, 27694260, 29033165, 29342275"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPA10ALS"	"2023-11-30"
"GENCC_000106-HGNC_5031-OMIM_615424-HP_0000006-GENCC_100002"	"HGNC:5031"	"HNRNPA1"	"MONDO:0014179"	"inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3"	"OMIM:615424"	"?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5031"	"HNRNPA1"	"OMIM:615424"	"inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-24 09:23:07"	""	""	"23455423, 27066560"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPA10IBMPFD"	"2023-11-30"
"GENCC_000106-HGNC_5041-OMIM_620083-HP_0000006-GENCC_100002"	"HGNC:5041"	"HNRNPH1"	"MONDO:0859301"	"neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"	"OMIM:620083"	"Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5041"	"HNRNPH1"	"OMIM:620083"	"Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-01 16:19:07"	""	""	"29938792, 300986, 32335897"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPH10ID"	"2023-11-30"
"GENCC_000106-HGNC_5047-OMIM_620073-HP_0000006-GENCC_100002"	"HGNC:5047"	"HNRNPR"	"MONDO:0859297"	"neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"	"OMIM:620073"	"Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5047"	"HNRNPR"	"OMIM:620073"	"Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-01 17:42:55"	""	""	"26795593, 28714951, 31079900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HNRNPR0HNRNPRrel"	"2023-11-30"
"GENCC_000106-HGNC_5103-OMIM_612290-HP_0000007-GENCC_100004"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"?Microtia, hearing impairment, and cleft palate (AR)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"bilateral microtia-deafness-cleft palate syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-07-15 17:56:51"	""	""	"18394579, 7903600"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXA20?Microti02"	"2023-11-30"
"GENCC_000106-HGNC_5136-OMIM_186000-HP_0000006-GENCC_100002"	"HGNC:5136"	"HOXD13"	"MONDO:0008513"	"synpolydactyly type 1"	"OMIM:186000"	"Synpolydactyly 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5136"	"HOXD13"	"OMIM:186000"	"Synpolydactyly 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 19:42:37"	""	""	"18399101, 21782042, 21814222, 27254532, 9580668, 9758628"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HOXD130Synpolydactyly"	"2023-11-30"
"GENCC_000106-HGNC_5147-OMIM_140350-HP_0000005-GENCC_100004"	"HGNC:5147"	"HPD"	"MONDO:0007700"	"hawkinsinuria"	"OMIM:140350"	"Hawkinsinuria"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5147"	"HPD"	"OMIM:140350"	"hawkinsinuria"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-14 12:25:48"	""	""	"10942115, 11073718, 17560158, 20677779, 26226126, 27488560, 31342835"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPD0Hawkinsinuria"	"2023-11-30"
"GENCC_000106-HGNC_28242-OMIM_619026-HP_0000007-GENCC_100002"	"HGNC:28242"	"HPDL"	"MONDO:0033613"	"neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"OMIM:619026"	"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28242"	"HPDL"	"OMIM:619026"	"neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 18:57:39"	""	""	"32707086, 33188300, 33970200"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPDL0HPDL-rel"	"2023-11-30"
"GENCC_000106-HGNC_5154-OMIM_119900-HP_0000005-GENCC_100004"	"HGNC:5154"	"HPGD"	"MONDO:0007343"	"isolated congenital digital clubbing"	"OMIM:119900"	"?Digital clubbing, isolated congenital"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5154"	"HPGD"	"OMIM:119900"	"?Digital clubbing, isolated congenital"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-17 13:57:07"	""	""	"18805827, 29282707"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPGD0DigitalClub"	"2023-11-30"
"GENCC_000106-HGNC_5157-OMIM_300323-HP_0001417-GENCC_100002"	"HGNC:5157"	"HPRT1"	"MONDO:0010299"	"hypoxanthine guanine phosphoribosyltransferase partial deficiency"	"OMIM:300323"	"Hyperuricemia, HRPT-related"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:5157"	"HPRT1"	"OMIM:300323"	"hypoxanthine guanine phosphoribosyltransferase partial deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 08:28:57"	""	""	"15571220, 17027311, 22157001"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HPRT10HPRT"	"2023-11-30"
"GENCC_000106-HGNC_5193-OMIM_619194-HP_0000005-GENCC_100004"	"HGNC:5193"	"HS2ST1"	"MONDO:0030966"	"neurofacioskeletal syndrome with or without renal agenesis"	"OMIM:619194"	"Neurofacioskeletal syndrome with or without renal agenesis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5193"	"HS2ST1"	"OMIM:619194"	"Neurofacioskeletal syndrome with or without renal agenesis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:59"	""	""	"25690317, 33159882"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HS2ST10HS2ST1rel"	"2023-11-30"
"GENCC_000106-HGNC_5201-OMIM_614880-HP_0000005-GENCC_100004"	"HGNC:5201"	"HS6ST1"	"MONDO:0013946"	"hypogonadotropic hypogonadism 15 with or without anosmia"	"OMIM:614880"	"{Hypogonadotropic hypogonadism 15 with or without anosmia}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5201"	"HS6ST1"	"OMIM:614880"	"hypogonadotropic hypogonadism 15 with or without anosmia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"21700882, 23643382, 25077900, 26207952, 27535533, 29419413, 29931354"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HS6ST10IHH"	"2023-11-30"
"GENCC_000106-HGNC_19133-OMIM_301025-HP_0000005-GENCC_100004"	"HGNC:19133"	"HS6ST2"	"MONDO:0026724"	"Paganini-Miozzo syndrome"	"OMIM:301025"	"?Paganini-Miozzo syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19133"	"HS6ST2"	"OMIM:301025"	"Paganini-Miozzo syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:12"	""	""	"30471091"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HS6ST20HS6ST2rel"	"2023-11-30"
"GENCC_000106-HGNC_23044-OMIM_615413-HP_0000005-GENCC_100004"	"HGNC:23044"	"NANOS1"	"MONDO:0014172"	"spermatogenic failure 12"	"OMIM:615413"	"Spermatogenic failure 12"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23044"	"NANOS1"	"OMIM:615413"	"Spermatogenic failure 12"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-04 09:36:10"	""	""	"23315541, 32155011, 32655042, 32719396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NANOS10SpermatoFail"	"2023-11-30"
"GENCC_000106-HGNC_4800-OMIM_300438-HP_0001417-GENCC_100002"	"HGNC:4800"	"HSD17B10"	"MONDO:0010327"	"HSD10 mitochondrial disease"	"OMIM:300438"	"HSD10 mitochondrial disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:4800"	"HSD17B10"	"OMIM:300438"	"HSD10 mitochondrial disease"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-20 20:32:25"	""	""	"22127393"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSD17B1002M3H"	"2023-11-30"
"GENCC_000106-HGNC_5213-OMIM_233400-HP_0000007-GENCC_100002"	"HGNC:5213"	"HSD17B4"	"MONDO:0009300"	"Perrault syndrome 1"	"OMIM:233400"	"Perrault syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5213"	"HSD17B4"	"OMIM:233400"	"Perrault syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-23 16:38:41"	""	""	"10748062, 20673864, 26970254, 27528516, 28830375, 32709422, 32961396, 34234304"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSD17B40Perrault"	"2023-11-30"
"GENCC_000106-HGNC_18324-OMIM_607765-HP_0000007-GENCC_100002"	"HGNC:18324"	"HSD3B7"	"MONDO:0011906"	"congenital bile acid synthesis defect 1"	"OMIM:607765"	"Bile acid synthesis defect, congenital, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18324"	"HSD3B7"	"OMIM:607765"	"congenital bile acid synthesis defect 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-10 16:36:14"	""	""	"12679481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSD3B70BileAcid"	"2023-11-30"
"GENCC_000106-HGNC_5246-OMIM_606595-HP_0000006-GENCC_100002"	"HGNC:5246"	"HSPB1"	"MONDO:0011687"	"Charcot-Marie-Tooth disease axonal type 2F"	"OMIM:606595"	"Charcot-Marie-Tooth disease, axonal, type 2F"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5246"	"HSPB1"	"OMIM:606595"	"Charcot-Marie-Tooth disease, axonal, type 2F"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-10 09:54:11"	""	""	"11528513, 15122254, 16368711, 17881652, 18832141, 21785432, 27492805, 28144995, 29381233, 4661565"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPB10CMT"	"2023-11-30"
"GENCC_000106-HGNC_6898-OMIM_615486-HP_0000007-GENCC_100002"	"HGNC:6898"	"MARS1"	"MONDO:0014206"	"severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"	"OMIM:615486"	"Interstitial lung and liver disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6898"	"MARS1"	"OMIM:615486"	"Interstitial lung and liver disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-22 12:23:51"	""	""	"24103465, 25913036, 30271085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MARS0InterLungLiver"	"2023-11-30"
"GENCC_000106-HGNC_26929-OMIM_615631-HP_0000007-GENCC_100002"	"HGNC:26929"	"CDIN1"	"MONDO:0014285"	"congenital dyserythropoietic anemia type type 1B"	"OMIM:615631"	"Dyserythropoietic anemia, congenital, type Ib"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26929"	"CDIN1"	"OMIM:615631"	"Dyserythropoietic anemia, congenital, type Ib"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-19 10:32:21"	""	""	"23716552, 29049846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C15orf410Dyseryth"	"2023-11-30"
"GENCC_000106-HGNC_5273-OMIM_224410-HP_0000007-GENCC_100002"	"HGNC:5273"	"HSPG2"	"MONDO:0009140"	"Silverman-Handmaker type dyssegmental dysplasia"	"OMIM:224410"	"Dyssegmental dysplasia, Silverman-Handmaker type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5273"	"HSPG2"	"OMIM:224410"	"Silverman-Handmaker type dyssegmental dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-20 13:04:22"	""	""	"11279527, 20542149, 23836246"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPG20DyssegmentalDys"	"2023-11-30"
"GENCC_000106-HGNC_5273-OMIM_255800-HP_0000007-GENCC_100002"	"HGNC:5273"	"HSPG2"	"MONDO:0100435"	"Schwartz-Jampel syndrome type 1"	"OMIM:255800"	"Schwartz-Jampel syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5273"	"HSPG2"	"OMIM:255800"	"Schwartz-Jampel syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-18 10:48:57"	""	""	"169080, 16927315, 251306"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSPG20SchwartzJampel"	"2023-11-30"
"GENCC_000106-HGNC_4851-OMIM_617435-HP_0000007-GENCC_100002"	"HGNC:4851"	"HTT"	"MONDO:0054573"	"Lopes-Maciel-Rodan syndrome"	"OMIM:617435"	"Lopes-Maciel-Rodan syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4851"	"HTT"	"OMIM:617435"	"Lopes-Maciel-Rodan syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"248284, 26740508, 27329733, 7550343, 7618107, 7774020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HTT0LMRsyndrome"	"2023-11-30"
"GENCC_000106-HGNC_30892-OMIM_309590-HP_0001417-GENCC_100002"	"HGNC:30892"	"HUWE1"	"MONDO:0010407"	"intellectual disability, X-linked syndromic, Turner type"	"OMIM:309590"	"Intellectual developmental disorder, X-linked syndromic, Turner type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:30892"	"HUWE1"	"OMIM:309590"	"intellectual disability, X-linked syndromic, Turner type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:12"	""	""	"18252223, 19377476, 22840365, 25644381, 29180823"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HUWE10XLID"	"2023-11-30"
"GENCC_000106-HGNC_26558-OMIM_236680-HP_0000007-GENCC_100002"	"HGNC:26558"	"HYLS1"	"MONDO:0009365"	"hydrolethalus syndrome 1"	"OMIM:236680"	"Hydrolethalus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26558"	"HYLS1"	"OMIM:236680"	"hydrolethalus syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 13:10:41"	""	""	"125769895, 15843405, 18648327, 19656802, 32509774, 34162535, 34212369"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HYLS10Hydroethalus"	"2023-11-30"
"GENCC_000106-HGNC_6404-OMIM_615637-HP_0000007-GENCC_100002"	"HGNC:6404"	"KPTN"	"MONDO:0014289"	"macrocephaly-developmental delay syndrome"	"OMIM:615637"	"Intellectual developmental disorder, autosomal recessive 41"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6404"	"KPTN"	"OMIM:615637"	"Intellectual developmental disorder, autosomal recessive 41"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 23:32:10"	""	""	"24239382, 25847626, 26633542"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KPTN0ID"	"2023-11-30"
"GENCC_000106-HGNC_9380-OMIM_615830-HP_0000005-GENCC_100004"	"HGNC:9380"	"PRKACA"	"MONDO:0014359"	"pigmented nodular adrenocortical disease, primary, 4"	"OMIM:615830"	"Cushing syndrome, ACTH-independent adrenal, somatic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9380"	"PRKACA"	"OMIM:615830"	"Pigmented nodular adrenocortical disease, primary, 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-07-26 12:08:32"	""	""	"22514673, 24571724, 24700472, 25449630"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKACA0CushingS"	"2023-11-30"
"GENCC_000106-HGNC_29685-OMIM_616007-HP_0000005-GENCC_100004"	"HGNC:29685"	"IARS2"	"MONDO:0014455"	"cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"	"OMIM:616007"	"Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29685"	"IARS2"	"OMIM:616007"	"cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-20 13:17:27"	""	""	"29914532"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IARS20Cataract"	"2023-11-30"
"GENCC_000106-HGNC_27302-OMIM_615330-HP_0000007-GENCC_100002"	"HGNC:27302"	"IBA57"	"MONDO:0014132"	"multiple mitochondrial dysfunctions syndrome 3"	"OMIM:615330"	"Multiple mitochondrial dysfunctions syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27302"	"IBA57"	"OMIM:615330"	"multiple mitochondrial dysfunctions syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 20:07:50"	""	""	"23462291, 25609768, 25971455, 27785568, 28671726"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IBA570MMdys"	"2023-11-30"
"GENCC_000106-HGNC_27302-OMIM_616451-HP_0000007-GENCC_100004"	"HGNC:27302"	"IBA57"	"MONDO:0014644"	"hereditary spastic paraplegia 74"	"OMIM:616451"	"?Spastic paraplegia 74, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27302"	"IBA57"	"OMIM:616451"	"?Spastic paraplegia 74, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-02-11 13:15:44"	""	""	"25609768, 2569768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IBA570SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_10313-OMIM_615885-HP_0000006-GENCC_100002"	"HGNC:10313"	"RPL21"	"MONDO:0014384"	"hypotrichosis 12"	"OMIM:615885"	"Hypotrichosis 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10313"	"RPL21"	"OMIM:615885"	"Hypotrichosis 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:35"	""	""	"21412954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL210Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_5385-OMIM_612572-HP_0000007-GENCC_100002"	"HGNC:5385"	"IDH3B"	"MONDO:0012943"	"retinitis pigmentosa 46"	"OMIM:612572"	"Retinitis pigmentosa 46"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5385"	"IDH3B"	"OMIM:612572"	"retinitis pigmentosa 46"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 08:42:06"	""	""	"18806796, 18807796, 30718709, 31736247"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IDH3B0RP"	"2023-11-30"
"GENCC_000106-HGNC_5391-OMIM_607016-HP_0000007-GENCC_100002"	"HGNC:5391"	"IDUA"	"MONDO:0011760"	"Scheie syndrome"	"OMIM:607016"	"Mucopolysaccharidosis Is"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5391"	"IDUA"	"OMIM:607016"	"Scheie syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 14:28:32"	""	""	"11735025, 21394825, 21480867, 22976768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IDUA0MPSI"	"2023-11-30"
"GENCC_000106-HGNC_18550-OMIM_614231-HP_0000007-GENCC_100002"	"HGNC:18550"	"IER3IP1"	"MONDO:0031481"	"microcephaly, epilepsy, and diabetes syndrome 1"	"OMIM:614231"	"Microcephaly, epilepsy, and diabetes syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18550"	"IER3IP1"	"OMIM:614231"	"primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"21835305, 22991235, 24138066, 28711742, 31264968"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IER3IP10PMEND"	"2023-11-30"
"GENCC_000106-HGNC_18873-OMIM_615846-HP_0000006-GENCC_100002"	"HGNC:18873"	"IFIH1"	"MONDO:0014367"	"Aicardi-Goutieres syndrome 7"	"OMIM:615846"	"Aicardi-Goutieres syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18873"	"IFIH1"	"OMIM:615846"	"Aicardi-Goutieres syndrome 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-30 19:45:11"	""	""	"24686847, 24995871, 615846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFIH10AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_18873-OMIM_182250-HP_0000006-GENCC_100002"	"HGNC:18873"	"IFIH1"	"MONDO:0024535"	"Singleton-Merten syndrome 1"	"OMIM:182250"	"Singleton-Merten syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18873"	"IFIH1"	"OMIM:182250"	"Singleton-Merten syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-30 08:40:37"	""	""	"25620204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFIH10SingletonMerten"	"2023-11-30"
"GENCC_000106-HGNC_15832-OMIM_615924-HP_0000007-GENCC_100002"	"HGNC:15832"	"BSCL2"	"MONDO:0014402"	"severe neurodegenerative syndrome with lipodystrophy"	"OMIM:615924"	"Encephalopathy, progressive, with or without lipodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15832"	"BSCL2"	"OMIM:615924"	"Encephalopathy, progressive, with or without lipodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 12:54:27"	""	""	"23564749"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BSCL20BSCL2 Enceph"	"2023-11-30"
"GENCC_000106-HGNC_6621-OMIM_615980-HP_0000007-GENCC_100002"	"HGNC:6621"	"LIPE"	"MONDO:0014431"	"LIPE-related familial partial lipodystrophy"	"OMIM:615980"	"Lipodystrophy, familial partial, type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6621"	"LIPE"	"OMIM:615980"	"Lipodystrophy, familial partial, type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:57"	""	""	"10639158, 24848981, 25475467, 27862896"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIPE0Lipodyst02"	"2023-11-30"
"GENCC_000106-HGNC_13556-OMIM_218330-HP_0000007-GENCC_100002"	"HGNC:13556"	"IFT122"	"MONDO:0021093"	"cranioectodermal dysplasia 1"	"OMIM:218330"	"Cranioectodermal dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13556"	"IFT122"	"OMIM:218330"	"cranioectodermal dysplasia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-17 13:10:38"	""	""	"20493458, 21209331, 23826986, 24123776, 26792575"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT1220ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_29203-OMIM_616044-HP_0000006-GENCC_100002"	"HGNC:29203"	"TBC1D24"	"MONDO:0014470"	"autosomal dominant nonsyndromic hearing loss 65"	"OMIM:616044"	"Deafness, autosomal dominant 65"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29203"	"TBC1D24"	"OMIM:616044"	"Deafness, autosomal dominant 65"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-03 10:07:38"	""	""	"24729539, 24729547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBC1D240Deafness"	"2023-11-30"
"GENCC_000106-HGNC_29077-OMIM_266920-HP_0000007-GENCC_100002"	"HGNC:29077"	"IFT140"	"MONDO:0009964"	"short-rib thoracic dysplasia 9 with or without polydactyly"	"OMIM:266920"	"Short-rib thoracic dysplasia 9 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29077"	"IFT140"	"OMIM:266920"	"short-rib thoracic dysplasia 9 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-29 03:58:25"	""	""	"154653, 22503633, 23418020, 24009529"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT1400ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_30391-OMIM_619471-HP_0000007-GENCC_100002"	"HGNC:30391"	"IFT172"	"MONDO:0023670"	"Bardet-Biedl syndrome 20"	"OMIM:619471"	"Bardet-Biedl syndrome 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30391"	"IFT172"	"OMIM:619471"	"Bardet-Biedl syndrome 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 08:48:46"	""	""	"25168386, 26763875"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT1720BardetBiedel"	"2023-11-30"
"GENCC_000106-HGNC_30391-OMIM_616394-HP_0000007-GENCC_100002"	"HGNC:30391"	"IFT172"	"MONDO:0014618"	"retinitis pigmentosa 71"	"OMIM:616394"	"Retinitis pigmentosa 71"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30391"	"IFT172"	"OMIM:616394"	"retinitis pigmentosa 71"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 07:57:29"	""	""	"25168386, 28559085, 31054281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT1720RP"	"2023-11-30"
"GENCC_000106-HGNC_30391-OMIM_615630-HP_0000007-GENCC_100002"	"HGNC:30391"	"IFT172"	"MONDO:0014284"	"short-rib thoracic dysplasia 10 with or without polydactyly"	"OMIM:615630"	"Short-rib thoracic dysplasia 10 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30391"	"IFT172"	"OMIM:615630"	"short-rib thoracic dysplasia 10 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"24140113, 25168386, 26763875"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT1720ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_18626-OMIM_615996-HP_0000007-GENCC_100002"	"HGNC:18626"	"IFT27"	"MONDO:0014447"	"Bardet-Biedl syndrome 19"	"OMIM:615996"	"Bardet-Biedl syndrome 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18626"	"IFT27"	"OMIM:615996"	"Bardet-Biedl syndrome 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"24488770, 25446516, 26023097, 29588463, 29704304, 30761183"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT270BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_823-OMIM_616045-HP_0000005-GENCC_100004"	"HGNC:823"	"ATP5F1A"	"MONDO:0020727"	"combined oxidative phosphorylation deficiency 22"	"OMIM:616045"	"?Combined oxidative phosphorylation deficiency 22"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:823"	"ATP5F1A"	"OMIM:616045"	"?Combined oxidative phosphorylation deficiency 22"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:55"	""	""	"17387143, 23596069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP5A10OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_2955-OMIM_616059-HP_0000005-GENCC_100004"	"HGNC:2955"	"DNAL4"	"MONDO:0014478"	"mirror movements 3"	"OMIM:616059"	"?Mirror movements 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2955"	"DNAL4"	"OMIM:616059"	"?Mirror movements 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:58"	""	""	"2509856, 25236653"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNAL40MM3"	"2023-11-30"
"GENCC_000106-HGNC_15901-OMIM_617102-HP_0000007-GENCC_100002"	"HGNC:15901"	"IFT52"	"MONDO:0014915"	"short-rib thoracic dysplasia 16 with or without polydactyly"	"OMIM:617102"	"Short-rib thoracic dysplasia 16 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15901"	"IFT52"	"OMIM:617102"	"short-rib thoracic dysplasia 16 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"15182712, 15930098, 26880018, 27466190, 30242358, 31042281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT520IFT52rel"	"2023-11-30"
"GENCC_000106-HGNC_17367-OMIM_617927-HP_0000005-GENCC_100004"	"HGNC:17367"	"IFT57"	"MONDO:0054770"	"orofaciodigital syndrome 18"	"OMIM:617927"	"?Orofaciodigital syndrome XVIII"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17367"	"IFT57"	"OMIM:617927"	"?Orofaciodigital syndrome XVIII"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:03"	""	""	"26655555, 27060890, 28289185"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT570OFD"	"2023-11-30"
"GENCC_000106-HGNC_21424-OMIM_617119-HP_0000007-GENCC_100004"	"HGNC:21424"	"IFT74"	"MONDO:0014926"	"Bardet-Biedl syndrome 22"	"OMIM:617119"	"Bardet-Biedl syndrome 22"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21424"	"IFT74"	"OMIM:617119"	"Bardet-Biedl syndrome 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-23 19:15:53"	""	""	"27486776, 32144365, 33748949"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT740?Bardet-"	"2023-11-30"
"GENCC_000106-HGNC_16192-OMIM_616063-HP_0000006-GENCC_100004"	"HGNC:16192"	"SLC17A9"	"MONDO:0014479"	"porokeratosis 8, disseminated superficial actinic type"	"OMIM:616063"	"Porokeratosis 8, disseminated superficial actinic type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16192"	"SLC17A9"	"OMIM:616063"	"Porokeratosis 8, disseminated superficial actinic type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-01 09:07:22"	""	""	"25180256, 29722423"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC17A90Porokera03"	"2023-11-30"
"GENCC_000106-HGNC_29262-OMIM_611263-HP_0000007-GENCC_100002"	"HGNC:29262"	"IFT80"	"MONDO:0012644"	"asphyxiating thoracic dystrophy 2"	"OMIM:611263"	"Short-rib thoracic dysplasia 2 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29262"	"IFT80"	"OMIM:611263"	"asphyxiating thoracic dystrophy 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-30 08:54:54"	""	""	"17468754, 19648123, 20207966, 21227999, 23339108, 29068549, 29923190, 33957996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT800AsphyxThoracDys"	"2023-11-30"
"GENCC_000106-HGNC_15573-OMIM_616078-HP_0000006-GENCC_100002"	"HGNC:15573"	"SETBP1"	"MONDO:0014482"	"intellectual disability, autosomal dominant 29"	"OMIM:616078"	"Intellectual developmental disorder, autosomal dominant 29"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15573"	"SETBP1"	"OMIM:616078"	"Intellectual developmental disorder, autosomal dominant 29"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-10 21:57:37"	""	""	"21037274, 23020937, 25217958, 25356899"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETBP10ID"	"2023-11-30"
"GENCC_000106-HGNC_5461-OMIM_300472-HP_0000005-GENCC_100004"	"HGNC:5461"	"IGBP1"	"MONDO:0010333"	"corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	"OMIM:300472"	"?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5461"	"IGBP1"	"OMIM:300472"	"corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:52"	""	""	"14556245, 28135719, 28191890, 30217625, 30298503, 73805828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGBP10CorpusCa"	"2023-11-30"
"GENCC_000106-HGNC_5542-OMIM_616155-HP_0000007-GENCC_100002"	"HGNC:5542"	"IGHMBP2"	"MONDO:0014511"	"Charcot-Marie-Tooth disease axonal type 2S"	"OMIM:616155"	"Charcot-Marie-Tooth disease, axonal, type 2S"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5542"	"IGHMBP2"	"OMIM:616155"	"Charcot-Marie-Tooth disease axonal type 2S"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 12:51:18"	""	""	"25439726, 25568292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGHMBP20CMT"	"2023-11-30"
"GENCC_000106-HGNC_5542-OMIM_604320-HP_0000007-GENCC_100002"	"HGNC:5542"	"IGHMBP2"	"MONDO:0011436"	"autosomal recessive distal spinal muscular atrophy 1"	"OMIM:604320"	"Neuronopathy, distal hereditary motor, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5542"	"IGHMBP2"	"OMIM:604320"	"autosomal recessive distal spinal muscular atrophy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:33:21"	""	""	"14681881, 15269181"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGHMBP20HMN"	"2023-11-30"
"GENCC_000106-HGNC_5870-OMIM_613500-HP_0000005-GENCC_100004"	"HGNC:5870"	"IGLL1"	"MONDO:0013287"	"agammaglobulinemia 2, autosomal recessive"	"OMIM:613500"	"Agammaglobulinemia 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5870"	"IGLL1"	"OMIM:613500"	"agammaglobulinemia 2, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:52"	""	""	"1591779, 19302039, 23917217, 25502423, 27576013, 9419212"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGLL10Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_5950-OMIM_149700-HP_0000005-GENCC_100004"	"HGNC:5950"	"IGSF3"	"MONDO:0007871"	"familial congenital nasolacrimal duct obstruction"	"OMIM:149700"	"?Lacrimal duct defect"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5950"	"IGSF3"	"OMIM:149700"	"?Lacrimal duct defect"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:45"	""	""	"24372406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IGSF30LacDuctDefect"	"2023-11-30"
"GENCC_000106-HGNC_13176-OMIM_616873-HP_0000006-GENCC_100002"	"HGNC:13176"	"IKZF1"	"MONDO:0014810"	"pancytopenia due to IKZF1 mutations"	"OMIM:616873"	"Immunodeficiency, common variable, 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13176"	"IKZF1"	"OMIM:616873"	"pancytopenia due to IKZF1 mutations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-16 04:08:36"	""	""	"26981933, 27939403, 28927821, 28960754"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IKZF10CVID"	"2023-11-30"
"GENCC_000106-HGNC_13178-OMIM_619437-HP_0000006-GENCC_100002"	"HGNC:13178"	"IKZF3"	"MONDO:0030333"	"immunodeficiency 84"	"OMIM:619437"	"?Immunodeficiency 84"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13178"	"IKZF3"	"OMIM:619437"	"immunodeficiency 84"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-19 16:19:08"	""	""	"12574333, 14718515, 25271777, 29510406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IKZF30IKZF3rel"	"2023-11-30"
"GENCC_000106-HGNC_16404-OMIM_613956-HP_0000005-GENCC_100004"	"HGNC:16404"	"IL17F"	"MONDO:0013503"	"candidiasis, familial, 6"	"OMIM:613956"	"?Candidiasis, familial, 6, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16404"	"IL17F"	"OMIM:613956"	"?Candidiasis, familial, 6, autosomal dominant"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"21350122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL17F0Candidiasis"	"2023-11-30"
"GENCC_000106-HGNC_18358-OMIM_616445-HP_0000005-GENCC_100004"	"HGNC:18358"	"IL17RC"	"MONDO:0014642"	"candidiasis, familial, 9"	"OMIM:616445"	"Candidiasis, familial, 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18358"	"IL17RC"	"OMIM:616445"	"Candidiasis, familial, 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:02"	""	""	"20554964, 25918342, 33225392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL17RC0Candidiasis"	"2023-11-30"
"GENCC_000106-HGNC_29300-OMIM_616099-HP_0000005-GENCC_100004"	"HGNC:29300"	"KANK2"	"MONDO:0014492"	"wooly hair-palmoplantar keratoderma syndrome"	"OMIM:616099"	"Palmoplantar keratoderma and woolly hair"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29300"	"KANK2"	"OMIM:616099"	"Palmoplantar keratoderma and woolly hair"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:55"	""	""	"24671081"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KANK20Palmopla03"	"2023-11-30"
"GENCC_000106-HGNC_6005-OMIM_615767-HP_0000005-GENCC_100004"	"HGNC:6005"	"IL21"	"MONDO:0014338"	"IL21-related infantile inflammatory bowel disease"	"OMIM:615767"	"?Immunodeficiency, common variable, 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6005"	"IL21"	"OMIM:615767"	"?Immunodeficiency, common variable, 11"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"2373046875, 24746753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL210CVID"	"2023-11-30"
"GENCC_000106-HGNC_6010-OMIM_300400-HP_0001417-GENCC_100002"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"OMIM:300400"	"Severe combined immunodeficiency, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:6010"	"IL2RG"	"OMIM:300400"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 18:48:03"	""	""	"10794430, 9058718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL2RG0SCID"	"2023-11-30"
"GENCC_000106-HGNC_18969-OMIM_613955-HP_0000005-GENCC_100004"	"HGNC:18969"	"IL31RA"	"MONDO:0013502"	"amyloidosis, primary localized cutaneous, 2"	"OMIM:613955"	"?Amyloidosis, primary localized cutaneous, 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18969"	"IL31RA"	"OMIM:613955"	"amyloidosis, primary localized cutaneous, 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"19690585, 29420094, 30308545, 30734345, 31478212, 31848144"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL31RA0Amyloido"	"2023-11-30"
"GENCC_000106-HGNC_15563-OMIM_619398-HP_0000005-GENCC_100004"	"HGNC:15563"	"IL37"	"MONDO:0030314"	"inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive"	"OMIM:619398"	"?Inflammatory bowel disease (infantile ulcerative colitis) 31"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15563"	"IL37"	"OMIM:619398"	"?Inflammatory bowel disease (infantile ulcerative colitis) 31"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-07-07 11:54:08"	""	""	"28181534, 32114511"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL370IL37rel"	"2023-11-30"
"GENCC_000106-HGNC_6019-OMIM_618944-HP_0000007-GENCC_100002"	"HGNC:6019"	"IL6R"	"MONDO:0030069"	"hyper-IgE recurrent infection syndrome 5, autosomal recessive"	"OMIM:618944"	"Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6019"	"IL6R"	"OMIM:618944"	"Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-17 14:22:31"	""	""	"14680981, 15306846, 17357077, 27899403, 31235509, 31778705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL6R0HyperIgEinf"	"2023-11-30"
"GENCC_000106-HGNC_6021-OMIM_619752-HP_0000006-GENCC_100002"	"HGNC:6021"	"IL6ST"	"MONDO:0800131"	"hyper-IgE recurrent infection syndrome 4A, autosomal dominant"	"OMIM:619752"	"Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6021"	"IL6ST"	"OMIM:619752"	"Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:30:42"	""	""	"32207811"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL6ST0HyperIgEinf"	"2023-11-30"
"GENCC_000106-HGNC_26019-OMIM_614078-HP_0000007-GENCC_100002"	"HGNC:26019"	"BPNT2"	"MONDO:0013561"	"chondrodysplasia with joint dislocations, gPAPP type"	"OMIM:614078"	"Chondrodysplasia with joint dislocations, GPAPP type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26019"	"BPNT2"	"OMIM:614078"	"chondrodysplasia with joint dislocations, gPAPP type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:23:31"	""	""	"18695242, 21549340, 21834032, 2288772, 22887726"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IMPAD10Chondrodys"	"2023-11-30"
"GENCC_000106-HGNC_6052-OMIM_613837-HP_0000006-GENCC_100004"	"HGNC:6052"	"IMPDH1"	"MONDO:0013454"	"Leber congenital amaurosis 11"	"OMIM:613837"	"Leber congenital amaurosis 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6052"	"IMPDH1"	"OMIM:613837"	"Leber congenital amaurosis 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"16384941, 23661368"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IMPDH10Leber"	"2023-11-30"
"GENCC_000106-HGNC_6052-OMIM_180105-HP_0000006-GENCC_100002"	"HGNC:6052"	"IMPDH1"	"MONDO:0008379"	"retinitis pigmentosa 10"	"OMIM:180105"	"Retinitis pigmentosa 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6052"	"IMPDH1"	"OMIM:180105"	"retinitis pigmentosa 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-28 03:24:24"	""	""	"11875050, 14722619, 14981049, 15851576, 15882147, 16384941, 16671097, 16936083, 21791244, 25439607, 29555955"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IMPDH10RP"	"2023-11-30"
"GENCC_000106-HGNC_6055-OMIM_616151-HP_0000006-GENCC_100002"	"HGNC:6055"	"IMPG1"	"MONDO:0014508"	"vitelliform macular dystrophy 4"	"OMIM:616151"	"Macular dystrophy, vitelliform, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6055"	"IMPG1"	"OMIM:616151"	"vitelliform macular dystrophy 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-31 14:57:20"	""	""	"23993198, 28041643, 28644393, 30300315, 30688845, 32817297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IMPG10MacularDys02"	"2023-11-30"
"GENCC_000106-HGNC_18362-OMIM_616152-HP_0000005-GENCC_100004"	"HGNC:18362"	"IMPG2"	"MONDO:0014509"	"vitelliform macular dystrophy 5"	"OMIM:616152"	"Macular dystrophy, vitelliform, 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18362"	"IMPG2"	"OMIM:616152"	"vitelliform macular dystrophy 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-11 14:22:33"	""	""	"20673862, 25085631, 28644393, 30300315, 31264916"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IMPG20MacularDys"	"2023-11-30"
"GENCC_000106-HGNC_4586-OMIM_616139-HP_0000006-GENCC_100002"	"HGNC:4586"	"GRIN2B"	"MONDO:0014505"	"developmental and epileptic encephalopathy, 27"	"OMIM:616139"	"Developmental and epileptic encephalopathy 27"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4586"	"GRIN2B"	"OMIM:616139"	"Developmental and epileptic encephalopathy 27"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 08:04:15"	""	""	"20890276, 24272827, 28377535, 28533163"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIN2B0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_9382-OMIM_616176-HP_0000007-GENCC_100004"	"HGNC:9382"	"PRKACG"	"MONDO:0014518"	"platelet-type bleeding disorder 19"	"OMIM:616176"	"?Bleeding disorder, platelet-type, 19"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9382"	"PRKACG"	"OMIM:616176"	"?Bleeding disorder, platelet-type, 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:55"	""	""	"25061177, 30550360, 30819905"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKACG0?Bleedin"	"2023-11-30"
"GENCC_000106-HGNC_21474-OMIM_213300-HP_0000007-GENCC_100002"	"HGNC:21474"	"INPP5E"	"MONDO:0008944"	"Joubert syndrome 1"	"OMIM:213300"	"Joubert syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21474"	"INPP5E"	"OMIM:213300"	"Joubert syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:48"	""	""	"156220, 16493448, 19668215, 19668216, 23034536, 23386033, 28125082, 281834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INPP5E0Joubert"	"2023-11-30"
"GENCC_000106-HGNC_6081-OMIM_613370-HP_0000006-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0013240"	"maturity-onset diabetes of the young type 10"	"OMIM:613370"	"Maturity-onset diabetes of the young, type 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6081"	"INS"	"OMIM:613370"	"maturity-onset diabetes of the young type 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-05 20:38:59"	""	""	"12540615, 17898179, 18192540, 20007936, 20226046, 20948967, 22357960, 24770419, 9884331"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INS0MODY"	"2023-11-30"
"GENCC_000106-HGNC_6081-OMIM_618858-HP_0000006-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0030089"	"diabetes mellitus, permanent neonatal 4"	"OMIM:618858"	"Diabetes mellitus, permanent neonatal 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6081"	"INS"	"OMIM:618858"	"diabetes mellitus, permanent neonatal 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 15:39:19"	""	""	"12540615, 17855560, 17898179, 18162506, 18171712, 18451997, 19952343, 20034470, 20938745, 20948967, 22357960, 24770419, 7303807, 9884331"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INS0PermNeoDiabMel"	"2023-11-30"
"GENCC_000106-HGNC_6081-OMIM_618858-HP_0000007-GENCC_100002"	"HGNC:6081"	"INS"	"MONDO:0030089"	"diabetes mellitus, permanent neonatal 4"	"OMIM:618858"	"Diabetes mellitus, permanent neonatal 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6081"	"INS"	"OMIM:618858"	"diabetes mellitus, permanent neonatal 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 15:39:19"	""	""	"20133622, 23245869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INS0PermNeoDiabMel02"	"2023-11-30"
"GENCC_000106-HGNC_6091-OMIM_609968-HP_0000006-GENCC_100002"	"HGNC:6091"	"INSR"	"MONDO:0012381"	"hyperinsulinism due to INSR deficiency"	"OMIM:609968"	"Hyperinsulinemic hypoglycemia, familial, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6091"	"INSR"	"OMIM:609968"	"hyperinsulinism due to INSR deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 14:05:50"	""	""	"11260230, 147670, 2002058, 22189999, 2479553, 7983039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INSR0HIHfamilial"	"2023-11-30"
"GENCC_000106-HGNC_6091-OMIM_246200-HP_0000007-GENCC_100002"	"HGNC:6091"	"INSR"	"MONDO:0009517"	"Donohue syndrome"	"OMIM:246200"	"Donohue syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6091"	"INSR"	"OMIM:246200"	"Donohue syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-19 20:52:48"	""	""	"12023989, 26160152"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INSR0LP"	"2023-11-30"
"GENCC_000106-HGNC_6091-OMIM_610549-HP_0000006-GENCC_100004"	"HGNC:6091"	"INSR"	"MONDO:0012520"	"insulin-resistance syndrome type A"	"OMIM:610549"	"Diabetes mellitus, insulin-resistant, with acanthosis nigricans"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6091"	"INSR"	"OMIM:610549"	"insulin-resistance syndrome type A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-26 06:39:42"	""	""	"147670, 1607076, 19688022, 2544998, 7657032"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INSR0NIDDM"	"2023-11-30"
"GENCC_000106-HGNC_26048-OMIM_618572-HP_0000005-GENCC_100004"	"HGNC:26048"	"INTS8"	"MONDO:0032818"	"neurodevelopmental disorder with cerebellar hypoplasia and spasticity"	"OMIM:618572"	"?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26048"	"INTS8"	"OMIM:618572"	"neurodevelopmental disorder with cerebellar hypoplasia and spasticity"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-23 12:02:31"	""	""	"28542170"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INTS80ND0dysmorph"	"2023-11-30"
"GENCC_000106-HGNC_29239-OMIM_617926-HP_0000005-GENCC_100004"	"HGNC:29239"	"INTU"	"MONDO:0033375"	"orofaciodigital syndrome 17"	"OMIM:617926"	"?Orofaciodigital syndrome XVII"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29239"	"INTU"	"OMIM:617926"	"orofaciodigital syndrome 17"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-18 14:07:19"	""	""	"27158779, 29451301"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INTU0OFD"	"2023-11-30"
"GENCC_000106-HGNC_29239-OMIM_617925-HP_0000005-GENCC_100004"	"HGNC:29239"	"INTU"	"MONDO:0044328"	"short-rib thoracic dysplasia 20 with polydactyly"	"OMIM:617925"	"?Short-rib thoracic dysplasia 20 with polydactyly"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29239"	"INTU"	"OMIM:617925"	"?Short-rib thoracic dysplasia 20 with polydactyly"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:07"	""	""	"27158779, 29068549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"INTU0SRPS"	"2023-11-30"
"GENCC_000106-HGNC_6898-OMIM_616280-HP_0000006-GENCC_100002"	"HGNC:6898"	"MARS1"	"MONDO:0014566"	"Charcot-Marie-Tooth disease axonal type 2U"	"OMIM:616280"	"Charcot-Marie-Tooth disease, axonal, type 2U"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6898"	"MARS1"	"OMIM:616280"	"Charcot-Marie-Tooth disease, axonal, type 2U"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-20 18:46:44"	""	""	"23729695, 24354524, 24482476, 27025386, 27717217, 29582526, 35723632"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MARS0CMT"	"2023-11-30"
"GENCC_000106-HGNC_29171-OMIM_617642-HP_0000007-GENCC_100004"	"HGNC:29171"	"IQCE"	"MONDO:0060550"	"polydactyly, postaxial, type a7"	"OMIM:617642"	"Polydactyly, postaxial, type A7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29171"	"IQCE"	"OMIM:617642"	"polydactyly, postaxial, type a7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-10-25 14:06:56"	""	""	"28488682, 31549751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IQCE0Polydactyly"	"2023-11-30"
"GENCC_000106-HGNC_21729-OMIM_617765-HP_0000005-GENCC_100004"	"HGNC:21729"	"IRF2BP2"	"MONDO:0054691"	"immunodeficiency, common variable, 14"	"OMIM:617765"	"?Immunodeficiency, common variable, 14"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21729"	"IRF2BP2"	"OMIM:617765"	"?Immunodeficiency, common variable, 14"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-28 14:23:53"	""	""	"27016798, 29867916, 32185379, 33859323, 33864888, 34451894, 36193988"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF2BP20CVID"	"2023-11-30"
"GENCC_000106-HGNC_6121-OMIM_608864-HP_0000005-GENCC_100004"	"HGNC:6121"	"IRF6"	"MONDO:0012141"	"orofacial cleft 6, susceptibility to"	"OMIM:608864"	"{Orofacial cleft 6}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6121"	"IRF6"	"OMIM:608864"	"{Orofacial cleft 6}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-02-23 19:40:50"	""	""	"28361103"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF60Orofacial"	"2023-11-30"
"GENCC_000106-HGNC_4114-OMIM_616461-HP_0000006-GENCC_100004"	"HGNC:4114"	"GAL"	"MONDO:0014650"	"familial temporal lobe epilepsy 8"	"OMIM:616461"	"?Epilepsy, familial temporal lobe, 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4114"	"GAL"	"OMIM:616461"	"?Epilepsy, familial temporal lobe, 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-08 14:54:08"	""	""	"18500639, 25691535"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GAL0Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_11363-OMIM_616636-HP_0000007-GENCC_100002"	"HGNC:11363"	"STAT2"	"MONDO:0014715"	"primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"	"OMIM:616636"	"Immunodeficiency 44"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11363"	"STAT2"	"OMIM:616636"	"Immunodeficiency 44"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-18 15:08:05"	""	""	"23391734, 26122121, 26408653, 28087227, 31102697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT20STAT2def"	"2023-11-30"
"GENCC_000106-HGNC_37276-OMIM_614643-HP_0000007-GENCC_100002"	"HGNC:37276"	"CRPPA"	"MONDO:0013835"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"	"OMIM:614643"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:37276"	"CRPPA"	"OMIM:614643"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 21:19:37"	""	""	"22522420, 22522421, 23288328, 23390185"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ISPD0ADG"	"2023-11-30"
"GENCC_000106-HGNC_6138-OMIM_187800-HP_0000006-GENCC_100002"	"HGNC:6138"	"ITGA2B"	"MONDO:0008552"	"platelet-type bleeding disorder 16"	"OMIM:187800"	"Bleeding disorder, platelet-type, 16, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6138"	"ITGA2B"	"OMIM:187800"	"platelet-type bleeding disorder 16"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 09:24:20"	""	""	"19336737, 21454453, 23253071, 24498605"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGA2B0Macroth"	"2023-11-30"
"GENCC_000106-HGNC_11474-OMIM_616684-HP_0000007-GENCC_100002"	"HGNC:11474"	"SURF1"	"MONDO:0014733"	"Charcot-Marie-Tooth disease type 4K"	"OMIM:616684"	"Charcot-Marie-Tooth disease, type 4K"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11474"	"SURF1"	"OMIM:616684"	"Charcot-Marie-Tooth disease, type 4K"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"24027061, 27475922"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SURF10CMT"	"2023-11-30"
"GENCC_000106-HGNC_6158-OMIM_226650-HP_0000007-GENCC_100002"	"HGNC:6158"	"ITGB4"	"MONDO:0009180"	"junctional epidermolysis bullosa, non-Herlitz type"	"OMIM:226650"	"Epidermolysis bullosa, junctional 1A, intermediate"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6158"	"ITGB4"	"OMIM:226650"	"generalized junctional epidermolysis bullosa non-Herlitz type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:06"	""	""	"11328943, 16473856"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGB40EpidermBull"	"2023-11-30"
"GENCC_000106-HGNC_6158-OMIM_131800-HP_0000005-GENCC_100004"	"HGNC:6158"	"ITGB4"	"MONDO:0007551"	"epidermolysis bullosa simplex 1C, localized"	"OMIM:131800"	"Epidermolysis bullosa simplex 1C, localized"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6158"	"ITGB4"	"OMIM:131800"	"epidermolysis bullosa simplex 1C, localized"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-18 13:40:51"	""	""	"26817667"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITGB40EpidermBull02"	"2023-11-30"
"GENCC_000106-HGNC_23573-OMIM_616688-HP_0000006-GENCC_100002"	"HGNC:23573"	"MORC2"	"MONDO:0014736"	"Charcot-Marie-Tooth disease axonal type 2Z"	"OMIM:616688"	"Charcot-Marie-Tooth disease, axonal, type 2Z"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23573"	"MORC2"	"OMIM:616688"	"Charcot-Marie-Tooth disease, axonal, type 2Z"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 14:50:22"	""	""	"26497905, 26659848, 26912637, 27105897, 27329773, 28771897, 33333791, 34059105, 34189813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MORC20CMT"	"2023-11-30"
"GENCC_000106-HGNC_6174-OMIM_616079-HP_0000006-GENCC_100004"	"HGNC:6174"	"ITM2B"	"MONDO:0014483"	"retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"	"OMIM:616079"	"?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6174"	"ITM2B"	"OMIM:616079"	"retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-22 10:37:56"	""	""	"31731182"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITM2B0RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_6180-OMIM_117360-HP_0000006-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0007298"	"spinocerebellar ataxia type 29"	"OMIM:117360"	"Spinocerebellar ataxia 29, congenital nonprogressive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6180"	"ITPR1"	"OMIM:117360"	"spinocerebellar ataxia type 29"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 08:20:58"	""	""	"21555639, 22986007, 27062503, 27108797, 28620721, 29196976, 29925855, 8279653"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITPR10EOA"	"2023-11-30"
"GENCC_000106-HGNC_6180-OMIM_606658-HP_0000006-GENCC_100002"	"HGNC:6180"	"ITPR1"	"MONDO:0011694"	"spinocerebellar ataxia type 15/16"	"OMIM:606658"	"Spinocerebellar ataxia 15"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6180"	"ITPR1"	"OMIM:606658"	"spinocerebellar ataxia type 15/16"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-12 16:06:34"	""	""	"17590087, 20082166, 20301536, 21367767, 21555639, 25794864, 27108797"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITPR10SCAR"	"2023-11-30"
"GENCC_000106-HGNC_31582-OMIM_616722-HP_0000006-GENCC_100002"	"HGNC:31582"	"MIR204"	"MONDO:0014747"	"familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"	"OMIM:616722"	"Retinal dystrophy and iris coloboma with or without cataract"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31582"	"MIR204"	"OMIM:616722"	"Retinal dystrophy and iris coloboma with or without cataract"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"26056285"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIR2040MIR204rel"	"2023-11-30"
"GENCC_000106-HGNC_6188-OMIM_118450-HP_0000006-GENCC_100002"	"HGNC:6188"	"JAG1"	"MONDO:0016862"	"Alagille syndrome due to a JAG1 point mutation"	"OMIM:118450"	"Alagille syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6188"	"JAG1"	"OMIM:118450"	"Alagille syndrome due to a JAG1 point mutation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 02:17:36"	""	""	"11180599, 16575836, 20301450, 21934706"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAG10Alagille"	"2023-11-30"
"GENCC_000106-HGNC_6188-OMIM_619574-HP_0000006-GENCC_100002"	"HGNC:6188"	"JAG1"	"MONDO:0030458"	"Charcot-Marie-Tooth disease, axonal, Type 2HH"	"OMIM:619574"	"Charcot-Marie-Tooth disease, axonal, type 2HH"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6188"	"JAG1"	"OMIM:619574"	"Charcot-Marie-Tooth disease, axonal, Type 2HH"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 09:40:52"	""	""	"32065591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAG10CMT"	"2023-11-30"
"GENCC_000106-HGNC_26624-OMIM_617337-HP_0000006-GENCC_100002"	"HGNC:26624"	"KDF1"	"MONDO:0015024"	"ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"	"OMIM:617337"	"?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26624"	"KDF1"	"OMIM:617337"	"?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-09-04 12:11:38"	""	""	"20977908, 24075906, 27838789, 30384154, 30977908, 35641834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDF10EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_6190-OMIM_618999-HP_0000006-GENCC_100002"	"HGNC:6190"	"JAK1"	"MONDO:0033558"	"autoinflammation, immune dysregulation, and eosinophilia"	"OMIM:618999"	"Autoinflammation, immune dysregulation, and eosinophilia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6190"	"JAK1"	"OMIM:618999"	"autoinflammation, immune dysregulation, and eosinophilia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-27 20:03:14"	""	""	"18362173, 27513193, 28111307, 28410228, 32750333, 35046931, 37343845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAK10IRD-HES"	"2023-11-30"
"GENCC_000106-HGNC_6192-OMIM_614521-HP_0000006-GENCC_100002"	"HGNC:6192"	"JAK2"	"MONDO:0013794"	"thrombocythemia 3"	"OMIM:614521"	"Thrombocythemia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6192"	"JAK2"	"OMIM:614521"	"thrombocythemia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 20:52:47"	""	""	"20034386, 22397670, 23535062, 24381227, 24398328, 29567786, 31428969"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAK20Thrombocythemia"	"2023-11-30"
"GENCC_000106-HGNC_14686-OMIM_618824-HP_0000007-GENCC_100002"	"HGNC:14686"	"JAM2"	"MONDO:0032938"	"basal ganglia calcification, idiopathic, 8, autosomal recessive"	"OMIM:618824"	"Basal ganglia calcification, idiopathic, 8, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14686"	"JAM2"	"OMIM:618824"	"basal ganglia calcification, idiopathic, 8, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-10 14:02:46"	""	""	"31851307, 32142645"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAM20BasalGanglia"	"2023-11-30"
"GENCC_000106-HGNC_6196-OMIM_620098-HP_0000006-GENCC_100002"	"HGNC:6196"	"JARID2"	"MONDO:0859306"	"developmental delay with variable intellectual disability and dysmorphic facies"	"OMIM:620098"	"Developmental delay with variable intellectual disability and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6196"	"JARID2"	"OMIM:620098"	"Developmental delay with variable intellectual disability and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-17 17:29:27"	""	""	"23294540, 27620904, 29089047, 33077894, 35533077"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JARID20JARID2rel"	"2023-11-30"
"GENCC_000106-HGNC_29068-OMIM_616784-HP_0000007-GENCC_100002"	"HGNC:29068"	"KATNIP"	"MONDO:0014771"	"Joubert syndrome 26"	"OMIM:616784"	"Joubert syndrome 26"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29068"	"KATNIP"	"OMIM:616784"	"Joubert syndrome 26"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 11:03:18"	""	""	"26714646, 27245168"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA05560Joubert"	"2023-11-30"
"GENCC_000106-HGNC_14202-OMIM_613873-HP_0000006-GENCC_100002"	"HGNC:14202"	"JPH2"	"MONDO:0013474"	"hypertrophic cardiomyopathy 17"	"OMIM:613873"	"Cardiomyopathy, hypertrophic, 17"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14202"	"JPH2"	"OMIM:613873"	"hypertrophic cardiomyopathy 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-11-12 15:17:10"	""	""	"17509612, 22389502, 23973696, 24001019, 26573135, 27471098, 28393127, 28798025, 29121657, 29540472, 30235249, 30847666, 31918855, 32368696, 32880476, 33500567, 33673806, 34036930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JPH20HCM"	"2023-11-30"
"GENCC_000106-HGNC_19309-OMIM_612900-HP_0000005-GENCC_100004"	"HGNC:19309"	"KANK1"	"MONDO:0013033"	"cerebral palsy, spastic quadriplegic, 2"	"OMIM:612900"	"Cerebral palsy, spastic quadriplegic, 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19309"	"KANK1"	"OMIM:612900"	"cerebral palsy, spastic quadriplegic, 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-02-05 10:02:10"	""	""	"16301218, 23454270, 25817843, 26236009, 26539891, 30684669"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KANK10Cerebral03"	"2023-11-30"
"GENCC_000106-HGNC_22962-OMIM_616789-HP_0000006-GENCC_100002"	"HGNC:22962"	"MED13L"	"MONDO:0014773"	"cardiac anomalies - developmental delay - facial dysmorphism syndrome"	"OMIM:616789"	"Impaired intellectual development and distinctive facial features with or without cardiac defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:22962"	"MED13L"	"OMIM:616789"	"Impaired intellectual development and distinctive facial features with or without cardiac defects"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-03 00:49:38"	""	""	"14638541, 23403903, 24781760, 25167861, 25356899, 25712080, 25758992, 29159987, 29511999, 31337854"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED13L0MED13Lrel"	"2023-11-30"
"GENCC_000106-HGNC_24268-OMIM_616867-HP_0000007-GENCC_100002"	"HGNC:24268"	"ASCC1"	"MONDO:0014807"	"spinal muscular atrophy with congenital bone fractures 2"	"OMIM:616867"	"Spinal muscular atrophy with congenital bone fractures 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24268"	"ASCC1"	"OMIM:616867"	"Spinal muscular atrophy with congenital bone fractures 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 15:49:57"	""	""	"26924529, 28218388, 28749478, 30327447, 31680123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ASCC10?SpinalM"	"2023-11-30"
"GENCC_000106-HGNC_6215-OMIM_613916-HP_0000007-GENCC_100002"	"HGNC:6215"	"KARS1"	"MONDO:0013489"	"autosomal recessive nonsyndromic hearing loss 89"	"OMIM:613916"	"Deafness, autosomal recessive 89"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6215"	"KARS1"	"OMIM:613916"	"autosomal recessive nonsyndromic hearing loss 89"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-03-12 08:34:53"	""	""	"23768514"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KARS0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_7737-OMIM_616924-HP_0000006-GENCC_100002"	"HGNC:7737"	"NEFH"	"MONDO:0014836"	"Charcot-Marie-Tooth disease axonal type 2CC"	"OMIM:616924"	"Charcot-Marie-Tooth disease, axonal, type 2CC"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7737"	"NEFH"	"OMIM:616924"	"Charcot-Marie-Tooth disease, axonal, type 2CC"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 18:35:54"	""	""	"27040688, 28709447, 35091664"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEFH0CMT"	"2023-11-30"
"GENCC_000106-HGNC_6215-OMIM_619147-HP_0000007-GENCC_100002"	"HGNC:6215"	"KARS1"	"MONDO:0030893"	"leukoencephalopathy, progressive, infantile-onset, with or without deafness"	"OMIM:619147"	"Leukoencephalopathy, progressive, infantile-onset, with or without deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6215"	"KARS1"	"OMIM:619147"	"leukoencephalopathy, progressive, infantile-onset, with or without deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 22:50:28"	""	""	"23596069, 27243033, 29615062, 30252186, 30369941, 31116475"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KARS0Leighsyn"	"2023-11-30"
"GENCC_000106-HGNC_17933-OMIM_618974-HP_0000007-GENCC_100004"	"HGNC:17933"	"KAT8"	"MONDO:0033547"	"Li-Ghorbani-Weisz-Hubshman syndrome"	"OMIM:618974"	"Li-Ghorgani-Weisz-Hubshman syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17933"	"KAT8"	"OMIM:618974"	"Li-Ghorbani-Weisz-Hubshman syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-19 12:32:23"	""	""	"31794431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KAT80KAT8ARrel"	"2023-11-30"
"GENCC_000106-HGNC_11283-OMIM_616937-HP_0000006-GENCC_100004"	"HGNC:11283"	"SRC"	"MONDO:0014837"	"thrombocytopenia 6"	"OMIM:616937"	"?Thrombocytopenia 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11283"	"SRC"	"OMIM:616937"	"?Thrombocytopenia 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 07:03:50"	""	""	"26936507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRC0?Thrombo02"	"2023-11-30"
"GENCC_000106-HGNC_37227-OMIM_609273-HP_0000005-GENCC_100004"	"HGNC:37227"	"KBTBD13"	"MONDO:0012237"	"nemaline myopathy 6"	"OMIM:609273"	"Nemaline myopathy 6, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:37227"	"KBTBD13"	"OMIM:609273"	"childhood-onset nemaline myopathy"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-11-10 08:48:15"	""	""	"28403181, 31167812"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KBTBD130LGMD"	"2023-11-30"
"GENCC_000106-HGNC_6218-OMIM_160120-HP_0000006-GENCC_100002"	"HGNC:6218"	"KCNA1"	"MONDO:0008047"	"episodic ataxia type 1"	"OMIM:160120"	"Episodic ataxia/myokymia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6218"	"KCNA1"	"OMIM:160120"	"episodic ataxia type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-29 11:39:57"	""	""	"11026449, 11773313, 1287821998, 17395136, 18926884, 20660867, 21307345, 2245301, 23349320, 24578548, 25642194, 26347608, 26395884, 3504247, 7842011, 8541859, 8845167, 9526001"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNA10AtaxiaEpisod"	"2023-11-30"
"GENCC_000106-HGNC_6220-OMIM_616366-HP_0000006-GENCC_100002"	"HGNC:6220"	"KCNA2"	"MONDO:0014607"	"developmental and epileptic encephalopathy, 32"	"OMIM:616366"	"Developmental and epileptic encephalopathy 32"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6220"	"KCNA2"	"OMIM:616366"	"Developmental and epileptic encephalopathy 32"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 10:11:26"	""	""	"17634333, 22612818, 25751627, 25950944, 26648591, 27733563, 29050392, 31054490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNA20EpilepEnceph"	"2023-11-30"
"GENCC_000106-HGNC_6222-OMIM_618284-HP_0000005-GENCC_100004"	"HGNC:6222"	"KCNA4"	"MONDO:0032656"	"microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum"	"OMIM:618284"	"Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6222"	"KCNA4"	"OMIM:618284"	"microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"27582084, 28714951, 32508047, 9547391"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNA40KCNA4-rel"	"2023-11-30"
"GENCC_000106-HGNC_11633-OMIM_616941-HP_0000007-GENCC_100002"	"HGNC:11633"	"TCF3"	"MONDO:0014840"	"agammaglobulinemia 8, autosomal dominant"	"OMIM:616941"	"Agammaglobulinemia 8A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11633"	"TCF3"	"OMIM:616941"	"Agammaglobulinemia 8A, autosomal dominant"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 19:54:53"	""	""	"19752184, 24216514, 28532655, 30063982, 37277074, 8001124, 8001125"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCF30Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_6233-OMIM_616187-HP_0000006-GENCC_100002"	"HGNC:6233"	"KCNC1"	"MONDO:0014521"	"progressive myoclonic epilepsy type 7"	"OMIM:616187"	"Epilepsy, progressive myoclonic 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6233"	"KCNC1"	"OMIM:616187"	"progressive myoclonic epilepsy type 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-23 20:36:31"	""	""	"25401298, 31353862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNC10EPM1"	"2023-11-30"
"GENCC_000106-HGNC_6234-OMIM_619913-HP_0000006-GENCC_100002"	"HGNC:6234"	"KCNC2"	"MONDO:0030957"	"developmental and epileptic encephalopathy 103"	"OMIM:619913"	"Developmental and epileptic encephalopathy 103"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6234"	"KCNC2"	"OMIM:619913"	"developmental and epileptic encephalopathy 103"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-13 17:00:43"	""	""	"23475819, 28714951, 29168350, 30314295, 31972370, 32392612, 33111300, 35314505"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNC20KCNC2rel"	"2023-11-30"
"GENCC_000106-HGNC_6239-OMIM_607346-HP_0000006-GENCC_100002"	"HGNC:6239"	"KCND3"	"MONDO:0011819"	"spinocerebellar ataxia type 19/22"	"OMIM:607346"	"Spinocerebellar ataxia 19"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6239"	"KCND3"	"OMIM:607346"	"spinocerebellar ataxia type 19/22"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 03:59:42"	""	""	"23280837, 25854634, 34361012"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCND30SCA"	"2023-11-30"
"GENCC_000106-HGNC_11633-OMIM_616941-HP_0000006-GENCC_100002"	"HGNC:11633"	"TCF3"	"MONDO:0014840"	"agammaglobulinemia 8, autosomal dominant"	"OMIM:616941"	"Agammaglobulinemia 8A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11633"	"TCF3"	"OMIM:616941"	"Agammaglobulinemia 8A, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 19:54:53"	""	""	"21693761, 24216514, 26122175, 35976539"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCF30Agammaglob02"	"2023-11-30"
"GENCC_000106-HGNC_3438-OMIM_616946-HP_0000005-GENCC_100004"	"HGNC:3438"	"ERCC6"	"MONDO:0014843"	"premature ovarian failure 11"	"OMIM:616946"	"Premature ovarian failure 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3438"	"ERCC6"	"OMIM:616946"	"Premature ovarian failure 11"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-13 21:01:00"	""	""	"26218421, 33036707, 33538981, 35975393"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERCC60POI"	"2023-11-30"
"GENCC_000106-HGNC_6250-OMIM_611816-HP_0000006-GENCC_100002"	"HGNC:6250"	"KCNH1"	"MONDO:0012735"	"Temple-Baraitser syndrome"	"OMIM:611816"	"Temple-Baraitser syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6250"	"KCNH1"	"OMIM:611816"	"Temple-Baraitser syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-26 12:48:06"	""	""	"25420144, 25915598, 26818738, 33594261"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNH10TempleBaraitser"	"2023-11-30"
"GENCC_000106-HGNC_6251-OMIM_613688-HP_0000006-GENCC_100002"	"HGNC:6251"	"KCNH2"	"MONDO:0013367"	"long QT syndrome 2"	"OMIM:613688"	"{Long QT syndrome, acquired, reduced susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6251"	"KCNH2"	"OMIM:613688"	"long QT syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-25 19:07:02"	""	""	"10973849, 19862833"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNH20LongQT"	"2023-11-30"
"GENCC_000106-HGNC_6251-OMIM_609620-HP_0000006-GENCC_100002"	"HGNC:6251"	"KCNH2"	"MONDO:0012312"	"short QT syndrome type 1"	"OMIM:609620"	"Short QT syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6251"	"KCNH2"	"OMIM:609620"	"short QT syndrome type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 08:14:10"	""	""	"16926178, 19088443, 19862833, 24400717"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNH20ShortQT"	"2023-11-30"
"GENCC_000106-HGNC_6257-OMIM_610582-HP_0000006-GENCC_100004"	"HGNC:6257"	"KCNJ11"	"MONDO:0012522"	"diabetes mellitus, transient neonatal, 3"	"OMIM:610582"	"Diabetes mellitus, transient neonatal 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6257"	"KCNJ11"	"OMIM:610582"	"diabetes mellitus, transient neonatal, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-07 14:15:53"	""	""	"11318841, 11375491, 12524541, 12540637, 15784703, 22082043, 9867219"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ110DiabetesMell"	"2023-11-30"
"GENCC_000106-HGNC_6257-OMIM_616329-HP_0000006-GENCC_100002"	"HGNC:6257"	"KCNJ11"	"MONDO:0014589"	"maturity-onset diabetes of the young type 13"	"OMIM:616329"	"Maturity-onset diabetes of the young, type 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6257"	"KCNJ11"	"OMIM:616329"	"maturity-onset diabetes of the young type 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 13:55:22"	""	""	"15583126, 17021801, 17327377, 17446535, 17668386, 18767144, 19065048, 22701567, 24622368"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ110KCNJ11EOD"	"2023-11-30"
"GENCC_000106-HGNC_28852-OMIM_616947-HP_0000007-GENCC_100002"	"HGNC:28852"	"SYCE1"	"MONDO:0014844"	"premature ovarian failure 12"	"OMIM:616947"	"?Premature ovarian failure 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28852"	"SYCE1"	"OMIM:616947"	"?Premature ovarian failure 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:09:05"	""	""	"21637789, 25062452, 9247432"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYCE10POF"	"2023-11-30"
"GENCC_000106-HGNC_6263-OMIM_170390-HP_0000006-GENCC_100002"	"HGNC:6263"	"KCNJ2"	"MONDO:0008222"	"Andersen-Tawil syndrome"	"OMIM:170390"	"Andersen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6263"	"KCNJ2"	"OMIM:170390"	"Andersen-Tawil syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-07 13:46:57"	""	""	"12163457, 15276028, 16943893, 19843922, 19862833, 21148745, 21493816, 21875779, 22166941, 22186697, 22589293, 23644778, 33205612, 33857643, 34078557"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ20Andersen"	"2023-11-30"
"GENCC_000106-HGNC_28852-OMIM_616950-HP_0000007-GENCC_100002"	"HGNC:28852"	"SYCE1"	"MONDO:0014847"	"spermatogenic failure 15"	"OMIM:616950"	"?Spermatogenic failure 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28852"	"SYCE1"	"OMIM:616950"	"?Spermatogenic failure 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:25:15"	""	""	"246392, 25899990, 31916078"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYCE10Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_6266-OMIM_613677-HP_0000006-GENCC_100002"	"HGNC:6266"	"KCNJ5"	"MONDO:0013359"	"familial hyperaldosteronism type III"	"OMIM:613677"	"Hyperaldosteronism, familial, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6266"	"KCNJ5"	"OMIM:613677"	"familial hyperaldosteronism type III"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 16:04:45"	""	""	"22203740, 22308486, 22628607, 23229280, 24037882, 24420545, 24819081, 25322277, 27403928, 30975432, 32561571"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ50Aldosteronism"	"2023-11-30"
"GENCC_000106-HGNC_6266-OMIM_613485-HP_0000006-GENCC_100004"	"HGNC:6266"	"KCNJ5"	"MONDO:0013279"	"long QT syndrome 13"	"OMIM:613485"	"Long QT syndrome 13"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6266"	"KCNJ5"	"OMIM:613485"	"long QT syndrome 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-04 11:22:53"	""	""	"20560207, 24574546, 31737537, 9459446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ50LongQT"	"2023-11-30"
"GENCC_000106-HGNC_6269-OMIM_239850-HP_0000006-GENCC_100002"	"HGNC:6269"	"KCNJ8"	"MONDO:0009406"	"hypertrichotic osteochondrodysplasia Cantu type"	"OMIM:239850"	"Hypertrichotic osteochondrodysplasia (Cantu syndrome)"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6269"	"KCNJ8"	"OMIM:239850"	"hypertrichotic osteochondrodysplasia Cantu type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:04:43"	""	""	"24176758, 24700710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ80Cantu"	"2023-11-30"
"GENCC_000106-HGNC_19439-OMIM_613656-HP_0000005-GENCC_100004"	"HGNC:19439"	"KCNK18"	"MONDO:0013344"	"migraine, with or without aura, susceptibility to, 13"	"OMIM:613656"	"{Migraine, with or without aura, susceptibility to, 13}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19439"	"KCNK18"	"OMIM:613656"	"migraine, with or without aura, susceptibility to, 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 12:34:40"	""	""	"20871611, 25324165, 30027842, 30573346, 30631761, 32394190"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNK180KCNK18Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_6278-OMIM_615344-HP_0000006-GENCC_100002"	"HGNC:6278"	"KCNK3"	"MONDO:0014136"	"pulmonary hypertension, primary, 4"	"OMIM:615344"	"Pulmonary hypertension, primary, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6278"	"KCNK3"	"OMIM:615344"	"Pulmonary hypertension, primary, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:14"	""	""	"23883380, 27453251, 28388887, 28889099, 29650961"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNK30PulmHypertens"	"2023-11-30"
"GENCC_000106-HGNC_29099-OMIM_616954-HP_0000007-GENCC_100002"	"HGNC:29099"	"TELO2"	"MONDO:0014848"	"TELO2-related intellectual disability-neurodevelopmental disorder"	"OMIM:616954"	"You-Hoover-Fong syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29099"	"TELO2"	"OMIM:616954"	"You-Hoover-Fong syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 23:49:40"	""	""	"27132593, 28944240"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TELO20You-Hoov"	"2023-11-30"
"GENCC_000106-HGNC_6284-OMIM_609446-HP_0000006-GENCC_100002"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"OMIM:609446"	"Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6284"	"KCNMA1"	"OMIM:609446"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-15 13:48:51"	""	""	"1287821998, 15194823, 15937479, 17068770, 19204046, 19204188, 20620873, 26195193, 27567911, 29330545, 29356177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNMA10GenEps"	"2023-11-30"
"GENCC_000106-HGNC_6291-OMIM_619725-HP_0000006-GENCC_100002"	"HGNC:6291"	"KCNN2"	"MONDO:0859225"	"neurodevelopmental disorder with or without variable movement or behavioral abnormalities"	"OMIM:619725"	"Neurodevelopmental disorder with or without variable movement or behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6291"	"KCNN2"	"OMIM:619725"	"Neurodevelopmental disorder with or without variable movement or behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-31 10:07:31"	""	""	"11442353, 28240725, 32212350, 33242881"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNN20KCNN2rel"	"2023-11-30"
"GENCC_000106-HGNC_6292-OMIM_618658-HP_0000006-GENCC_100002"	"HGNC:6292"	"KCNN3"	"MONDO:0032854"	"zimmermann-laband syndrome 3"	"OMIM:618658"	"Zimmermann-Laband syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6292"	"KCNN3"	"OMIM:618658"	"zimmermann-laband syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 15:18:59"	""	""	"31155282"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNN30Zimmerman"	"2023-11-30"
"GENCC_000106-HGNC_1395-OMIM_617027-HP_0000006-GENCC_100002"	"HGNC:1395"	"CACNA1H"	"MONDO:0014875"	"hyperaldosteronism, familial, type IV"	"OMIM:617027"	"Hyperaldosteronism, familial, type IV"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1395"	"CACNA1H"	"OMIM:617027"	"Hyperaldosteronism, familial, type IV"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:00"	""	""	"25907736, 27258646, 27729216"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1H0Aldosteronism"	"2023-11-30"
"GENCC_000106-HGNC_6294-OMIM_220400-HP_0000007-GENCC_100002"	"HGNC:6294"	"KCNQ1"	"MONDO:0024540"	"Jervell and Lange-Nielsen syndrome 1"	"OMIM:220400"	"Jervell and Lange-Nielsen syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6294"	"KCNQ1"	"OMIM:220400"	"Jervell and Lange-Nielsen syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 22:32:43"	""	""	"19862833, 22539601, 9323054"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ10JervellLange"	"2023-11-30"
"GENCC_000106-HGNC_20093-OMIM_617030-HP_0000007-GENCC_100002"	"HGNC:20093"	"ADSS1"	"MONDO:0014877"	"myopathy, distal, 5"	"OMIM:617030"	"Myopathy, distal, 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20093"	"ADSS1"	"OMIM:617030"	"Myopathy, distal, 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:18:46"	""	""	"26506222, 28268051"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ADSSL10DistalMyop"	"2023-11-30"
"GENCC_000106-HGNC_6408-OMIM_617041-HP_0000006-GENCC_100002"	"HGNC:6408"	"MAFB"	"MONDO:0014880"	"Duane retraction syndrome 3 with or without deafness"	"OMIM:617041"	"Duane retraction syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6408"	"MAFB"	"OMIM:617041"	"Duane retraction syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 06:47:36"	""	""	"27181683, 34964110"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAFB0DURS"	"2023-11-30"
"GENCC_000106-HGNC_6296-OMIM_121201-HP_0000006-GENCC_100002"	"HGNC:6296"	"KCNQ2"	"MONDO:0007366"	"seizures, benign familial neonatal, 2"	"OMIM:121201"	"Seizures, benign neonatal, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6296"	"KCNQ2"	"OMIM:121201"	"seizures, benign familial neonatal, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-18 07:56:13"	""	""	"14534157, 23360469, 25982755, 29215089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ20BFIS"	"2023-11-30"
"GENCC_000106-HGNC_6296-OMIM_613720-HP_0000006-GENCC_100002"	"HGNC:6296"	"KCNQ2"	"MONDO:0013387"	"developmental and epileptic encephalopathy, 7"	"OMIM:613720"	"Developmental and epileptic encephalopathy 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6296"	"KCNQ2"	"OMIM:613720"	"developmental and epileptic encephalopathy, 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 19:38:05"	""	""	"23692823, 25740509, 25959266, 25982755, 26758118, 27779742"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_6297-OMIM_121201-HP_0000006-GENCC_100002"	"HGNC:6297"	"KCNQ3"	"MONDO:0007366"	"seizures, benign familial neonatal, 2"	"OMIM:121201"	"Seizures, benign neonatal, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6297"	"KCNQ3"	"OMIM:121201"	"seizures, benign familial neonatal, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-18 14:07:30"	""	""	"18425618"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ30BFIS"	"2023-11-30"
"GENCC_000106-HGNC_6298-OMIM_600101-HP_0000006-GENCC_100002"	"HGNC:6298"	"KCNQ4"	"MONDO:0010817"	"autosomal dominant nonsyndromic hearing loss 2A"	"OMIM:600101"	"Deafness, autosomal dominant 2A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6298"	"KCNQ4"	"OMIM:600101"	"autosomal dominant nonsyndromic hearing loss 2A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-11 18:39:16"	""	""	"10025409, 10369879, 11450843, 12112653, 16437162, 16596322, 18941426, 20832469, 20966080, 23717403, 23750663, 23967202, 26036578"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNQ40Deafness"	"2023-11-30"
"GENCC_000106-HGNC_18865-OMIM_615005-HP_0000006-GENCC_100002"	"HGNC:18865"	"KCNT1"	"MONDO:0014002"	"autosomal dominant nocturnal frontal lobe epilepsy 5"	"OMIM:615005"	"Epilepsy nocturnal frontal lobe, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18865"	"KCNT1"	"OMIM:615005"	"autosomal dominant nocturnal frontal lobe epilepsy 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-14 22:21:48"	""	""	"23086396, 24463883, 24591078, 26122718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNT10ADNFLE"	"2023-11-30"
"GENCC_000106-HGNC_18865-OMIM_614959-HP_0000006-GENCC_100002"	"HGNC:18865"	"KCNT1"	"MONDO:0013989"	"developmental and epileptic encephalopathy, 14"	"OMIM:614959"	"Developmental and epileptic encephalopathy 14"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18865"	"KCNT1"	"OMIM:614959"	"developmental and epileptic encephalopathy, 14"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-23 22:04:40"	""	""	"23086397, 24591078, 25042079, 26122718, 26140313, 29196579"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNT10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_18866-OMIM_617771-HP_0000006-GENCC_100002"	"HGNC:18866"	"KCNT2"	"MONDO:0033366"	"developmental and epileptic encephalopathy, 57"	"OMIM:617771"	"Developmental and epileptic encephalopathy 57"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18866"	"KCNT2"	"OMIM:617771"	"developmental and epileptic encephalopathy, 57"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-19 18:00:14"	""	""	"29069600, 29740868"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNT20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_6305-OMIM_619131-HP_0000007-GENCC_100002"	"HGNC:6305"	"KDELR2"	"MONDO:0030861"	"osteogenesis imperfecta, type 21"	"OMIM:619131"	"Osteogenesis imperfecta, type XXI"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6305"	"KDELR2"	"OMIM:619131"	"Osteogenesis imperfecta, type XXI"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:00"	""	""	"33053334"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDELR20OI"	"2023-11-30"
"GENCC_000106-HGNC_10596-OMIM_617080-HP_0000006-GENCC_100002"	"HGNC:10596"	"SCN8A"	"MONDO:0014903"	"seizures, benign familial infantile, 5"	"OMIM:617080"	"Seizures, benign familial infantile, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10596"	"SCN8A"	"OMIM:617080"	"Seizures, benign familial infantile, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 18:14:29"	""	""	"27210545, 27875746, 28923014, 29263050, 31402610"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN8A0BFIS"	"2023-11-30"
"GENCC_000106-HGNC_5330-OMIM_617093-HP_0000007-GENCC_100002"	"HGNC:5330"	"IARS1"	"MONDO:0014911"	"growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy"	"OMIM:617093"	"Growth retardation, impaired intellectual development, hypotonia, and hepatopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5330"	"IARS1"	"OMIM:617093"	"Growth retardation, impaired intellectual development, hypotonia, and hepatopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 11:50:24"	""	""	"27426735, 27891590"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IARS0GrowthRe02"	"2023-11-30"
"GENCC_000106-HGNC_18039-OMIM_618109-HP_0000007-GENCC_100002"	"HGNC:18039"	"KDM5B"	"MONDO:0020850"	"intellectual disability, autosomal recessive 65"	"OMIM:618109"	"Intellectual developmental disorder, autosomal recessive 65"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18039"	"KDM5B"	"OMIM:618109"	"intellectual disability, autosomal recessive 65"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-04 13:53:59"	""	""	"23637629, 29276005, 30409806"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDM5B0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_11114-OMIM_300534-HP_0001417-GENCC_100002"	"HGNC:11114"	"KDM5C"	"MONDO:0010355"	"syndromic X-linked intellectual disability Claes-Jensen type"	"OMIM:300534"	"Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11114"	"KDM5C"	"OMIM:300534"	"syndromic X-linked intellectual disability Claes-Jensen type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 20:13:04"	""	""	"15586325, 18697827, 21575681, 22326837, 25666439, 32279304"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDM5C0XLID"	"2023-11-30"
"GENCC_000106-HGNC_29012-OMIM_618505-HP_0000006-GENCC_100002"	"HGNC:29012"	"KDM6B"	"MONDO:0032790"	"neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities"	"OMIM:618505"	"Stolerman neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29012"	"KDM6B"	"OMIM:618505"	"neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:28:39"	""	""	"21937992, 26077850, 28097321, 31124279"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDM6B0ID"	"2023-11-30"
"GENCC_000106-HGNC_3705-OMIM_617107-HP_0000007-GENCC_100002"	"HGNC:3705"	"FIBP"	"MONDO:0014918"	"tall stature-intellectual disability-renal anomalies syndrome"	"OMIM:617107"	"Thauvin-Robinet-Faivre syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3705"	"FIBP"	"OMIM:617107"	"Thauvin-Robinet-Faivre syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 03:16:44"	""	""	"26660953, 27183861, 31231135, 36919607, 37876348"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FIBP0Thauvin-"	"2023-11-30"
"GENCC_000106-HGNC_19960-OMIM_616490-HP_0000007-GENCC_100002"	"HGNC:19960"	"KIAA0586"	"MONDO:0014664"	"Joubert syndrome 23"	"OMIM:616490"	"Joubert syndrome 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19960"	"KIAA0586"	"OMIM:616490"	"Joubert syndrome 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-17 19:04:12"	""	""	"26026149, 26096313, 26166481, 58899156"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA05860Joubert"	"2023-11-30"
"GENCC_000106-HGNC_19960-OMIM_616546-HP_0000007-GENCC_100002"	"HGNC:19960"	"KIAA0586"	"MONDO:0014688"	"short-rib thoracic dysplasia 14 with polydactyly"	"OMIM:616546"	"Short-rib thoracic dysplasia 14 with polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19960"	"KIAA0586"	"OMIM:616546"	"short-rib thoracic dysplasia 14 with polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-22 19:55:15"	""	""	"26166481, 26386044"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA05860ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_29110-OMIM_617127-HP_0000007-GENCC_100002"	"HGNC:29110"	"KIAA0753"	"MONDO:0014932"	"orofaciodigital syndrome XV"	"OMIM:617127"	"?Orofaciodigital syndrome XV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29110"	"KIAA0753"	"OMIM:617127"	"orofaciodigital syndrome XV"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 11:54:11"	""	""	"26643951, 29138412, 6493198, 6493199"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA07530Joubert"	"2023-11-30"
"GENCC_000106-HGNC_28532-OMIM_618498-HP_0000007-GENCC_100002"	"HGNC:28532"	"KIAA0825"	"MONDO:0032785"	"polydactyly, postaxial, type a10"	"OMIM:618498"	"Polydactyly, postaxial, type A10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28532"	"KIAA0825"	"OMIM:618498"	"polydactyly, postaxial, type a10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 16:01:02"	""	""	"27381092, 30982135, 32147526, 37107627"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA08250KIAA0825rel"	"2023-11-30"
"GENCC_000106-HGNC_19918-OMIM_618317-HP_0000007-GENCC_100002"	"HGNC:19918"	"MYORG"	"MONDO:0032673"	"basal ganglia calcification, idiopathic, 7, autosomal recessive"	"OMIM:618317"	"Basal ganglia calcification, idiopathic, 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19918"	"MYORG"	"OMIM:618317"	"basal ganglia calcification, idiopathic, 7, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:10"	""	""	"29910000, 31009047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA11610BasalGanglia"	"2023-11-30"
"GENCC_000106-HGNC_22219-OMIM_618613-HP_0000007-GENCC_100002"	"HGNC:22219"	"KIAA1549"	"MONDO:0032834"	"retinitis pigmentosa 86"	"OMIM:618613"	"Retinitis pigmentosa 86"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22219"	"KIAA1549"	"OMIM:618613"	"retinitis pigmentosa 86"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-10-15 07:43:10"	""	""	"23105016, 24938718, 28512305, 30120214, 31785789, 32531858"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA15490RP"	"2023-11-30"
"GENCC_000106-HGNC_29508-OMIM_619501-HP_0000007-GENCC_100002"	"HGNC:29508"	"KIDINS220"	"MONDO:0859184"	"ventriculomegaly and arthrogryposis"	"OMIM:619501"	"Ventriculomegaly and arthrogryposis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29508"	"KIDINS220"	"OMIM:619501"	"Ventriculomegaly and arthrogryposis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-12 13:45:43"	""	""	"28934391, 31130284, 32909676"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIDINS2200CVLC"	"2023-11-30"
"GENCC_000106-HGNC_29508-OMIM_617296-HP_0000006-GENCC_100002"	"HGNC:29508"	"KIDINS220"	"MONDO:0015007"	"spastic paraplegia, intellectual disability, nystagmus, and obesity"	"OMIM:617296"	"Spastic paraplegia, intellectual disability, nystagmus, and obesity"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29508"	"KIDINS220"	"OMIM:617296"	"spastic paraplegia, intellectual disability, nystagmus, and obesity;"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-20 08:29:25"	""	""	"27005418, 29667355"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIDINS2200SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_24123-OMIM_617120-HP_0000007-GENCC_100002"	"HGNC:24123"	"B9D1"	"MONDO:0014927"	"Joubert syndrome 27"	"OMIM:617120"	"Joubert syndrome 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24123"	"B9D1"	"OMIM:617120"	"Joubert syndrome 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-08 12:02:16"	""	""	"21493627"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"B9D10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_19181-OMIM_616258-HP_0000007-GENCC_100002"	"HGNC:19181"	"KIF14"	"MONDO:0014552"	"lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"	"OMIM:616258"	"?Meckel syndrome 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19181"	"KIF14"	"OMIM:616258"	"lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:29:14"	""	""	"23308235, 24128419, 250554, 30388224"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF140Joubert"	"2023-11-30"
"GENCC_000106-HGNC_19181-OMIM_617914-HP_0000007-GENCC_100002"	"HGNC:19181"	"KIF14"	"MONDO:0054761"	"microcephaly 20, primary, autosomal recessive"	"OMIM:617914"	"Microcephaly 20, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19181"	"KIF14"	"OMIM:617914"	"Microcephaly 20, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-14 15:03:22"	""	""	"23308235, 250508, 28892560, 29343805"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF140Microcephaly"	"2023-11-30"
"GENCC_000106-HGNC_17273-OMIM_619981-HP_0000005-GENCC_100004"	"HGNC:17273"	"KIF15"	"MONDO:0859570"	"braddock-carey syndrome 2"	"OMIM:619981"	"?Braddock-Carey syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17273"	"KIF15"	"OMIM:619981"	"?Braddock-Carey syndrome 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-16 20:20:36"	""	""	"28150392, 31785789, 31838722, 32368696"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF150KIF15rel"	"2023-11-30"
"GENCC_000106-HGNC_888-OMIM_614213-HP_0000007-GENCC_100002"	"HGNC:888"	"KIF1A"	"MONDO:0013634"	"neuropathy, hereditary sensory, type 2C"	"OMIM:614213"	"Neuropathy, hereditary sensory, type IIC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:888"	"KIF1A"	"OMIM:614213"	"neuropathy, hereditary sensory, type 2C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-05 07:26:21"	""	""	"21820098"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF1A0HSAN"	"2023-11-30"
"GENCC_000106-HGNC_7121-OMIM_617121-HP_0000007-GENCC_100002"	"HGNC:7121"	"MKS1"	"MONDO:0014928"	"Joubert syndrome 28"	"OMIM:617121"	"Joubert syndrome 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7121"	"MKS1"	"OMIM:617121"	"Joubert syndrome 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"17397051, 24886560, 26490104, 28497568"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MKS10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_888-OMIM_610357-HP_0000007-GENCC_100002"	"HGNC:888"	"KIF1A"	"MONDO:0012476"	"hereditary spastic paraplegia 30"	"OMIM:610357"	"Spastic paraplegia 30, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:888"	"KIF1A"	"OMIM:610357"	"hereditary spastic paraplegia 30"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-03 20:40:41"	""	""	"21487076, 22258533, 25265257, 28332297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF1A0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_888-OMIM_610357-HP_0000006-GENCC_100002"	"HGNC:888"	"KIF1A"	"MONDO:0012476"	"hereditary spastic paraplegia 30"	"OMIM:610357"	"Spastic paraplegia 30, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:888"	"KIF1A"	"OMIM:610357"	"hereditary spastic paraplegia 30"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-03 20:40:41"	""	""	"25265257, 25585697, 26125038, 26410750, 28970574, 29159194, 31488895, 34487232, 35132656"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF1A0SpasticPara02"	"2023-11-30"
"GENCC_000106-HGNC_16636-OMIM_118210-HP_0000006-GENCC_100004"	"HGNC:16636"	"KIF1B"	"MONDO:0007308"	"Charcot-Marie-Tooth disease type 2A1"	"OMIM:118210"	"Charcot-Marie-Tooth disease, type 2A1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16636"	"KIF1B"	"OMIM:118210"	"Charcot-Marie-Tooth disease type 2A1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-19 08:01:48"	""	""	"11389829, 15064763, 25025039, 25802885, 29590070, 30373780, 31372974, 32298515, 32376792, 33726816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF1B0CMT"	"2023-11-30"
"GENCC_000106-HGNC_16636-OMIM_171300-HP_0000006-GENCC_100004"	"HGNC:16636"	"KIF1B"	"MONDO:0008233"	"pheochromocytoma"	"OMIM:171300"	"{Pheochromocytoma, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16636"	"KIF1B"	"OMIM:171300"	"pheochromocytoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-15 18:49:07"	""	""	"18334619, 18726616, 24694336, 27986441, 28515046, 32565791, 33362715, 33397043, 33777662, 35046208, 605995"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF1B0PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_23419-OMIM_609460-HP_0000007-GENCC_100002"	"HGNC:23419"	"KIFBP"	"MONDO:0012280"	"Goldberg-Shprintzen syndrome"	"OMIM:609460"	"Goldberg-Shprintzen megacolon syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23419"	"KIFBP"	"OMIM:609460"	"Goldberg-Shprintzen megacolon syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"15883926, 23427148"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF1BP0Goldberg"	"2023-11-30"
"GENCC_000106-HGNC_9787-OMIM_619433-HP_0000005-GENCC_100004"	"HGNC:9787"	"KIF20A"	"MONDO:0030330"	"cardiomyopathy, familial restrictive, 6"	"OMIM:619433"	"?Cardiomyopathy, familial restrictive, 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9787"	"KIF20A"	"OMIM:619433"	"?Cardiomyopathy, familial restrictive, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-04 09:29:15"	""	""	"29357359"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF20A0RCM"	"2023-11-30"
"GENCC_000106-HGNC_19349-OMIM_135700-HP_0000006-GENCC_100002"	"HGNC:19349"	"KIF21A"	"MONDO:0021083"	"congenital fibrosis of extraocular muscles type 1"	"OMIM:135700"	"Fibrosis of extraocular muscles, congenital, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19349"	"KIF21A"	"OMIM:135700"	"congenital fibrosis of extraocular muscles type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-22 15:45:46"	""	""	"14595441, 15621876, 20301522, 21805025, 24426772, 27513105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF21A0CFEOM"	"2023-11-30"
"GENCC_000106-HGNC_25557-OMIM_617157-HP_0000007-GENCC_100002"	"HGNC:25557"	"PRMT7"	"MONDO:0014944"	"short stature-brachydactyly-obesity-global developmental delay syndrome"	"OMIM:617157"	"Short stature, brachydactyly, intellectual developmental disability, and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25557"	"PRMT7"	"OMIM:617157"	"Short stature, brachydactyly, intellectual developmental disability, and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-21 23:48:38"	""	""	"26437029, 27207521, 27718516, 28902392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRMT70PRMT7rel"	"2023-11-30"
"GENCC_000106-HGNC_6318-OMIM_615411-HP_0000006-GENCC_100002"	"HGNC:6318"	"KIF2A"	"MONDO:0014170"	"complex cortical dysplasia with other brain malformations 3"	"OMIM:615411"	"Cortical dysplasia, complex, with other brain malformations 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6318"	"KIF2A"	"OMIM:615411"	"complex cortical dysplasia with other brain malformations 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 14:26:21"	""	""	"23603762, 27747449, 27896282, 31487502"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF2A0Lissencephaly"	"2023-11-30"
"GENCC_000106-HGNC_6320-OMIM_618955-HP_0000006-GENCC_100002"	"HGNC:6320"	"KIF3B"	"MONDO:0030071"	"retinitis pigmentosa 89"	"OMIM:618955"	"Retinitis pigmentosa 89"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6320"	"KIF3B"	"OMIM:618955"	"retinitis pigmentosa 89"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:24"	""	""	"32386558"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF3B0KIF3Brel"	"2023-11-30"
"GENCC_000106-HGNC_13339-OMIM_300923-HP_0000005-GENCC_100004"	"HGNC:13339"	"KIF4A"	"MONDO:0010488"	"intellectual disability, X-linked 100"	"OMIM:300923"	"Intellectual developmental disorder, X-linked 100"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13339"	"KIF4A"	"OMIM:300923"	"intellectual disability, X-linked 100"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-19 09:42:37"	""	""	"24812067, 29302074, 29433173, 30217625, 30298503, 30679815, 31085274, 69573464, 69722349, 73805828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF4A0IDandGE"	"2023-11-30"
"GENCC_000106-HGNC_24036-OMIM_617169-HP_0000005-GENCC_100004"	"HGNC:24036"	"APC2"	"MONDO:0014951"	"intellectual developmental disorder, autosomal recessive 74"	"OMIM:617169"	"Intellectual developmental disorder, autosomal recessive 74"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24036"	"APC2"	"OMIM:617169"	"Intellectual developmental disorder, autosomal recessive 74"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"25753423"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APC20Sotos"	"2023-11-30"
"GENCC_000106-HGNC_6323-OMIM_604187-HP_0000006-GENCC_100002"	"HGNC:6323"	"KIF5A"	"MONDO:0011408"	"hereditary spastic paraplegia 10"	"OMIM:604187"	"Spastic paraplegia 10, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6323"	"KIF5A"	"OMIM:604187"	"hereditary spastic paraplegia 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 20:00:01"	""	""	"10441583, 18203753, 21087519, 23209432, 25352184, 26374131, 27084214, 34758253, 836070"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF5A0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_6323-OMIM_617235-HP_0000006-GENCC_100002"	"HGNC:6323"	"KIF5A"	"MONDO:0014979"	"myoclonus, intractable, neonatal"	"OMIM:617235"	"Myoclonus, intractable, neonatal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6323"	"KIF5A"	"OMIM:617235"	"myoclonus, intractable, neonatal"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-25 13:46:49"	""	""	"23217743, 27414745, 27463701"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF5A0myoclonus0neo"	"2023-11-30"
"GENCC_000106-HGNC_6325-OMIM_615282-HP_0000006-GENCC_100002"	"HGNC:6325"	"KIF5C"	"MONDO:0014116"	"complex cortical dysplasia with other brain malformations 2"	"OMIM:615282"	"Cortical dysplasia, complex, with other brain malformations 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6325"	"KIF5C"	"OMIM:615282"	"complex cortical dysplasia with other brain malformations 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-30 10:27:55"	""	""	"23033978, 23603762, 24812067, 25140595, 26384676, 27391121, 28135719, 28867141, 29048727"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF5C0CortMalf"	"2023-11-30"
"GENCC_000106-HGNC_30497-OMIM_200990-HP_0000007-GENCC_100002"	"HGNC:30497"	"KIF7"	"MONDO:0008708"	"acrocallosal syndrome"	"OMIM:200990"	"Acrocallosal syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30497"	"KIF7"	"OMIM:200990"	"acrocallosal syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"19666503, 21552264, 26648833"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF70Acrocallosal"	"2023-11-30"
"GENCC_000106-HGNC_30497-OMIM_614120-HP_0000007-GENCC_100002"	"HGNC:30497"	"KIF7"	"MONDO:0013585"	"hydrolethalus syndrome 2"	"OMIM:614120"	"?Hydrolethalus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30497"	"KIF7"	"OMIM:614120"	"hydrolethalus syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"19666503, 21552264"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF70Hydroethalus"	"2023-11-30"
"GENCC_000106-HGNC_15734-OMIM_619201-HP_0000005-GENCC_100004"	"HGNC:15734"	"KIRREL1"	"MONDO:0030962"	"nephrotic syndrome, type 23"	"OMIM:619201"	"Nephrotic syndrome, type 23"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15734"	"KIRREL1"	"OMIM:619201"	"Nephrotic syndrome, type 23"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:16"	""	""	"16968734, 31472902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIRREL0NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_23204-OMIM_612581-HP_0000005-GENCC_100004"	"HGNC:23204"	"KIRREL3"	"MONDO:0012947"	"intellectual disability, autosomal dominant 4"	"OMIM:612581"	"Intellectual developmental disorder, autosomal dominant 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23204"	"KIRREL3"	"OMIM:612581"	"intellectual disability, autosomal dominant 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"147791, 19012874, 22495311, 22965935, 26411299, 27353043, 28670619, 29271092, 29362445, 30504930, 30888095, 31130284, 32503885, 32841469, 33853164"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIRREL30ID"	"2023-11-30"
"GENCC_000106-HGNC_6341-OMIM_614842-HP_0000007-GENCC_100004"	"HGNC:6341"	"KISS1"	"MONDO:0013915"	"hypogonadotropic hypogonadism 13 with or without anosmia"	"OMIM:614842"	"?Hypogonadotropic hypogonadism 13 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6341"	"KISS1"	"OMIM:614842"	"hypogonadotropic hypogonadism 13 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"17595229, 22335740"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KISS10IHH"	"2023-11-30"
"GENCC_000106-HGNC_4510-OMIM_614837-HP_0000007-GENCC_100002"	"HGNC:4510"	"KISS1R"	"MONDO:0013910"	"hypogonadotropic hypogonadism 8 with or without anosmia"	"OMIM:614837"	"Hypogonadotropic hypogonadism 8 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4510"	"KISS1R"	"OMIM:614837"	"hypogonadotropic hypogonadism 8 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"14652023, 17595229, 20371656, 22619348, 27094476"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KISS1R0Hypogona05"	"2023-11-30"
"GENCC_000106-HGNC_6342-OMIM_606764-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6342"	"KIT"	"OMIM:606764"	"gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 18:23:31"	""	""	"17193819, 17943734, 23036227, 27777718, 29170162, 9438854"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIT0GIST"	"2023-11-30"
"GENCC_000106-HGNC_6342-OMIM_154800-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0019023"	"cutaneous mastocytosis"	"OMIM:154800"	"Mastocytosis, systemic, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6342"	"KIT"	"OMIM:154800"	"mastocytosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-19 22:08:31"	""	""	"21689725, 24582309, 29146883"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIT0MAST"	"2023-11-30"
"GENCC_000106-HGNC_6342-OMIM_172800-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0008244"	"piebaldism"	"OMIM:172800"	"Piebaldism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6342"	"KIT"	"OMIM:172800"	"piebaldism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-27 19:45:35"	""	""	"15194144, 22670867, 30561083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIT0Piebaldism"	"2023-11-30"
"GENCC_000106-HGNC_6343-OMIM_616697-HP_0000006-GENCC_100002"	"HGNC:6343"	"KITLG"	"MONDO:0014738"	"autosomal dominant nonsyndromic hearing loss 69"	"OMIM:616697"	"Deafness, autosomal dominant 69, unilateral or asymmetric"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6343"	"KITLG"	"OMIM:616697"	"autosomal dominant nonsyndromic hearing loss 69"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 08:06:59"	""	""	"1280558, 26522471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KITLG0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_4401-OMIM_617173-HP_0000007-GENCC_100002"	"HGNC:4401"	"GNB5"	"MONDO:0014953"	"gnb5-related intellectual disability-cardiac arrhythmia syndrome"	"OMIM:617173"	"Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4401"	"GNB5"	"OMIM:617173"	"Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-23 19:16:42"	""	""	"21766168, 27523599"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNB50GNB5rel"	"2023-11-30"
"GENCC_000106-HGNC_19218-OMIM_617214-HP_0000007-GENCC_100002"	"HGNC:19218"	"PLCZ1"	"MONDO:0014970"	"spermatogenic failure 17"	"OMIM:617214"	"Spermatogenic failure 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19218"	"PLCZ1"	"OMIM:617214"	"Spermatogenic failure 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 15:35:25"	""	""	"19584136, 22010140, 22095789, 22633260, 250876, 251348, 26721930, 281390, 282083, 29358633, 30010725, 31347677, 31463947, 31953539, 32048714, 32146562"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCZ10MaleInfertility"	"2023-11-30"
"GENCC_000106-HGNC_6344-OMIM_617994-HP_0000005-GENCC_100004"	"HGNC:6344"	"KL"	"MONDO:0060715"	"tumoral calcinosis, hyperphosphatemic, familial, 3"	"OMIM:617994"	"?Tumoral calcinosis, hyperphosphatemic, familial, 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6344"	"KL"	"OMIM:617994"	"tumoral calcinosis, hyperphosphatemic, familial, 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-16 13:04:47"	""	""	"17710231"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KL0TumoralC02"	"2023-11-30"
"GENCC_000106-HGNC_20716-OMIM_609541-HP_0000007-GENCC_100004"	"HGNC:20716"	"KLC2"	"MONDO:0012297"	"spastic paraplegia, optic atropy, and neuropathy"	"OMIM:609541"	"Spastic paraplegia, optic atrophy, and neuropathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20716"	"KLC2"	"OMIM:609541"	"SPOAN syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"15852396, 26385635"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLC20SPOAN"	"2023-11-30"
"GENCC_000106-HGNC_6345-OMIM_613673-HP_0000006-GENCC_100002"	"HGNC:6345"	"KLF1"	"MONDO:0013355"	"congenital dyserythropoietic anemia type 4"	"OMIM:613673"	"Anemia, dyserythropoietic congenital, type IVa"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6345"	"KLF1"	"OMIM:613673"	"congenital dyserythropoietic anemia type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 08:57:07"	""	""	"21055716, 21778342, 23522491, 28102861, 29200155, 29300242, 29396846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLF10Dyseryth-4"	"2023-11-30"
"GENCC_000106-HGNC_11811-OMIM_610508-HP_0000006-GENCC_100002"	"HGNC:11811"	"KLF11"	"MONDO:0012513"	"maturity-onset diabetes of the young type 7"	"OMIM:610508"	"Maturity-onset diabetes of the young, type VII"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11811"	"KLF11"	"OMIM:610508"	"Maturity-onset diabetes of the young, type VII"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 10:04:32"	""	""	"15774581, 23589285, 28456933, 28993341, 29439679, 29726111, 29758564, 30191644, 31124255"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLF110Maturity03"	"2023-11-30"
"GENCC_000106-HGNC_28557-OMIM_236000-HP_0000005-GENCC_100004"	"HGNC:28557"	"KLHDC8B"	"MONDO:0009348"	"classic Hodgkin lymphoma"	"OMIM:236000"	"{Hodgkin lymphoma, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28557"	"KLHDC8B"	"OMIM:236000"	"{Hodgkin lymphoma, susceptibility to}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-06 14:27:39"	""	""	"19706467"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHDC8B0{Hodgkin"	"2023-11-30"
"GENCC_000106-HGNC_26899-OMIM_617255-HP_0000007-GENCC_100002"	"HGNC:26899"	"TMTC3"	"MONDO:0014992"	"lissencephaly 8"	"OMIM:617255"	"Lissencephaly 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26899"	"TMTC3"	"OMIM:617255"	"Lissencephaly 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"21956870, 27773428, 28973161"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMTC30Lissencephaly"	"2023-11-30"
"GENCC_000106-HGNC_25947-OMIM_617294-HP_0000006-GENCC_100002"	"HGNC:25947"	"KLHL24"	"MONDO:0015006"	"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"	"OMIM:617294"	"Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25947"	"KLHL24"	"OMIM:617294"	"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 02:45:34"	""	""	"27798626, 27889062, 29574966"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHL240EpidermBull"	"2023-11-30"
"GENCC_000106-HGNC_25947-OMIM_620236-HP_0000007-GENCC_100002"	"HGNC:25947"	"KLHL24"	"MONDO:0859372"	"cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies"	"OMIM:620236"	"Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25947"	"KLHL24"	"OMIM:620236"	"Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 18:16:08"	""	""	"30715372, 32870709, 36672924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHL240HCM"	"2023-11-30"
"GENCC_000106-HGNC_6354-OMIM_614495-HP_0000007-GENCC_100002"	"HGNC:6354"	"KLHL3"	"MONDO:0013781"	"pseudohypoaldosteronism type 2D"	"OMIM:614495"	"Pseudohypoaldosteronism, type IID"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6354"	"KLHL3"	"OMIM:614495"	"pseudohypoaldosteronism type 2D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:22:45"	""	""	"22266938, 251318, 251340, 28052936"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHL30Gordon's"	"2023-11-30"
"GENCC_000106-HGNC_6354-OMIM_614495-HP_0000006-GENCC_100002"	"HGNC:6354"	"KLHL3"	"MONDO:0013781"	"pseudohypoaldosteronism type 2D"	"OMIM:614495"	"Pseudohypoaldosteronism, type IID"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6354"	"KLHL3"	"OMIM:614495"	"pseudohypoaldosteronism type 2D"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:22:45"	""	""	"22266938, 22406640, 23387299, 25925082, 28052936"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHL30Gordon's02"	"2023-11-30"
"GENCC_000106-HGNC_15646-OMIM_612943-HP_0000006-GENCC_100002"	"HGNC:15646"	"KLHL7"	"MONDO:0013052"	"retinitis pigmentosa 42"	"OMIM:612943"	"Retinitis pigmentosa 42"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15646"	"KLHL7"	"OMIM:612943"	"retinitis pigmentosa 42"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:24"	""	""	"19520207, 20547956, 21828050, 28559085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLHL70RP"	"2023-11-30"
"GENCC_000106-HGNC_6371-OMIM_612423-HP_0000007-GENCC_100002"	"HGNC:6371"	"KLKB1"	"MONDO:0012901"	"inherited prekallikrein deficiency"	"OMIM:612423"	"Fletcher factor (prekallikrein) deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6371"	"KLKB1"	"OMIM:612423"	"Fletcher factor (prekallikrein) deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-21 17:59:41"	""	""	"15461630, 19404525, 21415712"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KLKB10Fletcher"	"2023-11-30"
"GENCC_000106-HGNC_7132-OMIM_605130-HP_0000006-GENCC_100002"	"HGNC:7132"	"KMT2A"	"MONDO:0011518"	"Wiedemann-Steiner syndrome"	"OMIM:605130"	"Wiedemann-Steiner syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7132"	"KMT2A"	"OMIM:605130"	"Wiedemann-Steiner syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-21 21:51:35"	""	""	"22795537, 25810209, 29574747, 7477409"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KMT2A0WDSTSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_15840-OMIM_617284-HP_0000006-GENCC_100002"	"HGNC:15840"	"KMT2B"	"MONDO:0015004"	"dystonia 28, childhood-onset"	"OMIM:617284"	"Dystonia 28, childhood-onset"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15840"	"KMT2B"	"OMIM:617284"	"dystonia 28, childhood-onset"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-12 20:49:00"	""	""	"27839873, 27992417, 31216378, 31338059, 31768667, 33150406, 33502045, 36483457, 493766"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KMT2B0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_29536-OMIM_617271-HP_0000007-GENCC_100002"	"HGNC:29536"	"MAPKBP1"	"MONDO:0014997"	"nephronophthisis 20"	"OMIM:617271"	"Nephronophthisis 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29536"	"MAPKBP1"	"OMIM:617271"	"Nephronophthisis 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"28089251"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPKBP10Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_13726-OMIM_617768-HP_0000006-GENCC_100002"	"HGNC:13726"	"KMT2C"	"MONDO:0054701"	"Kleefstra syndrome 2"	"OMIM:617768"	"Kleefstra syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13726"	"KMT2C"	"OMIM:617768"	"Kleefstra syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:15"	""	""	"22726846, 23375656, 25363768, 28191890, 28263302, 29069077, 30564305, 32366967, 33482836, 33619735, 34958143, 35108799, 35685914, 36360262"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KMT2C0Kleefstra"	"2023-11-30"
"GENCC_000106-HGNC_567-OMIM_617276-HP_0000007-GENCC_100002"	"HGNC:567"	"AP3B2"	"MONDO:0015000"	"developmental and epileptic encephalopathy, 48"	"OMIM:617276"	"Developmental and epileptic encephalopathy 48"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:567"	"AP3B2"	"OMIM:617276"	"Developmental and epileptic encephalopathy 48"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 22:11:38"	""	""	"27431290, 27889060, 29453418, 31231135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP3B20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_7133-OMIM_147920-HP_0000006-GENCC_100002"	"HGNC:7133"	"KMT2D"	"MONDO:0007843"	"Kabuki syndrome 1"	"OMIM:147920"	"Kabuki syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7133"	"KMT2D"	"OMIM:147920"	"Kabuki syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-14 07:40:34"	""	""	"21607748, 21671394, 22126750, 24633898, 27302555"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KMT2D0Kabuki"	"2023-11-30"
"GENCC_000106-HGNC_18541-OMIM_618512-HP_0000006-GENCC_100002"	"HGNC:18541"	"KMT2E"	"MONDO:0032793"	"O'Donnell-Luria-Rodan syndrome"	"OMIM:618512"	"O'Donnell-Luria-Rodan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18541"	"KMT2E"	"OMIM:618512"	"O'Donnell-Luria-Rodan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:41:00"	""	""	"31079897, 33111303, 34321323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KMT2E0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_6383-OMIM_619363-HP_0000005-GENCC_100004"	"HGNC:6383"	"KNG1"	"MONDO:0023660"	"angioedema, hereditary, 6"	"OMIM:619363"	"Angioedema, hereditary, 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6383"	"KNG1"	"OMIM:619363"	"Angioedema, hereditary, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-07-05 12:35:03"	""	""	"31087670, 33114181"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KNG10KNG1rel"	"2023-11-30"
"GENCC_000106-HGNC_21839-OMIM_620319-HP_0000007-GENCC_100002"	"HGNC:21839"	"KPNA7"	"MONDO:0957220"	"oocyte/zygote/embryo maturation arrest 17"	"OMIM:620319"	"Oocyte/zygote/embryo maturation arrest 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21839"	"KPNA7"	"OMIM:620319"	"Oocyte/zygote/embryo maturation arrest 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-17 19:11:18"	""	""	"36647821"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KPNA70FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_10586-OMIM_617350-HP_0000007-GENCC_100002"	"HGNC:10586"	"SCN1B"	"MONDO:0033361"	"developmental and epileptic encephalopathy, 52"	"OMIM:617350"	"Developmental and epileptic encephalopathy 52"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10586"	"SCN1B"	"OMIM:617350"	"Developmental and epileptic encephalopathy 52"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-29 08:13:05"	""	""	"19710327, 23148524, 28218289, 28218389, 28681755, 31465153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN1B0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_6407-OMIM_615278-HP_0000006-GENCC_100002"	"HGNC:6407"	"KRAS"	"MONDO:0014112"	"cardiofaciocutaneous syndrome 2"	"OMIM:615278"	"Cardiofaciocutaneous syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6407"	"KRAS"	"OMIM:615278"	"cardiofaciocutaneous syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 17:04:29"	""	""	"16474404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRAS0CardioFacio"	"2023-11-30"
"GENCC_000106-HGNC_6407-OMIM_609942-HP_0000006-GENCC_100002"	"HGNC:6407"	"KRAS"	"MONDO:0012371"	"Noonan syndrome 3"	"OMIM:609942"	"Noonan syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6407"	"KRAS"	"OMIM:609942"	"Noonan syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-28 19:42:45"	""	""	"19396835"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRAS0Noonan"	"2023-11-30"
"GENCC_000106-HGNC_6407-OMIM_163200-HP_0000006-GENCC_100002"	"HGNC:6407"	"KRAS"	"MONDO:0008097"	"linear nevus sebaceous syndrome"	"OMIM:163200"	"Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6407"	"KRAS"	"OMIM:163200"	"Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 13:33:49"	""	""	"25808193, 30891959"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRAS0OES"	"2023-11-30"
"GENCC_000106-HGNC_1573-OMIM_116860-HP_0000006-GENCC_100002"	"HGNC:1573"	"KRIT1"	"MONDO:0020724"	"cerebral cavernous malformation 1"	"OMIM:116860"	"Cavernous malformations of CNS and retina"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1573"	"KRIT1"	"OMIM:116860"	"cerebral cavernous malformation 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-17 15:27:56"	""	""	"10508515, 11222804, 12404106, 14993192, 21029238, 24689081"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRIT10CerebCavern"	"2023-11-30"
"GENCC_000106-HGNC_6412-OMIM_607602-HP_0000006-GENCC_100002"	"HGNC:6412"	"KRT1"	"MONDO:0100303"	"ichthyosis, annular epidermolytic 1"	"OMIM:607602"	"Ichthyosis, annular epidermolytic 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6412"	"KRT1"	"OMIM:607602"	"annular epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 18:47:39"	""	""	"10053007, 10844506, 11286616, 11286630, 11558869, 12406346, 12603866, 14708600, 15214894, 20500210, 21271994, 22250628, 23132931, 25774499, 7507151, 7512983"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT10KRT1rel"	"2023-11-30"
"GENCC_000106-HGNC_6413-OMIM_607602-HP_0000006-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0100303"	"ichthyosis, annular epidermolytic 1"	"OMIM:607602"	"Ichthyosis, annular epidermolytic 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6413"	"KRT10"	"OMIM:607602"	"annular epidermolytic ichthyosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-21 09:26:48"	""	""	"1381287, 21271994, 25214791, 26338057, 7512983"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT100KRT10rel"	"2023-11-30"
"GENCC_000106-HGNC_6413-OMIM_113800-HP_0000007-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0007239"	"epidermolytic ichthyosis"	"OMIM:113800"	"Epidermolytic hyperkeratosis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6413"	"KRT10"	"OMIM:113800"	"epidermolytic ichthyosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:08"	""	""	"16505000, 18219278, 20302579, 20643494, 23957016, 29277919, 31953843"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT100KRT10rel02"	"2023-11-30"
"GENCC_000106-HGNC_6414-OMIM_122100-HP_0000006-GENCC_100002"	"HGNC:6414"	"KRT12"	"MONDO:0020791"	"corneal dystrophy, Meesmann, 1"	"OMIM:122100"	"Meesmann corneal dystrophy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6414"	"KRT12"	"OMIM:122100"	"corneal dystrophy, Meesmann, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"19337156, 22174841, 26758872, 9171831, 9399908, 9467444"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT120CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_6415-OMIM_615785-HP_0000006-GENCC_100002"	"HGNC:6415"	"KRT13"	"MONDO:0014346"	"white sponge nevus 2"	"OMIM:615785"	"White sponge nevus 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6415"	"KRT13"	"OMIM:615785"	"white sponge nevus 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"10561721, 25606422, 26062705, 7493031"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT130WhiteSpo02"	"2023-11-30"
"GENCC_000106-HGNC_6416-OMIM_131900-HP_0000006-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0007554"	"epidermolysis bullosa simplex 1B, generalized intermediate"	"OMIM:131900"	"Epidermolysis bullosa simplex 1B, generalized intermediate"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6416"	"KRT14"	"OMIM:131900"	"epidermolysis bullosa simplex 1B, generalized intermediate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 09:43:46"	""	""	"11990248, 12707098, 16786515, 16792776, 16960809, 1703046, 20199538, 20301543, 21375516, 21734713, 26743602, 27283507, 28925504, 29130490, 7539810"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT140EBS"	"2023-11-30"
"GENCC_000106-HGNC_6416-OMIM_601001-HP_0000007-GENCC_100002"	"HGNC:6416"	"KRT14"	"MONDO:0010976"	"epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	"OMIM:601001"	"Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6416"	"KRT14"	"OMIM:601001"	"epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-20 10:30:33"	""	""	"16614722, 192030, 20199538, 21734713, 219392, 27273507, 27283507, 28925504, 29024068, 29130490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT140EBS02"	"2023-11-30"
"GENCC_000106-HGNC_6423-OMIM_167200-HP_0000006-GENCC_100002"	"HGNC:6423"	"KRT16"	"MONDO:0008173"	"pachyonychia congenita 1"	"OMIM:167200"	"Pachyonychia congenita 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6423"	"KRT16"	"OMIM:167200"	"pachyonychia congenita 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"10839714, 10954990, 16250206, 21326300, 21668426, 24611874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT160PC"	"2023-11-30"
"GENCC_000106-HGNC_6430-OMIM_215600-HP_0000007-GENCC_100004"	"HGNC:6430"	"KRT18"	"MONDO:0007329"	"cirrhosis, familial"	"OMIM:215600"	"{Cirrhosis, noncryptogenic, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6430"	"KRT18"	"OMIM:215600"	"cirrhosis, familial"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:08"	""	""	"8522591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT180Cirrhosi02"	"2023-11-30"
"GENCC_000106-HGNC_6440-OMIM_122100-HP_0000006-GENCC_100002"	"HGNC:6440"	"KRT3"	"MONDO:0020791"	"corneal dystrophy, Meesmann, 1"	"OMIM:122100"	"Meesmann corneal dystrophy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6440"	"KRT3"	"OMIM:122100"	"corneal dystrophy, Meesmann, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-11 14:22:42"	""	""	"16227835, 18806880, 19337156, 21176769, 26788030, 9171831"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT30CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_6442-OMIM_179850-HP_0000006-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0024534"	"Dowling-Degos disease 1"	"OMIM:179850"	"Dowling-Degos disease 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6442"	"KRT5"	"OMIM:179850"	"Dowling-Degos disease 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:44:51"	""	""	"16465624, 16917491, 21569119, 25284854"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT50Dowling-"	"2023-11-30"
"GENCC_000106-HGNC_18712-OMIM_617468-HP_0000007-GENCC_100002"	"HGNC:18712"	"LGI4"	"MONDO:0060486"	"arthrogryposis multiplex congenita 1, neurogenic, with myelin defect"	"OMIM:617468"	"Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18712"	"LGI4"	"OMIM:617468"	"Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-24 08:40:12"	""	""	"18974846, 21068328, 28318499, 29858556"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LGI40Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_7983-OMIM_617480-HP_0000006-GENCC_100002"	"HGNC:7983"	"NR5A1"	"MONDO:0060489"	"46,XX sex reversal 4"	"OMIM:617480"	"46XX sex reversal 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7983"	"NR5A1"	"OMIM:617480"	"46XX sex reversal 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-18 13:56:58"	""	""	"27490115, 27610946, 30350900, 30425642"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR5A1046XX"	"2023-11-30"
"GENCC_000106-HGNC_28927-OMIM_615896-HP_0000005-GENCC_100004"	"HGNC:28927"	"KRT71"	"MONDO:0014390"	"hypotrichosis 13"	"OMIM:615896"	"?Hypotrichosis 13"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28927"	"KRT71"	"OMIM:615896"	"hypotrichosis 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-01 08:16:57"	""	""	"20346438, 22592156, 30444027, 30456859"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT710Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_4389-OMIM_617493-HP_0000006-GENCC_100002"	"HGNC:4389"	"GNAO1"	"MONDO:0060491"	"neurodevelopmental disorder with involuntary movements"	"OMIM:617493"	"Neurodevelopmental disorder with involuntary movements"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4389"	"GNAO1"	"OMIM:617493"	"Neurodevelopmental disorder with involuntary movements"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 20:30:42"	""	""	"27864847, 28357411, 28688840, 28747448"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GNAO10NEDIM"	"2023-11-30"
"GENCC_000106-HGNC_6446-OMIM_215600-HP_0000007-GENCC_100004"	"HGNC:6446"	"KRT8"	"MONDO:0007329"	"cirrhosis, familial"	"OMIM:215600"	"{Cirrhosis, noncryptogenic, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6446"	"KRT8"	"OMIM:215600"	"cirrhosis, familial"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:08"	""	""	"11372009, 22419260, 30134826"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT80Cirrhosi"	"2023-11-30"
"GENCC_000106-HGNC_6462-OMIM_602032-HP_0000007-GENCC_100002"	"HGNC:6462"	"KRT85"	"MONDO:0011177"	"ectodermal dysplasia 4, hair/nail type"	"OMIM:602032"	"Ectodermal dysplasia 4, hair/nail type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6462"	"KRT85"	"OMIM:602032"	"ectodermal dysplasia 4, hair/nail type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"16525032, 19865094, 31273852, 52754711"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT850Ectoderm"	"2023-11-30"
"GENCC_000106-HGNC_26576-OMIM_617114-HP_0000007-GENCC_100002"	"HGNC:26576"	"KY"	"MONDO:0014922"	"myofibrillar myopathy 7"	"OMIM:617114"	"Myopathy, myofibrillar, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26576"	"KY"	"OMIM:617114"	"myofibrillar myopathy 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 09:28:56"	""	""	"11136708, 27484770, 27485408, 32818658"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KY0Neuromuscular"	"2023-11-30"
"GENCC_000106-HGNC_6469-OMIM_617661-HP_0000007-GENCC_100002"	"HGNC:6469"	"KYNU"	"MONDO:0060555"	"vertebral, cardiac, renal, and limb defects syndrome 2"	"OMIM:617661"	"Vertebral, cardiac, renal, and limb defects syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6469"	"KYNU"	"OMIM:617661"	"vertebral, cardiac, renal, and limb defects syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 12:41:43"	""	""	"31923704, 34200361, 28792876"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KYNU0Catel-Ma"	"2023-11-30"
"GENCC_000106-HGNC_6469-OMIM_236800-HP_0000007-GENCC_100002"	"HGNC:6469"	"KYNU"	"MONDO:0009372"	"encephalopathy due to hydroxykynureninuria"	"OMIM:236800"	"?Hydroxykynureninuria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6469"	"KYNU"	"OMIM:236800"	"encephalopathy due to hydroxykynureninuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"17334708, 28792876"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KYNU0Hydroxy"	"2023-11-30"
"GENCC_000106-HGNC_6470-OMIM_304100-HP_0001417-GENCC_100002"	"HGNC:6470"	"L1CAM"	"MONDO:0010569"	"X-linked complicated corpus callosum dysgenesis"	"OMIM:304100"	"?Corpus callosum, partial agenesis of"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:6470"	"L1CAM"	"OMIM:304100"	"X-linked complicated corpus callosum dysgenesis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:39:56"	""	""	"10767310, 1870106, 19617634, 1979056, 19846429, 9846429"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"L1CAM0L1"	"2023-11-30"
"GENCC_000106-HGNC_6482-OMIM_607855-HP_0000007-GENCC_100002"	"HGNC:6482"	"LAMA2"	"MONDO:0011925"	"congenital merosin-deficient muscular dystrophy 1A"	"OMIM:607855"	"Muscular dystrophy, congenital, merosin deficient or partially deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6482"	"LAMA2"	"OMIM:607855"	"congenital merosin-deficient muscular dystrophy 1A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 22:26:55"	""	""	"11938437, 18700894, 20207543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMA20CMD"	"2023-11-30"
"GENCC_000106-HGNC_6482-OMIM_618138-HP_0000007-GENCC_100002"	"HGNC:6482"	"LAMA2"	"MONDO:0029136"	"muscular dystrophy, limb-girdle, autosomal recessive 23"	"OMIM:618138"	"Muscular dystrophy, limb-girdle, autosomal recessive 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6482"	"LAMA2"	"OMIM:618138"	"Muscular dystrophy, limb-girdle, autosomal recessive 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 14:56:05"	""	""	"22675738, 32904964"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMA20LGMD"	"2023-11-30"
"GENCC_000106-HGNC_6483-OMIM_226700-HP_0000007-GENCC_100002"	"HGNC:6483"	"LAMA3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6483"	"LAMA3"	"OMIM:226700"	"junctional epidermolysis bullosa Herlitz type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:07"	""	""	"10366601, 11810295, 16473856, 16850021, 19693542, 23076207, 24690439"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMA30JEB"	"2023-11-30"
"GENCC_000106-HGNC_6483-OMIM_245660-HP_0000007-GENCC_100002"	"HGNC:6483"	"LAMA3"	"MONDO:0009513"	"laryngo-onycho-cutaneous syndrome"	"OMIM:245660"	"Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6483"	"LAMA3"	"OMIM:245660"	"laryngo-onycho-cutaneous syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"12915477, 16473856, 17362460, 23869449, 28087116"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMA30LOC"	"2023-11-30"
"GENCC_000106-HGNC_6484-OMIM_615235-HP_0000006-GENCC_100002"	"HGNC:6484"	"LAMA4"	"MONDO:0014095"	"dilated cardiomyopathy 1JJ"	"OMIM:615235"	"Cardiomyopathy, dilated, 1JJ"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6484"	"LAMA4"	"OMIM:615235"	"dilated cardiomyopathy 1JJ"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-31 11:16:47"	""	""	"17646580, 26406308, 26656175, 28416588, 28798025, 29415625, 30165862, 30650640, 31534214, 31983221, 32880476, 34036930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMA40DCM"	"2023-11-30"
"GENCC_000106-HGNC_6485-OMIM_620049-HP_0000007-GENCC_100002"	"HGNC:6485"	"LAMA5"	"MONDO:0031061"	"nephrotic syndrome, IIa 26"	"OMIM:620049"	"Nephrotic syndrome, type 26"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6485"	"LAMA5"	"OMIM:620049"	"nephrotic syndrome, IIa 26"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-07 08:02:36"	""	""	"3515625, 201750, 280460, 29534211"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMA50NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_6486-OMIM_615191-HP_0000007-GENCC_100002"	"HGNC:6486"	"LAMB1"	"MONDO:0014077"	"cobblestone lissencephaly without muscular or ocular involvement"	"OMIM:615191"	"Lissencephaly 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6486"	"LAMB1"	"OMIM:615191"	"cobblestone lissencephaly without muscular or ocular involvement"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-19 18:29:55"	""	""	"23472759, 25925986"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMB10Lissencephaly"	"2023-11-30"
"GENCC_000106-HGNC_6487-OMIM_614199-HP_0000007-GENCC_100002"	"HGNC:6487"	"LAMB2"	"MONDO:0013621"	"LAMB2-related infantile-onset nephrotic syndrome"	"OMIM:614199"	"Nephrotic syndrome, type 5, with or without ocular abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6487"	"LAMB2"	"OMIM:614199"	"LAMB2-related infantile-onset nephrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:57"	""	""	"15367484, 17371932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMB20NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_6490-OMIM_104530-HP_0000006-GENCC_100002"	"HGNC:6490"	"LAMB3"	"MONDO:0007094"	"amelogenesis imperfecta type 1A"	"OMIM:104530"	"Amelogenesis imperfecta, type IA"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6490"	"LAMB3"	"OMIM:104530"	"amelogenesis imperfecta type 1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"23632796, 23958762, 24494736, 25769099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMB30AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_6490-OMIM_226700-HP_0000007-GENCC_100002"	"HGNC:6490"	"LAMB3"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6490"	"LAMB3"	"OMIM:226700"	"junctional epidermolysis bullosa Herlitz type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:07"	""	""	"11023379, 15538630, 16473856, 9205497, 9242513"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMB30JEB"	"2023-11-30"
"GENCC_000106-HGNC_6493-OMIM_226700-HP_0000007-GENCC_100002"	"HGNC:6493"	"LAMC2"	"MONDO:0009182"	"junctional epidermolysis bullosa Herlitz type"	"OMIM:226700"	"Epidermolysis bullosa, junctional 1B, severe"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6493"	"LAMC2"	"OMIM:226700"	"junctional epidermolysis bullosa Herlitz type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"11907499, 15373767, 16473856, 18374450, 23076207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMC20JEB"	"2023-11-30"
"GENCC_000106-HGNC_6494-OMIM_614115-HP_0000007-GENCC_100002"	"HGNC:6494"	"LAMC3"	"MONDO:0013583"	"occipital pachygyria and polymicrogyria"	"OMIM:614115"	"Cortical malformations, occipital"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6494"	"LAMC3"	"OMIM:614115"	"occipital pachygyria and polymicrogyria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 21:26:45"	""	""	"133928273, 17711601, 19907020, 21572413, 22222602, 26802095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMC30CortMalf"	"2023-11-30"
"GENCC_000106-HGNC_6501-OMIM_300257-HP_0001417-GENCC_100002"	"HGNC:6501"	"LAMP2"	"MONDO:0010281"	"Danon disease"	"OMIM:300257"	"Danon disease"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:6501"	"LAMP2"	"OMIM:300257"	"Danon disease"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-15 17:39:09"	""	""	"21415759"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMP20Danon"	"2023-11-30"
"GENCC_000106-HGNC_29796-OMIM_610798-HP_0000005-GENCC_100004"	"HGNC:29796"	"LAMTOR2"	"MONDO:0012559"	"primary immunodeficiency syndrome due to p14 deficiency"	"OMIM:610798"	"Immunodeficiency due to defect in MAPBP-interacting protein"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29796"	"LAMTOR2"	"OMIM:610798"	"primary immunodeficiency syndrome due to p14 deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:51"	""	""	"17195838, 22968171"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAMTOR20Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_6512-OMIM_615438-HP_0000007-GENCC_100002"	"HGNC:6512"	"LARS1"	"MONDO:0024568"	"infantile liver failure syndrome 1"	"OMIM:615438"	"?Infantile liver failure syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6512"	"LARS1"	"OMIM:615438"	"?Infantile liver failure syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"22607940, 25917789, 32699352, 33300650"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LARS0LiverFail"	"2023-11-30"
"GENCC_000106-HGNC_17095-OMIM_617021-HP_0000007-GENCC_100002"	"HGNC:17095"	"LARS2"	"MONDO:0014869"	"hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"	"OMIM:617021"	"Hydrops, lactic acidosis, and sideroblastic anemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17095"	"LARS2"	"OMIM:617021"	"hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-29 08:13:32"	""	""	"26537577, 32442335"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LARS20HLASA"	"2023-11-30"
"GENCC_000106-HGNC_17095-OMIM_615300-HP_0000007-GENCC_100002"	"HGNC:17095"	"LARS2"	"MONDO:0014126"	"Perrault syndrome 4"	"OMIM:615300"	"Perrault syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17095"	"LARS2"	"OMIM:615300"	"Perrault syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-09 20:44:34"	""	""	"23541342, 26537577, 26657938, 26970254, 28832386"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LARS20Perrault"	"2023-11-30"
"GENCC_000106-HGNC_25726-OMIM_309585-HP_0001417-GENCC_100002"	"HGNC:25726"	"LAS1L"	"MONDO:0010665"	"Wilson-Turner syndrome"	"OMIM:309585"	"Wilson-Turner syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:25726"	"LAS1L"	"OMIM:309585"	"Wilson-Turner syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:08"	""	""	"24647030, 25644381, 27959697, 28973083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAS1L0LAS1Lrel"	"2023-11-30"
"GENCC_000106-HGNC_18874-OMIM_617514-HP_0000007-GENCC_100002"	"HGNC:18874"	"LAT"	"MONDO:0044721"	"severe combined immunodeficiency due to LAT deficiency"	"OMIM:617514"	"Immunodeficiency 52"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18874"	"LAT"	"OMIM:617514"	"Immunodeficiency 52"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:59"	""	""	"27242165, 27522155"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LAT0CID"	"2023-11-30"
"GENCC_000106-HGNC_6518-OMIM_215140-HP_0000007-GENCC_100002"	"HGNC:6518"	"LBR"	"MONDO:0008974"	"Greenberg dysplasia"	"OMIM:215140"	"Greenberg skeletal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6518"	"LBR"	"OMIM:215140"	"Greenberg dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 09:16:51"	""	""	"12618959, 18382993, 21327084"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LBR0Greenbergdysp"	"2023-11-30"
"GENCC_000106-HGNC_6518-OMIM_618019-HP_0000007-GENCC_100002"	"HGNC:6518"	"LBR"	"MONDO:0018663"	"regressive spondylometaphyseal dysplasia"	"OMIM:618019"	"Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6518"	"LBR"	"OMIM:618019"	"Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-13 15:24:51"	""	""	"23824842, 25348816, 30448303, 34467646"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LBR0PHASK"	"2023-11-30"
"GENCC_000106-HGNC_6518-OMIM_169400-HP_0000006-GENCC_100002"	"HGNC:6518"	"LBR"	"MONDO:0008214"	"Pelger-Huet anomaly"	"OMIM:169400"	"Pelger-Huet anomaly"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6518"	"LBR"	"OMIM:169400"	"Pelger-Huet anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:15"	""	""	"12118250, 18382993, 21327084"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LBR0PelgerHuetAnom"	"2023-11-30"
"GENCC_000106-HGNC_6522-OMIM_136120-HP_0000007-GENCC_100002"	"HGNC:6522"	"LCAT"	"MONDO:0007620"	"fish eye disease"	"OMIM:136120"	"Fish-eye disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6522"	"LCAT"	"OMIM:136120"	"fish eye disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"15994445, 8432868, 8755645"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LCAT0LCATdefic"	"2023-11-30"
"GENCC_000106-HGNC_6524-OMIM_615758-HP_0000007-GENCC_100002"	"HGNC:6524"	"LCK"	"MONDO:0014334"	"severe combined immunodeficiency due to LCK deficiency"	"OMIM:615758"	"Immunodeficiency 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6524"	"LCK"	"OMIM:615758"	"severe combined immunodeficiency due to LCK deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"11351273, 1579166, 22985903, 27087313, 29610179, 9664084"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LCK0CID"	"2023-11-30"
"GENCC_000106-HGNC_6529-OMIM_619374-HP_0000005-GENCC_100004"	"HGNC:6529"	"LCP2"	"MONDO:0030302"	"immunodeficiency 81"	"OMIM:619374"	"Immunodeficiency 81"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6529"	"LCP2"	"OMIM:619374"	"immunodeficiency 81"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-24 15:36:18"	""	""	"33231617, 37211057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LCP20LCP2rel"	"2023-11-30"
"GENCC_000106-HGNC_15710-OMIM_609452-HP_0000006-GENCC_100002"	"HGNC:15710"	"LDB3"	"MONDO:0012277"	"myofibrillar myopathy 4"	"OMIM:609452"	"Myopathy, myofibrillar, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15710"	"LDB3"	"OMIM:609452"	"myofibrillar myopathy 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-22 13:38:58"	""	""	"15668942, 17337483, 24668811, 27546599, 33742095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LDB30MFM"	"2023-11-30"
"GENCC_000106-HGNC_6547-OMIM_143890-HP_0000006-GENCC_100002"	"HGNC:6547"	"LDLR"	"MONDO:0007750"	"hypercholesterolemia, familial, 1"	"OMIM:143890"	"Hypercholesterolemia, familial, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6547"	"LDLR"	"OMIM:143890"	"hypercholesterolemia, familial, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-10 15:25:01"	""	""	"174884, 20809525, 23776352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LDLR0FamHypercholest"	"2023-11-30"
"GENCC_000106-HGNC_28128-OMIM_617562-HP_0000007-GENCC_100002"	"HGNC:28128"	"TMEM107"	"MONDO:0033044"	"Meckel syndrome 13"	"OMIM:617562"	"?Joubert syndrome 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28128"	"TMEM107"	"OMIM:617562"	"Meckel syndrome 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"22698544, 24901346, 26123494, 26518474"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1070Joubert"	"2023-11-30"
"GENCC_000106-HGNC_21244-OMIM_212500-HP_0000007-GENCC_100004"	"HGNC:21244"	"LEMD2"	"MONDO:0008925"	"cataract 46 juvenile-onset"	"OMIM:212500"	"Cataract 46, juvenile-onset"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21244"	"LEMD2"	"OMIM:212500"	"cataract 46 juvenile-onset"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-28 20:08:24"	""	""	"25790465, 26788539, 31061923, 36656972"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LEMD20Cataract"	"2023-11-30"
"GENCC_000106-HGNC_21244-OMIM_619322-HP_0000006-GENCC_100002"	"HGNC:21244"	"LEMD2"	"MONDO:0859147"	"Marbach-Rustad progeroid syndrome"	"OMIM:619322"	"Marbach-Rustad progeroid syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21244"	"LEMD2"	"OMIM:619322"	"Marbach-Rustad progeroid syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-24 21:35:47"	""	""	"28135719, 30905398"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LEMD20LEMD2rel"	"2023-11-30"
"GENCC_000106-HGNC_28887-OMIM_166700-HP_0000006-GENCC_100002"	"HGNC:28887"	"LEMD3"	"MONDO:0008157"	"Buschke-Ollendorff syndrome"	"OMIM:166700"	"Osteopoikilosis with or without melorheostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28887"	"LEMD3"	"OMIM:166700"	"Buschke-Ollendorff syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 09:57:54"	""	""	"121274, 15489854, 16470551, 17087626, 19438932, 20678097, 20732851"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LEMD30BuschkeOllendor"	"2023-11-30"
"GENCC_000106-HGNC_28128-OMIM_617563-HP_0000005-GENCC_100004"	"HGNC:28128"	"TMEM107"	"MONDO:0033045"	"orofaciodigital syndrome 16"	"OMIM:617563"	"Orofaciodigital syndrome XVI"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28128"	"TMEM107"	"OMIM:617563"	"Orofaciodigital syndrome XVI"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"249013446, 26518474, 28289185"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1070OFD"	"2023-11-30"
"GENCC_000106-HGNC_6560-OMIM_609813-HP_0000007-GENCC_100002"	"HGNC:6560"	"LFNG"	"MONDO:0012349"	"spondylocostal dysostosis 3, autosomal recessive"	"OMIM:609813"	"Spondylocostal dysostosis 3, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6560"	"LFNG"	"OMIM:609813"	"spondylocostal dysostosis 3, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-30 12:38:28"	""	""	"16385447, 29459493, 30196550, 30531807, 9690472"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LFNG0Spondylocostal"	"2023-11-30"
"GENCC_000106-HGNC_6948-OMIM_617564-HP_0000005-GENCC_100004"	"HGNC:6948"	"MCM5"	"MONDO:0033046"	"Meier-Gorlin syndrome 8"	"OMIM:617564"	"?Meier-Gorlin syndrome 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6948"	"MCM5"	"OMIM:617564"	"?Meier-Gorlin syndrome 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:03"	""	""	"121194, 251424, 28198391"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCM50MeierGorlin"	"2023-11-30"
"GENCC_000106-HGNC_9956-OMIM_617585-HP_0000005-GENCC_100004"	"HGNC:9956"	"RELB"	"MONDO:0054696"	"immunodeficiency 53"	"OMIM:617585"	"?Immunodeficiency 53"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9956"	"RELB"	"OMIM:617585"	"?Immunodeficiency 53"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:03"	""	""	"26385063, 33046446, 33083013"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RELB0Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_6284-OMIM_617643-HP_0000007-GENCC_100002"	"HGNC:6284"	"KCNMA1"	"MONDO:0060551"	"cerebellar atrophy, developmental delay, and seizures"	"OMIM:617643"	"Cerebellar atrophy, developmental delay, and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6284"	"KCNMA1"	"OMIM:617643"	"Cerebellar atrophy, developmental delay, and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-15 13:41:37"	""	""	"1971847475, 27567911, 29545233"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNMA10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_6585-OMIM_238320-HP_0000007-GENCC_100002"	"HGNC:6585"	"LHCGR"	"MONDO:0009384"	"Leydig cell hypoplasia, type 1"	"OMIM:238320"	"Luteinizing hormone resistance, female"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6585"	"LHCGR"	"OMIM:238320"	"Leydig cell hypoplasia with hypergonadotropic hypogonadism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 12:59:02"	""	""	"11145748, 15607529, 18508780, 23044874, 25383892, 27016457, 27899157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LHCGR046,XY DSD"	"2023-11-30"
"GENCC_000106-HGNC_6585-OMIM_176410-HP_0000006-GENCC_100002"	"HGNC:6585"	"LHCGR"	"MONDO:0008303"	"familial male-limited precocious puberty"	"OMIM:176410"	"Precocious puberty, male"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6585"	"LHCGR"	"OMIM:176410"	"Leydig cell adenoma, somatic, with precocious puberty"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:25"	""	""	"11200941, 21211360, 23044874, 8607787"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LHCGR0CPP"	"2023-11-30"
"GENCC_000106-HGNC_6597-OMIM_601559-HP_0000007-GENCC_100002"	"HGNC:6597"	"LIFR"	"MONDO:0800043"	"Stüve-Wiedemann syndrome 1"	"OMIM:601559"	"Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6597"	"LIFR"	"OMIM:601559"	"St√ºve-Wiedemann syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"121408, 14740318, 18546280, 20447141, 24988918, 251394, 251466, 25540807, 7789261"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIFR0StuveWiedemann"	"2023-11-30"
"GENCC_000106-HGNC_1770-OMIM_617694-HP_0000007-GENCC_100002"	"HGNC:1770"	"CDK10"	"MONDO:0044324"	"Al Kaissi syndrome"	"OMIM:617694"	"Al Kaissi syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1770"	"CDK10"	"OMIM:617694"	"Al Kaissi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-02 08:38:29"	""	""	"26539891, 28886341, 29130579"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDK100Al Kaissi"	"2023-11-30"
"GENCC_000106-HGNC_28569-OMIM_617706-HP_0000007-GENCC_100002"	"HGNC:28569"	"MEIOB"	"MONDO:0054726"	"spermatogenic failure 22"	"OMIM:617706"	"Spermatogenic failure 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28569"	"MEIOB"	"OMIM:617706"	"?Spermatogenic failure 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-18 16:17:16"	""	""	"24068956, 24240703, 28206990, 30838384"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MEIOB0Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_6601-OMIM_606593-HP_0000007-GENCC_100002"	"HGNC:6601"	"LIG4"	"MONDO:0011686"	"DNA ligase IV deficiency"	"OMIM:606593"	"LIG4 syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6601"	"LIG4"	"OMIM:606593"	"DNA ligase IV deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 10:07:31"	""	""	"10395545, 11256071, 11779494, 16358361, 20133615, 20687505, 21664875, 24027040, 27063650, 37004747, 9677708"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIG40SCID"	"2023-11-30"
"GENCC_000106-HGNC_6610-OMIM_615277-HP_0000007-GENCC_100002"	"HGNC:6610"	"LIM2"	"MONDO:0014111"	"cataract 19 multiple types"	"OMIM:615277"	"Cataract 19, multiple types"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6610"	"LIM2"	"OMIM:615277"	"cataract 19 multiple types"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 23:20:20"	""	""	"10851259, 11917274, 17251442, 18596884, 21386927, 27814360, 9238094"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIM20Cataract"	"2023-11-30"
"GENCC_000106-HGNC_16084-OMIM_616827-HP_0000005-GENCC_100004"	"HGNC:16084"	"LIMS2"	"MONDO:0014788"	"autosomal recessive limb-girdle muscular dystrophy type 2W"	"OMIM:616827"	"?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16084"	"LIMS2"	"OMIM:616827"	"autosomal recessive limb-girdle muscular dystrophy type 2W"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:56"	""	""	"12167643, 25589244, 29431110, 31066050"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIMS20LGMD"	"2023-11-30"
"GENCC_000106-HGNC_21205-OMIM_618103-HP_0000005-GENCC_100004"	"HGNC:21205"	"LINGO1"	"MONDO:0020846"	"intellectual disability, autosomal recessive 64"	"OMIM:618103"	"Intellectual developmental disorder, autosomal recessive 64"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21205"	"LINGO1"	"OMIM:618103"	"intellectual disability, autosomal recessive 64"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:10"	""	""	"15895088, 27457812, 28135719, 28805617, 28837161, 30842974"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LINGO10LINGO1rel"	"2023-11-30"
"GENCC_000106-HGNC_6619-OMIM_614025-HP_0000005-GENCC_100004"	"HGNC:6619"	"LIPC"	"MONDO:0013533"	"hyperlipidemia due to hepatic triglyceride lipase deficiency"	"OMIM:614025"	"Hepatic lipase deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6619"	"LIPC"	"OMIM:614025"	"hyperlipidemia due to hepatic triglyceride lipase deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"10606208, 10729390, 117453, 121242, 12777476, 16368783, 1671786, 1883393, 19428034, 246272, 273594, 275576, 276960, 277186, 7852377, 8123642, 8732782, 8808756, 9050773"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIPC0HepaticL"	"2023-11-30"
"GENCC_000106-HGNC_17158-OMIM_617770-HP_0000006-GENCC_100004"	"HGNC:17158"	"PLD3"	"MONDO:0033481"	"spinocerebellar ataxia 46"	"OMIM:617770"	"?Spinocerebellar ataxia 46"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17158"	"PLD3"	"OMIM:617770"	"?Spinocerebellar ataxia 46"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-11-24 08:38:42"	""	""	"29053796"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLD30SCA"	"2023-11-30"
"GENCC_000106-HGNC_23452-OMIM_613943-HP_0000005-GENCC_100004"	"HGNC:23452"	"LIPN"	"MONDO:0013495"	"autosomal recessive congenital ichthyosis 8"	"OMIM:613943"	"Ichthyosis, congenital, autosomal recessive 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23452"	"LIPN"	"OMIM:613943"	"autosomal recessive congenital ichthyosis 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"21439540"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIPN0Ichthyos"	"2023-11-30"
"GENCC_000106-HGNC_29569-OMIM_616299-HP_0000007-GENCC_100002"	"HGNC:29569"	"LIPT1"	"MONDO:0014576"	"lipoyl transferase 1 deficiency"	"OMIM:616299"	"Lipoyltransferase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29569"	"LIPT1"	"OMIM:616299"	"lipoyl transferase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"24256811, 24341803, 27247813, 29681092, 31042466"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIPT10Lipt1Def"	"2023-11-30"
"GENCC_000106-HGNC_37216-OMIM_616299-HP_0000007-GENCC_100002"	"HGNC:37216"	"LIPT2"	"MONDO:0014576"	"lipoyl transferase 1 deficiency"	"OMIM:616299"	"Lipoyltransferase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:37216"	"LIPT2"	"OMIM:616299"	"lipoyl transferase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"1933869909, 28757203, 28803783"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIPT20Encephalopathy"	"2023-11-30"
"GENCC_000106-HGNC_19263-OMIM_616887-HP_0000007-GENCC_100004"	"HGNC:19263"	"LMAN2L"	"MONDO:0014815"	"intellectual disability, autosomal recessive 52"	"OMIM:616887"	"?Intellectual developmental disorder, autosomal recessive 52"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19263"	"LMAN2L"	"OMIM:616887"	"intellectual disability, autosomal recessive 52"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:56"	""	""	"26566883"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMAN2L0ID"	"2023-11-30"
"GENCC_000106-HGNC_19263-OMIM_617863-HP_0000006-GENCC_100004"	"HGNC:19263"	"LMAN2L"	"MONDO:0029465"	"intellectual developmental disorder, autosomal dominant 69"	"OMIM:617863"	"?Intellectual developmental disorder, autosomal dominant 69"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19263"	"LMAN2L"	"OMIM:617863"	"?Intellectual developmental disorder, autosomal dominant 69"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-01 14:59:55"	""	""	"31020005"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMAN2L0IDRE"	"2023-11-30"
"GENCC_000106-HGNC_13243-OMIM_200500-HP_0000007-GENCC_100002"	"HGNC:13243"	"LMBR1"	"MONDO:0008700"	"acheiropody"	"OMIM:200500"	"Acheiropody"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13243"	"LMBR1"	"OMIM:200500"	"Acheiropody"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-15 16:48:22"	""	""	"11090342, 11606546, 26749485"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMBR10Acheiropody"	"2023-11-30"
"GENCC_000106-HGNC_13243-OMIM_174500-HP_0000006-GENCC_100002"	"HGNC:13243"	"LMBR1"	"MONDO:0008270"	"polydactyly of a triphalangeal thumb"	"OMIM:174500"	"Triphalangeal thumb"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13243"	"LMBR1"	"OMIM:174500"	"polydactyly of a triphalangeal thumb"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-15 16:36:00"	""	""	"135750, 174500, 186200, 188740, 24456159, 29543231"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMBR10Polydactyly"	"2023-11-30"
"GENCC_000106-HGNC_7432-OMIM_617780-HP_0000007-GENCC_100002"	"HGNC:7432"	"MTHFD1"	"MONDO:0060611"	"combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"	"OMIM:617780"	"Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7432"	"MTHFD1"	"OMIM:617780"	"Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-02 13:37:32"	""	""	"19033438, 21813566, 25548164, 25633902, 27707659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTHFD10MTHFD1def"	"2023-11-30"
"GENCC_000106-HGNC_6636-OMIM_176670-HP_0000006-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0008310"	"Hutchinson-Gilford progeria syndrome"	"OMIM:176670"	"Hutchinson-Gilford progeria"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6636"	"LMNA"	"OMIM:176670"	"Hutchinson-Gilford progeria syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-13 14:19:29"	""	""	"12714972, 15317753, 25649378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HGPS"	"2023-11-30"
"GENCC_000106-HGNC_6636-OMIM_605588-HP_0000006-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0011569"	"Charcot-Marie-Tooth disease type 2B1"	"OMIM:605588"	"Charcot-Marie-Tooth disease, type 2B1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6636"	"LMNA"	"OMIM:605588"	"Charcot-Marie-Tooth disease type 2B1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:58"	""	""	"11799477, 14985400, 1521950, 18585512, 18926329, 193996, 25829471, 29029073, 3042067"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNA0ArrhythCardiomy"	"2023-11-30"
"GENCC_000106-HGNC_6636-OMIM_605588-HP_0000007-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0011569"	"Charcot-Marie-Tooth disease type 2B1"	"OMIM:605588"	"Charcot-Marie-Tooth disease, type 2B1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6636"	"LMNA"	"OMIM:605588"	"Charcot-Marie-Tooth disease type 2B1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:58"	""	""	"11799477, 12467734, 14607793, 14985400, 19424285, 30373780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNA0CMT"	"2023-11-30"
"GENCC_000106-HGNC_29077-OMIM_617781-HP_0000007-GENCC_100002"	"HGNC:29077"	"IFT140"	"MONDO:0054708"	"retinitis pigmentosa 80"	"OMIM:617781"	"Retinitis pigmentosa 80"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29077"	"IFT140"	"OMIM:617781"	"Retinitis pigmentosa 80"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 17:19:43"	""	""	"26216056, 26968735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT1400RP"	"2023-11-30"
"GENCC_000106-HGNC_6636-OMIM_616516-HP_0000007-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0014676"	"Emery-Dreifuss muscular dystrophy 3, autosomal recessive"	"OMIM:616516"	"Emery-Dreifuss muscular dystrophy 3, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6636"	"LMNA"	"OMIM:616516"	"Emery-Dreifuss muscular dystrophy 3, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-22 13:21:45"	""	""	"10739764, 22431096, 23313286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNA0LGMD02"	"2023-11-30"
"GENCC_000106-HGNC_6636-OMIM_151660-HP_0000006-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0007906"	"familial partial lipodystrophy, Dunnigan type"	"OMIM:151660"	"Lipodystrophy, familial partial, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6636"	"LMNA"	"OMIM:151660"	"familial partial lipodystrophy, Dunnigan type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-24 15:46:52"	""	""	"21346069, 23313286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNA0Lipodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_6636-OMIM_248370-HP_0000007-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0009557"	"mandibuloacral dysplasia with type A lipodystrophy"	"OMIM:248370"	"Mandibuloacral dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6636"	"LMNA"	"OMIM:248370"	"Mandibuloacral dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-13 09:07:56"	""	""	"15286156, 16825282, 17935239, 21738662, 22549407, 26602028, 37387251"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNA0Progeria"	"2023-11-30"
"GENCC_000106-HGNC_6636-OMIM_610140-HP_0000006-GENCC_100002"	"HGNC:6636"	"LMNA"	"MONDO:0012417"	"heart-hand syndrome, Slovenian type"	"OMIM:610140"	"Heart-hand syndrome, Slovenian type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6636"	"LMNA"	"OMIM:610140"	"heart-hand syndrome, Slovenian type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-07 12:04:46"	""	""	"15996213, 18611980, 22019351, 24642510, 25256213, 27723096, 29211919, 29770364, 34808346"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNA0SyndromicDCM"	"2023-11-30"
"GENCC_000106-HGNC_6637-OMIM_169500-HP_0000006-GENCC_100002"	"HGNC:6637"	"LMNB1"	"MONDO:0008215"	"adult-onset autosomal dominant demyelinating leukodystrophy"	"OMIM:169500"	"Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6637"	"LMNB1"	"OMIM:169500"	"adult-onset autosomal dominant demyelinating leukodystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:00:34"	""	""	"126054572, 126072145, 126199753, 126202657, 1.5888E+15, 16951681, 21225301, 21909802, 23649844, 23681646, 28716252"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNB10Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_6637-OMIM_619179-HP_0000006-GENCC_100002"	"HGNC:6637"	"LMNB1"	"MONDO:0030928"	"microcephaly 26, primary, autosomal dominant"	"OMIM:619179"	"Microcephaly 26, primary, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6637"	"LMNB1"	"OMIM:619179"	"Microcephaly 26, primary, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-22 12:39:25"	""	""	"32910914"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNB10Microceph"	"2023-11-30"
"GENCC_000106-HGNC_6638-OMIM_616540-HP_0000007-GENCC_100002"	"HGNC:6638"	"LMNB2"	"MONDO:0014685"	"progressive myoclonic epilepsy type 9"	"OMIM:616540"	"?Epilepsy, progressive myoclonic, 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6638"	"LMNB2"	"OMIM:616540"	"progressive myoclonic epilepsy type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-18 14:19:10"	""	""	"25954030, 33783721, 34466237, 34489640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNB20EPM1"	"2023-11-30"
"GENCC_000106-HGNC_29300-OMIM_617783-HP_0000005-GENCC_100004"	"HGNC:29300"	"KANK2"	"MONDO:0033280"	"nephrotic syndrome 16"	"OMIM:617783"	"Nephrotic syndrome, type 16"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29300"	"KANK2"	"OMIM:617783"	"Nephrotic syndrome, type 16"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:05"	""	""	"25961457"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KANK20NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_25539-OMIM_617784-HP_0000005-GENCC_100004"	"HGNC:25539"	"RFWD3"	"MONDO:0044325"	"Fanconi anemia, complementation group W"	"OMIM:617784"	"?Fanconi anemia, complementation group W"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25539"	"RFWD3"	"OMIM:617784"	"?Fanconi anemia, complementation group W"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:04"	""	""	"28691929"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RFWD30Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_6647-OMIM_619362-HP_0000005-GENCC_100004"	"HGNC:6647"	"LMOD1"	"MONDO:0030294"	"megacystis-microcolon-intestinal hypoperistalsis syndrome 3"	"OMIM:619362"	"?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6647"	"LMOD1"	"OMIM:619362"	"?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 12:43:33"	""	""	"28292896"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMOD10LMOD1rel"	"2023-11-30"
"GENCC_000106-HGNC_6648-OMIM_619897-HP_0000007-GENCC_100002"	"HGNC:6648"	"LMOD2"	"MONDO:0030887"	"cardiomyopathy, dilated, 2G"	"OMIM:619897"	"Cardiomyopathy, dilated, 2G"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6648"	"LMOD2"	"OMIM:619897"	"cardiomyopathy, dilated, 2G"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:28:45"	""	""	"31517052, 34888509, 35082396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMOD20DCM"	"2023-11-30"
"GENCC_000106-HGNC_6653-OMIM_601412-HP_0000006-GENCC_100002"	"HGNC:6653"	"LMX1A"	"MONDO:0011074"	"autosomal dominant nonsyndromic hearing loss 7"	"OMIM:601412"	"Deafness, autosomal dominant 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6653"	"LMX1A"	"OMIM:601412"	"autosomal dominant nonsyndromic hearing loss 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-20 18:51:40"	""	""	"23226461, 29754270, 29971487, 32840933, 35254497"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMX1A0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_6654-OMIM_161200-HP_0000006-GENCC_100002"	"HGNC:6654"	"LMX1B"	"MONDO:0008061"	"nail-patella syndrome"	"OMIM:161200"	"Nail-patella syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6654"	"LMX1B"	"OMIM:161200"	"nail-patella syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-15 13:39:28"	""	""	"10571942, 12624132, 15498463, 15928687, 18414507, 9590287"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMX1B0NailPatella"	"2023-11-30"
"GENCC_000106-HGNC_9479-OMIM_600373-HP_0000007-GENCC_100002"	"HGNC:9479"	"LONP1"	"MONDO:0010879"	"CODAS syndrome"	"OMIM:600373"	"CODAS syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9479"	"LONP1"	"OMIM:600373"	"CODAS syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 12:31:18"	""	""	"25017063, 25574826, 25808063, 28148925"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LONP10CodasSyn"	"2023-11-30"
"GENCC_000106-HGNC_6663-OMIM_604117-HP_0000006-GENCC_100002"	"HGNC:6663"	"LORICRIN"	"MONDO:0011396"	"loricrin keratoderma"	"OMIM:604117"	"Vohwinkel syndrome with ichthyosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6663"	"LORICRIN"	"OMIM:604117"	"loricrin keratoderma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:26"	""	""	"11038186, 12615358, 15102081, 22831754, 25965869, 8673107, 9764857"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LOR0Vohwinke"	"2023-11-30"
"GENCC_000106-HGNC_26521-OMIM_613079-HP_0000007-GENCC_100002"	"HGNC:26521"	"LOXHD1"	"MONDO:0013119"	"autosomal recessive nonsyndromic hearing loss 77"	"OMIM:613079"	"Deafness, autosomal recessive 77"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26521"	"LOXHD1"	"OMIM:613079"	"autosomal recessive nonsyndromic hearing loss 77"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-05 12:26:49"	""	""	"157920, 17329413, 190444, 19732867, 21465660, 22975204, 25792669"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LOXHD10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_13869-OMIM_619781-HP_0000005-GENCC_100004"	"HGNC:13869"	"LOXL3"	"MONDO:0030697"	"myopia 28, autosomal recessive"	"OMIM:619781"	"Myopia 28, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13869"	"LOXL3"	"OMIM:619781"	"myopia 28, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-21 18:35:09"	""	""	"26957899, 29802726, 30029678, 30392784"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LOXL30LOXL3rel"	"2023-11-30"
"GENCC_000106-HGNC_15520-OMIM_278150-HP_0000007-GENCC_100002"	"HGNC:15520"	"LPAR6"	"MONDO:0010206"	"hypotrichosis 8"	"OMIM:278150"	"Woolly hair, autosomal recessive 1, with or without hypotrichosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15520"	"LPAR6"	"OMIM:278150"	"hypotrichosis 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"18297070, 18297072, 18461368, 19944572, 20015179, 21426374, 22385360, 22531990, 22621192, 25828854"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LPAR60Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_13345-OMIM_268200-HP_0000007-GENCC_100002"	"HGNC:13345"	"LPIN1"	"MONDO:0009992"	"myoglobinuria, acute recurrent, autosomal recessive"	"OMIM:268200"	"Myoglobinuria, acute recurrent, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13345"	"LPIN1"	"OMIM:268200"	"myoglobinuria, acute recurrent, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-20 19:34:11"	""	""	"18817903, 20583302, 22481384, 26111941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LPIN10Myoglobinuria"	"2023-11-30"
"GENCC_000106-HGNC_6677-OMIM_238600-HP_0000007-GENCC_100002"	"HGNC:6677"	"LPL"	"MONDO:0009387"	"familial lipoprotein lipase deficiency"	"OMIM:238600"	"[High density lipoprotein cholesterol level QTL 11]"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6677"	"LPL"	"OMIM:238600"	"familial lipoprotein lipase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-06 16:22:37"	""	""	"11334614, 1752947, 20301485, 24291057, 25966443, 8675619, 9225235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LPL0Chylomicronemia"	"2023-11-30"
"GENCC_000106-HGNC_6685-OMIM_613341-HP_0000007-GENCC_100002"	"HGNC:6685"	"LRAT"	"MONDO:0013231"	"Leber congenital amaurosis 14"	"OMIM:613341"	"Retinitis pigmentosa, juvenile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6685"	"LRAT"	"OMIM:613341"	"Leber congenital amaurosis 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 17:32:40"	""	""	"14684738, 17011878, 22559933, 24265693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRAT0Leber"	"2023-11-30"
"GENCC_000106-HGNC_1742-OMIM_614700-HP_0000007-GENCC_100002"	"HGNC:1742"	"LRBA"	"MONDO:0013863"	"combined immunodeficiency due to LRBA deficiency"	"OMIM:614700"	"Immunodeficiency, common variable, 8, with autoimmunity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1742"	"LRBA"	"OMIM:614700"	"combined immunodeficiency due to LRBA deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-19 04:50:20"	""	""	"22721650, 25468195, 26206937, 26768763, 27418640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRBA0LRBAdef"	"2023-11-30"
"GENCC_000106-HGNC_30299-OMIM_619477-HP_0000005-GENCC_100004"	"HGNC:30299"	"LRIF1"	"MONDO:0030354"	"facioscapulohumeral muscular dystrophy 3, digenic"	"OMIM:619477"	"?Facioscapulohumeral muscular dystrophy 3, digenic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30299"	"LRIF1"	"OMIM:619477"	"?Facioscapulohumeral muscular dystrophy 3, digenic"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-21 11:03:05"	""	""	"32467133"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRIF10FSHD"	"2023-11-30"
"GENCC_000106-HGNC_24783-OMIM_615058-HP_0000007-GENCC_100002"	"HGNC:24783"	"LRIT3"	"MONDO:0014026"	"congenital stationary night blindness 1F"	"OMIM:615058"	"Night blindness, congenital stationary (complete), 1F, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24783"	"LRIT3"	"OMIM:615058"	"congenital stationary night blindness 1F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"23246293, 24598786, 25307992, 27428514, 31578364"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRIT30NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_18037-OMIM_617808-HP_0000006-GENCC_100002"	"HGNC:18037"	"ARID2"	"MONDO:0033492"	"Coffin-Siris syndrome 6"	"OMIM:617808"	"Coffin-Siris syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18037"	"ARID2"	"OMIM:617808"	"Coffin-Siris syndrome 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:48:57"	""	""	"25299188, 26238514, 28124119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARID20ID"	"2023-11-30"
"GENCC_000106-HGNC_6696-OMIM_616304-HP_0000007-GENCC_100004"	"HGNC:6696"	"LRP4"	"MONDO:0014578"	"congenital myasthenic syndrome 17"	"OMIM:616304"	"?Myasthenic syndrome, congenital, 17"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6696"	"LRP4"	"OMIM:616304"	"congenital myasthenic syndrome 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-30 13:47:32"	""	""	"24234652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP40CMS"	"2023-11-30"
"GENCC_000106-HGNC_6696-OMIM_212780-HP_0000007-GENCC_100002"	"HGNC:6696"	"LRP4"	"MONDO:0008931"	"Cenani-Lenz syndactyly syndrome"	"OMIM:212780"	"Cenani-Lenz syndactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6696"	"LRP4"	"OMIM:212780"	"Cenani-Lenz syndactyly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-07 16:04:43"	""	""	"20381006, 23636941, 24924585"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP40Cenani"	"2023-11-30"
"GENCC_000106-HGNC_6697-OMIM_144750-HP_0000006-GENCC_100002"	"HGNC:6697"	"LRP5"	"MONDO:0007764"	"autosomal dominant osteosclerosis, Worth type"	"OMIM:144750"	"Endosteal hyperostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6697"	"LRP5"	"OMIM:144750"	"autosomal dominant osteosclerosis, Worth type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 00:56:54"	""	""	"11741193, 12015390, 12579474, 18521528, 26348019"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP50HBM"	"2023-11-30"
"GENCC_000106-HGNC_6697-OMIM_259770-HP_0000007-GENCC_100002"	"HGNC:6697"	"LRP5"	"MONDO:0009820"	"osteoporosis-pseudoglioma syndrome"	"OMIM:259770"	"Osteoporosis-pseudoglioma syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6697"	"LRP5"	"OMIM:259770"	"osteoporosis-pseudoglioma syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 03:18:45"	""	""	"11719191, 11956231, 16252235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP50OPPG"	"2023-11-30"
"GENCC_000106-HGNC_6697-OMIM_601813-HP_0000006-GENCC_100002"	"HGNC:6697"	"LRP5"	"MONDO:0011151"	"exudative vitreoretinopathy 4"	"OMIM:601813"	"Exudative vitreoretinopathy 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6697"	"LRP5"	"OMIM:601813"	"exudative vitreoretinopathy 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-11 12:43:01"	""	""	"11719191, 14750620, 15824851, 15981244, 16252235, 18602879, 20301326, 22487062, 25711638"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP50OsteoFEVR"	"2023-11-30"
"GENCC_000106-HGNC_6697-OMIM_617875-HP_0000006-GENCC_100002"	"HGNC:6697"	"LRP5"	"MONDO:0044327"	"polycystic liver disease 4 with or without kidney cysts"	"OMIM:617875"	"Polycystic liver disease 4 with or without kidney cysts"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6697"	"LRP5"	"OMIM:617875"	"polycystic liver disease 4 with or without kidney cysts"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-04-30 13:27:08"	""	""	"24706814, 28862642"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP50Polycyst"	"2023-11-30"
"GENCC_000106-HGNC_6698-OMIM_616724-HP_0000006-GENCC_100002"	"HGNC:6698"	"LRP6"	"MONDO:0014749"	"tooth agenesis, selective, 7"	"OMIM:616724"	"Tooth agenesis, selective, 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6698"	"LRP6"	"OMIM:616724"	"tooth agenesis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 14:37:46"	""	""	"26387593"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRP60ToothAge"	"2023-11-30"
"GENCC_000106-HGNC_28980-OMIM_617827-HP_0000005-GENCC_100004"	"HGNC:28980"	"GINS1"	"MONDO:0044725"	"combined immunodeficiency due to GINS1 deficiency"	"OMIM:617827"	"Immunodeficiency 55"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28980"	"GINS1"	"OMIM:617827"	"Immunodeficiency 55"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:06"	""	""	"28414293, 31630891"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GINS10GINS1rel"	"2023-11-30"
"GENCC_000106-HGNC_8032-OMIM_617830-HP_0000006-GENCC_100002"	"HGNC:8032"	"NTRK2"	"MONDO:0033367"	"developmental and epileptic encephalopathy, 58"	"OMIM:617830"	"Developmental and epileptic encephalopathy 58"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8032"	"NTRK2"	"OMIM:617830"	"Developmental and epileptic encephalopathy 58"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:24:57"	""	""	"29100083, 29652976"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NTRK20EpilOHN"	"2023-11-30"
"GENCC_000106-HGNC_25430-OMIM_618254-HP_0000007-GENCC_100002"	"HGNC:25430"	"LRRC56"	"MONDO:0032637"	"ciliary dyskinesia, primary, 39"	"OMIM:618254"	"Ciliary dyskinesia, primary, 39"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25430"	"LRRC56"	"OMIM:618254"	"ciliary dyskinesia, primary, 39"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-14 14:51:46"	""	""	"147810, 30388400"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRRC560PCD"	"2023-11-30"
"GENCC_000106-HGNC_29669-OMIM_617866-HP_0000007-GENCC_100002"	"HGNC:29669"	"IFT43"	"MONDO:0036483"	"short-rib thoracic dysplasia 18 with polydactyly"	"OMIM:617866"	"Short-rib thoracic dysplasia 18 with polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29669"	"IFT43"	"OMIM:617866"	"Short-rib thoracic dysplasia 18 with polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-30 11:56:04"	""	""	"1287821998, 1552343285, 1.55235E+15, 21378380, 28400947, 29896747"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT430ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_18618-OMIM_607060-HP_0000006-GENCC_100002"	"HGNC:18618"	"LRRK2"	"MONDO:0011764"	"autosomal dominant Parkinson disease 8"	"OMIM:607060"	"{Parkinson disease 8}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18618"	"LRRK2"	"OMIM:607060"	"autosomal dominant Parkinson disease 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-07 20:34:49"	""	""	"15726496, 16251215, 17200152, 17447891, 20457952, 20642453, 22575234, 26869347"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRRK20Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_29669-OMIM_617871-HP_0000005-GENCC_100004"	"HGNC:29669"	"IFT43"	"MONDO:0036482"	"retinitis pigmentosa 81"	"OMIM:617871"	"?Retinitis pigmentosa 81"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29669"	"IFT43"	"OMIM:617871"	"?Retinitis pigmentosa 81"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-26 10:27:52"	""	""	"28973684"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT430RetinalDegen"	"2023-11-30"
"GENCC_000106-HGNC_14499-OMIM_617872-HP_0000005-GENCC_100004"	"HGNC:14499"	"MRPS7"	"MONDO:0054741"	"combined oxidative phosphorylation deficiency 34"	"OMIM:617872"	"?Combined oxidative phosphorylation deficiency 34"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14499"	"MRPS7"	"OMIM:617872"	"?Combined oxidative phosphorylation deficiency 34"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-12-08 21:54:57"	""	""	"25556185, 36421788"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS70MRPS7rel"	"2023-11-30"
"GENCC_000106-HGNC_30860-OMIM_619486-HP_0000005-GENCC_100004"	"HGNC:30860"	"LSM11"	"MONDO:0030361"	"Aicardi-Goutieres syndrome 8"	"OMIM:619486"	"?Aicardi-Goutieres syndrome 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30860"	"LSM11"	"OMIM:619486"	"?Aicardi-Goutieres syndrome 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-20 10:31:07"	""	""	"33230297"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LSM110AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_1069-OMIM_617877-HP_0000006-GENCC_100002"	"HGNC:1069"	"BMP2"	"MONDO:0100297"	"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"	"OMIM:617877"	"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1069"	"BMP2"	"OMIM:617877"	"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 15:45:19"	""	""	"28726809, 29198724"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BMP20BMP2rel"	"2023-11-30"
"GENCC_000106-HGNC_6708-OMIM_616509-HP_0000007-GENCC_100002"	"HGNC:6708"	"LSS"	"MONDO:0014673"	"cataract 44"	"OMIM:616509"	"Cataract 44"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6708"	"LSS"	"OMIM:616509"	"cataract 44"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-21 20:44:18"	""	""	"26200341, 27626380, 29016354, 37455568"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LSS0Cataract02"	"2023-11-30"
"GENCC_000106-HGNC_6714-OMIM_619451-HP_0000007-GENCC_100002"	"HGNC:6714"	"LTBP1"	"MONDO:0030337"	"cutis laxa, autosomal recessive, type 2E"	"OMIM:619451"	"Cutis laxa, autosomal recessive, type IIE"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6714"	"LTBP1"	"OMIM:619451"	"cutis laxa, autosomal recessive, type 2E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:54:41"	""	""	"33991472"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LTBP10CutisLaxaSyn"	"2023-11-30"
"GENCC_000106-HGNC_6715-OMIM_251750-HP_0000007-GENCC_100002"	"HGNC:6715"	"LTBP2"	"MONDO:0009633"	"microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"	"OMIM:251750"	"Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6715"	"LTBP2"	"OMIM:251750"	"microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-20 09:04:55"	""	""	"19361779, 19656777, 20179738, 20617341, 22025892, 33958902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LTBP20AntSegDiseases"	"2023-11-30"
"GENCC_000106-HGNC_14313-OMIM_617895-HP_0000007-GENCC_100002"	"HGNC:14313"	"IFT81"	"MONDO:0033485"	"short-rib thoracic dysplasia 19 with or without polydactyly"	"OMIM:617895"	"Short-rib thoracic dysplasia 19 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14313"	"IFT81"	"OMIM:617895"	"Short-rib thoracic dysplasia 19 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-18 08:02:24"	""	""	"26275418, 27666822"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT810ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_6715-OMIM_614819-HP_0000005-GENCC_100004"	"HGNC:6715"	"LTBP2"	"MONDO:0013899"	"Weill-Marchesani syndrome 3"	"OMIM:614819"	"?Weill-Marchesani syndrome 3, recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6715"	"LTBP2"	"OMIM:614819"	"Weill-Marchesani syndrome 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-30 13:30:00"	""	""	"22539340, 35011756"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LTBP20WeillMarch"	"2023-11-30"
"GENCC_000106-HGNC_6716-OMIM_601216-HP_0000007-GENCC_100002"	"HGNC:6716"	"LTBP3"	"MONDO:0011018"	"brachyolmia-amelogenesis imperfecta syndrome"	"OMIM:601216"	"Dental anomalies and short stature"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6716"	"LTBP3"	"OMIM:601216"	"brachyolmia-amelogenesis imperfecta syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 18:47:16"	""	""	"11790802, 19344874, 25669657, 25899461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LTBP30DentAnom"	"2023-11-30"
"GENCC_000106-HGNC_6716-OMIM_617809-HP_0000006-GENCC_100002"	"HGNC:6716"	"LTBP3"	"MONDO:0054722"	"geleophysic dysplasia 3"	"OMIM:617809"	"Geleophysic dysplasia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6716"	"LTBP3"	"OMIM:617809"	"geleophysic dysplasia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:22:17"	""	""	"27068007"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LTBP30Geleophysic"	"2023-11-30"
"GENCC_000106-HGNC_11584-OMIM_617900-HP_0000006-GENCC_100004"	"HGNC:11584"	"TBK1"	"MONDO:0054754"	"encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8"	"OMIM:617900"	"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11584"	"TBK1"	"OMIM:617900"	"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-09 09:10:36"	""	""	"22851595, 26513235, 30296527"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBK10Herpes"	"2023-11-30"
"GENCC_000106-HGNC_6735-OMIM_620376-HP_0000006-GENCC_100002"	"HGNC:6735"	"LYN"	"MONDO:0957271"	"autoinflammatory disease, systemic, with vasculitis"	"OMIM:620376"	"Autoinflammatory disease, systemic, with vasculitis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6735"	"LYN"	"OMIM:620376"	"Autoinflammatory disease, systemic, with vasculitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-18 22:49:28"	""	""	"28750028, 36122175, 36932076, 7585947"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LYN0AID"	"2023-11-30"
"GENCC_000106-HGNC_21365-OMIM_615595-HP_0000005-GENCC_100004"	"HGNC:21365"	"LYRM4"	"MONDO:0014269"	"combined oxidative phosphorylation deficiency 19"	"OMIM:615595"	"?Combined oxidative phosphorylation deficiency 19"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21365"	"LYRM4"	"OMIM:615595"	"combined oxidative phosphorylation deficiency 19"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"23814038, 31497476, 9454487"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LYRM40OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_6742-OMIM_616564-HP_0000006-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0014693"	"Noonan syndrome 10"	"OMIM:616564"	"Noonan syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6742"	"LZTR1"	"OMIM:616564"	"Noonan syndrome 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-06 22:16:52"	""	""	"25795793, 26446362, 274799, 278971, 287232, 303983, 30442762, 30442766, 30481304, 30859559"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LZTR10Noonan"	"2023-11-30"
"GENCC_000106-HGNC_6742-OMIM_615670-HP_0000006-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0014299"	"LZTR1-related schwannomatosis"	"OMIM:615670"	"{Schwannomatosis-2, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6742"	"LZTR1"	"OMIM:615670"	"schwannomatosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-07 19:59:05"	""	""	"15955931, 16534111, 23401320, 24362817, 25335493, 25480913"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LZTR10Schwannomatosis"	"2023-11-30"
"GENCC_000106-HGNC_25183-OMIM_619108-HP_0000007-GENCC_100004"	"HGNC:25183"	"M1AP"	"MONDO:0030846"	"spermatogenic failure 48"	"OMIM:619108"	"Spermatogenic failure 48"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25183"	"M1AP"	"OMIM:619108"	"Spermatogenic failure 48"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-23 14:27:13"	""	""	"23269666, 32017041, 32673564"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"M1AP0Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_6757-OMIM_618479-HP_0000007-GENCC_100002"	"HGNC:6757"	"MAB21L1"	"MONDO:0032774"	"cerebellar, ocular, craniofacial, and genital syndrome"	"OMIM:618479"	"Cerebellar, ocular, craniofacial, and genital syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6757"	"MAB21L1"	"OMIM:618479"	"cerebellar, ocular, craniofacial, and genital syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-14 13:17:47"	""	""	"12642482, 27103078, 30487245"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAB21L10COFG"	"2023-11-30"
"GENCC_000106-HGNC_13664-OMIM_618325-HP_0000006-GENCC_100002"	"HGNC:13664"	"MACF1"	"MONDO:0032677"	"lissencephaly 9 with complex brainstem malformation"	"OMIM:618325"	"Lissencephaly 9 with complex brainstem malformation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13664"	"MACF1"	"OMIM:618325"	"lissencephaly 9 with complex brainstem malformation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:26"	""	""	"29706646, 30471716, 35506549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MACF10Liss0brainstem"	"2023-11-30"
"GENCC_000106-HGNC_6762-OMIM_176807-HP_0000005-GENCC_100004"	"HGNC:6762"	"MAD1L1"	"MONDO:0023122"	"familial prostate carcinoma"	"OMIM:176807"	"Prostate cancer, somatic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6762"	"MAD1L1"	"OMIM:176807"	"familial prostate carcinoma"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-05-28 12:02:39"	""	""	"36322655"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAD1L10MAD1L1relcanc"	"2023-11-30"
"GENCC_000106-HGNC_6764-OMIM_617243-HP_0000005-GENCC_100004"	"HGNC:6764"	"MAD2L2"	"MONDO:0014985"	"Fanconi anemia complementation group V"	"OMIM:617243"	"?Fanconi anemia, complementation group V"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6764"	"MAD2L2"	"OMIM:617243"	"Fanconi anemia complementation group V"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:01"	""	""	"27500492"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAD2L20Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_6776-OMIM_601088-HP_0000006-GENCC_100002"	"HGNC:6776"	"MAF"	"MONDO:0010992"	"Ayme-Gripp syndrome"	"OMIM:601088"	"Ayme-Gripp syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6776"	"MAF"	"OMIM:601088"	"Ayme-Gripp syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 13:35:35"	""	""	"25865493, 28482824, 30160832"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAF0AymeGripp"	"2023-11-30"
"GENCC_000106-HGNC_4507-OMIM_617903-HP_0000006-GENCC_100002"	"HGNC:4507"	"GABBR2"	"MONDO:0060659"	"neurodevelopmental disorder with poor language and loss of hand skills"	"OMIM:617903"	"Neurodevelopmental disorder with poor language and loss of hand skills"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4507"	"GABBR2"	"OMIM:617903"	"Neurodevelopmental disorder with poor language and loss of hand skills"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-17 07:44:33"	""	""	"25262651, 26740508, 27541642, 28135719, 28191890, 28856709, 28867141, 29346770, 30174453, 31785789, 31957018, 34800434, 35599849, 35616356, 35872528"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GABBR20RettSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_6408-OMIM_166300-HP_0000006-GENCC_100002"	"HGNC:6408"	"MAFB"	"MONDO:0008152"	"multicentric carpo-tarsal osteolysis with or without nephropathy"	"OMIM:166300"	"Multicentric carpotarsal osteolysis syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6408"	"MAFB"	"OMIM:166300"	"multicentric carpo-tarsal osteolysis with or without nephropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-18 19:39:57"	""	""	"10444328, 22387013, 23670161, 23956186, 24989131, 29120020, 30208859, 32278749, 32359821, 34722426, 35221875"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAFB0MCTO"	"2023-11-30"
"GENCC_000106-HGNC_18957-OMIM_617609-HP_0000007-GENCC_100002"	"HGNC:18957"	"MAGI2"	"MONDO:0033262"	"nephrotic syndrome 15"	"OMIM:617609"	"Nephrotic syndrome, type 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18957"	"MAGI2"	"OMIM:617609"	"nephrotic syndrome 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-16 18:06:09"	""	""	"25108225, 25271328, 27932480, 29773874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAGI20NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_15802-OMIM_617912-HP_0000005-GENCC_100004"	"HGNC:15802"	"GATA5"	"MONDO:0060663"	"congenital heart defects, multiple types, 5"	"OMIM:617912"	"Congenital heart defects, multiple types, 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15802"	"GATA5"	"OMIM:617912"	"Congenital heart defects, multiple types, 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-19 12:32:19"	""	""	"23031282, 23289003, 27066509, 28372585"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATA50ToF"	"2023-11-30"
"GENCC_000106-HGNC_2568-OMIM_300758-HP_0001417-GENCC_100002"	"HGNC:2568"	"MAMLD1"	"MONDO:0010423"	"hypospadias 2, X-linked"	"OMIM:300758"	"Hypospadias 2, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2568"	"MAMLD1"	"OMIM:300758"	"hypospadias 2, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 22:00:07"	""	""	"182107, 183443, 22479329, 26580071, 27899157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAMLD1046,XY DSD"	"2023-11-30"
"GENCC_000106-HGNC_6823-OMIM_614202-HP_0000007-GENCC_100002"	"HGNC:6823"	"MAN1B1"	"MONDO:0013624"	"Rafiq syndrome"	"OMIM:614202"	"Rafiq syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6823"	"MAN1B1"	"OMIM:614202"	"Rafiq syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 14:42:19"	""	""	"24566669"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAN1B10ID"	"2023-11-30"
"GENCC_000106-HGNC_6836-OMIM_618918-HP_0000006-GENCC_100002"	"HGNC:6836"	"MAP1B"	"MONDO:0030061"	"periventricular nodular heterotopia 9"	"OMIM:618918"	"Periventricular nodular heterotopia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6836"	"MAP1B"	"OMIM:618918"	"Periventricular nodular heterotopia 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-06 11:55:26"	""	""	"29738522, 30150678, 31317654"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAP1B0PVNH"	"2023-11-30"
"GENCC_000106-HGNC_6840-OMIM_615279-HP_0000006-GENCC_100002"	"HGNC:6840"	"MAP2K1"	"MONDO:0014113"	"cardiofaciocutaneous syndrome 3"	"OMIM:615279"	"Cardiofaciocutaneous syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6840"	"MAP2K1"	"OMIM:615279"	"cardiofaciocutaneous syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 19:08:27"	""	""	"18042262"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAP2K10CardioFacio"	"2023-11-30"
"GENCC_000106-HGNC_6842-OMIM_615280-HP_0000006-GENCC_100002"	"HGNC:6842"	"MAP2K2"	"MONDO:0014114"	"cardiofaciocutaneous syndrome 4"	"OMIM:615280"	"Cardiofaciocutaneous syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6842"	"MAP2K2"	"OMIM:615280"	"cardiofaciocutaneous syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 17:21:51"	""	""	"18042262"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAP2K20CardioFacio"	"2023-11-30"
"GENCC_000106-HGNC_6859-OMIM_157800-HP_0000006-GENCC_100002"	"HGNC:6859"	"MAP3K7"	"MONDO:0008005"	"cardiospondylocarpofacial syndrome"	"OMIM:157800"	"Cardiospondylocarpofacial syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6859"	"MAP3K7"	"OMIM:157800"	"cardiospondylocarpofacial syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-03 14:26:22"	""	""	"20213696, 24144697, 27426734, 29467388, 34558790, 34930662, 35730652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAP3K70CSCFS"	"2023-11-30"
"GENCC_000106-HGNC_6859-OMIM_617137-HP_0000006-GENCC_100002"	"HGNC:6859"	"MAP3K7"	"MONDO:0014935"	"frontometaphyseal dysplasia 2"	"OMIM:617137"	"Frontometaphyseal dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6859"	"MAP3K7"	"OMIM:617137"	"frontometaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-24 14:15:53"	""	""	"12612583, 27426733, 28498505, 29660408, 35730652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAP3K70FMD"	"2023-11-30"
"GENCC_000106-HGNC_6323-OMIM_617921-HP_0000006-GENCC_100002"	"HGNC:6323"	"KIF5A"	"MONDO:0060670"	"amyotrophic lateral sclerosis, susceptibility to, 25"	"OMIM:617921"	"{Amyotrophic lateral sclerosis, susceptibility to, 25}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6323"	"KIF5A"	"OMIM:617921"	"{Amyotrophic lateral sclerosis, susceptibility to, 25}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-24 15:41:04"	""	""	"29342275, 29566793, 31422367"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF5A0ALS"	"2023-11-30"
"GENCC_000106-HGNC_6888-OMIM_617111-HP_0000005-GENCC_100004"	"HGNC:6888"	"MAPKAPK3"	"MONDO:0014920"	"patterned macular dystrophy 3"	"OMIM:617111"	"?Macular dystrophy, patterned, 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6888"	"MAPKAPK3"	"OMIM:617111"	"patterned macular dystrophy 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-06 12:56:58"	""	""	"26744326, 27474146"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPKAPK30MAPKAPK3rel"	"2023-11-30"
"GENCC_000106-HGNC_11274-OMIM_617948-HP_0000007-GENCC_100002"	"HGNC:11274"	"SPTB"	"MONDO:0054780"	"elliptocytosis 3"	"OMIM:617948"	"Elliptocytosis-3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11274"	"SPTB"	"OMIM:617948"	"Anemia, neonatal hemolytic, fatal or near-fatal"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:10:14"	""	""	"2070088, 32256302, 7883966, 9005995"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTB0Anemia,N"	"2023-11-30"
"GENCC_000106-HGNC_28952-OMIM_617984-HP_0000005-GENCC_100004"	"HGNC:28952"	"NCAPD3"	"MONDO:0054805"	"microcephaly 22, primary, autosomal recessive"	"OMIM:617984"	"Microcephaly 22, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28952"	"NCAPD3"	"OMIM:617984"	"Microcephaly 22, primary, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"27737959"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCAPD30Microcephaly"	"2023-11-30"
"GENCC_000106-HGNC_6891-OMIM_616734-HP_0000005-GENCC_100004"	"HGNC:6891"	"MAPRE2"	"MONDO:0014755"	"skin creases, congenital symmetric circumferential, 2"	"OMIM:616734"	"Symmetric circumferential skin creases, congenital, 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6891"	"MAPRE2"	"OMIM:616734"	"skin creases, congenital symmetric circumferential, 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-08 11:15:24"	""	""	"26637975, 31502381, 31903734"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPRE20Symmetri"	"2023-11-30"
"GENCC_000106-HGNC_6893-OMIM_172700-HP_0000006-GENCC_100002"	"HGNC:6893"	"MAPT"	"MONDO:0008243"	"Pick disease"	"OMIM:172700"	"Pick disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6893"	"MAPT"	"OMIM:172700"	"Pick disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 00:03:00"	""	""	"11906000, 11911984, 121408, 21720721, 22471883, 23043292, 23047372, 24150109, 26891767, 8789453, 8940276"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPT0FTD"	"2023-11-30"
"GENCC_000106-HGNC_6893-OMIM_168600-HP_0000005-GENCC_100004"	"HGNC:6893"	"MAPT"	"MONDO:0008199"	"late-onset Parkinson disease"	"OMIM:168600"	"{Parkinson disease, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6893"	"MAPT"	"OMIM:168600"	"late-onset Parkinson disease"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-07-16 08:15:12"	""	""	"11906000, 11911984, 14991829, 21344240, 23043292, 24150109, 30788857"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPT0Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_6893-OMIM_260540-HP_0000007-GENCC_100004"	"HGNC:6893"	"MAPT"	"MONDO:0009839"	"progressive supranuclear palsy-parkinsonism syndrome"	"OMIM:260540"	"Supranuclear palsy, progressive atypical"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6893"	"MAPT"	"OMIM:260540"	"progressive supranuclear palsy-parkinsonism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:47"	""	""	"11220749, 11906000, 11911984, 23043292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPT0SupranucPalsy"	"2023-11-30"
"GENCC_000106-HGNC_6897-OMIM_618283-HP_0000005-GENCC_100004"	"HGNC:6897"	"MARK3"	"MONDO:0032655"	"visual impairment and progressive phthisis bulbi"	"OMIM:618283"	"?Visual impairment and progressive phthisis bulbi"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6897"	"MARK3"	"OMIM:618283"	"visual impairment and progressive phthisis bulbi"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-01-21 16:07:58"	""	""	"29771303"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MARK30CVL"	"2023-11-30"
"GENCC_000106-HGNC_2088-OMIM_618015-HP_0000006-GENCC_100002"	"HGNC:2088"	"CLPX"	"MONDO:0060729"	"protoporphyria, erythropoietic, 2"	"OMIM:618015"	"?Protoporphyria, erythropoietic, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2088"	"CLPX"	"OMIM:618015"	"?Protoporphyria, erythropoietic, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:11"	""	""	"28874591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLPX0CLPXrel"	"2023-11-30"
"GENCC_000106-HGNC_28188-OMIM_618063-HP_0000007-GENCC_100002"	"HGNC:28188"	"CFAP300"	"MONDO:0054843"	"ciliary dyskinesia, primary, 38"	"OMIM:618063"	"Ciliary dyskinesia, primary, 38"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28188"	"CFAP300"	"OMIM:618063"	"Ciliary dyskinesia, primary, 38"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:10"	""	""	"101929618, 29727692, 29727693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C11orf700PCD"	"2023-11-30"
"GENCC_000106-HGNC_837-OMIM_618120-HP_0000007-GENCC_100004"	"HGNC:837"	"ATP5F1D"	"MONDO:0020858"	"mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5"	"OMIM:618120"	"Mitochondrial complex V (ATP synthase) deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:837"	"ATP5F1D"	"OMIM:618120"	"Mitochondrial complex V (ATP synthase) deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:07"	""	""	"29478781"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP5D0ATP5Drel"	"2023-11-30"
"GENCC_000106-HGNC_6898-OMIM_619692-HP_0000005-GENCC_100004"	"HGNC:6898"	"MARS1"	"MONDO:0030518"	"trichothiodystrophy 9, nonphotosensitive"	"OMIM:619692"	"?Trichothiodystrophy 9, nonphotosensitive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6898"	"MARS1"	"OMIM:619692"	"trichothiodystrophy 9, nonphotosensitive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-02-11 14:42:28"	""	""	"33909043"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MARS0NphTrich"	"2023-11-30"
"GENCC_000106-HGNC_25133-OMIM_616430-HP_0000005-GENCC_100004"	"HGNC:25133"	"MARS2"	"MONDO:0014636"	"combined oxidative phosphorylation defect type 25"	"OMIM:616430"	"?Combined oxidative phosphorylation deficiency 25"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25133"	"MARS2"	"OMIM:616430"	"combined oxidative phosphorylation defect type 25"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"25754315"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MARS20OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_25133-OMIM_611390-HP_0000007-GENCC_100004"	"HGNC:25133"	"MARS2"	"MONDO:0012664"	"spastic ataxia 3"	"OMIM:611390"	"Spastic ataxia 3, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25133"	"MARS2"	"OMIM:611390"	"spastic ataxia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:00"	""	""	"22448145"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MARS20SCAR"	"2023-11-30"
"GENCC_000106-HGNC_6901-OMIM_257920-HP_0000007-GENCC_100002"	"HGNC:6901"	"MASP1"	"MONDO:0009770"	"3MC syndrome 1"	"OMIM:257920"	"3MC syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6901"	"MASP1"	"OMIM:257920"	"3MC syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-28 18:53:06"	""	""	"21035106, 21258343, 26419238, 26789649"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MASP103MC"	"2023-11-30"
"GENCC_000106-HGNC_19034-OMIM_618273-HP_0000006-GENCC_100002"	"HGNC:19034"	"MAST1"	"MONDO:0032648"	"mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"	"OMIM:618273"	"Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19034"	"MAST1"	"OMIM:618273"	"mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-03 21:19:44"	""	""	"30449657, 32198973, 37758169"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAST10MCC-CH-CM"	"2023-11-30"
"GENCC_000106-HGNC_4317-OMIM_618123-HP_0000005-GENCC_100004"	"HGNC:4317"	"GLI1"	"MONDO:0029130"	"polydactyly, postaxial, type A8"	"OMIM:618123"	"Polydactyly, postaxial, type A8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4317"	"GLI1"	"OMIM:618123"	"Polydactyly, postaxial, type A8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-03 17:21:18"	""	""	"31549748"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GLI10Polydactyly"	"2023-11-30"
"GENCC_000106-HGNC_6903-OMIM_250850-HP_0000007-GENCC_100002"	"HGNC:6903"	"MAT1A"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"OMIM:250850"	"Methionine adenosyltransferase deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6903"	"MAT1A"	"OMIM:250850"	"methionine adenosyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:26"	""	""	"20675163, 23993429, 24231718"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAT1A0Hypermethion"	"2023-11-30"
"GENCC_000106-HGNC_6903-OMIM_250850-HP_0000006-GENCC_100002"	"HGNC:6903"	"MAT1A"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"OMIM:250850"	"Methionine adenosyltransferase deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6903"	"MAT1A"	"OMIM:250850"	"methionine adenosyltransferase deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:26"	""	""	"11278456, 20675163, 23425511, 26933843, 28748147, 9042912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAT1A0MAT1Ahypermeth03"	"2023-11-30"
"GENCC_000106-HGNC_6909-OMIM_607078-HP_0000006-GENCC_100002"	"HGNC:6909"	"MATN3"	"MONDO:0011765"	"multiple epiphyseal dysplasia type 5"	"OMIM:607078"	"Epiphyseal dysplasia, multiple, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6909"	"MATN3"	"OMIM:607078"	"multiple epiphyseal dysplasia type 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-08-17 13:26:03"	""	""	"11479579, 11479597, 11968079, 14729835, 14749384, 16199550, 16287128, 17517694, 20428984, 25196597"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MATN30EpiphysDys"	"2023-11-30"
"GENCC_000106-HGNC_6909-OMIM_608728-HP_0000005-GENCC_100004"	"HGNC:6909"	"MATN3"	"MONDO:0012108"	"spondyloepimetaphyseal dysplasia, matrilin-3 type"	"OMIM:608728"	"Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6909"	"MATN3"	"OMIM:608728"	"Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-06-02 15:05:19"	""	""	"14749384, 15121775, 16199550, 32470407"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MATN30SEMDys"	"2023-11-30"
"GENCC_000106-HGNC_6912-OMIM_606070-HP_0000006-GENCC_100002"	"HGNC:6912"	"MATR3"	"MONDO:0011632"	"amyotrophic lateral sclerosis type 21"	"OMIM:606070"	"Amyotrophic lateral sclerosis 21"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6912"	"MATR3"	"OMIM:606070"	"amyotrophic lateral sclerosis type 21"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-07 11:45:31"	""	""	"24686783, 25154462, 25771394, 26493020, 28029397"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MATR30ALS"	"2023-11-30"
"GENCC_000106-HGNC_6913-OMIM_171300-HP_0000006-GENCC_100002"	"HGNC:6913"	"MAX"	"MONDO:0008233"	"pheochromocytoma"	"OMIM:171300"	"{Pheochromocytoma, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6913"	"MAX"	"OMIM:171300"	"pheochromocytoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-18 20:32:08"	""	""	"20301715, 21685915, 22452945, 24893135, 24899893, 26070438, 26347711, 26670126, 27838885, 28384794, 28973655, 30877234, 31666924, 32201880, 32508744, 32973681, 33362715, 33367756, 33815275, 34135865"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAX0PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_694-OMIM_618161-HP_0000007-GENCC_100002"	"HGNC:694"	"ARL3"	"MONDO:0032570"	"Joubert syndrome 35"	"OMIM:618161"	"Joubert syndrome 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:694"	"ARL3"	"OMIM:618161"	"Joubert syndrome 35"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:12"	""	""	"1.61436E+15, 30269812"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARL30Joubert"	"2023-11-30"
"GENCC_000106-HGNC_29165-OMIM_618162-HP_0000005-GENCC_100004"	"HGNC:29165"	"SIK3"	"MONDO:0032571"	"spondyloepimetaphyseal dysplasia, Krakow type"	"OMIM:618162"	"?Spondyloepimetaphyseal dysplasia, Krakow type"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29165"	"SIK3"	"OMIM:618162"	"?Spondyloepimetaphyseal dysplasia, Krakow type"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"30232230"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIK30SEMDys"	"2023-11-30"
"GENCC_000106-HGNC_20444-OMIM_156200-HP_0000006-GENCC_100002"	"HGNC:20444"	"MBD5"	"MONDO:0007974"	"intellectual disability, autosomal dominant 1"	"OMIM:156200"	"Intellectual developmental disorder, autosomal dominant 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20444"	"MBD5"	"OMIM:156200"	"Intellectual developmental disorder, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 20:42:35"	""	""	"23422940, 23587880"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MBD50MRD"	"2023-11-30"
"GENCC_000106-HGNC_15456-OMIM_618392-HP_0000007-GENCC_100002"	"HGNC:15456"	"MBTPS1"	"MONDO:0032721"	"spondyloepiphyseal dysplasia, kondo-fu type"	"OMIM:618392"	"?Spondyloepiphyseal dysplasia, Kondo-Fu type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15456"	"MBTPS1"	"OMIM:618392"	"spondyloepiphyseal dysplasia, kondo-fu type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-09 14:56:05"	""	""	"30046013, 32420688, 32857899"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MBTPS10S1P deficiency"	"2023-11-30"
"GENCC_000106-HGNC_15455-OMIM_308205-HP_0001417-GENCC_100002"	"HGNC:15455"	"MBTPS2"	"MONDO:0100213"	"IFAP syndrome 1, with or without BRESHECK syndrome"	"OMIM:308205"	"IFAP syndrome with or without BRESHECK syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:15455"	"MBTPS2"	"OMIM:308205"	"IFAP syndrome with or without BRESHECK syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-01 20:37:18"	""	""	"19361614, 21179107, 22105905, 23316014, 27380894, 31646662"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MBTPS20IfapSynd"	"2023-11-30"
"GENCC_000106-HGNC_15455-OMIM_301014-HP_0001417-GENCC_100002"	"HGNC:15455"	"MBTPS2"	"MONDO:0049223"	"osteogenesis imperfecta, type 19"	"OMIM:301014"	"Osteogenesis imperfecta, type XIX"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:15455"	"MBTPS2"	"OMIM:301014"	"osteogenesis imperfecta, type 19"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:00"	""	""	"27380894"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MBTPS20OI"	"2023-11-30"
"GENCC_000106-HGNC_1184-OMIM_618221-HP_0000007-GENCC_100002"	"HGNC:1184"	"FERRY3"	"MONDO:0032605"	"intellectual disability, autosomal recessive 66"	"OMIM:618221"	"Intellectual developmental disorder, autosomal recessive 66"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1184"	"C12orf4"	"OMIM:618221"	"Intellectual developmental disorder, autosomal recessive 66"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-02 09:57:28"	""	""	"25558065, 27311568, 28097321"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C12orf40ID"	"2023-11-30"
"GENCC_000106-HGNC_7710-OMIM_618230-HP_0000007-GENCC_100002"	"HGNC:7710"	"NDUFS3"	"MONDO:0032613"	"mitochondrial complex 1 deficiency, nuclear type 8"	"OMIM:618230"	"Mitochondrial complex I deficiency, nuclear type 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7710"	"NDUFS3"	"OMIM:618230"	"Mitochondrial complex I deficiency, nuclear type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-11 12:13:32"	""	""	"14729820, 19167255, 22499248, 24028823, 30140060"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFS30MC1def"	"2023-11-30"
"GENCC_000106-HGNC_24856-OMIM_618268-HP_0000007-GENCC_100002"	"HGNC:24856"	"CCDC47"	"MONDO:0032645"	"trichohepatoneurodevelopmental syndrome"	"OMIM:618268"	"Trichohepatoneurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24856"	"CCDC47"	"OMIM:618268"	"Trichohepatoneurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"30401460"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC470Wool0Liv0GDD"	"2023-11-30"
"GENCC_000106-HGNC_17098-OMIM_618272-HP_0000005-GENCC_100004"	"HGNC:17098"	"DICER1"	"MONDO:0018445"	"global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome"	"OMIM:618272"	"GLOW syndrome, somatic mosaic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17098"	"DICER1"	"OMIM:618272"	"GLOW syndrome, somatic mosaic"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:22"	""	""	"24676357, 33208384"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DICER10GLOW"	"2023-11-30"
"GENCC_000106-HGNC_7437-OMIM_618367-HP_0000007-GENCC_100002"	"HGNC:7437"	"MTHFS"	"MONDO:0032705"	"neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination"	"OMIM:618367"	"Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7437"	"MTHFS"	"OMIM:618367"	"Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-28 10:14:30"	""	""	"30031689, 31844630"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTHFS0MTHF5def"	"2023-11-30"
"GENCC_000106-HGNC_6944-OMIM_616968-HP_0000006-GENCC_100002"	"HGNC:6944"	"MCM2"	"MONDO:0014853"	"autosomal dominant nonsyndromic hearing loss 70"	"OMIM:616968"	"?Deafness, autosomal dominant 70"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6944"	"MCM2"	"OMIM:616968"	"autosomal dominant nonsyndromic hearing loss 70"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-17 12:59:42"	""	""	"26196677, 33229591, 35652205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCM20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_6946-OMIM_618124-HP_0000007-GENCC_100002"	"HGNC:6946"	"MCM3AP"	"MONDO:0029131"	"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"OMIM:618124"	"Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6946"	"MCM3AP"	"OMIM:618124"	"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-11 12:14:12"	""	""	"2412376, 26615982, 28633435"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCM3AP0CMT"	"2023-11-30"
"GENCC_000106-HGNC_6947-OMIM_609981-HP_0000007-GENCC_100002"	"HGNC:6947"	"MCM4"	"MONDO:0012383"	"primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"	"OMIM:609981"	"Immunodeficiency 54"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6947"	"MCM4"	"OMIM:609981"	"Immunodeficiency 54"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"17143284, 22354167, 22354170, 22499342"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCM40MCM4def"	"2023-11-30"
"GENCC_000106-HGNC_9863-OMIM_618388-HP_0000007-GENCC_100002"	"HGNC:9863"	"RAPSN"	"MONDO:0100102"	"fetal akinesia deformation sequence 2"	"OMIM:618388"	"Fetal akinesia deformation sequence 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9863"	"RAPSN"	"OMIM:618388"	"Fetal akinesia deformation sequence 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-21 08:08:21"	""	""	"18179903, 18252226, 30293990"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAPSN0FADS"	"2023-11-30"
"GENCC_000106-HGNC_21484-OMIM_616185-HP_0000007-GENCC_100002"	"HGNC:21484"	"MCM9"	"MONDO:0014520"	"46,XX ovarian dysgenesis-short stature syndrome"	"OMIM:616185"	"Ovarian dysgenesis 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21484"	"MCM9"	"OMIM:616185"	"46,XX ovarian dysgenesis-short stature syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-15 18:29:22"	""	""	"150126, 22771120, 246902, 251100, 251448, 25480036, 26771056, 26806154, 27802094, 31042289"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCM90OvarianD"	"2023-11-30"
"GENCC_000106-HGNC_6954-OMIM_251200-HP_0000007-GENCC_100002"	"HGNC:6954"	"MCPH1"	"MONDO:0009617"	"microcephaly 1, primary, autosomal recessive"	"OMIM:251200"	"Microcephaly 1, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6954"	"MCPH1"	"OMIM:251200"	"microcephaly 1, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 13:03:14"	""	""	"20978018"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCPH10Seckel"	"2023-11-30"
"GENCC_000106-HGNC_28870-OMIM_620014-HP_0000007-GENCC_100002"	"HGNC:28870"	"MDFIC"	"MONDO:0031043"	"lymphatic malformation 12"	"OMIM:620014"	"Lymphatic malformation 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28870"	"MDFIC"	"OMIM:620014"	"lymphatic malformation 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 14:20:23"	""	""	"35235341"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MDFIC0CCLA"	"2023-11-30"
"GENCC_000106-HGNC_6970-OMIM_618959-HP_0000005-GENCC_100004"	"HGNC:6970"	"MDH1"	"MONDO:0030072"	"developmental and epileptic encephalopathy, 88"	"OMIM:618959"	"?Developmental and epileptic encephalopathy 88"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6970"	"MDH1"	"OMIM:618959"	"developmental and epileptic encephalopathy, 88"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-07 06:52:23"	""	""	"28191890, 31538237"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MDH10MDH1rel"	"2023-11-30"
"GENCC_000106-HGNC_6971-OMIM_617339-HP_0000007-GENCC_100002"	"HGNC:6971"	"MDH2"	"MONDO:0015025"	"developmental and epileptic encephalopathy, 51"	"OMIM:617339"	"Developmental and epileptic encephalopathy 51"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6971"	"MDH2"	"OMIM:617339"	"developmental and epileptic encephalopathy, 51"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-03 09:08:55"	""	""	"27989324"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MDH20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_6974-OMIM_618849-HP_0000006-GENCC_100004"	"HGNC:6974"	"MDM4"	"MONDO:0030015"	"bone marrow failure syndrome 6"	"OMIM:618849"	"?Bone marrow failure syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6974"	"MDM4"	"OMIM:618849"	"?Bone marrow failure syndrome 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-24 12:12:35"	""	""	"22180099, 25996639, 29146883, 32098966, 32300648"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MDM40MDM4rel"	"2023-11-30"
"GENCC_000106-HGNC_3498-OMIM_616738-HP_0000006-GENCC_100002"	"HGNC:3498"	"MECOM"	"MONDO:0014758"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 2"	"OMIM:616738"	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3498"	"MECOM"	"OMIM:616738"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-11 13:37:06"	""	""	"26581901, 29540340"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MECOM0MECOMrel"	"2023-11-30"
"GENCC_000106-HGNC_6990-OMIM_312750-HP_0001417-GENCC_100002"	"HGNC:6990"	"MECP2"	"MONDO:0010726"	"Rett syndrome"	"OMIM:312750"	"Rett syndrome, preserved speech variant"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:6990"	"MECP2"	"OMIM:312750"	"Rett syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 07:06:22"	""	""	"11007980, 11462237, 11896461, 12180070, 16155192, 17101000, 17968969, 22213695, 23810759, 25914188, 34469436"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MECP20MECP2related02"	"2023-11-30"
"GENCC_000106-HGNC_17485-OMIM_618420-HP_0000006-GENCC_100004"	"HGNC:17485"	"PPP2R3C"	"MONDO:0032739"	"spermatogenic failure 36"	"OMIM:618420"	"Spermatogenic failure 36"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17485"	"PPP2R3C"	"OMIM:618420"	"Spermatogenic failure 36"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:22"	""	""	"30893644"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP2R3C0MaleInfertility"	"2023-11-30"
"GENCC_000106-HGNC_11957-OMIM_309520-HP_0001417-GENCC_100002"	"HGNC:11957"	"MED12"	"MONDO:0010655"	"X-linked intellectual disability with marfanoid habitus"	"OMIM:309520"	"Lujan-Fryns syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11957"	"MED12"	"OMIM:309520"	"X-linked intellectual disability with marfanoid habitus"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-27 06:31:17"	""	""	"17369503, 23091001, 23506379, 27980443, 28369444"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED120LFS"	"2023-11-30"
"GENCC_000106-HGNC_11957-OMIM_305450-HP_0001417-GENCC_100002"	"HGNC:11957"	"MED12"	"MONDO:0010590"	"FG syndrome 1"	"OMIM:305450"	"Opitz-Kaveggia syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11957"	"MED12"	"OMIM:305450"	"FG syndrome 1"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-27 06:27:27"	""	""	"16691600, 17334363, 19938245, 20507344, 23091001"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED120OKS"	"2023-11-30"
"GENCC_000106-HGNC_16050-OMIM_618872-HP_0000006-GENCC_100002"	"HGNC:16050"	"MED12L"	"MONDO:0030030"	"Nizon-Isidor syndrome"	"OMIM:618872"	"Nizon-Isidor syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16050"	"MED12L"	"OMIM:618872"	"Nizon-Isidor syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-08 14:14:37"	""	""	"26468330, 31155615"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED12L0MED12Lrel"	"2023-11-30"
"GENCC_000106-HGNC_22474-OMIM_618009-HP_0000006-GENCC_100002"	"HGNC:22474"	"MED13"	"MONDO:0032485"	"intellectual developmental disorder 61"	"OMIM:618009"	"Intellectual developmental disorder, autosomal dominant 61"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:22474"	"MED13"	"OMIM:618009"	"intellectual developmental disorder 61"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:40:57"	""	""	"29740699"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED130ID/DD"	"2023-11-30"
"GENCC_000106-HGNC_28613-OMIM_618431-HP_0000007-GENCC_100002"	"HGNC:28613"	"MEI1"	"MONDO:0032746"	"hydatidiform mole, recurrent, 3"	"OMIM:618431"	"Hydatidiform mole, recurrent, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28613"	"MEI1"	"OMIM:618431"	"Hydatidiform mole, recurrent, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-01 08:39:00"	""	""	"30388401"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MEI10HYDM1"	"2023-11-30"
"GENCC_000106-HGNC_26197-OMIM_618432-HP_0000007-GENCC_100004"	"HGNC:26197"	"TOP6BL"	"MONDO:0032747"	"hydatidiform mole, recurrent, 4"	"OMIM:618432"	"Hydatidiform mole, recurrent, 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26197"	"TOP6BL"	"OMIM:618432"	"Hydatidiform mole, recurrent, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-06-03 14:12:49"	""	""	"26917764, 30388401"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C11orf800Hydatidi"	"2023-11-30"
"GENCC_000106-HGNC_2372-OMIM_614249-HP_0000007-GENCC_100002"	"HGNC:2372"	"MED23"	"MONDO:0013651"	"intellectual disability, autosomal recessive 18"	"OMIM:614249"	"Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2372"	"MED23"	"OMIM:614249"	"intellectual disability, autosomal recessive 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:52"	""	""	"21868677, 25845469, 27311965, 27457812, 30847200"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED230ID"	"2023-11-30"
"GENCC_000106-HGNC_17433-OMIM_618438-HP_0000005-GENCC_100004"	"HGNC:17433"	"CHP1"	"MONDO:0032753"	"spastic ataxia 9, autosomal recessive"	"OMIM:618438"	"?Spastic ataxia 9, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17433"	"CHP1"	"OMIM:618438"	"?Spastic ataxia 9, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"29379881"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHP10SCAR"	"2023-11-30"
"GENCC_000106-HGNC_28845-OMIM_616449-HP_0000007-GENCC_100002"	"HGNC:28845"	"MED25"	"MONDO:0014643"	"congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome"	"OMIM:616449"	"Basel-Vanagait-Smirin-Yosef syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28845"	"MED25"	"OMIM:616449"	"congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-04 14:16:11"	""	""	"25527630, 25792360, 28170084, 30800049, 31602195"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED250MED25rel"	"2023-11-30"
"GENCC_000106-HGNC_681-OMIM_618459-HP_0000005-GENCC_100004"	"HGNC:681"	"ARHGEF1"	"MONDO:0032763"	"immunodeficiency 62"	"OMIM:618459"	"?Immunodeficiency 62"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:681"	"ARHGEF1"	"OMIM:618459"	"?Immunodeficiency 62"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-06-14 10:55:43"	""	""	"25984793, 29130930, 30521495"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARHGEF10ARHGEF1rel"	"2023-11-30"
"GENCC_000106-HGNC_600-OMIM_618463-HP_0000007-GENCC_100002"	"HGNC:600"	"APOA1"	"MONDO:0032766"	"hypoalphalipoproteinemia, primary, 2"	"OMIM:618463"	"Hypoalphalipoproteinemia, primary, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:600"	"APOA1"	"OMIM:618463"	"Hypoalphalipoproteinemia, primary, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-22 14:47:04"	""	""	"24950002, 7583566, 7981179, 8282791"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOA10ApoLipoA1Def"	"2023-11-30"
"GENCC_000106-HGNC_10981-OMIM_618464-HP_0000005-GENCC_100004"	"HGNC:10981"	"SLC25A11"	"MONDO:0032767"	"paragangliomas 6"	"OMIM:618464"	"Pheochromocytoma/paraganglioma syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10981"	"SLC25A11"	"OMIM:618464"	"Pheochromocytoma/paraganglioma syndrome 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:22"	""	""	"29431636"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A110PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_9878-OMIM_618534-HP_0000007-GENCC_100002"	"HGNC:9878"	"RASGRP1"	"MONDO:0032803"	"immunodeficiency 64"	"OMIM:618534"	"Immunodeficiency 64"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9878"	"RASGRP1"	"OMIM:618534"	"Immunodeficiency 64"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:24"	""	""	"11017103, 27776107, 28822832, 29155103, 29282224, 30030704"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RASGRP10EBVlymph"	"2023-11-30"
"GENCC_000106-HGNC_5987-OMIM_618549-HP_0000005-GENCC_100004"	"HGNC:5987"	"IL18BP"	"MONDO:0032809"	"hepatitis, fulminant viral, susceptibility to"	"OMIM:618549"	"{?Hepatitis, fulminant viral, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5987"	"IL18BP"	"OMIM:618549"	"{?Hepatitis, fulminant viral, susceptibility to} "	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:14"	""	""	"31213488"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IL18BP0IL18BPdef"	"2023-11-30"
"GENCC_000106-HGNC_7027-OMIM_613862-HP_0000007-GENCC_100002"	"HGNC:7027"	"MERTK"	"MONDO:0013469"	"retinitis pigmentosa 38"	"OMIM:613862"	"Retinitis pigmentosa 38"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7027"	"MERTK"	"OMIM:613862"	"retinitis pigmentosa 38"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 21:06:51"	""	""	"11592982, 16714263, 17301963, 19956407, 20300561, 24265693, 26263531, 29659094, 613862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MERTK0RP"	"2023-11-30"
"GENCC_000106-HGNC_4689-OMIM_618555-HP_0000007-GENCC_100002"	"HGNC:4689"	"GUCY2D"	"MONDO:0032811"	"night blindness, congenital stationary, type1i"	"OMIM:618555"	"Night blindness, congenital stationary, type 1I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4689"	"GUCY2D"	"OMIM:618555"	"Night blindness, congenital stationary, type 1I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-20 20:31:59"	""	""	"29559409"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GUCY2D0NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_7029-OMIM_620019-HP_0000005-GENCC_100004"	"HGNC:7029"	"MET"	"MONDO:0031045"	"arthrogryposis, distal, IIa 11"	"OMIM:620019"	"?Arthrogryposis, distal, type 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7029"	"MET"	"OMIM:620019"	"arthrogryposis, distal, IIa 11"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-29 14:19:32"	""	""	"30777867"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MET0ArthrogrypUL"	"2023-11-30"
"GENCC_000106-HGNC_7029-OMIM_616705-HP_0000007-GENCC_100002"	"HGNC:7029"	"MET"	"MONDO:0014739"	"autosomal recessive nonsyndromic hearing loss 97"	"OMIM:616705"	"?Deafness, autosomal recessive 97"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7029"	"MET"	"OMIM:616705"	"autosomal recessive nonsyndromic hearing loss 97"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"25941349, 31801140"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MET0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_7029-OMIM_605074-HP_0000006-GENCC_100002"	"HGNC:7029"	"MET"	"MONDO:0003789"	"hereditary papillary renal cell carcinoma"	"OMIM:605074"	"Renal cell carcinoma, papillary, 1, familial and somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7029"	"MET"	"OMIM:605074"	"hereditary papillary renal cell carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-05 19:21:19"	""	""	"10327054, 15371818, 15772665, 26389510, 31326218, 8662889, 9140397, 9326629, 9563489"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MET0HPRCC"	"2023-11-30"
"GENCC_000106-HGNC_26988-OMIM_615942-HP_0000007-GENCC_100002"	"HGNC:26988"	"METTL23"	"MONDO:0014409"	"intellectual disability, autosomal recessive 44"	"OMIM:615942"	"Intellectual developmental disorder, autosomal recessive 44"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26988"	"METTL23"	"OMIM:615942"	"intellectual disability, autosomal recessive 44"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-04 18:05:35"	""	""	"24501276, 24626631"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"METTL230ID"	"2023-11-30"
"GENCC_000106-HGNC_29673-OMIM_616166-HP_0000006-GENCC_100002"	"HGNC:29673"	"MFAP5"	"MONDO:0014514"	"aortic aneurysm, familial thoracic 9"	"OMIM:616166"	"Aortic aneurysm, familial thoracic 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29673"	"MFAP5"	"OMIM:616166"	"aortic aneurysm, familial thoracic 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:27"	""	""	"23963447, 251418, 25434006, 26854089, 282646"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MFAP50TAAD"	"2023-11-30"
"GENCC_000106-HGNC_16877-OMIM_609260-HP_0000006-GENCC_100002"	"HGNC:16877"	"MFN2"	"MONDO:0012231"	"Charcot-Marie-Tooth disease type 2A2"	"OMIM:609260"	"Charcot-Marie-Tooth disease, axonal, type 2A2A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16877"	"MFN2"	"OMIM:609260"	"Charcot-Marie-Tooth disease, axonal, type 2A2A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-21 21:15:10"	""	""	"16043786, 16087932, 16835246, 17215403, 21508331, 23781337"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MFN20CMT"	"2023-11-30"
"GENCC_000106-HGNC_16877-OMIM_617087-HP_0000007-GENCC_100002"	"HGNC:16877"	"MFN2"	"MONDO:0014906"	"Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;"	"OMIM:617087"	"Charcot-Marie-Tooth disease, axonal, type 2A2B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16877"	"MFN2"	"OMIM:617087"	"Charcot-Marie-Tooth disease, axonal, type 2A2B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"16714318, 21715711, 26955893"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MFN20CMT02"	"2023-11-30"
"GENCC_000106-HGNC_18121-OMIM_611040-HP_0000007-GENCC_100002"	"HGNC:18121"	"MFRP"	"MONDO:0012605"	"isolated microphthalmia 5"	"OMIM:611040"	"Microphthalmia, isolated 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18121"	"MFRP"	"OMIM:611040"	"isolated microphthalmia 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-25 12:29:47"	""	""	"12140190, 1258954, 15976030, 17167404, 18554571, 19753314, 20361016, 22605927"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MFRP0Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_28486-OMIM_610951-HP_0000007-GENCC_100002"	"HGNC:28486"	"MFSD8"	"MONDO:0012588"	"neuronal ceroid lipofuscinosis 7"	"OMIM:610951"	"Ceroid lipofuscinosis, neuronal, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28486"	"MFSD8"	"OMIM:610951"	"neuronal ceroid lipofuscinosis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-29 20:39:26"	""	""	"19177532"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MFSD80CLN"	"2023-11-30"
"GENCC_000106-HGNC_28486-OMIM_616170-HP_0000007-GENCC_100002"	"HGNC:28486"	"MFSD8"	"MONDO:0014515"	"macular dystrophy with central cone involvement"	"OMIM:616170"	"Macular dystrophy with central cone involvement"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28486"	"MFSD8"	"OMIM:616170"	"Macular dystrophy with central cone involvement"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-29 17:04:50"	""	""	"25227500, 28041642, 28586915"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MFSD80RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_7045-OMIM_212066-HP_0000007-GENCC_100002"	"HGNC:7045"	"MGAT2"	"MONDO:0008908"	"MGAT2-congenital disorder of glycosylation"	"OMIM:212066"	"Congenital disorder of glycosylation, type IIa"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7045"	"MGAT2"	"OMIM:212066"	"MGAT2-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-19 14:46:49"	""	""	"11228641, 22105986, 33044030, 33960646, 8808595"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MGAT20MGAT2CDG"	"2023-11-30"
"GENCC_000106-HGNC_24008-OMIM_619269-HP_0000007-GENCC_100002"	"HGNC:24008"	"MIA3"	"MONDO:0031010"	"odontochondrodysplasia 2 with hearing loss and diabetes"	"OMIM:619269"	"?Ondontochondrodysplasia 2 with hearing loss and diabetes"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24008"	"MIA3"	"OMIM:619269"	"?Ondontochondrodysplasia 2 with hearing loss and diabetes"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-22 19:32:25"	""	""	"16011615, 21606205, 29673405, 31552105, 32101163, 33778321"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIA30MIA3rel"	"2023-11-30"
"GENCC_000106-HGNC_14188-OMIM_618594-HP_0000005-GENCC_100004"	"HGNC:14188"	"AVIL"	"MONDO:0032826"	"nephrotic syndrome, type 21"	"OMIM:618594"	"Nephrotic syndrome, type 21"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14188"	"AVIL"	"OMIM:618594"	"Nephrotic syndrome, type 21"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-27 08:17:27"	""	""	"29058690"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AVIL0AVILrel"	"2023-11-30"
"GENCC_000106-HGNC_13520-OMIM_618644-HP_0000007-GENCC_100002"	"HGNC:13520"	"MESD"	"MONDO:0032846"	"osteogenesis imperfecta, type 20"	"OMIM:618644"	"Osteogenesis imperfecta, type XX"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13520"	"MESD"	"OMIM:618644"	"Osteogenesis imperfecta, type XX"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:04"	""	""	"31564437"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MESDC20OI"	"2023-11-30"
"GENCC_000106-HGNC_6131-OMIM_618648-HP_0000005-GENCC_100004"	"HGNC:6131"	"IRF9"	"MONDO:0032848"	"immunodeficiency 65, susceptibility to viral infections"	"OMIM:618648"	"Immunodeficiency 65, susceptibility to viral infections"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6131"	"IRF9"	"OMIM:618648"	"Immunodeficiency 65, susceptibility to viral infections"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-25 15:42:34"	""	""	"30143481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IRF90IRF9 deficiency"	"2023-11-30"
"GENCC_000106-HGNC_2747-OMIM_618653-HP_0000006-GENCC_100002"	"HGNC:2747"	"DDX6"	"MONDO:0032851"	"intellectual developmental disorder with impaired language and dysmorphic facies"	"OMIM:618653"	"Intellectual developmental disorder with impaired language and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2747"	"DDX6"	"OMIM:618653"	"Intellectual developmental disorder with impaired language and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-15 12:07:22"	""	""	"31422817"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDX60DDX6rel"	"2023-11-30"
"GENCC_000106-HGNC_23564-OMIM_614326-HP_0000005-GENCC_100004"	"HGNC:23564"	"MIR17HG"	"MONDO:0013691"	"Feingold syndrome type 2"	"OMIM:614326"	"Feingold syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23564"	"MIR17HG"	"OMIM:614326"	"Feingold syndrome type 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"21892160, 23448905, 23495052, 23792790, 24503149, 24739087, 25391829, 26360630, 28159702, 29636449"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIR17HG0Feingold"	"2023-11-30"
"GENCC_000106-HGNC_6973-OMIM_618681-HP_0000005-GENCC_100004"	"HGNC:6973"	"MDM2"	"MONDO:0032868"	"lessel-kubisch syndrome"	"OMIM:618681"	"?Lessel-Kubisch syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6973"	"MDM2"	"OMIM:618681"	"?Lessel-Kubisch syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:14"	""	""	"28846075"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MDM20MDM2rel"	"2023-11-30"
"GENCC_000106-HGNC_7105-OMIM_617306-HP_0000007-GENCC_100002"	"HGNC:7105"	"MITF"	"MONDO:0015014"	"coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"	"OMIM:617306"	"COMMAD syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7105"	"MITF"	"OMIM:617306"	"coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"27889061, 30549420, 32728090"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MITF0COMMAD"	"2023-11-30"
"GENCC_000106-HGNC_7105-OMIM_614456-HP_0000006-GENCC_100002"	"HGNC:7105"	"MITF"	"MONDO:0013759"	"melanoma, cutaneous malignant, susceptibility to, 8"	"OMIM:614456"	"{Melanoma, cutaneous malignant, susceptibility to, 8}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7105"	"MITF"	"OMIM:614456"	"melanoma, cutaneous malignant, susceptibility to, 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-06 12:09:40"	""	""	"22012259, 22080950, 23167872, 25803691, 28263292, 33051548"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MITF0FamMelanoma"	"2023-11-30"
"GENCC_000106-HGNC_7105-OMIM_193510-HP_0000006-GENCC_100002"	"HGNC:7105"	"MITF"	"MONDO:0008671"	"Waardenburg syndrome type 2A"	"OMIM:193510"	"Waardenburg syndrome, type 2A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7105"	"MITF"	"OMIM:193510"	"Waardenburg syndrome type 2A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-08 10:05:00"	""	""	"20127975, 20478267, 23512835, 8659547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MITF0WS2A"	"2023-11-30"
"GENCC_000106-HGNC_7108-OMIM_605231-HP_0000007-GENCC_100002"	"HGNC:7108"	"MKKS"	"MONDO:0011523"	"Bardet-Biedl syndrome 6"	"OMIM:605231"	"Bardet-Biedl syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7108"	"MKKS"	"OMIM:605231"	"Bardet-Biedl syndrome 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-07 14:42:39"	""	""	"9765625, 10973238, 10973251, 11179009, 18094050, 250716, 251096, 251140, 26900326, 26968886, 27491411, 282866, 282890, 28624958, 28761321, 30614526, 30901771"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MKKS0BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_7108-OMIM_236700-HP_0000007-GENCC_100002"	"HGNC:7108"	"MKKS"	"MONDO:0009367"	"McKusick-Kaufman syndrome"	"OMIM:236700"	"McKusick-Kaufman syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7108"	"MKKS"	"OMIM:236700"	"McKusick-Kaufman syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"10802661, 251330, 282442, 282446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MKKS0MKKS"	"2023-11-30"
"GENCC_000106-HGNC_1081-OMIM_618723-HP_0000005-GENCC_100004"	"HGNC:1081"	"BNC1"	"MONDO:0032881"	"premature ovarian failure 16"	"OMIM:618723"	"?Premature ovarian failure 16"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1081"	"BNC1"	"OMIM:618723"	"?Premature ovarian failure 16"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-01-20 09:50:46"	""	""	"23054247, 27301361, 30010909, 30689869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BNC10BNC1rel"	"2023-11-30"
"GENCC_000106-HGNC_7121-OMIM_615990-HP_0000005-GENCC_100004"	"HGNC:7121"	"MKS1"	"MONDO:0014441"	"Bardet-Biedl syndrome 13"	"OMIM:615990"	"Bardet-Biedl syndrome 13"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7121"	"MKS1"	"OMIM:615990"	"Bardet-Biedl syndrome 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:55"	""	""	"18327255, 22353939, 24608809, 29620724"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MKS10BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_11301-OMIM_618752-HP_0000006-GENCC_100002"	"HGNC:11301"	"SRP54"	"MONDO:0032899"	"neutropenia, severe congenital, 8, autosomal dominant"	"OMIM:618752"	"Neutropenia, severe congenital, 8, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11301"	"SRP54"	"OMIM:618752"	"Neutropenia, severe congenital, 8, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-11 13:52:21"	""	""	"28972538, 29914977, 29956078, 33839879, 34549814"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRP540SDS"	"2023-11-30"
"GENCC_000106-HGNC_12765-OMIM_618806-HP_0000006-GENCC_100002"	"HGNC:12765"	"FOXN1"	"MONDO:0032928"	"T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"	"OMIM:618806"	"T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12765"	"FOXN1"	"OMIM:618806"	"T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:12:12"	""	""	"15180707, 15897400, 31447097"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FOXN10FOXN1haplo"	"2023-11-30"
"GENCC_000106-HGNC_17082-OMIM_604004-HP_0000007-GENCC_100002"	"HGNC:17082"	"MLC1"	"MONDO:0024555"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"OMIM:604004"	"Megalencephalic leukoencephalopathy with subcortical cysts 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17082"	"MLC1"	"OMIM:604004"	"megalencephalic leukoencephalopathy with subcortical cysts 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-02 14:28:50"	""	""	"11254442, 12939431, 16470554, 16652334, 20301707, 24824219"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MLC10MLSC"	"2023-11-30"
"GENCC_000106-HGNC_7127-OMIM_276300-HP_0000007-GENCC_100002"	"HGNC:7127"	"MLH1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"OMIM:276300"	"Mismatch repair cancer syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7127"	"MLH1"	"OMIM:276300"	"mismatch repair cancer syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-08 08:39:19"	""	""	"15713769, 24362816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MLH10CMMRD"	"2023-11-30"
"GENCC_000106-HGNC_7127-OMIM_120435-HP_0000006-GENCC_100002"	"HGNC:7127"	"MLH1"	"MONDO:0007356"	"Lynch syndrome 1"	"OMIM:120435"	"Lynch syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7127"	"MLH1"	"OMIM:120435"	"Lynch syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 22:11:28"	""	""	"10498885, 120436, 12637487, 15713769, 15772852, 16083711, 17510385, 18398828, 18554281, 19215248, 19900449, 20301390, 21642682, 23091106, 23255516, 24084575, 24362816, 26101330, 26385421, 26657901, 27013479, 28754778, 28772289, 31337882, 7903889, 7942843"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MLH10Lynch"	"2023-11-30"
"GENCC_000106-HGNC_25068-OMIM_618839-HP_0000005-GENCC_100004"	"HGNC:25068"	"GATC"	"MONDO:0030008"	"combined oxidative phosphorylation deficiency 42"	"OMIM:618839"	"Combined oxidative phosphorylation deficiency 42"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25068"	"GATC"	"OMIM:618839"	"Combined oxidative phosphorylation deficiency 42"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-15 15:17:30"	""	""	"30283131"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GATC0GATCrel"	"2023-11-30"
"GENCC_000106-HGNC_7154-OMIM_617017-HP_0000006-GENCC_100004"	"HGNC:7154"	"MME"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"OMIM:617017"	"Charcot-Marie-Tooth disease, axonal, type 2T"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7154"	"MME"	"OMIM:617017"	"Charcot-Marie-Tooth disease axonal type 2T"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 10:53:24"	""	""	"26991897, 27588448, 30415211, 31429185, 33144514"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MME0CMT02"	"2023-11-30"
"GENCC_000106-HGNC_7154-OMIM_617018-HP_0000006-GENCC_100004"	"HGNC:7154"	"MME"	"MONDO:0014867"	"spinocerebellar ataxia 43"	"OMIM:617018"	"?Spinocerebellar ataxia 43"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7154"	"MME"	"OMIM:617018"	"spinocerebellar ataxia 43"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 07:30:56"	""	""	"27583304"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MME0SCA"	"2023-11-30"
"GENCC_000106-HGNC_6708-OMIM_618840-HP_0000007-GENCC_100002"	"HGNC:6708"	"LSS"	"MONDO:0030009"	"alopecia-intellectual disability syndrome 4"	"OMIM:618840"	"Alopecia-intellectual disability syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6708"	"LSS"	"OMIM:618840"	"Alopecia-intellectual disability syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 19:25:07"	""	""	"30401459, 30723320, 31322293"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LSS0AlopeciaMRSyn"	"2023-11-30"
"GENCC_000106-HGNC_7160-OMIM_277950-HP_0000005-GENCC_100004"	"HGNC:7160"	"MMP14"	"MONDO:0010201"	"Winchester syndrome"	"OMIM:277950"	"Winchester syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7160"	"MMP14"	"OMIM:277950"	"Winchester syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:47"	""	""	"10520996, 22922033, 29741626"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MMP140Winchester"	"2023-11-30"
"GENCC_000106-HGNC_14334-OMIM_618847-HP_0000005-GENCC_100004"	"HGNC:14334"	"MRTFA"	"MONDO:0030013"	"immunodeficiency 66"	"OMIM:618847"	"?Immunodeficiency 66"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14334"	"MRTFA"	"OMIM:618847"	"?Immunodeficiency 66 "	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-14 13:42:13"	""	""	"23744493, 25363768, 26224645, 27479822, 27507698"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MKL10MKL1rel"	"2023-11-30"
"GENCC_000106-HGNC_7180-OMIM_618774-HP_0000006-GENCC_100002"	"HGNC:7180"	"MN1"	"MONDO:0032908"	"CEBALID syndrome"	"OMIM:618774"	"CEBALID syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7180"	"MN1"	"OMIM:618774"	"CEBALID syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-20 19:42:56"	""	""	"31834374, 31839203"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MN10CEBALID"	"2023-11-30"
"GENCC_000106-HGNC_7197-OMIM_614250-HP_0000005-GENCC_100004"	"HGNC:7197"	"MOG"	"MONDO:0013652"	"narcolepsy 7"	"OMIM:614250"	"?Narcolepsy 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7197"	"MOG"	"OMIM:614250"	"?Narcolepsy 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-12 14:03:59"	""	""	"21907016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MOG0?Narcole02"	"2023-11-30"
"GENCC_000106-HGNC_2548-OMIM_618884-HP_0000007-GENCC_100002"	"HGNC:2548"	"CUBN"	"MONDO:0030042"	"proteinuria, chronic benign"	"OMIM:618884"	"[Proteinuria, chronic benign]"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2548"	"CUBN"	"OMIM:618884"	"[Proteinuria, chronic benign]"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-20 20:34:03"	""	""	"31613795, 36266725, 37384121"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CUBN0CBProteinuria"	"2023-11-30"
"GENCC_000106-HGNC_11363-OMIM_618886-HP_0000007-GENCC_100002"	"HGNC:11363"	"STAT2"	"MONDO:0030044"	"pseudo-TORCH syndrome 3"	"OMIM:618886"	"Pseudo-TORCH syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11363"	"STAT2"	"OMIM:618886"	"Pseudo-TORCH syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-19 18:03:46"	""	""	"31836668, 32092142, 36753016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT20IFNopathy1"	"2023-11-30"
"GENCC_000106-HGNC_7199-OMIM_620383-HP_0000005-GENCC_100004"	"HGNC:7199"	"MOS"	"MONDO:0957278"	"oocyte/zygote/embryo maturation arrest 20"	"OMIM:620383"	"Oocyte/zygote/embryo maturation arrest 20"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7199"	"MOS"	"OMIM:620383"	"Oocyte/zygote/embryo maturation arrest 20"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 14:39:38"	""	""	"34779126, 34997960, 35670744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MOS0MOSrel"	"2023-11-30"
"GENCC_000106-HGNC_7208-OMIM_615219-HP_0000007-GENCC_100002"	"HGNC:7208"	"MPDZ"	"MONDO:0014085"	"hydrocephalus, nonsyndromic, autosomal recessive 2"	"OMIM:615219"	"Hydrocephalus, congenital, 2, with or without brain or eye anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7208"	"MPDZ"	"OMIM:615219"	"hydrocephalus, nonsyndromic, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:53"	""	""	"23240096, 27391121, 28460636, 28556411"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPDZ0Hydrocephalus"	"2023-11-30"
"GENCC_000106-HGNC_28672-OMIM_618935-HP_0000007-GENCC_100002"	"HGNC:28672"	"CYBC1"	"MONDO:0030066"	"granulomatous disease, chronic, autosomal recessive, 5"	"OMIM:618935"	"Chronic granulomatous disease 5, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28672"	"CYBC1"	"OMIM:618935"	"Chronic granulomatous disease 5, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-17 16:02:34"	""	""	"28351984, 28600779, 30312704, 30361506, 37055004"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C17orf620ChronicGran"	"2023-11-30"
"GENCC_000106-HGNC_7217-OMIM_604498-HP_0000007-GENCC_100002"	"HGNC:7217"	"MPL"	"MONDO:0011469"	"congenital amegakaryocytic thrombocytopenia"	"OMIM:604498"	"Amegakaryocytic thrombocytopenia, congenital, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7217"	"MPL"	"OMIM:604498"	"congenital amegakaryocytic thrombocytopenia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-21 14:42:02"	""	""	"11133753, 16351641, 8073287"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPL0AmegakThromboc"	"2023-11-30"
"GENCC_000106-HGNC_7224-OMIM_618400-HP_0000007-GENCC_100002"	"HGNC:7224"	"MPV17"	"MONDO:0032728"	"Charcot-Marie-Tooth disease, axonal, type 2EE"	"OMIM:618400"	"Charcot-Marie-Tooth disease, axonal, type 2EE"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7224"	"MPV17"	"OMIM:618400"	"Charcot-Marie-Tooth disease, axonal, type 2EE"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-06-03 14:01:57"	""	""	"26437932, 30298599"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPV170CMT"	"2023-11-30"
"GENCC_000106-HGNC_7224-OMIM_256810-HP_0000007-GENCC_100002"	"HGNC:7224"	"MPV17"	"MONDO:0009747"	"mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"	"OMIM:256810"	"Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7224"	"MPV17"	"OMIM:256810"	"mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-30 13:42:44"	""	""	"18695062, 18818194, 23714749, 26437932, 30298599"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPV170MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_7225-OMIM_118200-HP_0000006-GENCC_100002"	"HGNC:7225"	"MPZ"	"MONDO:0007307"	"Charcot-Marie-Tooth disease type 1B"	"OMIM:118200"	"Charcot-Marie-Tooth disease, type 1B"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7225"	"MPZ"	"OMIM:118200"	"Charcot-Marie-Tooth disease type 1B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-10 17:02:36"	""	""	"11160475, 11437164, 14711881, 19259128, 20461396, 30271005"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPZ0CMT02"	"2023-11-30"
"GENCC_000106-HGNC_7230-OMIM_604391-HP_0000007-GENCC_100002"	"HGNC:7230"	"MRE11"	"MONDO:0024557"	"ataxia-telangiectasia-like disorder 1"	"OMIM:604391"	"Ataxia-telangiectasia-like disorder 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7230"	"MRE11"	"OMIM:604391"	"ataxia-telangiectasia-like disorder 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-29 08:59:51"	""	""	"10612394, 15269180, 15574463, 18652530, 19732584, 21227757, 21324166, 22863007, 23080121, 23912341, 24332946"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRE110Atlike"	"2023-11-30"
"GENCC_000106-HGNC_1226-OMIM_618940-HP_0000006-GENCC_100002"	"HGNC:1226"	"GIPC1"	"MONDO:0030134"	"oculopharyngodistal myopathy 2"	"OMIM:618940"	"Oculopharyngodistal myopathy 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1226"	"GIPC1"	"OMIM:618940"	"Oculopharyngodistal myopathy 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-04 11:08:33"	""	""	"32413282, 33374016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GIPC10OPDM"	"2023-11-30"
"GENCC_000106-HGNC_10379-OMIM_614582-HP_0000007-GENCC_100002"	"HGNC:10379"	"MRPL3"	"MONDO:0013811"	"combined oxidative phosphorylation defect type 9"	"OMIM:614582"	"Combined oxidative phosphorylation deficiency 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10379"	"MRPL3"	"OMIM:614582"	"combined oxidative phosphorylation defect type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"2137204, 21786366, 27815843, 28074886, 32341096, 34008913"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPL30OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_14049-OMIM_618378-HP_0000005-GENCC_100004"	"HGNC:14049"	"MRPS14"	"MONDO:0032712"	"combined oxidative phosphorylation deficiency 38"	"OMIM:618378"	"?Combined oxidative phosphorylation deficiency 38"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14049"	"MRPS14"	"OMIM:618378"	"?Combined oxidative phosphorylation deficiency 38"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"30358850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS140MRPS14rel"	"2023-11-30"
"GENCC_000106-HGNC_14495-OMIM_617950-HP_0000005-GENCC_100004"	"HGNC:14495"	"MRPS2"	"MONDO:0054781"	"combined oxidative phosphorylation deficiency 36"	"OMIM:617950"	"Combined oxidative phosphorylation deficiency 36"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14495"	"MRPS2"	"OMIM:617950"	"combined oxidative phosphorylation deficiency 36"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-07 13:32:32"	""	""	"20877624, 29576219, 34991560"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS20MRPS2rel"	"2023-11-30"
"GENCC_000106-HGNC_14508-OMIM_611719-HP_0000007-GENCC_100002"	"HGNC:14508"	"MRPS22"	"MONDO:0012718"	"hypotonia with lactic acidemia and hyperammonemia"	"OMIM:611719"	"Combined oxidative phosphorylation deficiency 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14508"	"MRPS22"	"OMIM:611719"	"hypotonia with lactic acidemia and hyperammonemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:43:42"	""	""	"17873122, 1928137, 21189481, 25663021, 27159321, 28425981, 28752220, 29096039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS220OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_14508-OMIM_618117-HP_0000007-GENCC_100004"	"HGNC:14508"	"MRPS22"	"MONDO:0020857"	"ovarian dysgenesis 7"	"OMIM:618117"	"Ovarian dysgenesis 7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14508"	"MRPS22"	"OMIM:618117"	"Ovarian dysgenesis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"29566152"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS220POI"	"2023-11-30"
"GENCC_000106-HGNC_10378-OMIM_618951-HP_0000005-GENCC_100004"	"HGNC:10378"	"MRPL12"	"MONDO:0033533"	"combined oxidative phosphorylation deficiency 45"	"OMIM:618951"	"?Combined oxidative phosphorylation deficiency 45"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10378"	"MRPL12"	"OMIM:618951"	"?Combined oxidative phosphorylation deficiency 45"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:55"	""	""	"23603806"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPL120MRPL12rel"	"2023-11-30"
"GENCC_000106-HGNC_14511-OMIM_619025-HP_0000005-GENCC_100004"	"HGNC:14511"	"MRPS25"	"MONDO:0033570"	"combined oxidative phosphorylation deficiency 50"	"OMIM:619025"	"?Combined oxidative phosphorylation deficiency 50"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14511"	"MRPS25"	"OMIM:619025"	"?Combined oxidative phosphorylation deficiency 50"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-10-01 07:26:40"	""	""	"31039582"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS250MRPS25rel"	"2023-11-30"
"GENCC_000106-HGNC_14513-OMIM_618958-HP_0000005-GENCC_100004"	"HGNC:14513"	"MRPS28"	"MONDO:0033537"	"combined oxidative phosphorylation deficiency 47"	"OMIM:618958"	"?Combined oxidative phosphorylation deficiency 47"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14513"	"MRPS28"	"OMIM:618958"	"combined oxidative phosphorylation deficiency 47"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:01"	""	""	"30566640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS280MRPS28rel"	"2023-11-30"
"GENCC_000106-HGNC_14509-OMIM_618952-HP_0000005-GENCC_100004"	"HGNC:14509"	"MRPS23"	"MONDO:0033534"	"combined oxidative phosphorylation deficiency 46"	"OMIM:618952"	"?Combined oxidative phosphorylation deficiency 46"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14509"	"MRPS23"	"OMIM:618952"	"?Combined oxidative phosphorylation deficiency 46"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-17 13:30:07"	""	""	"26741492"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MRPS230OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_9056-OMIM_618961-HP_0000005-GENCC_100004"	"HGNC:9056"	"PLCB3"	"MONDO:0030074"	"spondylometaphyseal dysplasia with corneal dystrophy"	"OMIM:618961"	"Spondylometaphyseal dysplasia with corneal dystrophy"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9056"	"PLCB3"	"OMIM:618961"	"Spondylometaphyseal dysplasia with corneal dystrophy"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-17 13:27:47"	""	""	"29122926"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCB30SMD"	"2023-11-30"
"GENCC_000106-HGNC_7325-OMIM_120435-HP_0000006-GENCC_100002"	"HGNC:7325"	"MSH2"	"MONDO:0007356"	"Lynch syndrome 1"	"OMIM:120435"	"Lynch syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7325"	"MSH2"	"OMIM:120435"	"Lynch syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 20:45:56"	""	""	"10498885, 10518225, 15772852, 15849733, 16807412, 17720936, 18398828, 18554281, 19215248, 19900449, 19931261, 20301390, 21642682, 22102614, 23091106, 23255516, 23391514, 24362816, 26101330, 26657901, 27013479, 28754778, 28772289, 31337882, 7903889, 7942843, 8484120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSH20Lynch"	"2023-11-30"
"GENCC_000106-HGNC_7327-OMIM_619938-HP_0000007-GENCC_100004"	"HGNC:7327"	"MSH4"	"MONDO:0030975"	"premature ovarian failure 20"	"OMIM:619938"	"Premature ovarian failure 20"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7327"	"MSH4"	"OMIM:619938"	"premature ovarian failure 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-08 12:40:41"	""	""	"28541421, 33448284"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSH40POI"	"2023-11-30"
"GENCC_000106-HGNC_7328-OMIM_619937-HP_0000007-GENCC_100002"	"HGNC:7328"	"MSH5"	"MONDO:0030972"	"spermatogenic failure 74"	"OMIM:619937"	"Spermatogenic failure 74"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7328"	"MSH5"	"OMIM:619937"	"Spermatogenic failure 74"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 10:11:52"	""	""	"34755185"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSH50Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_7328-OMIM_617442-HP_0000005-GENCC_100004"	"HGNC:7328"	"MSH5"	"MONDO:0044317"	"premature ovarian failure 13"	"OMIM:617442"	"?Premature ovarian failure 13"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7328"	"MSH5"	"OMIM:617442"	"?Premature ovarian failure 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-03 15:41:33"	""	""	"26193622, 26822949, 28175301, 32772095, 32901360"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSH50MSH5rel"	"2023-11-30"
"GENCC_000106-HGNC_10545-OMIM_616834-HP_0000007-GENCC_100002"	"HGNC:10545"	"MSMO1"	"MONDO:0014793"	"microcephaly-congenital cataract-psoriasiform dermatitis syndrome"	"OMIM:616834"	"Microcephaly, congenital cataract, and psoriasiform dermatitis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10545"	"MSMO1"	"OMIM:616834"	"microcephaly-congenital cataract-psoriasiform dermatitis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-19 15:42:50"	""	""	"21285510, 24144731, 27513193, 28673550, 33161406, 37195326, 616834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSMO10MCCPD"	"2023-11-30"
"GENCC_000106-HGNC_7381-OMIM_617075-HP_0000006-GENCC_100004"	"HGNC:7381"	"MST1R"	"MONDO:0014902"	"nasopharyngeal carcinoma, susceptibility to, 3"	"OMIM:617075"	"{Nasopharyngeal carcinoma, susceptibility to, 3}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7381"	"MST1R"	"OMIM:617075"	"{Nasopharyngeal carcinoma, susceptibility to, 3}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-25 14:20:11"	""	""	"25790160, 26038974, 26951679, 28100548"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MST1R0{Nasopha"	"2023-11-30"
"GENCC_000106-HGNC_7391-OMIM_106600-HP_0000006-GENCC_100002"	"HGNC:7391"	"MSX1"	"MONDO:0007129"	"tooth agenesis, selective, 1"	"OMIM:106600"	"Tooth agenesis, selective, 1, with or without orofacial cleft"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7391"	"MSX1"	"OMIM:106600"	"Tooth agenesis, selective, 1, with or without orofacial cleft"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:20:43"	""	""	"10742093, 12097313, 15264286, 16498076, 26502894, 8696335, 9742121"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSX10ToothAgen"	"2023-11-30"
"GENCC_000106-HGNC_7391-OMIM_189500-HP_0000006-GENCC_100004"	"HGNC:7391"	"MSX1"	"MONDO:0008582"	"tooth and nail syndrome"	"OMIM:189500"	"Ectodermal dysplasia 3, Witkop type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7391"	"MSX1"	"OMIM:189500"	"Ectodermal dysplasia 3, Witkop type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-18 11:57:41"	""	""	"1054139, 10815578, 11369996, 4521949, 8466837, 8469557"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSX10Witkop"	"2023-11-30"
"GENCC_000106-HGNC_7392-OMIM_604757-HP_0000006-GENCC_100002"	"HGNC:7392"	"MSX2"	"MONDO:0011481"	"craniosynostosis 2"	"OMIM:604757"	"Craniosynostosis 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7392"	"MSX2"	"OMIM:604757"	"craniosynostosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-06 09:49:26"	""	""	"10767351, 18786927, 23918290, 27013732, 28160402, 28808027, 7597092, 8106171, 8968743, 9147639"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSX20Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_7392-OMIM_168500-HP_0000006-GENCC_100002"	"HGNC:7392"	"MSX2"	"MONDO:0008197"	"parietal foramina 1"	"OMIM:168500"	"Parietal foramina 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7392"	"MSX2"	"OMIM:168500"	"parietal foramina 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:25:27"	""	""	"10742103, 10742104, 10767351, 14571277, 16222674, 16319823"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MSX20ParietalFora"	"2023-11-30"
"GENCC_000106-HGNC_29666-OMIM_614947-HP_0000007-GENCC_100002"	"HGNC:29666"	"MTFMT"	"MONDO:0013987"	"combined oxidative phosphorylation defect type 15"	"OMIM:614947"	"Combined oxidative phosphorylation deficiency 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29666"	"MTFMT"	"OMIM:614947"	"combined oxidative phosphorylation defect type 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"21907147, 24461907"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTFMT0OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_5438-OMIM_618963-HP_0000005-GENCC_100004"	"HGNC:5438"	"IFNG"	"MONDO:0033541"	"immunodeficiency 69"	"OMIM:618963"	"?Immunodeficiency 69, mycobacteriosis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5438"	"IFNG"	"OMIM:618963"	"?Immunodeficiency 69, mycobacteriosis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-07 06:50:51"	""	""	"32163377"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFNG0IFNGrel"	"2023-11-30"
"GENCC_000106-HGNC_7436-OMIM_236250-HP_0000007-GENCC_100002"	"HGNC:7436"	"MTHFR"	"MONDO:0009353"	"homocystinuria due to methylene tetrahydrofolate reductase deficiency"	"OMIM:236250"	"Homocystinuria due to MTHFR deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7436"	"MTHFR"	"OMIM:236250"	"homocystinuria due to methylene tetrahydrofolate reductase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 23:23:54"	""	""	"25736335"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTHFR0SevereMTHFRdef"	"2023-11-30"
"GENCC_000106-HGNC_11367-OMIM_618985-HP_0000006-GENCC_100002"	"HGNC:11367"	"STAT5B"	"MONDO:0100219"	"growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant"	"OMIM:618985"	"Growth hormone insensitivity with immune dysregulation 2, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11367"	"STAT5B"	"OMIM:618985"	"Growth hormone insensitivity with immune dysregulation 2, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-18 08:06:10"	""	""	"29844444"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT5B0GHI02"	"2023-11-30"
"GENCC_000106-HGNC_7468-OMIM_250940-HP_0000007-GENCC_100002"	"HGNC:7468"	"MTR"	"MONDO:0009609"	"methylcobalamin deficiency type cblG"	"OMIM:250940"	"Homocystinuria-megaloblastic anemia, cblG complementation type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7468"	"MTR"	"OMIM:250940"	"methylcobalamin deficiency type cblG"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"12068375, 15714522, 22786600, 25526710, 9683607"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTR0HMA"	"2023-11-30"
"GENCC_000106-HGNC_7473-OMIM_236270-HP_0000007-GENCC_100002"	"HGNC:7473"	"MTRR"	"MONDO:0009354"	"methylcobalamin deficiency type cblE"	"OMIM:236270"	"Homocystinuria-megaloblastic anemia, cbl E type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7473"	"MTRR"	"OMIM:236270"	"methylcobalamin deficiency type cblE"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:04"	""	""	"15714522, 236270"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTRR0CblE"	"2023-11-30"
"GENCC_000106-HGNC_9802-OMIM_618987-HP_0000007-GENCC_100002"	"HGNC:9802"	"RAC2"	"MONDO:0033555"	"immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"	"OMIM:618987"	"?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9802"	"RAC2"	"OMIM:618987"	"?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 11:31:26"	""	""	"25512081, 29921932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAC20CVID"	"2023-11-30"
"GENCC_000106-HGNC_7525-OMIM_616325-HP_0000007-GENCC_100002"	"HGNC:7525"	"MUSK"	"MONDO:0014587"	"congenital myasthenic syndrome 9"	"OMIM:616325"	"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7525"	"MUSK"	"OMIM:616325"	"congenital myasthenic syndrome 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-03-15 10:15:37"	""	""	"20371544, 24122059, 25537362, 25612909, 25695962, 25900532"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MUSK0CMS"	"2023-11-30"
"GENCC_000106-HGNC_7525-OMIM_208150-HP_0000007-GENCC_100002"	"HGNC:7525"	"MUSK"	"MONDO:0100101"	"fetal akinesia deformation sequence 1"	"OMIM:208150"	"Fetal akinesia deformation sequence 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7525"	"MUSK"	"OMIM:208150"	"fetal akinesia deformation sequence 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 11:28:26"	""	""	"25537362, 25612909, 8653786"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MUSK0FADS"	"2023-11-30"
"GENCC_000106-HGNC_7526-OMIM_251000-HP_0000007-GENCC_100002"	"HGNC:7526"	"MMUT"	"MONDO:0009612"	"methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"	"OMIM:251000"	"Methylmalonic aciduria, mut(0) type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7526"	"MMUT"	"OMIM:251000"	"methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-07 13:42:22"	""	""	"15781192, 16281286, 22614770, 251000"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MUT0Methylmalonic"	"2023-11-30"
"GENCC_000106-HGNC_7529-OMIM_614714-HP_0000006-GENCC_100002"	"HGNC:7529"	"MVD"	"MONDO:0013868"	"porokeratosis 7, multiple types"	"OMIM:614714"	"Porokeratosis 7, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7529"	"MVD"	"OMIM:614714"	"porokeratosis 7, multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:18"	""	""	"26202976, 27422687, 28777842, 29722423, 30942823"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MVD0Porokera"	"2023-11-30"
"GENCC_000106-HGNC_7530-OMIM_610377-HP_0000007-GENCC_100002"	"HGNC:7530"	"MVK"	"MONDO:0012481"	"mevalonic aciduria"	"OMIM:610377"	"Mevalonic aciduria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7530"	"MVK"	"OMIM:610377"	"mevalonic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 18:28:10"	""	""	"12634869, 15536479, 16835861, 17105862, 19011501, 19531764, 22246419, 23834120, 26986117, 32822427"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MVK0Mevalonic"	"2023-11-30"
"GENCC_000106-HGNC_7696-OMIM_619003-HP_0000005-GENCC_100004"	"HGNC:7696"	"NDUFB10"	"MONDO:0033560"	"mitochondrial complex 1 deficiency, nuclear type 35"	"OMIM:619003"	"?Mitochondrial complex I deficiency, nuclear type 35"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7696"	"NDUFB10"	"OMIM:619003"	"?Mitochondrial complex I deficiency, nuclear type 35"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-14 11:13:14"	""	""	"28040730"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFB100CIdef"	"2023-11-30"
"GENCC_000106-HGNC_7549-OMIM_618524-HP_0000006-GENCC_100002"	"HGNC:7549"	"MYBPC1"	"MONDO:0032797"	"myopathy, congenital, with tremor"	"OMIM:618524"	"Congenital myopathy 16"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7549"	"MYBPC1"	"OMIM:618524"	"myopathy, congenital, with tremor"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-27 12:14:01"	""	""	"20045868, 25679999, 31025394, 31264822"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYBPC10ContMyopathy"	"2023-11-30"
"GENCC_000106-HGNC_7551-OMIM_115197-HP_0000006-GENCC_100002"	"HGNC:7551"	"MYBPC3"	"MONDO:0007268"	"hypertrophic cardiomyopathy 4"	"OMIM:115197"	"Cardiomyopathy, hypertrophic, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7551"	"MYBPC3"	"OMIM:115197"	"hypertrophic cardiomyopathy 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-04 21:51:35"	""	""	"17937428, 19151713, 19574547, 22455086, 29524613, 47353826, 47353850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYBPC30HCM"	"2023-11-30"
"GENCC_000106-HGNC_7559-OMIM_164280-HP_0000006-GENCC_100002"	"HGNC:7559"	"MYCN"	"MONDO:0008115"	"Feingold syndrome type 1"	"OMIM:164280"	"Feingold syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7559"	"MYCN"	"OMIM:164280"	"Feingold syndrome type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-05-31 02:31:25"	""	""	"18470948"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYCN0Feingold"	"2023-11-30"
"GENCC_000106-HGNC_5384-OMIM_619007-HP_0000007-GENCC_100002"	"HGNC:5384"	"IDH3A"	"MONDO:0033563"	"retinitis pigmentosa 90"	"OMIM:619007"	"Retinitis pigmentosa 90"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5384"	"IDH3A"	"OMIM:619007"	"Retinitis pigmentosa 90"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 11:09:00"	""	""	"23876293, 28412069, 30058936, 30478029, 31012789"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IDH3A0RP"	"2023-11-30"
"GENCC_000106-HGNC_7569-OMIM_132900-HP_0000006-GENCC_100002"	"HGNC:7569"	"MYH11"	"MONDO:0007568"	"aortic aneurysm, familial thoracic 4"	"OMIM:132900"	"Aortic aneurysm, familial thoracic 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7569"	"MYH11"	"OMIM:132900"	"aortic aneurysm, familial thoracic 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 11:17:46"	""	""	"16444274, 17666408, 21698135, 22318994, 23099432"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH110TAAD"	"2023-11-30"
"GENCC_000106-HGNC_23212-OMIM_600652-HP_0000006-GENCC_100002"	"HGNC:23212"	"MYH14"	"MONDO:0010915"	"autosomal dominant nonsyndromic hearing loss 4A"	"OMIM:600652"	"Deafness, autosomal dominant 4A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23212"	"MYH14"	"OMIM:600652"	"autosomal dominant nonsyndromic hearing loss 4A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-10 11:02:25"	""	""	"15015131, 15845534, 16222661, 20861308, 25289672, 26969326, 27068579, 27393652, 27610647, 27911912, 28221712, 34681017"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH140Deafness"	"2023-11-30"
"GENCC_000106-HGNC_23212-OMIM_614369-HP_0000006-GENCC_100002"	"HGNC:23212"	"MYH14"	"MONDO:0013711"	"peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"	"OMIM:614369"	"?Peripheral neuropathy, myopathy, hoarseness, and hearing loss"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23212"	"MYH14"	"OMIM:614369"	"peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-21 16:04:56"	""	""	"21480433, 27875632, 30373780, 31231018, 31692161, 32657593, 35274842"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH140PeriphNeurop"	"2023-11-30"
"GENCC_000106-HGNC_7573-OMIM_601680-HP_0000006-GENCC_100002"	"HGNC:7573"	"MYH3"	"MONDO:0020820"	"distal arthrogryposis type 2B1"	"OMIM:601680"	"Arthrogryposis, distal, type 2B1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7573"	"MYH3"	"OMIM:601680"	"distal arthrogryposis type 2B1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-11 14:03:11"	""	""	"16642020, 20924721, 22519952, 22918376, 25256237, 25740846, 25957469, 26544689, 29805041"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH30Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_7576-OMIM_613251-HP_0000006-GENCC_100002"	"HGNC:7576"	"MYH6"	"MONDO:0013197"	"hypertrophic cardiomyopathy 14"	"OMIM:613251"	"Cardiomyopathy, hypertrophic, 14"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7576"	"MYH6"	"OMIM:613251"	"hypertrophic cardiomyopathy 14"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-12 13:59:36"	""	""	"15735645, 17311471, 19538634, 20656787, 22011241, 22194935, 23861362, 24973560, 26085007, 27760138, 27789736, 28074886, 28991257, 29332214, 29368431, 29505555, 29536580, 29915097, 29969989, 31638415, 32656206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH60SyndStructHeart"	"2023-11-30"
"GENCC_000106-HGNC_7577-OMIM_613426-HP_0000006-GENCC_100002"	"HGNC:7577"	"MYH7"	"MONDO:0013262"	"dilated cardiomyopathy 1S"	"OMIM:613426"	"Cardiomyopathy, dilated, 1S"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7577"	"MYH7"	"OMIM:613426"	"dilated cardiomyopathy 1S"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-01 16:17:50"	""	""	"20530761, 21750094, 22821910, 24503780, 30588760"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH70DCM"	"2023-11-30"
"GENCC_000106-HGNC_7577-OMIM_160500-HP_0000006-GENCC_100002"	"HGNC:7577"	"MYH7"	"MONDO:0008050"	"MYH7-related skeletal myopathy"	"OMIM:160500"	"Laing distal myopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7577"	"MYH7"	"OMIM:160500"	"MYH7-related skeletal myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 09:03:23"	""	""	"16103042, 19336582, 20733148, 21150886, 24664454"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH70DistalMyop"	"2023-11-30"
"GENCC_000106-HGNC_7577-OMIM_192600-HP_0000006-GENCC_100002"	"HGNC:7577"	"MYH7"	"MONDO:0008647"	"hypertrophic cardiomyopathy 1"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1, digenic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7577"	"MYH7"	"OMIM:192600"	"hypertrophic cardiomyopathy 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-27 20:39:25"	""	""	"18533079, 19035361, 20530761, 20624503, 22821910, 23798412"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH70HCM"	"2023-11-30"
"GENCC_000106-HGNC_7578-OMIM_158300-HP_0000006-GENCC_100002"	"HGNC:7578"	"MYH8"	"MONDO:0008016"	"trismus-pseudocamptodactyly syndrome"	"OMIM:158300"	"Trismus-pseudocamptodactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7578"	"MYH8"	"OMIM:158300"	"trismus-pseudocamptodactyly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"17041932, 18049072, 20949528, 28377322"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH80TPS"	"2023-11-30"
"GENCC_000106-HGNC_17920-OMIM_619024-HP_0000005-GENCC_100004"	"HGNC:17920"	"MIEF2"	"MONDO:0033569"	"combined oxidative phosphorylation deficiency 49"	"OMIM:619024"	"?Combined oxidative phosphorylation deficiency 49"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17920"	"MIEF2"	"OMIM:619024"	"?Combined oxidative phosphorylation deficiency 49"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:14"	""	""	"25058219, 29361167"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MIEF20MitoMyopathy"	"2023-11-30"
"GENCC_000106-HGNC_28722-OMIM_619028-HP_0000005-GENCC_100004"	"HGNC:28722"	"COQ5"	"MONDO:0033615"	"coenzyme q10 deficiency, primary, 9"	"OMIM:619028"	"?Coenzyme Q10 deficiency, primary, 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28722"	"COQ5"	"OMIM:619028"	"?Coenzyme Q10 deficiency, primary, 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-26 12:40:59"	""	""	"21937992, 23597238, 29044765, 9083048"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COQ50CoQ10Def"	"2023-11-30"
"GENCC_000106-HGNC_7582-OMIM_618414-HP_0000005-GENCC_100004"	"HGNC:7582"	"MYL1"	"MONDO:0034109"	"congenital myopathy with reduced type 2 muscle fibers"	"OMIM:618414"	"Congenital myopathy 14"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7582"	"MYL1"	"OMIM:618414"	"congenital myopathy with reduced type 2 muscle fibers"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-06-03 14:02:13"	""	""	"30215711"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYL10CM"	"2023-11-30"
"GENCC_000106-HGNC_11480-OMIM_619040-HP_0000007-GENCC_100002"	"HGNC:11480"	"SVIL"	"MONDO:0033620"	"myofibrillar myopathy 10"	"OMIM:619040"	"Myofibrillar myopathy 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11480"	"SVIL"	"OMIM:619040"	"Myofibrillar myopathy 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-14 07:46:49"	""	""	"32779703"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SVIL0Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_28514-OMIM_619044-HP_0000005-GENCC_100004"	"HGNC:28514"	"CEP112"	"MONDO:0033622"	"spermatogenic failure 44"	"OMIM:619044"	"Spermatogenic failure 44"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28514"	"CEP112"	"OMIM:619044"	"Spermatogenic failure 44"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-10-14 07:10:58"	""	""	"30296263, 31654588"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CEP1120CEP112rel"	"2023-11-30"
"GENCC_000106-HGNC_29010-OMIM_619056-HP_0000006-GENCC_100002"	"HGNC:29010"	"SETD1A"	"MONDO:0033630"	"neurodevelopmental disorder with speech impairment and dysmorphic facies"	"OMIM:619056"	"Neurodevelopmental disorder with speech impairment and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29010"	"SETD1A"	"OMIM:619056"	"Neurodevelopmental disorder with speech impairment and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 14:51:36"	""	""	"26974950, 29463886, 31197650, 32346159"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETD1A0SETD1Arel"	"2023-11-30"
"GENCC_000106-HGNC_7603-OMIM_251850-HP_0000007-GENCC_100002"	"HGNC:7603"	"MYO5B"	"MONDO:0009635"	"microvillus inclusion disease"	"OMIM:251850"	"Diarrhea 2, with microvillus atrophy, with or without cholestasis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7603"	"MYO5B"	"OMIM:251850"	"microvillus inclusion disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 08:47:47"	""	""	"18724368, 20186687, 251850, 26201991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO5B0Microvil"	"2023-11-30"
"GENCC_000106-HGNC_7606-OMIM_600060-HP_0000007-GENCC_100002"	"HGNC:7606"	"MYO7A"	"MONDO:0010807"	"autosomal recessive nonsyndromic hearing loss 2"	"OMIM:600060"	"Deafness, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7606"	"MYO7A"	"OMIM:600060"	"autosomal recessive nonsyndromic hearing loss 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-10 10:37:38"	""	""	"18181211, 20132242, 26226137, 9171832, 9171833"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO7A0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_7606-OMIM_276900-HP_0000007-GENCC_100002"	"HGNC:7606"	"MYO7A"	"MONDO:0700087"	"Usher syndrome type 1B"	"OMIM:276900"	"Usher syndrome, type 1B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7606"	"MYO7A"	"OMIM:276900"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-06 21:32:38"	""	""	"16963483, 21436283, 22135276, 25333064, 25404053, 8900236"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO7A0Usher"	"2023-11-30"
"GENCC_000106-HGNC_7608-OMIM_618198-HP_0000005-GENCC_100004"	"HGNC:7608"	"MYO9A"	"MONDO:0032597"	"myasthenic syndrome, congenital, 24, presynaptic"	"OMIM:618198"	"Myasthenic syndrome, congenital, 24, presynaptic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7608"	"MYO9A"	"OMIM:618198"	"myasthenic syndrome, congenital, 24, presynaptic"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-02-11 12:19:58"	""	""	"19828736, 26752647, 27259756, 27725659, 30237576, 31394789, 31981491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO9A0MYO9Arel"	"2023-11-30"
"GENCC_000106-HGNC_16067-OMIM_618719-HP_0000005-GENCC_100004"	"HGNC:16067"	"MYOCD"	"MONDO:0032879"	"megabladder, congenital"	"OMIM:618719"	"Megabladder, congenital"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16067"	"MYOCD"	"OMIM:618719"	"megabladder, congenital"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-11 14:44:02"	""	""	"18852265, 25363768, 25558065, 29174092, 30315573, 31513549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYOCD0MYOCDrel"	"2023-11-30"
"GENCC_000106-HGNC_24990-OMIM_619058-HP_0000005-GENCC_100004"	"HGNC:24990"	"COA3"	"MONDO:0033649"	"mitochondrial complex 4 deficiency, nuclear type 14"	"OMIM:619058"	"?Mitochondrial complex IV deficiency, nuclear type 14"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24990"	"COA3"	"OMIM:619058"	"?Mitochondrial complex IV deficiency, nuclear type 14"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-23 14:26:43"	""	""	"25604084"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COA30COA3rel"	"2023-11-30"
"GENCC_000106-HGNC_20492-OMIM_619061-HP_0000007-GENCC_100002"	"HGNC:20492"	"COA8"	"MONDO:0033652"	"mitochondrial complex 4 deficiency, nuclear type 17"	"OMIM:619061"	"Mitochondrial complex IV deficiency, nuclear type 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20492"	"COA8"	"OMIM:619061"	"Mitochondrial complex IV deficiency, nuclear type 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-07 20:22:42"	""	""	"25175347"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"APOPT10MC4def"	"2023-11-30"
"GENCC_000106-HGNC_40045-OMIM_619063-HP_0000005-GENCC_100004"	"HGNC:40045"	"PET117"	"MONDO:0033654"	"mitochondrial complex 4 deficiency, nuclear type 19"	"OMIM:619063"	"?Mitochondrial complex IV deficiency, nuclear type 19"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:40045"	"PET117"	"OMIM:619063"	"?Mitochondrial complex IV deficiency, nuclear type 19"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:02"	""	""	"28386624"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PET1170PET117rel"	"2023-11-30"
"GENCC_000106-HGNC_1181-OMIM_618113-HP_0000005-GENCC_100004"	"HGNC:1181"	"MYRF"	"MONDO:0020853"	"encephalitis/encephalopathy, mild, with reversible myelin vacuolization"	"OMIM:618113"	"Encephalitis/encephalopathy, mild, with reversible myelin vacuolization"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1181"	"MYRF"	"OMIM:618113"	"encephalitis/encephalopathy, mild, with reversible myelin vacuolization"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-09-13 09:15:00"	""	""	"29265453, 29343252"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYRF0MYRFrel"	"2023-11-30"
"GENCC_000106-HGNC_18704-OMIM_309800-HP_0000005-GENCC_100004"	"HGNC:18704"	"NAA10"	"MONDO:0010671"	"microphthalmia, syndromic 1"	"OMIM:309800"	"Microphthalmia, syndromic 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18704"	"NAA10"	"OMIM:309800"	"microphthalmia, syndromic 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:52"	""	""	"24431331, 25376646, 30842225"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAA100Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_15908-OMIM_619717-HP_0000007-GENCC_100002"	"HGNC:15908"	"NAA20"	"MONDO:0030533"	"intellectual developmental disorder, autosomal recessive 73"	"OMIM:619717"	"Intellectual developmental disorder, autosomal recessive 73"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15908"	"NAA20"	"OMIM:619717"	"intellectual developmental disorder, autosomal recessive 73"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-17 15:36:25"	""	""	"34230638"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAA200NAA20dev"	"2023-11-30"
"GENCC_000106-HGNC_26404-OMIM_616034-HP_0000007-GENCC_100004"	"HGNC:26404"	"NADK2"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"OMIM:616034"	"2,4-dienoyl-CoA reductase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26404"	"NADK2"	"OMIM:616034"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"24847004, 27940755, 29388319"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"24DCoA0NADK2"	"2023-11-30"
"GENCC_000106-HGNC_29832-OMIM_618845-HP_0000007-GENCC_100004"	"HGNC:29832"	"NADSYN1"	"MONDO:0030077"	"vertebral, cardiac, renal, and limb defects syndrome 3"	"OMIM:618845"	"Vertebral, cardiac, renal, and limb defects syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29832"	"NADSYN1"	"OMIM:618845"	"vertebral, cardiac, renal, and limb defects syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-04-03 16:10:43"	""	""	"31883644, 36649848, 36951206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NADSYN10NADSYN1rel02"	"2023-11-30"
"GENCC_000106-HGNC_4161-OMIM_619074-HP_0000007-GENCC_100002"	"HGNC:4161"	"LRRC32"	"MONDO:0033641"	"cleft palate, proliferative retinopathy, and developmental delay"	"OMIM:619074"	"Cleft palate, proliferative retinopathy, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4161"	"LRRC32"	"OMIM:619074"	"Cleft palate, proliferative retinopathy, and developmental delay"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-19 11:29:37"	""	""	"28912269, 30976112, 31981491, 35656379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LRRC320LRRC32rel"	"2023-11-30"
"GENCC_000106-HGNC_25126-OMIM_620365-HP_0000006-GENCC_100004"	"HGNC:25126"	"NAF1"	"MONDO:0957261"	"pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7"	"OMIM:620365"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25126"	"NAF1"	"OMIM:620365"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-13 15:56:55"	""	""	"27510903"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAF10NAF1rel"	"2023-11-30"
"GENCC_000106-HGNC_7631-OMIM_609241-HP_0000007-GENCC_100002"	"HGNC:7631"	"NAGA"	"MONDO:0012221"	"alpha-N-acetylgalactosaminidase deficiency type 1"	"OMIM:609241"	"Schindler disease, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7631"	"NAGA"	"OMIM:609241"	"alpha-N-acetylgalactosaminidase deficiency type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:51"	""	""	"11251574, 11313741, 1261422, 19683538, 8040340, 8782044"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAGA0Schindler"	"2023-11-30"
"GENCC_000106-HGNC_19082-OMIM_616266-HP_0000006-GENCC_100002"	"HGNC:19082"	"NALCN"	"MONDO:0014556"	"congenital contractures of the limbs and face, hypotonia, and developmental delay"	"OMIM:616266"	"Congenital contractures of the limbs and face, hypotonia, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19082"	"NALCN"	"OMIM:616266"	"congenital contractures of the limbs and face, hypotonia, and developmental delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-20 19:54:46"	""	""	"25683120, 25864427, 27558372, 27844033, 31409833"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NALCN0CongCont"	"2023-11-30"
"GENCC_000106-HGNC_17057-OMIM_619079-HP_0000005-GENCC_100004"	"HGNC:17057"	"CARD8"	"MONDO:0033643"	"inflammatory bowel disease 30"	"OMIM:619079"	"?Inflammatory bowel disease (Crohn disease) 30"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17057"	"CARD8"	"OMIM:619079"	"?Inflammatory bowel disease (Crohn disease) 30"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-10-08 06:23:33"	""	""	"29408806, 29473046, 37724393"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARD80CARD8rel"	"2023-11-30"
"GENCC_000106-HGNC_6871-OMIM_619087-HP_0000006-GENCC_100002"	"HGNC:6871"	"MAPK1"	"MONDO:0033669"	"Noonan syndrome 13"	"OMIM:619087"	"Noonan syndrome 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6871"	"MAPK1"	"OMIM:619087"	"Noonan syndrome 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:29:48"	""	""	"27004400, 27513193, 28494468, 28512266, 32721402"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPK10MAPK1rel"	"2023-11-30"
"GENCC_000106-HGNC_23573-OMIM_619090-HP_0000006-GENCC_100002"	"HGNC:23573"	"MORC2"	"MONDO:0030835"	"developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy"	"OMIM:619090"	"Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:23573"	"MORC2"	"OMIM:619090"	"Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 14:46:31"	""	""	"26659848, 27105897, 32693025, 34059105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MORC20NDD0syn"	"2023-11-30"
"GENCC_000106-HGNC_26274-OMIM_618434-HP_0000007-GENCC_100004"	"HGNC:26274"	"NARS2"	"MONDO:0032749"	"hearing loss, autosomal recessive 94"	"OMIM:618434"	"?Deafness, autosomal recessive 94"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26274"	"NARS2"	"OMIM:618434"	"hearing loss, autosomal recessive 94"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-19 06:46:32"	""	""	"25807530"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NARS20ARD"	"2023-11-30"
"GENCC_000106-HGNC_26274-OMIM_616239-HP_0000007-GENCC_100002"	"HGNC:26274"	"NARS2"	"MONDO:0014547"	"combined oxidative phosphorylation defect type 24"	"OMIM:616239"	"Combined oxidative phosphorylation deficiency 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26274"	"NARS2"	"OMIM:616239"	"combined oxidative phosphorylation defect type 24"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-26 17:28:37"	""	""	"25385316, 25629079, 25807530, 26402642, 28077841"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NARS20OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_26742-OMIM_614063-HP_0000005-GENCC_100004"	"HGNC:26742"	"NAT8L"	"MONDO:0013549"	"N-acetylaspartate deficiency"	"OMIM:614063"	"?N-acetylaspartate deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26742"	"NAT8L"	"OMIM:614063"	"?N-acetylaspartate deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:05"	""	""	"11310630, 15328569, 16802720, 19807691, 26511242"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAT8L0NAcetylAspDef"	"2023-11-30"
"GENCC_000106-HGNC_15625-OMIM_616483-HP_0000007-GENCC_100002"	"HGNC:15625"	"NBAS"	"MONDO:0014659"	"infantile liver failure syndrome 2"	"OMIM:616483"	"Infantile liver failure syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15625"	"NBAS"	"OMIM:616483"	"infantile liver failure syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 16:04:41"	""	""	"26073778, 26541327"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NBAS0LiverFail"	"2023-11-30"
"GENCC_000106-HGNC_15625-OMIM_614800-HP_0000007-GENCC_100002"	"HGNC:15625"	"NBAS"	"MONDO:0013889"	"short stature-optic atrophy-Pelger-HuC+t anomaly syndrome"	"OMIM:614800"	"Short stature, optic nerve atrophy, and Pelger-Huet anomaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15625"	"NBAS"	"OMIM:614800"	"short stature-optic atrophy-Pelger-HuC+t anomaly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 02:38:49"	""	""	"20577004, 27789416, 28031453, 28425089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NBAS0SOPH"	"2023-11-30"
"GENCC_000106-HGNC_2051-OMIM_619093-HP_0000005-GENCC_100004"	"HGNC:2051"	"CLDN9"	"MONDO:0033670"	"hearing loss, autosomal recessive 116"	"OMIM:619093"	"Deafness, autosomal recessive 116"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2051"	"CLDN9"	"OMIM:619093"	"?Deafness, autosomal recessive 116"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-10 14:23:14"	""	""	"31175426"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLDN90CLDN9-rel"	"2023-11-30"
"GENCC_000106-HGNC_24305-OMIM_617983-HP_0000005-GENCC_100004"	"HGNC:24305"	"NCAPD2"	"MONDO:0054804"	"microcephaly 21, primary, autosomal recessive"	"OMIM:617983"	"Microcephaly 21, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24305"	"NCAPD2"	"OMIM:617983"	"microcephaly 21, primary, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-06-28 12:14:47"	""	""	"27737959, 28097321, 31056748, 31589614"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCAPD20Microcephaly"	"2023-11-30"
"GENCC_000106-HGNC_15832-OMIM_619112-HP_0000006-GENCC_100002"	"HGNC:15832"	"BSCL2"	"MONDO:0030860"	"neuronopathy, distal hereditary motor, type 5C"	"OMIM:619112"	"Neuronopathy, distal hereditary motor, autosomal dominant 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15832"	"BSCL2"	"OMIM:619112"	"Neuronopathy, distal hereditary motor, autosomal dominant 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 09:22:30"	""	""	"11389484, 14981520, 17387721, 17486577, 20806400, 21750110, 23142943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BSCL20CMT"	"2023-11-30"
"GENCC_000106-HGNC_21904-OMIM_618460-HP_0000005-GENCC_100004"	"HGNC:21904"	"NCAPG2"	"MONDO:0032764"	"Khan-Khan-Katsanis syndrome"	"OMIM:618460"	"Khan-Khan-Katsanis syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21904"	"NCAPG2"	"OMIM:618460"	"Khan-Khan-Katsanis syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:13"	""	""	"24013099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCAPG20NCAPG2rel"	"2023-11-30"
"GENCC_000106-HGNC_1112-OMIM_617985-HP_0000005-GENCC_100004"	"HGNC:1112"	"NCAPH"	"MONDO:0054806"	"microcephaly 23, primary, autosomal recessive"	"OMIM:617985"	"?Microcephaly 23, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1112"	"NCAPH"	"OMIM:617985"	"?Microcephaly 23, primary, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"20541044, 27737959"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCAPH0Microcephaly"	"2023-11-30"
"GENCC_000106-HGNC_17597-OMIM_619373-HP_0000006-GENCC_100002"	"HGNC:17597"	"NCDN"	"MONDO:0859162"	"neurodevelopmental disorder with infantile epileptic spasms"	"OMIM:619373"	"Neurodevelopmental disorder with infantile epileptic spasms"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17597"	"NCDN"	"OMIM:619373"	"Neurodevelopmental disorder with infantile epileptic spasms"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-21 12:40:01"	""	""	"33711248, 31785789"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NCDN0NCDNrel"	"2023-11-30"
"GENCC_000106-HGNC_17619-OMIM_614019-HP_0000007-GENCC_100002"	"HGNC:17619"	"NDE1"	"MONDO:0013527"	"lissencephaly 4"	"OMIM:614019"	"Lissencephaly 4 (with microcephaly)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17619"	"NDE1"	"OMIM:614019"	"lissencephaly 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"15473967, 21529751, 21529752, 23704059, 30637988"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDE10Lissencephaly"	"2023-11-30"
"GENCC_000106-HGNC_2584-OMIM_619132-HP_0000006-GENCC_100002"	"HGNC:2584"	"CYLD"	"MONDO:0030872"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 8"	"OMIM:619132"	"?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2584"	"CYLD"	"OMIM:619132"	"?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 "	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 06:42:38"	""	""	"23338750, 32185393, 34868212"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CYLD0ALS"	"2023-11-30"
"GENCC_000106-HGNC_7678-OMIM_305390-HP_0001417-GENCC_100002"	"HGNC:7678"	"NDP"	"MONDO:0010588"	"exudative vitreoretinopathy 2, X-linked"	"OMIM:305390"	"Exudative vitreoretinopathy 2, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7678"	"NDP"	"OMIM:305390"	"exudative vitreoretinopathy 2, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 09:59:41"	""	""	"12040033, 14635119, 17325173, 17955262, 20301506, 21960066, 25711638, 27217716, 28494495, 7794001, 7794002, 7794003, 8252044"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDP0ExudVitreoret"	"2023-11-30"
"GENCC_000106-HGNC_8777-OMIM_619150-HP_0000007-GENCC_100002"	"HGNC:8777"	"PDE2A"	"MONDO:0030900"	"intellectual developmental disorder with paroxysmal dyskinesia or seizures"	"OMIM:619150"	"Intellectual developmental disorder with paroxysmal dyskinesia or seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8777"	"PDE2A"	"OMIM:619150"	"Intellectual developmental disorder with paroxysmal dyskinesia or seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-16 21:48:55"	""	""	"29392776, 29409032, 32196122, 32467598, 37317634"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE2A0PDE2Arel"	"2023-11-30"
"GENCC_000106-HGNC_7648-OMIM_619157-HP_0000006-GENCC_100002"	"HGNC:7648"	"NBEA"	"MONDO:0030930"	"neurodevelopmental disorder with or without early-onset generalized epilepsy"	"OMIM:619157"	"Neurodevelopmental disorder with or without early-onset generalized epilepsy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7648"	"NBEA"	"OMIM:619157"	"Neurodevelopmental disorder with or without early-onset generalized epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 07:30:51"	""	""	"28554332, 30269351"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NBEA0Seizures0ID0ASD"	"2023-11-30"
"GENCC_000106-HGNC_7706-OMIM_619170-HP_0000005-GENCC_100004"	"HGNC:7706"	"NDUFC2"	"MONDO:0030902"	"mitochondrial complex 1 deficiency, nuclear type 36"	"OMIM:619170"	"Mitochondrial complex I deficiency, nuclear type 36"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7706"	"NDUFC2"	"OMIM:619170"	"Mitochondrial complex I deficiency, nuclear type 36"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:59"	""	""	"32969598"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFC20NDUFC2rel"	"2023-11-30"
"GENCC_000106-HGNC_9538-OMIM_619175-HP_0000005-GENCC_100004"	"HGNC:9538"	"PSMB10"	"MONDO:0030924"	"proteasome-associated autoinflammatory syndrome 5"	"OMIM:619175"	"Proteasome-associated autoinflammatory syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9538"	"PSMB10"	"OMIM:619175"	"Proteasome-associated autoinflammatory syndrome 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:01"	""	""	"29947763, 31783057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSMB100PSMB10rel"	"2023-11-30"
"GENCC_000106-HGNC_6638-OMIM_619180-HP_0000006-GENCC_100002"	"HGNC:6638"	"LMNB2"	"MONDO:0030929"	"microcephaly 27, primary, autosomal dominant"	"OMIM:619180"	"Microcephaly 27, primary, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6638"	"LMNB2"	"OMIM:619180"	"Microcephaly 27, primary, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-22 12:39:04"	""	""	"33033404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMNB20Microcephaly"	"2023-11-30"
"GENCC_000106-HGNC_24929-OMIM_619183-HP_0000005-GENCC_100004"	"HGNC:24929"	"PSMG2"	"MONDO:0030931"	"proteasome-associated autoinflammatory syndrome 4"	"OMIM:619183"	"?Proteasome-associated autoinflammatory syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24929"	"PSMG2"	"OMIM:619183"	"?Proteasome-associated autoinflammatory syndrome 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-02-22 12:33:06"	""	""	"30664889"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSMG20CANDLE"	"2023-11-30"
"GENCC_000106-HGNC_19849-OMIM_619202-HP_0000005-GENCC_100004"	"HGNC:19849"	"C14orf39"	"MONDO:0030938"	"spermatogenic failure 52"	"OMIM:619202"	"Spermatogenic failure 52"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19849"	"C14orf39"	"OMIM:619202"	"Spermatogenic failure 52"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-06 21:14:19"	""	""	"33508233, 35305148"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C14orf390Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_7703-OMIM_618252-HP_0000005-GENCC_100004"	"HGNC:7703"	"NDUFB8"	"MONDO:0032635"	"mitochondrial complex 1 deficiency, nuclear type 32"	"OMIM:618252"	"Mitochondrial complex I deficiency, nuclear type 32"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7703"	"NDUFB8"	"OMIM:618252"	"mitochondrial complex 1 deficiency, nuclear type 32"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"1914514, 27290639, 29429471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFB80NDUFB8rel"	"2023-11-30"
"GENCC_000106-HGNC_7704-OMIM_618245-HP_0000005-GENCC_100004"	"HGNC:7704"	"NDUFB9"	"MONDO:0032628"	"mitochondrial complex 1 deficiency, nuclear type 24"	"OMIM:618245"	"?Mitochondrial complex I deficiency, nuclear type 24"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7704"	"NDUFB9"	"OMIM:618245"	"mitochondrial complex 1 deficiency, nuclear type 24"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-01-21 16:21:23"	""	""	"20818383, 22200994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFB90MC1def"	"2023-11-30"
"GENCC_000106-HGNC_19849-OMIM_619203-HP_0000005-GENCC_100004"	"HGNC:19849"	"C14orf39"	"MONDO:0030939"	"premature ovarian failure 18"	"OMIM:619203"	"?Premature ovarian failure 18"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19849"	"C14orf39"	"OMIM:619203"	"?Premature ovarian failure 18"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-07 19:07:03"	""	""	"33508233"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C14orf390POF"	"2023-11-30"
"GENCC_000106-HGNC_7708-OMIM_618228-HP_0000005-GENCC_100004"	"HGNC:7708"	"NDUFS2"	"MONDO:0032611"	"mitochondrial complex 1 deficiency, nuclear type 6"	"OMIM:618228"	"Mitochondrial complex I deficiency, nuclear type 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7708"	"NDUFS2"	"OMIM:618228"	"mitochondrial complex 1 deficiency, nuclear type 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-01-21 16:13:23"	""	""	"28031252"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFS20MitochondriOA"	"2023-11-30"
"GENCC_000106-HGNC_20390-OMIM_619221-HP_0000007-GENCC_100002"	"HGNC:20390"	"SQOR"	"MONDO:0030982"	"sulfide quinone oxidoreductase deficiency"	"OMIM:619221"	"Sulfide:quinone oxidoreductase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20390"	"SQOR"	"OMIM:619221"	"Sulfide:quinone oxidoreductase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:54:33"	""	""	"32160317"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SQRDL0SQRDLrel"	"2023-11-30"
"GENCC_000106-HGNC_7711-OMIM_252010-HP_0000007-GENCC_100002"	"HGNC:7711"	"NDUFS4"	"MONDO:0100224"	"mitochondrial complex I deficiency, nuclear type 1"	"OMIM:252010"	"Mitochondrial complex I deficiency, nuclear type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7711"	"NDUFS4"	"OMIM:252010"	"mitochondrial complex I deficiency, nuclear type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-26 10:05:07"	""	""	"10944442, 11181577, 16213125, 19107570, 22326555, 24231806, 29264396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFS40MC1def"	"2023-11-30"
"GENCC_000106-HGNC_7720-OMIM_256030-HP_0000007-GENCC_100002"	"HGNC:7720"	"NEB"	"MONDO:0009725"	"nemaline myopathy 2"	"OMIM:256030"	"Nemaline myopathy 2, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7720"	"NEB"	"OMIM:256030"	"nemaline myopathy 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-27 12:41:23"	""	""	"12207937, 16917880, 25205138, 25712079"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEB0NEM0Nemaline"	"2023-11-30"
"GENCC_000106-HGNC_29619-OMIM_619223-HP_0000005-GENCC_100004"	"HGNC:29619"	"MPEG1"	"MONDO:0030973"	"immunodeficiency 77"	"OMIM:619223"	"Immunodeficiency 77"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29619"	"MPEG1"	"OMIM:619223"	"Immunodeficiency 77"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-23 12:56:49"	""	""	"26038974, 26402460, 28422754, 31130284, 31785789, 33224153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MPEG10MPEG1rel"	"2023-11-30"
"GENCC_000106-HGNC_7739-OMIM_607734-HP_0000006-GENCC_100002"	"HGNC:7739"	"NEFL"	"MONDO:0011902"	"Charcot-Marie-Tooth disease type 1F"	"OMIM:607734"	"Charcot-Marie-Tooth disease, type 1F"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7739"	"NEFL"	"OMIM:607734"	"Charcot-Marie-Tooth disease type 1F"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:06:02"	""	""	"10841809, 12481988, 12566280, 15111691, 15884021, 162280, 17620486, 17881652, 21493625"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEFL0CMT"	"2023-11-30"
"GENCC_000106-HGNC_7744-OMIM_617892-HP_0000006-GENCC_100002"	"HGNC:7744"	"NEK1"	"MONDO:0054750"	"amyotrophic lateral sclerosis, susceptibility to, 24"	"OMIM:617892"	"{Amyotrophic lateral sclerosis, susceptibility to, 24}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7744"	"NEK1"	"OMIM:617892"	"amyotrophic lateral sclerosis, susceptibility to, 24"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-05 19:51:08"	""	""	"25700176, 26945885, 27455347, 28935222, 29149916, 29650794, 30093141, 32462798, 32920598, 35047667, 35426263, 35495032, 36443167"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEK10ALS"	"2023-11-30"
"GENCC_000106-HGNC_7745-OMIM_615565-HP_0000005-GENCC_100004"	"HGNC:7745"	"NEK2"	"MONDO:0014256"	"retinitis pigmentosa 67"	"OMIM:615565"	"?Retinitis pigmentosa 67"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7745"	"NEK2"	"OMIM:615565"	"retinitis pigmentosa 67"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-26 10:12:41"	""	""	"24043777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEK20RP"	"2023-11-30"
"GENCC_000106-HGNC_13387-OMIM_613824-HP_0000007-GENCC_100002"	"HGNC:13387"	"NEK8"	"MONDO:0013444"	"nephronophthisis 9"	"OMIM:613824"	"?Nephronophthisis 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13387"	"NEK8"	"OMIM:613824"	"nephronophthisis 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"23418306, 26862157, 26967905, 36215968"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEK80Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_18591-OMIM_617022-HP_0000007-GENCC_100002"	"HGNC:18591"	"NEK9"	"MONDO:0014870"	"NEK9-related lethal skeletal dysplasia"	"OMIM:617022"	"Lethal congenital contracture syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18591"	"NEK9"	"OMIM:617022"	"NEK9-related lethal skeletal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:49:16"	""	""	"21271645, 26633546, 26908619, 29096039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEK90LethalCongCont"	"2023-11-30"
"GENCC_000106-HGNC_7763-OMIM_618374-HP_0000006-GENCC_100002"	"HGNC:7763"	"NEUROD2"	"MONDO:0032710"	"developmental and epileptic encephalopathy, 72"	"OMIM:618374"	"Developmental and epileptic encephalopathy 72"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7763"	"NEUROD2"	"OMIM:618374"	"developmental and epileptic encephalopathy, 72"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-16 17:42:31"	""	""	"16504944, 25250690, 30323019, 31487502, 36446697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEUROD20NEUROD2rel"	"2023-11-30"
"GENCC_000106-HGNC_29433-OMIM_300912-HP_0001417-GENCC_100002"	"HGNC:29433"	"NEXMIF"	"MONDO:0010483"	"X-linked intellectual disability, Cantagrel type"	"OMIM:300912"	"Intellectual developmental disorder, X-linked 98"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:29433"	"NEXMIF"	"OMIM:300912"	"X-linked intellectual disability, Cantagrel type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-17 13:53:10"	""	""	"15466006, 23615299, 24307393, 25473036, 25590979, 25900396, 26576034, 27358180, 27568816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIAA20220ID"	"2023-11-30"
"GENCC_000106-HGNC_29557-OMIM_613122-HP_0000006-GENCC_100004"	"HGNC:29557"	"NEXN"	"MONDO:0013147"	"dilated cardiomyopathy 1CC"	"OMIM:613122"	"Cardiomyopathy, dilated, 1CC"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29557"	"NEXN"	"OMIM:613122"	"Cardiomyopathy, dilated, 1CC"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-10 13:35:27"	""	""	"19881492, 20970104, 24503780, 25163546, 28416588, 29540472, 31983221, 32041989, 32814711, 32870709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEXN0DCM"	"2023-11-30"
"GENCC_000106-HGNC_29557-OMIM_613876-HP_0000006-GENCC_100004"	"HGNC:29557"	"NEXN"	"MONDO:0013477"	"hypertrophic cardiomyopathy 20"	"OMIM:613876"	"Cardiomyopathy, hypertrophic, 20"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29557"	"NEXN"	"OMIM:613876"	"hypertrophic cardiomyopathy 20"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-18 13:08:25"	""	""	"20970104, 28640247, 28790153, 30415094, 32344918, 33297573"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NEXN0HCM"	"2023-11-30"
"GENCC_000106-HGNC_7765-OMIM_162200-HP_0000006-GENCC_100002"	"HGNC:7765"	"NF1"	"MONDO:0018975"	"neurofibromatosis type 1"	"OMIM:162200"	"Neurofibromatosis, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7765"	"NF1"	"OMIM:162200"	"neurofibromatosis type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 22:25:23"	""	""	"10712197, 16786042, 16861979, 17369502, 20833335, 22965642, 23119102, 23165953, 23257896, 23913538, 25130111, 25742481, 26926675, 27931045, 30006586, 30287823, 32655935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NF10NF1"	"2023-11-30"
"GENCC_000106-HGNC_3050-OMIM_619226-HP_0000005-GENCC_100004"	"HGNC:3050"	"DSG3"	"MONDO:0030986"	"blistering, acantholytic, of oral and laryngeal mucosa"	"OMIM:619226"	"Blistering, acantholytic, of oral and laryngeal mucosa"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3050"	"DSG3"	"OMIM:619226"	"Blistering, acantholytic, of oral and laryngeal mucosa"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-11 10:43:08"	""	""	"30528827, 9166409"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DSG30OralBlisters"	"2023-11-30"
"GENCC_000106-HGNC_7788-OMIM_614753-HP_0000006-GENCC_100002"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan overgrowth syndrome"	"OMIM:614753"	"Malan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7788"	"NFIX"	"OMIM:614753"	"Malan overgrowth syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 18:17:18"	""	""	"17353270, 20673863, 20949508, 22301465, 25118028, 26200704"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFIX0Sotos"	"2023-11-30"
"GENCC_000106-HGNC_7795-OMIM_615577-HP_0000006-GENCC_100002"	"HGNC:7795"	"NFKB2"	"MONDO:0014260"	"immunodeficiency, common variable, 10"	"OMIM:615577"	"Immunodeficiency, common variable, 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7795"	"NFKB2"	"OMIM:615577"	"immunodeficiency, common variable, 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-30 20:37:29"	""	""	"17072328, 18025196, 24140114, 25524009, 28778864, 30863427, 30941118, 9314550"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFKB20CVID"	"2023-11-30"
"GENCC_000106-HGNC_7808-OMIM_608654-HP_0000006-GENCC_100004"	"HGNC:7808"	"NGF"	"MONDO:0012092"	"hereditary sensory and autonomic neuropathy type 5"	"OMIM:608654"	"Neuropathy, hereditary sensory and autonomic, type V"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7808"	"NGF"	"OMIM:608654"	"hereditary sensory and autonomic neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"18420729, 19183217, 20978020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NGF0HSAN02"	"2023-11-30"
"GENCC_000106-HGNC_7818-OMIM_619755-HP_0000005-GENCC_100004"	"HGNC:7818"	"NHLH2"	"MONDO:0030684"	"hypogonadotropic hypogonadism 27 without anosmia"	"OMIM:619755"	"?Hypogonadotropic hypogonadism 27 without anosmia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7818"	"NHLH2"	"OMIM:619755"	"?Hypogonadotropic hypogonadism 27 without anosmia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-02-22 13:32:35"	""	""	"35066646, 9090387, 34494548"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NHLH20IHH"	"2023-11-30"
"GENCC_000106-HGNC_24731-OMIM_618278-HP_0000007-GENCC_100002"	"HGNC:24731"	"NHLRC2"	"MONDO:0032651"	"fibrosis, neurodegeneration, and cerebral angiomatosis"	"OMIM:618278"	"FINCA syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24731"	"NHLRC2"	"OMIM:618278"	"fibrosis, neurodegeneration, and cerebral angiomatosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 21:07:56"	""	""	"29302074, 29423877, 30239752, 37188825"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NHLRC20FINCAsyn"	"2023-11-30"
"GENCC_000106-HGNC_7820-OMIM_302350-HP_0001417-GENCC_100002"	"HGNC:7820"	"NHS"	"MONDO:0010545"	"Nance-Horan syndrome"	"OMIM:302350"	"Nance-Horan syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:7820"	"NHS"	"OMIM:302350"	"Nance-Horan syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 11:15:00"	""	""	"14564667, 15623749, 19414485"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NHS0NanceHoran"	"2023-11-30"
"GENCC_000106-HGNC_14906-OMIM_614851-HP_0000005-GENCC_100004"	"HGNC:14906"	"NIN"	"MONDO:0013922"	"Seckel syndrome 7"	"OMIM:614851"	"?Seckel syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14906"	"NIN"	"OMIM:614851"	"Seckel syndrome 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"22933543, 23665482, 25363768, 28135719, 28991257, 29868112"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NIN0NINrel"	"2023-11-30"
"GENCC_000106-HGNC_29873-OMIM_301039-HP_0001417-GENCC_100002"	"HGNC:29873"	"NKAP"	"MONDO:0026733"	"intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type"	"OMIM:301039"	"Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:29873"	"NKAP"	"OMIM:301039"	"intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:53"	""	""	"31587868"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NKAP0NKAPrel"	"2023-11-30"
"GENCC_000106-HGNC_11825-OMIM_610978-HP_0000006-GENCC_100002"	"HGNC:11825"	"NKX2-1"	"MONDO:0012593"	"brain-lung-thyroid syndrome"	"OMIM:610978"	"Choreoathetosis, hypothyroidism, and neonatal respiratory distress"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11825"	"NKX2-1"	"OMIM:610978"	"brain-lung-thyroid syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:56:09"	""	""	"11854319, 23430038, 24555207, 24714694"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NKX2-10NKX2-1rel"	"2023-11-30"
"GENCC_000106-HGNC_2488-OMIM_108900-HP_0000006-GENCC_100002"	"HGNC:2488"	"NKX2-5"	"MONDO:0007173"	"atrial septal defect 7"	"OMIM:108900"	"Atrial septal defect 7, with or without AV conduction defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2488"	"NKX2-5"	"OMIM:108900"	"atrial septal defect 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 22:49:09"	""	""	"15810002, 15917268, 17891520, 20456451, 9651244"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NKX2-50CongenitalHeart"	"2023-11-30"
"GENCC_000106-HGNC_2488-OMIM_225250-HP_0000005-GENCC_100004"	"HGNC:2488"	"NKX2-5"	"MONDO:0009154"	"hypothyroidism, congenital, nongoitrous, 5"	"OMIM:225250"	"Hypothyroidism, congenital nongoitrous, 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2488"	"NKX2-5"	"OMIM:225250"	"hypothyroidism, congenital, nongoitrous, 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-24 11:37:11"	""	""	"16418214, 21450989, 28455095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NKX2-50Hypothy"	"2023-11-30"
"GENCC_000106-HGNC_2488-OMIM_217095-HP_0000006-GENCC_100002"	"HGNC:2488"	"NKX2-5"	"MONDO:0016581"	"conotruncal heart malformations"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2488"	"NKX2-5"	"OMIM:217095"	"conotruncal heart malformations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-30 14:27:00"	""	""	"17891520, 20456451"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NKX2-50SyndStructHeart"	"2023-11-30"
"GENCC_000106-HGNC_14291-OMIM_618830-HP_0000005-GENCC_100004"	"HGNC:14291"	"NLGN1"	"MONDO:0030004"	"autism, susceptibility to, 20"	"OMIM:618830"	"{Autism, susceptibility to, 20}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14291"	"NLGN1"	"OMIM:618830"	"autism, susceptibility to, 20"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-06-02 14:41:42"	""	""	"23375656, 25621899, 28649445, 28841651, 28972980, 30460678"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLGN10ASD"	"2023-11-30"
"GENCC_000106-HGNC_14289-OMIM_300425-HP_0000005-GENCC_100004"	"HGNC:14289"	"NLGN3"	"MONDO:0010321"	"autism, susceptibility to, X-linked 1"	"OMIM:300425"	"{Autism susceptibility, X-linked 1}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14289"	"NLGN3"	"OMIM:300425"	"autism, susceptibility to, X-linked 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:56"	""	""	"12669065, 15152050, 16434405, 21808020, 23849776, 24362370, 24570023, 25167861, 26583067, 28263302, 31184401, 32848696, 33726816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLGN30ASD"	"2023-11-30"
"GENCC_000106-HGNC_16412-OMIM_616115-HP_0000006-GENCC_100002"	"HGNC:16412"	"NLRC4"	"MONDO:0014498"	"familial cold autoinflammatory syndrome 4"	"OMIM:616115"	"?Familial cold autoinflammatory syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16412"	"NLRC4"	"OMIM:616115"	"?Familial cold autoinflammatory syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 17:30:26"	""	""	"25385754"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRC40FamColdAutoInf"	"2023-11-30"
"GENCC_000106-HGNC_14374-OMIM_617388-HP_0000007-GENCC_100002"	"HGNC:14374"	"NLRP1"	"MONDO:0060457"	"autoinflammation with arthritis and dyskeratosis"	"OMIM:617388"	"Autoinflammation with arthritis and dyskeratosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14374"	"NLRP1"	"OMIM:617388"	"autoinflammation with arthritis and dyskeratosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-21 08:12:39"	""	""	"27662089, 27965258, 31484767, 36763876"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRP10NLRP1syn"	"2023-11-30"
"GENCC_000106-HGNC_14374-OMIM_615225-HP_0000006-GENCC_100002"	"HGNC:14374"	"NLRP1"	"MONDO:0014089"	"corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	"OMIM:615225"	"Palmoplantar carcinoma, multiple self-healing"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14374"	"NLRP1"	"OMIM:615225"	"corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 17:33:14"	""	""	"27662089, 31484767"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRP10NLRP1syn02"	"2023-11-30"
"GENCC_000106-HGNC_1678-OMIM_619238-HP_0000005-GENCC_100004"	"HGNC:1678"	"CD4"	"MONDO:0030981"	"immunodeficiency 79"	"OMIM:619238"	"Immunodeficiency 79"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1678"	"CD4"	"OMIM:619238"	"Immunodeficiency 79"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-06 18:34:59"	""	""	"31781092, 33471124"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CD40Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_16400-OMIM_607115-HP_0000006-GENCC_100002"	"HGNC:16400"	"NLRP3"	"MONDO:0011776"	"CINCA syndrome"	"OMIM:607115"	"CINCA syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16400"	"NLRP3"	"OMIM:607115"	"CINCA syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-05 10:13:56"	""	""	"14630794, 16447225, 20506209, 21702021, 26931528"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRP30CyropyrinPeriod"	"2023-11-30"
"GENCC_000106-HGNC_2200-OMIM_619248-HP_0000005-GENCC_100004"	"HGNC:2200"	"COL2A1"	"MONDO:0031001"	"vitreoretinopathy with phalangeal epiphyseal dysplasia"	"OMIM:619248"	"?Vitreoretinopathy with phalangeal epiphyseal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2200"	"COL2A1"	"OMIM:619248"	"?Vitreoretinopathy with phalangeal epiphyseal dysplasia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-06 18:38:27"	""	""	"11812423, 12205109"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COL2A10Vitreoretinop"	"2023-11-30"
"GENCC_000106-HGNC_7853-OMIM_620032-HP_0000005-GENCC_100004"	"HGNC:7853"	"NME5"	"MONDO:0031054"	"ciliary dyskinesia, primary, 48, without situs inversus"	"OMIM:620032"	"Ciliary dyskinesia, primary, 48, without situs inversus"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7853"	"NME5"	"OMIM:620032"	"ciliary dyskinesia, primary, 48, without situs inversus"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-05 06:59:04"	""	""	"32185794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NME50NME5rel"	"2023-11-30"
"GENCC_000106-HGNC_17877-OMIM_619260-HP_0000007-GENCC_100004"	"HGNC:17877"	"NMNAT1"	"MONDO:0031007"	"spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis"	"OMIM:619260"	"Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17877"	"NMNAT1"	"OMIM:619260"	"Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-26 13:45:55"	""	""	"32533184, 33668384"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NMNAT10SHILCA"	"2023-11-30"
"GENCC_000106-HGNC_5331-OMIM_266600-HP_0000005-GENCC_100004"	"HGNC:5331"	"NOD2"	"MONDO:0009960"	"inflammatory bowel disease 1"	"OMIM:266600"	"{Inflammatory bowel disease 1, Crohn disease}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:5331"	"NOD2"	"OMIM:266600"	"{Crohn disease-associated growth failure}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-01-15 16:14:35"	""	""	"11875755, 12210321, 17131470, 17941079"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOD20IBD"	"2023-11-30"
"GENCC_000106-HGNC_2231-OMIM_619255-HP_0000005-GENCC_100004"	"HGNC:2231"	"COPB1"	"MONDO:0031002"	"Baralle-Macken syndrome"	"OMIM:619255"	"Baralle-Macken syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2231"	"COPB1"	"OMIM:619255"	"Baralle-Macken syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:54:32"	""	""	"33632302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COPB10Baralle-Macken"	"2023-11-30"
"GENCC_000106-HGNC_7866-OMIM_186500-HP_0000006-GENCC_100002"	"HGNC:7866"	"NOG"	"MONDO:0008519"	"multiple synostoses syndrome 1"	"OMIM:186500"	"Multiple synostoses syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7866"	"NOG"	"OMIM:186500"	"multiple synostoses syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 09:54:09"	""	""	"11846737, 12089654, 15699718, 16598734, 21538686, 27508084, 31428484"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOG0NOG-SSD"	"2023-11-30"
"GENCC_000106-HGNC_14378-OMIM_224230-HP_0000007-GENCC_100002"	"HGNC:14378"	"NOP10"	"MONDO:0009136"	"dyskeratosis congenita, autosomal recessive 1"	"OMIM:224230"	"?Dyskeratosis congenita, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14378"	"NOP10"	"OMIM:224230"	"dyskeratosis congenita, autosomal recessive 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"17507419, 20008900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOP100DKC"	"2023-11-30"
"GENCC_000106-HGNC_25551-OMIM_619268-HP_0000007-GENCC_100002"	"HGNC:25551"	"SMG8"	"MONDO:0859136"	"Alzahrani-Kuwahara syndrome"	"OMIM:619268"	"Alzahrani-Kuwahara syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25551"	"SMG8"	"OMIM:619268"	"Alzahrani-Kuwahara syndrom"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-18 14:21:04"	""	""	"31028937, 31130284, 33242396, 34761517, 37194129"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMG80SMG8rel"	"2023-11-30"
"GENCC_000106-HGNC_7692-OMIM_619272-HP_0000005-GENCC_100004"	"HGNC:7692"	"NDUFA8"	"MONDO:0030997"	"mitochondrial complex 1 deficiency, nuclear type 37"	"OMIM:619272"	"Mitochondrial complex I deficiency, nuclear type 37"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7692"	"NDUFA8"	"OMIM:619272"	"Mitochondrial complex I deficiency, nuclear type 37"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-22 19:27:32"	""	""	"15576045, 20818383, 27626380, 32385911, 33153867"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NDUFA80CIdef"	"2023-11-30"
"GENCC_000106-HGNC_15911-OMIM_614153-HP_0000006-GENCC_100002"	"HGNC:15911"	"NOP56"	"MONDO:0013594"	"spinocerebellar ataxia type 36"	"OMIM:614153"	"Spinocerebellar ataxia 36"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15911"	"NOP56"	"OMIM:614153"	"spinocerebellar ataxia type 36"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:29"	""	""	"21683323, 22492559, 22753339, 27123487, 28761930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOP560SCA"	"2023-11-30"
"GENCC_000106-HGNC_7881-OMIM_616028-HP_0000006-GENCC_100002"	"HGNC:7881"	"NOTCH1"	"MONDO:0014459"	"Adams-Oliver syndrome 5"	"OMIM:616028"	"Adams-Oliver syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7881"	"NOTCH1"	"OMIM:616028"	"Adams-Oliver syndrome 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-21 21:57:48"	""	""	"16025100, 21457232, 25132448, 25963545, 29392406, 29924900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOTCH10AdamsOliver"	"2023-11-30"
"GENCC_000106-HGNC_7882-OMIM_610205-HP_0000006-GENCC_100002"	"HGNC:7882"	"NOTCH2"	"MONDO:0012439"	"Alagille syndrome due to a NOTCH2 point mutation"	"OMIM:610205"	"Alagille syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7882"	"NOTCH2"	"OMIM:610205"	"Alagille syndrome due to a NOTCH2 point mutation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 09:22:56"	""	""	"11171333, 16773578, 18245384, 22209762, 28776642, 31343788"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOTCH20Alagille"	"2023-11-30"
"GENCC_000106-HGNC_7883-OMIM_125310-HP_0000006-GENCC_100002"	"HGNC:7883"	"NOTCH3"	"MONDO:0000914"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"	"OMIM:125310"	"Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7883"	"NOTCH3"	"OMIM:125310"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-23 23:59:51"	""	""	"11486103, 11571335, 12482954, 15210536, 15364702, 16864835, 19153638, 22623959, 23151434, 23572112, 24000151, 24277202, 24425116, 24844136, 25260852, 25394726, 25870235, 28710804, 30855338, 32122318, 35302383"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOTCH30CADASIL"	"2023-11-30"
"GENCC_000106-HGNC_7905-OMIM_256100-HP_0000007-GENCC_100002"	"HGNC:7905"	"NPHP1"	"MONDO:0009728"	"nephronophthisis 1"	"OMIM:256100"	"Nephronophthisis 1, juvenile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7905"	"NPHP1"	"OMIM:256100"	"nephronophthisis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 23:29:15"	""	""	"23559409"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPHP10Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_7907-OMIM_604387-HP_0000007-GENCC_100002"	"HGNC:7907"	"NPHP3"	"MONDO:0011456"	"nephronophthisis 3"	"OMIM:604387"	"Nephronophthisis 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7907"	"NPHP3"	"OMIM:604387"	"nephronophthisis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-18 16:22:38"	""	""	"12872122, 18371931, 21866095, 23559409, 23686967, 27491411, 36253741"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPHP30Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_19104-OMIM_606966-HP_0000007-GENCC_100002"	"HGNC:19104"	"NPHP4"	"MONDO:0011752"	"nephronophthisis 4"	"OMIM:606966"	"Nephronophthisis 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19104"	"NPHP4"	"OMIM:606966"	"nephronophthisis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:48"	""	""	"18076122, 21866095, 23559409, 29801666"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPHP40Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_19104-OMIM_606996-HP_0000007-GENCC_100002"	"HGNC:19104"	"NPHP4"	"MONDO:0011756"	"Senior-Loken syndrome 4"	"OMIM:606996"	"Senior-Loken syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19104"	"NPHP4"	"OMIM:606996"	"Senior-Loken syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-04 13:49:26"	""	""	"12205563, 21866095, 23188109, 27208209"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPHP40SeniorLoken"	"2023-11-30"
"GENCC_000106-HGNC_7939-OMIM_612201-HP_0000005-GENCC_100004"	"HGNC:7939"	"NPPA"	"MONDO:0012816"	"atrial fibrillation, familial, 6"	"OMIM:612201"	"Atrial fibrillation, familial, 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7939"	"NPPA"	"OMIM:612201"	"atrial fibrillation, familial, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-11 07:24:57"	""	""	"18614783, 19458086, 19646991, 19729120, 20064500, 22818067, 31034774, 31077706, 33950154"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPPA0Afib"	"2023-11-30"
"GENCC_000106-HGNC_7944-OMIM_602875-HP_0000007-GENCC_100002"	"HGNC:7944"	"NPR2"	"MONDO:0011275"	"acromesomelic dysplasia 1, Maroteaux type"	"OMIM:602875"	"Acromesomelic dysplasia 1, Maroteaux type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7944"	"NPR2"	"OMIM:602875"	"acromesomelic dysplasia 1, Maroteaux type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-17 13:37:10"	""	""	"15146390"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPR20AcromesomDys"	"2023-11-30"
"GENCC_000106-HGNC_7944-OMIM_615923-HP_0000006-GENCC_100002"	"HGNC:7944"	"NPR2"	"MONDO:0014401"	"tall stature-scoliosis-macrodactyly of the great toes syndrome"	"OMIM:615923"	"Epiphyseal chondrodysplasia, Miura type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7944"	"NPR2"	"OMIM:615923"	"tall stature-scoliosis-macrodactyly of the great toes syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-17 13:46:19"	""	""	"22870295, 23827346, 24057292, 24259409"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPR20EpiphysChondro"	"2023-11-30"
"GENCC_000106-HGNC_7944-OMIM_616255-HP_0000006-GENCC_100002"	"HGNC:7944"	"NPR2"	"MONDO:0014551"	"short stature with nonspecific skeletal abnormalities"	"OMIM:616255"	"Short stature with nonspecific skeletal abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7944"	"NPR2"	"OMIM:616255"	"short stature with nonspecific skeletal abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-04 21:52:27"	""	""	"15146390, 16384845, 24001744, 24471569, 31960617, 31990356, 32720985, 33205215"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPR20ShortStature"	"2023-11-30"
"GENCC_000106-HGNC_7945-OMIM_619543-HP_0000007-GENCC_100002"	"HGNC:7945"	"NPR3"	"MONDO:0859194"	"Boudin-Mortier syndrome"	"OMIM:619543"	"Boudin-Mortier syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7945"	"NPR3"	"OMIM:619543"	"Boudin-Mortier syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-11 18:53:22"	""	""	"30032985"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPR30NPR3rel"	"2023-11-30"
"GENCC_000106-HGNC_31042-OMIM_619274-HP_0000006-GENCC_100004"	"HGNC:31042"	"GREB1L"	"MONDO:0030998"	"hearing loss, autosomal dominant 80"	"OMIM:619274"	"Deafness, autosomal dominant 80"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31042"	"GREB1L"	"OMIM:619274"	"Deafness, autosomal dominant 80"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-11-17 10:48:05"	""	""	"29955957, 32585897"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GREB1L0InnerEarMalform"	"2023-11-30"
"GENCC_000106-HGNC_2377-OMIM_619286-HP_0000007-GENCC_100002"	"HGNC:2377"	"MED27"	"MONDO:0859137"	"neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia"	"OMIM:619286"	"Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2377"	"MED27"	"OMIM:619286"	"Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-01 14:12:05"	""	""	"33443317"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED270CerebellarHypo"	"2023-11-30"
"GENCC_000106-HGNC_7974-OMIM_611131-HP_0000007-GENCC_100004"	"HGNC:7974"	"NR2E3"	"MONDO:0012625"	"retinitis pigmentosa 37"	"OMIM:611131"	"Retinitis pigmentosa 37"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7974"	"NR2E3"	"OMIM:611131"	"retinitis pigmentosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-19 12:32:30"	""	""	"11071390, 18294254, 21217109, 22605927, 27032803"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RP0NR2E3"	"2023-11-30"
"GENCC_000106-HGNC_7976-OMIM_615779-HP_0000006-GENCC_100002"	"HGNC:7976"	"NR2F2"	"MONDO:0014344"	"congenital heart defects, multiple types, 4"	"OMIM:615779"	"Congenital heart defects, multiple types, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7976"	"NR2F2"	"OMIM:615779"	"congenital heart defects, multiple types, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 13:39:51"	""	""	"10215630, 24702954, 26633542, 29089047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR2F20SyndStructHeart"	"2023-11-30"
"GENCC_000106-HGNC_7979-OMIM_605115-HP_0000005-GENCC_100004"	"HGNC:7979"	"NR3C2"	"MONDO:0011517"	"pseudohyperaldosteronism type 2"	"OMIM:605115"	"Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7979"	"NR3C2"	"OMIM:605115"	"Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-29 13:44:25"	""	""	"10884226, 20855654"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR3C20Hyperten02"	"2023-11-30"
"GENCC_000106-HGNC_7979-OMIM_177735-HP_0000006-GENCC_100002"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"OMIM:177735"	"Pseudohypoaldosteronism type I, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7979"	"NR3C2"	"OMIM:177735"	"autosomal dominant pseudohypoaldosteronism type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 09:37:28"	""	""	"16611713, 16972228, 17287415, 27780983, 9662404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR3C20PHA"	"2023-11-30"
"GENCC_000106-HGNC_7981-OMIM_619911-HP_0000006-GENCC_100002"	"HGNC:7981"	"NR4A2"	"MONDO:0859257"	"intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism"	"OMIM:619911"	"Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7981"	"NR4A2"	"OMIM:619911"	"Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-01 17:40:22"	""	""	"22495309, 25363768, 27569545, 28191890, 28333917, 28544326, 29770430, 30504930, 31428396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NR4A20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_4192-OMIM_619290-HP_0000005-GENCC_100004"	"HGNC:4192"	"GCGR"	"MONDO:0018582"	"GCGR-related hyperglucagonemia"	"OMIM:619290"	"Mahvash disease"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4192"	"GCGR"	"OMIM:619290"	"Mahvash disease"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-07 08:29:06"	""	""	"12552113, 19657311, 25914784, 27933176, 30032256, 30170980, 30294546"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCGR0GCGRrel"	"2023-11-30"
"GENCC_000106-HGNC_14121-OMIM_619310-HP_0000005-GENCC_100004"	"HGNC:14121"	"POLR3K"	"MONDO:0030263"	"leukodystrophy, hypomyelinating, 21"	"OMIM:619310"	"Leukodystrophy, hypomyelinating, 21"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14121"	"POLR3K"	"OMIM:619310"	"Leukodystrophy, hypomyelinating, 21"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-11 12:41:02"	""	""	"30584594"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR3K0POLR3Krel"	"2023-11-30"
"GENCC_000106-HGNC_18043-OMIM_619313-HP_0000007-GENCC_100004"	"HGNC:18043"	"MCM10"	"MONDO:0030266"	"immunodeficiency 80 with or without congenital cardiomyopathy"	"OMIM:619313"	"Immunodeficiency 80 with or without cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18043"	"MCM10"	"OMIM:619313"	"Immunodeficiency 80 with or without cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-17 11:52:04"	""	""	"32865517, 33712616"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MCM100MCM10rel"	"2023-11-30"
"GENCC_000106-HGNC_10857-OMIM_619314-HP_0000006-GENCC_100002"	"HGNC:10857"	"SIAH1"	"MONDO:0859144"	"Buratti-Harel syndrome"	"OMIM:619314"	"Buratti-Harel syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10857"	"SIAH1"	"OMIM:619314"	"Buratti-Harel syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 07:13:53"	""	""	"28191890, 28600779, 32430360"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIAH10SIAH1rel"	"2023-11-30"
"GENCC_000106-HGNC_11182-OMIM_619318-HP_0000007-GENCC_100002"	"HGNC:11182"	"CAPN15"	"MONDO:0036189"	"oculogastrointestinal-neurodevelopmental syndrome"	"OMIM:619318"	"Oculogastrointestinal neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11182"	"CAPN15"	"OMIM:619318"	"Oculogastrointestinal neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 18:34:21"	""	""	"32885237, 33410501"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAPN150DDCMEA"	"2023-11-30"
"GENCC_000106-HGNC_8008-OMIM_614332-HP_0000006-GENCC_100002"	"HGNC:8008"	"NRXN1"	"MONDO:0013696"	"chromosome 2p16.3 deletion syndrome"	"OMIM:614332"	"{Schizophrenia, susceptibility to, 17}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8008"	"NRXN1"	"OMIM:614332"	"{Schizophrenia, susceptibility to, 17}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 18:46:18"	""	""	"20162629, 22617343, 23495017, 23533028, 25614873, 30031152, 30358070, 30873608"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRXN10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_8008-OMIM_614325-HP_0000007-GENCC_100002"	"HGNC:8008"	"NRXN1"	"MONDO:0013690"	"Pitt-Hopkins-like syndrome 2"	"OMIM:614325"	"Pitt-Hopkins-like syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8008"	"NRXN1"	"OMIM:614325"	"Pitt-Hopkins-like syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-16 13:46:46"	""	""	"19896112, 20468056, 21964664, 24126932, 25149956"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRXN10PittHopkins"	"2023-11-30"
"GENCC_000106-HGNC_1850-OMIM_619319-HP_0000006-GENCC_100002"	"HGNC:1850"	"CELSR1"	"MONDO:0030270"	"lymphatic malformation 9"	"OMIM:619319"	"Lymphatic malformation 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1850"	"CELSR1"	"OMIM:619319"	"Lymphatic malformation 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-02 18:27:57"	""	""	"26855770, 31215153, 31403174"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CELSR10Lymph"	"2023-11-30"
"GENCC_000106-HGNC_8032-OMIM_613886-HP_0000006-GENCC_100002"	"HGNC:8032"	"NTRK2"	"MONDO:0013483"	"obesity, hyperphagia, and developmental delay"	"OMIM:613886"	"Obesity, hyperphagia, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8032"	"NTRK2"	"OMIM:613886"	"obesity, hyperphagia, and developmental delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 06:41:15"	""	""	"15494731, 23512795, 25348648, 27884935, 28968898, 29100083, 29693535, 30242240"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NTRK20?Obesity"	"2023-11-30"
"GENCC_000106-HGNC_29136-OMIM_619320-HP_0000006-GENCC_100002"	"HGNC:29136"	"KDM4B"	"MONDO:0023657"	"intellectual developmental disorder, autosomal dominant 65"	"OMIM:619320"	"Intellectual developmental disorder, autosomal dominant 65"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29136"	"KDM4B"	"OMIM:619320"	"Intellectual developmental disorder, autosomal dominant 65"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-20 11:57:28"	""	""	"27257017, 28407358, 29844188, 33232677"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KDM4B0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_29183-OMIM_619323-HP_0000007-GENCC_100002"	"HGNC:29183"	"TBC1D2B"	"MONDO:0859148"	"neurodevelopmental disorder with seizures and gingival overgrowth"	"OMIM:619323"	"Neurodevelopmental disorder with seizures and gingival overgrowth"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29183"	"TBC1D2B"	"OMIM:619323"	"Neurodevelopmental disorder with seizures and gingival overgrowth"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-01 19:33:21"	""	""	"25363768, 27694994, 32623794, 36029130"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBC1D2B0TBC1D2Brel"	"2023-11-30"
"GENCC_000106-HGNC_29914-OMIM_618348-HP_0000007-GENCC_100002"	"HGNC:29914"	"NUP107"	"MONDO:0032692"	"Galloway-Mowat syndrome 7"	"OMIM:618348"	"Galloway-Mowat syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29914"	"NUP107"	"OMIM:618348"	"Galloway-Mowat syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:03"	""	""	"242652, 250664, 25558065, 28135719, 28280135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1070Galloway"	"2023-11-30"
"GENCC_000106-HGNC_29914-OMIM_616730-HP_0000007-GENCC_100002"	"HGNC:29914"	"NUP107"	"MONDO:0014752"	"nephrotic syndrome, type 11"	"OMIM:616730"	"Nephrotic syndrome, type 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29914"	"NUP107"	"OMIM:616730"	"nephrotic syndrome, type 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"250606, 251334, 27190346, 30179222"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1070NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_29914-OMIM_618078-HP_0000007-GENCC_100002"	"HGNC:29914"	"NUP107"	"MONDO:0054850"	"ovarian dysgenesis 6"	"OMIM:618078"	"?Ovarian dysgenesis 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29914"	"NUP107"	"OMIM:618078"	"ovarian dysgenesis 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:06"	""	""	"250980, 251102, 26485283, 279362, 282208, 282440, 29363275, 30924587"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1070OvarianDys"	"2023-11-30"
"GENCC_000106-HGNC_18016-OMIM_618349-HP_0000005-GENCC_100004"	"HGNC:18016"	"NUP133"	"MONDO:0032693"	"Galloway-Mowat syndrome 8"	"OMIM:618349"	"?Galloway-Mowat syndrome 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18016"	"NUP133"	"OMIM:618349"	"Galloway-Mowat syndrome 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-29 08:47:51"	""	""	"30427554"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1330Galloway"	"2023-11-30"
"GENCC_000106-HGNC_18016-OMIM_618177-HP_0000005-GENCC_100004"	"HGNC:18016"	"NUP133"	"MONDO:0032581"	"nephrotic syndrome, type 18"	"OMIM:618177"	"Nephrotic syndrome, type 18"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18016"	"NUP133"	"OMIM:618177"	"Nephrotic syndrome, type 18"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:12"	""	""	"30179222"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1330SRNS"	"2023-11-30"
"GENCC_000106-HGNC_17859-OMIM_618804-HP_0000005-GENCC_100004"	"HGNC:17859"	"NUP188"	"MONDO:0032926"	"sandestig-stefanova syndrome"	"OMIM:618804"	"Sandestig-Stefanova syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17859"	"NUP188"	"OMIM:618804"	"sandestig-stefanova syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-08 06:31:06"	""	""	"21282601, 25363768, 28191890, 28425981, 28611029, 28726809"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP1880NUP188rel"	"2023-11-30"
"GENCC_000106-HGNC_17359-OMIM_620427-HP_0000005-GENCC_100004"	"HGNC:17359"	"NUP54"	"MONDO:0957385"	"dystonia 37, early-onset, with striatal lesions"	"OMIM:620427"	"Dystonia 37, early-onset, with striatal lesions"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17359"	"NUP54"	"OMIM:620427"	"Dystonia 37, early-onset, with striatal lesions"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 15:14:56"	""	""	"36333996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP540Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_8066-OMIM_271930-HP_0000005-GENCC_100004"	"HGNC:8066"	"NUP62"	"MONDO:0010080"	"familial infantile bilateral striatal necrosis"	"OMIM:271930"	"Striatonigral degeneration, infantile"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8066"	"NUP62"	"OMIM:271930"	"familial infantile bilateral striatal necrosis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"16786527"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP620Striaton02"	"2023-11-30"
"GENCC_000106-HGNC_8734-OMIM_618176-HP_0000007-GENCC_100002"	"HGNC:8734"	"NUP85"	"MONDO:0032580"	"nephrotic syndrome, type 17"	"OMIM:618176"	"Nephrotic syndrome, type 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8734"	"NUP85"	"OMIM:618176"	"nephrotic syndrome, type 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"30179222"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUP850NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_18008-OMIM_618529-HP_0000007-GENCC_100002"	"HGNC:18008"	"NXN"	"MONDO:0032800"	"robinow syndrome, autosomal recessive 2"	"OMIM:618529"	"Robinow syndrome, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18008"	"NXN"	"OMIM:618529"	"robinow syndrome, autosomal recessive 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-22 14:47:54"	""	""	"29276006, 32954672, 32974972, 33048444"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NXN0Robinow"	"2023-11-30"
"GENCC_000106-HGNC_15719-OMIM_620235-HP_0000007-GENCC_100002"	"HGNC:15719"	"OBSCN"	"MONDO:0859371"	"rhabdomyolysis, susceptibility to, 1"	"OMIM:620235"	"{Rhabdomyolysis, susceptibility to, 1}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15719"	"OBSCN"	"OMIM:620235"	"{Rhabdomyolysis, susceptibility to, 1}"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 18:13:28"	""	""	"34957489"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OBSCN0rhabdomyolysis"	"2023-11-30"
"GENCC_000106-HGNC_8101-OMIM_203200-HP_0000007-GENCC_100002"	"HGNC:8101"	"OCA2"	"MONDO:0008746"	"oculocutaneous albinism type 2"	"OMIM:203200"	"{Albinism, oculocutaneous, type II, modifier of}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8101"	"OCA2"	"OMIM:203200"	"oculocutaneous albinism type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-30 19:06:30"	""	""	"15712365, 19865097, 21541274, 23504663, 26165494, 27734839"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OCA20Albinism"	"2023-11-30"
"GENCC_000106-HGNC_8108-OMIM_300555-HP_0001417-GENCC_100002"	"HGNC:8108"	"OCRL"	"MONDO:0010359"	"Dent disease type 2"	"OMIM:300555"	"Dent disease 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8108"	"OCRL"	"OMIM:300555"	"Dent disease type 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-11 14:24:29"	""	""	"15627218, 17162149, 19390221, 9048911"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OCRL0DentDisease"	"2023-11-30"
"GENCC_000106-HGNC_8109-OMIM_619075-HP_0000006-GENCC_100002"	"HGNC:8109"	"ODC1"	"MONDO:0033642"	"neurodevelopmental disorder with alopecia and brain abnormalities"	"OMIM:619075"	"Bachmann-Bupp syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8109"	"ODC1"	"OMIM:619075"	"Bachmann-Bupp syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-04 12:08:26"	""	""	"30239107, 30475435"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ODC10ODC1rel"	"2023-11-30"
"GENCC_000106-HGNC_2567-OMIM_300804-HP_0001417-GENCC_100002"	"HGNC:2567"	"OFD1"	"MONDO:0010431"	"Joubert syndrome 10"	"OMIM:300804"	"Joubert syndrome 10"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2567"	"OFD1"	"OMIM:300804"	"Joubert syndrome 10"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-31 07:59:14"	""	""	"16783569, 18546297, 27081566"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OFD10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_2567-OMIM_300424-HP_0001417-GENCC_100002"	"HGNC:2567"	"OFD1"	"MONDO:0010320"	"retinitis pigmentosa 23"	"OMIM:300424"	"?Retinitis pigmentosa 23"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:2567"	"OFD1"	"OMIM:300424"	"retinitis pigmentosa 23"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:08"	""	""	"10892847, 22619378, 29453956, 29843741, 33576794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OFD10RP"	"2023-11-30"
"GENCC_000106-HGNC_8124-OMIM_203740-HP_0000005-GENCC_100004"	"HGNC:8124"	"OGDH"	"MONDO:0008759"	"oxoglutaricaciduria"	"OMIM:203740"	"Oxoglutarate dehydrogenase deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8124"	"OGDH"	"OMIM:203740"	"oxoglutaricaciduria"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-12-16 21:55:59"	""	""	"28191890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OGDH0ASD"	"2023-11-30"
"GENCC_000106-HGNC_8124-OMIM_203740-HP_0000007-GENCC_100002"	"HGNC:8124"	"OGDH"	"MONDO:0008759"	"oxoglutaricaciduria"	"OMIM:203740"	"Oxoglutarate dehydrogenase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8124"	"OGDH"	"OMIM:203740"	"oxoglutaricaciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-16 21:55:59"	""	""	"10774994, 1640293, 32383294, 36520152"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OGDH0AlphaKeto"	"2023-11-30"
"GENCC_000106-HGNC_18855-OMIM_619324-HP_0000006-GENCC_100002"	"HGNC:18855"	"CREB3L3"	"MONDO:0859149"	"hypertriglyceridemia 2"	"OMIM:619324"	"Hypertriglyceridemia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18855"	"CREB3L3"	"OMIM:619324"	"Hypertriglyceridemia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-09 08:56:19"	""	""	"21666694, 24503134, 26427795"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CREB3L30Hypertriglyc"	"2023-11-30"
"GENCC_000106-HGNC_8140-OMIM_616896-HP_0000007-GENCC_100004"	"HGNC:8140"	"OPA1"	"MONDO:0014820"	"mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)"	"OMIM:616896"	"?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8140"	"OPA1"	"OMIM:616896"	"mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-30 09:47:13"	""	""	"26561570"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPA10IEHOA"	"2023-11-30"
"GENCC_000106-HGNC_8140-OMIM_125250-HP_0000006-GENCC_100002"	"HGNC:8140"	"OPA1"	"MONDO:0007429"	"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"	"OMIM:125250"	"Optic atrophy plus syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8140"	"OPA1"	"OMIM:125250"	"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 20:34:23"	""	""	"392438, 11440988, 17428816, 18360822, 19029523, 19319978, 20157015, 20952381, 24086434, 25012220, 25564500, 26561570, 782452089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPA10OPA1rel"	"2023-11-30"
"GENCC_000106-HGNC_8140-OMIM_210000-HP_0000007-GENCC_100002"	"HGNC:8140"	"OPA1"	"MONDO:0008858"	"Behr syndrome"	"OMIM:210000"	"Behr syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8140"	"OPA1"	"OMIM:210000"	"Behr syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-28 11:49:28"	""	""	"21636302, 25012220, 30738307, 33340656"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPA10OPA1rel02"	"2023-11-30"
"GENCC_000106-HGNC_26222-OMIM_619338-HP_0000006-GENCC_100002"	"HGNC:26222"	"FAR1"	"MONDO:0036212"	"spastic paraparesis-cataracts-speech delay syndrome"	"OMIM:619338"	"Cataracts, spastic paraparesis, and speech delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26222"	"FAR1"	"OMIM:619338"	"Cataracts, spastic paraparesis, and speech delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 11:35:45"	""	""	"33239752"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FAR10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_20218-OMIM_619345-HP_0000007-GENCC_100004"	"HGNC:20218"	"LYSET"	"MONDO:0859156"	"dysostosis multiplex, Ain-Naz type"	"OMIM:619345"	"Dysostosis multiplex, Ain-Naz type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20218"	"LYSET"	"OMIM:619345"	"Dysostosis multiplex, Ain-Naz type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-27 13:04:53"	""	""	"33252156"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM2510TMEM251rel"	"2023-11-30"
"GENCC_000106-HGNC_17142-OMIM_613435-HP_0000006-GENCC_100002"	"HGNC:17142"	"OPTN"	"MONDO:0013264"	"amyotrophic lateral sclerosis type 12"	"OMIM:613435"	"Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17142"	"OPTN"	"OMIM:613435"	"amyotrophic lateral sclerosis type 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-22 14:46:18"	""	""	"20428114, 21220178, 21613650, 21802176, 21852022, 22015311, 22708870, 22722621, 23062601, 24683533, 24908169, 26503823, 27534431, 29895397, 30519240"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPTN0ALS02"	"2023-11-30"
"GENCC_000106-HGNC_17142-OMIM_137760-HP_0000006-GENCC_100002"	"HGNC:17142"	"OPTN"	"MONDO:0007665"	"glaucoma 1, open angle, E"	"OMIM:137760"	"Glaucoma 1, open angle, E"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17142"	"OPTN"	"OMIM:137760"	"glaucoma 1, open angle, E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-27 10:06:35"	""	""	"11834836, 19672125, 20085643, 20388642, 20634958, 22040667, 22422156, 24683533, 26740678, 9300658"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OPTN0POAG"	"2023-11-30"
"GENCC_000106-HGNC_8512-OMIM_311250-HP_0001417-GENCC_100002"	"HGNC:8512"	"OTC"	"MONDO:0010703"	"ornithine carbamoyltransferase deficiency"	"OMIM:311250"	"Ornithine transcarbamylase deficiency"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:8512"	"OTC"	"OMIM:311250"	"ornithine carbamoyltransferase deficiency"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 15:53:55"	""	""	"10946359, 16786505, 25958381, 26574542, 311250, 3162766, 3603027, 8609240"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTC0OTCDef"	"2023-11-30"
"GENCC_000106-HGNC_8522-OMIM_610125-HP_0000006-GENCC_100002"	"HGNC:8522"	"OTX2"	"MONDO:0012413"	"syndromic microphthalmia type 5"	"OMIM:610125"	"Microphthalmia, syndromic 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8522"	"OTX2"	"OMIM:610125"	"syndromic microphthalmia type 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 10:19:22"	""	""	"15846561, 18781617, 20486942, 24234651, 7588062"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTX20MAC"	"2023-11-30"
"GENCC_000106-HGNC_8522-OMIM_613986-HP_0000006-GENCC_100002"	"HGNC:8522"	"OTX2"	"MONDO:0013518"	"pituitary hormone deficiency, combined, 6"	"OMIM:613986"	"Pituitary hormone deficiency, combined, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8522"	"OTX2"	"OMIM:613986"	"pituitary hormone deficiency, combined, 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-23 12:31:15"	""	""	"18728160, 18854396, 22715480, 24234651, 30374660, 7588062"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OTX20PituitaryDef"	"2023-11-30"
"GENCC_000106-HGNC_7569-OMIM_619350-HP_0000006-GENCC_100004"	"HGNC:7569"	"MYH11"	"MONDO:0859157"	"visceral myopathy 2"	"OMIM:619350"	"Visceral myopathy 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7569"	"MYH11"	"OMIM:619350"	"Visceral myopathy 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-07 14:00:35"	""	""	"31389005, 31944481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYH110CIPO"	"2023-11-30"
"GENCC_000106-HGNC_8547-OMIM_617238-HP_0000005-GENCC_100004"	"HGNC:8547"	"P4HA2"	"MONDO:0014982"	"myopia 25, autosomal dominant"	"OMIM:617238"	"Myopia 25, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8547"	"P4HA2"	"OMIM:617238"	"myopia 25, autosomal dominant"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 10:29:35"	""	""	"25741866, 31560770"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"P4HA20Myopia"	"2023-11-30"
"GENCC_000106-HGNC_28858-OMIM_618493-HP_0000007-GENCC_100002"	"HGNC:28858"	"P4HTM"	"MONDO:0032780"	"hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities"	"OMIM:618493"	"Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28858"	"P4HTM"	"OMIM:618493"	"hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 20:14:35"	""	""	"30940925, 37083980"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"P4HTM0HIDEA"	"2023-11-30"
"GENCC_000106-HGNC_18337-OMIM_191480-HP_0000005-GENCC_100004"	"HGNC:18337"	"PADI3"	"MONDO:0020736"	"uncombable hair syndrome 1"	"OMIM:191480"	"Uncombable hair syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18337"	"PADI3"	"OMIM:191480"	"uncombable hair syndrome 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"30763140"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PADI30Alopecia"	"2023-11-30"
"GENCC_000106-HGNC_20449-OMIM_617234-HP_0000007-GENCC_100002"	"HGNC:20449"	"PADI6"	"MONDO:0014978"	"preimplantation embryonic lethality 2"	"OMIM:617234"	"Oocyte/zygote/embryo maturation arrest 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20449"	"PADI6"	"OMIM:617234"	"preimplantation embryonic lethality 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 18:58:26"	""	""	"18599511, 21147087, 27545678, 27730629, 29606347, 36088419"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PADI60Preimpla"	"2023-11-30"
"GENCC_000106-HGNC_8591-OMIM_618458-HP_0000005-GENCC_100004"	"HGNC:8591"	"PAK2"	"MONDO:0100119"	"Knobloch syndrome 2"	"OMIM:618458"	"?Knobloch syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8591"	"PAK2"	"OMIM:618458"	"?Knobloch syndrome 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-08-31 17:04:46"	""	""	"15918153, 20832509, 31338352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAK20PAK2rel"	"2023-11-30"
"GENCC_000106-HGNC_26144-OMIM_613348-HP_0000006-GENCC_100002"	"HGNC:26144"	"PALB2"	"MONDO:0013236"	"pancreatic cancer, susceptibility to, 3"	"OMIM:613348"	"{Pancreatic cancer, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26144"	"PALB2"	"OMIM:613348"	"pancreatic cancer, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-12 21:05:56"	""	""	"17200668, 17200672, 17287723, 17420451, 18628482, 19264984, 20412113, 20484223, 20858716, 20927582, 21285249, 22585167, 24136930, 24448499, 25099575, 25356972, 25479140, 25940717, 25959805, 26014596, 26075229, 26440929, 26720728, 28418444, 28649662, 28767289, 28888541, 29506128, 29522266, 29922827, 29988077, 30128536, 30287823, 30733081, 31497750, 31841383, 32053139, 32091585"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PALB20PALB2relCanc"	"2023-11-30"
"GENCC_000106-HGNC_15894-OMIM_234200-HP_0000007-GENCC_100002"	"HGNC:15894"	"PANK2"	"MONDO:0009319"	"pantothenate kinase-associated neurodegeneration"	"OMIM:234200"	"Neurodegeneration with brain iron accumulation 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15894"	"PANK2"	"OMIM:234200"	"pantothenate kinase-associated neurodegeneration"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 13:25:47"	""	""	"11479594, 12510040, 20301663"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PANK20NBIA"	"2023-11-30"
"GENCC_000106-HGNC_19366-OMIM_619593-HP_0000005-GENCC_100004"	"HGNC:19366"	"PANK4"	"MONDO:0030465"	"cataract 49"	"OMIM:619593"	"?Cataract 49"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19366"	"PANK4"	"OMIM:619593"	"?Cataract 49"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-18 13:45:04"	""	""	"30585370"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PANK40CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_20213-OMIM_619355-HP_0000007-GENCC_100004"	"HGNC:20213"	"COX16"	"MONDO:0859160"	"mitochondrial complex IV deficiency, nuclear type 22"	"OMIM:619355"	"Mitochondrial complex IV deficiency, nuclear type 22"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20213"	"COX16"	"OMIM:619355"	"Mitochondrial complex IV deficiency, nuclear type 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-07 14:01:37"	""	""	"33169484"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX160CytoCOxdef"	"2023-11-30"
"GENCC_000106-HGNC_30563-OMIM_618437-HP_0000007-GENCC_100002"	"HGNC:30563"	"PARS2"	"MONDO:0032752"	"developmental and epileptic encephalopathy, 75"	"OMIM:618437"	"Developmental and epileptic encephalopathy 75"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30563"	"PARS2"	"OMIM:618437"	"developmental and epileptic encephalopathy, 75"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:12"	""	""	"25629079, 27290639, 28077841, 29410512, 29667327, 29915213, 30237576, 31175295"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PARS20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_8617-OMIM_122880-HP_0000005-GENCC_100004"	"HGNC:8617"	"PAX3"	"MONDO:0007395"	"craniofacial-deafness-hand syndrome"	"OMIM:122880"	"Craniofacial-deafness-hand syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8617"	"PAX3"	"OMIM:122880"	"craniofacial-deafness-hand syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-30 12:36:33"	""	""	"14556253, 27013732, 31192527, 8664898"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX30CranioDeafHand"	"2023-11-30"
"GENCC_000106-HGNC_8617-OMIM_148820-HP_0000007-GENCC_100002"	"HGNC:8617"	"PAX3"	"MONDO:0007862"	"Waardenburg syndrome type 3"	"OMIM:148820"	"Waardenburg syndrome, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8617"	"PAX3"	"OMIM:148820"	"Waardenburg syndrome, type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-29 09:37:16"	""	""	"12949970, 35607853, 7726174, 8447316, 9302254"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX30Waardenburg"	"2023-11-30"
"GENCC_000106-HGNC_8617-OMIM_193500-HP_0000006-GENCC_100002"	"HGNC:8617"	"PAX3"	"MONDO:0008670"	"Waardenburg syndrome type 1"	"OMIM:193500"	"Waardenburg syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8617"	"PAX3"	"OMIM:193500"	"Waardenburg syndrome type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-08 09:01:48"	""	""	"1347148, 1347149, 20127975, 23512835, 7981674, 8490648, 8786127"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"Waardenburg103"	"2023-11-30"
"GENCC_000106-HGNC_8618-OMIM_612225-HP_0000005-GENCC_100004"	"HGNC:8618"	"PAX4"	"MONDO:0012818"	"maturity-onset diabetes of the young type 9"	"OMIM:612225"	"Maturity-onset diabetes of the young, type IX"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8618"	"PAX4"	"OMIM:612225"	"Maturity-onset diabetes of the young, type IX"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-01-11 22:55:26"	""	""	"17426099, 21263211, 27634015, 28993341, 30191644, 30663027, 31216263, 32531870"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX40Maturity04"	"2023-11-30"
"GENCC_000106-HGNC_8620-OMIM_106210-HP_0000006-GENCC_100002"	"HGNC:8620"	"PAX6"	"MONDO:0024507"	"aniridia 1"	"OMIM:106210"	"Aniridia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8620"	"PAX6"	"OMIM:106210"	"aniridia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 23:31:39"	""	""	"12634864, 16712695, 1684639, 18562673"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX60Aniridia"	"2023-11-30"
"GENCC_000106-HGNC_8620-OMIM_148190-HP_0000005-GENCC_100004"	"HGNC:8620"	"PAX6"	"MONDO:0007848"	"autosomal dominant keratitis"	"OMIM:148190"	"Keratitis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8620"	"PAX6"	"OMIM:148190"	"autosomal dominant keratitis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-21 15:36:44"	""	""	"1684639, 18562673, 7668281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX60Keratitis"	"2023-11-30"
"GENCC_000106-HGNC_8620-OMIM_604229-HP_0000006-GENCC_100002"	"HGNC:8620"	"PAX6"	"MONDO:0011414"	"Peters anomaly"	"OMIM:604229"	"Anterior segment dysgenesis 5, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8620"	"PAX6"	"OMIM:604229"	"Peters anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-05 19:11:32"	""	""	"12721955, 16604056, 1684639, 17417613, 18562673, 20405024, 21904390, 24281366, 8162071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX60Peters"	"2023-11-30"
"GENCC_000106-HGNC_8621-OMIM_618578-HP_0000007-GENCC_100002"	"HGNC:8621"	"PAX7"	"MONDO:0032821"	"myopathy, congenital, progressive, with scoliosis"	"OMIM:618578"	"Congenital myopathy 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8621"	"PAX7"	"OMIM:618578"	"Congenital myopathy 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"31092906"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAX70Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_8632-OMIM_617641-HP_0000006-GENCC_100002"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"OMIM:617641"	"Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8632"	"PBX1"	"OMIM:617641"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-22 23:25:42"	""	""	"11566859, 17937430, 25728055, 28270404, 28566479, 29036646, 29226118"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PBX10CAKUT"	"2023-11-30"
"GENCC_000106-HGNC_8657-OMIM_251280-HP_0000007-GENCC_100002"	"HGNC:8657"	"PCDH12"	"MONDO:0009625"	"diencephalic-mesencephalic junction dysplasia syndrome 1"	"OMIM:251280"	"Diencephalic-mesencephalic junction dysplasia syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8657"	"PCDH12"	"OMIM:251280"	"diencephalic-mesencephalic junction dysplasia syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 13:06:17"	""	""	"27164683, 28804758, 29556033, 30178464"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCDH120PCDH12rel"	"2023-11-30"
"GENCC_000106-HGNC_14674-OMIM_609533-HP_0000007-GENCC_100002"	"HGNC:14674"	"PCDH15"	"MONDO:0012293"	"autosomal recessive nonsyndromic hearing loss 23"	"OMIM:609533"	"Deafness, autosomal recessive 23"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14674"	"PCDH15"	"OMIM:609533"	"autosomal recessive nonsyndromic hearing loss 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"14570705, 1457075, 19107147, 21117948, 23767834, 26226137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCDH150Deafness"	"2023-11-30"
"GENCC_000106-HGNC_14674-OMIM_602083-HP_0000007-GENCC_100002"	"HGNC:14674"	"PCDH15"	"MONDO:0011186"	"Usher syndrome type 1F"	"OMIM:602083"	"Usher syndrome, type 1F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14674"	"PCDH15"	"OMIM:602083"	"Usher syndrome type 1F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-30 21:05:51"	""	""	"11398101, 11487575, 12711741, 14570705, 602083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"usher1F"	"2023-11-30"
"GENCC_000106-HGNC_14270-OMIM_300088-HP_0001417-GENCC_100002"	"HGNC:14270"	"PCDH19"	"MONDO:0010246"	"developmental and epileptic encephalopathy, 9"	"OMIM:300088"	"Developmental and epileptic encephalopathy 9"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:14270"	"PCDH19"	"OMIM:300088"	"developmental and epileptic encephalopathy, 9"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-14 16:29:11"	""	""	"21053371"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCDH190EIEE"	"2023-11-30"
"GENCC_000106-HGNC_8717-OMIM_619880-HP_0000007-GENCC_100002"	"HGNC:8717"	"PCDHGC4"	"MONDO:0859252"	"neurodevelopmental disorder with poor growth and skeletal anomalies"	"OMIM:619880"	"Neurodevelopmental disorder with poor growth and skeletal anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8717"	"PCDHGC4"	"OMIM:619880"	"Neurodevelopmental disorder with poor growth and skeletal anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-21 14:04:45"	""	""	"34244665"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCDHGC40PCDHGC4rel"	"2023-11-30"
"GENCC_000106-HGNC_20001-OMIM_603776-HP_0000006-GENCC_100002"	"HGNC:20001"	"PCSK9"	"MONDO:0011369"	"hypercholesterolemia, autosomal dominant, 3"	"OMIM:603776"	"Hypercholesterolemia, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20001"	"PCSK9"	"OMIM:603776"	"hypercholesterolemia, autosomal dominant, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-30 12:42:43"	""	""	"20073037, 23776352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PCSK90FamHypercholest"	"2023-11-30"
"GENCC_000106-HGNC_8766-OMIM_620047-HP_0000007-GENCC_100002"	"HGNC:8766"	"PDCD6IP"	"MONDO:0031060"	"microcephaly 29, primary, autosomal recessive"	"OMIM:620047"	"?Microcephaly 29, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8766"	"PDCD6IP"	"OMIM:620047"	"?Microcephaly 29, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 12:07:34"	""	""	"28322231, 32286682"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDCD6IP0MCPH"	"2023-11-30"
"GENCC_000106-HGNC_8772-OMIM_616921-HP_0000007-GENCC_100002"	"HGNC:8772"	"PDE10A"	"MONDO:0044637"	"infantile-onset generalized dyskinesia with orofacial involvement"	"OMIM:616921"	"Dyskinesia, limb and orofacial, infantile-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8772"	"PDE10A"	"OMIM:616921"	"dyskinesia, limb and orofacial, infantile-onset"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"27058446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE10A0Dyskines"	"2023-11-30"
"GENCC_000106-HGNC_8772-OMIM_616922-HP_0000006-GENCC_100002"	"HGNC:8772"	"PDE10A"	"MONDO:0014835"	"striatal degeneration, autosomal dominant 2"	"OMIM:616922"	"Striatal degeneration, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8772"	"PDE10A"	"OMIM:616922"	"striatal degeneration, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:31"	""	""	"27058447, 28949041, 29130591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE10A0Striatal"	"2023-11-30"
"GENCC_000106-HGNC_8776-OMIM_618140-HP_0000005-GENCC_100004"	"HGNC:8776"	"PDE1C"	"MONDO:0029137"	"hearing loss, autosomal dominant 74"	"OMIM:618140"	"?Deafness, autosomal dominant 74"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8776"	"PDE1C"	"OMIM:618140"	"hearing loss, autosomal dominant 74"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-10-04 07:56:53"	""	""	"29860631, 34556655"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE1C0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_484-OMIM_619361-HP_0000005-GENCC_100004"	"HGNC:484"	"ANGPT1"	"MONDO:0030293"	"angioedema, hereditary, 5"	"OMIM:619361"	"?Angioedema, hereditary, 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:484"	"ANGPT1"	"OMIM:619361"	"?Angioedema, hereditary, 5 "	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-07-05 12:00:31"	""	""	"108359268, 199760, 282678, 28601681"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANGPT10Angioedema"	"2023-11-30"
"GENCC_000106-HGNC_8783-OMIM_614613-HP_0000006-GENCC_100002"	"HGNC:8783"	"PDE4D"	"MONDO:0013822"	"acrodysostosis 2 with or without hormone resistance"	"OMIM:614613"	"Acrodysostosis 2, with or without hormone resistance"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8783"	"PDE4D"	"OMIM:614613"	"acrodysostosis 2 with or without hormone resistance"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 14:14:18"	""	""	"23033274, 24203977, 25044890, 25064455, 26763073, 30006632"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE4D0Acrodysostosis"	"2023-11-30"
"GENCC_000106-HGNC_8794-OMIM_614190-HP_0000006-GENCC_100004"	"HGNC:8794"	"PDE8B"	"MONDO:0013616"	"pigmented nodular adrenocortical disease, primary, 3"	"OMIM:614190"	"Pigmented nodular adrenocortical disease, primary, 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8794"	"PDE8B"	"OMIM:614190"	"pigmented nodular adrenocortical disease, primary, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"18272904, 22335482"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE8B0Pigmente"	"2023-11-30"
"GENCC_000106-HGNC_8794-OMIM_609161-HP_0000006-GENCC_100002"	"HGNC:8794"	"PDE8B"	"MONDO:0012205"	"autosomal dominant striatal neurodegeneration type 1"	"OMIM:609161"	"Striatal degeneration, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8794"	"PDE8B"	"OMIM:609161"	"Striatal degeneration, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:27:16"	""	""	"20085714, 26475694, 26769607, 31726290, 34022587"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDE8B0Striatal02"	"2023-11-30"
"GENCC_000106-HGNC_8800-OMIM_615483-HP_0000006-GENCC_100002"	"HGNC:8800"	"PDGFB"	"MONDO:0014204"	"basal ganglia calcification, idiopathic, 5"	"OMIM:615483"	"Basal ganglia calcification, idiopathic, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8800"	"PDGFB"	"OMIM:615483"	"basal ganglia calcification, idiopathic, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-10 13:38:07"	""	""	"23913003, 24518837, 26599395"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFB0BasalGanglia"	"2023-11-30"
"GENCC_000106-HGNC_8800-OMIM_607174-HP_0000005-GENCC_100004"	"HGNC:8800"	"PDGFB"	"MONDO:0011789"	"familial meningioma"	"OMIM:607174"	"Meningioma, SIS-related"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8800"	"PDGFB"	"OMIM:607174"	"familial meningioma"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-06 09:54:41"	""	""	"2212004"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFB0Meningio02"	"2023-11-30"
"GENCC_000106-HGNC_8803-OMIM_606764-HP_0000006-GENCC_100002"	"HGNC:8803"	"PDGFRA"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8803"	"PDGFRA"	"OMIM:606764"	"gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 23:20:17"	""	""	"14699510, 17087943, 18670346, 19448595, 25975287, 29486293"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFRA0GISTPS"	"2023-11-30"
"GENCC_000106-HGNC_8804-OMIM_615007-HP_0000006-GENCC_100002"	"HGNC:8804"	"PDGFRB"	"MONDO:0014004"	"basal ganglia calcification, idiopathic, 4"	"OMIM:615007"	"Basal ganglia calcification, idiopathic, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8804"	"PDGFRB"	"OMIM:615007"	"basal ganglia calcification, idiopathic, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:40:00"	""	""	"23255827, 23913003, 24065723, 24796542, 25292412, 26129893, 26599395, 28162874, 28298627"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFRB0BasalGanglia"	"2023-11-30"
"GENCC_000106-HGNC_8804-OMIM_616592-HP_0000006-GENCC_100002"	"HGNC:8804"	"PDGFRB"	"MONDO:0014704"	"skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"	"OMIM:616592"	"Kosaki overgrowth syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8804"	"PDGFRB"	"OMIM:616592"	"skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-05-19 19:52:21"	""	""	"25454926, 26455322, 28639748, 28726812, 29226947"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFRB0Kosaki"	"2023-11-30"
"GENCC_000106-HGNC_8804-OMIM_228550-HP_0000006-GENCC_100002"	"HGNC:8804"	"PDGFRB"	"MONDO:0009227"	"myofibromatosis, infantile, 1"	"OMIM:228550"	"Myofibromatosis, infantile, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8804"	"PDGFRB"	"OMIM:228550"	"myofibromatosis, infantile, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-06 12:20:13"	""	""	"23731537, 23731542, 25158255, 26455322, 28183292, 28286173, 28334876, 28496993, 30103666"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFRB0Myfibroma"	"2023-11-30"
"GENCC_000106-HGNC_8804-OMIM_601812-HP_0000006-GENCC_100002"	"HGNC:8804"	"PDGFRB"	"MONDO:0011150"	"acroosteolysis-keloid-like lesions-premature aging syndrome"	"OMIM:601812"	"Premature aging syndrome, Penttinen type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8804"	"PDGFRB"	"OMIM:601812"	"acroosteolysis-keloid-like lesions-premature aging syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-09 08:37:51"	""	""	"23720404, 26279204, 29944170"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDGFRB0PrematureAging"	"2023-11-30"
"GENCC_000106-HGNC_8807-OMIM_619828-HP_0000005-GENCC_100004"	"HGNC:8807"	"PDHA2"	"MONDO:0030733"	"spermatogenic failure 70"	"OMIM:619828"	"Spermatogenic failure 70"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8807"	"PDHA2"	"OMIM:619828"	"Spermatogenic failure 70"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-14 12:12:59"	""	""	"29581481"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDHA20PDHA2rel"	"2023-11-30"
"GENCC_000106-HGNC_9279-OMIM_608782-HP_0000007-GENCC_100002"	"HGNC:9279"	"PDP1"	"MONDO:0012120"	"pyruvate dehydrogenase phosphatase deficiency"	"OMIM:608782"	"Pyruvate dehydrogenase phosphatase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9279"	"PDP1"	"OMIM:608782"	"pyruvate dehydrogenase phosphatase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-10 20:46:21"	""	""	"15855260, 19184109, 34732400"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDP10PDHC"	"2023-11-30"
"GENCC_000106-HGNC_6107-OMIM_260370-HP_0000007-GENCC_100002"	"HGNC:6107"	"PDX1"	"MONDO:0024547"	"pancreatic agenesis 1"	"OMIM:260370"	"Pancreatic agenesis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6107"	"PDX1"	"OMIM:260370"	"pancreatic agenesis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:47"	""	""	"12970316, 20621032, 23320570, 26155204, 7935793"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDX10PermNeoDiabMel"	"2023-11-30"
"GENCC_000106-HGNC_15754-OMIM_619365-HP_0000007-GENCC_100002"	"HGNC:15754"	"MYL9"	"MONDO:0030296"	"megacystis-microcolon-intestinal hypoperistalsis syndrome 4"	"OMIM:619365"	"?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15754"	"MYL9"	"OMIM:619365"	"?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-18 07:19:40"	""	""	"27481187, 29453416, 32621347, 33031641, 33424621, 35802750"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYL90MMIH"	"2023-11-30"
"GENCC_000106-HGNC_26257-OMIM_605472-HP_0000005-GENCC_100004"	"HGNC:26257"	"PDZD7"	"MONDO:0011558"	"Usher syndrome type 2C"	"OMIM:605472"	"Usher syndrome, type IIC, GPR98/PDZD7 digenic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26257"	"PDZD7"	"OMIM:605472"	"Usher syndrome type 2C"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-13 12:48:29"	""	""	"20440071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PDZD70Usher"	"2023-11-30"
"GENCC_000106-HGNC_8846-OMIM_604348-HP_0000005-GENCC_100004"	"HGNC:8846"	"PER2"	"MONDO:0011442"	"advanced sleep phase syndrome 1"	"OMIM:604348"	"?Advanced sleep phase syndrome, familial, 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8846"	"PER2"	"OMIM:604348"	"?Advanced sleep phase syndrome, familial, 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-01-22 13:41:53"	""	""	"11232563, 21324900, 21818120, 29770483, 31527662"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PER20Advanced02"	"2023-11-30"
"GENCC_000106-HGNC_17637-OMIM_619208-HP_0000006-GENCC_100002"	"HGNC:17637"	"PERP"	"MONDO:0030961"	"Olmsted syndrome 2"	"OMIM:619208"	"Olmsted syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17637"	"PERP"	"OMIM:619208"	"Olmsted syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-01 13:46:52"	""	""	"15797384, 30321533, 31361044, 34265120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PERP0OlmstedS"	"2023-11-30"
"GENCC_000106-HGNC_17637-OMIM_619209-HP_0000007-GENCC_100002"	"HGNC:17637"	"PERP"	"MONDO:0030941"	"erythrokeratodermia variabilis et progressiva 7"	"OMIM:619209"	"Erythrokeratodermia variabilis et progressiva 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17637"	"PERP"	"OMIM:619209"	"Erythrokeratodermia variabilis et progressiva 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-19 07:46:30"	""	""	"30321533, 31898316, 34863005, 37510397"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PERP0PPKrelEctoderm"	"2023-11-30"
"GENCC_000106-HGNC_3656-OMIM_619366-HP_0000005-GENCC_100004"	"HGNC:3656"	"MYOF"	"MONDO:0025713"	"angioedema, hereditary, 7"	"OMIM:619366"	"?Angioedema, hereditary, 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3656"	"MYOF"	"OMIM:619366"	"?Angioedema, hereditary, 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-29 09:24:29"	""	""	"32542751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYOF0Angioedema"	"2023-11-30"
"GENCC_000106-HGNC_8850-OMIM_601539-HP_0000007-GENCC_100002"	"HGNC:8850"	"PEX1"	"MONDO:0011101"	"peroxisome biogenesis disorder 1B"	"OMIM:601539"	"Peroxisome biogenesis disorder 1B (NALD/IRD)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8850"	"PEX1"	"OMIM:601539"	"peroxisome biogenesis disorder 1B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"16086329, 16141001, 20301621, 21031596, 26387595, 31831025, 9398847"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX10PeroxBiogen"	"2023-11-30"
"GENCC_000106-HGNC_8851-OMIM_614871-HP_0000007-GENCC_100002"	"HGNC:8851"	"PEX10"	"MONDO:0013937"	"peroxisome biogenesis disorder 6B"	"OMIM:614871"	"Peroxisome biogenesis disorder 6B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8851"	"PEX10"	"OMIM:614871"	"peroxisome biogenesis disorder 6B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:00:15"	""	""	"10862081, 20301621, 20310621, 21031596, 9683594"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX100PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_8854-OMIM_614859-HP_0000007-GENCC_100002"	"HGNC:8854"	"PEX12"	"MONDO:0013927"	"peroxisome biogenesis disorder 3A (Zellweger)"	"OMIM:614859"	"Peroxisome biogenesis disorder 3A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8854"	"PEX12"	"OMIM:614859"	"peroxisome biogenesis disorder 3A (Zellweger)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"20301621, 21031596, 9090384, 9632816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX120PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_8855-OMIM_614883-HP_0000007-GENCC_100002"	"HGNC:8855"	"PEX13"	"MONDO:0013949"	"peroxisome biogenesis disorder 11A (Zellweger)"	"OMIM:614883"	"Peroxisome biogenesis disorder 11A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8855"	"PEX13"	"OMIM:614883"	"peroxisome biogenesis disorder 11A (Zellweger)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 17:58:13"	""	""	"10332040, 20301621, 21031596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX130PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_8857-OMIM_614877-HP_0000007-GENCC_100002"	"HGNC:8857"	"PEX16"	"MONDO:0013943"	"peroxisome biogenesis disorder 8B"	"OMIM:614877"	"Peroxisome biogenesis disorder 8B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8857"	"PEX16"	"OMIM:614877"	"peroxisome biogenesis disorder 8B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"11890679, 20647552, 20681997, 21031596, 30561787, 9837814"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX160PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_9717-OMIM_614867-HP_0000007-GENCC_100002"	"HGNC:9717"	"PEX2"	"MONDO:0013933"	"peroxisome biogenesis disorder 5B"	"OMIM:614867"	"Peroxisome biogenesis disorder 5B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9717"	"PEX2"	"OMIM:614867"	"peroxisome biogenesis disorder 5B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"10528859, 14630978, 20301621, 21031596, 9452066"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX20PeroxBiogen"	"2023-11-30"
"GENCC_000106-HGNC_10351-OMIM_619371-HP_0000007-GENCC_100002"	"HGNC:10351"	"RPL3L"	"MONDO:0030300"	"cardiomyopathy, dilated, 2D"	"OMIM:619371"	"Cardiomyopathy, dilated, 2D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10351"	"RPL3L"	"OMIM:619371"	"Cardiomyopathy, dilated, 2D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 22:42:13"	""	""	"32514796"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL3L0DCM"	"2023-11-30"
"GENCC_000106-HGNC_8858-OMIM_614882-HP_0000007-GENCC_100002"	"HGNC:8858"	"PEX3"	"MONDO:0013948"	"peroxisome biogenesis disorder 10A (Zellweger)"	"OMIM:614882"	"Peroxisome biogenesis disorder 10A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8858"	"PEX3"	"OMIM:614882"	"peroxisome biogenesis disorder 10A (Zellweger)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:23:28"	""	""	"10871277, 10942428, 20033294, 20301621, 21031596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX30PeroxBiogen"	"2023-11-30"
"GENCC_000106-HGNC_9719-OMIM_616716-HP_0000007-GENCC_100002"	"HGNC:9719"	"PEX5"	"MONDO:0014743"	"rhizomelic chondrodysplasia punctata type 5"	"OMIM:616716"	"Rhizomelic chondrodysplasia punctata, type 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9719"	"PEX5"	"OMIM:616716"	"rhizomelic chondrodysplasia punctata type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-21 19:23:12"	""	""	"26220973"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX50ChondrodysPunct"	"2023-11-30"
"GENCC_000106-HGNC_9719-OMIM_214110-HP_0000007-GENCC_100002"	"HGNC:9719"	"PEX5"	"MONDO:0008954"	"peroxisome biogenesis disorder 2A (Zellweger)"	"OMIM:214110"	"Peroxisome biogenesis disorder 2A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9719"	"PEX5"	"OMIM:214110"	"peroxisome biogenesis disorder 2A (Zellweger)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"11583975, 18712838, 20301621, 21031596, 7719337"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX50PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_8859-OMIM_614862-HP_0000007-GENCC_100002"	"HGNC:8859"	"PEX6"	"MONDO:0013930"	"peroxisome biogenesis disorder 4A (Zellweger)"	"OMIM:614862"	"Peroxisome biogenesis disorder 4A (Zellweger)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8859"	"PEX6"	"OMIM:614862"	"peroxisome biogenesis disorder 4A (Zellweger)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 21:06:56"	""	""	"19877282, 20301621, 21031596, 26387595, 31831025, 8670792"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PEX60PBD-ZSS"	"2023-11-30"
"GENCC_000106-HGNC_8860-OMIM_215100-HP_0000007-GENCC_100002"	"HGNC:8860"	"PEX7"	"MONDO:0008972"	"rhizomelic chondrodysplasia punctata type 1"	"OMIM:215100"	"Rhizomelic chondrodysplasia punctata, type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8860"	"PEX7"	"OMIM:215100"	"rhizomelic chondrodysplasia punctata type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"12325024, 12522768, 12915479, 20301447, 21990100, 7541833"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RCDP1"	"2023-11-30"
"GENCC_000106-HGNC_8860-OMIM_614879-HP_0000007-GENCC_100002"	"HGNC:8860"	"PEX7"	"MONDO:0013945"	"peroxisome biogenesis disorder 9B"	"OMIM:614879"	"Peroxisome biogenesis disorder 9B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8860"	"PEX7"	"OMIM:614879"	"peroxisome biogenesis disorder 9B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-17 16:20:54"	""	""	"12325024, 12522768, 7541833"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"Refsum0PEX7"	"2023-11-30"
"GENCC_000106-HGNC_8881-OMIM_614808-HP_0000006-GENCC_100002"	"HGNC:8881"	"PFN1"	"MONDO:0013891"	"amyotrophic lateral sclerosis type 18"	"OMIM:614808"	"Amyotrophic lateral sclerosis 18"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8881"	"PFN1"	"OMIM:614808"	"amyotrophic lateral sclerosis type 18"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 15:37:48"	""	""	"22801503, 23141414, 25499087, 27025851"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PFN10ALS"	"2023-11-30"
"GENCC_000106-HGNC_19383-OMIM_619375-HP_0000006-GENCC_100002"	"HGNC:19383"	"SOCS1"	"MONDO:0800130"	"autoinflammatory syndrome with immunodeficiency"	"OMIM:619375"	"Autoinflammatory syndrome, familial, with or without immunodeficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19383"	"SOCS1"	"OMIM:619375"	"Autoinflammatory syndrome, familial, with or without immunodeficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-21 12:40:28"	""	""	"32853638, 33087723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOCS10Autoimmunity"	"2023-11-30"
"GENCC_000106-HGNC_8931-OMIM_613027-HP_0000007-GENCC_100002"	"HGNC:8931"	"PHKG2"	"MONDO:0013091"	"glycogen storage disease IXc"	"OMIM:613027"	"Glycogen storage disease IXc"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8931"	"PHKG2"	"OMIM:613027"	"glycogen storage disease IXc"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 11:48:35"	""	""	"17689125, 21646031, 24326380, 8896567"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHKG20GSD"	"2023-11-30"
"GENCC_000106-HGNC_691-OMIM_602078-HP_0000007-GENCC_100002"	"HGNC:691"	"PHOX2A"	"MONDO:0011181"	"fibrosis of extraocular muscles, congenital, 2"	"OMIM:602078"	"Fibrosis of extraocular muscles, congenital, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:691"	"PHOX2A"	"OMIM:602078"	"fibrosis of extraocular muscles, congenital, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"11600883, 14566559, 14597037, 16815872, 250366, 9115735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHOX2A0Fibrosis02"	"2023-11-30"
"GENCC_000106-HGNC_9143-OMIM_209880-HP_0000006-GENCC_100002"	"HGNC:9143"	"PHOX2B"	"MONDO:0800026"	"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"OMIM:209880"	"Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9143"	"PHOX2B"	"OMIM:209880"	"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-11 10:19:52"	""	""	"23692929, 25156769, 32958024"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PHOX2B0CCHS"	"2023-11-30"
"GENCC_000106-HGNC_8983-OMIM_616531-HP_0000007-GENCC_100002"	"HGNC:8983"	"PI4KA"	"MONDO:0014679"	"polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"	"OMIM:616531"	"Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8983"	"PI4KA"	"OMIM:616531"	"polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:58:59"	""	""	"29738522, 30614210, 34415310, 34415322"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PI4KA0PI4KArel"	"2023-11-30"
"GENCC_000106-HGNC_8984-OMIM_620281-HP_0000006-GENCC_100004"	"HGNC:8984"	"PI4KB"	"MONDO:0859525"	"hearing loss, autosomal dominant 87"	"OMIM:620281"	"Deafness, autosomal dominant 87"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8984"	"PI4KB"	"OMIM:620281"	"Deafness, autosomal dominant 87"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-12 18:50:39"	""	""	"31640787, 33358777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PI4KB0NSHL"	"2023-11-30"
"GENCC_000106-HGNC_28993-OMIM_616843-HP_0000007-GENCC_100002"	"HGNC:28993"	"PIEZO1"	"MONDO:0014797"	"lymphatic malformation 6"	"OMIM:616843"	"Lymphatic malformation 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28993"	"PIEZO1"	"OMIM:616843"	"lymphatic malformation 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-10 15:47:59"	""	""	"26333996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIEZO10Lymphede"	"2023-11-30"
"GENCC_000106-HGNC_26270-OMIM_114300-HP_0000006-GENCC_100002"	"HGNC:26270"	"PIEZO2"	"MONDO:0007252"	"Gordon syndrome"	"OMIM:114300"	"Arthrogryposis, distal, type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26270"	"PIEZO2"	"OMIM:114300"	"Gordon syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:37:58"	""	""	"23487782, 24726473"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIEZO20Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_8962-OMIM_619356-HP_0000007-GENCC_100004"	"HGNC:8962"	"PIGF"	"MONDO:0859161"	"onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome"	"OMIM:619356"	"Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8962"	"PIGF"	"OMIM:619356"	"Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-15 10:48:19"	""	""	"33386993"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGF0PIGFdeficiency"	"2023-11-30"
"GENCC_000106-HGNC_18858-OMIM_610293-HP_0000005-GENCC_100004"	"HGNC:18858"	"PIGM"	"MONDO:0012465"	"hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	"OMIM:610293"	"Glycosylphosphatidylinositol deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18858"	"PIGM"	"OMIM:610293"	"hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"16767100, 25293775"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGM0GlycophosDef"	"2023-11-30"
"GENCC_000106-HGNC_28213-OMIM_616809-HP_0000005-GENCC_100004"	"HGNC:28213"	"PIGY"	"MONDO:0014780"	"hyperphosphatasia with intellectual disability syndrome 6"	"OMIM:616809"	"Hyperphosphatasia with impaired intellectual development syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28213"	"PIGY"	"OMIM:616809"	"hyperphosphatasia with intellectual disability syndrome 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-30 09:43:34"	""	""	"26293662"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIGY0Hyperpho03"	"2023-11-30"
"GENCC_000106-HGNC_3300-OMIM_619376-HP_0000006-GENCC_100002"	"HGNC:3300"	"EIF5A"	"MONDO:0859163"	"Faundes-Banka syndrome"	"OMIM:619376"	"Faundes-Banka syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3300"	"EIF5A"	"OMIM:619376"	"Faundes-Banka syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-18 07:18:51"	""	""	"33547280"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EIF5A0FauBan"	"2023-11-30"
"GENCC_000106-HGNC_8975-OMIM_602501-HP_0000006-GENCC_100002"	"HGNC:8975"	"PIK3CA"	"MONDO:0011240"	"megalencephaly-capillary malformation-polymicrogyria syndrome"	"OMIM:602501"	"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8975"	"PIK3CA"	"OMIM:602501"	"megalencephaly-capillary malformation-polymicrogyria syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-11 18:21:20"	""	""	"15930273, 17376864, 18829572, 19305151, 22658544, 22729222, 22729224, 23246288, 24782230, 25550458, 27426476, 27631024, 28151489, 32692051"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3CA0MCAP"	"2023-11-30"
"GENCC_000106-HGNC_8975-OMIM_615108-HP_0000006-GENCC_100004"	"HGNC:8975"	"PIK3CA"	"MONDO:0014047"	"Cowden syndrome 5"	"OMIM:615108"	"Cowden syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8975"	"PIK3CA"	"OMIM:615108"	"Cowden syndrome 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-18 11:30:32"	""	""	"23246288, 23946963, 24497998, 28724667, 32568377"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3CA0PHTSlike"	"2023-11-30"
"GENCC_000106-HGNC_8977-OMIM_619281-HP_0000005-GENCC_100004"	"HGNC:8977"	"PIK3CD"	"MONDO:0023655"	"immunodeficiency 14b, autosomal recessive"	"OMIM:619281"	"Immunodeficiency 14B, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8977"	"PIK3CD"	"OMIM:619281"	"Immunodeficiency 14B, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:54:37"	""	""	"29180244, 30040974, 30336224"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3CD0PIK3CDdef"	"2023-11-30"
"GENCC_000106-HGNC_8978-OMIM_619802-HP_0000005-GENCC_100004"	"HGNC:8978"	"PIK3CG"	"MONDO:0030717"	"immunodeficiency 97 with autoinflammation"	"OMIM:619802"	"Immunodeficiency 97 with autoinflammation"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8978"	"PIK3CG"	"OMIM:619802"	"Immunodeficiency 97 with autoinflammation"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-14 12:02:55"	""	""	"31554793, 33054089"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3CG0Immunodef"	"2023-11-30"
"GENCC_000106-HGNC_8979-OMIM_616005-HP_0000006-GENCC_100002"	"HGNC:8979"	"PIK3R1"	"MONDO:0014453"	"immunodeficiency 36"	"OMIM:616005"	"Immunodeficiency 36"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:8979"	"PIK3R1"	"OMIM:616005"	"immunodeficiency 36"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 21:30:56"	""	""	"22351933, 25133428, 27555459"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PIK3R10APDS"	"2023-11-30"
"GENCC_000106-HGNC_17663-OMIM_619405-HP_0000007-GENCC_100002"	"HGNC:17663"	"PITRM1"	"MONDO:0030318"	"spinocerebellar ataxia, autosomal recessive 30"	"OMIM:619405"	"Spinocerebellar ataxia, autosomal recessive 30"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17663"	"PITRM1"	"OMIM:619405"	"spinocerebellar ataxia, autosomal recessive 30"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-27 14:31:39"	""	""	"26697887, 29764912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITRM10SCAR"	"2023-11-30"
"GENCC_000106-HGNC_9004-OMIM_119800-HP_0000006-GENCC_100004"	"HGNC:9004"	"PITX1"	"MONDO:0007342"	"clubfoot"	"OMIM:119800"	"Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9004"	"PITX1"	"OMIM:119800"	"clubfoot"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-25 13:21:46"	""	""	"10049363, 10101115, 1895074, 18950742, 21775501, 22258522, 280791, 28976722, 29621304, 3358425"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITX10Talipes"	"2023-11-30"
"GENCC_000106-HGNC_9005-OMIM_180500-HP_0000006-GENCC_100002"	"HGNC:9005"	"PITX2"	"MONDO:0008386"	"Axenfeld-Rieger syndrome type 1"	"OMIM:180500"	"Axenfeld-Rieger syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9005"	"PITX2"	"OMIM:180500"	"Axenfeld-Rieger syndrome type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 15:17:50"	""	""	"355080, 10499586, 14985297, 16274491, 16936096, 17167399, 18498376, 19513095, 20881294, 2167748, 27654429, 30457409, 32429730, 34745210, 36442680"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITX20Axenfeld"	"2023-11-30"
"GENCC_000106-HGNC_9005-OMIM_137600-HP_0000006-GENCC_100002"	"HGNC:9005"	"PITX2"	"MONDO:0007662"	"anterior segment dysgenesis 4"	"OMIM:137600"	"Anterior segment dysgenesis 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9005"	"PITX2"	"OMIM:137600"	"anterior segment dysgenesis 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:50:15"	""	""	"11929847, 12130547, 19052653, 20339518, 27081499, 31341655, 32499604, 8942889, 9437321, 9618168"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITX20Iridogoniodys"	"2023-11-30"
"GENCC_000106-HGNC_9005-OMIM_604229-HP_0000006-GENCC_100004"	"HGNC:9005"	"PITX2"	"MONDO:0011414"	"Peters anomaly"	"OMIM:604229"	"Anterior segment dysgenesis 5, multiple subtypes"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9005"	"PITX2"	"OMIM:604229"	"Peters anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-20 08:50:15"	""	""	"10051017, 14985297, 15591271, 19461663, 22569110"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITX20Peters"	"2023-11-30"
"GENCC_000106-HGNC_9005-OMIM_180550-HP_0000005-GENCC_100004"	"HGNC:9005"	"PITX2"	"MONDO:0008387"	"ring dermoid of cornea"	"OMIM:180550"	"Ring dermoid of cornea"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9005"	"PITX2"	"OMIM:180550"	"ring dermoid of cornea"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-04-06 19:24:56"	""	""	"15591271"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITX20RingDermoid"	"2023-11-30"
"GENCC_000106-HGNC_9006-OMIM_610623-HP_0000006-GENCC_100002"	"HGNC:9006"	"PITX3"	"MONDO:0012527"	"cataract 11 multiple types"	"OMIM:610623"	"Cataract 11, syndromic, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9006"	"PITX3"	"OMIM:610623"	"cataract 11 multiple types"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 12:24:51"	""	""	"10361984, 15286169, 16565358, 16636655, 17888164, 24555714, 25347445, 29405783, 30816539, 9620774"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITX30CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_9006-OMIM_107250-HP_0000006-GENCC_100002"	"HGNC:9006"	"PITX3"	"MONDO:0007138"	"anterior segment dysgenesis 1"	"OMIM:107250"	"Anterior segment dysgenesis 1, multiple subtypes"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9006"	"PITX3"	"OMIM:107250"	"anterior segment dysgenesis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"10361984, 15286169, 17888164, 18989383, 24555714, 25347445, 9620774"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PITX30MesenchymDys"	"2023-11-30"
"GENCC_000106-HGNC_9020-OMIM_266200-HP_0000007-GENCC_100002"	"HGNC:9020"	"PKLR"	"MONDO:0009950"	"pyruvate kinase deficiency of red cells"	"OMIM:266200"	"Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9020"	"PKLR"	"OMIM:266200"	"pyruvate kinase deficiency of red cells"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-20 15:03:30"	""	""	"15953013, 26832193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PKLR0Pyruvate"	"2023-11-30"
"GENCC_000106-HGNC_9039-OMIM_256600-HP_0000007-GENCC_100002"	"HGNC:9039"	"PLA2G6"	"MONDO:0024457"	"neurodegeneration with brain iron accumulation 2A"	"OMIM:256600"	"Infantile neuroaxonal dystrophy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9039"	"PLA2G6"	"OMIM:256600"	"neurodegeneration with brain iron accumulation 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 02:53:50"	""	""	"16783378, 17033970, 18799783, 19138334, 21813701, 25164370, 27196560"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLA2G60InfNeuroaxon"	"2023-11-30"
"GENCC_000106-HGNC_9039-OMIM_610217-HP_0000007-GENCC_100002"	"HGNC:9039"	"PLA2G6"	"MONDO:0012444"	"neurodegeneration with brain iron accumulation 2B"	"OMIM:610217"	"Neurodegeneration with brain iron accumulation 2B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9039"	"PLA2G6"	"OMIM:610217"	"neurodegeneration with brain iron accumulation 2B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-17 01:05:28"	""	""	"16783378, 18799783, 21813701"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLA2G60NBIA"	"2023-11-30"
"GENCC_000106-HGNC_9039-OMIM_612953-HP_0000007-GENCC_100002"	"HGNC:9039"	"PLA2G6"	"MONDO:0013060"	"autosomal recessive Parkinson disease 14"	"OMIM:612953"	"Parkinson disease 14, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9039"	"PLA2G6"	"OMIM:612953"	"autosomal recessive Parkinson disease 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 15:05:43"	""	""	"18570303, 20938027, 22213678"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLA2G60Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_9045-OMIM_618907-HP_0000006-GENCC_100002"	"HGNC:9045"	"PLAG1"	"MONDO:0030118"	"silver-russell syndrome 4"	"OMIM:618907"	"Silver-Russell syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9045"	"PLAG1"	"OMIM:618907"	"silver-russell syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-18 16:14:08"	""	""	"15606491, 28796236, 32546215"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLAG10SilRussSyn"	"2023-11-30"
"GENCC_000106-HGNC_9052-OMIM_601709-HP_0000006-GENCC_100004"	"HGNC:9052"	"PLAU"	"MONDO:0011136"	"Quebec platelet disorder"	"OMIM:601709"	"Quebec platelet disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9052"	"PLAU"	"OMIM:601709"	"Quebec platelet disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"20007542, 28301587"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLAU0QuebecPl"	"2023-11-30"
"GENCC_000106-HGNC_11491-OMIM_619381-HP_0000006-GENCC_100002"	"HGNC:11491"	"SYK"	"MONDO:0030308"	"immunodeficiency 82 with systemic inflammation"	"OMIM:619381"	"Immunodeficiency 82 with systemic inflammation"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11491"	"SYK"	"OMIM:619381"	"Immunodeficiency 82 with systemic inflammation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-05 12:01:07"	""	""	"33782605"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYK0SYKrel"	"2023-11-30"
"GENCC_000106-HGNC_9059-OMIM_614669-HP_0000007-GENCC_100002"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"OMIM:614669"	"Auriculocondylar syndrome 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9059"	"PLCB4"	"OMIM:614669"	"auriculocondylar syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 09:31:47"	""	""	"23913798, 27007857"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCB40Auriculo02"	"2023-11-30"
"GENCC_000106-HGNC_9059-OMIM_614669-HP_0000006-GENCC_100002"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"OMIM:614669"	"Auriculocondylar syndrome 2A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9059"	"PLCB4"	"OMIM:614669"	"auriculocondylar syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 09:31:47"	""	""	"22560091, 23315542, 23913798, 27007857"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCB40Auriculo0202"	"2023-11-30"
"GENCC_000106-HGNC_9066-OMIM_614878-HP_0000006-GENCC_100002"	"HGNC:9066"	"PLCG2"	"MONDO:0013944"	"autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"	"OMIM:614878"	"Autoinflammation, antibody deficiency, and immune dysregulation syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9066"	"PLCG2"	"OMIM:614878"	"autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-19 08:09:09"	""	""	"23000145, 30619256"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCG20APLAID"	"2023-11-30"
"GENCC_000106-HGNC_9066-OMIM_614468-HP_0000006-GENCC_100002"	"HGNC:9066"	"PLCG2"	"MONDO:0013766"	"familial cold autoinflammatory syndrome 3"	"OMIM:614468"	"Familial cold autoinflammatory syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9066"	"PLCG2"	"OMIM:614468"	"familial cold autoinflammatory syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-30 12:34:01"	""	""	"137986, 22236196, 611762"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCG20FamColdAutoInf"	"2023-11-30"
"GENCC_000106-HGNC_29185-OMIM_619895-HP_0000007-GENCC_100002"	"HGNC:29185"	"PLCH1"	"MONDO:0030886"	"holoprosencephaly 14"	"OMIM:619895"	"Holoprosencephaly 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29185"	"PLCH1"	"OMIM:619895"	"Holoprosencephaly 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-03 16:00:53"	""	""	"33820834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLCH10Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_26178-OMIM_619402-HP_0000006-GENCC_100002"	"HGNC:26178"	"FHOD3"	"MONDO:0030317"	"cardiomyopathy, familial hypertrophic, 28"	"OMIM:619402"	"Cardiomyopathy, familial hypertrophic, 28"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:26178"	"FHOD3"	"OMIM:619402"	"Cardiomyopathy, familial hypertrophic, 28"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:04:48"	""	""	"1.58086E+15, 29907873, 30206291, 30442288"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FHOD30HCM"	"2023-11-30"
"GENCC_000106-HGNC_9067-OMIM_212093-HP_0000007-GENCC_100002"	"HGNC:9067"	"PLD1"	"MONDO:0008913"	"cardiac valvular defect, developmental"	"OMIM:212093"	"Cardiac valvular dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9067"	"PLD1"	"OMIM:212093"	"cardiac valvular defect, developmental"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-10 22:10:56"	""	""	"27799408, 33645542, 37770978"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLD10CVD"	"2023-11-30"
"GENCC_000106-HGNC_6262-OMIM_619406-HP_0000007-GENCC_100002"	"HGNC:6262"	"KCNJ16"	"MONDO:0859167"	"hypokalemic tubulopathy and deafness"	"OMIM:619406"	"Hypokalemic tubulopathy and deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6262"	"KCNJ16"	"OMIM:619406"	"Hypokalemic tubulopathy and deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-24 22:15:49"	""	""	"26663529, 37466410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KCNJ160KCNJ16rel"	"2023-11-30"
"GENCC_000106-HGNC_9069-OMIM_131950-HP_0000006-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0007555"	"epidermolysis bullosa simplex 5A, Ogna type"	"OMIM:131950"	"Epidermolysis bullosa simplex 5A, Ogna type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9069"	"PLEC"	"OMIM:131950"	"pidermolysis bullosa simplex 5A, Ogna type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:53:29"	""	""	"11851880, 22854623"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLEC0EBS"	"2023-11-30"
"GENCC_000106-HGNC_9069-OMIM_612138-HP_0000007-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0012807"	"epidermolysis bullosa simplex 5C, with pyloric atresia"	"OMIM:612138"	"Epidermolysis bullosa simplex 5C, with pyloric atresia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9069"	"PLEC"	"OMIM:612138"	"epidermolysis bullosa simplex 5C, with pyloric atresia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-07 21:01:51"	""	""	"15654962, 20301336, 20447487, 23289980, 25530118"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLEC0EBS03"	"2023-11-30"
"GENCC_000106-HGNC_9069-OMIM_613723-HP_0000007-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0013390"	"autosomal recessive limb-girdle muscular dystrophy type 2Q"	"OMIM:613723"	"Muscular dystrophy, limb-girdle, autosomal recessive 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9069"	"PLEC"	"OMIM:613723"	"autosomal recessive limb-girdle muscular dystrophy type 2Q"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-06 12:34:48"	""	""	"20624679, 21109228, 25556389, 25987458, 27234031, 28403181, 28447722, 28824526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLEC0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_29105-OMIM_615376-HP_0000007-GENCC_100002"	"HGNC:29105"	"PLEKHG5"	"MONDO:0014154"	"Charcot-Marie-Tooth disease recessive intermediate C"	"OMIM:615376"	"Charcot-Marie-Tooth disease, recessive intermediate C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29105"	"PLEKHG5"	"OMIM:615376"	"Charcot-Marie-Tooth disease recessive intermediate C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:11:56"	""	""	"23777631"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLEKHG50CMT"	"2023-11-30"
"GENCC_000106-HGNC_29105-OMIM_611067-HP_0000007-GENCC_100002"	"HGNC:29105"	"PLEKHG5"	"MONDO:0012608"	"neuronopathy, distal hereditary motor, autosomal recessive 4"	"OMIM:611067"	"Neuronopathy, distal hereditary motor, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29105"	"PLEKHG5"	"OMIM:611067"	"autosomal recessive lower motor neuron disease with childhood onset"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:52:46"	""	""	"17564964"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLEKHG50HMN"	"2023-11-30"
"GENCC_000106-HGNC_29017-OMIM_618107-HP_0000005-GENCC_100004"	"HGNC:29017"	"PLEKHM1"	"MONDO:0020848"	"osteopetrosis, autosomal dominant 3"	"OMIM:618107"	"Osteopetrosis, autosomal dominant 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29017"	"PLEKHM1"	"OMIM:618107"	"osteopetrosis, autosomal dominant 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-09-10 10:46:48"	""	""	"17404618, 17997709, 26273529, 27291868"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLEKHM10Osteopetrosis"	"2023-11-30"
"GENCC_000106-HGNC_9071-OMIM_619360-HP_0000006-GENCC_100002"	"HGNC:9071"	"PLG"	"MONDO:0025712"	"angioedema, hereditary, 4"	"OMIM:619360"	"Angioedema, hereditary, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9071"	"PLG"	"OMIM:619360"	"Angioedema, hereditary, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 13:25:16"	""	""	"28795768, 29548426, 29987869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLG0Angioedema"	"2023-11-30"
"GENCC_000106-HGNC_9071-OMIM_217090-HP_0000007-GENCC_100002"	"HGNC:9071"	"PLG"	"MONDO:0009009"	"hypoplasminogenemia"	"OMIM:217090"	"Plasminogen deficiency, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9071"	"PLG"	"OMIM:217090"	"hypoplasminogenemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-17 03:53:32"	""	""	"11434676, 16849641, 9242524, 9834305"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLG0PlasminogenDef"	"2023-11-30"
"GENCC_000106-HGNC_9076-OMIM_613877-HP_0000006-GENCC_100002"	"HGNC:9076"	"PLIN1"	"MONDO:0013478"	"PLIN1-related familial partial lipodystrophy"	"OMIM:613877"	"Lipodystrophy, familial partial, type 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9076"	"PLIN1"	"OMIM:613877"	"PLIN1-related familial partial lipodystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:32"	""	""	"11101849, 11371650, 16595669, 18719666, 21345103, 21757733, 25114292, 29747582, 31504636"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLIN10Lipodyst03"	"2023-11-30"
"GENCC_000106-HGNC_9080-OMIM_609909-HP_0000006-GENCC_100002"	"HGNC:9080"	"PLN"	"MONDO:0012362"	"dilated cardiomyopathy 1P"	"OMIM:609909"	"Cardiomyopathy, dilated, 1P"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9080"	"PLN"	"OMIM:609909"	"dilated cardiomyopathy 1P"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-20 08:29:17"	""	""	"12639993, 17655857, 21167350, 22707725, 24503780, 24909667"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLN0DCM"	"2023-11-30"
"GENCC_000106-HGNC_9080-OMIM_613874-HP_0000006-GENCC_100002"	"HGNC:9080"	"PLN"	"MONDO:0013475"	"hypertrophic cardiomyopathy 18"	"OMIM:613874"	"Cardiomyopathy, hypertrophic, 18"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9080"	"PLN"	"OMIM:613874"	"hypertrophic cardiomyopathy 18"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-30 12:28:26"	""	""	"12639993, 17655857, 21167350, 22707725, 24503780, 24909667, 26573135, 28771489, 28790153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLN0HCM"	"2023-11-30"
"GENCC_000106-HGNC_9083-OMIM_612394-HP_0000007-GENCC_100002"	"HGNC:9083"	"PLOD3"	"MONDO:0012892"	"bone fragility with contractures, arterial rupture, and deafness"	"OMIM:612394"	"BCARD syndrome (lysyl hydroxylase 3 deficiency)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9083"	"PLOD3"	"OMIM:612394"	"bone fragility with contractures, arterial rupture, and deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"15377789, 16467571, 18834968, 30237576, 30463024, 31129566"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLOD30LH3Deficiency"	"2023-11-30"
"GENCC_000106-HGNC_9090-OMIM_618787-HP_0000006-GENCC_100002"	"HGNC:9090"	"PLS1"	"MONDO:0032917"	"hearing loss, autosomal dominant 76"	"OMIM:618787"	"Deafness, autosomal dominant 76"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9090"	"PLS1"	"OMIM:618787"	"hearing loss, autosomal dominant 76"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-22 19:52:29"	""	""	"30872814, 31397523, 31432506, 36537221"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLS10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_2717-OMIM_619426-HP_0000006-GENCC_100002"	"HGNC:2717"	"DDB1"	"MONDO:0859169"	"White-Kernohan syndrome"	"OMIM:619426"	"White-Kernohan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2717"	"DDB1"	"OMIM:619426"	"White-Kernohan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 07:37:24"	""	""	"33743206"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DDB10DDB1rel"	"2023-11-30"
"GENCC_000106-HGNC_11438-OMIM_619446-HP_0000007-GENCC_100002"	"HGNC:11438"	"STX3"	"MONDO:0859170"	"retinal dystrophy and microvillus inclusion disease"	"OMIM:619446"	"Retinal dystrophy and microvillus inclusion disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11438"	"STX3"	"OMIM:619446"	"Retinal dystrophy and microvillus inclusion disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 08:08:30"	""	""	"24726755"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STX30Microvil"	"2023-11-30"
"GENCC_000106-HGNC_24286-OMIM_619453-HP_0000007-GENCC_100004"	"HGNC:24286"	"RRP7A"	"MONDO:0030339"	"microcephaly 28, primary, autosomal recessive"	"OMIM:619453"	"?Microcephaly 28, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24286"	"RRP7A"	"OMIM:619453"	"?Microcephaly 28, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-03 09:23:01"	""	""	"33199730"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RRP7A0MCPH"	"2023-11-30"
"GENCC_000106-HGNC_17728-OMIM_618112-HP_0000007-GENCC_100002"	"HGNC:17728"	"PMFBP1"	"MONDO:0020852"	"spermatogenic failure 31"	"OMIM:618112"	"Spermatogenic failure 31"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17728"	"PMFBP1"	"OMIM:618112"	"spermatogenic failure 31"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 20:59:24"	""	""	"30032984, 30298696"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMFBP10AcephSperm"	"2023-11-30"
"GENCC_000106-HGNC_9115-OMIM_212065-HP_0000007-GENCC_100002"	"HGNC:9115"	"PMM2"	"MONDO:0008907"	"PMM2-congenital disorder of glycosylation"	"OMIM:212065"	"Congenital disorder of glycosylation, type Ia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9115"	"PMM2"	"OMIM:212065"	"PMM2-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-17 13:53:22"	""	""	"10922383, 19862844, 22157680"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMM20PMM2CDG"	"2023-11-30"
"GENCC_000106-HGNC_9118-OMIM_118220-HP_0000006-GENCC_100002"	"HGNC:9118"	"PMP22"	"MONDO:0007309"	"Charcot-Marie-Tooth disease type 1A"	"OMIM:118220"	"Charcot-Marie-Tooth disease, type 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9118"	"PMP22"	"OMIM:118220"	"Charcot-Marie-Tooth disease type 1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-22 11:39:11"	""	""	"118220, 23224996, 24175617, 601097"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMP220CMT"	"2023-11-30"
"GENCC_000106-HGNC_9118-OMIM_118300-HP_0000006-GENCC_100002"	"HGNC:9118"	"PMP22"	"MONDO:0007311"	"Charcot-Marie-Tooth disease type 1E"	"OMIM:118300"	"Charcot-Marie-Tooth disease, type 1E"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9118"	"PMP22"	"OMIM:118300"	"Charcot-Marie-Tooth disease type 1E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-13 21:14:26"	""	""	"10330345, 24175617, 601097"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMP220CMT02"	"2023-11-30"
"GENCC_000106-HGNC_9118-OMIM_162500-HP_0000006-GENCC_100002"	"HGNC:9118"	"PMP22"	"MONDO:0008087"	"hereditary neuropathy with liability to pressure palsies"	"OMIM:162500"	"Neuropathy, recurrent, with pressure palsies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9118"	"PMP22"	"OMIM:162500"	"hereditary neuropathy with liability to pressure palsies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 07:14:45"	""	""	"162500, 23224996, 601097, 7931393, 9143558"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMP220HNPP"	"2023-11-30"
"GENCC_000106-HGNC_18667-OMIM_213200-HP_0000007-GENCC_100002"	"HGNC:18667"	"PMPCA"	"MONDO:0008943"	"autosomal recessive spinocerebellar ataxia 2"	"OMIM:213200"	"Spinocerebellar ataxia, autosomal recessive 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18667"	"PMPCA"	"OMIM:213200"	"autosomal recessive spinocerebellar ataxia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-14 07:15:35"	""	""	"25808372, 27148589"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMPCA0SCAR"	"2023-11-30"
"GENCC_000106-HGNC_9122-OMIM_619101-HP_0000007-GENCC_100002"	"HGNC:9122"	"PMS2"	"MONDO:0030843"	"mismatch repair cancer syndrome 4"	"OMIM:619101"	"Mismatch repair cancer syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9122"	"PMS2"	"OMIM:619101"	"Mismatch repair cancer syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-17 13:40:12"	""	""	"21376568, 24362816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMS20CMMRD"	"2023-11-30"
"GENCC_000106-HGNC_9122-OMIM_614337-HP_0000006-GENCC_100002"	"HGNC:9122"	"PMS2"	"MONDO:0013699"	"Lynch syndrome 4"	"OMIM:614337"	"Lynch syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9122"	"PMS2"	"OMIM:614337"	"Lynch syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 19:18:59"	""	""	"15256438, 16873062, 18022218, 18602922, 20624957, 21376568, 24362816, 26657901, 28754778, 30161022, 31204389, 31337882, 32285031, 9328148"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMS20Lynch"	"2023-11-30"
"GENCC_000106-HGNC_9141-OMIM_175800-HP_0000006-GENCC_100002"	"HGNC:9141"	"PMVK"	"MONDO:0008290"	"porokeratosis 1, Mibelli type"	"OMIM:175800"	"Porokeratosis 1, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9141"	"PMVK"	"OMIM:175800"	"porokeratosis 1, Mibelli type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:22"	""	""	"26202976, 27052676, 29722423, 30942823"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PMVK0Porokera02"	"2023-11-30"
"GENCC_000106-HGNC_3430-OMIM_619465-HP_0000005-GENCC_100004"	"HGNC:3430"	"ERBB2"	"MONDO:0030399"	"visceral neuropathy, familial, 2, autosomal recessive"	"OMIM:619465"	"?Visceral neuropathy, familial, 2, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:3430"	"ERBB2"	"OMIM:619465"	"?Visceral neuropathy, familial, 2, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-03 09:11:25"	""	""	"33497358"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ERBB20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_21185-OMIM_619528-HP_0000005-GENCC_100004"	"HGNC:21185"	"PNLDC1"	"MONDO:0030439"	"spermatogenic failure 57"	"OMIM:619528"	"Spermatogenic failure 57"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21185"	"PNLDC1"	"OMIM:619528"	"Spermatogenic failure 57"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-27 12:00:16"	""	""	"27260655, 34347949"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNLDC10PNLDC1rel"	"2023-11-30"
"GENCC_000106-HGNC_9155-OMIM_614338-HP_0000007-GENCC_100002"	"HGNC:9155"	"PNLIP"	"MONDO:0013700"	"pancreatic triacylglycerol lipase deficiency"	"OMIM:614338"	"?Pancreatic lipase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9155"	"PNLIP"	"OMIM:614338"	"pancreatic triacylglycerol lipase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:07"	""	""	"24262094, 25862608, 31977950, 35284057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNLIP0PNLIP"	"2023-11-30"
"GENCC_000106-HGNC_30802-OMIM_610717-HP_0000007-GENCC_100002"	"HGNC:30802"	"PNPLA2"	"MONDO:0012545"	"neutral lipid storage myopathy"	"OMIM:610717"	"Neutral lipid storage disease with myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30802"	"PNPLA2"	"OMIM:610717"	"neutral lipid storage myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:50"	""	""	"16675698, 17187067, 21073837, 21544567, 22964912, 25956450"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNPLA20NLSD"	"2023-11-30"
"GENCC_000106-HGNC_555-OMIM_619467-HP_0000006-GENCC_100002"	"HGNC:555"	"AP1G1"	"MONDO:0859174"	"Usmani-Riazuddin syndrome, autosomal dominant"	"OMIM:619467"	"Usmani-Riazuddin syndrome, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:555"	"AP1G1"	"OMIM:619467"	"Usmani-Riazuddin syndrome, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-14 15:03:37"	""	""	"34102099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP1G10Neurodev02"	"2023-11-30"
"GENCC_000106-HGNC_28900-OMIM_251950-HP_0000007-GENCC_100002"	"HGNC:28900"	"PNPLA8"	"MONDO:0016825"	"mitochondrial myopathy-lactic acidosis-deafness syndrome"	"OMIM:251950"	"?Mitochondrial myopathy with lactic acidosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28900"	"PNPLA8"	"OMIM:251950"	"mitochondrial myopathy-lactic acidosis-deafness syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-06 15:29:36"	""	""	"19840936, 25473036, 25512002, 29681094, 37671596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNPLA80?Mitocho"	"2023-11-30"
"GENCC_000106-HGNC_30260-OMIM_610090-HP_0000007-GENCC_100002"	"HGNC:30260"	"PNPO"	"MONDO:0012407"	"pyridoxal phosphate-responsive seizures"	"OMIM:610090"	"Pyridoxamine 5'-phosphate oxidase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30260"	"PNPO"	"OMIM:610090"	"pyridoxal phosphate-responsive seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 12:46:11"	""	""	"15772097, 18024216, 24645144"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNPO0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_23166-OMIM_614934-HP_0000005-GENCC_100004"	"HGNC:23166"	"PNPT1"	"MONDO:0013978"	"autosomal recessive nonsyndromic hearing loss 70"	"OMIM:614934"	"Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23166"	"PNPT1"	"OMIM:614934"	"autosomal recessive nonsyndromic hearing loss 70"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-17 07:11:05"	""	""	"23084290, 23084291, 25457163"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNPT10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_23166-OMIM_614932-HP_0000007-GENCC_100002"	"HGNC:23166"	"PNPT1"	"MONDO:0013977"	"combined oxidative phosphorylation defect type 13"	"OMIM:614932"	"Combined oxidative phosphorylation deficiency 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23166"	"PNPT1"	"OMIM:614932"	"combined oxidative phosphorylation defect type 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-14 07:22:19"	""	""	"23084290, 23084291, 25457163, 2775903, 28594066, 30244537, 30831263, 31752325"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PNPT10OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_24488-OMIM_614813-HP_0000007-GENCC_100002"	"HGNC:24488"	"POC1A"	"MONDO:0013894"	"short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"	"OMIM:614813"	"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24488"	"POC1A"	"OMIM:614813"	"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 09:32:22"	""	""	"22840364, 249820, 251354, 26336158, 26374189, 26791357"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POC1A0ShortSta02"	"2023-11-30"
"GENCC_000106-HGNC_22954-OMIM_615696-HP_0000006-GENCC_100002"	"HGNC:22954"	"POGLUT1"	"MONDO:0014307"	"Dowling-Degos disease 4"	"OMIM:615696"	"Dowling-Degos disease 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:22954"	"POGLUT1"	"OMIM:615696"	"Dowling-Degos disease 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 15:25:49"	""	""	"24387993, 27807076"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POGLUT10DowlingDegos"	"2023-11-30"
"GENCC_000106-HGNC_22954-OMIM_617232-HP_0000007-GENCC_100002"	"HGNC:22954"	"POGLUT1"	"MONDO:0014977"	"autosomal recessive limb-girdle muscular dystrophy type 2R1"	"OMIM:617232"	"Muscular dystrophy, limb-girdle, autosomal recessive 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:22954"	"POGLUT1"	"OMIM:617232"	"Muscular dystrophy, limb-girdle, autosomal recessive 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-17 16:46:08"	""	""	"31897643, 37213117"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POGLUT10LGMD"	"2023-11-30"
"GENCC_000106-HGNC_9173-OMIM_301220-HP_0001417-GENCC_100002"	"HGNC:9173"	"POLA1"	"MONDO:0010523"	"X-linked reticulate pigmentary disorder"	"OMIM:301220"	"Pigmentary disorder, reticulate, with systemic manifestations, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9173"	"POLA1"	"OMIM:301220"	"X-linked reticulate pigmentary disorder"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:05"	""	""	"27019227, 28407217"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLA10PigmentReticula"	"2023-11-30"
"GENCC_000106-HGNC_9173-OMIM_301030-HP_0001417-GENCC_100002"	"HGNC:9173"	"POLA1"	"MONDO:0015601"	"X-linked intellectual disability, van Esch type"	"OMIM:301030"	"Van Esch-O'Driscoll syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9173"	"POLA1"	"OMIM:301030"	"X-linked intellectual disability, van Esch type"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-18 07:22:05"	""	""	"31006512, 34119699"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLA10Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_9175-OMIM_615381-HP_0000006-GENCC_100002"	"HGNC:9175"	"POLD1"	"MONDO:0014157"	"mandibular hypoplasia-deafness-progeroid syndrome"	"OMIM:615381"	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9175"	"POLD1"	"OMIM:615381"	"mandibular hypoplasia-deafness-progeroid syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-27 08:20:39"	""	""	"23770608, 25131834, 26172944, 26350127, 28521875"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLD10MDPL"	"2023-11-30"
"GENCC_000106-HGNC_9175-OMIM_612591-HP_0000006-GENCC_100002"	"HGNC:9175"	"POLD1"	"MONDO:0012953"	"colorectal cancer, susceptibility to, 10"	"OMIM:612591"	"{Colorectal cancer, susceptibility to, 10}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9175"	"POLD1"	"OMIM:612591"	"colorectal cancer, susceptibility to, 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-21 10:44:04"	""	""	"15814431, 23263490, 23447401, 24501277, 24509466, 25370038, 25529843, 26133394, 28423643, 29120461, 31866764, 32265515, 32792570"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLD10POLD1relCanc"	"2023-11-30"
"GENCC_000106-HGNC_9177-OMIM_615139-HP_0000007-GENCC_100002"	"HGNC:9177"	"POLE"	"MONDO:0014058"	"facial dysmorphism-immunodeficiency-livedo-short stature syndrome"	"OMIM:615139"	"FILS syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9177"	"POLE"	"OMIM:615139"	"facial dysmorphism-immunodeficiency-livedo-short stature syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-24 10:25:33"	""	""	"23230001, 25948378, 30503519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLE0FILS"	"2023-11-30"
"GENCC_000106-HGNC_9177-OMIM_615083-HP_0000006-GENCC_100002"	"HGNC:9177"	"POLE"	"MONDO:0014038"	"colorectal cancer, susceptibility to, 12"	"OMIM:615083"	"{Colorectal cancer, susceptibility to, 12}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9177"	"POLE"	"OMIM:615083"	"colorectal cancer, susceptibility to, 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 17:17:33"	""	""	"23263490, 23585368, 24501277, 24788313, 25370038, 25529843, 26133394, 26822575, 27573199, 28423643, 29120461, 30086056, 31866764, 32424176, 32792570, 34816535"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLE0POLErelCanc"	"2023-11-30"
"GENCC_000106-HGNC_9179-OMIM_157640-HP_0000006-GENCC_100002"	"HGNC:9179"	"POLG"	"MONDO:0024528"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"	"OMIM:157640"	"Progressive external ophthalmoplegia, autosomal dominant 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9179"	"POLG"	"OMIM:157640"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:22"	""	""	"11431686, 12210792, 15351195, 16682683, 21696159, 27987238, 31843010, 32613234, 35861376, 37256495"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLG0POLGrelated"	"2023-11-30"
"GENCC_000106-HGNC_9179-OMIM_203700-HP_0000007-GENCC_100002"	"HGNC:9179"	"POLG"	"MONDO:0008758"	"mitochondrial DNA depletion syndrome 4a"	"OMIM:203700"	"Mitochondrial DNA depletion syndrome 4A (Alpers type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9179"	"POLG"	"OMIM:203700"	"mitochondrial DNA depletion syndrome 4a"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 10:20:26"	""	""	"15164064, 15351195, 16634032, 18321754, 18546365, 24122062, 27185166, 31613174, 36518302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLG0POLGrelated02"	"2023-11-30"
"GENCC_000106-HGNC_9180-OMIM_610131-HP_0000006-GENCC_100002"	"HGNC:9180"	"POLG2"	"MONDO:0012415"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"	"OMIM:610131"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9180"	"POLG2"	"OMIM:610131"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-07 13:28:27"	""	""	"16685652, 20405137, 21555342, 22494545, 23596069, 26123486, 28078310, 29625556, 30157269"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLG20PEO"	"2023-11-30"
"GENCC_000106-HGNC_17264-OMIM_616462-HP_0000006-GENCC_100002"	"HGNC:17264"	"POLR1A"	"MONDO:0014651"	"acrofacial dysostosis Cincinnati type"	"OMIM:616462"	"Acrofacial dysostosis, Cincinnati type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17264"	"POLR1A"	"OMIM:616462"	"acrofacial dysostosis Cincinnati type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-24 20:06:56"	""	""	"25913037, 31178897"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR1A0AFD"	"2023-11-30"
"GENCC_000106-HGNC_20454-OMIM_618939-HP_0000006-GENCC_100002"	"HGNC:20454"	"POLR1B"	"MONDO:0030067"	"Treacher Collins syndrome 4"	"OMIM:618939"	"Treacher-Collins syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20454"	"POLR1B"	"OMIM:618939"	"Treacher-Collins syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-07 06:55:01"	""	""	"31649276"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR1B0TreacherCollins"	"2023-11-30"
"GENCC_000106-HGNC_20194-OMIM_616494-HP_0000007-GENCC_100002"	"HGNC:20194"	"POLR1C"	"MONDO:0014666"	"hypomyelinating leukodystrophy 11"	"OMIM:616494"	"Leukodystrophy, hypomyelinating, 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20194"	"POLR1C"	"OMIM:616494"	"hypomyelinating leukodystrophy 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-22 15:26:58"	""	""	"251486, 251496, 26151409, 27159321, 282834, 32042905"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR1C0Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_20194-OMIM_248390-HP_0000007-GENCC_100002"	"HGNC:20194"	"POLR1C"	"MONDO:0009558"	"Treacher Collins syndrome 3"	"OMIM:248390"	"Treacher Collins syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20194"	"POLR1C"	"OMIM:248390"	"Treacher Collins syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-05-27 14:03:05"	""	""	"3515625, 21131976, 251406, 251484, 26151409, 26972049, 27448281, 282838, 29567474, 30957429, 32042905"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR1C0TreacherCollins"	"2023-11-30"
"GENCC_000106-HGNC_9187-OMIM_618603-HP_0000006-GENCC_100002"	"HGNC:9187"	"POLR2A"	"MONDO:0032829"	"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"OMIM:618603"	"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9187"	"POLR2A"	"OMIM:618603"	"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 20:35:14"	""	""	"31353023"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR2A0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_30074-OMIM_607694-HP_0000007-GENCC_100002"	"HGNC:30074"	"POLR3A"	"MONDO:0011897"	"leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome"	"OMIM:607694"	"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30074"	"POLR3A"	"OMIM:607694"	"odontoleukodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-25 20:19:45"	""	""	"21855841, 23355746, 25339210"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR3A0Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_9853-OMIM_619472-HP_0000007-GENCC_100002"	"HGNC:9853"	"IPO8"	"MONDO:0859177"	"VISS syndrome"	"OMIM:619472"	"VISS syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9853"	"IPO8"	"OMIM:619472"	"VISS syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-20 14:25:50"	""	""	"34010605, 33875846, 34010604"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IPO80VISS0Syn"	"2023-11-30"
"GENCC_000106-HGNC_11465-OMIM_619480-HP_0000006-GENCC_100002"	"HGNC:11465"	"SUPT16H"	"MONDO:0859179"	"neurodevelopmental disorder with dysmorphic facies and thin corpus callosum"	"OMIM:619480"	"Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11465"	"SUPT16H"	"OMIM:619480"	"Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-19 21:08:23"	""	""	"26834018, 27519580, 30670789, 31823155, 31924697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUPT16H0SUPT16Hrel"	"2023-11-30"
"GENCC_000106-HGNC_29956-OMIM_619481-HP_0000005-GENCC_100004"	"HGNC:29956"	"SLC51B"	"MONDO:0859180"	"bile acid malabsorption, primary, 2"	"OMIM:619481"	"?Bile acid malabsorption, primary, 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29956"	"SLC51B"	"OMIM:619481"	"?Bile acid malabsorption, primary, 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-22 08:27:24"	""	""	"28898457"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC51B0SLC51Brel"	"2023-11-30"
"GENCC_000106-HGNC_13879-OMIM_619482-HP_0000007-GENCC_100004"	"HGNC:13879"	"MYO1H"	"MONDO:0030537"	"central hypoventilation syndrome, congenital, 2, and autonomic dysfunction"	"OMIM:619482"	"?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13879"	"MYO1H"	"OMIM:619482"	"?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-12 13:48:22"	""	""	"28779001, 30366217"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO1H0CCHS"	"2023-11-30"
"GENCC_000106-HGNC_34033-OMIM_619487-HP_0000007-GENCC_100002"	"HGNC:34033"	"RNU7-1"	"MONDO:0030362"	"Aicardi-Goutieres syndrome 9"	"OMIM:619487"	"Aicardi-Goutieres syndrome 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:34033"	"RNU7-1"	"OMIM:619487"	"Aicardi-Goutieres syndrome 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 16:45:21"	""	""	"33230297, 35320431"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNU7-10AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_24750-OMIM_619488-HP_0000007-GENCC_100002"	"HGNC:24750"	"ZNF699"	"MONDO:0859181"	"DEGCAGS syndrome"	"OMIM:619488"	"DEGCAGS syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24750"	"ZNF699"	"OMIM:619488"	"DEGCAGS syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-27 07:05:48"	""	""	"33875846, 35205213"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF6990DEGCAGSsyn"	"2023-11-30"
"GENCC_000106-HGNC_19139-OMIM_253280-HP_0000007-GENCC_100002"	"HGNC:19139"	"POMGNT1"	"MONDO:0009667"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3"	"OMIM:253280"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19139"	"POMGNT1"	"OMIM:253280"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:37:21"	""	""	"17878207, 19299310, 20816175, 20816176, 253280, 28688748, 613151, 613157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMGNT10ADG"	"2023-11-30"
"GENCC_000106-HGNC_19139-OMIM_617123-HP_0000007-GENCC_100002"	"HGNC:19139"	"POMGNT1"	"MONDO:0014929"	"retinitis pigmentosa 76"	"OMIM:617123"	"Retinitis pigmentosa 76"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19139"	"POMGNT1"	"OMIM:617123"	"retinitis pigmentosa 76"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-26 10:24:47"	""	""	"12588800, 21447391, 26908613, 27391550"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMGNT10RP"	"2023-11-30"
"GENCC_000106-HGNC_25902-OMIM_614830-HP_0000007-GENCC_100002"	"HGNC:25902"	"POMGNT2"	"MONDO:0013904"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8"	"OMIM:614830"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25902"	"POMGNT2"	"OMIM:614830"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-04 09:25:54"	""	""	"22958903, 24256719, 2606116, 26436962, 27066570"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMGNT20ADG"	"2023-11-30"
"GENCC_000106-HGNC_26267-OMIM_615249-HP_0000007-GENCC_100002"	"HGNC:26267"	"POMK"	"MONDO:0014101"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"	"OMIM:615249"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26267"	"POMK"	"OMIM:615249"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 14:03:39"	""	""	"24925318"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMK0ADG"	"2023-11-30"
"GENCC_000106-HGNC_20330-OMIM_618048-HP_0000006-GENCC_100002"	"HGNC:20330"	"POMP"	"MONDO:0054700"	"proteasome-associated autoinflammatory syndrome 2"	"OMIM:618048"	"Proteasome-associated autoinflammatory syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20330"	"POMP"	"OMIM:618048"	"proteasome-associated autoinflammatory syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 18:01:14"	""	""	"26524591, 26615982, 29805043"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMP0CANDLE"	"2023-11-30"
"GENCC_000106-HGNC_20330-OMIM_601952-HP_0000007-GENCC_100002"	"HGNC:20330"	"POMP"	"MONDO:0011169"	"keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"	"OMIM:601952"	"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20330"	"POMP"	"OMIM:601952"	"keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-22 18:39:26"	""	""	"20226437, 27503413, 28973083"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMP0Keratosi03"	"2023-11-30"
"GENCC_000106-HGNC_14615-OMIM_619489-HP_0000007-GENCC_100002"	"HGNC:14615"	"PAPPA2"	"MONDO:0859182"	"Short stature, Dauber-Argente type"	"OMIM:619489"	"Short stature, Dauber-Argente type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14615"	"PAPPA2"	"OMIM:619489"	"Short stature, Dauber-Argente type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:12:04"	""	""	"26902202, 30977789"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PAPPA20ShortStature"	"2023-11-30"
"GENCC_000106-HGNC_19743-OMIM_613150-HP_0000007-GENCC_100002"	"HGNC:19743"	"POMT2"	"MONDO:0013154"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2"	"OMIM:613150"	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19743"	"POMT2"	"OMIM:613150"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 20:36:44"	""	""	"14699049, 15271988, 15894594, 19138766"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POMT20ADG"	"2023-11-30"
"GENCC_000106-HGNC_17649-OMIM_618848-HP_0000007-GENCC_100002"	"HGNC:17649"	"POPDC3"	"MONDO:0030014"	"muscular dystrophy, limb-girdle, autosomal recessive 26"	"OMIM:618848"	"Muscular dystrophy, limb-girdle, autosomal recessive 26"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17649"	"POPDC3"	"OMIM:618848"	"muscular dystrophy, limb-girdle, autosomal recessive 26"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-02 15:00:40"	""	""	"31610034, 35842834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POPDC30LGMD"	"2023-11-30"
"GENCC_000106-HGNC_9208-OMIM_613571-HP_0000007-GENCC_100002"	"HGNC:9208"	"POR"	"MONDO:0013310"	"congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"	"OMIM:613571"	"Disordered steroidogenesis due to cytochrome P450 oxidoreductase"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9208"	"POR"	"OMIM:613571"	"Disordered steroidogenesis due to cytochrome P450 oxidoreductase"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-20 14:33:22"	""	""	"12917333, 14758361, 15793702, 20732302, 21190981, 21741353, 22162478"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POR0DisorderedSter"	"2023-11-30"
"GENCC_000106-HGNC_17284-OMIM_620367-HP_0000006-GENCC_100002"	"HGNC:17284"	"POT1"	"MONDO:0957263"	"pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8"	"OMIM:620367"	"?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17284"	"POT1"	"OMIM:620367"	"?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:46:29"	""	""	"37215005, 37466057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POT10TelomereBioDs"	"2023-11-30"
"GENCC_000106-HGNC_9210-OMIM_613038-HP_0000007-GENCC_100002"	"HGNC:9210"	"POU1F1"	"MONDO:0024464"	"pituitary hormone deficiency, combined, 1"	"OMIM:613038"	"Pituitary hormone deficiency, combined or isolated, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9210"	"POU1F1"	"OMIM:613038"	"pituitary hormone deficiency, combined, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-04 10:50:46"	""	""	"121378, 12629113, 12932747, 1302000, 1472057, 1509262, 15844473, 15928241, 21521297, 251292, 251322, 7670563, 7833912, 9392392, 9485179"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POU1F10PituitaryDef"	"2023-11-30"
"GENCC_000106-HGNC_9210-OMIM_613038-HP_0000006-GENCC_100002"	"HGNC:9210"	"POU1F1"	"MONDO:0024464"	"pituitary hormone deficiency, combined, 1"	"OMIM:613038"	"Pituitary hormone deficiency, combined or isolated, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9210"	"POU1F1"	"OMIM:613038"	"pituitary hormone deficiency, combined, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-04 10:50:46"	""	""	"12904605, 1509262, 15670191, 15928241, 20389107, 23397938, 7833912, 9392392, 9588494"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POU1F10PituitaryDef02"	"2023-11-30"
"GENCC_000106-HGNC_9216-OMIM_618604-HP_0000006-GENCC_100002"	"HGNC:9216"	"POU3F3"	"MONDO:0032830"	"snijders blok-fisher syndrome"	"OMIM:618604"	"Snijders Blok-Fisher syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9216"	"POU3F3"	"OMIM:618604"	"snijders blok-fisher syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-12 16:20:04"	""	""	"31303265"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POU3F30SBFsyndrome"	"2023-11-30"
"GENCC_000106-HGNC_9218-OMIM_619352-HP_0000006-GENCC_100002"	"HGNC:9218"	"POU4F1"	"MONDO:0859158"	"ataxia, intention tremor, and hypotonia syndrome, childhood-onset"	"OMIM:619352"	"Ataxia, intention tremor, and hypotonia syndrome, childhood-onset"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9218"	"POU4F1"	"OMIM:619352"	"ataxia, intention tremor, and hypotonia syndrome, childhood-onset"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-15 10:47:49"	""	""	"33783914"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POU4F10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_9236-OMIM_604367-HP_0000006-GENCC_100002"	"HGNC:9236"	"PPARG"	"MONDO:0011448"	"PPARG-related familial partial lipodystrophy"	"OMIM:604367"	"Lipodystrophy, familial partial, type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9236"	"PPARG"	"OMIM:604367"	"PPARG-related familial partial lipodystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 09:05:21"	""	""	"16412238, 16965332, 23393388, 26046366, 27823605"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPARG0Lipodyst04"	"2023-11-30"
"GENCC_000106-HGNC_25686-OMIM_618189-HP_0000007-GENCC_100002"	"HGNC:25686"	"PPCS"	"MONDO:0032592"	"cardiomyopathy, dilated, 2c"	"OMIM:618189"	"Cardiomyopathy, dilated, 2C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25686"	"PPCS"	"OMIM:618189"	"cardiomyopathy, dilated, 2c"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-30 16:13:44"	""	""	"29754768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPCS0DCM"	"2023-11-30"
"GENCC_000106-HGNC_9498-OMIM_619491-HP_0000005-GENCC_100004"	"HGNC:9498"	"PSAP"	"MONDO:0859183"	"Parkinson disease 24, autosomal dominant, susceptibility to"	"OMIM:619491"	"{Parkinson disease 24, autosomal dominant, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9498"	"PSAP"	"OMIM:619491"	"{Parkinson disease 24, autosomal dominant, susceptibility to}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-20 08:41:19"	""	""	"32201884, 33793763"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSAP0PSAPrel"	"2023-11-30"
"GENCC_000106-HGNC_9260-OMIM_619301-HP_0000007-GENCC_100002"	"HGNC:9260"	"PPIL1"	"MONDO:0030258"	"pontocerebellar hypoplasia, type 14"	"OMIM:619301"	"Pontocerebellar hypoplasia, type 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9260"	"PPIL1"	"OMIM:619301"	"pontocerebellar hypoplasia, type 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-16 22:30:39"	""	""	"33220177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPIL10PCH"	"2023-11-30"
"GENCC_000106-HGNC_29035-OMIM_618422-HP_0000005-GENCC_100004"	"HGNC:29035"	"PPIP5K2"	"MONDO:0032740"	"hearing loss, autosomal recessive 100"	"OMIM:618422"	"Deafness, autosomal recessive 100"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29035"	"PPIP5K2"	"OMIM:618422"	"hearing loss, autosomal recessive 100"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-06-03 13:56:18"	""	""	"29590114"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPIP5K20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_9277-OMIM_617450-HP_0000006-GENCC_100002"	"HGNC:9277"	"PPM1D"	"MONDO:0044318"	"intellectual developmental disorder with gastrointestinal difficulties and high pain threshold"	"OMIM:617450"	"Jansen-de Vries syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9277"	"PPM1D"	"OMIM:617450"	"intellectual developmental disorder with gastrointestinal difficulties and high pain threshold"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:34:49"	""	""	"28343630, 37183572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPM1D0ID"	"2023-11-30"
"GENCC_000106-HGNC_25415-OMIM_615135-HP_0000005-GENCC_100004"	"HGNC:25415"	"PPM1K"	"MONDO:0014057"	"maple syrup urine disease, mild variant"	"OMIM:615135"	"Maple syrup urine disease, mild variant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25415"	"PPM1K"	"OMIM:615135"	"maple syrup urine disease, mild variant"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:53"	""	""	"19411760, 22912587, 23086801"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPM1K0MapleSyrup"	"2023-11-30"
"GENCC_000106-HGNC_7618-OMIM_618820-HP_0000006-GENCC_100002"	"HGNC:7618"	"PPP1R12A"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"OMIM:618820"	"Genitourinary and/or/brain malformation syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7618"	"PPP1R12A"	"OMIM:618820"	"genitourinary and/or brain malformation syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 15:24:11"	""	""	"26113782, 28191890, 28941034, 31883643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP1R12A0PPP1R12A-rel"	"2023-11-30"
"GENCC_000106-HGNC_14951-OMIM_616817-HP_0000007-GENCC_100004"	"HGNC:14951"	"PPP1R15B"	"MONDO:0014785"	"microcephaly, short stature, and impaired glucose metabolism 2"	"OMIM:616817"	"Microcephaly, short stature, and impaired glucose metabolism 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14951"	"PPP1R15B"	"OMIM:616817"	"microcephaly, short stature, and impaired glucose metabolism 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"26159176, 26307080, 27640355"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP1R15B0Microcep06"	"2023-11-30"
"GENCC_000106-HGNC_30595-OMIM_619383-HP_0000007-GENCC_100002"	"HGNC:30595"	"PPP1R21"	"MONDO:0859165"	"neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"	"OMIM:619383"	"Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30595"	"PPP1R21"	"OMIM:619383"	"Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-04 13:12:48"	""	""	"25613075, 28940097, 29808498, 30520571"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP1R210PPP1R21rel"	"2023-11-30"
"GENCC_000106-HGNC_9299-OMIM_618354-HP_0000006-GENCC_100002"	"HGNC:9299"	"PPP2CA"	"MONDO:0032697"	"Houge-Janssens syndrome 3"	"OMIM:618354"	"Houge-Janssens syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9299"	"PPP2CA"	"OMIM:618354"	"neurodevelopmental disorder and language delay with or without structural brain abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-15 15:44:24"	""	""	"28333917, 29051493, 30595372, 36531959"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP2CA0ID"	"2023-11-30"
"GENCC_000106-HGNC_9302-OMIM_616362-HP_0000006-GENCC_100002"	"HGNC:9302"	"PPP2R1A"	"MONDO:0014605"	"Houge-Janssens syndrome 2"	"OMIM:616362"	"Houge-Janssens syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9302"	"PPP2R1A"	"OMIM:616362"	"microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-01 00:10:57"	""	""	"26168268, 28940097, 31531803"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP2R1A0ID"	"2023-11-30"
"GENCC_000106-HGNC_9305-OMIM_604326-HP_0000006-GENCC_100002"	"HGNC:9305"	"PPP2R2B"	"MONDO:0011439"	"spinocerebellar ataxia type 12"	"OMIM:604326"	"Spinocerebellar ataxia 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9305"	"PPP2R2B"	"OMIM:604326"	"Spinocerebellar ataxia 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:33"	""	""	"10581021, 11198281, 16138911, 20533062"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP2R2B0SCA"	"2023-11-30"
"GENCC_000106-HGNC_14202-OMIM_619492-HP_0000005-GENCC_100004"	"HGNC:14202"	"JPH2"	"MONDO:0030366"	"cardiomyopathy, dilated, 2E"	"OMIM:619492"	"Cardiomyopathy, dilated, 2E"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14202"	"JPH2"	"OMIM:619492"	"Cardiomyopathy, dilated, 2E"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-21 12:12:49"	""	""	"27471098, 29540472, 30384889, 30847666, 31227780, 32870709, 32879264"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JPH20DCM"	"2023-11-30"
"GENCC_000106-HGNC_17485-OMIM_618419-HP_0000007-GENCC_100002"	"HGNC:17485"	"PPP2R3C"	"MONDO:0032738"	"gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy"	"OMIM:618419"	"Myoectodermal gonadal dysgenesis syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17485"	"PPP2R3C"	"OMIM:618419"	"gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-25 13:50:08"	""	""	"29477862, 30893644"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP2R3C0PPP2R3Crel"	"2023-11-30"
"GENCC_000106-HGNC_9314-OMIM_617711-HP_0000006-GENCC_100002"	"HGNC:9314"	"PPP3CA"	"MONDO:0020630"	"developmental and epileptic encephalopathy 91"	"OMIM:617711"	"Developmental and epileptic encephalopathy 91"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9314"	"PPP3CA"	"OMIM:617711"	"epileptic encephalopathy, infantile or early childhood, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 22:04:50"	""	""	"25260786, 28942967, 29432562, 30455226, 30951195, 35753512"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP3CA0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_9314-OMIM_618265-HP_0000006-GENCC_100002"	"HGNC:9314"	"PPP3CA"	"MONDO:0032642"	"arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"	"OMIM:618265"	"Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9314"	"PPP3CA"	"OMIM:618265"	"arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-14 15:32:56"	""	""	"28942967, 29432562"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPP3CA0PPP3CArel"	"2023-11-30"
"GENCC_000106-HGNC_9325-OMIM_256730-HP_0000007-GENCC_100002"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"OMIM:256730"	"Ceroid lipofuscinosis, neuronal, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9325"	"PPT1"	"OMIM:256730"	"neuronal ceroid lipofuscinosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-01 19:24:02"	""	""	"10679943, 21990111"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPT10CLN"	"2023-11-30"
"GENCC_000106-HGNC_28913-OMIM_619523-HP_0000005-GENCC_100004"	"HGNC:28913"	"HSCB"	"MONDO:0030436"	"anemia, sideroblastic, 5"	"OMIM:619523"	"?Anemia, sideroblastic, 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28913"	"HSCB"	"OMIM:619523"	"?Anemia, sideroblastic, 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-20 09:40:07"	""	""	"32634119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HSCB0HSCBrel"	"2023-11-30"
"GENCC_000106-HGNC_14000-OMIM_615373-HP_0000006-GENCC_100004"	"HGNC:14000"	"PRDM16"	"MONDO:0014152"	"left ventricular noncompaction 8"	"OMIM:615373"	"Cardiomyopathy, dilated, 1LL"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14000"	"PRDM16"	"OMIM:615373"	"left ventricular noncompaction 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-01-28 12:50:03"	""	""	"23768516, 29447731, 31965688"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDM160LVNC"	"2023-11-30"
"GENCC_000106-HGNC_9349-OMIM_614170-HP_0000007-GENCC_100002"	"HGNC:9349"	"PRDM5"	"MONDO:0013605"	"brittle cornea syndrome 2"	"OMIM:614170"	"Brittle cornea syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9349"	"PRDM5"	"OMIM:614170"	"brittle cornea syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"21664999, 23642083, 26221552, 26395458"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDM50BrittleCornea"	"2023-11-30"
"GENCC_000106-HGNC_9350-OMIM_617039-HP_0000006-GENCC_100004"	"HGNC:9350"	"PRDM6"	"MONDO:0024266"	"patent ductus arteriosus 3"	"OMIM:617039"	"Patent ductus arteriosus 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9350"	"PRDM6"	"OMIM:617039"	"Patent ductus arteriosus 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:28"	""	""	"27181681"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDM60PatentDu02"	"2023-11-30"
"GENCC_000106-HGNC_13993-OMIM_616640-HP_0000007-GENCC_100002"	"HGNC:13993"	"PRDM8"	"MONDO:0014717"	"early-onset Lafora body disease"	"OMIM:616640"	"?Epilepsy, progressive myoclonic, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13993"	"PRDM8"	"OMIM:616640"	"?Epilepsy, progressive myoclonic, 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"22284184, 22961547, 26283595, 35034233"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDM80EPM1"	"2023-11-30"
"GENCC_000106-HGNC_9352-OMIM_277400-HP_0000007-GENCC_100002"	"HGNC:9352"	"PRDX1"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"OMIM:277400"	"Methylmalonic aciduria and homocystinuria, cblC type, digenic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9352"	"PRDX1"	"OMIM:277400"	"methylmalonic aciduria and homocystinuria type cblC"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:23"	""	""	"29302025"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDX10epi-CblC"	"2023-11-30"
"GENCC_000106-HGNC_4061-OMIM_619525-HP_0000006-GENCC_100002"	"HGNC:4061"	"SLC37A4"	"MONDO:0030437"	"congenital disorder of glycosylation, type IIw"	"OMIM:619525"	"Congenital disorder of glycosylation, type IIw"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:4061"	"SLC37A4"	"OMIM:619525"	"Congenital disorder of glycosylation, type IIw"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-12 13:53:42"	""	""	"32884905, 33728255, 33964207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC37A40CDG"	"2023-11-30"
"GENCC_000106-HGNC_7102-OMIM_619527-HP_0000007-GENCC_100002"	"HGNC:7102"	"MINPP1"	"MONDO:0030438"	"pontocerebellar hypoplasia, type 16"	"OMIM:619527"	"Pontocerebellar hypoplasia, type 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7102"	"MINPP1"	"OMIM:619527"	"Pontocerebellar hypoplasia, type 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-13 00:27:06"	""	""	"33257696"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MINPP10PCH"	"2023-11-30"
"GENCC_000106-HGNC_30228-OMIM_616224-HP_0000007-GENCC_100002"	"HGNC:30228"	"PREPL"	"MONDO:0044299"	"myasthenic syndrome, congenital, 22"	"OMIM:616224"	"Myasthenic syndrome, congenital, 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30228"	"PREPL"	"OMIM:616224"	"myasthenic syndrome, congenital, 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-02-07 09:13:08"	""	""	"24610330, 28726805, 29913539"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PREPL0CMS"	"2023-11-30"
"GENCC_000106-HGNC_29217-OMIM_619539-HP_0000006-GENCC_100002"	"HGNC:29217"	"PRR12"	"MONDO:0859193"	"neuroocular syndrome"	"OMIM:619539"	"Neuroocular syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29217"	"PRR12"	"OMIM:619539"	"Neuroocular syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-11 18:52:25"	""	""	"26163108, 29556724, 33314030"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRR120PRR12rel"	"2023-11-30"
"GENCC_000106-HGNC_9360-OMIM_605027-HP_0000005-GENCC_100004"	"HGNC:9360"	"PRF1"	"MONDO:0011508"	"lymphoma, non-Hodgkin, familial"	"OMIM:605027"	"Lymphoma, non-Hodgkin"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9360"	"PRF1"	"OMIM:605027"	"{Lymphoma, follicular, somatic}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-05-18 09:12:51"	""	""	"16791263, 21936944, 23734337, 24309606, 24390453, 25215106, 26184787, 29113160"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRF10Lymphoma"	"2023-11-30"
"GENCC_000106-HGNC_555-OMIM_619548-HP_0000007-GENCC_100002"	"HGNC:555"	"AP1G1"	"MONDO:0859196"	"Usmani-Riazuddin syndrome, autosomal recessive"	"OMIM:619548"	"Usmani-Riazuddin syndrome, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:555"	"AP1G1"	"OMIM:619548"	"Usmani-Riazuddin syndrome, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 07:40:39"	""	""	"34102099"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AP1G10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_30227-OMIM_619549-HP_0000007-GENCC_100004"	"HGNC:30227"	"SPPL2A"	"MONDO:0030448"	"immunodeficiency 86"	"OMIM:619549"	"Immunodeficiency 86, mycobacteriosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30227"	"SPPL2A"	"OMIM:619549"	"Immunodeficiency 86, mycobacteriosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-20 07:40:03"	""	""	"30127434"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPPL2A0MSMD"	"2023-11-30"
"GENCC_000106-HGNC_27344-OMIM_619562-HP_0000007-GENCC_100002"	"HGNC:27344"	"TMEM218"	"MONDO:0030454"	"Joubert syndrome 39"	"OMIM:619562"	"Joubert syndrome 39"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27344"	"TMEM218"	"OMIM:619562"	"Joubert syndrome 39"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 12:48:27"	""	""	"25161209, 33791682"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM2180Joubert"	"2023-11-30"
"GENCC_000106-HGNC_6189-OMIM_619566-HP_0000007-GENCC_100002"	"HGNC:6189"	"JAG2"	"MONDO:0030456"	"muscular dystrophy, limb-girdle, autosomal recessive 27"	"OMIM:619566"	"Muscular dystrophy, limb-girdle, autosomal recessive 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6189"	"JAG2"	"OMIM:619566"	"Muscular dystrophy, limb-girdle, autosomal recessive 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 09:19:00"	""	""	"33861953"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"JAG20MuscDys"	"2023-11-30"
"GENCC_000106-HGNC_9380-OMIM_619142-HP_0000006-GENCC_100002"	"HGNC:9380"	"PRKACA"	"MONDO:0030876"	"cardioacrofacial dysplasia 1"	"OMIM:619142"	"Cardioacrofacial dysplasia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9380"	"PRKACA"	"OMIM:619142"	"cardioacrofacial dysplasia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-05 11:03:45"	""	""	"33058759"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKACA0PRKACArel"	"2023-11-30"
"GENCC_000106-HGNC_9381-OMIM_619143-HP_0000006-GENCC_100002"	"HGNC:9381"	"PRKACB"	"MONDO:0030877"	"cardioacrofacial dysplasia 2"	"OMIM:619143"	"Cardioacrofacial dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9381"	"PRKACB"	"OMIM:619143"	"cardioacrofacial dysplasia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-05 11:03:27"	""	""	"33058759"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKACB0Congen0Malform"	"2023-11-30"
"GENCC_000106-HGNC_29259-OMIM_619575-HP_0000006-GENCC_100002"	"HGNC:29259"	"TAOK1"	"MONDO:0859199"	"developmental delay with or without intellectual impairment or behavioral abnormalities"	"OMIM:619575"	"Developmental delay with or without intellectual impairment or behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29259"	"TAOK1"	"OMIM:619575"	"Developmental delay with or without intellectual impairment or behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 07:39:22"	""	""	"27247625, 31230721, 33565190"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAOK10TAOK1rel"	"2023-11-30"
"GENCC_000106-HGNC_9386-OMIM_194200-HP_0000006-GENCC_100002"	"HGNC:9386"	"PRKAG2"	"MONDO:0008685"	"Wolff-Parkinson-White syndrome"	"OMIM:194200"	"Wolff-Parkinson-White syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9386"	"PRKAG2"	"OMIM:194200"	"Wolff-Parkinson-White syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-14 07:35:53"	""	""	"11407343, 11827995, 20005292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKAG20ArrhythCardiomy"	"2023-11-30"
"GENCC_000106-HGNC_9386-OMIM_600858-HP_0000006-GENCC_100002"	"HGNC:9386"	"PRKAG2"	"MONDO:0010946"	"hypertrophic cardiomyopathy 6"	"OMIM:600858"	"Cardiomyopathy, hypertrophic 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9386"	"PRKAG2"	"OMIM:600858"	"hypertrophic cardiomyopathy 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 15:22:36"	""	""	"11371514, 11827995, 20005292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKAG20HCM"	"2023-11-30"
"GENCC_000106-HGNC_9388-OMIM_101800-HP_0000006-GENCC_100002"	"HGNC:9388"	"PRKAR1A"	"MONDO:0007044"	"Acrodysostosis 1 with or without hormone resistance"	"OMIM:101800"	"Acrodysostosis 1, with or without hormone resistance"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9388"	"PRKAR1A"	"OMIM:101800"	"Acrodysostosis 1 with or without hormone resistance"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"21651393, 22464250, 22464252, 30006632"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKAR1A0Acrodysostosis"	"2023-11-30"
"GENCC_000106-HGNC_9388-OMIM_160980-HP_0000006-GENCC_100002"	"HGNC:9388"	"PRKAR1A"	"MONDO:0008057"	"Carney complex, type 1"	"OMIM:160980"	"Carney complex, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9388"	"PRKAR1A"	"OMIM:160980"	"Carney complex, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-15 17:58:16"	""	""	"11115848, 18241045, 19293268, 22112814"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKAR1A0Carney"	"2023-11-30"
"GENCC_000106-HGNC_9390-OMIM_619680-HP_0000006-GENCC_100002"	"HGNC:9390"	"PRKAR1B"	"MONDO:0859214"	"Marbach-Schaaf neurodevelopmental syndrome"	"OMIM:619680"	"Marbach-Schaaf neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9390"	"PRKAR1B"	"OMIM:619680"	"Marbach-Schaaf neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-05 10:11:25"	""	""	"33833410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKAR1B0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_9399-OMIM_615559-HP_0000007-GENCC_100002"	"HGNC:9399"	"PRKCD"	"MONDO:8000024"	"autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD"	"OMIM:615559"	"Autoimmune lymphoproliferative syndrome, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9399"	"PRKCD"	"OMIM:615559"	"Autoimmune lymphoproliferative syndrome, type III"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 13:34:25"	""	""	"11976687, 23319571, 23430113, 23666743, 24240292, 26233929"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKCD0PRKCdeltadef"	"2023-11-30"
"GENCC_000106-HGNC_9407-OMIM_617364-HP_0000006-GENCC_100002"	"HGNC:9407"	"PRKD1"	"MONDO:0044303"	"congenital heart defects and ectodermal dysplasia"	"OMIM:617364"	"Congenital heart defects and ectodermal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9407"	"PRKD1"	"OMIM:617364"	"congenital heart defects and ectodermal dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-31 14:32:07"	""	""	"19303466, 21441262, 22968132, 23401328, 27479907, 29396177, 29920362, 31042289, 31848144, 32817298"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKD10PRKD1rel"	"2023-11-30"
"GENCC_000106-HGNC_9416-OMIM_619636-HP_0000007-GENCC_100002"	"HGNC:9416"	"PRKG2"	"MONDO:0030553"	"acromesomelic dysplasia 4"	"OMIM:619636"	"Acromesomelic dysplasia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9416"	"PRKG2"	"OMIM:619636"	"acromesomelic dysplasia 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-10 22:05:44"	""	""	"19149413, 33106379, 34782440"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKG20AcromesomDys"	"2023-11-30"
"GENCC_000106-HGNC_9438-OMIM_612067-HP_0000007-GENCC_100002"	"HGNC:9438"	"PRKRA"	"MONDO:0012789"	"dystonia 16"	"OMIM:612067"	"Dystonia 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9438"	"PRKRA"	"OMIM:612067"	"dystonia 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:12:29"	""	""	"18243799, 24142417, 25142429, 25737287, 26231208, 26990861, 8243799"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRKRA0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_9446-OMIM_615555-HP_0000005-GENCC_100004"	"HGNC:9446"	"PRLR"	"MONDO:0014250"	"familial hyperprolactinemia"	"OMIM:615555"	"Hyperprolactinemia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9446"	"PRLR"	"OMIM:615555"	"Hyperprolactinemia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:18"	""	""	"24195502, 30575453"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRLR0Hyperpro"	"2023-11-30"
"GENCC_000106-HGNC_24662-OMIM_619576-HP_0000007-GENCC_100002"	"HGNC:24662"	"EXOSC5"	"MONDO:0859200"	"cerebellar ataxia, brain abnormalities, and cardiac conduction defects"	"OMIM:619576"	"Cerebellar ataxia, brain abnormalities, and cardiac conduction defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24662"	"EXOSC5"	"OMIM:619576"	"Cerebellar ataxia, brain abnormalities, and cardiac conduction defects"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-20 11:03:05"	""	""	"29302074, 30950035, 32504085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EXOSC50ID"	"2023-11-30"
"GENCC_000106-HGNC_9449-OMIM_123400-HP_0000006-GENCC_100002"	"HGNC:9449"	"PRNP"	"MONDO:0007403"	"inherited Creutzfeldt-Jakob disease"	"OMIM:123400"	"Creutzfeldt-Jakob disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9449"	"PRNP"	"OMIM:123400"	"inherited Creutzfeldt-Jakob disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 19:17:49"	""	""	"12420099, 14522861, 20583301, 24274755, 26633779, 8698234"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRNP0GeneticPrion"	"2023-11-30"
"GENCC_000106-HGNC_9451-OMIM_176860-HP_0000006-GENCC_100002"	"HGNC:9451"	"PROC"	"MONDO:0008316"	"thrombophilia due to protein C deficiency, autosomal dominant"	"OMIM:176860"	"Thrombophilia 3 due to protein C deficiency, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9451"	"PROC"	"OMIM:176860"	"thrombophilia due to protein C deficiency, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-28 06:17:23"	""	""	"17152060, 9065991, 9746774"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROC0PROCDef"	"2023-11-30"
"GENCC_000106-HGNC_9451-OMIM_612304-HP_0000007-GENCC_100002"	"HGNC:9451"	"PROC"	"MONDO:0012860"	"thrombophilia due to protein C deficiency, autosomal recessive"	"OMIM:612304"	"Thrombophilia 3 due to protein C deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9451"	"PROC"	"OMIM:612304"	"thrombophilia due to protein C deficiency, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-03 15:54:57"	""	""	"10942114, 17152060, 19139080, 9746774"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROC0PurpuraFul"	"2023-11-30"
"GENCC_000106-HGNC_18455-OMIM_610628-HP_0000006-GENCC_100002"	"HGNC:18455"	"PROK2"	"MONDO:0012528"	"hypogonadotropic hypogonadism 4 with or without anosmia"	"OMIM:610628"	"Hypogonadotropic hypogonadism 4 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18455"	"PROK2"	"OMIM:610628"	"Hypogonadotropic hypogonadism 4 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:56:25"	""	""	"17054399, 18559922, 24031091"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROK20Kallmann"	"2023-11-30"
"GENCC_000106-HGNC_18455-OMIM_610628-HP_0000007-GENCC_100002"	"HGNC:18455"	"PROK2"	"MONDO:0012528"	"hypogonadotropic hypogonadism 4 with or without anosmia"	"OMIM:610628"	"Hypogonadotropic hypogonadism 4 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18455"	"PROK2"	"OMIM:610628"	"Hypogonadotropic hypogonadism 4 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:56:25"	""	""	"121378, 17054399, 17959774, 18285834, 18559922, 18985070, 282872"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROK2kall"	"2023-11-30"
"GENCC_000106-HGNC_9454-OMIM_612657-HP_0000007-GENCC_100002"	"HGNC:9454"	"PROM1"	"MONDO:0012983"	"cone-rod dystrophy 12"	"OMIM:612657"	"Cone-rod dystrophy 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9454"	"PROM1"	"OMIM:612657"	"Cone-rod dystrophy 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 12:42:03"	""	""	"18654668, 19718270, 22025579, 23591405, 24474277, 26766544"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROM10ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_9454-OMIM_608051-HP_0000006-GENCC_100002"	"HGNC:9454"	"PROM1"	"MONDO:0011957"	"retinal macular dystrophy type 2"	"OMIM:608051"	"Macular dystrophy, retinal, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9454"	"PROM1"	"OMIM:608051"	"Macular dystrophy, retinal, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 13:00:58"	""	""	"18654668, 20393116, 25474345, 29416601"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROM10MacularDys"	"2023-11-30"
"GENCC_000106-HGNC_9454-OMIM_612095-HP_0000007-GENCC_100002"	"HGNC:9454"	"PROM1"	"MONDO:0012796"	"retinitis pigmentosa 41"	"OMIM:612095"	"Retinitis pigmentosa 41"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9454"	"PROM1"	"OMIM:612095"	"retinitis pigmentosa 41"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-27 07:02:41"	""	""	"17605048, 23105016, 24154662, 24618324, 24763286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROM10RP"	"2023-11-30"
"GENCC_000106-HGNC_9456-OMIM_614514-HP_0000007-GENCC_100002"	"HGNC:9456"	"PROS1"	"MONDO:0013791"	"thrombophilia due to protein S deficiency, autosomal recessive"	"OMIM:614514"	"Thrombophilia 5 due to protein S deficiency, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9456"	"PROS1"	"OMIM:614514"	"thrombophilia due to protein S deficiency, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-18 12:48:25"	""	""	"12529095, 2149204, 8972044, 9241758"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROS10PurpuraFul"	"2023-11-30"
"GENCC_000106-HGNC_9457-OMIM_617290-HP_0000007-GENCC_100002"	"HGNC:9457"	"PLPBP"	"MONDO:0015005"	"epilepsy, early-onset, vitamin B6-dependent"	"OMIM:617290"	"Epilepsy, early-onset, 1, vitamin B6-dependent"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9457"	"PLPBP"	"OMIM:617290"	"Epilepsy, early-onset, 1, vitamin B6-dependent"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"27912044, 28391250, 30525118"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PROSC0PDE"	"2023-11-30"
"GENCC_000106-HGNC_21424-OMIM_619585-HP_0000005-GENCC_100004"	"HGNC:21424"	"IFT74"	"MONDO:0030463"	"spermatogenic failure 58"	"OMIM:619585"	"Spermatogenic failure 58"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21424"	"IFT74"	"OMIM:619585"	"Spermatogenic failure 58"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-18 09:19:38"	""	""	"29068549, 33770252, 33875766"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFT740IFT74rel"	"2023-11-30"
"GENCC_000106-HGNC_15860-OMIM_613983-HP_0000006-GENCC_100002"	"HGNC:15860"	"PRPF6"	"MONDO:0013516"	"retinitis pigmentosa 60"	"OMIM:613983"	"Retinitis pigmentosa 60"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15860"	"PRPF6"	"OMIM:613983"	"retinitis pigmentosa 60"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:33"	""	""	"21549338, 22235333, 25324289, 25356976, 28512305, 29847639"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPF60RP"	"2023-11-30"
"GENCC_000106-HGNC_17340-OMIM_600059-HP_0000006-GENCC_100002"	"HGNC:17340"	"PRPF8"	"MONDO:0010806"	"retinitis pigmentosa 13"	"OMIM:600059"	"Retinitis pigmentosa 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17340"	"PRPF8"	"OMIM:600059"	"retinitis pigmentosa 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:23"	""	""	"12714658, 23484092, 24154662, 25097241, 26968627, 27208204, 31054281, 33946315"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPF80RP"	"2023-11-30"
"GENCC_000106-HGNC_9942-OMIM_613105-HP_0000006-GENCC_100002"	"HGNC:9942"	"PRPH2"	"MONDO:0013137"	"choroidal dystrophy, central areolar 2"	"OMIM:613105"	"Choroidal dystrophy, central areolar 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9942"	"PRPH2"	"OMIM:613105"	"choroidal dystrophy, central areolar 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-12 21:19:10"	""	""	"12042139, 19243827, 25447119, 25675413, 28559085, 29555955, 8644804, 9279751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPH20ChoriodalDys"	"2023-11-30"
"GENCC_000106-HGNC_9942-OMIM_608133-HP_0000007-GENCC_100002"	"HGNC:9942"	"PRPH2"	"MONDO:0011974"	"retinitis pigmentosa 7"	"OMIM:608133"	"Retinitis pigmentosa 7, digenic form"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9942"	"PRPH2"	"OMIM:608133"	"retinitis pigmentosa 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-14 15:51:21"	""	""	"23105016, 23847139, 25412400, 26061163, 29844330, 8530028"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPH20Leber"	"2023-11-30"
"GENCC_000106-HGNC_9942-OMIM_608161-HP_0000006-GENCC_100002"	"HGNC:9942"	"PRPH2"	"MONDO:0024561"	"vitelliform macular dystrophy 3"	"OMIM:608161"	"Macular dystrophy, vitelliform, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9942"	"PRPH2"	"OMIM:608161"	"Macular dystrophy, vitelliform, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 13:17:41"	""	""	"12042139, 19243827, 25447119, 25675413, 27365499, 29555955, 8485576, 9279751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPH20MacularDys"	"2023-11-30"
"GENCC_000106-HGNC_9942-OMIM_608133-HP_0000006-GENCC_100002"	"HGNC:9942"	"PRPH2"	"MONDO:0011974"	"retinitis pigmentosa 7"	"OMIM:608133"	"Retinitis pigmentosa 7, digenic form"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9942"	"PRPH2"	"OMIM:608133"	"retinitis pigmentosa 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-14 15:51:21"	""	""	"12925772, 16916875, 1749427, 25675413, 29555955, 7880786, 8111389, 8485576, 8675410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPH20RP"	"2023-11-30"
"GENCC_000106-HGNC_9942-OMIM_136880-HP_0000006-GENCC_100002"	"HGNC:9942"	"PRPH2"	"MONDO:0007639"	"fundus albipunctatus"	"OMIM:136880"	"Fundus albipunctatus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9942"	"PRPH2"	"OMIM:136880"	"fundus albipunctatus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:40:08"	""	""	"8485575"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPH20RetPunctAlb"	"2023-11-30"
"GENCC_000106-HGNC_9462-OMIM_301835-HP_0001417-GENCC_100002"	"HGNC:9462"	"PRPS1"	"MONDO:0010533"	"Arts syndrome"	"OMIM:301835"	"Arts syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9462"	"PRPS1"	"OMIM:301835"	"Arts syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"17701896, 17701900, 20021999, 24285972, 24528855, 24961627, 25182139, 25491489, 25785835, 27256512, 27886419, 28967191, 31434166, 32781272, 8498830"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPS10PRPS1disease"	"2023-11-30"
"GENCC_000106-HGNC_9462-OMIM_300661-HP_0001417-GENCC_100002"	"HGNC:9462"	"PRPS1"	"MONDO:0010395"	"phosphoribosylpyrophosphate synthetase superactivity"	"OMIM:300661"	"Gout, PRPS-related"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:9462"	"PRPS1"	"OMIM:300661"	"phosphoribosylpyrophosphate synthetase superactivity"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"12847698, 1664177, 22246954, 28742244, 30423175, 31773495, 7593598"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRPS10PRSsuperact"	"2023-11-30"
"GENCC_000106-HGNC_6442-OMIM_619588-HP_0000006-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0030525"	"epidermolysis bullosa simplex 2B, generalized intermediate"	"OMIM:619588"	"Epidermolysis bullosa simplex 2B, generalized intermediate"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6442"	"KRT5"	"OMIM:619588"	"Epidermolysis bullosa simplex 2B, generalized intermediate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-20 10:36:35"	""	""	"10234505, 10383750, 11407989, 11408584, 12655565, 19267394, 19616543, 20060687, 26432462, 26743602, 28576738, 29334134, 29932457, 52517502, 52520040, 8799157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT50EBS"	"2023-11-30"
"GENCC_000106-HGNC_30500-OMIM_605751-HP_0000006-GENCC_100002"	"HGNC:30500"	"PRRT2"	"MONDO:0011593"	"seizures, benign familial infantile, 2"	"OMIM:605751"	"Seizures, benign familial infantile, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30500"	"PRRT2"	"OMIM:605751"	"seizures, benign familial infantile, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 05:58:08"	""	""	"22623405, 22744660, 25060993, 25582463"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRRT20BFIS"	"2023-11-30"
"GENCC_000106-HGNC_30500-OMIM_128200-HP_0000006-GENCC_100002"	"HGNC:30500"	"PRRT2"	"MONDO:0100352"	"episodic kinesigenic dyskinesia 1"	"OMIM:128200"	"Episodic kinesigenic dyskinesia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30500"	"PRRT2"	"OMIM:128200"	"episodic kinesigenic dyskinesia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-16 08:22:10"	""	""	"20301633, 22243967, 22623405, 22744660"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRRT20Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_9142-OMIM_202650-HP_0000005-GENCC_100004"	"HGNC:9142"	"PRRX1"	"MONDO:0008740"	"agnathia-otocephaly complex"	"OMIM:202650"	"Agnathia-otocephaly complex"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9142"	"PRRX1"	"OMIM:202650"	"Agnathia-otocephaly complex"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-06 10:40:03"	""	""	"21294718, 22211708, 22674740, 23444262, 32643087, 7758948, 9729491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRRX10Agnathia"	"2023-11-30"
"GENCC_000106-HGNC_9477-OMIM_249500-HP_0000005-GENCC_100004"	"HGNC:9477"	"PRSS12"	"MONDO:0009580"	"intellectual disability, autosomal recessive 1"	"OMIM:249500"	"Intellectual developmental disorder, autosomal recessive 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9477"	"PRSS12"	"OMIM:249500"	"intellectual disability, autosomal recessive 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"119281419, 12459588, 22090715, 24715413, 31254375, 31980526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRSS120ID"	"2023-11-30"
"GENCC_000106-HGNC_13797-OMIM_614895-HP_0000007-GENCC_100002"	"HGNC:13797"	"PRX"	"MONDO:0013959"	"Charcot-Marie-Tooth disease type 4F"	"OMIM:614895"	"Charcot-Marie-Tooth disease, type 4F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13797"	"PRX"	"OMIM:614895"	"Charcot-Marie-Tooth disease type 4F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-09 19:29:16"	""	""	"10839370, 10848494, 11133365, 614895"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRX0CMT"	"2023-11-30"
"GENCC_000106-HGNC_9498-OMIM_611721-HP_0000007-GENCC_100002"	"HGNC:9498"	"PSAP"	"MONDO:0012719"	"combined PSAP deficiency"	"OMIM:611721"	"Combined SAP deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9498"	"PSAP"	"OMIM:611721"	"combined PSAP deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:51"	""	""	"11309366, 19267410"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSAP0CombSAPdef"	"2023-11-30"
"GENCC_000106-HGNC_9498-OMIM_610539-HP_0000007-GENCC_100002"	"HGNC:9498"	"PSAP"	"MONDO:0012517"	"Gaucher disease due to saposin C deficiency"	"OMIM:610539"	"Gaucher disease, atypical"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9498"	"PSAP"	"OMIM:610539"	"Gaucher disease due to saposin C deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"15856305, 17919309, 20015957, 20484222, 24925315"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSAP0Gaucher"	"2023-11-30"
"GENCC_000106-HGNC_9498-OMIM_611722-HP_0000007-GENCC_100004"	"HGNC:9498"	"PSAP"	"MONDO:0012720"	"Krabbe disease due to saposin A deficiency"	"OMIM:611722"	"Krabbe disease, atypical"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9498"	"PSAP"	"OMIM:611722"	"Krabbe disease due to saposin A deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-14 12:25:54"	""	""	"15773042, 15773043, 29995202, 31439510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSAP0Krabbe"	"2023-11-30"
"GENCC_000106-HGNC_9498-OMIM_249900-HP_0000007-GENCC_100002"	"HGNC:9498"	"PSAP"	"MONDO:0009590"	"metachromatic leukodystrophy due to saposin B deficiency"	"OMIM:249900"	"Metachromatic leukodystrophy due to SAP-b deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9498"	"PSAP"	"OMIM:249900"	"metachromatic leukodystrophy due to saposin B deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"11309366, 15856305, 17616409, 17919309, 19267410, 20015957, 20484222, 2302219, 2320574, 24478108, 24925315, 30632081, 8554069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSAP0MetachromLeuk"	"2023-11-30"
"GENCC_000106-HGNC_16974-OMIM_619595-HP_0000006-GENCC_100002"	"HGNC:16974"	"SRCAP"	"MONDO:0859202"	"developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities"	"OMIM:619595"	"Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16974"	"SRCAP"	"OMIM:619595"	"Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-22 20:23:54"	""	""	"33909990"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRCAP0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_6442-OMIM_619599-HP_0000007-GENCC_100002"	"HGNC:6442"	"KRT5"	"MONDO:0030535"	"epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive"	"OMIM:619599"	"Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6442"	"KRT5"	"OMIM:619599"	"Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 09:43:01"	""	""	"11408584, 11973334, 19267394, 31302245, 31312705, 32884918, 7534039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KRT50EBS02"	"2023-11-30"
"GENCC_000106-HGNC_800-OMIM_619602-HP_0000007-GENCC_100002"	"HGNC:800"	"ATP1A2"	"MONDO:0859204"	"fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"	"OMIM:619602"	"Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:800"	"ATP1A2"	"OMIM:619602"	"Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 03:12:02"	""	""	"12805306, 18626973, 30690204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP1A20FADS"	"2023-11-30"
"GENCC_000106-HGNC_9508-OMIM_607822-HP_0000006-GENCC_100002"	"HGNC:9508"	"PSEN1"	"MONDO:0011913"	"Alzheimer disease 3"	"OMIM:607822"	"{?Alzheimer disease, protection against, due to APOE3-Christchurch}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9508"	"PSEN1"	"OMIM:607822"	"Alzheimer disease 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-05 19:43:13"	""	""	"20929727, 25471389, 35430993"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSEN10EarlyOnsetAlz"	"2023-11-30"
"GENCC_000106-HGNC_9508-OMIM_600274-HP_0000006-GENCC_100004"	"HGNC:9508"	"PSEN1"	"MONDO:0010857"	"semantic dementia"	"OMIM:600274"	"Frontotemporal dementia 1, with or without parkinsonism"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9508"	"PSEN1"	"OMIM:600274"	"semantic dementia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-22 15:30:25"	""	""	"17431506"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSEN10FTD"	"2023-11-30"
"GENCC_000106-HGNC_9509-OMIM_606889-HP_0000006-GENCC_100002"	"HGNC:9509"	"PSEN2"	"MONDO:0011743"	"Alzheimer disease 4"	"OMIM:606889"	"Alzheimer disease-4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9509"	"PSEN2"	"OMIM:606889"	"Alzheimer disease 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-14 16:40:36"	""	""	"18834536, 20375137, 23927914, 24704512, 27930341"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSEN20EarlyOnsetAlz"	"2023-11-30"
"GENCC_000106-HGNC_30100-OMIM_613736-HP_0000006-GENCC_100002"	"HGNC:30100"	"PSENEN"	"MONDO:0013397"	"acne inversa, familial, 2"	"OMIM:613736"	"Acne inversa, familial, 2, with or without Dowling-Degos disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30100"	"PSENEN"	"OMIM:613736"	"acne inversa, familial, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-07 16:56:13"	""	""	"27900998, 28287404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSENEN0AcneInversa"	"2023-11-30"
"GENCC_000106-HGNC_13299-OMIM_619613-HP_0000005-GENCC_100004"	"HGNC:13299"	"LGR4"	"MONDO:0859205"	"delayed puberty, self-limited"	"OMIM:619613"	"Delayed puberty, self-limited"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13299"	"LGR4"	"OMIM:619613"	"Delayed puberty, self-limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-12 11:25:38"	""	""	"24519938, 29089047, 31785789, 36538378"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LGR40LGR4rel"	"2023-11-30"
"GENCC_000106-HGNC_28762-OMIM_619615-HP_0000007-GENCC_100002"	"HGNC:28762"	"AFG2B"	"MONDO:0030480"	"hearing loss, autosomal recessive 119"	"OMIM:619615"	"Deafness, autosomal recessive 119"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28762"	"AFG2B"	"OMIM:619615"	"Deafness, autosomal recessive 119"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-27 13:16:09"	""	""	"34626583"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPATA5L10SPATA5L1rel"	"2023-11-30"
"GENCC_000106-HGNC_9541-OMIM_617591-HP_0000007-GENCC_100004"	"HGNC:9541"	"PSMB4"	"MONDO:0054699"	"proteasome-associated autoinflammatory syndrome 3"	"OMIM:617591"	"?Proteasome-associated autoinflammatory syndrome 3 and digenic forms"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9541"	"PSMB4"	"OMIM:617591"	"proteasome-associated autoinflammatory syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:10"	""	""	"26524591, 28714951"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSMB40PSMB4rel"	"2023-11-30"
"GENCC_000106-HGNC_9545-OMIM_256040-HP_0000007-GENCC_100002"	"HGNC:9545"	"PSMB8"	"MONDO:0054698"	"proteasome-associated autoinflammatory syndrome 1"	"OMIM:256040"	"Proteasome-associated autoinflammatory syndrome 1 and digenic forms"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9545"	"PSMB8"	"OMIM:256040"	"proteasome-associated autoinflammatory syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"21129723, 21953331, 26524591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSMB80PRASS"	"2023-11-30"
"GENCC_000106-HGNC_11599-OMIM_619630-HP_0000007-GENCC_100004"	"HGNC:11599"	"TBX21"	"MONDO:0030483"	"immunodeficiency 88"	"OMIM:619630"	"?Immunodeficiency 88"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11599"	"TBX21"	"OMIM:619630"	"?Immunodeficiency 88"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-27 13:47:37"	""	""	"33296702"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX210MSMD"	"2023-11-30"
"GENCC_000106-HGNC_16422-OMIM_619632-HP_0000005-GENCC_100004"	"HGNC:16422"	"CARD10"	"MONDO:0030484"	"immunodeficiency 89 and autoimmunity"	"OMIM:619632"	"?Immunodeficiency 89 and autoimmunity"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16422"	"CARD10"	"OMIM:619632"	"?Immunodeficiency 89 and autoimmunity"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-18 23:59:26"	""	""	"32238915"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CARD100PIA"	"2023-11-30"
"GENCC_000106-HGNC_14347-OMIM_619641-HP_0000007-GENCC_100002"	"HGNC:14347"	"BCAS3"	"MONDO:0859208"	"Hengel-Maroofian-Schols syndrome"	"OMIM:619641"	"Hengel-Maroofian-Schols syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14347"	"BCAS3"	"OMIM:619641"	"Hengel-Maroofian-Schols syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-21 12:25:09"	""	""	"22052796, 29618843, 32163230, 34022130"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BCAS30BCAS3rel"	"2023-11-30"
"GENCC_000106-HGNC_24717-OMIM_619057-HP_0000007-GENCC_100002"	"HGNC:24717"	"PTCD3"	"MONDO:0033631"	"combined oxidative phosphorylation deficiency 51"	"OMIM:619057"	"Combined oxidative phosphorylation deficiency 51"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24717"	"PTCD3"	"OMIM:619057"	"?Combined oxidative phosphorylation deficiency 51"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-05 21:11:42"	""	""	"30607703, 35094435, 36450274"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTCD30Leighsyn"	"2023-11-30"
"GENCC_000106-HGNC_9585-OMIM_109400-HP_0000006-GENCC_100002"	"HGNC:9585"	"PTCH1"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"OMIM:109400"	"Basal cell nevus syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9585"	"PTCH1"	"OMIM:109400"	"nevoid basal cell carcinoma syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-28 17:46:59"	""	""	"1347096, 15042702, 16301862, 16419085, 20301330, 22952776, 23897749, 33066274, 8352281, 8658145, 8681379, 8906794, 9262482"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTCH10BasalNevus"	"2023-11-30"
"GENCC_000106-HGNC_9585-OMIM_610828-HP_0000006-GENCC_100004"	"HGNC:9585"	"PTCH1"	"MONDO:0012562"	"holoprosencephaly 7"	"OMIM:610828"	"Holoprosencephaly 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9585"	"PTCH1"	"OMIM:610828"	"holoprosencephaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-02-26 08:38:18"	""	""	"11430830, 11941477, 1194177, 17001668"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTCH10Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_23734-OMIM_615935-HP_0000007-GENCC_100002"	"HGNC:23734"	"PTF1A"	"MONDO:0014406"	"pancreatic agenesis 2"	"OMIM:615935"	"Pancreatic agenesis 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23734"	"PTF1A"	"OMIM:615935"	"pancreatic agenesis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-09 14:33:54"	""	""	"24212882, 24411943, 27284104, 28663161"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTF1A0EPI"	"2023-11-30"
"GENCC_000106-HGNC_23734-OMIM_609069-HP_0000007-GENCC_100002"	"HGNC:23734"	"PTF1A"	"MONDO:0012192"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"OMIM:609069"	"Pancreatic and cerebellar agenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23734"	"PTF1A"	"OMIM:609069"	"permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"15543146, 19650412, 21749365, 24212882, 27284104"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTF1A0Pancreat02"	"2023-11-30"
"GENCC_000106-HGNC_9606-OMIM_146200-HP_0000006-GENCC_100002"	"HGNC:9606"	"PTH"	"MONDO:0007796"	"hypoparathyroidism, familial isolated 1"	"OMIM:146200"	"Hypoparathyroidism, familial isolated 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9606"	"PTH"	"OMIM:146200"	"hypoparathyroidism, familial isolated 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:00:55"	""	""	"18056632, 18784115, 2212001, 23873991, 28938448, 31433868"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTH0Hypoparathy"	"2023-11-30"
"GENCC_000106-HGNC_9608-OMIM_215045-HP_0000007-GENCC_100002"	"HGNC:9608"	"PTH1R"	"MONDO:0008970"	"chondrodysplasia Blomstrand type"	"OMIM:215045"	"Chondrodysplasia, Blomstrand type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9608"	"PTH1R"	"OMIM:215045"	"chondrodysplasia Blomstrand type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-29 07:13:21"	""	""	"10523019, 17164305, 21220409, 8662561, 9649554, 9745456"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTH1R0BOCD"	"2023-11-30"
"GENCC_000106-HGNC_9608-OMIM_600002-HP_0000007-GENCC_100002"	"HGNC:9608"	"PTH1R"	"MONDO:0010803"	"Eiken syndrome"	"OMIM:600002"	"Eiken syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9608"	"PTH1R"	"OMIM:600002"	"Eiken syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:51"	""	""	"15525660, 29987841, 31297790"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTH1R0ES"	"2023-11-30"
"GENCC_000106-HGNC_9608-OMIM_156400-HP_0000006-GENCC_100002"	"HGNC:9608"	"PTH1R"	"MONDO:0007982"	"metaphyseal chondrodysplasia, Jansen type"	"OMIM:156400"	"Metaphyseal chondrodysplasia, Murk Jansen type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9608"	"PTH1R"	"OMIM:156400"	"metaphyseal chondrodysplasia, Jansen type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-18 05:19:32"	""	""	"12357475, 2227830, 22278430, 27160269, 27410178, 29788189, 7701349, 9178745"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTH1R0JMC"	"2023-11-30"
"GENCC_000106-HGNC_9608-OMIM_125350-HP_0000006-GENCC_100002"	"HGNC:9608"	"PTH1R"	"MONDO:0007434"	"primary failure of tooth eruption"	"OMIM:125350"	"Failure of tooth eruption, primary"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9608"	"PTH1R"	"OMIM:125350"	"primary failure of tooth eruption"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-27 12:36:16"	""	""	"19061984, 23771181, 24058597, 2405897, 24300310, 29544499"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTH1R0PFTE"	"2023-11-30"
"GENCC_000106-HGNC_9644-OMIM_156250-HP_0000006-GENCC_100002"	"HGNC:9644"	"PTPN11"	"MONDO:0007979"	"metachondromatosis"	"OMIM:156250"	"Metachondromatosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9644"	"PTPN11"	"OMIM:156250"	"metachondromatosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:14:28"	""	""	"20577567, 21533187"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPN110MC"	"2023-11-30"
"GENCC_000106-HGNC_9644-OMIM_151100-HP_0000006-GENCC_100002"	"HGNC:9644"	"PTPN11"	"MONDO:0100082"	"LEOPARD syndrome 1"	"OMIM:151100"	"LEOPARD syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9644"	"PTPN11"	"OMIM:151100"	"LEOPARD syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-30 10:41:20"	""	""	"21533187"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPN110NSML"	"2023-11-30"
"GENCC_000106-HGNC_9644-OMIM_163950-HP_0000006-GENCC_100002"	"HGNC:9644"	"PTPN11"	"MONDO:0008104"	"Noonan syndrome 1"	"OMIM:163950"	"Noonan syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9644"	"PTPN11"	"OMIM:163950"	"Noonan syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-23 15:00:01"	""	""	"11992261, 21533187"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPN110Noonan"	"2023-11-30"
"GENCC_000106-HGNC_9647-OMIM_613611-HP_0000007-GENCC_100002"	"HGNC:9647"	"PTPN14"	"MONDO:0013324"	"lymphedema-posterior choanal atresia syndrome"	"OMIM:613611"	"Choanal atresia and lymphedema"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9647"	"PTPN14"	"OMIM:613611"	"lymphedema-posterior choanal atresia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"20826270, 29165358"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPN140ChoanalA"	"2023-11-30"
"GENCC_000106-HGNC_14406-OMIM_618890-HP_0000007-GENCC_100002"	"HGNC:14406"	"PTPN23"	"MONDO:0030046"	"neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity"	"OMIM:618890"	"Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14406"	"PTPN23"	"OMIM:618890"	"Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-05 11:40:46"	""	""	"246124, 25558065, 27848944, 28454995, 29090338, 29899372, 31395947"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPN230PTPN23rel"	"2023-11-30"
"GENCC_000106-HGNC_9678-OMIM_614196-HP_0000007-GENCC_100002"	"HGNC:9678"	"PTPRO"	"MONDO:0013619"	"nephrotic syndrome, type 6"	"OMIM:614196"	"Nephrotic syndrome, type 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9678"	"PTPRO"	"OMIM:614196"	"nephrotic syndrome, type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"11086029, 21722858, 280832, 282646, 28780565"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPRO0NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_9679-OMIM_613391-HP_0000007-GENCC_100002"	"HGNC:9679"	"PTPRQ"	"MONDO:0013249"	"autosomal recessive nonsyndromic hearing loss 84A"	"OMIM:613391"	"Deafness, autosomal recessive 84A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9679"	"PTPRQ"	"OMIM:613391"	"autosomal recessive nonsyndromic hearing loss 84A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 22:16:17"	""	""	"14534255, 20346435, 23767834, 25557914, 26969326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPRQ0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_9679-OMIM_617663-HP_0000005-GENCC_100004"	"HGNC:9679"	"PTPRQ"	"MONDO:0033260"	"hearing loss, autosomal dominant 73"	"OMIM:617663"	"Deafness, autosomal dominant 73"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9679"	"PTPRQ"	"OMIM:617663"	"hearing loss, autosomal dominant 73"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-02 10:13:20"	""	""	"29309402"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTPRQ0PTPRQrel"	"2023-11-30"
"GENCC_000106-HGNC_6768-OMIM_619657-HP_0000006-GENCC_100004"	"HGNC:6768"	"SMAD2"	"MONDO:0859213"	"congenital heart defects, multiple types, 8, with or without heterotaxy"	"OMIM:619657"	"Congenital heart defects, multiple types, 8, with or without heterotaxy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6768"	"SMAD2"	"OMIM:619657"	"Congenital heart defects, multiple types, 8, with or without heterotaxy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-12-21 12:37:23"	""	""	"18538293, 23665959, 26247899, 26795593, 30157302, 45374845, 9529255"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD20SMAD2rel"	"2023-11-30"
"GENCC_000106-HGNC_24265-OMIM_616263-HP_0000007-GENCC_100002"	"HGNC:24265"	"PTRH2"	"MONDO:8000012"	"neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1"	"OMIM:616263"	"Infantile-onset multisystem neurologic, endocrine, and pancreatic disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24265"	"PTRH2"	"OMIM:616263"	"neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-30 15:42:20"	""	""	"18218778, 25558065, 25574476, 37239392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PTRH20Infantil"	"2023-11-30"
"GENCC_000106-HGNC_9701-OMIM_616158-HP_0000006-GENCC_100002"	"HGNC:9701"	"PURA"	"MONDO:0014512"	"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"	"OMIM:616158"	"Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9701"	"PURA"	"OMIM:616158"	"Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-11 19:10:26"	""	""	"25439098, 29097605, 36376392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PURA0PURA"	"2023-11-30"
"GENCC_000106-HGNC_15508-OMIM_600462-HP_0000007-GENCC_100002"	"HGNC:15508"	"PUS1"	"MONDO:0024553"	"myopathy, lactic acidosis, and sideroblastic anemia 1"	"OMIM:600462"	"Myopathy, lactic acidosis, and sideroblastic anemia 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15508"	"PUS1"	"OMIM:600462"	"myopathy, lactic acidosis, and sideroblastic anemia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 09:32:50"	""	""	"17056637, 19731322, 25058219, 26556812, 27197761"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PUS10MitoMyopSidero"	"2023-11-30"
"GENCC_000106-HGNC_25461-OMIM_617051-HP_0000007-GENCC_100002"	"HGNC:25461"	"PUS3"	"MONDO:0014886"	"severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"	"OMIM:617051"	"Neurodevelopmental disorder with microcephaly and gray sclerae"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25461"	"PUS3"	"OMIM:617051"	"severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:31:14"	""	""	"27055666, 28454995, 30308082, 31444731"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PUS30ID"	"2023-11-30"
"GENCC_000106-HGNC_26033-OMIM_618342-HP_0000007-GENCC_100002"	"HGNC:26033"	"PUS7"	"MONDO:0032687"	"intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"	"OMIM:618342"	"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26033"	"PUS7"	"OMIM:618342"	"intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-18 20:31:11"	""	""	"27457812, 30526862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PUS70Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_30262-OMIM_616420-HP_0000007-GENCC_100002"	"HGNC:30262"	"PYCR2"	"MONDO:0014632"	"hypomyelinating leukodystrophy 10"	"OMIM:616420"	"Leukodystrophy, hypomyelinating, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30262"	"PYCR2"	"OMIM:616420"	"hypomyelinating leukodystrophy 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-08 20:02:12"	""	""	"25865492, 27130255, 27391121, 27860360, 28496993, 30125339, 30369941, 30829456"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PYCR20Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_21495-OMIM_619662-HP_0000007-GENCC_100002"	"HGNC:21495"	"KIF12"	"MONDO:0030505"	"cholestasis, progressive familial intrahepatic, 8"	"OMIM:619662"	"Cholestasis, progressive familial intrahepatic, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21495"	"KIF12"	"OMIM:619662"	"Cholestasis, progressive familial intrahepatic, 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-27 07:51:56"	""	""	"30250217, 30976738, 34555379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF120Cholesta09"	"2023-11-30"
"GENCC_000106-HGNC_24713-OMIM_617982-HP_0000006-GENCC_100002"	"HGNC:24713"	"QRICH1"	"MONDO:0060707"	"Ververi-Brady syndrome"	"OMIM:617982"	"Ververi-Brady syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24713"	"QRICH1"	"OMIM:617982"	"Ververi-Brady syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:25:56"	""	""	"28692176"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"QRICH10QRICH1rel"	"2023-11-30"
"GENCC_000106-HGNC_14263-OMIM_201000-HP_0000007-GENCC_100002"	"HGNC:14263"	"RAB23"	"MONDO:0008710"	"RAB23-related Carpenter syndrome"	"OMIM:201000"	"Carpenter syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14263"	"RAB23"	"OMIM:201000"	"RAB23-related Carpenter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 12:24:20"	""	""	"17503333, 20358613, 21412941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB230Carpenter"	"2023-11-30"
"GENCC_000106-HGNC_17063-OMIM_600118-HP_0000007-GENCC_100002"	"HGNC:17063"	"RAB3GAP1"	"MONDO:0010822"	"Warburg micro syndrome 1"	"OMIM:600118"	"Warburg micro syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17063"	"RAB3GAP1"	"OMIM:600118"	"Warburg micro syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-05 19:07:53"	""	""	"23420520, 26852512"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB3GAP10WarburgMicro"	"2023-11-30"
"GENCC_000106-HGNC_17168-OMIM_614225-HP_0000007-GENCC_100002"	"HGNC:17168"	"RAB3GAP2"	"MONDO:0013641"	"Warburg micro syndrome 2"	"OMIM:614225"	"Warburg micro syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17168"	"RAB3GAP2"	"OMIM:614225"	"Warburg micro syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:53"	""	""	"16532399, 23420520"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAB3GAP20WarburgMicro"	"2023-11-30"
"GENCC_000106-HGNC_17976-OMIM_619689-HP_0000005-GENCC_100004"	"HGNC:17976"	"RPL10L"	"MONDO:0030515"	"spermatogenic failure 63"	"OMIM:619689"	"?Spermatogenic failure 63"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17976"	"RPL10L"	"OMIM:619689"	"Neurocardiofaciodigital syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-19 14:54:46"	""	""	"32111475"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL10L0RPL10Lrel"	"2023-11-30"
"GENCC_000106-HGNC_9894-OMIM_619690-HP_0000007-GENCC_100002"	"HGNC:9894"	"RBL2"	"MONDO:0859217"	"Brunet-Wagner neurodevelopmental syndrome"	"OMIM:619690"	"Brunet-Wagner neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9894"	"RBL2"	"OMIM:619690"	"Brunet-Wagner neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 13:47:56"	""	""	"29631995, 30289599, 32105419, 33980986, 35487417"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBL20RBL2rel"	"2023-11-30"
"GENCC_000106-HGNC_9811-OMIM_611376-HP_0000005-GENCC_100004"	"HGNC:9811"	"RAD21"	"MONDO:0012657"	"Mungan syndrome"	"OMIM:611376"	"?Mungan syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9811"	"RAD21"	"OMIM:611376"	"Mungan syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-07-29 09:54:23"	""	""	"25575569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAD210CIPO"	"2023-11-30"
"GENCC_000106-HGNC_9811-OMIM_614701-HP_0000006-GENCC_100002"	"HGNC:9811"	"RAD21"	"MONDO:0013864"	"Cornelia de Lange syndrome 4"	"OMIM:614701"	"Cornelia de Lange syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9811"	"RAD21"	"OMIM:614701"	"Cornelia de Lange syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 20:02:54"	""	""	"22633399, 24378232, 25125236, 27620904, 27882533, 300826, 31334757, 604358"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAD210CdLS"	"2023-11-30"
"GENCC_000106-HGNC_9816-OMIM_613078-HP_0000007-GENCC_100002"	"HGNC:9816"	"RAD50"	"MONDO:0013118"	"Nijmegen breakage syndrome-like disorder"	"OMIM:613078"	"Nijmegen breakage syndrome-like disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9816"	"RAD50"	"OMIM:613078"	"Nijmegen breakage syndrome-like disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-19 09:22:39"	""	""	"19409520, 3221237, 32212377"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAD500NBSLD0NijmegLk"	"2023-11-30"
"GENCC_000106-HGNC_9817-OMIM_617244-HP_0000006-GENCC_100002"	"HGNC:9817"	"RAD51"	"MONDO:0014986"	"Fanconi anemia complementation group R"	"OMIM:617244"	"Fanconi anemia, complementation group R"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9817"	"RAD51"	"OMIM:617244"	"Fanconi anemia complementation group R"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 18:18:09"	""	""	"26253028, 26681308, 30907510, 36698515"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAD510Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_9817-OMIM_614508-HP_0000006-GENCC_100002"	"HGNC:9817"	"RAD51"	"MONDO:0013790"	"mirror movements 2"	"OMIM:614508"	"Mirror movements 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9817"	"RAD51"	"OMIM:614508"	"mirror movements 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-20 20:44:44"	""	""	"22305526, 24808016, 25813273, 279760, 37308287"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAD510MirrorMo"	"2023-11-30"
"GENCC_000106-HGNC_9820-OMIM_613390-HP_0000007-GENCC_100002"	"HGNC:9820"	"RAD51C"	"MONDO:0013248"	"Fanconi anemia complementation group O"	"OMIM:613390"	"Fanconi anemia, complementation group O"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9820"	"RAD51C"	"OMIM:613390"	"Fanconi anemia complementation group O"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:06"	""	""	"20400963, 20952512, 29278735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAD51C0Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_9820-OMIM_613399-HP_0000006-GENCC_100002"	"HGNC:9820"	"RAD51C"	"MONDO:0013253"	"breast-ovarian cancer, familial, susceptibility to, 3"	"OMIM:613399"	"{Breast-ovarian cancer, familial, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9820"	"RAD51C"	"OMIM:613399"	"breast-ovarian cancer, familial, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-22 12:25:13"	""	""	"20400964, 21616938, 21990120, 22451500, 22538716, 22725699, 24800917, 25470109, 26261251, 26720728, 26740214, 27296296, 27433846, 27622768, 28008555, 28418444, 28888541, 29659569, 29988077, 30099541, 30128536, 30733081, 32064047, 32091585, 32107557, 32295079, 32359370, 32809180, 33008098"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAD51C0RAD51CrelCanc"	"2023-11-30"
"GENCC_000106-HGNC_9829-OMIM_615916-HP_0000006-GENCC_100002"	"HGNC:9829"	"RAF1"	"MONDO:0014396"	"dilated cardiomyopathy 1NN"	"OMIM:615916"	"Cardiomyopathy, dilated, 1NN"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9829"	"RAF1"	"OMIM:615916"	"dilated cardiomyopathy 1NN"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-11-02 11:32:48"	""	""	"24777450"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAF10DCM"	"2023-11-30"
"GENCC_000106-HGNC_9829-OMIM_611554-HP_0000006-GENCC_100002"	"HGNC:9829"	"RAF1"	"MONDO:0012691"	"LEOPARD syndrome 2"	"OMIM:611554"	"LEOPARD syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9829"	"RAF1"	"OMIM:611554"	"LEOPARD syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-11 12:00:41"	""	""	"17603482, 24777450"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAF10NSML"	"2023-11-30"
"GENCC_000106-HGNC_9829-OMIM_611553-HP_0000006-GENCC_100002"	"HGNC:9829"	"RAF1"	"MONDO:0012690"	"Noonan syndrome 5"	"OMIM:611553"	"Noonan syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9829"	"RAF1"	"OMIM:611553"	"Noonan syndrome 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-04 16:38:50"	""	""	"17603482, 24777450"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAF10Noonan"	"2023-11-30"
"GENCC_000106-HGNC_9831-OMIM_601457-HP_0000007-GENCC_100002"	"HGNC:9831"	"RAG1"	"MONDO:0011086"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"	"OMIM:601457"	"Severe combined immunodeficiency, B cell-negative"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9831"	"RAG1"	"OMIM:601457"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-08 16:42:42"	""	""	"11133745, 16276422, 21617701, 24290284"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAG10SCID"	"2023-11-30"
"GENCC_000106-HGNC_9832-OMIM_601457-HP_0000007-GENCC_100002"	"HGNC:9832"	"RAG2"	"MONDO:0011086"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"	"OMIM:601457"	"Severe combined immunodeficiency, B cell-negative"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9832"	"RAG2"	"OMIM:601457"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:05"	""	""	"21184155, 2618670, 8810255"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAG20SCID"	"2023-11-30"
"GENCC_000106-HGNC_9834-OMIM_182290-HP_0000006-GENCC_100002"	"HGNC:9834"	"RAI1"	"MONDO:0008434"	"Smith-Magenis syndrome"	"OMIM:182290"	"Smith-Magenis syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9834"	"RAI1"	"OMIM:182290"	"Smith-Magenis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"20738874, 21857958, 24715852"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAI10SmithMagenis"	"2023-11-30"
"GENCC_000106-HGNC_9839-OMIM_619311-HP_0000006-GENCC_100002"	"HGNC:9839"	"RALA"	"MONDO:0859142"	"Hiatt-Neu-Cooper neurodevelopmental syndrome"	"OMIM:619311"	"Hiatt-Neu-Cooper neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9839"	"RALA"	"OMIM:619311"	"Hiatt-Neu-Cooper neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-11 12:43:28"	""	""	"30500825, 30761613"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RALA0RALArel"	"2023-11-30"
"GENCC_000106-HGNC_17770-OMIM_618797-HP_0000007-GENCC_100002"	"HGNC:17770"	"RALGAPA1"	"MONDO:0032921"	"neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation"	"OMIM:618797"	"Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17770"	"RALGAPA1"	"OMIM:618797"	"neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-05-04 12:16:09"	""	""	"19733229, 28940419, 32004447"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RALGAPA10RALGAPA1rel"	"2023-11-30"
"GENCC_000106-HGNC_16854-OMIM_618075-HP_0000006-GENCC_100004"	"HGNC:16854"	"RAPGEF2"	"MONDO:0054847"	"epilepsy, familial adult myoclonic, 7"	"OMIM:618075"	"?Epilepsy, familial adult myoclonic, 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16854"	"RAPGEF2"	"OMIM:618075"	"?Epilepsy, familial adult myoclonic, 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-23 14:14:52"	""	""	"29507423, 30351492"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAPGEF20FCMTE"	"2023-11-30"
"GENCC_000106-HGNC_9863-OMIM_616326-HP_0000007-GENCC_100002"	"HGNC:9863"	"RAPSN"	"MONDO:0014588"	"congenital myasthenic syndrome 11"	"OMIM:616326"	"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9863"	"RAPSN"	"OMIM:616326"	"congenital myasthenic syndrome 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-28 13:32:05"	""	""	"17686188, 18179903, 18252226"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAPSN0CMS"	"2023-11-30"
"GENCC_000106-HGNC_25287-OMIM_619694-HP_0000006-GENCC_100002"	"HGNC:25287"	"LMBRD2"	"MONDO:0859218"	"developmental delay with variable neurologic and brain abnormalities"	"OMIM:619694"	"Developmental delay with variable neurologic and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25287"	"LMBRD2"	"OMIM:619694"	"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-24 11:24:54"	""	""	"28333917, 32820033"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LMBRD20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_9865-OMIM_615524-HP_0000006-GENCC_100002"	"HGNC:9865"	"RARB"	"MONDO:0014229"	"microphthalmia, syndromic 12"	"OMIM:615524"	"Microphthalmia, syndromic 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9865"	"RARB"	"OMIM:615524"	"microphthalmia, syndromic 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-20 18:26:14"	""	""	"27120018"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RARB0Microphthal02"	"2023-11-30"
"GENCC_000106-HGNC_9870-OMIM_616140-HP_0000005-GENCC_100004"	"HGNC:9870"	"RARS1"	"MONDO:0014506"	"hypomyelinating leukodystrophy 9"	"OMIM:616140"	"Leukodystrophy, hypomyelinating, 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9870"	"RARS1"	"OMIM:616140"	"hypomyelinating leukodystrophy 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:04"	""	""	"26736064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RARS0COPD"	"2023-11-30"
"GENCC_000106-HGNC_9870-OMIM_616140-HP_0000007-GENCC_100002"	"HGNC:9870"	"RARS1"	"MONDO:0014506"	"hypomyelinating leukodystrophy 9"	"OMIM:616140"	"Leukodystrophy, hypomyelinating, 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9870"	"RARS1"	"OMIM:616140"	"hypomyelinating leukodystrophy 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:04"	""	""	"19684605, 23918763, 24777941, 27848944, 28905880, 29451896, 30500859, 30791064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RARS0Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_9871-OMIM_608355-HP_0000006-GENCC_100002"	"HGNC:9871"	"RASA1"	"MONDO:0020783"	"capillary malformation-arteriovenous malformation 1"	"OMIM:608355"	"OMIM:608355"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9871"	"RASA1"	"OMIM:608355"	"Parkes Weber syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"24038909"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RASA10CMAVM"	"2023-11-30"
"GENCC_000106-HGNC_12766-OMIM_619695-HP_0000006-GENCC_100002"	"HGNC:12766"	"NSD2"	"MONDO:0859219"	"Rauch-Steindl syndrome"	"OMIM:619695"	"Rauch-Steindl syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12766"	"NSD2"	"OMIM:619695"	"Rauch-Steindl syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-27 09:06:54"	""	""	"26633542, 28600779, 29760529, 29892088, 30244530, 30345613, 31171569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WHSC10WHS"	"2023-11-30"
"GENCC_000106-HGNC_18662-OMIM_611038-HP_0000007-GENCC_100002"	"HGNC:18662"	"RAX"	"MONDO:0012604"	"isolated microphthalmia 3"	"OMIM:611038"	"Microphthalmia, syndromic 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18662"	"RAX"	"OMIM:611038"	"isolated microphthalmia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-03-26 16:00:25"	""	""	"14662654, 15789424, 18783408, 24033328, 9177348"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAX0Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_18286-OMIM_610381-HP_0000006-GENCC_100002"	"HGNC:18286"	"RAX2"	"MONDO:0012483"	"cone-rod dystrophy 11"	"OMIM:610381"	"Cone-rod dystrophy 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18286"	"RAX2"	"OMIM:610381"	"cone-rod dystrophy 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 18:41:39"	""	""	"12403708, 15028672, 25789692, 25986607"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAX20ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_17380-OMIM_619699-HP_0000007-GENCC_100002"	"HGNC:17380"	"ANAPC7"	"MONDO:0859220"	"Ferguson-Bonni neurodevelopmental syndrome"	"OMIM:619699"	"Ferguson-Bonni neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17380"	"ANAPC7"	"OMIM:619699"	"Ferguson-Bonni neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 14:42:28"	""	""	"34942119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANAPC70FERBON"	"2023-11-30"
"GENCC_000106-HGNC_9891-OMIM_251255-HP_0000007-GENCC_100002"	"HGNC:9891"	"RBBP8"	"MONDO:0009622"	"Jawad syndrome"	"OMIM:251255"	"Jawad syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9891"	"RBBP8"	"OMIM:251255"	"Jawad syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 15:47:19"	""	""	"15831459, 21998596, 24389050, 24440292, 26333564, 34270086"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBBP80Jawad"	"2023-11-30"
"GENCC_000106-HGNC_15864-OMIM_615895-HP_0000007-GENCC_100002"	"HGNC:15864"	"RBCK1"	"MONDO:0014389"	"polyglucosan body myopathy 1 with or without immunodeficiency"	"OMIM:615895"	"Polyglucosan body myopathy 1 with or without immunodeficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15864"	"RBCK1"	"OMIM:615895"	"polyglucosan body myopathy 1 with or without immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 17:22:56"	""	""	"22309894, 23104095, 2379848, 23798481, 23889995, 25599590"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBCK10GSD"	"2023-11-30"
"GENCC_000106-HGNC_25590-OMIM_619701-HP_0000007-GENCC_100002"	"HGNC:25590"	"OGDHL"	"MONDO:0859221"	"Yoon-Bellen neurodevelopmental syndrome"	"OMIM:619701"	"Yoon-Bellen neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25590"	"OGDHL"	"OMIM:619701"	"Yoon-Bellen neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-24 11:24:06"	""	""	"34800363"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"OGDHL0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_27424-OMIM_613172-HP_0000006-GENCC_100002"	"HGNC:27424"	"RBM20"	"MONDO:0013168"	"dilated cardiomyopathy 1DD"	"OMIM:613172"	"Cardiomyopathy, dilated, 1DD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:27424"	"RBM20"	"OMIM:613172"	"dilated cardiomyopathy 1DD"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 13:46:01"	""	""	"19712804, 20590677, 22004663, 22466703, 24503780, 29650543, 30547036, 31514951, 32056050"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBM200DCM"	"2023-11-30"
"GENCC_000106-HGNC_21863-OMIM_612079-HP_0000007-GENCC_100002"	"HGNC:21863"	"RBM28"	"MONDO:0012794"	"ANE syndrome"	"OMIM:612079"	"?Alopecia, neurologic defects, and endocrinopathy syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21863"	"RBM28"	"OMIM:612079"	"ANE syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-11 08:03:48"	""	""	"33941690, 18439547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBM280?Alopeci"	"2023-11-30"
"GENCC_000106-HGNC_9910-OMIM_300238-HP_0000005-GENCC_100004"	"HGNC:9910"	"RBMX"	"MONDO:0010277"	"syndromic X-linked intellectual disability Shashi type"	"OMIM:300238"	"?Intellectual developmental disorder, X-linked syndromic, Shashi type"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9910"	"RBMX"	"OMIM:300238"	"syndromic X-linked intellectual disability Shashi type"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-13 20:52:43"	""	""	"25256757"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBMX0?MentalR05"	"2023-11-30"
"GENCC_000106-HGNC_9922-OMIM_616428-HP_0000006-GENCC_100002"	"HGNC:9922"	"RBP4"	"MONDO:0014635"	"microphthalmia, isolated, with coloboma 10"	"OMIM:616428"	"Microphthalmia/coloboma 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9922"	"RBP4"	"OMIM:616428"	"microphthalmia, isolated, with coloboma 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 02:38:14"	""	""	"25910211, 29178648"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBP40MAC"	"2023-11-30"
"GENCC_000106-HGNC_9922-OMIM_615147-HP_0000007-GENCC_100002"	"HGNC:9922"	"RBP4"	"MONDO:0014060"	"progressive retinal dystrophy due to retinol transport defect"	"OMIM:615147"	"Retinal dystrophy, iris coloboma, and comedogenic acne syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9922"	"RBP4"	"OMIM:615147"	"progressive retinal dystrophy due to retinol transport defect"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:53"	""	""	"10232633, 12048218, 16034410, 16157297, 23189188, 25910211, 26974396, 27892788, 28041643, 9888420"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBP40RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_5724-OMIM_614814-HP_0000006-GENCC_100002"	"HGNC:5724"	"RBPJ"	"MONDO:0013895"	"Adams-Oliver syndrome 3"	"OMIM:614814"	"Adams-Oliver syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:5724"	"RBPJ"	"OMIM:614814"	"Adams-Oliver syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:34"	""	""	"22883147, 240680, 29924900"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RBPJ0AdamsOliver"	"2023-11-30"
"GENCC_000106-HGNC_29434-OMIM_618998-HP_0000005-GENCC_100004"	"HGNC:29434"	"RC3H1"	"MONDO:0033557"	"hemophagocytic lymphohistiocytosis, familial, 6"	"OMIM:618998"	"?Immune dysregulation and systemic hyperinflammation syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29434"	"RC3H1"	"OMIM:618998"	"?Immune dysregulation and systemic hyperinflammation syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:57"	""	""	"15917799, 21844204, 24889358, 31636267"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RC3H10RC3H1rel"	"2023-11-30"
"GENCC_000106-HGNC_18243-OMIM_617175-HP_0000007-GENCC_100002"	"HGNC:18243"	"RCBTB1"	"MONDO:0014955"	"RCBTB1-related retinopathy"	"OMIM:617175"	"Retinal dystrophy with or without extraocular anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18243"	"RCBTB1"	"OMIM:617175"	"RCBTB1-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:29:44"	""	""	"26908610, 27486781, 27608171, 31494449, 33624564"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RCBTB10RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_17964-OMIM_616108-HP_0000007-GENCC_100002"	"HGNC:17964"	"RDH11"	"MONDO:0014495"	"retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"	"OMIM:616108"	"?Retinal dystrophy, juvenile cataracts, and short stature syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17964"	"RDH11"	"OMIM:616108"	"retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"15790565, 24916380"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RDH110RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_19977-OMIM_612712-HP_0000007-GENCC_100002"	"HGNC:19977"	"RDH12"	"MONDO:0012990"	"Leber congenital amaurosis 13"	"OMIM:612712"	"Leber congenital amaurosis 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19977"	"RDH12"	"OMIM:612712"	"Leber congenital amaurosis 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 21:27:41"	""	""	"17964524, 22065924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RDH120Leber"	"2023-11-30"
"GENCC_000106-HGNC_19977-OMIM_612712-HP_0000006-GENCC_100002"	"HGNC:19977"	"RDH12"	"MONDO:0012990"	"Leber congenital amaurosis 13"	"OMIM:612712"	"Leber congenital amaurosis 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19977"	"RDH12"	"OMIM:612712"	"Leber congenital amaurosis 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 21:27:41"	""	""	"18779497, 32322264, 34031043"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RDH120RP"	"2023-11-30"
"GENCC_000106-HGNC_11241-OMIM_619707-HP_0000006-GENCC_100002"	"HGNC:11241"	"SPI1"	"MONDO:0030529"	"agammaglobulinemia 10, autosomal dominant"	"OMIM:619707"	"Agammaglobulinemia 10, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11241"	"SPI1"	"OMIM:619707"	"Agammaglobulinemia 10, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-26 15:31:36"	""	""	"19966852, 33951726"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPI10SPI1rel"	"2023-11-30"
"GENCC_000106-HGNC_25786-OMIM_614751-HP_0000006-GENCC_100002"	"HGNC:25786"	"REEP1"	"MONDO:0013884"	"neuronopathy, distal hereditary motor, type 5B"	"OMIM:614751"	"?Neuronopathy, distal hereditary motor, autosomal dominant 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25786"	"REEP1"	"OMIM:614751"	"neuronopathy, distal hereditary motor, type 5B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-22 16:32:06"	""	""	"18321925, 22703882"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REEP10HMN"	"2023-11-30"
"GENCC_000106-HGNC_26532-OMIM_619712-HP_0000007-GENCC_100002"	"HGNC:26532"	"DNHD1"	"MONDO:0030531"	"spermatogenic failure 65"	"OMIM:619712"	"Spermatogenic failure 65"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26532"	"DNHD1"	"OMIM:619712"	"Spermatogenic failure 65"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 19:12:11"	""	""	"34932939"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNHD10MMAF"	"2023-11-30"
"GENCC_000106-HGNC_25786-OMIM_610250-HP_0000006-GENCC_100002"	"HGNC:25786"	"REEP1"	"MONDO:0012453"	"hereditary spastic paraplegia 31"	"OMIM:610250"	"Spastic paraplegia 31, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25786"	"REEP1"	"OMIM:610250"	"hereditary spastic paraplegia 31"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-22 16:32:11"	""	""	"18321925, 18644145"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REEP10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_17975-OMIM_615625-HP_0000006-GENCC_100002"	"HGNC:17975"	"REEP2"	"MONDO:0014282"	"hereditary spastic paraplegia 72"	"OMIM:615625"	"Spastic paraplegia 72A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17975"	"REEP2"	"OMIM:615625"	"hereditary spastic paraplegia 72"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:06"	""	""	"2438863, 24388663, 28491902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REEP20SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_17975-OMIM_615625-HP_0000007-GENCC_100002"	"HGNC:17975"	"REEP2"	"MONDO:0014282"	"hereditary spastic paraplegia 72"	"OMIM:615625"	"Spastic paraplegia 72A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17975"	"REEP2"	"OMIM:615625"	"hereditary spastic paraplegia 72"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:06"	""	""	"24388663, 24482476"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REEP20SpasticPara02"	"2023-11-30"
"GENCC_000106-HGNC_9954-OMIM_619652-HP_0000007-GENCC_100002"	"HGNC:9954"	"REL"	"MONDO:0030498"	"immunodeficiency 92"	"OMIM:619652"	"Immunodeficiency 92"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9954"	"REL"	"OMIM:619652"	"Immunodeficiency 92"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 13:35:20"	""	""	"31103457, 34623332"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REL0CID"	"2023-11-30"
"GENCC_000106-HGNC_9955-OMIM_618287-HP_0000006-GENCC_100002"	"HGNC:9955"	"RELA"	"MONDO:0032659"	"mucocutaneous ulceration, chronic"	"OMIM:618287"	"Autoinflammatory disease, familial, Behcet-like-3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9955"	"RELA"	"OMIM:618287"	"mucocutaneous ulceration, chronic"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-22 21:39:04"	""	""	"26178921, 28600438"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RELA0RELAmucocutan"	"2023-11-30"
"GENCC_000106-HGNC_6172-OMIM_619714-HP_0000006-GENCC_100002"	"HGNC:6172"	"STT3A"	"MONDO:0859223"	"congenital disorder of glycosylation, type Iw, autosomal dominant"	"OMIM:619714"	"Congenital disorder of glycosylation, type Iw, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6172"	"STT3A"	"OMIM:619714"	"Cleft palate, proliferative retinopathy, and developmental delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-24 11:17:22"	""	""	"34653363"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STT3A0STT3ACDG02"	"2023-11-30"
"GENCC_000106-HGNC_9957-OMIM_616436-HP_0000006-GENCC_100002"	"HGNC:9957"	"RELN"	"MONDO:0014639"	"familial temporal lobe epilepsy 7"	"OMIM:616436"	"{Epilepsy, familial temporal lobe, 7}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9957"	"RELN"	"OMIM:616436"	"familial temporal lobe epilepsy 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-30 05:58:09"	""	""	"10973257, 26046367, 37625192"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RELN0ETL1"	"2023-11-30"
"GENCC_000106-HGNC_9957-OMIM_257320-HP_0000007-GENCC_100002"	"HGNC:9957"	"RELN"	"MONDO:0009760"	"Norman-Roberts syndrome"	"OMIM:257320"	"Lissencephaly 2 (Norman-Roberts type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9957"	"RELN"	"OMIM:257320"	"Norman-Roberts syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 09:53:09"	""	""	"10973257, 26046367, 28454995, 29671837, 7715726"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RELN0Lissencephaly"	"2023-11-30"
"GENCC_000106-HGNC_13764-OMIM_618386-HP_0000007-GENCC_100002"	"HGNC:13764"	"RELT"	"MONDO:0032717"	"amelogenesis imperfecta, type 3C"	"OMIM:618386"	"Amelogenesis imperfecta, type IIIC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13764"	"RELT"	"OMIM:618386"	"amelogenesis imperfecta, type 3c"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-20 19:47:14"	""	""	"30506946"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RELT0AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_9958-OMIM_613092-HP_0000006-GENCC_100002"	"HGNC:9958"	"REN"	"MONDO:0013128"	"familial juvenile hyperuricemic nephropathy type 2"	"OMIM:613092"	"Tubulointerstitial kidney disease, autosomal dominant, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9958"	"REN"	"OMIM:613092"	"familial juvenile hyperuricemic nephropathy type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:05:14"	""	""	"19664745, 21084044, 21903317, 28701203"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REN0Hyperuri"	"2023-11-30"
"GENCC_000106-HGNC_9958-OMIM_267430-HP_0000007-GENCC_100002"	"HGNC:9958"	"REN"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"OMIM:267430"	"Renal tubular dysgenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9958"	"REN"	"OMIM:267430"	"renal tubular dysgenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-07 14:19:00"	""	""	"16116425, 17443344, 22095942, 251356, 251364, 251412, 27994858"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REN0RenalTub"	"2023-11-30"
"GENCC_000106-HGNC_15578-OMIM_617916-HP_0000005-GENCC_100004"	"HGNC:15578"	"REPS1"	"MONDO:0054763"	"neurodegeneration with brain iron accumulation 7"	"OMIM:617916"	"?Neurodegeneration with brain iron accumulation 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15578"	"REPS1"	"OMIM:617916"	"?Neurodegeneration with brain iron accumulation 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:08"	""	""	"190000, 190010, 29395073"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REPS10NBIA"	"2023-11-30"
"GENCC_000106-HGNC_9966-OMIM_617626-HP_0000006-GENCC_100002"	"HGNC:9966"	"REST"	"MONDO:0033493"	"fibromatosis, gingival, 5"	"OMIM:617626"	"Fibromatosis, gingival, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9966"	"REST"	"OMIM:617626"	"fibromatosis, gingival, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-15 22:24:47"	""	""	"28686854, 33719663, 35665929, 36509837"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REST0HeredGingFib1"	"2023-11-30"
"GENCC_000106-HGNC_9966-OMIM_616806-HP_0000006-GENCC_100002"	"HGNC:9966"	"REST"	"MONDO:0014779"	"Wilms tumor 6"	"OMIM:616806"	"{Wilms tumor 6, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9966"	"REST"	"OMIM:616806"	"Wilms tumor 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:08:04"	""	""	"26551668, 30885698, 34134020, 9771705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REST0WilmsTumor"	"2023-11-30"
"GENCC_000106-HGNC_11623-OMIM_619718-HP_0000006-GENCC_100002"	"HGNC:11623"	"TCF12"	"MONDO:0030534"	"hypogonadotropic hypogonadism 26 with or without anosmia"	"OMIM:619718"	"Hypogonadotropic hypogonadism 26 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11623"	"TCF12"	"OMIM:619718"	"Hypogonadotropic hypogonadism 26 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-26 15:30:55"	""	""	"23354436, 32620954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCF120Kallmann"	"2023-11-30"
"GENCC_000106-HGNC_9967-OMIM_162300-HP_0000006-GENCC_100002"	"HGNC:9967"	"RET"	"MONDO:0008082"	"multiple endocrine neoplasia type 2B"	"OMIM:162300"	"Multiple endocrine neoplasia IIB"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9967"	"RET"	"OMIM:162300"	"multiple endocrine neoplasia type 2B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:26:00"	""	""	"10049754, 10679286, 10812967, 11585664, 1672289, 16954442, 21552134, 22734615, 2886918, 31390501, 31877737, 8099202, 8626834, 8918855, 9096393, 9230192"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RET0MEN2"	"2023-11-30"
"GENCC_000106-HGNC_9969-OMIM_614575-HP_0000007-GENCC_100002"	"HGNC:9969"	"RFC1"	"MONDO:0044720"	"cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"	"OMIM:614575"	"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9969"	"RFC1"	"OMIM:614575"	"cerebellar ataxia, neuropathy, and vestibular areflexia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-11 12:13:21"	""	""	"32040566, 36289003"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RFC10CANVAS"	"2023-11-30"
"GENCC_000106-HGNC_60-OMIM_619719-HP_0000007-GENCC_100004"	"HGNC:60"	"ABCC9"	"MONDO:0859224"	"intellectual disability and myopathy syndrome"	"OMIM:619719"	"Intellectual disability and myopathy syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:60"	"ABCC9"	"OMIM:619719"	"Intellectual disability and myopathy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-31 08:14:54"	""	""	"31575858"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ABCC90Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_9986-OMIM_209920-HP_0000007-GENCC_100002"	"HGNC:9986"	"RFX5"	"MONDO:0008855"	"MHC class II deficiency"	"OMIM:209920"	"MHC class II deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9986"	"RFX5"	"OMIM:209920"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:09"	""	""	"10079298, 10395672, 12368908, 25001848, 7744245, 9401005, 9491996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RFX50MGH2"	"2023-11-30"
"GENCC_000106-HGNC_21478-OMIM_615710-HP_0000007-GENCC_100002"	"HGNC:21478"	"RFX6"	"MONDO:0017400"	"hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome"	"OMIM:615710"	"Mitchell-Riley syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21478"	"RFX6"	"OMIM:615710"	"Mitchell-Riley syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:04"	""	""	"20148032"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RFX60MitchellRiley"	"2023-11-30"
"GENCC_000106-HGNC_535-OMIM_619733-HP_0000006-GENCC_100004"	"HGNC:535"	"ANXA11"	"MONDO:0850514"	"inclusion body myopathy and brain white matter abnormalities"	"OMIM:619733"	"Inclusion body myopathy and brain white matter abnormalities"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:535"	"ANXA11"	"OMIM:619733"	"Inclusion body myopathy and brain white matter abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-01-20 21:44:57"	""	""	"28856709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANXA110RettSyndrome"	"2023-11-30"
"GENCC_000106-HGNC_9988-OMIM_209920-HP_0000007-GENCC_100002"	"HGNC:9988"	"RFXAP"	"MONDO:0008855"	"MHC class II deficiency"	"OMIM:209920"	"MHC class II deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9988"	"RFXAP"	"OMIM:209920"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:05"	""	""	"20197681, 22390233, 25001848, 9118943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RFXAP0MGH2"	"2023-11-30"
"GENCC_000106-HGNC_9990-OMIM_613769-HP_0000005-GENCC_100004"	"HGNC:9990"	"RGR"	"MONDO:0013414"	"retinitis pigmentosa 44"	"OMIM:613769"	"Retinitis pigmentosa 44"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9990"	"RGR"	"OMIM:613769"	"retinitis pigmentosa 44"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-26 08:30:43"	""	""	"10581022, 11431696, 26747767, 27623334, 27748892, 30337596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RGR0RP"	"2023-11-30"
"GENCC_000106-HGNC_30304-OMIM_608415-HP_0000007-GENCC_100002"	"HGNC:30304"	"RGS9BP"	"MONDO:0012033"	"bradyopsia"	"OMIM:608415"	"Prolonged electroretinal response suppression 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30304"	"RGS9BP"	"OMIM:608415"	"bradyopsia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 21:04:39"	""	""	"14702087, 17698770, 19818506, 26957898"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RGS9BP0Bradyopsia"	"2023-11-30"
"GENCC_000106-HGNC_10006-OMIM_268150-HP_0000007-GENCC_100002"	"HGNC:10006"	"RHAG"	"MONDO:0019107"	"Rh deficiency syndrome"	"OMIM:268150"	"Anemia, hemolytic, Rh-null, regulator type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10006"	"RHAG"	"OMIM:268150"	"Anemia, hemolytic, Rh-null, regulator type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"28470789, 9759472"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHAG0Anemia,H03"	"2023-11-30"
"GENCC_000106-HGNC_10012-OMIM_610445-HP_0000006-GENCC_100002"	"HGNC:10012"	"RHO"	"MONDO:0012498"	"congenital stationary night blindness autosomal dominant 1"	"OMIM:610445"	"Night blindness, congenital stationary, autosomal dominant 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10012"	"RHO"	"OMIM:610445"	"congenital stationary night blindness autosomal dominant 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 17:40:04"	""	""	"18487375, 20238025, 24931191, 8358437, 9888392"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHO0NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_10012-OMIM_613731-HP_0000006-GENCC_100002"	"HGNC:10012"	"RHO"	"MONDO:0013395"	"retinitis pigmentosa 4"	"OMIM:613731"	"Retinitis pigmentosa 4, autosomal dominant or recessive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10012"	"RHO"	"OMIM:613731"	"retinitis pigmentosa 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 22:35:20"	""	""	"1301135, 15823756, 16865192, 18188946, 1833777, 24265693, 26416182, 29042326, 32301896, 7987331, 8317502"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHO0RP"	"2023-11-30"
"GENCC_000106-HGNC_10012-OMIM_613731-HP_0000007-GENCC_100002"	"HGNC:10012"	"RHO"	"MONDO:0013395"	"retinitis pigmentosa 4"	"OMIM:613731"	"Retinitis pigmentosa 4, autosomal dominant or recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10012"	"RHO"	"OMIM:613731"	"retinitis pigmentosa 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 22:35:20"	""	""	"1303237, 21174529, 9892703"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHO0RP02"	"2023-11-30"
"GENCC_000106-HGNC_10012-OMIM_136880-HP_0000005-GENCC_100004"	"HGNC:10012"	"RHO"	"MONDO:0007639"	"fundus albipunctatus"	"OMIM:136880"	"Fundus albipunctatus"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10012"	"RHO"	"OMIM:136880"	"fundus albipunctatus"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-07-05 12:07:55"	""	""	"8554077"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RHO0RetPunctAlb"	"2023-11-30"
"GENCC_000106-HGNC_17282-OMIM_603649-HP_0000006-GENCC_100002"	"HGNC:17282"	"RIMS1"	"MONDO:0011355"	"cone-rod dystrophy 7"	"OMIM:603649"	"Cone-rod dystrophy 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17282"	"RIMS1"	"OMIM:603649"	"cone-rod dystrophy 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 12:29:45"	""	""	"11797009, 11797010, 12659814, 15066271, 18690027, 23591405, 25445212, 25961944, 27176872, 27788217, 28677725, 29555955, 31980526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RIMS10ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_17283-OMIM_618970-HP_0000007-GENCC_100002"	"HGNC:17283"	"RIMS2"	"MONDO:0033543"	"cone-rod synaptic disorder syndrome, congenital nonprogressive"	"OMIM:618970"	"Cone-rod synaptic disorder syndrome, congenital nonprogressive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17283"	"RIMS2"	"OMIM:618970"	"cone-rod synaptic disorder syndrome, congenital nonprogressive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:24"	""	""	"32470375"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RIMS20ConeRodSynap"	"2023-11-30"
"GENCC_000106-HGNC_21876-OMIM_618641-HP_0000007-GENCC_100002"	"HGNC:21876"	"RINT1"	"MONDO:0032844"	"infantile liver failure syndrome 3"	"OMIM:618641"	"Infantile liver failure syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21876"	"RINT1"	"OMIM:618641"	"infantile liver failure syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-26 14:09:21"	""	""	"31204009, 37463447"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RINT10RALF"	"2023-11-30"
"GENCC_000106-HGNC_1750-OMIM_619736-HP_0000006-GENCC_100002"	"HGNC:1750"	"CDH11"	"MONDO:0030674"	"Teebi hypertelorism syndrome 2"	"OMIM:619736"	"Teebi hypertelorism syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1750"	"CDH11"	"OMIM:619736"	"Teebi hypertelorism syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-11 16:47:15"	""	""	"33811546"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDH110TeebiHypertel"	"2023-11-30"
"GENCC_000106-HGNC_10019-OMIM_618852-HP_0000006-GENCC_100002"	"HGNC:10019"	"RIPK1"	"MONDO:0030018"	"autoinflammation with episodic fever and lymphadenopathy"	"OMIM:618852"	"Autoinflammation with episodic fever and lymphadenopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10019"	"RIPK1"	"OMIM:618852"	"Autoinflammation with episodic fever and lymphadenopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-28 06:56:18"	""	""	"31827280, 31827281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RIPK10AIEFL"	"2023-11-30"
"GENCC_000106-HGNC_10019-OMIM_618108-HP_0000007-GENCC_100002"	"HGNC:10019"	"RIPK1"	"MONDO:0020849"	"immunodeficiency 57"	"OMIM:618108"	"Immunodeficiency 57 with autoinflammation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10019"	"RIPK1"	"OMIM:618108"	"Immunodeficiency 57 with autoinflammation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-08 16:32:06"	""	""	"30026316, 30591564, 31213653"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RIPK10RIPK1def"	"2023-11-30"
"GENCC_000106-HGNC_21390-OMIM_616566-HP_0000005-GENCC_100004"	"HGNC:21390"	"RIPPLY2"	"MONDO:0014694"	"spondylocostal dysostosis 6, autosomal recessive"	"OMIM:616566"	"?Spondylocostal dysostosis 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21390"	"RIPPLY2"	"OMIM:616566"	"spondylocostal dysostosis 6, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-01-28 19:36:15"	""	""	"17360776, 17531978, 25343988, 26238661, 30420309, 33410135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RIPPLY20Spondylocostal"	"2023-11-30"
"GENCC_000106-HGNC_10024-OMIM_607475-HP_0000007-GENCC_100002"	"HGNC:10024"	"RLBP1"	"MONDO:0011838"	"Bothnia retinal dystrophy"	"OMIM:607475"	"Bothnia retinal dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10024"	"RLBP1"	"OMIM:607475"	"Bothnia retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"10102298, 11301032, 11449319, 12536144, 19846785, 22171637, 25429852"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RLBP10BothniaRetDys"	"2023-11-30"
"GENCC_000106-HGNC_10024-OMIM_136880-HP_0000007-GENCC_100002"	"HGNC:10024"	"RLBP1"	"MONDO:0007639"	"fundus albipunctatus"	"OMIM:136880"	"Fundus albipunctatus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10024"	"RLBP1"	"OMIM:136880"	"fundus albipunctatus"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-14 11:17:46"	""	""	"11301032, 11453974, 21447491, 9326942"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RLBP10FundusAlbipunct"	"2023-11-30"
"GENCC_000106-HGNC_10024-OMIM_607476-HP_0000007-GENCC_100002"	"HGNC:10024"	"RLBP1"	"MONDO:0011839"	"Newfoundland cone-rod dystrophy"	"OMIM:607476"	"Newfoundland rod-cone dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10024"	"RLBP1"	"OMIM:607476"	"Newfoundland cone-rod dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"11301032, 11868161"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RLBP10RodConeDys"	"2023-11-30"
"GENCC_000106-HGNC_21176-OMIM_614922-HP_0000007-GENCC_100002"	"HGNC:21176"	"RMND1"	"MONDO:0013969"	"combined oxidative phosphorylation defect type 11"	"OMIM:614922"	"Combined oxidative phosphorylation deficiency 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21176"	"RMND1"	"OMIM:614922"	"combined oxidative phosphorylation defect type 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 19:10:27"	""	""	"25058219, 26395190, 27412952, 31506229"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RMND10OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_10031-OMIM_250250-HP_0000007-GENCC_100002"	"HGNC:10031"	"RMRP"	"MONDO:0009595"	"cartilage-hair hypoplasia"	"OMIM:250250"	"Cartilage-hair hypoplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10031"	"RMRP"	"OMIM:250250"	"cartilage-hair hypoplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-18 17:20:17"	""	""	"11152140, 16838329, 21204224, 250250"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RMRP0CHH0ADDspect"	"2023-11-30"
"GENCC_000106-HGNC_25671-OMIM_610181-HP_0000007-GENCC_100002"	"HGNC:25671"	"RNASEH2B"	"MONDO:0012429"	"Aicardi-Goutieres syndrome 2"	"OMIM:610181"	"Aicardi-Goutieres syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25671"	"RNASEH2B"	"OMIM:610181"	"Aicardi-Goutieres syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 22:10:29"	""	""	"16845400, 17846997, 22802351, 4432164"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNASEH2B0AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_10050-OMIM_601518-HP_0000006-GENCC_100004"	"HGNC:10050"	"RNASEL"	"MONDO:0011098"	"prostate cancer, hereditary, 1"	"OMIM:601518"	"Prostate cancer 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10050"	"RNASEL"	"OMIM:601518"	"prostate cancer, hereditary, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-08-23 12:49:50"	""	""	"11799394, 12145743, 12624150, 16537704, 24891332, 29422015"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNASEL0Prostate"	"2023-11-30"
"GENCC_000106-HGNC_12974-OMIM_300953-HP_0001417-GENCC_100002"	"HGNC:12974"	"RNF113A"	"MONDO:0010495"	"trichothiodystrophy 5, nonphotosensitive"	"OMIM:300953"	"Trichothiodystrophy 5, nonphotosensitive"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12974"	"RNF113A"	"OMIM:300953"	"trichothiodystrophy 5, nonphotosensitive"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 23:46:23"	""	""	"25612912, 31793730, 31880405"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF113A0TTD"	"2023-11-30"
"GENCC_000106-HGNC_21150-OMIM_616260-HP_0000006-GENCC_100002"	"HGNC:21150"	"RNF125"	"MONDO:0014553"	"Tenorio syndrome"	"OMIM:616260"	"Tenorio syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21150"	"RNF125"	"OMIM:616260"	"Tenorio syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"25196541, 34196401"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF1250Tenorio"	"2023-11-30"
"GENCC_000106-HGNC_10057-OMIM_618379-HP_0000006-GENCC_100002"	"HGNC:10057"	"RNF13"	"MONDO:0034106"	"developmental and epileptic encephalopathy, 73"	"OMIM:618379"	"Developmental and epileptic encephalopathy 73"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10057"	"RNF13"	"OMIM:618379"	"developmental and epileptic encephalopathy, 73"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-06 13:44:32"	""	""	"30595371, 37668308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF130EIEE"	"2023-11-30"
"GENCC_000106-HGNC_21158-OMIM_614192-HP_0000006-GENCC_100004"	"HGNC:21158"	"RNF135"	"MONDO:0013617"	"overgrowth-macrocephaly-facial dysmorphism syndrome"	"OMIM:614192"	"OMIM:614192"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:21158"	"RNF135"	"OMIM:614192"	"overgrowth-macrocephaly-facial dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"17632510, 21147464, 28776093, 30665703, 31703719, 32939436"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF1350Macrocep04"	"2023-11-30"
"GENCC_000106-HGNC_25358-OMIM_608984-HP_0000006-GENCC_100002"	"HGNC:25358"	"RNF170"	"MONDO:0012166"	"autosomal dominant sensory ataxia 1"	"OMIM:608984"	"Ataxia, sensory, 1, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25358"	"RNF170"	"OMIM:608984"	"Ataxia, sensory, 1, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:27:39"	""	""	"21115467, 25882839, 26433933, 32943585"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF1700Ataxia,S"	"2023-11-30"
"GENCC_000106-HGNC_25358-OMIM_619686-HP_0000007-GENCC_100002"	"HGNC:25358"	"RNF170"	"MONDO:0030512"	"spastic paraplegia 85, autosomal recessive"	"OMIM:619686"	"Spastic paraplegia 85, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25358"	"RNF170"	"OMIM:619686"	"Spastic paraplegia 85, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 14:52:22"	""	""	"26433933, 31636353, 33165979"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF1700SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_10061-OMIM_619460-HP_0000006-GENCC_100002"	"HGNC:10061"	"RNF2"	"MONDO:0859171"	"Luo-Schoch-Yamamoto syndrome"	"OMIM:619460"	"Luo-Schoch-Yamamoto syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10061"	"RNF2"	"OMIM:619460"	"Luo-Schoch-Yamamoto syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 08:05:33"	""	""	"33864376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_27729-OMIM_619673-HP_0000007-GENCC_100004"	"HGNC:27729"	"RNF212"	"MONDO:0030508"	"spermatogenic failure 62"	"OMIM:619673"	"?Spermatogenic failure 62"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27729"	"RNF212"	"OMIM:619673"	"?Spermatogenic failure 62"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-11 14:20:28"	""	""	"25342176, 31125047"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF2120Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_14539-OMIM_607151-HP_0000006-GENCC_100002"	"HGNC:14539"	"RNF213"	"MONDO:0011784"	"Moyamoya disease 2"	"OMIM:607151"	"{Moyamoya disease 2, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14539"	"RNF213"	"OMIM:607151"	"Moyamoya disease 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 04:10:33"	""	""	"21048783, 23850618, 23994138, 25278557"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF2130Moyamoya"	"2023-11-30"
"GENCC_000106-HGNC_14539-OMIM_607151-HP_0000007-GENCC_100002"	"HGNC:14539"	"RNF213"	"MONDO:0011784"	"Moyamoya disease 2"	"OMIM:607151"	"{Moyamoya disease 2, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14539"	"RNF213"	"OMIM:607151"	"Moyamoya disease 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 04:10:33"	""	""	"21048783, 22377813, 22931863"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF2130Moyamoya02"	"2023-11-30"
"GENCC_000106-HGNC_25552-OMIM_619688-HP_0000007-GENCC_100002"	"HGNC:25552"	"RNF220"	"MONDO:0030514"	"leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy"	"OMIM:619688"	"Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25552"	"RNF220"	"OMIM:619688"	"Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-27 12:53:43"	""	""	"33964137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF2200Laminopathy"	"2023-11-30"
"GENCC_000106-HGNC_18505-OMIM_617108-HP_0000006-GENCC_100004"	"HGNC:18505"	"RNF43"	"MONDO:0014919"	"sessile serrated polyposis cancer syndrome"	"OMIM:617108"	"Sessile serrated polyposis cancer syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18505"	"RNF43"	"OMIM:617108"	"sessile serrated polyposis cancer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 11:43:49"	""	""	"24512911, 27081527, 27329244, 27582512, 29213343, 29330307, 31243857, 33098683, 33806975, 34541672, 35128723"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNF430SessileS"	"2023-11-30"
"GENCC_000106-HGNC_18666-OMIM_618160-HP_0000007-GENCC_100002"	"HGNC:18666"	"RNPC3"	"MONDO:0032569"	"isolated growth hormone deficiency, type 5"	"OMIM:618160"	"Pituitary hormone deficiency, combined or isolated, 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18666"	"RNPC3"	"OMIM:618160"	"isolated growth hormone deficiency, type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-06 21:38:24"	""	""	"24480542, 29255062, 29866761, 30254136"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNPC30GHD"	"2023-11-30"
"GENCC_000106-HGNC_34016-OMIM_210710-HP_0000007-GENCC_100002"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0008871"	"microcephalic osteodysplastic primordial dwarfism type I"	"OMIM:210710"	"Microcephalic osteodysplastic primordial dwarfism, type I"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:34016"	"RNU4ATAC"	"OMIM:210710"	"microcephalic osteodysplastic primordial dwarfism type I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:04"	""	""	"21474760, 23794361, 26641461, 32628740"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNU4ATAC0MOPD1"	"2023-11-30"
"GENCC_000106-HGNC_34016-OMIM_616651-HP_0000007-GENCC_100002"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0014722"	"Roifman syndrome"	"OMIM:616651"	"Roifman syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:34016"	"RNU4ATAC"	"OMIM:616651"	"Roifman syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-08 12:32:37"	""	""	"26522830, 28623346, 29263834"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RNU4ATAC0RoifmanSynd"	"2023-11-30"
"GENCC_000106-HGNC_30348-OMIM_619742-HP_0000006-GENCC_100002"	"HGNC:30348"	"POLR3B"	"MONDO:0030677"	"Charcot-Marie-Tooth disease, demyelinating, IIA 1I"	"OMIM:619742"	"Charcot-Marie-Tooth disease, demyelinating, type 1I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30348"	"POLR3B"	"OMIM:619742"	"Charcot-Marie-Tooth disease, demyelinating, type 1I"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-18 14:20:07"	""	""	"33417887, 34666706, 35482004"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR3B0CMT1I"	"2023-11-30"
"GENCC_000106-HGNC_10249-OMIM_620305-HP_0000007-GENCC_100002"	"HGNC:10249"	"ROBO1"	"MONDO:0957210"	"neurooculorenal syndrome"	"OMIM:620305"	"Neurooculorenal syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10249"	"ROBO1"	"OMIM:620305"	"Neurooculorenal syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-17 19:21:29"	""	""	"26489027, 29194579, 35227688"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROBO10CAKUT"	"2023-11-30"
"GENCC_000106-HGNC_10249-OMIM_620303-HP_0000006-GENCC_100002"	"HGNC:10249"	"ROBO1"	"MONDO:0957208"	"pituitary hormone deficiency, combined or isolated, 8"	"OMIM:620303"	"Pituitary hormone deficiency, combined or isolated, 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10249"	"ROBO1"	"OMIM:620303"	"Pituitary hormone deficiency, combined or isolated, 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-17 19:19:57"	""	""	"16690755, 28286008, 28402530, 30692597, 31448886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROBO10Pituitary stalk"	"2023-11-30"
"GENCC_000106-HGNC_10250-OMIM_610878-HP_0000006-GENCC_100002"	"HGNC:10250"	"ROBO2"	"MONDO:0012573"	"vesicoureteral reflux 2"	"OMIM:610878"	"Vesicoureteral reflux 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10250"	"ROBO2"	"OMIM:610878"	"vesicoureteral reflux 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:35"	""	""	"15130495, 17357069, 18235093, 24429398, 26408188, 29204651"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROBO20CAKUT"	"2023-11-30"
"GENCC_000106-HGNC_13433-OMIM_607313-HP_0000007-GENCC_100002"	"HGNC:13433"	"ROBO3"	"MONDO:0020790"	"gaze palsy, familial horizontal, with progressive scoliosis 1"	"OMIM:607313"	"Gaze palsy, familial horizontal, with progressive scoliosis, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13433"	"ROBO3"	"OMIM:607313"	"gaze palsy, familial horizontal, with progressive scoliosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 15:42:06"	""	""	"15105459, 16525029, 21850172, 23810770, 30985235"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROBO30GazePals"	"2023-11-30"
"GENCC_000106-HGNC_17985-OMIM_618496-HP_0000006-GENCC_100004"	"HGNC:17985"	"ROBO4"	"MONDO:0032783"	"aortic valve disease 3"	"OMIM:618496"	"Aortic valve disease 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17985"	"ROBO4"	"OMIM:618496"	"aortic valve disease 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-07-16 08:36:47"	""	""	"30455415"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROBO40CHD"	"2023-11-30"
"GENCC_000106-HGNC_10254-OMIM_608133-HP_0000005-GENCC_100004"	"HGNC:10254"	"ROM1"	"MONDO:0011974"	"retinitis pigmentosa 7"	"OMIM:608133"	"Retinitis pigmentosa 7, digenic form"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10254"	"ROM1"	"OMIM:608133"	"retinitis pigmentosa 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-29 08:52:25"	""	""	"30630813, 30910914, 31054281, 32036094, 32141364, 8202715, 8595413, 9331261"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROM10RP"	"2023-11-30"
"GENCC_000106-HGNC_10256-OMIM_617654-HP_0000005-GENCC_100004"	"HGNC:10256"	"ROR1"	"MONDO:0033200"	"hearing loss, autosomal recessive 108"	"OMIM:617654"	"?Deafness, autosomal recessive 108"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10256"	"ROR1"	"OMIM:617654"	"hearing loss, autosomal recessive 108"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:03"	""	""	"27162350"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROR10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_10257-OMIM_113000-HP_0000006-GENCC_100002"	"HGNC:10257"	"ROR2"	"MONDO:0007220"	"brachydactyly type B1"	"OMIM:113000"	"Brachydactyly, type B1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10257"	"ROR2"	"OMIM:113000"	"brachydactyly type B1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:35"	""	""	"10700182, 10986040, 12815588, 19461659, 19640924, 24300509"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROR20Brachydactyly"	"2023-11-30"
"GENCC_000106-HGNC_10257-OMIM_268310-HP_0000007-GENCC_100002"	"HGNC:10257"	"ROR2"	"MONDO:0009999"	"autosomal recessive Robinow syndrome"	"OMIM:268310"	"Robinow syndrome, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10257"	"ROR2"	"OMIM:268310"	"autosomal recessive Robinow syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 07:58:58"	""	""	"10651906, 10700181, 10932186, 15952209, 19640924, 282774, 28680597, 31680123"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ROR20Robinow"	"2023-11-30"
"GENCC_000106-HGNC_10258-OMIM_618060-HP_0000006-GENCC_100002"	"HGNC:10258"	"RORA"	"MONDO:0060745"	"intellectual developmental disorder with or without epilepsy or cerebellar ataxia"	"OMIM:618060"	"Intellectual developmental disorder with or without epilepsy or cerebellar ataxia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10258"	"RORA"	"OMIM:618060"	"intellectual developmental disorder with or without epilepsy or cerebellar ataxia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-01 19:07:15"	""	""	"28708303, 29656859"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RORA0Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_10259-OMIM_618357-HP_0000006-GENCC_100002"	"HGNC:10259"	"RORB"	"MONDO:0032699"	"epilepsy, idiopathic generalized, susceptibility to, 15"	"OMIM:618357"	"{Epilepsy, idiopathic generalized, susceptibility to, 15}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10259"	"RORB"	"OMIM:618357"	"epilepsy, idiopathic generalized, susceptibility to, 15"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 09:32:22"	""	""	"23279911, 24355400, 27352968, 30866059"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RORB0Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_10260-OMIM_616622-HP_0000007-GENCC_100002"	"HGNC:10260"	"RORC"	"MONDO:0014710"	"autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"	"OMIM:616622"	"Immunodeficiency 42"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10260"	"RORC"	"OMIM:616622"	"autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"26160376, 33732252, 9881970"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RORC0Candidiasis"	"2023-11-30"
"GENCC_000106-HGNC_10263-OMIM_180100-HP_0000006-GENCC_100002"	"HGNC:10263"	"RP1"	"MONDO:0008377"	"retinitis pigmentosa 1"	"OMIM:180100"	"Retinitis pigmentosa 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10263"	"RP1"	"OMIM:180100"	"retinitis pigmentosa 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-18 20:35:41"	""	""	"10391211, 10391212, 10484783, 11527933, 19933189"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RP10RP"	"2023-11-30"
"GENCC_000106-HGNC_10263-OMIM_180100-HP_0000007-GENCC_100002"	"HGNC:10263"	"RP1"	"MONDO:0008377"	"retinitis pigmentosa 1"	"OMIM:180100"	"Retinitis pigmentosa 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10263"	"RP1"	"OMIM:180100"	"retinitis pigmentosa 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-18 20:35:41"	""	""	"11960024, 15863674, 19933189, 25356976, 26306921"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RP10RP02"	"2023-11-30"
"GENCC_000106-HGNC_15946-OMIM_613587-HP_0000006-GENCC_100002"	"HGNC:15946"	"RP1L1"	"MONDO:0013316"	"occult macular dystrophy"	"OMIM:613587"	"Occult macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15946"	"RP1L1"	"OMIM:613587"	"occult macular dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:35"	""	""	"19657028, 20826268, 23281133, 23619761, 25908487, 26782618, 27623337, 29196766, 30025130"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RP1L10MacularDys"	"2023-11-30"
"GENCC_000106-HGNC_15946-OMIM_618826-HP_0000007-GENCC_100002"	"HGNC:15946"	"RP1L1"	"MONDO:0032940"	"retinitis pigmentosa 88"	"OMIM:618826"	"Retinitis pigmentosa 88"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15946"	"RP1L1"	"OMIM:618826"	"retinitis pigmentosa 88"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:25"	""	""	"19657028, 23281133, 25324289, 29343940, 29785639, 30025130"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RP1L10RP"	"2023-11-30"
"GENCC_000106-HGNC_10288-OMIM_180104-HP_0000005-GENCC_100004"	"HGNC:10288"	"RP9"	"MONDO:0008378"	"retinitis pigmentosa 9"	"OMIM:180104"	"?Retinitis pigmentosa 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10288"	"RP9"	"OMIM:180104"	"retinitis pigmentosa 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-09 10:49:28"	""	""	"12032732, 15474994, 16799052, 23591405, 29785639, 32100970"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RP90RP"	"2023-11-30"
"GENCC_000106-HGNC_9200-OMIM_619743-HP_0000007-GENCC_100002"	"HGNC:9200"	"POLRMT"	"MONDO:0859228"	"combined oxidative phosphorylation deficiency 55"	"OMIM:619743"	"Combined oxidative phosphorylation deficiency 55"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9200"	"POLRMT"	"OMIM:619743"	"Combined oxidative phosphorylation deficiency 55"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-22 11:10:41"	""	""	"30315573, 33602924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLRMT0POLRMTrel"	"2023-11-30"
"GENCC_000106-HGNC_10294-OMIM_204100-HP_0000007-GENCC_100002"	"HGNC:10294"	"RPE65"	"MONDO:0008765"	"Leber congenital amaurosis 2"	"OMIM:204100"	"Leber congenital amaurosis 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10294"	"RPE65"	"OMIM:204100"	"Leber congenital amaurosis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 17:57:42"	""	""	"16123401, 18055820, 18632300, 20006823, 9326941, 9501220"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPE650Leber"	"2023-11-30"
"GENCC_000106-HGNC_10294-OMIM_613794-HP_0000007-GENCC_100002"	"HGNC:10294"	"RPE65"	"MONDO:0013425"	"retinitis pigmentosa 20"	"OMIM:613794"	"Retinitis pigmentosa 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10294"	"RPE65"	"OMIM:613794"	"Retinitis pigmentosa 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 01:57:54"	""	""	"16754667, 19431183, 25356976, 25752820, 29068479, 9326941, 9501220, 9843205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPE650RP"	"2023-11-30"
"GENCC_000106-HGNC_9200-OMIM_619743-HP_0000006-GENCC_100004"	"HGNC:9200"	"POLRMT"	"MONDO:0859228"	"combined oxidative phosphorylation deficiency 55"	"OMIM:619743"	"Combined oxidative phosphorylation deficiency 55"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9200"	"POLRMT"	"OMIM:619743"	"Combined oxidative phosphorylation deficiency 55"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-02-22 11:10:41"	""	""	"25363768, 33602924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLRMT0POLRMTrel02"	"2023-11-30"
"GENCC_000106-HGNC_10295-OMIM_300029-HP_0001417-GENCC_100002"	"HGNC:10295"	"RPGR"	"MONDO:0010227"	"retinitis pigmentosa 3"	"OMIM:300029"	"Retinitis pigmentosa 3"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10295"	"RPGR"	"OMIM:300029"	"retinitis pigmentosa 3"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 18:46:10"	""	""	"10932196, 11950860, 14564670, 16969763, 21857984, 23150612, 23372056, 2357515, 30105367, 7611300, 7977377, 9350809"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPGR0RP"	"2023-11-30"
"GENCC_000106-HGNC_13436-OMIM_613826-HP_0000007-GENCC_100002"	"HGNC:13436"	"RPGRIP1"	"MONDO:0013446"	"Leber congenital amaurosis 6"	"OMIM:613826"	"Leber congenital amaurosis 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13436"	"RPGRIP1"	"OMIM:613826"	"Leber congenital amaurosis 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-04 16:18:33"	""	""	"11528500, 23105016"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPGRIP10Leber"	"2023-11-30"
"GENCC_000106-HGNC_941-OMIM_619747-HP_0000007-GENCC_100002"	"HGNC:941"	"BAG5"	"MONDO:0030680"	"cardiomyopathy, dilated, 2F"	"OMIM:619747"	"Cardiomyopathy, dilated, 2F"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:941"	"BAG5"	"OMIM:619747"	"Cardiomyopathy, dilated, 2F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-22 11:12:28"	""	""	"35044787"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BAG50DCM"	"2023-11-30"
"GENCC_000106-HGNC_10297-OMIM_608611-HP_0000007-GENCC_100002"	"HGNC:10297"	"RPIA"	"MONDO:0012073"	"ribose-5-P isomerase deficiency"	"OMIM:608611"	"Ribose 5-phosphate isomerase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10297"	"RPIA"	"OMIM:608611"	"ribose-5-P isomerase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"14988808, 20499043, 28801340, 30088433"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPIA0?Ribose5"	"2023-11-30"
"GENCC_000106-HGNC_10298-OMIM_300847-HP_0000005-GENCC_100004"	"HGNC:10298"	"RPL10"	"MONDO:0010449"	"autism, susceptibility to, X-linked 5"	"OMIM:300847"	"{Autism, susceptibility to, X-linked 5}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10298"	"RPL10"	"OMIM:300847"	"autism, susceptibility to, X-linked 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:07"	""	""	"16940977"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL100ASD"	"2023-11-30"
"GENCC_000106-HGNC_10298-OMIM_300998-HP_0001417-GENCC_100002"	"HGNC:10298"	"RPL10"	"MONDO:0030908"	"intellectual disability, X-linked, syndromic, 35"	"OMIM:300998"	"Intellectual developmental disorder, X-linked syndromic 35"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10298"	"RPL10"	"OMIM:300998"	"intellectual disability, X-linked, syndromic, 35"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 14:23:35"	""	""	"25316788, 25846674, 26290468, 29066376"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL100RPL10rel"	"2023-11-30"
"GENCC_000106-HGNC_13998-OMIM_619761-HP_0000005-GENCC_100004"	"HGNC:13998"	"PRDM13"	"MONDO:0859229"	"cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism"	"OMIM:619761"	"Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13998"	"PRDM13"	"OMIM:619761"	"Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-02-28 16:35:59"	""	""	"29878067"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDM130ARCAT"	"2023-11-30"
"GENCC_000106-HGNC_10303-OMIM_618728-HP_0000006-GENCC_100002"	"HGNC:10303"	"RPL13"	"MONDO:0032885"	"spondyloepimetaphyseal dysplasia, Isidor-Toutain type"	"OMIM:618728"	"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10303"	"RPL13"	"OMIM:618728"	"spondyloepimetaphyseal dysplasia, Isidor-Toutain type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 17:58:19"	""	""	"31630789, 32916022, 37121912"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL130SEMDys"	"2023-11-30"
"GENCC_000106-HGNC_10310-OMIM_618310-HP_0000005-GENCC_100004"	"HGNC:10310"	"RPL18"	"MONDO:0032668"	"Diamond-Blackfan anemia 18"	"OMIM:618310"	"?Diamond-Blackfan anemia 18"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10310"	"RPL18"	"OMIM:618310"	"Diamond-Blackfan anemia 18"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-03-15 14:33:43"	""	""	"28280134"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL180RPL18rel"	"2023-11-30"
"GENCC_000106-HGNC_3602-OMIM_619764-HP_0000006-GENCC_100002"	"HGNC:3602"	"FBLN5"	"MONDO:0030689"	"Charcot-Marie-Tooth disease, demyelinating, IIA 1H"	"OMIM:619764"	"Charcot-Marie-Tooth disease, demyelinating, type 1H"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3602"	"FBLN5"	"OMIM:619764"	"Charcot-Marie-Tooth disease, demyelinating, type 1H"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-21 10:36:24"	""	""	"21576112, 23328402, 28332470"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBLN50CMT"	"2023-11-30"
"GENCC_000106-HGNC_10328-OMIM_617408-HP_0000005-GENCC_100004"	"HGNC:10328"	"RPL27"	"MONDO:0044309"	"Diamond-Blackfan anemia 16"	"OMIM:617408"	"?Diamond-Blackfan anemia 16"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10328"	"RPL27"	"OMIM:617408"	"Diamond-Blackfan anemia 16"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-03-15 14:25:14"	""	""	"25424902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL270DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10344-OMIM_618312-HP_0000005-GENCC_100004"	"HGNC:10344"	"RPL35"	"MONDO:0032669"	"Diamond-Blackfan anemia 19"	"OMIM:618312"	"?Diamond-Blackfan anemia 19"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10344"	"RPL35"	"OMIM:618312"	"Diamond-Blackfan anemia 19"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-03-15 14:32:52"	""	""	"28280134, 31855845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPL350DBA"	"2023-11-30"
"GENCC_000106-HGNC_10289-OMIM_619767-HP_0000006-GENCC_100002"	"HGNC:10289"	"RPA1"	"MONDO:0030690"	"pulmonary fibrosis and/or bone marrow failure, telomere-related, 6"	"OMIM:619767"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10289"	"RPA1"	"OMIM:619767"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-07 12:09:19"	""	""	"34767620"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPA10TelomereBioDs"	"2023-11-30"
"GENCC_000106-HGNC_10389-OMIM_618313-HP_0000005-GENCC_100004"	"HGNC:10389"	"RPS15A"	"MONDO:0032670"	"Diamond-Blackfan anemia 20"	"OMIM:618313"	"?Diamond-Blackfan anemia 20"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10389"	"RPS15A"	"OMIM:618313"	"Diamond-Blackfan anemia 20"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-03-15 14:33:25"	""	""	"27909223, 30078807"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS15A0DBA"	"2023-11-30"
"GENCC_000106-HGNC_10397-OMIM_612527-HP_0000006-GENCC_100002"	"HGNC:10397"	"RPS17"	"MONDO:0012924"	"Diamond-Blackfan anemia 4"	"OMIM:612527"	"Diamond-Blackfan anemia 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10397"	"RPS17"	"OMIM:612527"	"Diamond-Blackfan anemia 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-12-18 08:52:00"	""	""	"17647292, 19061985, 19953637, 20378560, 22045982, 22262766, 22689679, 23718193, 23812780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS170DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10402-OMIM_105650-HP_0000006-GENCC_100002"	"HGNC:10402"	"RPS19"	"MONDO:0007110"	"Diamond-Blackfan anemia 1"	"OMIM:105650"	"Diamond-Blackfan anemia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10402"	"RPS19"	"OMIM:105650"	"Diamond-Blackfan anemia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 10:43:48"	""	""	"20960466, 603474"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS190DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10410-OMIM_617412-HP_0000005-GENCC_100004"	"HGNC:10410"	"RPS23"	"MONDO:0044311"	"brachycephaly, trichomegaly, and developmental delay"	"OMIM:617412"	"Brachycephaly, trichomegaly, and developmental delay"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10410"	"RPS23"	"OMIM:617412"	"Brachycephaly, trichomegaly, and developmental delay"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-12-07 15:01:26"	""	""	"26982655, 28257692"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS230RPS23rel"	"2023-11-30"
"GENCC_000106-HGNC_10416-OMIM_617409-HP_0000005-GENCC_100004"	"HGNC:10416"	"RPS27"	"MONDO:0044310"	"Diamond-Blackfan anemia 17"	"OMIM:617409"	"?Diamond-Blackfan anemia 17"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10416"	"RPS27"	"OMIM:617409"	"Diamond-Blackfan anemia 17"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-06-12 13:12:38"	""	""	"25424902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS270DBAnemia"	"2023-11-30"
"GENCC_000106-HGNC_10418-OMIM_606164-HP_0000006-GENCC_100004"	"HGNC:10418"	"RPS28"	"MONDO:0011639"	"Diamond-Blackfan anemia 15 with mandibulofacial dysostosis"	"OMIM:606164"	"Diamond Blackfan anemia 15 with mandibulofacial dysostosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10418"	"RPS28"	"OMIM:606164"	"Diamond-Blackfan anemia 15 with mandibulofacial dysostosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"24942156"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS280DiamondB"	"2023-11-30"
"GENCC_000106-HGNC_10419-OMIM_615909-HP_0000006-GENCC_100002"	"HGNC:10419"	"RPS29"	"MONDO:0014394"	"Diamond-Blackfan anemia 13"	"OMIM:615909"	"Diamond-Blackfan anemia 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10419"	"RPS29"	"OMIM:615909"	"Diamond-Blackfan anemia 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-08-01 08:19:12"	""	""	"24829207, 26136524, 29797310, 31618753, 33718801"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS290Diamond-"	"2023-11-30"
"GENCC_000106-HGNC_10432-OMIM_303600-HP_0001417-GENCC_100002"	"HGNC:10432"	"RPS6KA3"	"MONDO:0010561"	"Coffin-Lowry syndrome"	"OMIM:303600"	"Coffin-Lowry syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10432"	"RPS6KA3"	"OMIM:303600"	"Coffin-Lowry syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:59:43"	""	""	"12210291, 15668050, 19888300, 20637903, 29245289, 9837815"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPS6KA30CoffinLowry"	"2023-11-30"
"GENCC_000106-HGNC_6598-OMIM_619774-HP_0000007-GENCC_100002"	"HGNC:6598"	"LIG1"	"MONDO:0030693"	"immunodeficiency 96"	"OMIM:619774"	"Immunodeficiency 96"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6598"	"LIG1"	"OMIM:619774"	"Immunodeficiency 96"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 12:35:57"	""	""	"1351188, 1581963, 19223467, 30395541, 31681716"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIG10DNAligaseIdef"	"2023-11-30"
"GENCC_000106-HGNC_6502-OMIM_271400-HP_0000006-GENCC_100002"	"HGNC:6502"	"RPSA"	"MONDO:0010066"	"familial isolated congenital asplenia"	"OMIM:271400"	"Asplenia, isolated congenital"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6502"	"RPSA"	"OMIM:271400"	"Asplenia, isolated congenital"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 12:48:29"	""	""	"23579497, 25985138, 30072435"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RPSA0Asplenia"	"2023-11-30"
"GENCC_000106-HGNC_6600-OMIM_619780-HP_0000007-GENCC_100002"	"HGNC:6600"	"LIG3"	"MONDO:0030696"	"mitochondrial DNA depletion syndrome 20 (mngie type)"	"OMIM:619780"	"Mitochondrial DNA depletion syndrome 20 (MNGIE type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6600"	"LIG3"	"OMIM:619780"	"Mitochondrial DNA depletion syndrome 20 (MNGIE type)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-15 13:44:48"	""	""	"32107856, 33855352"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LIG30LIG3rel"	"2023-11-30"
"GENCC_000106-HGNC_17271-OMIM_618624-HP_0000006-GENCC_100002"	"HGNC:17271"	"RRAS2"	"MONDO:0032839"	"noonan syndrome 12"	"OMIM:618624"	"Noonan syndrome 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17271"	"RRAS2"	"OMIM:618624"	"noonan syndrome 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 16:35:10"	""	""	"31130282, 31130285"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RRAS20Noonan"	"2023-11-30"
"GENCC_000106-HGNC_17296-OMIM_612075-HP_0000007-GENCC_100002"	"HGNC:17296"	"RRM2B"	"MONDO:0012792"	"mitochondrial DNA depletion syndrome 8a"	"OMIM:612075"	"Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17296"	"RRM2B"	"OMIM:612075"	"Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 20:50:18"	""	""	"12858174, 12859174, 17486094, 18504129, 8130196"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RRM2B0MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_17296-OMIM_613077-HP_0000006-GENCC_100002"	"HGNC:17296"	"RRM2B"	"MONDO:0013117"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5"	"OMIM:613077"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17296"	"RRM2B"	"OMIM:613077"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:35"	""	""	"14729598, 19664747, 21646632, 23107649, 8254617"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RRM2B0PEO"	"2023-11-30"
"GENCC_000106-HGNC_14063-OMIM_619797-HP_0000006-GENCC_100002"	"HGNC:14063"	"HDAC4"	"MONDO:0859232"	"neurodevelopmental disorder with central hypotonia and dysmorphic facies"	"OMIM:619797"	"Neurodevelopmental disorder with central hypotonia and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14063"	"HDAC4"	"OMIM:619797"	"Neurodevelopmental disorder with central hypotonia and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 08:45:03"	""	""	"33537682"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HDAC40ID"	"2023-11-30"
"GENCC_000106-HGNC_10457-OMIM_312700-HP_0001417-GENCC_100002"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked retinoschisis"	"OMIM:312700"	"Retinoschisis"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:10457"	"RS1"	"OMIM:312700"	"X-linked retinoschisis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:23:41"	""	""	"10234514, 10415464, 15937075, 16884758, 17172462, 9618178"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RS10Retinoschisis"	"2023-11-30"
"GENCC_000106-HGNC_28583-OMIM_618021-HP_0000007-GENCC_100002"	"HGNC:28583"	"RSPO2"	"MONDO:0060732"	"tetraamelia syndrome 2"	"OMIM:618021"	"Tetraamelia syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28583"	"RSPO2"	"OMIM:618021"	"Tetraamelia syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:10"	""	""	"3515625, 19233133, 29769720"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSPO20TetraAmelia"	"2023-11-30"
"GENCC_000106-HGNC_24152-OMIM_618402-HP_0000007-GENCC_100002"	"HGNC:24152"	"RSRC1"	"MONDO:0032729"	"intellectual developmental disorder, autosomal recessive 70"	"OMIM:618402"	"Intellectual developmental disorder, autosomal recessive 70"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24152"	"RSRC1"	"OMIM:618402"	"intellectual developmental disorder, autosomal recessive 70"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:52:46"	""	""	"28640246, 29522154, 29843777, 32227164, 399829"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RSRC10RSRC1rel"	"2023-11-30"
"GENCC_000106-HGNC_15888-OMIM_615190-HP_0000007-GENCC_100002"	"HGNC:15888"	"RTEL1"	"MONDO:0014076"	"dyskeratosis congenita, autosomal recessive 5"	"OMIM:615190"	"Dyskeratosis congenita, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15888"	"RTEL1"	"OMIM:615190"	"dyskeratosis congenita, autosomal recessive 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-31 18:30:46"	""	""	"19405848, 23329068, 23453664, 23959892"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RTEL10DKC"	"2023-11-30"
"GENCC_000106-HGNC_15888-OMIM_616373-HP_0000006-GENCC_100002"	"HGNC:15888"	"RTEL1"	"MONDO:0014613"	"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"	"OMIM:616373"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15888"	"RTEL1"	"OMIM:616373"	"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-22 13:52:19"	""	""	"25607374, 25848748, 26022962, 26232478, 26400640"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RTEL10PulmFibr"	"2023-11-30"
"GENCC_000106-HGNC_10472-OMIM_119600-HP_0000006-GENCC_100002"	"HGNC:10472"	"RUNX2"	"MONDO:0007340"	"cleidocranial dysplasia 1"	"OMIM:119600"	"Cleidocranial dysplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10472"	"RUNX2"	"OMIM:119600"	"cleidocranial dysplasia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:43:56"	""	""	"10521292, 10545612, 11857736, 20648631, 9182764"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RUNX20Cleidocrandys"	"2023-11-30"
"GENCC_000106-HGNC_10472-OMIM_156510-HP_0000006-GENCC_100002"	"HGNC:10472"	"RUNX2"	"MONDO:0007984"	"metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"	"OMIM:156510"	"Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10472"	"RUNX2"	"OMIM:156510"	"metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-09-09 10:05:10"	""	""	"16838304, 20683987, 23290074, 23348268, 25311905, 29891876"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RUNX20MetaphysealDys"	"2023-11-30"
"GENCC_000106-HGNC_10483-OMIM_117000-HP_0000006-GENCC_100002"	"HGNC:10483"	"RYR1"	"MONDO:0007294"	"central core myopathy"	"OMIM:117000"	"Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10483"	"RYR1"	"OMIM:117000"	"central core myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 00:26:36"	""	""	"11709545, 12467748, 12565913, 16621918, 18313359, 20301565, 22473935, 23919265"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RYR10CM"	"2023-11-30"
"GENCC_000106-HGNC_10483-OMIM_145600-HP_0000006-GENCC_100002"	"HGNC:10483"	"RYR1"	"MONDO:0007783"	"malignant hyperthermia, susceptibility to, 1"	"OMIM:145600"	"{Malignant hyperthermia susceptibility 1}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10483"	"RYR1"	"OMIM:145600"	"malignant hyperthermia, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-19 23:15:52"	""	""	"10590402, 15731587, 16835904, 22822064, 23422674, 23459219, 27558158, 28687594"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RYR10MaligHypertherm"	"2023-11-30"
"GENCC_000106-HGNC_10483-OMIM_117000-HP_0000007-GENCC_100002"	"HGNC:10483"	"RYR1"	"MONDO:0007294"	"central core myopathy"	"OMIM:117000"	"Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10483"	"RYR1"	"OMIM:117000"	"central core myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 00:26:36"	""	""	"12937085, 20301467, 20583297, 20839240, 22473935, 23919265, 25960145, 27377473, 28818389, 29391587, 30406384, 30611313, 33190635, 35668205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RYR10RYRrelARCM"	"2023-11-30"
"GENCC_000106-HGNC_10484-OMIM_604772-HP_0000006-GENCC_100002"	"HGNC:10484"	"RYR2"	"MONDO:0011484"	"catecholaminergic polymorphic ventricular tachycardia 1"	"OMIM:604772"	"Ventricular tachycardia, catecholaminergic polymorphic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10484"	"RYR2"	"OMIM:604772"	"catecholaminergic polymorphic ventricular tachycardia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-30 04:50:44"	""	""	"21787999"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RYR20ArrhythCardiomy"	"2023-11-30"
"GENCC_000106-HGNC_30664-OMIM_619813-HP_0000006-GENCC_100002"	"HGNC:30664"	"CLPB"	"MONDO:0030726"	"neutropenia, severe congenital, 9, autosomal dominant"	"OMIM:619813"	"Neutropenia, severe congenital, 9, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30664"	"CLPB"	"OMIM:619813"	"Neutropenia, severe congenital, 9, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:45:22"	""	""	"34115842, 34140661"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CLPB0Neutro0syndrom"	"2023-11-30"
"GENCC_000106-HGNC_10519-OMIM_270550-HP_0000007-GENCC_100002"	"HGNC:10519"	"SACS"	"MONDO:0010041"	"Charlevoix-Saguenay spastic ataxia"	"OMIM:270550"	"Spastic ataxia, Charlevoix-Saguenay type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10519"	"SACS"	"OMIM:270550"	"Charlevoix-Saguenay spastic ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-01 02:37:35"	""	""	"18465152, 20876471"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SACS0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_10521-OMIM_258100-HP_0000007-GENCC_100002"	"HGNC:10521"	"SAG"	"MONDO:0009775"	"Oguchi disease-1"	"OMIM:258100"	"Oguchi disease-1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10521"	"SAG"	"OMIM:258100"	"Oguchi disease-1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 07:11:26"	""	""	"120464, 120684, 120724, 15234147, 22665972, 24265693, 258100, 613411, 7670478, 9452120"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAG0Oguchi"	"2023-11-30"
"GENCC_000106-HGNC_10521-OMIM_620228-HP_0000006-GENCC_100002"	"HGNC:10521"	"SAG"	"MONDO:0859367"	"retinitis pigmentosa 96"	"OMIM:620228"	"Retinitis pigmentosa 96, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10521"	"SAG"	"OMIM:620228"	"Retinitis pigmentosa 96, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 22:05:19"	""	""	"119608, 28549094, 29305604, 9501883, 9565049"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAG0RP"	"2023-11-30"
"GENCC_000106-HGNC_10524-OMIM_107480-HP_0000006-GENCC_100002"	"HGNC:10524"	"SALL1"	"MONDO:0054581"	"Townes-Brocks syndrome 1"	"OMIM:107480"	"Townes-Brocks branchiootorenal-like syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10524"	"SALL1"	"OMIM:107480"	"Townes-Brocks syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 21:22:32"	""	""	"11688560, 12915476, 14755477, 16088922, 17431915, 22308078, 23069192, 29395072, 9973281"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SALL10TownesBrock"	"2023-11-30"
"GENCC_000106-HGNC_10526-OMIM_216820-HP_0000005-GENCC_100004"	"HGNC:10526"	"SALL2"	"MONDO:0009002"	"coloboma, ocular, autosomal recessive"	"OMIM:216820"	"?Coloboma, ocular, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10526"	"SALL2"	"OMIM:216820"	"coloboma, ocular, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"24412933"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SALL20?Colobom"	"2023-11-30"
"GENCC_000106-HGNC_15924-OMIM_607323-HP_0000006-GENCC_100002"	"HGNC:15924"	"SALL4"	"MONDO:0011812"	"Duane-radial ray syndrome"	"OMIM:607323"	"Duane-radial ray syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15924"	"SALL4"	"OMIM:607323"	"Duane-radial ray syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-16 15:10:00"	""	""	"12393809, 12395297, 15342710, 16086360, 17256792, 23687435"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SALL40Duane"	"2023-11-30"
"GENCC_000106-HGNC_31750-OMIM_601068-HP_0000006-GENCC_100002"	"HGNC:31750"	"SAMD12"	"MONDO:0010985"	"epilepsy, familial adult myoclonic, 1"	"OMIM:601068"	"Epilepsy, familial adult myoclonic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:31750"	"SAMD12"	"OMIM:601068"	"Epilepsy, familial adult myoclonic, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-14 12:30:49"	""	""	"29507423, 29939203, 30194086, 32174879, 32973343, 33040085, 33791773"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAMD120FCMTE"	"2023-11-30"
"GENCC_000106-HGNC_1348-OMIM_619041-HP_0000005-GENCC_100004"	"HGNC:1348"	"SAMD9"	"MONDO:0030801"	"monosomy 7 myelodysplasia and leukemia syndrome 2"	"OMIM:619041"	"Monosomy 7 myelodysplasia and leukemia syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1348"	"SAMD9"	"OMIM:619041"	"monosomy 7 myelodysplasia and leukemia syndrome 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-12 22:54:49"	""	""	"28487541, 34621053, 37160314"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAMD90MMLS"	"2023-11-30"
"GENCC_000106-HGNC_1348-OMIM_617053-HP_0000006-GENCC_100002"	"HGNC:1348"	"SAMD9"	"MONDO:0014888"	"MIRAGE syndrome"	"OMIM:617053"	"MIRAGE syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1348"	"SAMD9"	"OMIM:617053"	"MIRAGE syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-02 21:50:56"	""	""	"27182967, 28346228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAMD90MirageSy"	"2023-11-30"
"GENCC_000106-HGNC_1348-OMIM_610455-HP_0000007-GENCC_100002"	"HGNC:1348"	"SAMD9"	"MONDO:0012502"	"normophosphatemic familial tumoral calcinosis"	"OMIM:610455"	"Tumoral calcinosis, familial, normophosphatemic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1348"	"SAMD9"	"OMIM:610455"	"normophosphatemic familial tumoral calcinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-19 17:35:59"	""	""	"16960814, 18094730"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAMD90TumoralC"	"2023-11-30"
"GENCC_000106-HGNC_15925-OMIM_612952-HP_0000007-GENCC_100002"	"HGNC:15925"	"SAMHD1"	"MONDO:0013059"	"Aicardi-Goutieres syndrome 5"	"OMIM:612952"	"Aicardi-Goutieres syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15925"	"SAMHD1"	"OMIM:612952"	"Aicardi-Goutieres syndrome 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"19525956, 22461318, 25604658"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SAMHD10AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_4584-OMIM_619814-HP_0000007-GENCC_100002"	"HGNC:4584"	"GRIN1"	"MONDO:0030727"	"developmental and epileptic encephalopathy 101"	"OMIM:619814"	"Developmental and epileptic encephalopathy 101"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4584"	"GRIN1"	"OMIM:619814"	"Developmental and epileptic encephalopathy 101"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-30 12:07:42"	""	""	"26350515, 27164704, 28051072, 34611970, 35393335"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GRIN10EIEE02"	"2023-11-30"
"GENCC_000106-HGNC_17697-OMIM_613845-HP_0000007-GENCC_100002"	"HGNC:17697"	"SARS2"	"MONDO:0013458"	"hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"	"OMIM:613845"	"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17697"	"SARS2"	"OMIM:613845"	"hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 19:14:36"	""	""	"21255763, 24034276"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SARS20HUPRAS"	"2023-11-30"
"GENCC_000106-HGNC_19182-OMIM_618373-HP_0000007-GENCC_100004"	"HGNC:19182"	"SASH1"	"MONDO:0018657"	"pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"	"OMIM:618373"	"?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19182"	"SASH1"	"OMIM:618373"	"pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-04-27 18:17:30"	""	""	"25315659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SASH10SASH1rel"	"2023-11-30"
"GENCC_000106-HGNC_25835-OMIM_619825-HP_0000006-GENCC_100002"	"HGNC:25835"	"THSD4"	"MONDO:0030731"	"aortic aneurysm, familial thoracic 12"	"OMIM:619825"	"Aortic aneurysm, familial thoracic 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25835"	"THSD4"	"OMIM:619825"	"Aortic aneurysm, familial thoracic 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-14 12:03:29"	""	""	"32855533"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THSD40TAAD"	"2023-11-30"
"GENCC_000106-HGNC_25403-OMIM_616402-HP_0000007-GENCC_100002"	"HGNC:25403"	"SASS6"	"MONDO:0014623"	"microcephaly 14, primary, autosomal recessive"	"OMIM:616402"	"Microcephaly 14, primary, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25403"	"SASS6"	"OMIM:616402"	"microcephaly 14, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-17 17:50:24"	""	""	"24951542, 29096039, 30639237"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SASS60?Microce03"	"2023-11-30"
"GENCC_000106-HGNC_10541-OMIM_619228-HP_0000006-GENCC_100002"	"HGNC:10541"	"SATB1"	"MONDO:0030988"	"developmental delay with dysmorphic facies and dental anomalies"	"OMIM:619228"	"Developmental delay with dysmorphic facies and dental anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10541"	"SATB1"	"OMIM:619228"	"Developmental delay with dysmorphic facies and dental anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 12:46:38"	""	""	"33513338"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SATB10SATB1rel"	"2023-11-30"
"GENCC_000106-HGNC_19440-OMIM_260400-HP_0000007-GENCC_100002"	"HGNC:19440"	"SBDS"	"MONDO:0044204"	"Shwachman-Diamond syndrome 1"	"OMIM:260400"	"Shwachman-Diamond syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19440"	"SBDS"	"OMIM:260400"	"Shwachman-Diamond syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 20:02:41"	""	""	"12496757, 21660439, 23351992, 260400"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SBDS0SDS"	"2023-11-30"
"GENCC_000106-HGNC_10542-OMIM_615284-HP_0000007-GENCC_100002"	"HGNC:10542"	"SBF1"	"MONDO:0014117"	"Charcot-Marie-Tooth disease type 4B3"	"OMIM:615284"	"Charcot-Marie-Tooth disease, type 4B3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10542"	"SBF1"	"OMIM:615284"	"Charcot-Marie-Tooth disease type 4B3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-18 07:22:49"	""	""	"11994405, 21210780, 23749797, 24799518, 28005197, 28902413"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SBF10CMT"	"2023-11-30"
"GENCC_000106-HGNC_2135-OMIM_604563-HP_0000007-GENCC_100002"	"HGNC:2135"	"SBF2"	"MONDO:0011475"	"Charcot-Marie-Tooth disease type 4B2"	"OMIM:604563"	"Charcot-Marie-Tooth disease, type 4B2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2135"	"SBF2"	"OMIM:604563"	"Charcot-Marie-Tooth disease type 4B2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:58"	""	""	"12687498, 17855448, 25873783"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SBF20CMT"	"2023-11-30"
"GENCC_000106-HGNC_13081-OMIM_618195-HP_0000007-GENCC_100002"	"HGNC:13081"	"SCAPER"	"MONDO:0032594"	"intellectual developmental disorder and retinitis pigmentosa; IDDRP"	"OMIM:618195"	"Intellectual developmental disorder and retinitis pigmentosa"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13081"	"SCAPER"	"OMIM:618195"	"intellectual developmental disorder and retinitis pigmentosa; IDDRP"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-16 08:23:14"	""	""	"28794130"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCAPER0SCAPERrel"	"2023-11-30"
"GENCC_000106-HGNC_18869-OMIM_619826-HP_0000007-GENCC_100004"	"HGNC:18869"	"GGN"	"MONDO:0030732"	"spermatogenic failure 69"	"OMIM:619826"	"Spermatogenic failure 69"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18869"	"GGN"	"OMIM:619826"	"Spermatogenic failure 69"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-14 12:10:04"	""	""	"31985809, 33108537"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GGN0Globozoospermia"	"2023-11-30"
"GENCC_000106-HGNC_19869-OMIM_600920-HP_0000007-GENCC_100002"	"HGNC:19869"	"SCARF2"	"MONDO:0010959"	"van den Ende-Gupta syndrome"	"OMIM:600920"	"Van den Ende-Gupta syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19869"	"SCARF2"	"OMIM:600920"	"van den Ende-Gupta syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 15:03:51"	""	""	"20887961, 22140376, 23808541, 24478002, 3808541"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCARF20VanDenEnde"	"2023-11-30"
"GENCC_000106-HGNC_21088-OMIM_619086-HP_0000005-GENCC_100004"	"HGNC:21088"	"SCD5"	"MONDO:0033668"	"hearing loss, autosomal dominant 79"	"OMIM:619086"	"?Deafness, autosomal dominant 79"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21088"	"SCD5"	"OMIM:619086"	"?Deafness, autosomal dominant 79"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-11-17 19:36:25"	""	""	"27288323, 31972369, 33229591"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCD50SCD5rel"	"2023-11-30"
"GENCC_000106-HGNC_28472-OMIM_619832-HP_0000006-GENCC_100004"	"HGNC:28472"	"TMEM43"	"MONDO:0859235"	"auditory neuropathy, autosomal dominant 3"	"OMIM:619832"	"Auditory neuropathy, autosomal dominant 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28472"	"TMEM43"	"OMIM:619832"	"Auditory neuropathy, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-14 12:23:57"	""	""	"34050020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM430AuditoryNP"	"2023-11-30"
"GENCC_000106-HGNC_10582-OMIM_615551-HP_0000006-GENCC_100004"	"HGNC:10582"	"SCN10A"	"MONDO:0014246"	"episodic pain syndrome, familial, 2"	"OMIM:615551"	"Episodic pain syndrome, familial, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10582"	"SCN10A"	"OMIM:615551"	"episodic pain syndrome, familial, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-11 14:19:23"	""	""	"23115331, 23986244, 24006052, 26711856, 30731422"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN10A0PEPDis"	"2023-11-30"
"GENCC_000106-HGNC_10583-OMIM_615552-HP_0000006-GENCC_100002"	"HGNC:10583"	"SCN11A"	"MONDO:0014247"	"familial episodic pain syndrome with predominantly lower limb involvement"	"OMIM:615552"	"Episodic pain syndrome, familial, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10583"	"SCN11A"	"OMIM:615552"	"familial episodic pain syndrome with predominantly lower limb involvement"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 17:49:59"	""	""	"24207120, 26645915, 27224030, 27503742, 28298626, 30557356, 31551682"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN11A0Episodic"	"2023-11-30"
"GENCC_000106-HGNC_10583-OMIM_615548-HP_0000006-GENCC_100002"	"HGNC:10583"	"SCN11A"	"MONDO:0014244"	"hereditary sensory and autonomic neuropathy type 7"	"OMIM:615548"	"Neuropathy, hereditary sensory and autonomic, type VII"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10583"	"SCN11A"	"OMIM:615548"	"Neuropathy, hereditary sensory and autonomic, type VII"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-31 17:50:22"	""	""	"24036948, 24776970, 25118027, 26746779, 27781142, 28530638, 30554136, 36448457"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN11A0HSAN"	"2023-11-30"
"GENCC_000106-HGNC_10585-OMIM_609634-HP_0000006-GENCC_100002"	"HGNC:10585"	"SCN1A"	"MONDO:0012320"	"migraine, familial hemiplegic, 3"	"OMIM:609634"	"Migraine, familial hemiplegic, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10585"	"SCN1A"	"OMIM:609634"	"migraine, familial hemiplegic, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-02 18:01:10"	""	""	"16054936, 18621678, 18632931, 19332696, 23398611, 28202706"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HM3"	"2023-11-30"
"GENCC_000106-HGNC_10585-OMIM_607208-HP_0000006-GENCC_100002"	"HGNC:10585"	"SCN1A"	"MONDO:0100079"	"developmental and epileptic encephalopathy, 6"	"OMIM:607208"	"Dravet syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10585"	"SCN1A"	"OMIM:607208"	"developmental and epileptic encephalopathy, 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-20 15:37:12"	""	""	"17347258, 18930999, 25754450, 28202706"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN1A0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_10585-OMIM_604403-HP_0000006-GENCC_100002"	"HGNC:10585"	"SCN1A"	"MONDO:0011461"	"generalized epilepsy with febrile seizures plus, type 2"	"OMIM:604403"	"Generalized epilepsy with febrile seizures plus, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10585"	"SCN1A"	"OMIM:604403"	"generalized epilepsy with febrile seizures plus, type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-13 23:07:43"	""	""	"17347258, 18930999, 19522081, 21488258, 21488303, 21630778, 28202706"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN1A0GEFSplus"	"2023-11-30"
"GENCC_000106-HGNC_7994-OMIM_619833-HP_0000007-GENCC_100002"	"HGNC:7994"	"NRCAM"	"MONDO:0859236"	"neurodevelopmental disorder with neuromuscular and skeletal abnormalities"	"OMIM:619833"	"Neurodevelopmental disorder with neuromuscular and skeletal abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7994"	"NRCAM"	"OMIM:619833"	"Neurodevelopmental disorder with neuromuscular and skeletal abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-11 18:28:30"	""	""	"30763456, 35108495"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NRCAM0NRCAMrel"	"2023-11-30"
"GENCC_000106-HGNC_10586-OMIM_612838-HP_0000006-GENCC_100004"	"HGNC:10586"	"SCN1B"	"MONDO:0013015"	"Brugada syndrome 5"	"OMIM:612838"	"Brugada syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10586"	"SCN1B"	"OMIM:612838"	"Brugada syndrome 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-20 12:35:43"	""	""	"18464934, 19808477, 25253298"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN1B0Brugada"	"2023-11-30"
"GENCC_000106-HGNC_1738-OMIM_619841-HP_0000006-GENCC_100002"	"HGNC:1738"	"CDC42BPB"	"MONDO:0859239"	"Chilton-Okur-Chung neurodevelopmental syndrome"	"OMIM:619841"	"Chilton-Okur-Chung neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1738"	"CDC42BPB"	"OMIM:619841"	"Chilton-Okur-Chung neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-05-03 15:31:22"	""	""	"32031333"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CDC42BPB0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_10586-OMIM_604233-HP_0000006-GENCC_100002"	"HGNC:10586"	"SCN1B"	"MONDO:0011416"	"generalized epilepsy with febrile seizures plus, type 1"	"OMIM:604233"	"Generalized epilepsy with febrile seizures plus, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10586"	"SCN1B"	"OMIM:604233"	"generalized epilepsy with febrile seizures plus, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"11866477, 14504340, 17020904, 17629415, 19710327, 19808477, 22292491, 24065921, 30660056, 9697698"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN1B0GEFSplus"	"2023-11-30"
"GENCC_000106-HGNC_10588-OMIM_618924-HP_0000006-GENCC_100002"	"HGNC:10588"	"SCN2A"	"MONDO:0030064"	"episodic ataxia, type 9"	"OMIM:618924"	"Episodic ataxia, type 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10588"	"SCN2A"	"OMIM:618924"	"Episodic ataxia, type 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-19 14:36:20"	""	""	"1287821998, 20956790, 26645390, 27159988, 28065826, 30165711"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN2A0AtaxiaEpisod"	"2023-11-30"
"GENCC_000106-HGNC_10588-OMIM_607745-HP_0000006-GENCC_100002"	"HGNC:10588"	"SCN2A"	"MONDO:0011904"	"seizures, benign familial infantile, 3"	"OMIM:607745"	"Seizures, benign familial infantile, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10588"	"SCN2A"	"OMIM:607745"	"seizures, benign familial infantile, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 12:32:05"	""	""	"15048894, 16417554, 17386050, 18479388, 20371507, 23360469"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN2A0BFIS"	"2023-11-30"
"GENCC_000106-HGNC_10588-OMIM_613721-HP_0000006-GENCC_100002"	"HGNC:10588"	"SCN2A"	"MONDO:0013388"	"developmental and epileptic encephalopathy, 11"	"OMIM:613721"	"Developmental and epileptic encephalopathy 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10588"	"SCN2A"	"OMIM:613721"	"developmental and epileptic encephalopathy, 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 07:58:44"	""	""	"15028761, 23935176, 27848944, 28379373, 29852413"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN2A0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_10589-OMIM_615378-HP_0000005-GENCC_100004"	"HGNC:10589"	"SCN2B"	"MONDO:0014156"	"atrial fibrillation, familial, 14"	"OMIM:615378"	"Atrial fibrillation, familial, 14"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10589"	"SCN2B"	"OMIM:615378"	"atrial fibrillation, familial, 14"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 10:03:12"	""	""	"19808477"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN2B0Afib"	"2023-11-30"
"GENCC_000106-HGNC_10589-OMIM_615378-HP_0000006-GENCC_100004"	"HGNC:10589"	"SCN2B"	"MONDO:0014156"	"atrial fibrillation, familial, 14"	"OMIM:615378"	"Atrial fibrillation, familial, 14"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10589"	"SCN2B"	"OMIM:615378"	"atrial fibrillation, familial, 14"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 10:03:12"	""	""	"23559163"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN2B0Brugada"	"2023-11-30"
"GENCC_000106-HGNC_10590-OMIM_617938-HP_0000006-GENCC_100002"	"HGNC:10590"	"SCN3A"	"MONDO:0033371"	"developmental and epileptic encephalopathy, 62"	"OMIM:617938"	"Developmental and epileptic encephalopathy 62"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10590"	"SCN3A"	"OMIM:617938"	"Developmental and epileptic encephalopathy 62"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 12:28:30"	""	""	"26795593, 29286531, 29466837, 29740860"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN3A0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_10590-OMIM_617935-HP_0000006-GENCC_100002"	"HGNC:10590"	"SCN3A"	"MONDO:0054776"	"epilepsy, familial focal, with variable foci 4"	"OMIM:617935"	"Epilepsy, familial focal, with variable foci 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10590"	"SCN3A"	"OMIM:617935"	"Epilepsy, familial focal, with variable foci 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-29 08:13:25"	""	""	"18242854, 24157691, 24990319, 26795593, 28235671"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN3A0FPEVF"	"2023-11-30"
"GENCC_000106-HGNC_20665-OMIM_613120-HP_0000005-GENCC_100004"	"HGNC:20665"	"SCN3B"	"MONDO:0013146"	"Brugada syndrome 7"	"OMIM:613120"	"Brugada syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20665"	"SCN3B"	"OMIM:613120"	"Brugada syndrome 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 10:02:31"	""	""	"20558140, 21051419"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN3B0Afib"	"2023-11-30"
"GENCC_000106-HGNC_20665-OMIM_613120-HP_0000006-GENCC_100004"	"HGNC:20665"	"SCN3B"	"MONDO:0013146"	"Brugada syndrome 7"	"OMIM:613120"	"Brugada syndrome 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20665"	"SCN3B"	"OMIM:613120"	"Brugada syndrome 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 10:02:31"	""	""	"20031595, 20226894, 21051419, 23257389, 30847666"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN3B0Brugada"	"2023-11-30"
"GENCC_000106-HGNC_8049-OMIM_619844-HP_0000007-GENCC_100002"	"HGNC:8049"	"NUDT2"	"MONDO:0859240"	"intellectual developmental disorder with or without peripheral neuropathy"	"OMIM:619844"	"Intellectual developmental disorder with or without peripheral neuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8049"	"NUDT2"	"OMIM:619844"	"Intellectual developmental disorder with or without peripheral neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-05-03 15:34:35"	""	""	"27431290, 30059600, 31607746, 32552793, 33058507"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NUDT20ID"	"2023-11-30"
"GENCC_000106-HGNC_10591-OMIM_614198-HP_0000007-GENCC_100004"	"HGNC:10591"	"SCN4A"	"MONDO:0013620"	"congenital myasthenic syndrome 16"	"OMIM:614198"	"Myasthenic syndrome, congenital, 16"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10591"	"SCN4A"	"OMIM:614198"	"congenital myasthenic syndrome 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-02-07 16:39:18"	""	""	"12766226, 25707578, 26659129"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN4A0CMS"	"2023-11-30"
"GENCC_000106-HGNC_15879-OMIM_619846-HP_0000005-GENCC_100004"	"HGNC:15879"	"CTNNBL1"	"MONDO:0030798"	"immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias"	"OMIM:619846"	"?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15879"	"CTNNBL1"	"OMIM:619846"	"?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-05-03 15:33:55"	""	""	"32484799"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CTNNBL10CTNNBL1rel"	"2023-11-30"
"GENCC_000106-HGNC_10591-OMIM_613345-HP_0000006-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0013234"	"hypokalemic periodic paralysis, type 2"	"OMIM:613345"	"Hypokalemic periodic paralysis, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10591"	"SCN4A"	"OMIM:613345"	"hypokalemic periodic paralysis, type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 13:51:23"	""	""	"10944223, 17898326, 18162704, 19225109, 23019082, 29391559, 29674667, 29946067"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN4A0HOKPP"	"2023-11-30"
"GENCC_000106-HGNC_10591-OMIM_170500-HP_0000006-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0008224"	"hyperkalemic periodic paralysis"	"OMIM:170500"	"Hyperkalemic periodic paralysis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10591"	"SCN4A"	"OMIM:170500"	"hyperkalemic periodic paralysis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-18 05:35:59"	""	""	"11757950, 1659668, 17898326, 29391559, 29674667, 29946067, 9339683"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN4A0HYPP"	"2023-11-30"
"GENCC_000106-HGNC_10591-OMIM_168300-HP_0000006-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0008195"	"paramyotonia congenita of Von Eulenburg"	"OMIM:168300"	"Paramyotonia congenita"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10591"	"SCN4A"	"OMIM:168300"	"paramyotonia congenita of Von Eulenburg"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-24 13:32:53"	""	""	"1338909, 17898326, 18337730, 28330959, 29391559, 29606556, 29674667, 29946067"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN4A0PMC"	"2023-11-30"
"GENCC_000106-HGNC_10592-OMIM_611819-HP_0000005-GENCC_100004"	"HGNC:10592"	"SCN4B"	"MONDO:0012737"	"long QT syndrome 10"	"OMIM:611819"	"Long QT syndrome 10"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10592"	"SCN4B"	"OMIM:611819"	"long QT syndrome 10"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-07 08:07:48"	""	""	"23604097, 28837624"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN4B0Afib"	"2023-11-30"
"GENCC_000106-HGNC_10592-OMIM_611819-HP_0000006-GENCC_100004"	"HGNC:10592"	"SCN4B"	"MONDO:0012737"	"long QT syndrome 10"	"OMIM:611819"	"Long QT syndrome 10"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10592"	"SCN4B"	"OMIM:611819"	"long QT syndrome 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-07 08:07:48"	""	""	"17592081, 19862833, 23174487"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN4B0LongQT"	"2023-11-30"
"GENCC_000106-HGNC_10593-OMIM_603830-HP_0000006-GENCC_100002"	"HGNC:10593"	"SCN5A"	"MONDO:0011377"	"long QT syndrome 3"	"OMIM:603830"	"Long QT syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10593"	"SCN5A"	"OMIM:603830"	"long QT syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-17 18:45:54"	""	""	"11410597, 18378609, 18929244, 18929331, 19167345, 24582607"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN5A0Afib"	"2023-11-30"
"GENCC_000106-HGNC_10593-OMIM_601144-HP_0000006-GENCC_100002"	"HGNC:10593"	"SCN5A"	"MONDO:0011001"	"Brugada syndrome 1"	"OMIM:601144"	"Brugada syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10593"	"SCN5A"	"OMIM:601144"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-18 15:05:15"	""	""	"20129283, 22789973"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN5A0Brugada"	"2023-11-30"
"GENCC_000106-HGNC_10593-OMIM_601154-HP_0000006-GENCC_100002"	"HGNC:10593"	"SCN5A"	"MONDO:0011003"	"dilated cardiomyopathy 1E"	"OMIM:601154"	"Cardiomyopathy, dilated, 1E"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10593"	"SCN5A"	"OMIM:601154"	"dilated cardiomyopathy 1E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:52:30"	""	""	"15466643, 15671429, 20129283, 21596231, 21824921, 22675453, 22710484, 22766342, 22789973, 22999724, 23791817, 24815523, 25210054, 25624448"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN5A0DCM"	"2023-11-30"
"GENCC_000106-HGNC_10593-OMIM_608567-HP_0000007-GENCC_100002"	"HGNC:10593"	"SCN5A"	"MONDO:0024562"	"sick sinus syndrome 1"	"OMIM:608567"	"Sick sinus syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10593"	"SCN5A"	"OMIM:608567"	"Sick sinus syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-05 23:08:31"	""	""	"17442746, 20950709, 10690282, 11807557, 23104914, 16505387, 20564468, 32850980, 29951135, 3285098, 35052356"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN5A0SCN5AspectrumAR"	"2023-11-30"
"GENCC_000106-HGNC_10593-OMIM_608567-HP_0000006-GENCC_100004"	"HGNC:10593"	"SCN5A"	"MONDO:0024562"	"sick sinus syndrome 1"	"OMIM:608567"	"Sick sinus syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10593"	"SCN5A"	"OMIM:608567"	"Sick sinus syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-04-05 23:08:31"	""	""	"14523039, 15910881, 16162633, 17897635, 18361072, 22737129, 23818691, 24295898, 24762805, 26467377, 26798387, 28104484"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN5A0SSS"	"2023-11-30"
"GENCC_000106-HGNC_2960-OMIM_619858-HP_0000007-GENCC_100002"	"HGNC:2960"	"DNASE2"	"MONDO:0800132"	"autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency"	"OMIM:619858"	"Autoinflammatory-pancytopenia syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2960"	"DNASE2"	"OMIM:619858"	"Autoinflammatory-pancytopenia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 13:29:22"	""	""	"29259162"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNASE20DNASE2def"	"2023-11-30"
"GENCC_000106-HGNC_10596-OMIM_614558-HP_0000006-GENCC_100002"	"HGNC:10596"	"SCN8A"	"MONDO:0013801"	"developmental and epileptic encephalopathy, 13"	"OMIM:614558"	"Developmental and epileptic encephalopathy 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10596"	"SCN8A"	"OMIM:614558"	"developmental and epileptic encephalopathy, 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-28 18:17:01"	""	""	"25239001"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN8A0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_10596-OMIM_614306-HP_0000006-GENCC_100002"	"HGNC:10596"	"SCN8A"	"MONDO:0013680"	"cognitive impairment with or without cerebellar ataxia"	"OMIM:614306"	"Cognitive impairment with or without cerebellar ataxia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10596"	"SCN8A"	"OMIM:614306"	"cognitive impairment with or without cerebellar ataxia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 18:16:10"	""	""	"19254928, 28238546, 30968951, 31680123, 32651551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN8A0Epi0ID0DD"	"2023-11-30"
"GENCC_000106-HGNC_10597-OMIM_613863-HP_0000006-GENCC_100002"	"HGNC:10597"	"SCN9A"	"MONDO:0013470"	"generalized epilepsy with febrile seizures plus, type 7"	"OMIM:613863"	"Generalized epilepsy with febrile seizures plus, type 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10597"	"SCN9A"	"OMIM:613863"	"generalized epilepsy with febrile seizures plus, type 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-28 13:28:45"	""	""	"19763161, 23895530, 31394368, 32062735, 33216760"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN9A0GEFSplus"	"2023-11-30"
"GENCC_000106-HGNC_10597-OMIM_167400-HP_0000006-GENCC_100002"	"HGNC:10597"	"SCN9A"	"MONDO:0008179"	"paroxysmal extreme pain disorder"	"OMIM:167400"	"Paroxysmal extreme pain disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10597"	"SCN9A"	"OMIM:167400"	"Paroxysmal extreme pain disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 14:47:19"	""	""	"17145499, 21698661, 22826602, 25903274"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN9A0PEPDis"	"2023-11-30"
"GENCC_000106-HGNC_9354-OMIM_619862-HP_0000007-GENCC_100002"	"HGNC:9354"	"PRDX3"	"MONDO:0859245"	"spinocerebellar ataxia, autosomal recessive 32"	"OMIM:619862"	"Spinocerebellar ataxia, autosomal recessive 32"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9354"	"PRDX3"	"OMIM:619862"	"Spinocerebellar ataxia, autosomal recessive 32"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-17 13:50:35"	""	""	"33889951"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDX30ARCAT"	"2023-11-30"
"GENCC_000106-HGNC_10599-OMIM_613021-HP_0000005-GENCC_100004"	"HGNC:10599"	"SCNN1A"	"MONDO:0013087"	"bronchiectasis with or without elevated sweat chloride 2"	"OMIM:613021"	"Bronchiectasis with or without elevated sweat chloride 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10599"	"SCNN1A"	"OMIM:613021"	"bronchiectasis with or without elevated sweat chloride 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-10 13:13:35"	""	""	"15077107, 19462466, 19720813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCNN1A0Bronchiectasis"	"2023-11-30"
"GENCC_000106-HGNC_10599-OMIM_618126-HP_0000005-GENCC_100004"	"HGNC:10599"	"SCNN1A"	"MONDO:0029132"	"Liddle syndrome 3"	"OMIM:618126"	"?Liddle syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10599"	"SCNN1A"	"OMIM:618126"	"Liddle syndrome 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-01-05 20:38:41"	""	""	"28710092"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCNN1A0LiddleSyn"	"2023-11-30"
"GENCC_000106-HGNC_10604-OMIM_604377-HP_0000007-GENCC_100002"	"HGNC:10604"	"SCO2"	"MONDO:0011451"	"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1"	"OMIM:604377"	"Mitochondrial complex IV deficiency, nuclear type 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10604"	"SCO2"	"OMIM:604377"	"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"10545952, 18924171, 19837698, 23345593, 23719228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCO20CardioEnceph"	"2023-11-30"
"GENCC_000106-HGNC_10671-OMIM_615993-HP_0000007-GENCC_100002"	"HGNC:10671"	"SDCCAG8"	"MONDO:0014444"	"Bardet-Biedl syndrome 16"	"OMIM:615993"	"Bardet-Biedl syndrome 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10671"	"SDCCAG8"	"OMIM:615993"	"Bardet-Biedl syndrome 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"22190896, 249984, 250380, 25088364, 251276, 282276"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDCCAG80BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_10671-OMIM_613615-HP_0000007-GENCC_100002"	"HGNC:10671"	"SDCCAG8"	"MONDO:0013326"	"Senior-Loken syndrome 7"	"OMIM:613615"	"Senior-Loken syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10671"	"SDCCAG8"	"OMIM:613615"	"Senior-Loken syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:17"	""	""	"20835237, 251096"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDCCAG80SeniorLoken"	"2023-11-30"
"GENCC_000106-HGNC_10680-OMIM_252011-HP_0000007-GENCC_100002"	"HGNC:10680"	"SDHA"	"MONDO:0100294"	"mitochondrial complex II deficiency, nuclear type 1"	"OMIM:252011"	"Mitochondrial complex II deficiency, nuclear type 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10680"	"SDHA"	"OMIM:252011"	"mitochondrial complex II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-10 13:11:59"	""	""	"10746566, 16798039, 24781757, 7550341"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHA0ComplexIIDef"	"2023-11-30"
"GENCC_000106-HGNC_10680-OMIM_619259-HP_0000006-GENCC_100002"	"HGNC:10680"	"SDHA"	"MONDO:0031006"	"neurodegeneration with ataxia and late-onset optic atrophy"	"OMIM:619259"	"Neurodegeneration with ataxia and late-onset optic atrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10680"	"SDHA"	"OMIM:619259"	"Neurodegeneration with ataxia and late-onset optic atrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-22 19:34:24"	""	""	"10976639, 27683074, 28724664"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHA0ComplexIIDef02"	"2023-11-30"
"GENCC_000106-HGNC_10680-OMIM_614165-HP_0000006-GENCC_100002"	"HGNC:10680"	"SDHA"	"MONDO:0013602"	"paragangliomas 5"	"OMIM:614165"	"Pheochromocytoma/paraganglioma syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10680"	"SDHA"	"OMIM:614165"	"paragangliomas 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 22:55:24"	""	""	"20484225, 21752896, 22974104, 23322652, 24781757, 25034258, 26259135, 26273102, 26476567, 26722403, 28384794, 29177515, 29978154, 30068732, 30201732, 30680959, 30854332, 32612654, 32621582, 33219105, 33839693, 34255389"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHA0PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_10681-OMIM_606764-HP_0000006-GENCC_100002"	"HGNC:10681"	"SDHB"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10681"	"SDHB"	"OMIM:606764"	"gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-08 11:40:12"	""	""	"17667967, 17804857, 26113606, 26259135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHB0GIST"	"2023-11-30"
"GENCC_000106-HGNC_10681-OMIM_115310-HP_0000006-GENCC_100002"	"HGNC:10681"	"SDHB"	"MONDO:0007273"	"paragangliomas 4"	"OMIM:115310"	"Pheochromocytoma/paraganglioma syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10681"	"SDHB"	"OMIM:115310"	"paragangliomas 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-03 16:32:24"	""	""	"11404820, 12364472, 15328326, 17667967, 17804857, 19454582, 19802898, 21752896, 22517557, 23099648, 24893135, 26113606, 26259135, 26347711, 28374168, 29386252, 30201732, 30536464, 31492822, 34255389"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHB0PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_10682-OMIM_606764-HP_0000006-GENCC_100002"	"HGNC:10682"	"SDHC"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10682"	"SDHC"	"OMIM:606764"	"gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 11:52:49"	""	""	"17667967, 17804857, 21173220, 23282968"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHC0GIST"	"2023-11-30"
"GENCC_000106-HGNC_10682-OMIM_605373-HP_0000006-GENCC_100002"	"HGNC:10682"	"SDHC"	"MONDO:0011544"	"paragangliomas 3"	"OMIM:605373"	"Pheochromocytoma/paraganglioma syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10682"	"SDHC"	"OMIM:605373"	"paragangliomas 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-29 09:08:15"	""	""	"12658451, 15342702, 16249420, 17667967, 17804857, 18212813, 19454582, 21752896, 24423348, 24758179, 27279923, 29386252, 30201732, 30877234, 33195952"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHC0PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_10683-OMIM_606864-HP_0000006-GENCC_100002"	"HGNC:10683"	"SDHD"	"MONDO:0011740"	"Carney-Stratakis syndrome"	"OMIM:606864"	"Paraganglioma and gastric stromal sarcoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10683"	"SDHD"	"OMIM:606864"	"Carney-Stratakis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 11:49:43"	""	""	"17667967, 17804857, 23282968, 24886695"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHD0GIST"	"2023-11-30"
"GENCC_000106-HGNC_10683-OMIM_168000-HP_0000006-GENCC_100002"	"HGNC:10683"	"SDHD"	"MONDO:0008192"	"paragangliomas 1"	"OMIM:168000"	"Pheochromocytoma/paraganglioma syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10683"	"SDHD"	"OMIM:168000"	"paragangliomas 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-23 23:12:41"	""	""	"11391798, 15328326, 16317055, 168000, 17667967, 17804857, 19454582, 19802898, 21752896, 23072324, 23512077, 23666964, 24893135, 24899893, 27279923, 29386252, 29777207, 30375904, 31194241, 31365623, 31666924, 35060925"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SDHD0PGLPCC"	"2023-11-30"
"GENCC_000106-HGNC_10701-OMIM_607812-HP_0000005-GENCC_100004"	"HGNC:10701"	"SEC23A"	"MONDO:0011911"	"craniolenticulosutural dysplasia"	"OMIM:607812"	"Craniolenticulosutural dysplasia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10701"	"SEC23A"	"OMIM:607812"	"craniolenticulosutural dysplasia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-10-19 01:02:30"	""	""	"16980979, 17981132, 21039434, 26494538, 27148587, 37828500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEC23A0CranioLenticulo"	"2023-11-30"
"GENCC_000106-HGNC_17052-OMIM_618651-HP_0000005-GENCC_100004"	"HGNC:17052"	"SEC31A"	"MONDO:0032849"	"neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies"	"OMIM:618651"	"?Halperin-Birk syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17052"	"SEC31A"	"OMIM:618651"	"neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-15 12:07:00"	""	""	"1318120, 30464055, 83763484, 83763485"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEC31A0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_15999-OMIM_255310-HP_0000007-GENCC_100002"	"HGNC:15999"	"SELENON"	"MONDO:0800341"	"congenital myopathy 4A, autosomal dominant"	"OMIM:255310"	"Congenital myopathy 4A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15999"	"SELENON"	"OMIM:255310"	"congenital fiber-type disproportion myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"21131290, 21670436"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SELENON0Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_10727-OMIM_214800-HP_0000005-GENCC_100004"	"HGNC:10727"	"SEMA3E"	"MONDO:0008965"	"CHARGE syndrome"	"OMIM:214800"	"CHARGE syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10727"	"SEMA3E"	"OMIM:214800"	"CHARGE syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-16 13:52:19"	""	""	"26633542, 30653986, 30661757, 30773290, 32185379, 32870266, 33270637"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEMA3E0SEMA3Erel"	"2023-11-30"
"GENCC_000106-HGNC_10729-OMIM_610283-HP_0000005-GENCC_100004"	"HGNC:10729"	"SEMA4A"	"MONDO:0012464"	"cone-rod dystrophy 10"	"OMIM:610283"	"Cone-rod dystrophy 10"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10729"	"SEMA4A"	"OMIM:610283"	"Cone-rod dystrophy 10"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:50"	""	""	"15277503, 16199541, 23360997, 26103963, 29453956, 30245926"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEMA4A0ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_10729-OMIM_610282-HP_0000005-GENCC_100004"	"HGNC:10729"	"SEMA4A"	"MONDO:0012463"	"retinitis pigmentosa 35"	"OMIM:610282"	"Retinitis pigmentosa 35"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10729"	"SEMA4A"	"OMIM:610282"	"retinitis pigmentosa 35"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:09"	""	""	"23591405, 26856745"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SEMA4A0RP"	"2023-11-30"
"GENCC_000106-HGNC_7603-OMIM_619868-HP_0000007-GENCC_100002"	"HGNC:7603"	"MYO5B"	"MONDO:0030810"	"cholestasis, progressive familial intrahepatic, 10"	"OMIM:619868"	"Cholestasis, progressive familial intrahepatic, 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7603"	"MYO5B"	"OMIM:619868"	"Cholestasis, progressive familial intrahepatic, 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-01 19:46:46"	""	""	"27532546, 28027573, 31750554"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MYO5B0Cholest"	"2023-11-30"
"GENCC_000106-HGNC_6889-OMIM_619869-HP_0000007-GENCC_100002"	"HGNC:6889"	"MAPKAPK5"	"MONDO:0859247"	"neurocardiofaciodigital syndrome"	"OMIM:619869"	"Neurocardiofaciodigital syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6889"	"MAPKAPK5"	"OMIM:619869"	"Neurocardiofaciodigital syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-05 20:43:19"	""	""	"33442026, 36581449"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAPKAPK50MAPKAPK5rel"	"2023-11-30"
"GENCC_000106-HGNC_21061-OMIM_614739-HP_0000007-GENCC_100002"	"HGNC:21061"	"SERAC1"	"MONDO:0013875"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"	"OMIM:614739"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21061"	"SERAC1"	"OMIM:614739"	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-24 20:22:42"	""	""	"22683713, 23707711, 23918762, 24741715"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERAC103Methyl"	"2023-11-30"
"GENCC_000106-HGNC_1540-OMIM_611489-HP_0000005-GENCC_100004"	"HGNC:1540"	"SERPINA6"	"MONDO:0012675"	"corticosteroid-binding globulin deficiency"	"OMIM:611489"	"Corticosteroid-binding globulin deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1540"	"SERPINA6"	"OMIM:611489"	"corticosteroid-binding globulin deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-25 14:39:31"	""	""	"11502797, 20610591, 21795453, 22013108, 22948765"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINA60SERPINA6rel02"	"2023-11-30"
"GENCC_000106-HGNC_9354-OMIM_619871-HP_0000006-GENCC_100002"	"HGNC:9354"	"PRDX3"	"MONDO:0859248"	"corneal dystrophy, punctiform and polychromatic pre-descemet"	"OMIM:619871"	"Corneal dystrophy, punctiform and polychromatic pre-Descemet"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9354"	"PRDX3"	"OMIM:619871"	"Corneal dystrophy, punctiform and polychromatic pre-Descemet"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 13:31:19"	""	""	"31782998"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRDX30PRDX3rel"	"2023-11-30"
"GENCC_000106-HGNC_8952-OMIM_617115-HP_0000005-GENCC_100004"	"HGNC:8952"	"SERPINB8"	"MONDO:0014923"	"peeling skin syndrome 5"	"OMIM:617115"	"Peeling skin syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:8952"	"SERPINB8"	"OMIM:617115"	"peeling skin syndrome 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:01"	""	""	"27476651"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINB80PeelingS02"	"2023-11-30"
"GENCC_000106-HGNC_4838-OMIM_612356-HP_0000005-GENCC_100004"	"HGNC:4838"	"SERPIND1"	"MONDO:0012876"	"heparin cofactor 2 deficiency"	"OMIM:612356"	"Thrombophilia 10 due to heparin cofactor II deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4838"	"SERPIND1"	"OMIM:612356"	"heparin cofactor 2 deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-29 08:39:56"	""	""	"15337701, 2647747, 277130, 8562924"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPIND10HCII0Deficiency"	"2023-11-30"
"GENCC_000106-HGNC_9075-OMIM_262850-HP_0000006-GENCC_100004"	"HGNC:9075"	"SERPINF2"	"MONDO:0009883"	"alpha-2-plasmin inhibitor deficiency"	"OMIM:262850"	"Alpha-2-plasmin inhibitor deficiency"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:9075"	"SERPINF2"	"OMIM:262850"	"alpha-2-plasmin inhibitor deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:58"	""	""	"10583218, 31577375"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SERPINF20Alpha"	"2023-11-30"
"GENCC_000106-HGNC_15763-OMIM_619872-HP_0000005-GENCC_100004"	"HGNC:15763"	"POLR3F"	"MONDO:0030813"	"immunodeficiency 101 (varicella zoster virus-specific)"	"OMIM:619872"	"?Immunodeficiency 101 (varicella zoster virus-specific)"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15763"	"POLR3F"	"OMIM:619872"	"?Immunodeficiency 101 (varicella zoster virus-specific) "	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-21 14:02:34"	""	""	"30211253"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"POLR3F0POLR3Frel"	"2023-11-30"
"GENCC_000106-HGNC_16816-OMIM_619873-HP_0000006-GENCC_100002"	"HGNC:16816"	"CHD5"	"MONDO:0859249"	"parenti-mignot neurodevelopmental syndrome"	"OMIM:619873"	"Parenti-Mignot neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16816"	"CHD5"	"OMIM:619873"	"Parenti-Mignot neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-01 13:56:55"	""	""	"33944996"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHD50CHD5rel"	"2023-11-30"
"GENCC_000106-HGNC_29010-OMIM_618832-HP_0000005-GENCC_100004"	"HGNC:29010"	"SETD1A"	"MONDO:0030005"	"epilepsy, early-onset, with or without developmental delay"	"OMIM:618832"	"Epilepsy, early-onset, 2, with or without developmental delay"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29010"	"SETD1A"	"OMIM:618832"	"epilepsy, early-onset, with or without developmental delay"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-20 11:43:32"	""	""	"24853937, 26974950, 29276005"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETD1A0ID"	"2023-11-30"
"GENCC_000106-HGNC_2326-OMIM_619876-HP_0000007-GENCC_100004"	"HGNC:2326"	"CPSF3"	"MONDO:0859250"	"neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	"OMIM:619876"	"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2326"	"CPSF3"	"OMIM:619876"	"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-06-21 14:01:54"	""	""	"35121750"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CPSF30ID"	"2023-11-30"
"GENCC_000106-HGNC_18420-OMIM_616831-HP_0000006-GENCC_100002"	"HGNC:18420"	"SETD2"	"MONDO:0014791"	"Luscan-Lumish syndrome"	"OMIM:616831"	"Luscan-Lumish syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18420"	"SETD2"	"OMIM:616831"	"Luscan-Lumish syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 22:26:32"	""	""	"23160955, 24852293, 24901346, 26084711"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETD20LuscanLumish"	"2023-11-30"
"GENCC_000106-HGNC_18420-OMIM_620155-HP_0000006-GENCC_100002"	"HGNC:18420"	"SETD2"	"MONDO:0859331"	"Rabin-Pappas syndrome"	"OMIM:620155"	"Rabin-Pappas syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18420"	"SETD2"	"OMIM:620155"	"Rabin-Pappas syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 22:42:45"	""	""	"32710489, 37372360"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETD20RabinPappas"	"2023-11-30"
"GENCC_000106-HGNC_445-OMIM_606002-HP_0000007-GENCC_100002"	"HGNC:445"	"SETX"	"MONDO:0018996"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	"OMIM:606002"	"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:445"	"SETX"	"OMIM:606002"	"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-13 19:20:30"	""	""	"14770181, 16636238, 19440741, 19696032"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SETX0SCAR"	"2023-11-30"
"GENCC_000106-HGNC_10801-OMIM_265120-HP_0000007-GENCC_100002"	"HGNC:10801"	"SFTPB"	"MONDO:0009929"	"surfactant metabolism dysfunction, pulmonary, 1"	"OMIM:265120"	"Surfactant metabolism dysfunction, pulmonary, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10801"	"SFTPB"	"OMIM:265120"	"neonatal acute respiratory distress due to SP-B deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 23:48:33"	""	""	"10712351"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SFTPB0Surfacta02"	"2023-11-30"
"GENCC_000106-HGNC_10802-OMIM_610913-HP_0000006-GENCC_100002"	"HGNC:10802"	"SFTPC"	"MONDO:0024465"	"surfactant metabolism dysfunction, pulmonary, 2"	"OMIM:610913"	"Surfactant metabolism dysfunction, pulmonary, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10802"	"SFTPC"	"OMIM:610913"	"surfactant metabolism dysfunction, pulmonary, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-31 18:58:53"	""	""	"12519727, 19443464, 19910179, 20656946, 21707890, 21828032, 22308375, 26046366, 26925580"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SFTPC0Surfacta04"	"2023-11-30"
"GENCC_000106-HGNC_10817-OMIM_617575-HP_0000007-GENCC_100002"	"HGNC:10817"	"SGPL1"	"MONDO:0033203"	"nephrotic syndrome 14"	"OMIM:617575"	"RENI syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10817"	"SGPL1"	"OMIM:617575"	"nephrotic syndrome 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"28165339, 28165343"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SGPL10NephroticSyn"	"2023-11-30"
"GENCC_000106-HGNC_2232-OMIM_619884-HP_0000006-GENCC_100002"	"HGNC:2232"	"COPB2"	"MONDO:0859253"	"osteoporosis, childhood- or juvenile-onset, with developmental delay"	"OMIM:619884"	"Osteoporosis, childhood- or juvenile-onset, with developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2232"	"COPB2"	"OMIM:619884"	"Osteoporosis, childhood- or juvenile-onset, with developmental delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-21 14:05:26"	""	""	"34450031"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COPB20EarlyOsteo"	"2023-11-30"
"GENCC_000106-HGNC_12425-OMIM_619902-HP_0000007-GENCC_100002"	"HGNC:12425"	"TULP3"	"MONDO:0859254"	"hepatorenocardiac degenerative fibrosis"	"OMIM:619902"	"Hepatorenocardiac degenerative fibrosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12425"	"TULP3"	"OMIM:619902"	"Hepatorenocardiac degenerative fibrosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-21 14:07:40"	""	""	"35397207"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TULP30LiverFib"	"2023-11-30"
"GENCC_000106-HGNC_10848-OMIM_142945-HP_0000006-GENCC_100002"	"HGNC:10848"	"SHH"	"MONDO:0007733"	"holoprosencephaly 3"	"OMIM:142945"	"Holoprosencephaly 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10848"	"SHH"	"OMIM:142945"	"holoprosencephaly 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 11:39:53"	""	""	"10556296, 11919111, 12503095, 19603532, 20104608, 20859208, 21976454, 22791840, 24764759, 8837770, 8896572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHH0Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_1492-OMIM_617213-HP_0000005-GENCC_100004"	"HGNC:1492"	"SHPK"	"MONDO:0014969"	"isolated sedoheptulokinase deficiency"	"OMIM:617213"	"[Sedoheptulokinase deficiency]"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1492"	"SHPK"	"OMIM:617213"	"isolated sedoheptulokinase deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:01"	""	""	"25647543"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHPK0Sedoheptdef"	"2023-11-30"
"GENCC_000106-HGNC_25543-OMIM_619922-HP_0000007-GENCC_100002"	"HGNC:25543"	"SHQ1"	"MONDO:0859258"	"neurodevelopmental disorder with dystonia and seizures"	"OMIM:619922"	"Neurodevelopmental disorder with dystonia and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25543"	"SHQ1"	"OMIM:619922"	"Neurodevelopmental disorder with dystonia and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 21:48:09"	""	""	"29178645, 31887429, 34542157, 36810590, 36847845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SHQ10SHQ1rel"	"2023-11-30"
"GENCC_000106-HGNC_18187-OMIM_613551-HP_0000005-GENCC_100004"	"HGNC:18187"	"SIAE"	"MONDO:0013303"	"autoimmune disease, susceptibility to, 6"	"OMIM:613551"	"{Autoimmune disease, susceptibility to, 6}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18187"	"SIAE"	"OMIM:613551"	"autoimmune disease, susceptibility to, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-22 14:21:13"	""	""	"20555325, 22200769, 28900629"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIAE0Autoimmune"	"2023-11-30"
"GENCC_000106-HGNC_11805-OMIM_619908-HP_0000007-GENCC_100002"	"HGNC:11805"	"TIAM1"	"MONDO:0859256"	"neurodevelopmental disorder with language delay and seizures"	"OMIM:619908"	"Neurodevelopmental disorder with language delay and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11805"	"TIAM1"	"OMIM:619908"	"Neurodevelopmental disorder with language delay and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-21 14:51:51"	""	""	"28191890, 29725052, 35240055"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIAM10TIAM1rel"	"2023-11-30"
"GENCC_000106-HGNC_8157-OMIM_614373-HP_0000007-GENCC_100002"	"HGNC:8157"	"SIGMAR1"	"MONDO:0013715"	"amyotrophic lateral sclerosis type 16"	"OMIM:614373"	"?Amyotrophic lateral sclerosis 16, juvenile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8157"	"SIGMAR1"	"OMIM:614373"	"amyotrophic lateral sclerosis type 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-09 11:03:59"	""	""	"21842496, 25175561, 27821430, 28160950, 30311446"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIGMAR10ALS"	"2023-11-30"
"GENCC_000106-HGNC_15840-OMIM_619934-HP_0000005-GENCC_100004"	"HGNC:15840"	"KMT2B"	"MONDO:0030969"	"intellectual developmental disorder, autosomal dominant 68"	"OMIM:619934"	"Intellectual developmental disorder, autosomal dominant 68"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15840"	"KMT2B"	"OMIM:619934"	"Intellectual developmental disorder, autosomal dominant 68"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-16 20:23:09"	""	""	"25405613"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KMT2B0ID"	"2023-11-30"
"GENCC_000106-HGNC_5432-OMIM_619935-HP_0000007-GENCC_100002"	"HGNC:5432"	"IFNAR1"	"MONDO:0030970"	"immunodeficiency 106, susceptibility to viral infections"	"OMIM:619935"	"Immunodeficiency 106, susceptibility to viral infections"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5432"	"IFNAR1"	"OMIM:619935"	"Immunodeficiency 106, susceptibility to viral infections"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-19 13:34:11"	""	""	"23721943, 29106381, 31270247, 32960813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"IFNAR10IFNAR1def"	"2023-11-30"
"GENCC_000106-HGNC_23801-OMIM_616851-HP_0000005-GENCC_100004"	"HGNC:23801"	"SIPA1L3"	"MONDO:0014799"	"cataract 45"	"OMIM:616851"	"?Cataract 45"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23801"	"SIPA1L3"	"OMIM:616851"	"cataract 45"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:56"	""	""	"25804400, 26231217, 28951961, 29914532, 34603379"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIPA1L30CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_10887-OMIM_608389-HP_0000006-GENCC_100002"	"HGNC:10887"	"SIX1"	"MONDO:0012025"	"branchiootic syndrome 3"	"OMIM:608389"	"Branchiootic syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10887"	"SIX1"	"OMIM:608389"	"branchiootic syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-26 14:10:47"	""	""	"12783782, 15141091, 16652090, 18330911, 19389353, 19497856, 19726885, 21254961, 23435380, 28566479"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIX10BOR-BOS"	"2023-11-30"
"GENCC_000106-HGNC_10889-OMIM_157170-HP_0000006-GENCC_100002"	"HGNC:10889"	"SIX3"	"MONDO:0007999"	"holoprosencephaly 2"	"OMIM:157170"	"Holoprosencephaly 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10889"	"SIX3"	"OMIM:157170"	"holoprosencephaly 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 11:37:14"	""	""	"12569128, 18694563, 18791198, 19346217, 20104608, 20157829"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIX30Holoprosenceph"	"2023-11-30"
"GENCC_000106-HGNC_10891-OMIM_610896-HP_0000005-GENCC_100004"	"HGNC:10891"	"SIX5"	"MONDO:0012575"	"branchiootorenal syndrome 2"	"OMIM:610896"	"Branchiootorenal syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10891"	"SIX5"	"OMIM:610896"	"branchiootorenal syndrome 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-18 10:00:44"	""	""	"17357085, 21280147, 31581539"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SIX50Branciootorenal"	"2023-11-30"
"GENCC_000106-HGNC_10906-OMIM_613291-HP_0000005-GENCC_100004"	"HGNC:10906"	"SLC10A2"	"MONDO:0013214"	"bile acid malabsorption, primary, 1"	"OMIM:613291"	"?Bile acid malabsorption, primary, 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10906"	"SLC10A2"	"OMIM:613291"	"bile acid malabsorption, primary, 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-07-08 07:34:36"	""	""	"11742882, 12819193, 21649730, 22093174, 30504769, 9109432"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC10A20BileAcid03"	"2023-11-30"
"GENCC_000106-HGNC_10911-OMIM_619081-HP_0000006-GENCC_100002"	"HGNC:10911"	"SLC12A2"	"MONDO:0033665"	"hearing loss, autosomal dominant 78"	"OMIM:619081"	"Deafness, autosomal dominant 78"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10911"	"SLC12A2"	"OMIM:619081"	"Deafness, autosomal dominant 78"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-17 07:17:33"	""	""	"32294086"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC12A20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_10911-OMIM_619083-HP_0000006-GENCC_100002"	"HGNC:10911"	"SLC12A2"	"MONDO:0033667"	"Delpire-McNeill syndrome"	"OMIM:619083"	"Delpire-McNeill syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10911"	"SLC12A2"	"OMIM:619083"	"Delpire-McNeill syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-16 20:45:57"	""	""	"26537360, 32658972"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC12A20Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_10911-OMIM_619080-HP_0000007-GENCC_100002"	"HGNC:10911"	"SLC12A2"	"MONDO:0033664"	"Kilquist syndrome"	"OMIM:619080"	"Kilquist syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10911"	"SLC12A2"	"OMIM:619080"	"Kilquist syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-08 12:18:49"	""	""	"10369265, 10831596, 127471419, 28940097, 30740830, 32754646"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC12A20SLC12A2rel"	"2023-11-30"
"GENCC_000106-HGNC_6343-OMIM_619947-HP_0000005-GENCC_100004"	"HGNC:6343"	"KITLG"	"MONDO:0030983"	"Waardenburg syndrome, IIa 2F"	"OMIM:619947"	"Waardenburg syndrome, type 2F"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6343"	"KITLG"	"OMIM:619947"	"Waardenburg syndrome, type 2F"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-13 10:25:29"	""	""	"26522471, 28504826"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KITLG0WS2A"	"2023-11-30"
"GENCC_000106-HGNC_14430-OMIM_618384-HP_0000005-GENCC_100004"	"HGNC:14430"	"SLC13A3"	"MONDO:0032716"	"leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"OMIM:618384"	"Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14430"	"SLC13A3"	"OMIM:618384"	"leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-05-02 12:45:49"	""	""	"30635937"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC13A30SLC13A3rel"	"2023-11-30"
"GENCC_000106-HGNC_10922-OMIM_245340-HP_0000005-GENCC_100004"	"HGNC:10922"	"SLC16A1"	"MONDO:0009501"	"metabolic myopathy due to lactate transporter defect"	"OMIM:245340"	"Erythrocyte lactate transporter defect"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10922"	"SLC16A1"	"OMIM:245340"	"Erythrocyte lactate transporter defect"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-06-12 08:55:54"	""	""	"10590411"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC16A10Ertythro"	"2023-11-30"
"GENCC_000106-HGNC_10922-OMIM_610021-HP_0000005-GENCC_100004"	"HGNC:10922"	"SLC16A1"	"MONDO:0012396"	"exercise-induced hyperinsulinism"	"OMIM:610021"	"Hyperinsulinemic hypoglycemia, familial, 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10922"	"SLC16A1"	"OMIM:610021"	"Hyperinsulinemic hypoglycemia, familial, 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-10 09:09:53"	""	""	"17701893, 28491926"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC16A10Hyperin"	"2023-11-30"
"GENCC_000106-HGNC_10922-OMIM_616095-HP_0000006-GENCC_100002"	"HGNC:10922"	"SLC16A1"	"MONDO:0014490"	"ketoacidosis due to monocarboxylate transporter-1 deficiency"	"OMIM:616095"	"Monocarboxylate transporter 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10922"	"SLC16A1"	"OMIM:616095"	"ketoacidosis due to monocarboxylate transporter-1 deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:55:46"	""	""	"25390740"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC16A10Monocarbox"	"2023-11-30"
"GENCC_000106-HGNC_10933-OMIM_269920-HP_0000007-GENCC_100002"	"HGNC:10933"	"SLC17A5"	"MONDO:0010027"	"free sialic acid storage disease, infantile form"	"OMIM:269920"	"Sialic acid storage disorder, infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10933"	"SLC17A5"	"OMIM:269920"	"free sialic acid storage disease, infantile form"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-11 16:04:00"	""	""	"10581036, 10947946, 11992753, 15172001, 20301643"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC17A50SialicAcidStor"	"2023-11-30"
"GENCC_000106-HGNC_20151-OMIM_605583-HP_0000005-GENCC_100004"	"HGNC:20151"	"SLC17A8"	"MONDO:0011568"	"autosomal dominant nonsyndromic hearing loss 25"	"OMIM:605583"	"Deafness, autosomal dominant 25"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20151"	"SLC17A8"	"OMIM:605583"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-12-04 15:30:46"	""	""	"11115382, 18215623, 18674745, 23967202, 24082139, 26797701, 26969326, 27068579, 27610647, 28647561, 33724713, 34145196, 34440452, 34783032"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC17A80Deafness"	"2023-11-30"
"GENCC_000106-HGNC_9099-OMIM_619955-HP_0000007-GENCC_100002"	"HGNC:9099"	"PLXNA1"	"MONDO:0859260"	"Dworschak-Punetha neurodevelopmental syndrome"	"OMIM:619955"	"Dworschak-Punetha neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9099"	"PLXNA1"	"OMIM:619955"	"Dworschak-Punetha neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-15 16:41:19"	""	""	"34054129"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLXNA10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_10935-OMIM_618049-HP_0000007-GENCC_100002"	"HGNC:10935"	"SLC18A2"	"MONDO:0054836"	"parkinsonism-dystonia, infantile, 2"	"OMIM:618049"	"Parkinsonism-dystonia, infantile, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10935"	"SLC18A2"	"OMIM:618049"	"parkinsonism-dystonia, infantile, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-05 17:09:43"	""	""	"23363473, 26497564, 26539891, 28716265, 31618753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC18A20BrainDSVTD"	"2023-11-30"
"GENCC_000106-HGNC_10936-OMIM_617239-HP_0000007-GENCC_100002"	"HGNC:10936"	"SLC18A3"	"MONDO:0014983"	"congenital myasthenic syndrome 21"	"OMIM:617239"	"Myasthenic syndrome, congenital, 21, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10936"	"SLC18A3"	"OMIM:617239"	"congenital myasthenic syndrome 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:57"	""	""	"27590285, 28188302, 31059209"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC18A30CMS"	"2023-11-30"
"GENCC_000106-HGNC_10940-OMIM_617105-HP_0000006-GENCC_100002"	"HGNC:10940"	"SLC1A2"	"MONDO:0014916"	"developmental and epileptic encephalopathy, 41"	"OMIM:617105"	"Developmental and epileptic encephalopathy 41"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10940"	"SLC1A2"	"OMIM:617105"	"developmental and epileptic encephalopathy, 41"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:46:23"	""	""	"16520390, 22728822, 25910213, 27476654, 28777935, 30937933"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC1A20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_10940-OMIM_617105-HP_0000007-GENCC_100004"	"HGNC:10940"	"SLC1A2"	"MONDO:0014916"	"developmental and epileptic encephalopathy, 41"	"OMIM:617105"	"Developmental and epileptic encephalopathy 41"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10940"	"SLC1A2"	"OMIM:617105"	"developmental and epileptic encephalopathy, 41"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-14 12:46:23"	""	""	"28915517"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC1A20EIEE02"	"2023-11-30"
"GENCC_000106-HGNC_10941-OMIM_612656-HP_0000006-GENCC_100002"	"HGNC:10941"	"SLC1A3"	"MONDO:0012982"	"episodic ataxia type 6"	"OMIM:612656"	"Episodic ataxia, type 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10941"	"SLC1A3"	"OMIM:612656"	"episodic ataxia type 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-03 11:37:03"	""	""	"16116111, 19139306, 23107647, 24214974, 25497598, 25642194, 27829685, 29062094, 29208948, 29482223, 9753165"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC1A30AtaxiaEpisod"	"2023-11-30"
"GENCC_000106-HGNC_10947-OMIM_213600-HP_0000006-GENCC_100002"	"HGNC:10947"	"SLC20A2"	"MONDO:0024538"	"basal ganglia calcification, idiopathic, 1"	"OMIM:213600"	"Basal ganglia calcification, idiopathic, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10947"	"SLC20A2"	"OMIM:213600"	"basal ganglia calcification, idiopathic, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-26 07:12:45"	""	""	"20301594, 23334463, 24065723, 26129893, 29955172"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC20A20BasalGanglia"	"2023-11-30"
"GENCC_000106-HGNC_10979-OMIM_618197-HP_0000007-GENCC_100002"	"HGNC:10979"	"SLC25A1"	"MONDO:0032596"	"myasthenic syndrome, congenital, 23, presynaptic"	"OMIM:618197"	"Myasthenic syndrome, congenital, 23, presynaptic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10979"	"SLC25A1"	"OMIM:618197"	"myasthenic syndrome, congenital, 23, presynaptic"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-02 14:50:33"	""	""	"26870663, 29238895, 31527857, 31808147"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A10CMS"	"2023-11-30"
"GENCC_000106-HGNC_10980-OMIM_618972-HP_0000005-GENCC_100004"	"HGNC:10980"	"SLC25A10"	"MONDO:0033545"	"mitochondrial DNA depletion syndrome 19"	"OMIM:618972"	"?Mitochondrial DNA depletion syndrome 19"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:10980"	"SLC25A10"	"OMIM:618972"	"mitochondrial DNA depletion syndrome 19"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-08-07 06:49:56"	""	""	"29211846, 31185018"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A100SLC25A10rel"	"2023-11-30"
"GENCC_000106-HGNC_15772-OMIM_619964-HP_0000006-GENCC_100002"	"HGNC:15772"	"ARFGEF1"	"MONDO:0859263"	"developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"OMIM:619964"	"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15772"	"ARFGEF1"	"OMIM:619964"	"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 17:02:11"	""	""	"28135719, 31175295, 31785789, 34113008"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARFGEF10ARFGEF1rel"	"2023-11-30"
"GENCC_000106-HGNC_10983-OMIM_603471-HP_0000007-GENCC_100002"	"HGNC:10983"	"SLC25A13"	"MONDO:0011326"	"citrullinemia, type II, adult-onset"	"OMIM:603471"	"Citrullinemia, adult-onset type II"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10983"	"SLC25A13"	"OMIM:603471"	"Citrullinemia, adult-onset type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"10369257, 14680984, 14701727, 15675368, 21914561, 23053473, 27405544"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A130CitrinDef02"	"2023-11-30"
"GENCC_000106-HGNC_14409-OMIM_607196-HP_0000007-GENCC_100002"	"HGNC:14409"	"SLC25A19"	"MONDO:0011790"	"Amish lethal microcephaly"	"OMIM:607196"	"Microcephaly, Amish type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14409"	"SLC25A19"	"OMIM:607196"	"Amish lethal microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"12185364, 17035501"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A190Microcephaly"	"2023-11-30"
"GENCC_000106-HGNC_14409-OMIM_613710-HP_0000007-GENCC_100002"	"HGNC:14409"	"SLC25A19"	"MONDO:0013382"	"progressive demyelinating neuropathy with bilateral striatal necrosis"	"OMIM:613710"	"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14409"	"SLC25A19"	"OMIM:613710"	"progressive demyelinating neuropathy with bilateral striatal necrosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:22:32"	""	""	"19798730, 28771251, 28856750"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A190ThiamineMetab"	"2023-11-30"
"GENCC_000106-HGNC_14411-OMIM_618811-HP_0000005-GENCC_100004"	"HGNC:14411"	"SLC25A21"	"MONDO:0032932"	"mitochondrial DNA depletion syndrome 18"	"OMIM:618811"	"?Mitochondrial DNA depletion syndrome 18"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14411"	"SLC25A21"	"OMIM:618811"	"mitochondrial DNA depletion syndrome 18"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-20 19:03:27"	""	""	"25759628, 29517768"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A210MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_29683-OMIM_616839-HP_0000007-GENCC_100004"	"HGNC:29683"	"SLC25A32"	"MONDO:0014795"	"exercise intolerance, riboflavin-responsive"	"OMIM:616839"	"?Exercise intolerance, riboflavin-responsive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29683"	"SLC25A32"	"OMIM:616839"	"exercise intolerance, riboflavin-responsive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-18 15:21:17"	""	""	"26933868, 28443623"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A320?Exercis"	"2023-11-30"
"GENCC_000106-HGNC_10990-OMIM_617184-HP_0000006-GENCC_100002"	"HGNC:10990"	"SLC25A4"	"MONDO:0014959"	"mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant"	"OMIM:617184"	"Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10990"	"SLC25A4"	"OMIM:617184"	"mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-03 13:25:49"	""	""	"27693233, 30046662"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A40MitoDNA02"	"2023-11-30"
"GENCC_000106-HGNC_10990-OMIM_609283-HP_0000006-GENCC_100002"	"HGNC:10990"	"SLC25A4"	"MONDO:0012238"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2"	"OMIM:609283"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10990"	"SLC25A4"	"OMIM:609283"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-07 19:58:02"	""	""	"10364542, 10926541, 21586654, 22497660, 9207786"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A40PEO"	"2023-11-30"
"GENCC_000106-HGNC_25198-OMIM_616505-HP_0000007-GENCC_100002"	"HGNC:25198"	"SLC25A46"	"MONDO:0014671"	"neuropathy, hereditary motor and sensory, type 6B"	"OMIM:616505"	"Neuropathy, hereditary motor and sensory, type VIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25198"	"SLC25A46"	"OMIM:616505"	"neuropathy, hereditary motor and sensory, type 6B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"26168012, 26951855, 27543974"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A460CMT"	"2023-11-30"
"GENCC_000106-HGNC_25198-OMIM_619303-HP_0000007-GENCC_100002"	"HGNC:25198"	"SLC25A46"	"MONDO:0030260"	"pontocerebellar hypoplasia, type 1E"	"OMIM:619303"	"Pontocerebellar hypoplasia, type 1E"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25198"	"SLC25A46"	"OMIM:619303"	"Pontocerebellar hypoplasia, type 1E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-07 11:53:16"	""	""	"27543974, 28653766"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC25A460PCH"	"2023-11-30"
"GENCC_000106-HGNC_8818-OMIM_600791-HP_0000007-GENCC_100002"	"HGNC:8818"	"SLC26A4"	"MONDO:0010933"	"autosomal recessive nonsyndromic hearing loss 4"	"OMIM:600791"	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:8818"	"SLC26A4"	"OMIM:600791"	"autosomal recessive nonsyndromic hearing loss 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-29 12:47:16"	""	""	"16283880, 223536, 250614, 26226137, 26252218, 282410, 282700"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC26A40Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11005-OMIM_601042-HP_0000006-GENCC_100002"	"HGNC:11005"	"SLC2A1"	"MONDO:0010983"	"dystonia 9"	"OMIM:601042"	"Dystonia 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11005"	"SLC2A1"	"OMIM:601042"	"dystonia 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:47:12"	""	""	"20129935, 21832227, 24847886, 26193382"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC2A10Dystonia02"	"2023-11-30"
"GENCC_000106-HGNC_11005-OMIM_614847-HP_0000006-GENCC_100002"	"HGNC:11005"	"SLC2A1"	"MONDO:0013919"	"epilepsy, idiopathic generalized, susceptibility to, 12"	"OMIM:614847"	"{Epilepsy, idiopathic generalized, susceptibility to, 12}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11005"	"SLC2A1"	"OMIM:614847"	"{Epilepsy, idiopathic generalized, susceptibility to, 12}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 11:30:10"	""	""	"26193382"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC2A10EIG"	"2023-11-30"
"GENCC_000106-HGNC_11005-OMIM_606777-HP_0000006-GENCC_100002"	"HGNC:11005"	"SLC2A1"	"MONDO:0011724"	"encephalopathy due to GLUT1 deficiency"	"OMIM:606777"	"GLUT1 deficiency syndrome 1, infantile onset, severe"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11005"	"SLC2A1"	"OMIM:606777"	"encephalopathy due to GLUT1 deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-10 15:44:56"	""	""	"20129935, 26193382"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC2A10GLUT1def"	"2023-11-30"
"GENCC_000106-HGNC_13446-OMIM_612076-HP_0000007-GENCC_100002"	"HGNC:13446"	"SLC2A9"	"MONDO:0012793"	"hypouricemia, renal, 2"	"OMIM:612076"	"Hypouricemia, renal, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13446"	"SLC2A9"	"OMIM:612076"	"{Uric acid concentration, serum, QTL 2}"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 01:42:04"	""	""	"19706426, 19926891, 21256783, 21536615, 2180765, 22527535, 24397858, 24628802, 25966807"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC2A90Hypouric02"	"2023-11-30"
"GENCC_000106-HGNC_13446-OMIM_612076-HP_0000006-GENCC_100004"	"HGNC:13446"	"SLC2A9"	"MONDO:0012793"	"hypouricemia, renal, 2"	"OMIM:612076"	"Hypouricemia, renal, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13446"	"SLC2A9"	"OMIM:612076"	"{Uric acid concentration, serum, QTL 2}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-09-29 01:42:04"	""	""	"18701466, 19026395, 19706426, 19926891, 22132964, 22527535, 25296721"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC2A90Hypouric0202"	"2023-11-30"
"GENCC_000106-HGNC_1329-OMIM_617595-HP_0000007-GENCC_100002"	"HGNC:1329"	"SLC30A9"	"MONDO:0044726"	"psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"	"OMIM:617595"	"Birk-Landau-Perez syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1329"	"SLC30A9"	"OMIM:617595"	"psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-12 17:02:01"	""	""	"28334855, 34716203, 37041080"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC30A90SLC30A9rel"	"2023-11-30"
"GENCC_000106-HGNC_865-OMIM_619971-HP_0000007-GENCC_100002"	"HGNC:865"	"ATP6V0A1"	"MONDO:0859265"	"neurodevelopmental disorder with epilepsy and brain atrophy"	"OMIM:619971"	"Neurodevelopmental disorder with epilepsy and brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:865"	"ATP6V0A1"	"OMIM:619971"	"Neurodevelopmental disorder with epilepsy and brain atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-05 06:56:21"	""	""	"33833240, 34909687"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP6V0A10EIEE02"	"2023-11-30"
"GENCC_000106-HGNC_11019-OMIM_616963-HP_0000007-GENCC_100002"	"HGNC:11019"	"SLC34A1"	"MONDO:0014851"	"hypercalcemia, infantile, 2"	"OMIM:616963"	"Hypercalcemia, infantile, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11019"	"SLC34A1"	"OMIM:616963"	"hypercalcemia, infantile, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-19 22:24:29"	""	""	"26047794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC34A10Hypercal"	"2023-11-30"
"GENCC_000106-HGNC_11019-OMIM_612286-HP_0000006-GENCC_100004"	"HGNC:11019"	"SLC34A1"	"MONDO:0012850"	"hypophosphatemic nephrolithiasis/osteoporosis 1"	"OMIM:612286"	"Nephrolithiasis/osteoporosis, hypophosphatemic, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11019"	"SLC34A1"	"OMIM:612286"	"hypophosphatemic nephrolithiasis/osteoporosis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-23 08:57:06"	""	""	"12324554, 14672348, 26787776, 30778725"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC34A10Nephroli"	"2023-11-30"
"GENCC_000106-HGNC_17300-OMIM_619972-HP_0000007-GENCC_100002"	"HGNC:17300"	"TAF8"	"MONDO:0859266"	"neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy"	"OMIM:619972"	"Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17300"	"TAF8"	"OMIM:619972"	"Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 19:11:07"	""	""	"244006, 35759269"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAF80Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_18762-OMIM_242600-HP_0000007-GENCC_100004"	"HGNC:18762"	"SLC36A2"	"MONDO:0009448"	"iminoglycinuria"	"OMIM:242600"	"[Iminoglycinuria]"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18762"	"SLC36A2"	"OMIM:242600"	"[Iminoglycinuria]"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-11-04 11:48:11"	""	""	"19033659"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC36A20Iminogly02"	"2023-11-30"
"GENCC_000106-HGNC_6919-OMIM_619975-HP_0000007-GENCC_100002"	"HGNC:6919"	"MBD4"	"MONDO:0859267"	"tumor predisposition syndrome 2"	"OMIM:619975"	"Tumor predisposition syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6919"	"MBD4"	"OMIM:619975"	"Tumor predisposition syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-10 11:46:33"	""	""	"29760383, 30049810, 30714079, 31322271, 32239153, 35381620, 35460607"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MBD40MBD4relcanc"	"2023-11-30"
"GENCC_000106-HGNC_4061-OMIM_232240-HP_0000007-GENCC_100002"	"HGNC:4061"	"SLC37A4"	"MONDO:0009288"	"glycogen storage disease Ib"	"OMIM:232240"	"Glycogen storage disease Ic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4061"	"SLC37A4"	"OMIM:232240"	"glycogen storage disease Ib"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"10940311, 20301489, 21599942, 9758626"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC37A40GSD"	"2023-11-30"
"GENCC_000106-HGNC_18044-OMIM_619881-HP_0000007-GENCC_100002"	"HGNC:18044"	"SLC38A3"	"MONDO:0030881"	"developmental and epileptic encephalopathy 102"	"OMIM:619881"	"Developmental and epileptic encephalopathy 102"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18044"	"SLC38A3"	"OMIM:619881"	"developmental and epileptic encephalopathy 102"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-21 14:06:32"	""	""	"34605855"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC38A30EIEE"	"2023-11-30"
"GENCC_000106-HGNC_20502-OMIM_615946-HP_0000006-GENCC_100004"	"HGNC:20502"	"SLC39A5"	"MONDO:0014411"	"myopia 24, autosomal dominant"	"OMIM:615946"	"Myopia 24, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20502"	"SLC39A5"	"OMIM:615946"	"myopia 24, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 10:29:09"	""	""	"24303081, 24891338, 25525168, 28442722, 31560770, 32215939"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC39A50Myopia24"	"2023-11-30"
"GENCC_000106-HGNC_4927-OMIM_619693-HP_0000007-GENCC_100002"	"HGNC:4927"	"SLC39A7"	"MONDO:0030519"	"agammaglobulinemia 9, autosomal recessive"	"OMIM:619693"	"Agammaglobulinemia 9, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4927"	"SLC39A7"	"OMIM:619693"	"Agammaglobulinemia 9, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-24 11:29:46"	""	""	"10546875, 30718914"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC39A70Agammaglob"	"2023-11-30"
"GENCC_000106-HGNC_19429-OMIM_619468-HP_0000005-GENCC_100004"	"HGNC:19429"	"SLC41A1"	"MONDO:0859175"	"nephronophthisis-like nephropathy 2"	"OMIM:619468"	"?Nephronophthisis-like nephropathy 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19429"	"SLC41A1"	"OMIM:619468"	"?Nephronophthisis-like nephropathy 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-21 10:48:57"	""	""	"23661805"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC41A10Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_17939-OMIM_617532-HP_0000007-GENCC_100002"	"HGNC:17939"	"SLC45A1"	"MONDO:0044322"	"intellectual developmental disorder with neuropsychiatric features"	"OMIM:617532"	"Intellectual developmental disorder with neuropsychiatric features"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17939"	"SLC45A1"	"OMIM:617532"	"intellectual developmental disorder with neuropsychiatric features"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:58:46"	""	""	"27431290, 28434495, 30826922, 34797406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC45A10ID"	"2023-11-30"
"GENCC_000106-HGNC_16472-OMIM_606574-HP_0000007-GENCC_100002"	"HGNC:16472"	"SLC45A2"	"MONDO:0011683"	"oculocutaneous albinism type 4"	"OMIM:606574"	"Albinism, oculocutaneous, type IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16472"	"SLC45A2"	"OMIM:606574"	"oculocutaneous albinism type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-12 20:56:35"	""	""	"14722913, 14961451, 16162179, 17151254, 18463683, 21458243, 26573111, 29345414"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC45A20Albinism"	"2023-11-30"
"GENCC_000106-HGNC_11027-OMIM_179800-HP_0000006-GENCC_100002"	"HGNC:11027"	"SLC4A1"	"MONDO:0008368"	"autosomal dominant distal renal tubular acidosis"	"OMIM:179800"	"Distal renal tubular acidosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11027"	"SLC4A1"	"OMIM:179800"	"autosomal dominant distal renal tubular acidosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:58:57"	""	""	"12750988, 9312167, 9600966"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A10ADRenTubAcid"	"2023-11-30"
"GENCC_000106-HGNC_31690-OMIM_619985-HP_0000005-GENCC_100004"	"HGNC:31690"	"C18orf32"	"MONDO:0859271"	"glycosylphosphatidylinositol biosynthesis defect 25"	"OMIM:619985"	"?Glycosylphosphatidylinositol biosynthesis defect 25"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:31690"	"C18orf32"	"OMIM:619985"	"?Glycosylphosphatidylinositol biosynthesis defect 25"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-08-31 15:56:31"	""	""	"35107634"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C18orf320C18orf32rel"	"2023-11-30"
"GENCC_000106-HGNC_23807-OMIM_619989-HP_0000007-GENCC_100002"	"HGNC:23807"	"THUMPD1"	"MONDO:0859272"	"neurodevelopmental disorder with speech delay and variable ocular anomalies"	"OMIM:619989"	"Neurodevelopmental disorder with speech delay and variable ocular anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23807"	"THUMPD1"	"OMIM:619989"	"Neurodevelopmental disorder with speech delay and variable ocular anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-31 14:57:48"	""	""	"35196516"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THUMPD10THUMPD1dev"	"2023-11-30"
"GENCC_000106-HGNC_25305-OMIM_620001-HP_0000007-GENCC_100002"	"HGNC:25305"	"NSRP1"	"MONDO:0859275"	"neurodevelopmental disorder with spasticity, seizures, and brain abnormalities"	"OMIM:620001"	"Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25305"	"NSRP1"	"OMIM:620001"	"Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-19 11:42:38"	""	""	"34385670"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSRP10NSRP1rel"	"2023-11-30"
"GENCC_000106-HGNC_16438-OMIM_217700-HP_0000007-GENCC_100002"	"HGNC:16438"	"SLC4A11"	"MONDO:0009019"	"congenital hereditary endothelial dystrophy of cornea"	"OMIM:217700"	"Corneal endothelial dystrophy, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16438"	"SLC4A11"	"OMIM:217700"	"congenital hereditary endothelial dystrophy of cornea"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-06 21:00:51"	""	""	"16825429, 17262014, 17397048, 17679935, 36115991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A110CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_16438-OMIM_217400-HP_0000007-GENCC_100002"	"HGNC:16438"	"SLC4A11"	"MONDO:0009015"	"corneal dystrophy-perceptive deafness syndrome"	"OMIM:217400"	"Corneal endothelial dystrophy and perceptive deafness"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16438"	"SLC4A11"	"OMIM:217400"	"corneal dystrophy-perceptive deafness syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-18 07:29:29"	""	""	"17220209, 17679935, 18474783, 24916015"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A110CornealDysDeaf"	"2023-11-30"
"GENCC_000106-HGNC_9369-OMIM_620005-HP_0000005-GENCC_100004"	"HGNC:9369"	"PRIM1"	"MONDO:0859276"	"primordial dwarfism-immunodeficiency-lipodystrophy syndrome"	"OMIM:620005"	"Primordial dwarfism-immunodeficiency-lipodystrophy syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9369"	"PRIM1"	"OMIM:620005"	"Primordial dwarfism-immunodeficiency-lipodystrophy syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-16 20:17:06"	""	""	"33060134"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PRIM10PRIM1rel"	"2023-11-30"
"GENCC_000106-HGNC_29955-OMIM_619484-HP_0000005-GENCC_100004"	"HGNC:29955"	"SLC51A"	"MONDO:0030360"	"cholestasis, progressive familial intrahepatic, 6"	"OMIM:619484"	"?Cholestasis, progressive familial intrahepatic, 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29955"	"SLC51A"	"OMIM:619484"	"?Cholestasis, progressive familial intrahepatic, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-08-10 13:07:52"	""	""	"31863603"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC51A0Cholesta"	"2023-11-30"
"GENCC_000106-HGNC_18711-OMIM_620007-HP_0000005-GENCC_100004"	"HGNC:18711"	"LGI3"	"MONDO:0859277"	"intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects"	"OMIM:620007"	"Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18711"	"LGI3"	"OMIM:620007"	"Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-04 10:04:40"	""	""	"29269699"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LGI30ID"	"2023-11-30"
"GENCC_000106-HGNC_30225-OMIM_615026-HP_0000005-GENCC_100004"	"HGNC:30225"	"SLC52A1"	"MONDO:0004573"	"ariboflavinosis"	"OMIM:615026"	"Riboflavin deficiency"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30225"	"SLC52A1"	"OMIM:615026"	"maternal riboflavin deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-09-25 18:59:53"	""	""	"17689999, 21089064, 29122468, 37510312"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC52A10BVVLS"	"2023-11-30"
"GENCC_000106-HGNC_16187-OMIM_211530-HP_0000007-GENCC_100002"	"HGNC:16187"	"SLC52A3"	"MONDO:0024537"	"Brown-Vialetto-van Laere syndrome 1"	"OMIM:211530"	"Brown-Vialetto-Van Laere syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16187"	"SLC52A3"	"OMIM:211530"	"Brown-Vialetto-van Laere syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:59:28"	""	""	"20206331, 22740598, 22824638, 25462087"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC52A30BVVLS"	"2023-11-30"
"GENCC_000106-HGNC_25786-OMIM_620011-HP_0000007-GENCC_100004"	"HGNC:25786"	"REEP1"	"MONDO:0859279"	"spinal muscular atrophy, distal, autosomal recessive, 6"	"OMIM:620011"	"Neuronopathy, distal hereditary motor, autosomal recessive 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25786"	"REEP1"	"OMIM:620011"	"Neuronopathy, distal hereditary motor, autosomal recessive 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-04 10:09:49"	""	""	"27066569, 31872057, 34193129"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"REEP10SMA"	"2023-11-30"
"GENCC_000106-HGNC_16712-OMIM_620012-HP_0000006-GENCC_100002"	"HGNC:16712"	"FBXW7"	"MONDO:0859280"	"developmental delay, hypotonia, and impaired language"	"OMIM:620012"	"Developmental delay, hypotonia, and impaired language"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16712"	"FBXW7"	"OMIM:620012"	"Developmental delay, hypotonia, and impaired language"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 14:17:58"	""	""	"35395208"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FBXW70FBXW7neurodev"	"2023-11-30"
"GENCC_000106-HGNC_31399-OMIM_616269-HP_0000007-GENCC_100002"	"HGNC:31399"	"SLC6A17"	"MONDO:0014559"	"progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"	"OMIM:616269"	"Intellectual developmental disorder, autosomal recessive 48"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:31399"	"SLC6A17"	"OMIM:616269"	"progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"25704603"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC6A170ID"	"2023-11-30"
"GENCC_000106-HGNC_1937-OMIM_620023-HP_0000007-GENCC_100002"	"HGNC:1937"	"CHKA"	"MONDO:0859282"	"neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"	"OMIM:620023"	"Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1937"	"CHKA"	"OMIM:620023"	"Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 11:44:20"	""	""	"35202461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CHKA0CHKArel"	"2023-11-30"
"GENCC_000106-HGNC_29326-OMIM_615725-HP_0000005-GENCC_100004"	"HGNC:29326"	"SLC7A14"	"MONDO:0014323"	"retinitis pigmentosa 68"	"OMIM:615725"	"Retinitis pigmentosa 68"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29326"	"SLC7A14"	"OMIM:615725"	"retinitis pigmentosa 68"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-08 12:07:44"	""	""	"24670872, 30924391, 31960602"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC7A140RP"	"2023-11-30"
"GENCC_000106-HGNC_17123-OMIM_301024-HP_0000005-GENCC_100004"	"HGNC:17123"	"SLC9A7"	"MONDO:0026723"	"intellectual developmental disorder, X-linked 108"	"OMIM:301024"	"Intellectual developmental disorder, X-linked 108"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17123"	"SLC9A7"	"OMIM:301024"	"intellectual developmental disorder, X-linked 108"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:12"	""	""	"30335141, 33860439, 34356170, 34800434"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC9A70SLC9A7rel"	"2023-11-30"
"GENCC_000106-HGNC_10955-OMIM_614441-HP_0000007-GENCC_100002"	"HGNC:10955"	"SLCO2A1"	"MONDO:0013756"	"hypertrophic osteoarthropathy, primary, autosomal recessive, 2"	"OMIM:614441"	"PHOAR2-enteropathy syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10955"	"SLCO2A1"	"OMIM:614441"	"hypertrophic osteoarthropathy, primary, autosomal recessive, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-02 15:58:34"	""	""	"19956003, 20083684, 22197487, 22331663, 22553128, 23509104"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLCO2A10HOA"	"2023-11-30"
"GENCC_000106-HGNC_9249-OMIM_620024-HP_0000005-GENCC_100004"	"HGNC:9249"	"PPFIBP1"	"MONDO:0859283"	"neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"	"OMIM:620024"	"Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9249"	"PPFIBP1"	"OMIM:620024"	"Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-05 06:52:32"	""	""	"30214071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PPFIBP10PPFIBP1rel"	"2023-11-30"
"GENCC_000106-HGNC_6768-OMIM_619656-HP_0000006-GENCC_100002"	"HGNC:6768"	"SMAD2"	"MONDO:0030500"	"Loeys-Dietz syndrome 6"	"OMIM:619656"	"Loeys-Dietz syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6768"	"SMAD2"	"OMIM:619656"	"Loeys-Dietz syndrome 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:23:28"	""	""	"26247899, 28283438, 29392890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD20LoeysDietz"	"2023-11-30"
"GENCC_000106-HGNC_15472-OMIM_620025-HP_0000007-GENCC_100002"	"HGNC:15472"	"ALDH1A2"	"MONDO:0859571"	"diaphragmatic hernia 4, with cardiovascular defects"	"OMIM:620025"	"Diaphragmatic hernia 4, with cardiovascular defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15472"	"ALDH1A2"	"OMIM:620025"	"Diaphragmatic hernia 4, with cardiovascular defects"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-24 13:31:11"	""	""	"33565183, 36263470"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ALDH1A20DiaPulmCardio"	"2023-11-30"
"GENCC_000106-HGNC_6769-OMIM_613795-HP_0000006-GENCC_100002"	"HGNC:6769"	"SMAD3"	"MONDO:0013426"	"aneurysm-osteoarthritis syndrome"	"OMIM:613795"	"Loeys-Dietz syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6769"	"SMAD3"	"OMIM:613795"	"aneurysm-osteoarthritis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 11:25:08"	""	""	"21778426, 22167769, 24804794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD30LoeysDietz"	"2023-11-30"
"GENCC_000106-HGNC_6770-OMIM_175050-HP_0000006-GENCC_100002"	"HGNC:6770"	"SMAD4"	"MONDO:0008278"	"juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"OMIM:175050"	"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6770"	"SMAD4"	"OMIM:175050"	"juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-10 09:05:48"	""	""	"10455879, 11197776, 11920286, 12136244, 15031030, 15235019, 16613914, 16690726, 16752392, 19762341, 20101697, 20414677, 22316667, 2233136, 24001356, 24525918, 9420335, 9506519, 9545410, 9582123, 9811934"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD40HHT"	"2023-11-30"
"GENCC_000106-HGNC_6770-OMIM_174900-HP_0000006-GENCC_100002"	"HGNC:6770"	"SMAD4"	"MONDO:0017380"	"juvenile polyposis syndrome"	"OMIM:174900"	"Polyposis, juvenile intestinal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6770"	"SMAD4"	"OMIM:174900"	"generalized juvenile polyposis/juvenile polyposis coli"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-15 15:02:14"	""	""	"10455879, 11197776, 11920286, 12136244, 12221036, 15031030, 15235019, 16152648, 16436638, 18178612, 19762341, 20101697, 20685751, 20859198, 22316667, 2233136, 22810475, 22846733, 22965402, 25389115, 25645574, 2705469, 9420335, 9506519, 9545410, 9582123, 9811934, 9869523"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD40JPS"	"2023-11-30"
"GENCC_000106-HGNC_6772-OMIM_614823-HP_0000005-GENCC_100004"	"HGNC:6772"	"SMAD6"	"MONDO:0013902"	"aortic valve disease 2"	"OMIM:614823"	"Aortic valve disease 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6772"	"SMAD6"	"OMIM:614823"	"aortic valve disease 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-01-20 21:53:44"	""	""	"10655064, 22275001, 24896178, 28659821, 28973083, 30056620, 30796334, 30848080"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD60AorticValveDis"	"2023-11-30"
"GENCC_000106-HGNC_6772-OMIM_617439-HP_0000005-GENCC_100004"	"HGNC:6772"	"SMAD6"	"MONDO:0044315"	"craniosynostosis 7"	"OMIM:617439"	"{Craniosynostosis 7, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6772"	"SMAD6"	"OMIM:617439"	"craniosynostosis 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-01-23 19:49:05"	""	""	"10655064, 27606499, 28808027, 29453418, 30038786, 32499606, 33726816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMAD60Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_11100-OMIM_614609-HP_0000006-GENCC_100002"	"HGNC:11100"	"SMARCA4"	"MONDO:0013821"	"intellectual disability, autosomal dominant 16"	"OMIM:614609"	"Coffin-Siris syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11100"	"SMARCA4"	"OMIM:614609"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:18"	""	""	"22426308, 23637025, 23929686, 24700502"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCA40Coff"	"2023-11-30"
"GENCC_000106-HGNC_11100-OMIM_613325-HP_0000006-GENCC_100002"	"HGNC:11100"	"SMARCA4"	"MONDO:0013224"	"rhabdoid tumor predisposition syndrome 2"	"OMIM:613325"	"{Rhabdoid tumor predisposition syndrome 2}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11100"	"SMARCA4"	"OMIM:613325"	"rhabdoid tumor predisposition syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 18:06:27"	""	""	"20137775, 23775540, 24658001, 24658002, 24658004, 24752781, 25060813, 25307865, 25886974, 26975901, 27866340, 28454995, 28620006, 32156746"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCA40SMARCA4relCanc"	"2023-11-30"
"GENCC_000106-HGNC_11103-OMIM_614608-HP_0000006-GENCC_100002"	"HGNC:11103"	"SMARCB1"	"MONDO:0013820"	"intellectual disability, autosomal dominant 15"	"OMIM:614608"	"Coffin-Siris syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11103"	"SMARCB1"	"OMIM:614608"	"intellectual disability, autosomal dominant 15"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-18 07:35:06"	""	""	"22426308, 23906836, 23929686, 28567303, 31530938"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCB10Coff"	"2023-11-30"
"GENCC_000106-HGNC_11103-OMIM_609322-HP_0000006-GENCC_100002"	"HGNC:11103"	"SMARCB1"	"MONDO:0012252"	"rhabdoid tumor predisposition syndrome 1"	"OMIM:609322"	"{Rhabdoid tumor predisposition syndrome 1}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11103"	"SMARCB1"	"OMIM:609322"	"rhabdoid tumor predisposition syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 10:15:36"	""	""	"10521299, 21208904, 22082606, 28111898, 28620005, 29397238, 31004861, 31240424"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCB10SMARCB1relCanc"	"2023-11-30"
"GENCC_000106-HGNC_11104-OMIM_620241-HP_0000006-GENCC_100002"	"HGNC:11104"	"SMARCC1"	"MONDO:0859376"	"hydrocephalus, congenital, 5, susceptibility to"	"OMIM:620241"	"{Hydrocephalus, congenital, 5, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11104"	"SMARCC1"	"OMIM:620241"	"{Hydrocephalus, congenital, 5, susceptibility to}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 16:28:01"	""	""	"29360170, 29983323, 33077954, 37285932"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCC10Hydrocephalus"	"2023-11-30"
"GENCC_000106-HGNC_11109-OMIM_616938-HP_0000006-GENCC_100002"	"HGNC:11109"	"SMARCE1"	"MONDO:0014838"	"Coffin-Siris syndrome 5"	"OMIM:616938"	"Coffin-Siris syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11109"	"SMARCE1"	"OMIM:616938"	"Coffin-Siris syndrome 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-18 07:34:04"	""	""	"22426308, 23906836, 23929686, 27264197, 30499906, 31530938"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMARCE10Coff-Sir0syn"	"2023-11-30"
"GENCC_000106-HGNC_11111-OMIM_300590-HP_0001417-GENCC_100002"	"HGNC:11111"	"SMC1A"	"MONDO:0010370"	"Cornelia de Lange syndrome 2"	"OMIM:300590"	"Cornelia de Lange syndrome 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11111"	"SMC1A"	"OMIM:300590"	"Cornelia de Lange syndrome 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 09:22:29"	""	""	"26358754, 26386245, 27334371, 28166369, 28548707"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMC1A0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_11868-OMIM_620027-HP_0000007-GENCC_100002"	"HGNC:11868"	"TRAPPC10"	"MONDO:0859285"	"neurodevelopmental disorder with microcephaly, short stature, and speech delay"	"OMIM:620027"	"Neurodevelopmental disorder with microcephaly, short stature, and speech delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11868"	"TRAPPC10"	"OMIM:620027"	"Neurodevelopmental disorder with microcephaly, short stature, and speech delay"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-04 12:00:53"	""	""	"30167849, 35298461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAPPC100ID"	"2023-11-30"
"GENCC_000106-HGNC_15751-OMIM_620033-HP_0000007-GENCC_100002"	"HGNC:15751"	"NAPB"	"MONDO:0031055"	"developmental and epileptic encephalopathy 107"	"OMIM:620033"	"Developmental and epileptic encephalopathy 107"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15751"	"NAPB"	"OMIM:620033"	"Developmental and epileptic encephalopathy 107"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-06 15:58:02"	""	""	"26235277, 28097321"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAPB0Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_9537-OMIM_620038-HP_0000005-GENCC_100004"	"HGNC:9537"	"PSMB1"	"MONDO:0859287"	"neurodevelopmental disorder with microcephaly, hypotonia, and absent language"	"OMIM:620038"	"?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9537"	"PSMB1"	"OMIM:620038"	"?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-03 12:02:05"	""	""	"32129449"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSMB10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_11117-OMIM_271150-HP_0000007-GENCC_100002"	"HGNC:11117"	"SMN1"	"MONDO:0010056"	"spinal muscular atrophy, type IV"	"OMIM:271150"	"Spinal muscular atrophy-4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11117"	"SMN1"	"OMIM:271150"	"spinal muscular atrophy, type IV"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"10205265, 14705979, 15378550, 16508748, 18172693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMN10SMA"	"2023-11-30"
"GENCC_000106-HGNC_11120-OMIM_607616-HP_0000007-GENCC_100002"	"HGNC:11120"	"SMPD1"	"MONDO:0011871"	"Niemann-Pick disease type B"	"OMIM:607616"	"Niemann-Pick disease, type B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11120"	"SMPD1"	"OMIM:607616"	"Niemann-Pick disease type B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-06 09:48:57"	""	""	"12369017, 15221801, 17632693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMPD10NiemannPick"	"2023-11-30"
"GENCC_000106-HGNC_3078-OMIM_620044-HP_0000007-GENCC_100002"	"HGNC:3078"	"DUT"	"MONDO:0859288"	"bone marrow failure and diabetes mellitus syndrome"	"OMIM:620044"	"Bone marrow failure and diabetes mellitus syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3078"	"DUT"	"OMIM:620044"	"Bone marrow failure and diabetes mellitus syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-04 12:11:58"	""	""	"28073829, 33456446, 35611808"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DUT0DUTrel"	"2023-11-30"
"GENCC_000106-HGNC_11132-OMIM_616330-HP_0000006-GENCC_100002"	"HGNC:11132"	"SNAP25"	"MONDO:0014590"	"congenital myasthenic syndrome 18"	"OMIM:616330"	"?Myasthenic syndrome, congenital, 18"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11132"	"SNAP25"	"OMIM:616330"	"congenital myasthenic syndrome 18"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:33:14"	""	""	"25381298, 29056461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNAP250CMS"	"2023-11-30"
"GENCC_000106-HGNC_11133-OMIM_609528-HP_0000007-GENCC_100002"	"HGNC:11133"	"SNAP29"	"MONDO:0012290"	"CEDNIK syndrome"	"OMIM:609528"	"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11133"	"SNAP29"	"OMIM:609528"	"CEDNIK syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:57:11"	""	""	"15968592, 21073448, 23231787, 25473036, 26747696"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNAP290Cerebral02"	"2023-11-30"
"GENCC_000106-HGNC_11138-OMIM_127750-HP_0000006-GENCC_100002"	"HGNC:11138"	"SNCA"	"MONDO:0007488"	"Lewy body dementia"	"OMIM:127750"	"Dementia, Lewy body"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11138"	"SNCA"	"OMIM:127750"	"Lewy body dementia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-18 12:55:32"	""	""	"10707987, 14550771, 14755719, 14755720, 15498564, 15632170, 16252002, 20106867, 21252228, 2171555, 21721555, 23210740, 25330418, 9197268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNCA0LewyBody"	"2023-11-30"
"GENCC_000106-HGNC_11138-OMIM_605543-HP_0000006-GENCC_100002"	"HGNC:11138"	"SNCA"	"MONDO:0011562"	"autosomal dominant Parkinson disease 4"	"OMIM:605543"	"Parkinson disease 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11138"	"SNCA"	"OMIM:605543"	"autosomal dominant Parkinson disease 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-01 08:23:20"	""	""	"10707987, 14550771, 14755720, 19139307, 20106867, 21252228, 2171555, 21721555, 23210740, 25330418, 9197268"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNCA0Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_30587-OMIM_614501-HP_0000005-GENCC_100004"	"HGNC:30587"	"SNIP1"	"MONDO:0013787"	"psychomotor retardation, epilepsy, and craniofacial dysmorphism"	"OMIM:614501"	"Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30587"	"SNIP1"	"OMIM:614501"	"psychomotor retardation, epilepsy, and craniofacial dysmorphism"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-28 13:38:13"	""	""	"22279524, 29726122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNIP10SNIP1rel"	"2023-11-30"
"GENCC_000106-HGNC_11161-OMIM_615059-HP_0000006-GENCC_100002"	"HGNC:11161"	"SNRPE"	"MONDO:0014027"	"hypotrichosis 11"	"OMIM:615059"	"Hypotrichosis 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11161"	"SNRPE"	"OMIM:615059"	"hypotrichosis 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-28 16:23:43"	""	""	"23246290, 33792916, 36814386"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNRPE0Hypotric"	"2023-11-30"
"GENCC_000106-HGNC_11167-OMIM_612955-HP_0000006-GENCC_100004"	"HGNC:11167"	"SNTA1"	"MONDO:0013062"	"long QT syndrome 12"	"OMIM:612955"	"Long QT syndrome 12"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11167"	"SNTA1"	"OMIM:612955"	"long QT syndrome 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-04 11:21:33"	""	""	"18591664, 19684871, 19862833, 20009079, 23376825, 24319568, 27028743, 28416588, 28600387, 28837624"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNTA10LongQT"	"2023-11-30"
"GENCC_000106-HGNC_14977-OMIM_616354-HP_0000007-GENCC_100002"	"HGNC:14977"	"SNX14"	"MONDO:0014601"	"autosomal recessive spinocerebellar ataxia 20"	"OMIM:616354"	"Spinocerebellar ataxia, autosomal recessive 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14977"	"SNX14"	"OMIM:616354"	"autosomal recessive spinocerebellar ataxia 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:58:46"	""	""	"25439728, 25848753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SNX140SCAR"	"2023-11-30"
"GENCC_000106-HGNC_29256-OMIM_613671-HP_0000005-GENCC_100004"	"HGNC:29256"	"SOBP"	"MONDO:0013353"	"intellectual disability, anterior maxillary protrusion, and strabismus"	"OMIM:613671"	"?Impaired intellectual development, anterior maxillary protrusion, and strabismus"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29256"	"SOBP"	"OMIM:613671"	"intellectual disability, anterior maxillary protrusion, and strabismus"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"21035105"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOBP0MentalRe011"	"2023-11-30"
"GENCC_000106-HGNC_21625-OMIM_620045-HP_0000007-GENCC_100004"	"HGNC:21625"	"ANO1"	"MONDO:0859289"	"intestinal dysmotility syndrome"	"OMIM:620045"	"?Intestinal dysmotility syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21625"	"ANO1"	"OMIM:620045"	"?Intestinal dysmotility syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-05 07:41:24"	""	""	"32487539"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ANO10ANO1rel"	"2023-11-30"
"GENCC_000106-HGNC_11179-OMIM_105400-HP_0000006-GENCC_100002"	"HGNC:11179"	"SOD1"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"OMIM:105400"	"{?Amyotrophic lateral sclerosis, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11179"	"SOD1"	"OMIM:105400"	"amyotrophic lateral sclerosis type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-02 16:48:04"	""	""	"12442272, 15789135, 17504823, 23280792, 23687121, 26488017, 36316849, 8592323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOD10ALS"	"2023-11-30"
"GENCC_000106-HGNC_11179-OMIM_105400-HP_0000007-GENCC_100002"	"HGNC:11179"	"SOD1"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"OMIM:105400"	"{?Amyotrophic lateral sclerosis, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11179"	"SOD1"	"OMIM:105400"	"amyotrophic lateral sclerosis type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-02 16:48:04"	""	""	"10439968, 11220750, 11602336, 17420412, 17504823, 18319614, 22595972, 23280792, 23687121, 8813280, 9556377, 9706719, 9817920"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOD10ALS02"	"2023-11-30"
"GENCC_000106-HGNC_11179-OMIM_618598-HP_0000007-GENCC_100002"	"HGNC:11179"	"SOD1"	"MONDO:0032828"	"spastic tetraplegia and axial hypotonia, progressive"	"OMIM:618598"	"Spastic tetraplegia and axial hypotonia, progressive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11179"	"SOD1"	"OMIM:618598"	"spastic tetraplegia and axial hypotonia, progressive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-12 20:02:06"	""	""	"31314961, 31332433, 34380534, 34788402"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOD10STAHP"	"2023-11-30"
"GENCC_000106-HGNC_27845-OMIM_617690-HP_0000007-GENCC_100002"	"HGNC:27845"	"SOHLH1"	"MONDO:0054666"	"ovarian dysgenesis 5"	"OMIM:617690"	"Ovarian dysgenesis 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27845"	"SOHLH1"	"OMIM:617690"	"ovarian dysgenesis 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"16690745, 25774885"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOHLH10HypHyp"	"2023-11-30"
"GENCC_000106-HGNC_11184-OMIM_618912-HP_0000007-GENCC_100002"	"HGNC:11184"	"SORD"	"MONDO:0030055"	"neuronopathy, distal hereditary motor, autosomal recessive 8"	"OMIM:618912"	"Neuronopathy, distal hereditary motor, autosomal recessive 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11184"	"SORD"	"OMIM:618912"	"sorbitol dehydrogenase deficiency with peripheral neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-31 14:27:53"	""	""	"32367058"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SORD0Neuropathy"	"2023-11-30"
"GENCC_000106-HGNC_11187-OMIM_135300-HP_0000006-GENCC_100002"	"HGNC:11187"	"SOS1"	"MONDO:0007609"	"fibromatosis, gingival, 1"	"OMIM:135300"	"Fibromatosis, gingival, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11187"	"SOS1"	"OMIM:135300"	"?Fibromatosis, gingival, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-11-16 14:25:39"	""	""	"11868160, 17510059, 26708403, 32773981"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOS10HeredGingFib1"	"2023-11-30"
"GENCC_000106-HGNC_11187-OMIM_610733-HP_0000006-GENCC_100002"	"HGNC:11187"	"SOS1"	"MONDO:0012547"	"Noonan syndrome 4"	"OMIM:610733"	"Noonan syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11187"	"SOS1"	"OMIM:610733"	"Noonan syndrome 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 14:43:09"	""	""	"17143285"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOS10Noonan"	"2023-11-30"
"GENCC_000106-HGNC_10914-OMIM_620068-HP_0000006-GENCC_100002"	"HGNC:10914"	"SLC12A6"	"MONDO:0031068"	"Charcot-Marie-Tooth disease, axonal, IIa 2II"	"OMIM:620068"	"Charcot-Marie-Tooth disease, axonal, type 2II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10914"	"SLC12A6"	"OMIM:620068"	"Charcot-Marie-Tooth disease, axonal, type 2II"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-05 19:12:41"	""	""	"27485015, 31439721"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC12A60CMT"	"2023-11-30"
"GENCC_000106-HGNC_13771-OMIM_269500-HP_0000007-GENCC_100002"	"HGNC:13771"	"SOST"	"MONDO:0010016"	"sclerosteosis 1"	"OMIM:269500"	"Sclerosteosis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13771"	"SOST"	"OMIM:269500"	"sclerosteosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"10330353, 11179006, 11181578, 11836356, 12116252, 13924477, 15965026, 20301406, 23074140, 24594238, 30077757, 6323069, 9463328"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOST0Sclerosteosis"	"2023-11-30"
"GENCC_000106-HGNC_11190-OMIM_611584-HP_0000006-GENCC_100002"	"HGNC:11190"	"SOX10"	"MONDO:0012698"	"Waardenburg syndrome type 2E"	"OMIM:611584"	"Waardenburg syndrome, type 2E, with or without neurologic involvement"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11190"	"SOX10"	"OMIM:611584"	"Waardenburg syndrome type 2E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-08 09:02:42"	""	""	"12189494, 15004559, 20127975, 21965087, 23643381, 24769923, 29678855, 33442024, 33597923, 34142234, 9462749"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX100SOX10rel"	"2023-11-30"
"GENCC_000106-HGNC_18122-OMIM_613674-HP_0000006-GENCC_100004"	"HGNC:18122"	"SOX17"	"MONDO:0013356"	"vesicoureteral reflux 3"	"OMIM:613674"	"Vesicoureteral reflux 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18122"	"SOX17"	"OMIM:613674"	"vesicoureteral reflux 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-19 12:32:39"	""	""	"20960469, 27884173"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX170Vesicour"	"2023-11-30"
"GENCC_000106-HGNC_11194-OMIM_607823-HP_0000007-GENCC_100004"	"HGNC:11194"	"SOX18"	"MONDO:0011914"	"hypotrichosis-lymphedema-telangiectasia syndrome"	"OMIM:607823"	"Hypotrichosis-lymphedema-telangiectasia syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11194"	"SOX18"	"OMIM:607823"	"hypotrichosis-lymphedema-telangiectasia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-29 14:03:21"	""	""	"12740761, 30549413"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX180Hypotric08"	"2023-11-30"
"GENCC_000106-HGNC_11194-OMIM_137940-HP_0000006-GENCC_100002"	"HGNC:11194"	"SOX18"	"MONDO:0019073"	"hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"OMIM:137940"	"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11194"	"SOX18"	"OMIM:137940"	"hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-30 10:07:06"	""	""	"10742113, 12748961, 24697860, 26148450, 26631803"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX180Hypotric0802"	"2023-11-30"
"GENCC_000106-HGNC_11195-OMIM_206900-HP_0000006-GENCC_100002"	"HGNC:11195"	"SOX2"	"MONDO:0008799"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"OMIM:206900"	"Microphthalmia, syndromic 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11195"	"SOX2"	"OMIM:206900"	"anophthalmia/microphthalmia-esophageal atresia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-27 18:33:01"	""	""	"15240551, 16283891, 16470798, 16651659, 16892470, 16932809, 17219395, 17522144, 18285410, 18385794, 18831064, 19921648, 22382802, 24033328, 24498598, 24804704, 29335358, 34562068, 35170016, 36602867"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX20Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_11199-OMIM_312000-HP_0001417-GENCC_100002"	"HGNC:11199"	"SOX3"	"MONDO:0010712"	"panhypopituitarism, X-linked"	"OMIM:312000"	"Panhypopituitarism, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11199"	"SOX3"	"OMIM:312000"	"panhypopituitarism, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:02:15"	""	""	"12428212, 15800844, 21289259, 25064402, 29175558, 30125608, 32429945, 34440302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX30Panhypopituit"	"2023-11-30"
"GENCC_000106-HGNC_11200-OMIM_618506-HP_0000006-GENCC_100002"	"HGNC:11200"	"SOX4"	"MONDO:0032791"	"Coffin-Siris syndrome 10"	"OMIM:618506"	"Coffin-Siris syndrome 10"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11200"	"SOX4"	"OMIM:618506"	"Coffin-Siris syndrome 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:39"	""	""	"30661772"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX40SOX4rel"	"2023-11-30"
"GENCC_000106-HGNC_16421-OMIM_618971-HP_0000006-GENCC_100002"	"HGNC:16421"	"SOX6"	"MONDO:0033544"	"Tolchin-Le Caignec syndrome"	"OMIM:618971"	"Tolchin-Le Caignec syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16421"	"SOX6"	"OMIM:618971"	"Tolchin-Le Caignec syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:43:29"	""	""	"24453155, 25439488, 32442410, 34429528, 36069193, 36118902"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SOX60TLC syndrome"	"2023-11-30"
"GENCC_000106-HGNC_5401-OMIM_235550-HP_0000007-GENCC_100002"	"HGNC:5401"	"SP110"	"MONDO:0009338"	"hepatic veno-occlusive disease-immunodeficiency syndrome"	"OMIM:235550"	"Hepatic venoocclusive disease with immunodeficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:5401"	"SP110"	"OMIM:235550"	"hepatic veno-occlusive disease-immunodeficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:46"	""	""	"16648851, 22621957, 23448538"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SP1100HepaticVeno"	"2023-11-30"
"GENCC_000106-HGNC_24270-OMIM_620070-HP_0000007-GENCC_100002"	"HGNC:24270"	"DPH5"	"MONDO:0859295"	"neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"	"OMIM:620070"	"Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24270"	"DPH5"	"OMIM:620070"	"Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-12 16:33:57"	""	""	"35482014"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPH50DPH5rel"	"2023-11-30"
"GENCC_000106-HGNC_26620-OMIM_619380-HP_0000005-GENCC_100004"	"HGNC:26620"	"SPAG17"	"MONDO:0030307"	"spermatogenic failure 55"	"OMIM:619380"	"?Spermatogenic failure 55"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26620"	"SPAG17"	"OMIM:619380"	"?Spermatogenic failure 55"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-06-21 12:40:43"	""	""	"25877373, 28384719, 28548327, 29174089, 29690537, 30300419, 31999394"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPAG170SPAG17rel"	"2023-11-30"
"GENCC_000106-HGNC_11219-OMIM_616507-HP_0000007-GENCC_100002"	"HGNC:11219"	"SPARC"	"MONDO:0014672"	"osteogenesis imperfecta type 17"	"OMIM:616507"	"Osteogenesis imperfecta, type XVII"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11219"	"SPARC"	"OMIM:616507"	"osteogenesis imperfecta type 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 01:26:47"	""	""	"10749571, 17878319, 26027498, 27509835, 32413570"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPARC0OI"	"2023-11-30"
"GENCC_000106-HGNC_29935-OMIM_102530-HP_0000007-GENCC_100004"	"HGNC:29935"	"SPATA16"	"MONDO:0007060"	"spermatogenic failure 6"	"OMIM:102530"	"?Spermatogenic failure 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29935"	"SPATA16"	"OMIM:102530"	"?Spermatogenic failure 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:56"	""	""	"17847006, 27086357, 282790, 29065458, 31589614, 33877510"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPATA160SpermFail"	"2023-11-30"
"GENCC_000106-HGNC_18119-OMIM_616577-HP_0000007-GENCC_100002"	"HGNC:18119"	"AFG2A"	"MONDO:0014698"	"microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"	"OMIM:616577"	"Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18119"	"AFG2A"	"OMIM:616577"	"microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 12:03:17"	""	""	"26299366"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPATA50Epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_9547-OMIM_620071-HP_0000005-GENCC_100004"	"HGNC:9547"	"PSMC1"	"MONDO:0859296"	"neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss"	"OMIM:620071"	"?Birk-Aharoni syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:9547"	"PSMC1"	"OMIM:620071"	"?Birk-Aharoni syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-01 17:40:24"	""	""	"35861243"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PSMC10PSMC1rel"	"2023-11-30"
"GENCC_000106-HGNC_20423-OMIM_604232-HP_0000007-GENCC_100002"	"HGNC:20423"	"SPATA7"	"MONDO:0011415"	"Leber congenital amaurosis 3"	"OMIM:604232"	"Retinitis pigmentosa 94, variable age at onset, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20423"	"SPATA7"	"OMIM:604232"	"Leber congenital amaurosis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-08 21:28:12"	""	""	"20104588, 21310915, 23847139, 25412400, 26047050, 29178642"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPATA70Leber"	"2023-11-30"
"GENCC_000106-HGNC_29022-OMIM_145410-HP_0000006-GENCC_100002"	"HGNC:29022"	"SPECC1L"	"MONDO:0007779"	"autosomal dominant Opitz G/BBB syndrome"	"OMIM:145410"	"OMIM:145410"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29022"	"SPECC1L"	"OMIM:145410"	"autosomal dominant Opitz G/BBB syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-28 13:52:56"	""	""	"21703590, 25412741, 26111080, 26787558, 29168297, 30472488, 31837199, 31953237, 32386258, 32807111, 32954677, 33527670, 33587123, 35026468, 35305867, 35982160,  :"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPECC1L0SPECC1Lrel"	"2023-11-30"
"GENCC_000106-HGNC_26293-OMIM_618751-HP_0000007-GENCC_100002"	"HGNC:26293"	"SPEF2"	"MONDO:0032898"	"spermatogenic failure 43"	"OMIM:618751"	"Spermatogenic failure 43"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26293"	"SPEF2"	"OMIM:618751"	"spermatogenic failure 43"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-15 11:45:59"	""	""	"31048344, 31151990, 31278745"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPEF20MMAF"	"2023-11-30"
"GENCC_000106-HGNC_30414-OMIM_620075-HP_0000007-GENCC_100002"	"HGNC:30414"	"TMEM147"	"MONDO:0859298"	"neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly"	"OMIM:620075"	"Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30414"	"TMEM147"	"OMIM:620075"	"Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-06 13:19:41"	""	""	"28097321, 28472652, 36044892"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1470TMEM147rel"	"2023-11-30"
"GENCC_000106-HGNC_16901-OMIM_615959-HP_0000007-GENCC_100002"	"HGNC:16901"	"SPEG"	"MONDO:0014418"	"myopathy, centronuclear, 5"	"OMIM:615959"	"Centronuclear myopathy 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16901"	"SPEG"	"OMIM:615959"	"myopathy, centronuclear, 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 10:46:46"	""	""	"19118250, 25087613"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPEG0CNM"	"2023-11-30"
"GENCC_000106-HGNC_17575-OMIM_619312-HP_0000006-GENCC_100002"	"HGNC:17575"	"SPEN"	"MONDO:0859143"	"Radio-Tartaglia syndrome"	"OMIM:619312"	"Radio-Tartaglia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17575"	"SPEN"	"OMIM:619312"	"Radio-Tartaglia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-18 07:14:12"	""	""	"24349473, 24954872, 26345236, 28530678, 33596411"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPEN0SPENrel"	"2023-11-30"
"GENCC_000106-HGNC_11226-OMIM_602099-HP_0000007-GENCC_100002"	"HGNC:11226"	"SPG11"	"MONDO:0011196"	"amyotrophic lateral sclerosis type 5"	"OMIM:602099"	"Amyotrophic lateral sclerosis 5, juvenile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11226"	"SPG11"	"OMIM:602099"	"amyotrophic lateral sclerosis type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:48"	""	""	"20110243, 22154821"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPG110ALS"	"2023-11-30"
"GENCC_000106-HGNC_11226-OMIM_616668-HP_0000007-GENCC_100002"	"HGNC:11226"	"SPG11"	"MONDO:0014726"	"Charcot-Marie-Tooth disease axonal type 2X"	"OMIM:616668"	"Charcot-Marie-Tooth disease, axonal, type 2X"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11226"	"SPG11"	"OMIM:616668"	"Charcot-Marie-Tooth disease axonal type 2X"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 08:38:18"	""	""	"26556829"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPG110CMT"	"2023-11-30"
"GENCC_000106-HGNC_11226-OMIM_604360-HP_0000007-GENCC_100002"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"OMIM:604360"	"Spastic paraplegia 11, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11226"	"SPG11"	"OMIM:604360"	"hereditary spastic paraplegia 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 20:32:01"	""	""	"17322884, 19105190, 20613862, 22801083, 23825025"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPG110SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_11237-OMIM_607259-HP_0000007-GENCC_100002"	"HGNC:11237"	"SPG7"	"MONDO:0011803"	"hereditary spastic paraplegia 7"	"OMIM:607259"	"Spastic paraplegia 7, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11237"	"SPG7"	"OMIM:607259"	"hereditary spastic paraplegia 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-23 12:30:24"	""	""	"14722615, 16357941, 17101804, 20301286, 21623769, 22571692, 22964162, 602783, 9634528, 9635427"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPG70SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_25079-OMIM_620084-HP_0000005-GENCC_100004"	"HGNC:25079"	"CCDC34"	"MONDO:0031077"	"spermatogenic failure 76"	"OMIM:620084"	"Spermatogenic failure 76"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25079"	"CCDC34"	"OMIM:620084"	"Spermatogenic failure 76"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-01 17:39:05"	""	""	"34348960"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CCDC340MMAF"	"2023-11-30"
"GENCC_000106-HGNC_28971-OMIM_619665-HP_0000005-GENCC_100004"	"HGNC:28971"	"SPIDR"	"MONDO:0030506"	"ovarian dysgenesis 9"	"OMIM:619665"	"Ovarian dysgenesis 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:28971"	"SPIDR"	"OMIM:619665"	"ovarian dysgenesis 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-12-21 12:59:18"	""	""	"27967308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPIDR0GonadalFailure"	"2023-11-30"
"GENCC_000106-HGNC_11244-OMIM_167800-HP_0000006-GENCC_100002"	"HGNC:11244"	"SPINK1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11244"	"SPINK1"	"OMIM:167800"	"hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 10:19:24"	""	""	"106202, 14722925, 17274009, 17568390, 17681820, 22572128, 250684"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPINK10Pancreatitis"	"2023-11-30"
"GENCC_000106-HGNC_11245-OMIM_618091-HP_0000007-GENCC_100002"	"HGNC:11245"	"SPINK2"	"MONDO:0054733"	"spermatogenic failure 29"	"OMIM:618091"	"?Spermatogenic failure 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11245"	"SPINK2"	"OMIM:618091"	"?Spermatogenic failure 29"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:11"	""	""	"21705336, 2855494"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPINK20Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_15464-OMIM_256500-HP_0000007-GENCC_100002"	"HGNC:15464"	"SPINK5"	"MONDO:0009735"	"Netherton syndrome"	"OMIM:256500"	"Netherton syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15464"	"SPINK5"	"OMIM:256500"	"Netherton syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-28 18:05:52"	""	""	"11511292, 11841556, 15466487, 15590704, 15619623, 20657595"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPINK50Netherton"	"2023-11-30"
"GENCC_000106-HGNC_11247-OMIM_270420-HP_0000007-GENCC_100002"	"HGNC:11247"	"SPINT2"	"MONDO:0010036"	"congenital secretory sodium diarrhea 3"	"OMIM:270420"	"Diarrhea 3, secretory sodium, congenital, syndromic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11247"	"SPINT2"	"OMIM:270420"	"congenital secretory sodium diarrhea 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-08 09:39:54"	""	""	"19185281, 24142340, 28716867, 30445423"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPINT20SynCongSodDiarr"	"2023-11-30"
"GENCC_000106-HGNC_26992-OMIM_618457-HP_0000005-GENCC_100004"	"HGNC:26992"	"SPNS2"	"MONDO:0032762"	"hearing loss, autosomal recessive 115"	"OMIM:618457"	"?Deafness, autosomal recessive 115"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26992"	"SPNS2"	"OMIM:618457"	"hearing loss, autosomal recessive 115"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-12-15 21:42:55"	""	""	"25356849, 30973865, 31785789, 36494063"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPNS20SPNS2rel"	"2023-11-30"
"GENCC_000106-HGNC_11254-OMIM_618828-HP_0000006-GENCC_100002"	"HGNC:11254"	"SPOP"	"MONDO:0032942"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"OMIM:618828"	"Nabais Sa-de Vries syndrome, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11254"	"SPOP"	"OMIM:618828"	"neurodevelopmental disorder with microcephaly and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-08 18:40:53"	""	""	"24796539, 32109420"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPOP0SPOPrel"	"2023-11-30"
"GENCC_000106-HGNC_25094-OMIM_620086-HP_0000006-GENCC_100002"	"HGNC:25094"	"MTSS2"	"MONDO:0859303"	"intellectual developmental disorder with ocular anomalies and distinctive facial features"	"OMIM:620086"	"Intellectual developmental disorder with ocular anomalies and distinctive facial features"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25094"	"MTSS2"	"OMIM:620086"	"Intellectual developmental disorder with ocular anomalies and distinctive facial features"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-05 19:10:59"	""	""	"25558065, 36067766"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MTSS1L0MTSS1Lrel"	"2023-11-30"
"GENCC_000106-HGNC_6556-OMIM_620089-HP_0000007-GENCC_100002"	"HGNC:6556"	"LETM1"	"MONDO:0859304"	"neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction"	"OMIM:620089"	"Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:6556"	"LETM1"	"OMIM:620089"	"Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-01 16:15:05"	""	""	"26960370, 27287194, 30378700, 30773800, 36055214"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LETM10LETM1rel"	"2023-11-30"
"GENCC_000106-HGNC_20249-OMIM_611431-HP_0000006-GENCC_100002"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"OMIM:611431"	"Legius syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20249"	"SPRED1"	"OMIM:611431"	"Legius syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-10-23 11:53:04"	""	""	"17704776"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPRED10Legius"	"2023-11-30"
"GENCC_000106-HGNC_17722-OMIM_619745-HP_0000007-GENCC_100002"	"HGNC:17722"	"SPRED2"	"MONDO:0030679"	"Noonan syndrome 14"	"OMIM:619745"	"Noonan syndrome 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17722"	"SPRED2"	"OMIM:619745"	"Noonan syndrome 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-11 22:57:26"	""	""	"34626534, 36608738"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPRED20Noonan"	"2023-11-30"
"GENCC_000106-HGNC_25356-OMIM_616200-HP_0000007-GENCC_100004"	"HGNC:25356"	"SPRTN"	"MONDO:0014527"	"progeroid features-hepatocellular carcinoma predisposition syndrome"	"OMIM:616200"	"Ruijs-Aalfs syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25356"	"SPRTN"	"OMIM:616200"	"progeroid features-hepatocellular carcinoma predisposition syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:55"	""	""	"25261934, 31191205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPRTN0Ruijs-Aa"	"2023-11-30"
"GENCC_000106-HGNC_11270-OMIM_616818-HP_0000005-GENCC_100004"	"HGNC:11270"	"SPRY2"	"MONDO:0014786"	"IgA nephropathy, susceptibility to, 3"	"OMIM:616818"	"{?IgA nephropathy, susceptibility to, 3}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11270"	"SPRY2"	"OMIM:616818"	"IgA nephropathy, susceptibility to, 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-07 18:19:41"	""	""	"25782674"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPRY20IgAneph"	"2023-11-30"
"GENCC_000106-HGNC_15533-OMIM_615266-HP_0000005-GENCC_100004"	"HGNC:15533"	"SPRY4"	"MONDO:0014102"	"hypogonadotropic hypogonadism 17 with or without anosmia"	"OMIM:615266"	"Hypogonadotropic hypogonadism 17 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15533"	"SPRY4"	"OMIM:615266"	"hypogonadotropic hypogonadism 17 with or without anosmia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-14 14:59:29"	""	""	"23643382, 282718, 31200363, 31781046"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPRY40Hypogona"	"2023-11-30"
"GENCC_000106-HGNC_11272-OMIM_266140-HP_0000007-GENCC_100002"	"HGNC:11272"	"SPTA1"	"MONDO:0009948"	"pyropoikilocytosis, hereditary"	"OMIM:266140"	"Pyropoikilocytosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11272"	"SPTA1"	"OMIM:266140"	"Pyropoikilocytosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-22 14:47:58"	""	""	"1541680, 18815189, 23241237, 9192783"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTA10Pyropoik"	"2023-11-30"
"GENCC_000106-HGNC_11272-OMIM_270970-HP_0000007-GENCC_100002"	"HGNC:11272"	"SPTA1"	"MONDO:0010053"	"hereditary spherocytosis type 3"	"OMIM:270970"	"Spherocytosis, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11272"	"SPTA1"	"OMIM:270970"	"hereditary spherocytosis type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 14:30:00"	""	""	"15384986, 24895341, 31333484, 8941647"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTA10Spherocytosis"	"2023-11-30"
"GENCC_000106-HGNC_11273-OMIM_613477-HP_0000006-GENCC_100002"	"HGNC:11273"	"SPTAN1"	"MONDO:0013277"	"developmental and epileptic encephalopathy, 5"	"OMIM:613477"	"Developmental and epileptic encephalopathy 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11273"	"SPTAN1"	"OMIM:613477"	"developmental and epileptic encephalopathy, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:31:12"	""	""	"20493457, 2215941, 22258530, 22656320, 22722545, 26077850, 29050398, 29186148, 29337302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTAN10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_28214-OMIM_620094-HP_0000006-GENCC_100002"	"HGNC:28214"	"FRMD5"	"MONDO:0859305"	"neurodevelopmental disorder with eye movement abnormalities and ataxia"	"OMIM:620094"	"Neurodevelopmental disorder with eye movement abnormalities and ataxia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28214"	"FRMD5"	"OMIM:620094"	"Neurodevelopmental disorder with eye movement abnormalities and ataxia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-01 15:50:43"	""	""	"31785789, 36206744"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FRMD50EIEE"	"2023-11-30"
"GENCC_000106-HGNC_11275-OMIM_619475-HP_0000006-GENCC_100002"	"HGNC:11275"	"SPTBN1"	"MONDO:0859178"	"developmental delay, impaired speech, and behavioral abnormalities"	"OMIM:619475"	"Developmental delay, impaired speech, and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11275"	"SPTBN1"	"OMIM:619475"	"Developmental delay, impaired speech, and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-15 12:43:29"	""	""	"25363768, 28191890, 33847457, 34211179"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTBN10Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_1539-OMIM_620099-HP_0000006-GENCC_100002"	"HGNC:1539"	"CBFB"	"MONDO:0859307"	"cleidocranial dysplasia 2"	"OMIM:620099"	"Cleidocranial dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1539"	"CBFB"	"OMIM:620099"	"Cleidocranial dysplasia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-01 16:17:04"	""	""	"36241386"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CBFB0Cleidocrandys"	"2023-11-30"
"GENCC_000106-HGNC_11276-OMIM_615386-HP_0000007-GENCC_100002"	"HGNC:11276"	"SPTBN2"	"MONDO:0014159"	"autosomal recessive spinocerebellar ataxia 14"	"OMIM:615386"	"Spinocerebellar ataxia, autosomal recessive 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11276"	"SPTBN2"	"OMIM:615386"	"autosomal recessive spinocerebellar ataxia 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23236289, 23838597, 28636205"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTBN20SCAR"	"2023-11-30"
"GENCC_000106-HGNC_18286-OMIM_620102-HP_0000007-GENCC_100002"	"HGNC:18286"	"RAX2"	"MONDO:0859308"	"retinitis pigmentosa 95"	"OMIM:620102"	"Retinitis pigmentosa 95"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18286"	"RAX2"	"OMIM:620102"	"Retinitis pigmentosa 95"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-01 16:15:57"	""	""	"30377383"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RAX20RP"	"2023-11-30"
"GENCC_000106-HGNC_14530-OMIM_620104-HP_0000006-GENCC_100002"	"HGNC:14530"	"SP6"	"MONDO:0031084"	"amelogenesis imperfecta, IIa 1K"	"OMIM:620104"	"Amelogenesis imperfecta, type IK"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14530"	"SP6"	"OMIM:620104"	"Amelogenesis imperfecta, type IK"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 07:45:10"	""	""	"18297738, 32167558, 33652941"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SP60AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_6396-OMIM_620106-HP_0000006-GENCC_100002"	"HGNC:6396"	"KPNA3"	"MONDO:0859309"	"spastic paraplegia 88, autosomal dominant"	"OMIM:620106"	"Spastic paraplegia 88, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6396"	"KPNA3"	"OMIM:620106"	"Spastic paraplegia 88, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-15 13:40:32"	""	""	"22960338"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KPNA30KPNA3rel"	"2023-11-30"
"GENCC_000106-HGNC_23136-OMIM_620107-HP_0000007-GENCC_100002"	"HGNC:23136"	"SCNM1"	"MONDO:0859310"	"orofaciodigital syndrome 19"	"OMIM:620107"	"Orofaciodigital syndrome XIX"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23136"	"SCNM1"	"OMIM:620107"	"Orofaciodigital syndrome XIX"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 08:11:13"	""	""	"36084634"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCNM10OFD"	"2023-11-30"
"GENCC_000106-HGNC_6182-OMIM_620111-HP_0000006-GENCC_100004"	"HGNC:6182"	"ITPR3"	"MONDO:0859311"	"Charcot-Marie-Tooth disease, demyelinating, type 1J"	"OMIM:620111"	"Charcot-Marie-Tooth disease, demyelinating, type 1J"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6182"	"ITPR3"	"OMIM:620111"	"Charcot-Marie-Tooth disease, demyelinating, type 1J"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-17 21:50:11"	""	""	"24627108, 27549087, 32949214"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ITPR30PeriphNeurop"	"2023-11-30"
"GENCC_000106-HGNC_11280-OMIM_616437-HP_0000006-GENCC_100002"	"HGNC:11280"	"SQSTM1"	"MONDO:0014640"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"OMIM:616437"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11280"	"SQSTM1"	"OMIM:616437"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 13:44:54"	""	""	"22084127, 22972638, 23303844, 23417734, 23812289, 23942205, 24042580, 24138988, 24486447, 25382069, 25708934, 29411640, 29895397, 30954774, 31475037, 31859009"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SQSTM10ALS"	"2023-11-30"
"GENCC_000106-HGNC_11280-OMIM_167250-HP_0000006-GENCC_100002"	"HGNC:11280"	"SQSTM1"	"MONDO:0008176"	"Paget disease of bone 3"	"OMIM:167250"	"Paget disease of bone 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11280"	"SQSTM1"	"OMIM:167250"	"Paget disease of bone 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-06 09:01:59"	""	""	"11992264, 12374763, 14584883, 16813535, 17187080, 19049332, 22491873, 24486447, 24642144"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SQSTM10IBMPFD"	"2023-11-30"
"GENCC_000106-HGNC_11280-OMIM_617145-HP_0000007-GENCC_100002"	"HGNC:11280"	"SQSTM1"	"MONDO:0014940"	"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"OMIM:617145"	"Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11280"	"SQSTM1"	"OMIM:617145"	"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-08-23 12:48:24"	""	""	"27545679, 29959261"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SQSTM10NADGP"	"2023-11-30"
"GENCC_000106-HGNC_1396-OMIM_620114-HP_0000006-GENCC_100002"	"HGNC:1396"	"CACNA1I"	"MONDO:0859313"	"neurodevelopmental disorder with speech impairment and with or without seizures"	"OMIM:620114"	"Neurodevelopmental disorder with speech impairment and with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1396"	"CACNA1I"	"OMIM:620114"	"Neurodevelopmental disorder with speech impairment and with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 15:46:37"	""	""	"33704440"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CACNA1I0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_16974-OMIM_136140-HP_0000006-GENCC_100002"	"HGNC:16974"	"SRCAP"	"MONDO:0007621"	"Floating-Harbor syndrome"	"OMIM:136140"	"Floating-Harbor syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16974"	"SRCAP"	"OMIM:136140"	"Floating-Harbor syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-06 14:40:29"	""	""	"17617668, 2051457, 22265015, 22965468, 23621943, 25433523, 33909990"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRCAP0FHS"	"2023-11-30"
"GENCC_000106-HGNC_19036-OMIM_620115-HP_0000006-GENCC_100002"	"HGNC:19036"	"MAST3"	"MONDO:0859314"	"developmental and epileptic encephalopathy 108"	"OMIM:620115"	"Developmental and epileptic encephalopathy 108"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19036"	"MAST3"	"OMIM:620115"	"Developmental and epileptic encephalopathy 108"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 14:51:58"	""	""	"34185323"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MAST30EIEE"	"2023-11-30"
"GENCC_000106-HGNC_25812-OMIM_612379-HP_0000007-GENCC_100002"	"HGNC:25812"	"SRD5A3"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"OMIM:612379"	"Congenital disorder of glycosylation, type Iq"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25812"	"SRD5A3"	"OMIM:612379"	"SRD5A3-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-13 15:35:13"	""	""	"20637498, 20700148, 20852264, 21937992, 22240719, 22304929, 24433453, 27480077, 31638560"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRD5A30SRD5A3CDG"	"2023-11-30"
"GENCC_000106-HGNC_11289-OMIM_619016-HP_0000006-GENCC_100002"	"HGNC:11289"	"SREBF1"	"MONDO:0100221"	"IFAP syndrome 2"	"OMIM:619016"	"Ichthyosis, follicular, with atrichia and photophobia syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11289"	"SREBF1"	"OMIM:619016"	"IFAP syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-14 09:08:29"	""	""	"31790666, 32497488"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SREBF10IfapSynd"	"2023-11-30"
"GENCC_000106-HGNC_17641-OMIM_620133-HP_0000005-GENCC_100004"	"HGNC:17641"	"DCLRE1B"	"MONDO:0859319"	"dyskeratosis congenita, autosomal recessive 8"	"OMIM:620133"	"Dyskeratosis congenita, autosomal recessive 8"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17641"	"DCLRE1B"	"OMIM:620133"	"Dyskeratosis congenita, autosomal recessive 8"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-08-03 20:15:43"	""	""	"20479256, 35007328"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DCLRE1B0DKC"	"2023-11-30"
"GENCC_000106-HGNC_11303-OMIM_614675-HP_0000006-GENCC_100002"	"HGNC:11303"	"SRP72"	"MONDO:0013851"	"autosomal dominant aplasia and myelodysplasia"	"OMIM:614675"	"Bone marrow failure syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11303"	"SRP72"	"OMIM:614675"	"autosomal dominant aplasia and myelodysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:39"	""	""	"22541560, 29146883, 31254415"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRP720BMF"	"2023-11-30"
"GENCC_000106-HGNC_30668-OMIM_300643-HP_0001417-GENCC_100004"	"HGNC:30668"	"SRPX2"	"MONDO:0010388"	"rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked"	"OMIM:300643"	"?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:30668"	"SRPX2"	"OMIM:300643"	"rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:09"	""	""	"23352160, 25167861, 25533962, 28440294, 30393191"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRPX20XLID"	"2023-11-30"
"GENCC_000106-HGNC_12590-OMIM_620137-HP_0000005-GENCC_100004"	"HGNC:12590"	"UQCRH"	"MONDO:0859321"	"mitochondrial complex 3 deficiency, nuclear type 11"	"OMIM:620137"	"?Mitochondrial complex III deficiency, nuclear type 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12590"	"UQCRH"	"OMIM:620137"	"?Mitochondrial complex III deficiency, nuclear type 11"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-14 21:10:25"	""	""	"34750991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UQCRH0UQCRHrel"	"2023-11-30"
"GENCC_000106-HGNC_21355-OMIM_620138-HP_0000007-GENCC_100002"	"HGNC:21355"	"MLIP"	"MONDO:0859322"	"myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis"	"OMIM:620138"	"Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21355"	"MLIP"	"OMIM:620138"	"Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 15:31:53"	""	""	"34581780, 34935254"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MLIP0MLIPrelMyo"	"2023-11-30"
"GENCC_000106-HGNC_10866-OMIM_615006-HP_0000007-GENCC_100002"	"HGNC:10866"	"ST3GAL3"	"MONDO:0014003"	"developmental and epileptic encephalopathy, 15"	"OMIM:615006"	"Developmental and epileptic encephalopathy 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10866"	"ST3GAL3"	"OMIM:615006"	"developmental and epileptic encephalopathy, 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 11:56:08"	""	""	"21907012, 23252400, 31584066"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ST3GAL30EIEE"	"2023-11-30"
"GENCC_000106-HGNC_11355-OMIM_301022-HP_0001417-GENCC_100002"	"HGNC:11355"	"STAG2"	"MONDO:0026722"	"Mullegama-Klein-Martinez syndrome"	"OMIM:301022"	"Mullegama-Klein-Martinez syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11355"	"STAG2"	"OMIM:301022"	"Mullegama-Klein-Martinez syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-16 13:49:11"	""	""	"28296084, 30951195"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAG20STAG2rel"	"2023-11-30"
"GENCC_000106-HGNC_11356-OMIM_619672-HP_0000007-GENCC_100004"	"HGNC:11356"	"STAG3"	"MONDO:0030507"	"spermatogenic failure 61"	"OMIM:619672"	"Spermatogenic failure 61"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11356"	"STAG3"	"OMIM:619672"	"Spermatogenic failure 61"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-02-24 10:09:37"	""	""	"24608227, 250762, 251480, 251490, 31125047, 31682730, 32634216, 32741963, 33980954, 35176428"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAG30Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_11356-OMIM_615723-HP_0000007-GENCC_100002"	"HGNC:11356"	"STAG3"	"MONDO:0014321"	"premature ovarian failure 8"	"OMIM:615723"	"Premature ovarian failure 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11356"	"STAG3"	"OMIM:615723"	"Premature ovarian failure 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-14 11:20:48"	""	""	"24597867, 251340, 251410, 251446, 26059840, 28802712, 28914264, 30006057, 31363903, 417053214"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAG30Prematur"	"2023-11-30"
"GENCC_000106-HGNC_11362-OMIM_614162-HP_0000006-GENCC_100002"	"HGNC:11362"	"STAT1"	"MONDO:0013599"	"autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"	"OMIM:614162"	"Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11362"	"STAT1"	"OMIM:614162"	"autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-04 16:40:25"	""	""	"21727188"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT10Candidiasis"	"2023-11-30"
"GENCC_000106-HGNC_11362-OMIM_613796-HP_0000007-GENCC_100002"	"HGNC:11362"	"STAT1"	"MONDO:0013427"	"immunodeficiency 31B"	"OMIM:613796"	"Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11362"	"STAT1"	"OMIM:613796"	"immunodeficiency 31B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 10:42:23"	""	""	"12590259, 16585605, 190841505, 22651901"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT10IMD31AB"	"2023-11-30"
"GENCC_000106-HGNC_11362-OMIM_614892-HP_0000006-GENCC_100002"	"HGNC:11362"	"STAT1"	"MONDO:0013956"	"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"	"OMIM:614892"	"Immunodeficiency 31A, mycobacteriosis, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11362"	"STAT1"	"OMIM:614892"	"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-02 14:12:25"	""	""	"22573496"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT10MSMD"	"2023-11-30"
"GENCC_000106-HGNC_25187-OMIM_620139-HP_0000007-GENCC_100002"	"HGNC:25187"	"TAMM41"	"MONDO:0859323"	"combined oxidative phosphorylation deficiency 56"	"OMIM:620139"	"Combined oxidative phosphorylation deficiency 56"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25187"	"TAMM41"	"OMIM:620139"	"Combined oxidative phosphorylation deficiency 56"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-14 21:13:38"	""	""	"35321494"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAMM410OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_707-OMIM_620141-HP_0000006-GENCC_100002"	"HGNC:707"	"ARPC4"	"MONDO:0859324"	"developmental delay, language impairment, and ocular abnormalities"	"OMIM:620141"	"Developmental delay, language impairment, and ocular abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:707"	"ARPC4"	"OMIM:620141"	"Developmental delay, language impairment, and ocular abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-14 14:32:41"	""	""	"35047857"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ARPC40ARPC4rel"	"2023-11-30"
"GENCC_000106-HGNC_11364-OMIM_147060-HP_0000006-GENCC_100002"	"HGNC:11364"	"STAT3"	"MONDO:0007818"	"hyper-IgE recurrent infection syndrome 1, autosomal dominant"	"OMIM:147060"	"Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11364"	"STAT3"	"OMIM:147060"	"hyper-IgE recurrent infection syndrome 1, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 22:24:24"	""	""	"17676033"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT30HyperIgEinf"	"2023-11-30"
"GENCC_000106-HGNC_11364-OMIM_615952-HP_0000006-GENCC_100002"	"HGNC:11364"	"STAT3"	"MONDO:0014414"	"STAT3-related early-onset multisystem autoimmune disease"	"OMIM:615952"	"Autoimmune disease, multisystem, infantile-onset, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11364"	"STAT3"	"OMIM:615952"	"STAT3-related early-onset multisystem autoimmune disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-16 20:12:51"	""	""	"25038750"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT30STAT3GOF"	"2023-11-30"
"GENCC_000106-HGNC_11367-OMIM_245590-HP_0000007-GENCC_100002"	"HGNC:11367"	"STAT5B"	"MONDO:0100211"	"growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	"OMIM:245590"	"Growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11367"	"STAT5B"	"OMIM:245590"	"growth hormone insensitivity with immune dysregulation 1, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-03-07 14:55:59"	""	""	"15827093, 16787985, 17030597, 20538865, 25753012"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STAT5B0GHI"	"2023-11-30"
"GENCC_000106-HGNC_24824-OMIM_620145-HP_0000006-GENCC_100002"	"HGNC:24824"	"FZR1"	"MONDO:0859325"	"developmental and epileptic encephalopathy 109"	"OMIM:620145"	"Developmental and epileptic encephalopathy 109"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24824"	"FZR1"	"OMIM:620145"	"Developmental and epileptic encephalopathy 109"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 21:01:35"	""	""	"31318984, 34788397"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"FZR10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_24592-OMIM_615234-HP_0000006-GENCC_100004"	"HGNC:24592"	"STEAP3"	"MONDO:0014094"	"severe congenital hypochromic anemia with ringed sideroblasts"	"OMIM:615234"	"?Anemia, hypochromic microcytic, with iron overload 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:24592"	"STEAP3"	"OMIM:615234"	"severe congenital hypochromic anemia with ringed sideroblasts"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"22031863, 29779353, 31350307"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STEAP30?Anemia,"	"2023-11-30"
"GENCC_000106-HGNC_19903-OMIM_620152-HP_0000006-GENCC_100002"	"HGNC:19903"	"RRAGD"	"MONDO:0859328"	"hypomagnesemia 7, renal, with or without dilated cardiomyopathy"	"OMIM:620152"	"Hypomagnesemia 7, renal, with or without dilated cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19903"	"RRAGD"	"OMIM:620152"	"Hypomagnesemia 7, renal, with or without dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-07 20:03:21"	""	""	"34607910"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RRAGD0Tubulopathy"	"2023-11-30"
"GENCC_000106-HGNC_11386-OMIM_160565-HP_0000006-GENCC_100002"	"HGNC:11386"	"STIM1"	"MONDO:0024531"	"myopathy, tubular aggregate, 1"	"OMIM:160565"	"Myopathy, tubular aggregate, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11386"	"STIM1"	"OMIM:160565"	"myopathy, tubular aggregate, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-17 20:26:35"	""	""	"17965774, 22154366, 23332920, 25326555"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STIM10TAM"	"2023-11-30"
"GENCC_000106-HGNC_17209-OMIM_619436-HP_0000007-GENCC_100004"	"HGNC:17209"	"STK36"	"MONDO:0030332"	"ciliary dyskinesia, primary, 46"	"OMIM:619436"	"?Ciliary dyskinesia, primary, 46"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17209"	"STK36"	"OMIM:619436"	"?Ciliary dyskinesia, primary, 46"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-08-04 09:27:38"	""	""	"28543983"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STK360PCD"	"2023-11-30"
"GENCC_000106-HGNC_11408-OMIM_614868-HP_0000007-GENCC_100002"	"HGNC:11408"	"STK4"	"MONDO:0013934"	"combined immunodeficiency due to STK4 deficiency"	"OMIM:614868"	"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11408"	"STK4"	"OMIM:614868"	"combined immunodeficiency due to STK4 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-14 14:22:49"	""	""	"22174160, 22952854"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STK40CID"	"2023-11-30"
"GENCC_000106-HGNC_20226-OMIM_620156-HP_0000007-GENCC_100002"	"HGNC:20226"	"KIF26A"	"MONDO:0859332"	"cortical dysplasia, complex, with other brain malformations 11"	"OMIM:620156"	"Cortical dysplasia, complex, with other brain malformations 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20226"	"KIF26A"	"OMIM:620156"	"Cortical dysplasia, complex, with other brain malformations 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 21:03:34"	""	""	"36228617, 36564622"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KIF26A0KIF26Arel"	"2023-11-30"
"GENCC_000106-HGNC_30611-OMIM_615597-HP_0000005-GENCC_100004"	"HGNC:30611"	"STT3B"	"MONDO:0014271"	"STT3B-congenital disorder of glycosylation"	"OMIM:615597"	"Congenital disorder of glycosylation, type Ix"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30611"	"STT3B"	"OMIM:615597"	"STT3B-congenital disorder of glycosylation"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:45"	""	""	"182205, 2382455, 23842455, 28191890, 28820871, 32253875, 611499"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STT3B0STT3BCDG"	"2023-11-30"
"GENCC_000106-HGNC_11427-OMIM_618093-HP_0000006-GENCC_100002"	"HGNC:11427"	"STUB1"	"MONDO:0032526"	"spinocerebellar ataxia 48"	"OMIM:618093"	"Spinocerebellar ataxia 48"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11427"	"STUB1"	"OMIM:618093"	"spinocerebellar ataxia 48"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 19:26:54"	""	""	"30381368, 31571321, 32211513, 32337344"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STUB10SCA"	"2023-11-30"
"GENCC_000106-HGNC_11427-OMIM_615768-HP_0000007-GENCC_100002"	"HGNC:11427"	"STUB1"	"MONDO:0014339"	"autosomal recessive spinocerebellar ataxia 16"	"OMIM:615768"	"Spinocerebellar ataxia, autosomal recessive 16"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11427"	"STUB1"	"OMIM:615768"	"autosomal recessive spinocerebellar ataxia 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-30 07:50:32"	""	""	"24113144, 24312598, 24312698, 24742043, 25258038, 25592071, 28193273"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STUB10SCAR"	"2023-11-30"
"GENCC_000106-HGNC_7952-OMIM_620158-HP_0000006-GENCC_100002"	"HGNC:7952"	"NPTX1"	"MONDO:0859334"	"spinocerebellar ataxia 50"	"OMIM:620158"	"Spinocerebellar ataxia 50"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7952"	"NPTX1"	"OMIM:620158"	"Spinocerebellar ataxia 50"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-08 22:26:30"	""	""	"34788392, 35285082, 35288776, 35560436"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NPTX10ADCA"	"2023-11-30"
"GENCC_000106-HGNC_11444-OMIM_612164-HP_0000006-GENCC_100002"	"HGNC:11444"	"STXBP1"	"MONDO:0012812"	"developmental and epileptic encephalopathy, 4"	"OMIM:612164"	"Developmental and epileptic encephalopathy 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11444"	"STXBP1"	"OMIM:612164"	"developmental and epileptic encephalopathy, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 17:48:41"	""	""	"20887364, 21364700, 24623842, 25418441, 26384463, 26865513, 27184330, 29929108, 35937496"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"STXBP10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_11944-OMIM_620161-HP_0000005-GENCC_100004"	"HGNC:11944"	"TNNC2"	"MONDO:0859335"	"congenital myopathy 15"	"OMIM:620161"	"Congenital myopathy 15"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11944"	"TNNC2"	"OMIM:620161"	"Congenital myopathy 15"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-07 19:57:03"	""	""	"33755597"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNC20TNNC2rel"	"2023-11-30"
"GENCC_000106-HGNC_16466-OMIM_617757-HP_0000007-GENCC_100002"	"HGNC:16466"	"SUFU"	"MONDO:0033309"	"Joubert syndrome 32"	"OMIM:617757"	"Joubert syndrome 32"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16466"	"SUFU"	"OMIM:617757"	"Joubert syndrome 32"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:04"	""	""	"28965847"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUFU0Joubert"	"2023-11-30"
"GENCC_000106-HGNC_16466-OMIM_155255-HP_0000006-GENCC_100002"	"HGNC:16466"	"SUFU"	"MONDO:0007959"	"medulloblastoma"	"OMIM:155255"	"{Medulloblastoma}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16466"	"SUFU"	"OMIM:155255"	"medulloblastoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"22508808, 29186568"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUFU0Medulloblastoma"	"2023-11-30"
"GENCC_000106-HGNC_11459-OMIM_617571-HP_0000007-GENCC_100002"	"HGNC:11459"	"SULT2B1"	"MONDO:0033091"	"ichthyosis, congenital, autosomal recessive 14"	"OMIM:617571"	"Ichthyosis, congenital, autosomal recessive 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11459"	"SULT2B1"	"OMIM:617571"	"ichthyosis, congenital, autosomal recessive 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:03"	""	""	"227592, 248678, 28575648, 30578701"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SULT2B10ARCI"	"2023-11-30"
"GENCC_000106-HGNC_12502-OMIM_613705-HP_0000005-GENCC_100004"	"HGNC:12502"	"SUMO1"	"MONDO:0013378"	"orofacial cleft 10"	"OMIM:613705"	"?Orofacial cleft 10"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12502"	"SUMO1"	"OMIM:613705"	"?Orofacial cleft 10"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"16990542, 19137569"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SUMO10Orofacia02"	"2023-11-30"
"GENCC_000106-HGNC_4431-OMIM_620166-HP_0000005-GENCC_100004"	"HGNC:4431"	"GOSR2"	"MONDO:0859336"	"muscular dystrophy, congenital, with or without seizures"	"OMIM:620166"	"Muscular dystrophy, congenital, with or without seizures"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4431"	"GOSR2"	"OMIM:620166"	"Muscular dystrophy, congenital, with or without seizures"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-07 19:58:06"	""	""	"25326637, 29855340, 33639315"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GOSR20CMD"	"2023-11-30"
"GENCC_000106-HGNC_16148-OMIM_620167-HP_0000007-GENCC_100002"	"HGNC:16148"	"CRLS1"	"MONDO:0859337"	"combined oxidative phosphorylation deficiency 57"	"OMIM:620167"	"Combined oxidative phosphorylation deficiency 57"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16148"	"CRLS1"	"OMIM:620167"	"Combined oxidative phosphorylation deficiency 57"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-14 00:05:51"	""	""	"35147173"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CRLS10MitoEncephalo"	"2023-11-30"
"GENCC_000106-HGNC_11474-OMIM_256000-HP_0000007-GENCC_100002"	"HGNC:11474"	"SURF1"	"MONDO:0009723"	"Leigh syndrome"	"OMIM:256000"	"OMIM:256000"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11474"	"SURF1"	"OMIM:256000"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-17 19:21:56"	""	""	"10443880, 22488715, 23829769"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SURF10MC4def"	"2023-11-30"
"GENCC_000106-HGNC_26255-OMIM_620177-HP_0000007-GENCC_100002"	"HGNC:26255"	"C3orf52"	"MONDO:0859341"	"hypotrichosis 15"	"OMIM:620177"	"Hypotrichosis 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26255"	"C3orf52"	"OMIM:620177"	"Hypotrichosis 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-14 14:29:54"	""	""	"32336749, 34309526"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"C3orf520C3orf52rel"	"2023-11-30"
"GENCC_000106-HGNC_1148-OMIM_620183-HP_0000005-GENCC_100004"	"HGNC:1148"	"BUB1"	"MONDO:0859342"	"microcephaly 30, primary, autosomal recessive"	"OMIM:620183"	"Microcephaly 30, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1148"	"BUB1"	"OMIM:620183"	"Microcephaly 30, primary, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-07 19:55:07"	""	""	"35044816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BUB10MVA"	"2023-11-30"
"GENCC_000106-HGNC_20465-OMIM_620185-HP_0000007-GENCC_100002"	"HGNC:20465"	"SMC5"	"MONDO:0859576"	"Atelis syndrome 2"	"OMIM:620185"	"Atelis syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20465"	"SMC5"	"OMIM:620185"	"Atelis syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-02 18:48:26"	""	""	"36333305, 36627765"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SMC50NDD, SMC5rel"	"2023-11-30"
"GENCC_000106-HGNC_7133-OMIM_620186-HP_0000006-GENCC_100002"	"HGNC:7133"	"KMT2D"	"MONDO:0859345"	"branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome"	"OMIM:620186"	"Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:7133"	"KMT2D"	"OMIM:620186"	"Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-27 20:54:20"	""	""	"31949313"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"KMT2D0KMT2Drel"	"2023-11-30"
"GENCC_000106-HGNC_20898-OMIM_620191-HP_0000007-GENCC_100002"	"HGNC:20898"	"PGM2L1"	"MONDO:0859347"	"neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities"	"OMIM:620191"	"Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20898"	"PGM2L1"	"OMIM:620191"	"Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 23:57:58"	""	""	"33979636"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PGM2L10PGM2L1rel"	"2023-11-30"
"GENCC_000106-HGNC_11494-OMIM_300491-HP_0001417-GENCC_100002"	"HGNC:11494"	"SYN1"	"MONDO:0010339"	"epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	"OMIM:300491"	"Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11494"	"SYN1"	"OMIM:300491"	"epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-04 09:40:13"	""	""	"14985377, 21441247"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYN10XLELB"	"2023-11-30"
"GENCC_000106-HGNC_17089-OMIM_610743-HP_0000007-GENCC_100002"	"HGNC:17089"	"SYNE1"	"MONDO:0012549"	"autosomal recessive ataxia, Beauce type"	"OMIM:610743"	"Spinocerebellar ataxia, autosomal recessive 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17089"	"SYNE1"	"OMIM:610743"	"autosomal recessive ataxia, Beauce type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 10:10:38"	""	""	"17159980, 23325900, 27086870"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCAR8"	"2023-11-30"
"GENCC_000106-HGNC_17089-OMIM_618484-HP_0000007-GENCC_100002"	"HGNC:17089"	"SYNE1"	"MONDO:0032778"	"arthrogryposis multiplex congenita 3, myogenic type"	"OMIM:618484"	"Arthrogryposis multiplex congenita 3, myogenic type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17089"	"SYNE1"	"OMIM:618484"	"Arthrogryposis multiplex congenita 3, myogenic type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-28 11:59:54"	""	""	"19542096, 24319099, 27234031, 27782104"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYNE10Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_17089-OMIM_612998-HP_0000006-GENCC_100004"	"HGNC:17089"	"SYNE1"	"MONDO:0013071"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"OMIM:612998"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17089"	"SYNE1"	"OMIM:612998"	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-11 12:21:42"	""	""	"17761684, 25091525, 27066551, 28818390, 30626539, 31110749"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYNE10Emery0EDMD"	"2023-11-30"
"GENCC_000106-HGNC_17084-OMIM_612999-HP_0000005-GENCC_100004"	"HGNC:17084"	"SYNE2"	"MONDO:0013072"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"OMIM:612999"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17084"	"SYNE2"	"OMIM:612999"	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-05-01 08:30:47"	""	""	"17761684, 32184094, 32403337, 32528171"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYNE20Emery0EDMD"	"2023-11-30"
"GENCC_000106-HGNC_11497-OMIM_612621-HP_0000006-GENCC_100002"	"HGNC:11497"	"SYNGAP1"	"MONDO:0012960"	"intellectual disability, autosomal dominant 5"	"OMIM:612621"	"Intellectual developmental disorder, autosomal dominant 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11497"	"SYNGAP1"	"OMIM:612621"	"intellectual disability, autosomal dominant 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:38:46"	""	""	"23161826, 23708187, 26989088"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYNGAP10MRD"	"2023-11-30"
"GENCC_000106-HGNC_11503-OMIM_615530-HP_0000007-GENCC_100002"	"HGNC:11503"	"SYNJ1"	"MONDO:0014233"	"early-onset Parkinson disease 20"	"OMIM:615530"	"Parkinson disease 20, early-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11503"	"SYNJ1"	"OMIM:615530"	"early-onset Parkinson disease 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:54"	""	""	"23804563, 23804577, 24816432, 27496670"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYNJ10Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_11503-OMIM_617389-HP_0000007-GENCC_100002"	"HGNC:11503"	"SYNJ1"	"MONDO:0033362"	"developmental and epileptic encephalopathy, 53"	"OMIM:617389"	"Developmental and epileptic encephalopathy 53"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11503"	"SYNJ1"	"OMIM:617389"	"developmental and epileptic encephalopathy, 53"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-26 08:56:44"	""	""	"10535736, 25046240, 25316601, 27435091"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYNJ10epilepsy"	"2023-11-30"
"GENCC_000106-HGNC_11506-OMIM_300802-HP_0001417-GENCC_100004"	"HGNC:11506"	"SYP"	"MONDO:0010429"	"intellectual disability, X-linked 96"	"OMIM:300802"	"Intellectual developmental disorder, X-linked 96"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11506"	"SYP"	"OMIM:300802"	"intellectual disability, X-linked 96"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-14 12:25:53"	""	""	"19377476, 23966691, 28887151"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYP0XLID"	"2023-11-30"
"GENCC_000106-HGNC_11509-OMIM_618218-HP_0000006-GENCC_100002"	"HGNC:11509"	"SYT1"	"MONDO:0033864"	"infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"	"OMIM:618218"	"Baker-Gordon syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11509"	"SYT1"	"OMIM:618218"	"infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 13:49:06"	""	""	"25705886, 25712080, 28135719, 30107533"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYT10SYT1rel"	"2023-11-30"
"GENCC_000106-HGNC_23143-OMIM_614229-HP_0000005-GENCC_100004"	"HGNC:23143"	"SYT14"	"MONDO:0013645"	"autosomal recessive spinocerebellar ataxia 11"	"OMIM:614229"	"?Spinocerebellar ataxia, autosomal recessive 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23143"	"SYT14"	"OMIM:614229"	"?Spinocerebellar ataxia, autosomal recessive 11"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"17304550, 21835308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYT140SCAR"	"2023-11-30"
"GENCC_000106-HGNC_11510-OMIM_616040-HP_0000006-GENCC_100002"	"HGNC:11510"	"SYT2"	"MONDO:0014468"	"congenital myasthenic syndrome 7"	"OMIM:616040"	"Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11510"	"SYT2"	"OMIM:616040"	"congenital myasthenic syndrome 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-03 09:05:39"	""	""	"17192432, 25192047, 308308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SYT20CMS"	"2023-11-30"
"GENCC_000106-HGNC_29040-OMIM_615476-HP_0000007-GENCC_100002"	"HGNC:29040"	"SZT2"	"MONDO:0014201"	"developmental and epileptic encephalopathy, 18"	"OMIM:615476"	"Developmental and epileptic encephalopathy 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29040"	"SZT2"	"OMIM:615476"	"developmental and epileptic encephalopathy, 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 12:55:38"	""	""	"19624305, 23932106, 27159321, 27248490, 28556953"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SZT20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_17075-OMIM_614980-HP_0000006-GENCC_100002"	"HGNC:17075"	"TAB2"	"MONDO:0014000"	"congenital heart defects, multiple types, 2"	"OMIM:614980"	"Congenital heart defects, nonsyndromic, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17075"	"TAB2"	"OMIM:614980"	"congenital heart defects, multiple types, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 19:08:44"	""	""	"20493459, 27452334, 28386937, 28464518, 29700987, 30384889, 31250519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAB20polyvalv0syn"	"2023-11-30"
"GENCC_000106-HGNC_25821-OMIM_620194-HP_0000005-GENCC_100004"	"HGNC:25821"	"ZNF668"	"MONDO:0859350"	"neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies"	"OMIM:620194"	"Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25821"	"ZNF668"	"OMIM:620194"	"Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-14 00:01:04"	""	""	"26633546, 34313816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF6680ZNF688rel"	"2023-11-30"
"GENCC_000106-HGNC_11528-OMIM_614840-HP_0000007-GENCC_100002"	"HGNC:11528"	"TACR3"	"MONDO:0013913"	"hypogonadotropic hypogonadism 11 with or without anosmia"	"OMIM:614840"	"Hypogonadotropic hypogonadism 11 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11528"	"TACR3"	"OMIM:614840"	"Hypogonadotropic hypogonadism 11 with or without anosmia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-08 10:41:29"	""	""	"20194706, 20332248, 22031817"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TACR30IHH"	"2023-11-30"
"GENCC_000106-HGNC_11535-OMIM_314250-HP_0000005-GENCC_100004"	"HGNC:11535"	"TAF1"	"MONDO:0010747"	"X-linked dystonia-parkinsonism"	"OMIM:314250"	"Dystonia-Parkinsonism, X-linked"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11535"	"TAF1"	"OMIM:314250"	"X-linked dystonia-parkinsonism"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:04"	""	""	"17273961, 31116117"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAF10Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_21173-OMIM_620199-HP_0000005-GENCC_100004"	"HGNC:21173"	"LTV1"	"MONDO:0859355"	"inflammatory poikiloderma with hair abnormalities and acral keratoses"	"OMIM:620199"	"Inflammatory poikiloderma with hair abnormalities and acral keratoses"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21173"	"LTV1"	"OMIM:620199"	"Inflammatory poikiloderma with hair abnormalities and acral keratoses"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-13 23:59:59"	""	""	"34999892"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"LTV10LIPHAKsyn"	"2023-11-30"
"GENCC_000106-HGNC_11546-OMIM_617432-HP_0000005-GENCC_100004"	"HGNC:11546"	"TAF13"	"MONDO:0044313"	"intellectual disability, autosomal recessive 60"	"OMIM:617432"	"Intellectual developmental disorder, autosomal recessive 60"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11546"	"TAF13"	"OMIM:617432"	"intellectual disability, autosomal recessive 60"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:48"	""	""	"28257693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAF130TAF13rel"	"2023-11-30"
"GENCC_000106-HGNC_11536-OMIM_615599-HP_0000007-GENCC_100002"	"HGNC:11536"	"TAF2"	"MONDO:0014273"	"microcephaly-thin corpus callosum-intellectual disability syndrome"	"OMIM:615599"	"Intellectual developmental disorder, autosomal recessive 40"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11536"	"TAF2"	"OMIM:615599"	"microcephaly-thin corpus callosum-intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 14:09:05"	""	""	"21937992, 24084144, 26757139"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAF20IDandMicro"	"2023-11-30"
"GENCC_000106-HGNC_11540-OMIM_617126-HP_0000007-GENCC_100004"	"HGNC:11540"	"TAF6"	"MONDO:0014931"	"Alazami-Yuan syndrome"	"OMIM:617126"	"Alazami-Yuan syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11540"	"TAF6"	"OMIM:617126"	"Alazami-Yuan syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:01"	""	""	"25574841, 32030742"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAF60CdLS"	"2023-11-30"
"GENCC_000106-HGNC_21690-OMIM_620200-HP_0000005-GENCC_100004"	"HGNC:21690"	"GET4"	"MONDO:0859356"	"congenital disorder of glycosylation, type IIy"	"OMIM:620200"	"?Congenital disorder of glycosylation, type IIy"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21690"	"GET4"	"OMIM:620200"	"?Congenital disorder of glycosylation, type IIy"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-13 23:52:30"	""	""	"28191890, 31175295, 31785789, 32395830"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GET40GET4rel"	"2023-11-30"
"GENCC_000106-HGNC_621-OMIM_620210-HP_0000007-GENCC_100004"	"HGNC:621"	"NAE1"	"MONDO:0859361"	"neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia"	"OMIM:620210"	"Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:621"	"NAE1"	"OMIM:620210"	"Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-13 22:06:20"	""	""	"36608681"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NAE10NAE1rel"	"2023-11-30"
"GENCC_000106-HGNC_30212-OMIM_618906-HP_0000006-GENCC_100002"	"HGNC:30212"	"TANC2"	"MONDO:0030051"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"OMIM:618906"	"Intellectual developmental disorder with autistic features and language delay, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30212"	"TANC2"	"OMIM:618906"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-13 10:08:32"	""	""	"23033978, 24463507, 25363768, 28191890, 29070031, 31616000"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TANC20ID"	"2023-11-30"
"GENCC_000106-HGNC_12513-OMIM_620221-HP_0000006-GENCC_100002"	"HGNC:12513"	"UCHL1"	"MONDO:0859363"	"spastic paraplegia 79A, autosomal dominant, with ataxia"	"OMIM:620221"	"Spastic paraplegia 79A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12513"	"UCHL1"	"OMIM:620221"	"Spastic paraplegia 79A, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 22:07:35"	""	""	"35986737"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UCHL10SpasticPara02"	"2023-11-30"
"GENCC_000106-HGNC_43-OMIM_604571-HP_0000007-GENCC_100002"	"HGNC:43"	"TAP1"	"MONDO:0011476"	"MHC class I deficiency"	"OMIM:604571"	"MHC class I deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:43"	"TAP1"	"OMIM:604571"	"MHC class I deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"10074494, 10074495, 16299152, 18668571"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAP10MHCIdef"	"2023-11-30"
"GENCC_000106-HGNC_44-OMIM_604571-HP_0000007-GENCC_100002"	"HGNC:44"	"TAP2"	"MONDO:0011476"	"MHC class I deficiency"	"OMIM:604571"	"MHC class I deficiency 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:44"	"TAP2"	"OMIM:604571"	"MHC class I deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:05"	""	""	"11529920, 12067308, 23662797, 25001848, 7517574"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAP20MHCIdef"	"2023-11-30"
"GENCC_000106-HGNC_11566-OMIM_604571-HP_0000007-GENCC_100004"	"HGNC:11566"	"TAPBP"	"MONDO:0011476"	"MHC class I deficiency"	"OMIM:604571"	"MHC class I deficiency 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11566"	"TAPBP"	"OMIM:604571"	"MHC class I deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:05"	""	""	"10973281, 10981964, 12149238, 26381407"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAPBP0MHCIdef"	"2023-11-30"
"GENCC_000106-HGNC_26887-OMIM_616897-HP_0000007-GENCC_100002"	"HGNC:26887"	"TAPT1"	"MONDO:0014821"	"complex lethal osteochondrodysplasia"	"OMIM:616897"	"Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26887"	"TAPT1"	"OMIM:616897"	"Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:47:41"	""	""	"17151244, 26365339, 32058062"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAPT10Osteochondrodys"	"2023-11-30"
"GENCC_000106-HGNC_30740-OMIM_615918-HP_0000007-GENCC_100002"	"HGNC:30740"	"TARS2"	"MONDO:0014398"	"combined oxidative phosphorylation defect type 21"	"OMIM:615918"	"Combined oxidative phosphorylation deficiency 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30740"	"TARS2"	"OMIM:615918"	"combined oxidative phosphorylation defect type 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-29 18:55:26"	""	""	"24827421, 26811336, 33153448, 36218002"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TARS20OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_15859-OMIM_618950-HP_0000007-GENCC_100002"	"HGNC:15859"	"TASP1"	"MONDO:0033532"	"Suleiman-El-Hattab syndrome"	"OMIM:618950"	"Suleiman-El-Hattab syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15859"	"TASP1"	"OMIM:618950"	"Suleiman-El-Hattab syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 13:09:59"	""	""	"16951254, 29633245, 31209944, 31350873"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TASP10TASP1rel"	"2023-11-30"
"GENCC_000106-HGNC_11577-OMIM_302060-HP_0001417-GENCC_100002"	"HGNC:11577"	"TAFAZZIN"	"MONDO:0010543"	"Barth syndrome"	"OMIM:302060"	"Barth syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11577"	"TAFAZZIN"	"OMIM:302060"	"Barth syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-31 22:28:17"	""	""	"12930833, 16427346, 19619503, 19700766, 22382802, 23100323, 23409742, 24342716, 302060"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TAZ0Barth"	"2023-11-30"
"GENCC_000106-HGNC_16133-OMIM_615663-HP_0000007-GENCC_100002"	"HGNC:16133"	"TBC1D20"	"MONDO:0014296"	"Warburg micro syndrome 4"	"OMIM:615663"	"Warburg micro syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16133"	"TBC1D20"	"OMIM:615663"	"Warburg micro syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"24239381"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBC1D200WarburgMicro"	"2023-11-30"
"GENCC_000106-HGNC_18533-OMIM_620227-HP_0000005-GENCC_100004"	"HGNC:18533"	"USP48"	"MONDO:0859366"	"hearing loss, autosomal dominant 85"	"OMIM:620227"	"Deafness, autosomal dominant 85"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18533"	"USP48"	"OMIM:620227"	"Deafness, autosomal dominant 85"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-03-13 22:08:54"	""	""	"34059922"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USP480NSHL"	"2023-11-30"
"GENCC_000106-HGNC_29203-OMIM_220500-HP_0000007-GENCC_100002"	"HGNC:29203"	"TBC1D24"	"MONDO:0009079"	"DOORS syndrome"	"OMIM:220500"	"DOORS syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29203"	"TBC1D24"	"OMIM:220500"	"DOORS syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:53"	""	""	"20797691, 23343562, 23526554, 24291220, 24387994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBC1D240TBC1D24related02"	"2023-11-30"
"GENCC_000106-HGNC_11029-OMIM_620231-HP_0000006-GENCC_100002"	"HGNC:11029"	"SLC4A3"	"MONDO:0859368"	"short QT syndrome 7"	"OMIM:620231"	"Short QT syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11029"	"SLC4A3"	"OMIM:620231"	"Short QT syndrome 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-28 21:23:14"	""	""	"29167417"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC4A30ShortQT"	"2023-11-30"
"GENCC_000106-HGNC_7776-OMIM_620232-HP_0000005-GENCC_100004"	"HGNC:7776"	"NFATC2"	"MONDO:0859369"	"joint contractures, osteochondromas, and B-cell lymphoma"	"OMIM:620232"	"?Joint contracture, osteochondromas, and B-cell lymphoma"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:7776"	"NFATC2"	"OMIM:620232"	"?Joint contracture, osteochondromas, and B-cell lymphoma"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-05 18:12:35"	""	""	"35789258"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NFATC20Osteo0Bcell"	"2023-11-30"
"GENCC_000106-HGNC_24715-OMIM_301028-HP_0001417-GENCC_100002"	"HGNC:24715"	"TBC1D8B"	"MONDO:0026726"	"nephrotic syndrome, type 20"	"OMIM:301028"	"Nephrotic syndrome, type 20"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:24715"	"TBC1D8B"	"OMIM:301028"	"nephrotic syndrome, type 20"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-22 12:39:46"	""	""	"30661770, 31732614"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBC1D8B0SRNS"	"2023-11-30"
"GENCC_000106-HGNC_11582-OMIM_241410-HP_0000007-GENCC_100002"	"HGNC:11582"	"TBCE"	"MONDO:0009426"	"hypoparathyroidism-retardation-dysmorphism syndrome"	"OMIM:241410"	"Hypoparathyroidism-retardation-dysmorphism syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11582"	"TBCE"	"OMIM:241410"	"hypoparathyroidism-retardation-dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 14:39:23"	""	""	"12389028, 12389029, 12446740, 16470743, 16938882, 20152369, 251482, 26795593, 27666369"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBCE0HRD"	"2023-11-30"
"GENCC_000106-HGNC_11582-OMIM_617193-HP_0000007-GENCC_100002"	"HGNC:11582"	"TBCE"	"MONDO:0044646"	"early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"	"OMIM:617193"	"Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11582"	"TBCE"	"OMIM:617193"	"early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 14:39:23"	""	""	"120662, 121408, 251488, 27666369, 34134906, 34356170"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBCE0PEAMO"	"2023-11-30"
"GENCC_000106-HGNC_11584-OMIM_616439-HP_0000006-GENCC_100002"	"HGNC:11584"	"TBK1"	"MONDO:0014641"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"OMIM:616439"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11584"	"TBK1"	"OMIM:616439"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:29:12"	""	""	"25700176, 25803835, 26476236, 26581300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBK10ALS"	"2023-11-30"
"GENCC_000106-HGNC_328-OMIM_620233-HP_0000007-GENCC_100002"	"HGNC:328"	"AGR2"	"MONDO:0859370"	"respiratory infections, recurrent, and failure to thrive with or without diarrhea"	"OMIM:620233"	"Respiratory infections, recurrent, and failure to thrive with or without diarrhea"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:328"	"AGR2"	"OMIM:620233"	"Respiratory infections, recurrent, and failure to thrive with or without diarrhea"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-13 22:03:46"	""	""	"16222343, 34237462, 34952832"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGR20CFlikeSyn"	"2023-11-30"
"GENCC_000106-HGNC_13831-OMIM_620237-HP_0000007-GENCC_100002"	"HGNC:13831"	"WDR11"	"MONDO:0859373"	"intellectual developmental disorder, autosomal recessive 78"	"OMIM:620237"	"Intellectual developmental disorder, autosomal recessive 78"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13831"	"WDR11"	"OMIM:620237"	"Intellectual developmental disorder, autosomal recessive 78"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 18:10:45"	""	""	"34413497"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR110IDMSS"	"2023-11-30"
"GENCC_000106-HGNC_29529-OMIM_602342-HP_0000006-GENCC_100002"	"HGNC:29529"	"TBL1XR1"	"MONDO:0011213"	"Pierpont syndrome"	"OMIM:602342"	"Pierpont syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29529"	"TBL1XR1"	"OMIM:602342"	"Pierpont syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:36:04"	""	""	"26769062, 28687524, 30365874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBL1XR10Pierpont"	"2023-11-30"
"GENCC_000106-HGNC_29529-OMIM_616944-HP_0000006-GENCC_100002"	"HGNC:29529"	"TBL1XR1"	"MONDO:0014842"	"intellectual disability, autosomal dominant 41"	"OMIM:616944"	"Intellectual developmental disorder, autosomal dominant 41"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29529"	"TBL1XR1"	"OMIM:616944"	"intellectual disability, autosomal dominant 41"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-14 18:37:25"	""	""	"23160955, 26740553, 27824329"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBL1XR10Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_11588-OMIM_607136-HP_0000006-GENCC_100002"	"HGNC:11588"	"TBP"	"MONDO:0011781"	"spinocerebellar ataxia type 17"	"OMIM:607136"	"Spinocerebellar ataxia 17"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11588"	"TBP"	"OMIM:607136"	"spinocerebellar ataxia type 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-28 18:01:00"	""	""	"11313753, 15989694, 18418687"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBP0SCA"	"2023-11-30"
"GENCC_000106-HGNC_11592-OMIM_217095-HP_0000006-GENCC_100002"	"HGNC:11592"	"TBX1"	"MONDO:0016581"	"conotruncal heart malformations"	"OMIM:217095"	"Conotruncal anomaly face syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11592"	"TBX1"	"OMIM:217095"	"conotruncal heart malformations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 09:41:07"	""	""	"11239417, 11242049, 11242110, 11748311, 14585638, 18636631, 192430, 20054531, 20937753, 24637876, 24998776, 25860641, 29500247"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX10TBX1rel"	"2023-11-30"
"GENCC_000106-HGNC_11597-OMIM_618223-HP_0000006-GENCC_100002"	"HGNC:11597"	"TBX2"	"MONDO:0032607"	"vertebral anomalies and variable endocrine and T-cell dysfunction"	"OMIM:618223"	"Vertebral anomalies and variable endocrine and T-cell dysfunction"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11597"	"TBX2"	"OMIM:618223"	"vertebral anomalies and variable endocrine and T-cell dysfunction"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:40"	""	""	"21271665, 28459839, 29070031, 29522511, 29726930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX20TBX2rel"	"2023-11-30"
"GENCC_000106-HGNC_11598-OMIM_611363-HP_0000006-GENCC_100002"	"HGNC:11598"	"TBX20"	"MONDO:0012654"	"atrial septal defect 4"	"OMIM:611363"	"Atrial septal defect 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11598"	"TBX20"	"OMIM:611363"	"atrial septal defect 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"15901664, 17668378, 18834961, 19762328, 25625280, 26118961, 27510170, 28553164"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX200CongentialHeart"	"2023-11-30"
"GENCC_000106-HGNC_4425-OMIM_620240-HP_0000007-GENCC_100002"	"HGNC:4425"	"GOLGA2"	"MONDO:0859375"	"developmental delay with hypotonia, myopathy, and brain abnormalities"	"OMIM:620240"	"Developmental delay with hypotonia, myopathy, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4425"	"GOLGA2"	"OMIM:620240"	"Developmental delay with hypotonia, myopathy, and brain abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 18:09:54"	""	""	"26742501, 30237576, 34424553"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GOLGA20GOLGA2rel"	"2023-11-30"
"GENCC_000106-HGNC_11600-OMIM_303400-HP_0001417-GENCC_100002"	"HGNC:11600"	"TBX22"	"MONDO:0010560"	"cleft palate with or without ankyloglossia, X-linked"	"OMIM:303400"	"Cleft palate with ankyloglossia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11600"	"TBX22"	"OMIM:303400"	"cleft palate with or without ankyloglossia, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-20 19:45:22"	""	""	"11559848, 12374769, 14729838, 17868388, 22784330"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX220CleftPal"	"2023-11-30"
"GENCC_000106-HGNC_11604-OMIM_142900-HP_0000006-GENCC_100002"	"HGNC:11604"	"TBX5"	"MONDO:0007732"	"Holt-Oram syndrome"	"OMIM:142900"	"Holt-Oram syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11604"	"TBX5"	"OMIM:142900"	"Holt-Oram syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-17 13:15:56"	""	""	"16183809, 16917909, 19648116, 20519243, 25963046"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX50HoltOram"	"2023-11-30"
"GENCC_000106-HGNC_11605-OMIM_122600-HP_0000005-GENCC_100004"	"HGNC:11605"	"TBX6"	"MONDO:0007389"	"spondylocostal dysostosis 5"	"OMIM:122600"	"Spondylocostal dysostosis 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11605"	"TBX6"	"OMIM:122600"	"spondylocostal dysostosis 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-03-18 13:30:12"	""	""	"21331042, 23335591, 24458548, 25564734, 27861764, 28054739, 28990171, 29459493, 30307510, 30636772, 31015262, 31471994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBX60Spondylocostal"	"2023-11-30"
"GENCC_000106-HGNC_11608-OMIM_614009-HP_0000005-GENCC_100004"	"HGNC:11608"	"TBXA2R"	"MONDO:0013524"	"bleeding diathesis due to thromboxane synthesis deficiency"	"OMIM:614009"	"{Bleeding disorder, platelet-type, 13, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11608"	"TBXA2R"	"OMIM:614009"	"bleeding diathesis due to thromboxane synthesis deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-02-03 10:20:33"	""	""	"19828703, 21342433, 23279270, 24452735, 30089223, 31389738, 32935436"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBXA2R0{Bleedin"	"2023-11-30"
"GENCC_000106-HGNC_11609-OMIM_231095-HP_0000007-GENCC_100002"	"HGNC:11609"	"TBXAS1"	"MONDO:0009274"	"ghosal hematodiaphyseal dysplasia"	"OMIM:231095"	"Ghosal hematodiaphyseal syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11609"	"TBXAS1"	"OMIM:231095"	"ghosal hematodiaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-10 11:32:09"	""	""	"18264100, 22735388, 27156553, 28868793, 33595912, 35395429"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TBXAS10GHDD"	"2023-11-30"
"GENCC_000106-HGNC_11610-OMIM_607487-HP_0000006-GENCC_100002"	"HGNC:11610"	"TCAP"	"MONDO:0011843"	"hypertrophic cardiomyopathy 25"	"OMIM:607487"	"Cardiomyopathy, hypertrophic, 25"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11610"	"TCAP"	"OMIM:607487"	"hypertrophic cardiomyopathy 25"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:25:33"	""	""	"12507422, 15582318, 16352453, 19035361, 20233748, 21799151, 23100327, 24037902, 24280220, 31308319, 9350988, 9804419"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCAP0HCM"	"2023-11-30"
"GENCC_000106-HGNC_11610-OMIM_601954-HP_0000007-GENCC_100002"	"HGNC:11610"	"TCAP"	"MONDO:0011170"	"autosomal recessive limb-girdle muscular dystrophy type 2G"	"OMIM:601954"	"Muscular dystrophy, limb-girdle, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11610"	"TCAP"	"OMIM:601954"	"autosomal recessive limb-girdle muscular dystrophy type 2G"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 01:53:45"	""	""	"10655062, 19679566, 20233748, 21530252, 25055047, 9245996, 9350988"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCAP0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_13540-OMIM_620242-HP_0000007-GENCC_100002"	"HGNC:13540"	"ATP9A"	"MONDO:0859377"	"neurodevelopmental disorder with poor growth and behavioral abnormalities"	"OMIM:620242"	"Neurodevelopmental disorder with poor growth and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13540"	"ATP9A"	"OMIM:620242"	"Neurodevelopmental disorder with poor growth and behavioral abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 18:09:07"	""	""	"34379057, 34764295, 36604604"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP9A0ATP9Adev"	"2023-11-30"
"GENCC_000106-HGNC_11623-OMIM_615314-HP_0000006-GENCC_100002"	"HGNC:11623"	"TCF12"	"MONDO:0014128"	"TCF12-related craniosynostosis"	"OMIM:615314"	"Craniosynostosis 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11623"	"TCF12"	"OMIM:615314"	"TCF12-related craniosynostosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-16 17:58:09"	""	""	"23354436, 24736737"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCF120Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_25380-OMIM_620243-HP_0000006-GENCC_100002"	"HGNC:25380"	"TMEM163"	"MONDO:0859378"	"leukodystrophy, hypomyelinating, 25"	"OMIM:620243"	"Leukodystrophy, hypomyelinating, 25"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25380"	"TMEM163"	"OMIM:620243"	"Leukodystrophy, hypomyelinating, 25"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-16 15:23:13"	""	""	"35455965, 35953447"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1630TMEM163-HL"	"2023-11-30"
"GENCC_000106-HGNC_17754-OMIM_620244-HP_0000007-GENCC_100002"	"HGNC:17754"	"THSD1"	"MONDO:0859379"	"lymphatic malformation 13"	"OMIM:620244"	"Lymphatic malformation 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17754"	"THSD1"	"OMIM:620244"	"Lymphatic malformation 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-12 15:24:05"	""	""	"26036949, 30055085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THSD10NIHF"	"2023-11-30"
"GENCC_000106-HGNC_11647-OMIM_259700-HP_0000007-GENCC_100002"	"HGNC:11647"	"TCIRG1"	"MONDO:0009815"	"autosomal recessive osteopetrosis 1"	"OMIM:259700"	"Osteopetrosis, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11647"	"TCIRG1"	"OMIM:259700"	"autosomal recessive osteopetrosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-04 13:13:58"	""	""	"10888887, 10942435, 11532986, 19172990, 19448635, 23877423, 239886, 24989235, 281994"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCIRG10Osteopetrosis"	"2023-11-30"
"GENCC_000106-HGNC_28482-OMIM_617405-HP_0000007-GENCC_100002"	"HGNC:28482"	"DYNLT2B"	"MONDO:0054565"	"short-rib thoracic dysplasia 17 with or without polydactyly"	"OMIM:617405"	"Short-rib thoracic dysplasia 17 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28482"	"DYNLT2B"	"OMIM:617405"	"Short-rib thoracic dysplasia 17 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"196043103, 26044572"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCTEX1D20ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_26113-OMIM_614173-HP_0000007-GENCC_100002"	"HGNC:26113"	"TCTN1"	"MONDO:0013608"	"Joubert syndrome 13"	"OMIM:614173"	"Joubert syndrome 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26113"	"TCTN1"	"OMIM:614173"	"Joubert syndrome 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 14:30:04"	""	""	"21725307, 22693042, 249558, 26477546, 27894351"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCTN10Joubert"	"2023-11-30"
"GENCC_000106-HGNC_25774-OMIM_616654-HP_0000007-GENCC_100002"	"HGNC:25774"	"TCTN2"	"MONDO:0014724"	"Joubert syndrome 24"	"OMIM:616654"	"Joubert syndrome 24"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25774"	"TCTN2"	"OMIM:616654"	"Joubert syndrome 24"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-21 20:33:45"	""	""	"21565611"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCTN20Joubert"	"2023-11-30"
"GENCC_000106-HGNC_28497-OMIM_620245-HP_0000006-GENCC_100002"	"HGNC:28497"	"TMEM151A"	"MONDO:0859380"	"episodic kinesigenic dyskinesia 3"	"OMIM:620245"	"Episodic kinesigenic dyskinesia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28497"	"TMEM151A"	"OMIM:620245"	"Episodic kinesigenic dyskinesia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-16 15:22:06"	""	""	"34518509, 34711800, 34820915, 34970790"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM151A0PKDyskinesia"	"2023-11-30"
"GENCC_000106-HGNC_24519-OMIM_258860-HP_0000007-GENCC_100002"	"HGNC:24519"	"TCTN3"	"MONDO:0009794"	"orofaciodigital syndrome IV"	"OMIM:258860"	"Orofaciodigital syndrome IV"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24519"	"TCTN3"	"OMIM:258860"	"orofaciodigital syndrome IV"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-25 06:45:41"	""	""	"22883145"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TCTN30OFD"	"2023-11-30"
"GENCC_000106-HGNC_11708-OMIM_600627-HP_0000005-GENCC_100004"	"HGNC:11708"	"TDO2"	"MONDO:0010907"	"familial hypertryptophanemia"	"OMIM:600627"	"[?Hypertryptophanemia]"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11708"	"TDO2"	"OMIM:600627"	"[?Hypertryptophanemia]"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:02"	""	""	"28285122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TDO20Hypertrypto"	"2023-11-30"
"GENCC_000106-HGNC_12949-OMIM_620247-HP_0000006-GENCC_100004"	"HGNC:12949"	"VEZF1"	"MONDO:0859381"	"cardiomyopathy, dilated, 100"	"OMIM:620247"	"?Cardiomyopathy, dilated, 1OO"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12949"	"VEZF1"	"OMIM:620247"	"?Cardiomyopathy, dilated, 1OO"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-05 15:15:06"	""	""	"36657711"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VEZF10DCM"	"2023-11-30"
"GENCC_000106-HGNC_30831-OMIM_613887-HP_0000007-GENCC_100002"	"HGNC:30831"	"TDRD7"	"MONDO:0013484"	"cataract 36"	"OMIM:613887"	"Cataract 36"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30831"	"TDRD7"	"OMIM:613887"	"cataract 36"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-02 08:37:45"	""	""	"21436445, 28418495, 31048812"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TDRD70CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_11714-OMIM_108985-HP_0000006-GENCC_100002"	"HGNC:11714"	"TEAD1"	"MONDO:0007176"	"helicoid peripapillary chorioretinal degeneration"	"OMIM:108985"	"Sveinsson chorioretinal atrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11714"	"TEAD1"	"OMIM:108985"	"helicoid peripapillary chorioretinal degeneration"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-20 09:00:56"	""	""	"15016762, 17689488, 419979"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TEAD10CRA"	"2023-11-30"
"GENCC_000106-HGNC_4551-OMIM_614020-HP_0000007-GENCC_100004"	"HGNC:4551"	"TECR"	"MONDO:0013528"	"intellectual disability, autosomal recessive 14"	"OMIM:614020"	"Intellectual developmental disorder, autosomal recessive 14"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4551"	"TECR"	"OMIM:614020"	"intellectual disability, autosomal recessive 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-13 07:23:49"	""	""	"21212097, 22419660, 24220030, 26975778"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TECR0MentalRe08"	"2023-11-30"
"GENCC_000106-HGNC_27365-OMIM_614021-HP_0000007-GENCC_100002"	"HGNC:27365"	"TECRL"	"MONDO:0013529"	"catecholaminergic polymorphic ventricular tachycardia 3"	"OMIM:614021"	"Ventricular tachycardia, catecholaminergic polymorphic, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27365"	"TECRL"	"OMIM:614021"	"catecholaminergic polymorphic ventricular tachycardia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:58"	""	""	"27861123, 30790670, 32173957"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TECRL0TECRLrel"	"2023-11-30"
"GENCC_000106-HGNC_11720-OMIM_601543-HP_0000006-GENCC_100002"	"HGNC:11720"	"TECTA"	"MONDO:0011102"	"autosomal dominant nonsyndromic hearing loss 12"	"OMIM:601543"	"Deafness, autosomal dominant 8/12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11720"	"TECTA"	"OMIM:601543"	"autosomal dominant nonsyndromic hearing loss 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:40"	""	""	"11087000, 11333869, 21520338, 22995349, 24363064"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSHL0DFNA8"	"2023-11-30"
"GENCC_000106-HGNC_11720-OMIM_603629-HP_0000007-GENCC_100002"	"HGNC:11720"	"TECTA"	"MONDO:0011351"	"autosomal recessive nonsyndromic hearing loss 21"	"OMIM:603629"	"Deafness, autosomal recessive 21"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11720"	"TECTA"	"OMIM:603629"	"autosomal recessive nonsyndromic hearing loss 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-12 13:57:36"	""	""	"11087000, 12746400, 17431902, 24130743, 248366, 251202, 251478, 26226137"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NSHL0DFNB21"	"2023-11-30"
"GENCC_000106-HGNC_11724-OMIM_617272-HP_0000006-GENCC_100002"	"HGNC:11724"	"TEK"	"MONDO:0014998"	"glaucoma 3, primary congenital, E"	"OMIM:617272"	"Glaucoma 3, primary congenital, E"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11724"	"TEK"	"OMIM:617272"	"Glaucoma 3, primary congenital, E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 09:22:45"	""	""	"25202984, 27270174"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TEK0Glaucoma"	"2023-11-30"
"GENCC_000106-HGNC_11724-OMIM_600195-HP_0000006-GENCC_100002"	"HGNC:11724"	"TEK"	"MONDO:0010842"	"multiple cutaneous and mucosal venous malformations"	"OMIM:600195"	"Venous malformations, multiple cutaneous and mucosal"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11724"	"TEK"	"OMIM:600195"	"multiple cutaneous and mucosal venous malformations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 12:53:06"	""	""	"15526080, 19888299"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TEK0TEKrel"	"2023-11-30"
"GENCC_000106-HGNC_26611-OMIM_620250-HP_0000007-GENCC_100002"	"HGNC:26611"	"HECTD4"	"MONDO:0859516"	"neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26611"	"HECTD4"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:41:24"	""	""	"36401616"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HECTD40Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_16872-OMIM_620269-HP_0000007-GENCC_100004"	"HGNC:16872"	"SLC35B2"	"MONDO:0859518"	"leukodystrophy, hypomyelinating, 26, with chondrodysplasia"	"OMIM:620269"	"Leukodystrophy, hypomyelinating, 26, with chondrodysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16872"	"SLC35B2"	"OMIM:620269"	"Leukodystrophy, hypomyelinating, 26, with chondrodysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-05 15:13:41"	""	""	"35325049"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC35B20CDHLD"	"2023-11-30"
"GENCC_000106-HGNC_29944-OMIM_615145-HP_0000007-GENCC_100002"	"HGNC:29944"	"TENM3"	"MONDO:0014059"	"microphthalmia, isolated, with coloboma 9"	"OMIM:615145"	"?Microphthalmia/coloboma 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29944"	"TENM3"	"OMIM:615145"	"microphthalmia, isolated, with coloboma 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:24:45"	""	""	"17803360, 22499796, 22766609, 27103084, 29753094, 30513139"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TENM30MAC"	"2023-11-30"
"GENCC_000106-HGNC_11727-OMIM_127550-HP_0000006-GENCC_100002"	"HGNC:11727"	"TERC"	"MONDO:0007485"	"dyskeratosis congenita, autosomal dominant 1"	"OMIM:127550"	"Dyskeratosis congenita, autosomal dominant 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11727"	"TERC"	"OMIM:127550"	"dyskeratosis congenita, autosomal dominant 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-18 09:06:12"	""	""	"11520856, 11574891, 1.62155E+15, 17392301"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TERC0DKC"	"2023-11-30"
"GENCC_000106-HGNC_11730-OMIM_601626-HP_0000006-GENCC_100004"	"HGNC:11730"	"TERT"	"MONDO:0018874"	"acute myeloid leukemia"	"OMIM:601626"	"Leukemia, acute myeloid"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11730"	"TERT"	"OMIM:601626"	"acute myeloid leukemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-25 08:29:44"	""	""	"18763630, 19147845"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TERT0AML0Familial"	"2023-11-30"
"GENCC_000106-HGNC_11730-OMIM_613989-HP_0000006-GENCC_100002"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11730"	"TERT"	"OMIM:613989"	"dyskeratosis congenita, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 09:20:26"	""	""	"16247010, 21543794, 34852175, 37096215"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TERT0DKC"	"2023-11-30"
"GENCC_000106-HGNC_11730-OMIM_613989-HP_0000007-GENCC_100002"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11730"	"TERT"	"OMIM:613989"	"dyskeratosis congenita, autosomal dominant 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 09:20:26"	""	""	"16247010"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TERT0HHS"	"2023-11-30"
"GENCC_000106-HGNC_11730-OMIM_614742-HP_0000006-GENCC_100002"	"HGNC:11730"	"TERT"	"MONDO:0013878"	"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1"	"OMIM:614742"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11730"	"TERT"	"OMIM:614742"	"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-02 14:17:58"	""	""	"17460043, 21543794"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TERT0IPF"	"2023-11-30"
"GENCC_000106-HGNC_11730-OMIM_615134-HP_0000006-GENCC_100004"	"HGNC:11730"	"TERT"	"MONDO:0014056"	"melanoma, cutaneous malignant, susceptibility to, 9"	"OMIM:615134"	"{Melanoma, cutaneous malignant, 9}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11730"	"TERT"	"OMIM:615134"	"melanoma, cutaneous malignant, susceptibility to, 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-18 15:49:39"	""	""	"20871597, 22037553, 23066086, 23348503, 23535731, 26194807, 26433962, 35912549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TERT0TERTrelCanc"	"2023-11-30"
"GENCC_000106-HGNC_25941-OMIM_619126-HP_0000007-GENCC_100002"	"HGNC:25941"	"TET2"	"MONDO:0030858"	"immunodeficiency 75"	"OMIM:619126"	"Immunodeficiency 75"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25941"	"TET2"	"OMIM:619126"	"Immunodeficiency 75"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-01-05 11:04:17"	""	""	"32518946, 36066697"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TET20EBVlymph"	"2023-11-30"
"GENCC_000106-HGNC_28313-OMIM_618798-HP_0000007-GENCC_100002"	"HGNC:28313"	"TET3"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"OMIM:618798"	"Beck-Fahrner syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28313"	"TET3"	"OMIM:618798"	"Beck-Fahrner syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:21:15"	""	""	"31928709, 34719681"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TET30BeckFahrner"	"2023-11-30"
"GENCC_000106-HGNC_11733-OMIM_309120-HP_0001417-GENCC_100002"	"HGNC:11733"	"TEX11"	"MONDO:0010647"	"spermatogenic failure, X-linked, 2"	"OMIM:309120"	"Spermatogenic failure, X-linked 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11733"	"TEX11"	"OMIM:309120"	"spermatogenic failure, X-linked, 2"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 17:55:34"	""	""	"18316482, 25970010, 26136358, 29661171, 32469048, 32719396, 32741963, 34621296"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TEX110Spermato05"	"2023-11-30"
"GENCC_000106-HGNC_11738-OMIM_617960-HP_0000005-GENCC_100004"	"HGNC:11738"	"TEX15"	"MONDO:0054729"	"spermatogenic failure 25"	"OMIM:617960"	"Spermatogenic failure 25"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11738"	"TEX15"	"OMIM:617960"	"Spermatogenic failure 25"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:20"	""	""	"18283110, 19007652, 250744, 26199321, 279828, 28303806, 28355598, 31479588"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TEX150MaleInfertility"	"2023-11-30"
"GENCC_000106-HGNC_11740-OMIM_209300-HP_0000007-GENCC_100002"	"HGNC:11740"	"TF"	"MONDO:0008846"	"atransferrinemia"	"OMIM:209300"	"Atransferrinemia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11740"	"TF"	"OMIM:209300"	"atransferrinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-01 07:37:46"	""	""	"10910930, 11110675, 15466165, 18097132, 19696475, 23888904, 25486930"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TF0atrans"	"2023-11-30"
"GENCC_000106-HGNC_11741-OMIM_617156-HP_0000007-GENCC_100004"	"HGNC:11741"	"TFAM"	"MONDO:0014943"	"mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"	"OMIM:617156"	"?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11741"	"TFAM"	"OMIM:617156"	"mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-18 14:09:58"	""	""	"27448789, 34647195"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFAM0MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_11742-OMIM_113620-HP_0000006-GENCC_100002"	"HGNC:11742"	"TFAP2A"	"MONDO:0007235"	"branchiooculofacial syndrome"	"OMIM:113620"	"Branchiooculofacial syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11742"	"TFAP2A"	"OMIM:113620"	"branchiooculofacial syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 13:38:32"	""	""	"20150232, 21204207, 21539471, 21728810, 23578821, 8622766"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFAP2A0BOFS"	"2023-11-30"
"GENCC_000106-HGNC_16803-OMIM_620270-HP_0000007-GENCC_100002"	"HGNC:16803"	"UBE3C"	"MONDO:0859519"	"neurodevelopmental disorder with absent speech and movement and behavioral abnormalities"	"OMIM:620270"	"Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16803"	"UBE3C"	"OMIM:620270"	"Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:42:44"	""	""	"36401616"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBE3C0MRXSCH"	"2023-11-30"
"GENCC_000106-HGNC_11758-OMIM_604484-HP_0000006-GENCC_100002"	"HGNC:11758"	"TFG"	"MONDO:0011468"	"hereditary motor and sensory neuropathy, Okinawa type"	"OMIM:604484"	"Hereditary motor and sensory neuropathy, Okinawa type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11758"	"TFG"	"OMIM:604484"	"Hereditary motor and sensory neuropathy, Okinawa type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-17 12:21:02"	""	""	"22883144, 23553329, 25098539, 25725944, 27653917, 30373780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFG0HMSNO"	"2023-11-30"
"GENCC_000106-HGNC_11758-OMIM_615658-HP_0000007-GENCC_100002"	"HGNC:11758"	"TFG"	"MONDO:0014295"	"hereditary spastic paraplegia 57"	"OMIM:615658"	"?Spastic paraplegia 57, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11758"	"TFG"	"OMIM:615658"	"?Spastic paraplegia 57, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-28 18:09:16"	""	""	"23479643, 27492651, 27601211, 28124177"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFG0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_11763-OMIM_616740-HP_0000005-GENCC_100004"	"HGNC:11763"	"TFRC"	"MONDO:0014760"	"TFRC-related combined immunodeficiency"	"OMIM:616740"	"Immunodeficiency 46"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11763"	"TFRC"	"OMIM:616740"	"Immunodeficiency 46"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:21:39"	""	""	"26642240, 29501613, 32851577"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TFRC0CID"	"2023-11-30"
"GENCC_000106-HGNC_11766-OMIM_131300-HP_0000006-GENCC_100002"	"HGNC:11766"	"TGFB1"	"MONDO:0007542"	"Camurati-Engelmann disease"	"OMIM:131300"	"Camurati-Engelmann disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11766"	"TGFB1"	"OMIM:131300"	"Camurati-Engelmann disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 13:14:39"	""	""	"10973241, 11062463, 11278244, 12493741, 12843182, 15103729, 15326622, 15894597, 19584867, 21541994, 22712665, 27577878, 29230158"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGFB10Camurati"	"2023-11-30"
"GENCC_000106-HGNC_11766-OMIM_618213-HP_0000007-GENCC_100002"	"HGNC:11766"	"TGFB1"	"MONDO:0032601"	"inflammatory bowel disease, immunodeficiency, and encephalopathy"	"OMIM:618213"	"Inflammatory bowel disease, immunodeficiency, and encephalopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11766"	"TGFB1"	"OMIM:618213"	"inflammatory bowel disease, immunodeficiency, and encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"29483653"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGFB10IBDIMDE"	"2023-11-30"
"GENCC_000106-HGNC_11769-OMIM_615582-HP_0000006-GENCC_100002"	"HGNC:11769"	"TGFB3"	"MONDO:0014262"	"Rienhoff syndrome"	"OMIM:615582"	"Loeys-Dietz syndrome 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11769"	"TGFB3"	"OMIM:615582"	"Rienhoff syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-28 22:12:38"	""	""	"23824657, 24798638, 25835445, 26188975"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGFB30LoeysDietz"	"2023-11-30"
"GENCC_000106-HGNC_11771-OMIM_121900-HP_0000006-GENCC_100002"	"HGNC:11771"	"TGFBI"	"MONDO:0007377"	"granular corneal dystrophy type I"	"OMIM:121900"	"Corneal dystrophy, Groenouw type I"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11771"	"TGFBI"	"OMIM:121900"	"granular corneal dystrophy type I"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-14 13:44:41"	""	""	"1079207, 11857735, 11923233, 21135107, 21462125, 22605926, 25932442, 9054935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGFBI0CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_11772-OMIM_609192-HP_0000006-GENCC_100002"	"HGNC:11772"	"TGFBR1"	"MONDO:0012212"	"Loeys-Dietz syndrome 1"	"OMIM:609192"	"Loeys-Dietz syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11772"	"TGFBR1"	"OMIM:609192"	"Loeys-Dietz syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 20:09:02"	""	""	"16928994, 18781618, 20838339, 21358634"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGFBR10LoeysDietz"	"2023-11-30"
"GENCC_000106-HGNC_11772-OMIM_132800-HP_0000006-GENCC_100002"	"HGNC:11772"	"TGFBR1"	"MONDO:0007566"	"multiple self-healing squamous epithelioma"	"OMIM:132800"	"{Multiple self-healing squamous epithelioma, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11772"	"TGFBR1"	"OMIM:132800"	"multiple self-healing squamous epithelioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 09:10:15"	""	""	"21358634"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGFBR10loss"	"2023-11-30"
"GENCC_000106-HGNC_11773-OMIM_610168-HP_0000006-GENCC_100002"	"HGNC:11773"	"TGFBR2"	"MONDO:0012427"	"Loeys-Dietz syndrome 2"	"OMIM:610168"	"Loeys-Dietz syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11773"	"TGFBR2"	"OMIM:610168"	"Loeys-Dietz syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-12-03 00:07:05"	""	""	"15235604, 15731757, 1.58714E+15, 16928994, 17470566, 18781618, 20838339, 21098638"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGFBR20LoeysDietz"	"2023-11-30"
"GENCC_000106-HGNC_11777-OMIM_242300-HP_0000007-GENCC_100002"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"OMIM:242300"	"Ichthyosis, congenital, autosomal recessive 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11777"	"TGM1"	"OMIM:242300"	"autosomal recessive congenital ichthyosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-20 01:01:03"	""	""	"12542526, 18948357, 19241467, 19500103, 20301593, 9448282"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TGM10Ichthyos"	"2023-11-30"
"GENCC_000106-HGNC_11784-OMIM_614486-HP_0000005-GENCC_100004"	"HGNC:11784"	"THBD"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"OMIM:614486"	"Thrombophilia 12 due to thrombomodulin defect"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11784"	"THBD"	"OMIM:614486"	"thrombomodulin-related bleeding disorder"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-19 12:32:40"	""	""	"10627464, 22036808, 23332921, 25049278, 25564403, 7846065"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THBD0Thrombophilia"	"2023-11-30"
"GENCC_000106-HGNC_11795-OMIM_187950-HP_0000006-GENCC_100002"	"HGNC:11795"	"THPO"	"MONDO:0008554"	"thrombocythemia 1"	"OMIM:187950"	"Thrombocythemia, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11795"	"THPO"	"OMIM:187950"	"thrombocythemia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:30"	""	""	"10583217, 18367486, 22194398, 22453305, 224533050, 9425899, 9694695"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THPO0Thrombocythemia"	"2023-11-30"
"GENCC_000106-HGNC_2261-OMIM_620275-HP_0000005-GENCC_100004"	"HGNC:2261"	"COX11"	"MONDO:0859520"	"mitochondrial complex IV deficiency, nuclear type 23"	"OMIM:620275"	"Mitochondrial complex IV deficiency, nuclear type 23"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:2261"	"COX11"	"OMIM:620275"	"Mitochondrial complex IV deficiency, nuclear type 23"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-11 21:30:33"	""	""	"30148842, 36030551"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"COX110MitoEncephalo"	"2023-11-30"
"GENCC_000106-HGNC_11799-OMIM_274300-HP_0000007-GENCC_100004"	"HGNC:11799"	"THRB"	"MONDO:0010131"	"thyroid hormone resistance, generalized, autosomal recessive"	"OMIM:274300"	"Thyroid hormone resistance, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11799"	"THRB"	"OMIM:274300"	"Thyroid hormone resistance, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-01-17 10:45:45"	""	""	"8157732, 1991834, 8670802"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"THRB0ThyroidH02"	"2023-11-30"
"GENCC_000106-HGNC_14293-OMIM_620277-HP_0000005-GENCC_100004"	"HGNC:14293"	"TEKT3"	"MONDO:0859522"	"spermatogenic failure 81"	"OMIM:620277"	"Spermatogenic failure 81"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14293"	"TEKT3"	"OMIM:620277"	"Spermatogenic failure 81"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-29 18:24:39"	""	""	"18951373, 36708031"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TEKT30Astheno"	"2023-11-30"
"GENCC_000106-HGNC_11924-OMIM_620282-HP_0000007-GENCC_100002"	"HGNC:11924"	"TNFRSF9"	"MONDO:0859526"	"immunodeficiency 109 with lymphoproliferation"	"OMIM:620282"	"Immunodeficiency 109 with lymphoproliferation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11924"	"TNFRSF9"	"OMIM:620282"	"Immunodeficiency 109 with lymphoproliferation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:36:13"	""	""	"282570, 30872117, 31501153"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF90EBVlymph"	"2023-11-30"
"GENCC_000106-HGNC_19987-OMIM_620283-HP_0000005-GENCC_100004"	"HGNC:19987"	"EPHA10"	"MONDO:0859527"	"hearing loss, autosomal dominant 88"	"OMIM:620283"	"?Deafness, autosomal dominant 88"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:19987"	"EPHA10"	"OMIM:620283"	"?Deafness, autosomal dominant 88"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-29 18:30:11"	""	""	"21651318, 36048850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"EPHA100Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11802-OMIM_619133-HP_0000005-GENCC_100004"	"HGNC:11802"	"TIA1"	"MONDO:0030885"	"amyotrophic lateral sclerosis 26 with or without frontotemporal dementia"	"OMIM:619133"	"Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11802"	"TIA1"	"OMIM:619133"	"Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-01-15 15:58:17"	""	""	"282838, 28817800, 29216908"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIA10ALS"	"2023-11-30"
"GENCC_000106-HGNC_11802-OMIM_604454-HP_0000006-GENCC_100002"	"HGNC:11802"	"TIA1"	"MONDO:0011466"	"distal myopathy, Welander type"	"OMIM:604454"	"Welander distal myopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11802"	"TIA1"	"OMIM:604454"	"Welander distal myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-06-22 13:23:54"	""	""	"23348830, 23401021, 251450, 28817800, 30348840, 9608564"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIA10DistalMyop"	"2023-11-30"
"GENCC_000106-HGNC_797-OMIM_620284-HP_0000006-GENCC_100004"	"HGNC:797"	"ATOH1"	"MONDO:0859528"	"hearing loss, autosomal dominant 89"	"OMIM:620284"	"?Deafness, autosomal dominant 89"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:797"	"ATOH1"	"OMIM:620284"	"?Deafness, autosomal dominant 89"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-29 18:29:09"	""	""	"33111345"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATOH10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_11809-OMIM_619401-HP_0000005-GENCC_100004"	"HGNC:11809"	"TIE1"	"MONDO:0030316"	"lymphatic malformation 11"	"OMIM:619401"	"Lymphatic malformation 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11809"	"TIE1"	"OMIM:619401"	"lymphatic malformation 11"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-07-07 11:52:04"	""	""	"29555671, 31785789, 32947856, 37096293, 7596437"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIE10TIE1rel"	"2023-11-30"
"GENCC_000106-HGNC_17317-OMIM_618851-HP_0000005-GENCC_100004"	"HGNC:17317"	"TIMM22"	"MONDO:0030017"	"combined oxidative phosphorylation deficiency 43"	"OMIM:618851"	"?Combined oxidative phosphorylation deficiency 43"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17317"	"TIMM22"	"OMIM:618851"	"combined oxidative phosphorylation deficiency 43"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-30 08:12:30"	""	""	"30452684"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TIMM220TIMM22rel"	"2023-11-30"
"GENCC_000106-HGNC_11824-OMIM_613990-HP_0000006-GENCC_100002"	"HGNC:11824"	"TINF2"	"MONDO:0013522"	"dyskeratosis congenita, autosomal dominant 3"	"OMIM:613990"	"Dyskeratosis congenita, autosomal dominant 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11824"	"TINF2"	"OMIM:613990"	"dyskeratosis congenita, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-07 15:40:00"	""	""	"1099274, 1312019, 2052019, 18252230, 18669893, 21199492, 21477109, 21536674, 26136524, 2810286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TINF20DKC"	"2023-11-30"
"GENCC_000106-HGNC_11828-OMIM_615878-HP_0000007-GENCC_100002"	"HGNC:11828"	"TJP2"	"MONDO:0014381"	"cholestasis, progressive familial intrahepatic, 4"	"OMIM:615878"	"Cholestasis, progressive familial intrahepatic 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11828"	"TJP2"	"OMIM:615878"	"cholestasis, progressive familial intrahepatic, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-12-02 11:16:26"	""	""	"24614073, 25921221, 28039895"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TJP20Cholestasis"	"2023-11-30"
"GENCC_000106-HGNC_11828-OMIM_607748-HP_0000005-GENCC_100004"	"HGNC:11828"	"TJP2"	"MONDO:0031446"	"hypercholanemia, familial 1"	"OMIM:607748"	"Hypercholanemia, familial 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11828"	"TJP2"	"OMIM:607748"	"familial hypercholanemia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:05"	""	""	"12704386, 24614073, 27959697, 28039895"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TJP20Hypercholanemia"	"2023-11-30"
"GENCC_000106-HGNC_11831-OMIM_609560-HP_0000007-GENCC_100002"	"HGNC:11831"	"TK2"	"MONDO:0012301"	"mitochondrial DNA depletion syndrome, myopathic form"	"OMIM:609560"	"Mitochondrial DNA depletion syndrome 2 (myopathic type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11831"	"TK2"	"OMIM:609560"	"mitochondrial DNA depletion syndrome, myopathic form"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-09 21:26:17"	""	""	"12655576, 18434326, 18467430, 18508266, 20421844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TK20MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_11834-OMIM_617044-HP_0000007-GENCC_100002"	"HGNC:11834"	"TKT"	"MONDO:0014881"	"transketolase deficiency"	"OMIM:617044"	"Short stature, developmental delay, and congenital heart defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11834"	"TKT"	"OMIM:617044"	"transketolase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:58"	""	""	"27259054"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TKT0ShortSta03"	"2023-11-30"
"GENCC_000106-HGNC_11849-OMIM_613002-HP_0000005-GENCC_100004"	"HGNC:11849"	"TLR3"	"MONDO:0800187"	"immunodeficiency 83, susceptibility to viral infections"	"OMIM:613002"	"{Immunodeficiency 83, susceptibility to viral infections}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11849"	"TLR3"	"OMIM:613002"	"{Immunodeficiency 83, susceptibility to viral infections}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 11:35:19"	""	""	"17872438, 20472559, 21911422, 25339207, 26513235, 31488627"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TLR30Herpes"	"2023-11-30"
"GENCC_000106-HGNC_11277-OMIM_620285-HP_0000006-GENCC_100002"	"HGNC:11277"	"SPTLC1"	"MONDO:0859529"	"amyotrophic lateral sclerosis 27, juvenile"	"OMIM:620285"	"Amyotrophic lateral sclerosis 27, juvenile"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11277"	"SPTLC1"	"OMIM:620285"	"Amyotrophic lateral sclerosis 27, juvenile"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 18:34:59"	""	""	"34059824, 34459874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTLC10ALS"	"2023-11-30"
"GENCC_000106-HGNC_6915-OMIM_620286-HP_0000006-GENCC_100002"	"HGNC:6915"	"MB"	"MONDO:0859530"	"myopathy, sarcoplasmic body"	"OMIM:620286"	"Myopathy, sarcoplasmic body"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:6915"	"MB"	"OMIM:620286"	"Myopathy, sarcoplasmic body"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-17 19:14:33"	""	""	"30918256"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MB0Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_18188-OMIM_213980-HP_0000007-GENCC_100002"	"HGNC:18188"	"TMCO1"	"MONDO:0800436"	"craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1"	"OMIM:213980"	"Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18188"	"TMCO1"	"OMIM:213980"	"cerebrofaciothoracic dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-02 13:42:58"	""	""	"20018682, 23320496, 24194475, 24424126, 24424156, 27212239"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMCO10Craniofa"	"2023-11-30"
"GENCC_000106-HGNC_3262-OMIM_620292-HP_0000006-GENCC_100002"	"HGNC:3262"	"AGO1"	"MONDO:0859531"	"neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"	"OMIM:620292"	"Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:3262"	"AGO1"	"OMIM:620292"	"Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 17:21:23"	""	""	"23020937, 25271087, 25356899, 27620904, 28135719, 28191890, 30213762, 34930816"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AGO10AGO1rel"	"2023-11-30"
"GENCC_000106-HGNC_9107-OMIM_620294-HP_0000007-GENCC_100002"	"HGNC:9107"	"PLXND1"	"MONDO:0859532"	"congenital heart defects, multiple types, 9"	"OMIM:620294"	"Congenital heart defects, multiple types, 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9107"	"PLXND1"	"OMIM:620294"	"Congenital heart defects, multiple types, 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 18:26:36"	""	""	"24254849, 35396997"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"PLXND10TA"	"2023-11-30"
"GENCC_000106-HGNC_30883-OMIM_618250-HP_0000007-GENCC_100002"	"HGNC:30883"	"TMEM126B"	"MONDO:0032633"	"mitochondrial complex 1 deficiency, nuclear type 29"	"OMIM:618250"	"Mitochondrial complex I deficiency, nuclear type 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30883"	"TMEM126B"	"OMIM:618250"	"mitochondrial complex 1 deficiency, nuclear type 29"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-01-21 16:21:14"	""	""	"27374773, 27374774"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM126B0Mitochon"	"2023-11-30"
"GENCC_000106-HGNC_4840-OMIM_620296-HP_0000005-GENCC_100004"	"HGNC:4840"	"HCK"	"MONDO:0957204"	"autoinflammation with pulmonary and cutaneous vasculitis"	"OMIM:620296"	"Autoinflammation with pulmonary and cutaneous vasculitis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:4840"	"HCK"	"OMIM:620296"	"Autoinflammation with pulmonary and cutaneous vasculitis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-29 18:48:57"	""	""	"31785789, 34536415"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"HCK0HCKrel"	"2023-11-30"
"GENCC_000106-HGNC_11016-OMIM_620306-HP_0000005-GENCC_100004"	"HGNC:11016"	"SLC31A1"	"MONDO:0957211"	"neurodegeneration and seizures due to copper transport defect"	"OMIM:620306"	"Neurodegeneration and seizures due to copper transport defect"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11016"	"SLC31A1"	"OMIM:620306"	"Neurodegeneration and seizures due to copper transport defect"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-29 18:50:06"	""	""	"21882292, 21937992, 27923875, 28703315, 35913762"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SLC31A10SLC31A1rel"	"2023-11-30"
"GENCC_000106-HGNC_27962-OMIM_615934-HP_0000006-GENCC_100002"	"HGNC:27962"	"STING1"	"MONDO:0014405"	"STING-associated vasculopathy with onset in infancy"	"OMIM:615934"	"STING-associated vasculopathy, infantile-onset"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:27962"	"STING1"	"OMIM:615934"	"STING-associated vasculopathy with onset in infancy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:30"	""	""	"18724357, 25029335, 25401470"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM1730STING"	"2023-11-30"
"GENCC_000106-HGNC_25018-OMIM_608091-HP_0000007-GENCC_100002"	"HGNC:25018"	"TMEM216"	"MONDO:0011963"	"Joubert syndrome 2"	"OMIM:608091"	"Joubert syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25018"	"TMEM216"	"OMIM:608091"	"Joubert syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"20512146, 22282472, 26092869"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM2160Joubert"	"2023-11-30"
"GENCC_000106-HGNC_19946-OMIM_620316-HP_0000007-GENCC_100002"	"HGNC:19946"	"CAMSAP1"	"MONDO:0957217"	"cortical dysplasia, complex, with other brain malformations 12"	"OMIM:620316"	"Cortical dysplasia, complex, with other brain malformations 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19946"	"CAMSAP1"	"OMIM:620316"	"Cortical dysplasia, complex, with other brain malformations 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-30 18:00:45"	""	""	"25363768, 28472652, 36283405"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"CAMSAP10CAMSAP1rel"	"2023-11-30"
"GENCC_000106-HGNC_25363-OMIM_619470-HP_0000007-GENCC_100002"	"HGNC:25363"	"TMEM222"	"MONDO:0859176"	"neurodevelopmental disorder with motor and speech delay and behavioral abnormalities"	"OMIM:619470"	"Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25363"	"TMEM222"	"OMIM:619470"	"neurodevelopmental disorder with motor and speech delay and behavioral abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 06:36:46"	""	""	"27457812, 33824500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM2220ID"	"2023-11-30"
"GENCC_000106-HGNC_37234-OMIM_614970-HP_0000007-GENCC_100002"	"HGNC:37234"	"TMEM231"	"MONDO:0013994"	"Joubert syndrome 20"	"OMIM:614970"	"Joubert syndrome 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:37234"	"TMEM231"	"OMIM:614970"	"Joubert syndrome 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"23012439, 23349226"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM2310Joubert"	"2023-11-30"
"GENCC_000106-HGNC_6898-OMIM_620323-HP_0000005-GENCC_100004"	"HGNC:6898"	"MARS1"	"MONDO:0957221"	"spastic paraplegia 70, autosomal recessive"	"OMIM:620323"	"Spastic paraplegia 70, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:6898"	"MARS1"	"OMIM:620323"	"Spastic paraplegia 70, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-09 16:29:39"	""	""	"24482476, 34585293"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MARS0HSP"	"2023-11-30"
"GENCC_000106-HGNC_28472-OMIM_604400-HP_0000006-GENCC_100002"	"HGNC:28472"	"TMEM43"	"MONDO:0011459"	"arrhythmogenic right ventricular dysplasia 5"	"OMIM:604400"	"Arrhythmogenic right ventricular dysplasia 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28472"	"TMEM43"	"OMIM:604400"	"arrhythmogenic right ventricular dysplasia 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-11 14:14:25"	""	""	"18313022"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM430ARVDC"	"2023-11-30"
"GENCC_000106-HGNC_32687-OMIM_620327-HP_0000007-GENCC_100002"	"HGNC:32687"	"MED11"	"MONDO:0957225"	"neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities"	"OMIM:620327"	"Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:32687"	"MED11"	"OMIM:620327"	"Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 21:10:16"	""	""	"36001086"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"MED110MED11Neurodegen"	"2023-11-30"
"GENCC_000106-HGNC_28472-OMIM_614302-HP_0000006-GENCC_100004"	"HGNC:28472"	"TMEM43"	"MONDO:0013677"	"Emery-Dreifuss muscular dystrophy 7, autosomal dominant"	"OMIM:614302"	"Emery-Dreifuss muscular dystrophy 7, AD"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:28472"	"TMEM43"	"OMIM:614302"	"Emery-Dreifuss muscular dystrophy 7, AD"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-24 14:56:59"	""	""	"21391237, 30311943"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM430Emery0EDMD"	"2023-11-30"
"GENCC_000106-HGNC_26186-OMIM_619727-HP_0000007-GENCC_100002"	"HGNC:26186"	"TMEM53"	"MONDO:0859226"	"craniotubular dysplasia, Ikegawa type"	"OMIM:619727"	"Craniotubular dysplasia, Ikegawa type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26186"	"TMEM53"	"OMIM:619727"	"Craniotubular dysplasia, Ikegawa type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:55:17"	""	""	"33824347"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM530CranioTubDys"	"2023-11-30"
"GENCC_000106-HGNC_28396-OMIM_610688-HP_0000007-GENCC_100002"	"HGNC:28396"	"TMEM67"	"MONDO:0012539"	"Joubert syndrome 6"	"OMIM:610688"	"Joubert syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28396"	"TMEM67"	"OMIM:610688"	"Joubert syndrome 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-21 06:50:16"	""	""	"20232449"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM670Joubert"	"2023-11-30"
"GENCC_000106-HGNC_28396-OMIM_613550-HP_0000007-GENCC_100002"	"HGNC:28396"	"TMEM67"	"MONDO:0013302"	"nephronophthisis 11"	"OMIM:613550"	"Nephronophthisis 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28396"	"TMEM67"	"OMIM:613550"	"nephronophthisis 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-31 07:55:45"	""	""	"19508969, 23559409, 29891882"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TMEM670Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_25777-OMIM_620330-HP_0000006-GENCC_100002"	"HGNC:25777"	"RFX7"	"MONDO:0957228"	"intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities"	"OMIM:620330"	"Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:25777"	"RFX7"	"OMIM:620330"	"Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-03 20:14:03"	""	""	"25363768, 28135719, 28191890, 29717269, 33658631"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RFX70RFX7rel"	"2023-11-30"
"GENCC_000106-HGNC_18648-OMIM_620331-HP_0000007-GENCC_100002"	"HGNC:18648"	"DPP9"	"MONDO:0957229"	"hatipoglu immunodeficiency syndrome"	"OMIM:620331"	"Hatipoglu immunodeficiency syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18648"	"DPP9"	"OMIM:620331"	"Hatipoglu immunodeficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-11 13:49:09"	""	""	"28135719, 28191890, 36112693"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DPP90DPP9rel"	"2023-11-30"
"GENCC_000106-HGNC_11905-OMIM_275355-HP_0000005-GENCC_100004"	"HGNC:11905"	"TNFRSF10B"	"MONDO:0010150"	"head and neck squamous cell carcinoma"	"OMIM:275355"	"Squamous cell carcinoma, head and neck, somatic"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11905"	"TNFRSF10B"	"OMIM:275355"	"head and neck squamous cell carcinoma"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:47"	""	""	"9721851"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF10B0Squamous"	"2023-11-30"
"GENCC_000106-HGNC_22948-OMIM_620332-HP_0000005-GENCC_100004"	"HGNC:22948"	"NLRP2"	"MONDO:0957230"	"oocyte/zygote/embryo maturation arrest 18"	"OMIM:620332"	"Oocyte/zygote/embryo maturation arrest 18"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:22948"	"NLRP2"	"OMIM:620332"	"Oocyte/zygote/embryo maturation arrest 18"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-30 11:47:48"	""	""	"19300480, 22295082, 29574422, 30221575, 30877238"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRP20NLRP2rel"	"2023-11-30"
"GENCC_000106-HGNC_11908-OMIM_612301-HP_0000007-GENCC_100002"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0012859"	"autosomal recessive osteopetrosis 7"	"OMIM:612301"	"Osteopetrosis, autosomal recessive 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11908"	"TNFRSF11A"	"OMIM:612301"	"autosomal recessive osteopetrosis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-03 08:55:54"	""	""	"10677500, 18606301, 22271396"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF11A0Osteopetrosis"	"2023-11-30"
"GENCC_000106-HGNC_18153-OMIM_240500-HP_0000006-GENCC_100004"	"HGNC:18153"	"TNFRSF13B"	"MONDO:0009413"	"immunodeficiency, common variable, 2"	"OMIM:240500"	"Immunodeficiency, common variable, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18153"	"TNFRSF13B"	"OMIM:240500"	"common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-09-25 19:02:25"	""	""	"26563668, 27250108"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF13B0CVID02"	"2023-11-30"
"GENCC_000106-HGNC_21269-OMIM_620333-HP_0000007-GENCC_100002"	"HGNC:21269"	"NLRP5"	"MONDO:0957231"	"oocyte/zygote/embryo maturation arrest 19"	"OMIM:620333"	"Oocyte/zygote/embryo maturation arrest 19"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21269"	"NLRP5"	"OMIM:620333"	"Oocyte/zygote/embryo maturation arrest 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-18 21:38:06"	""	""	"11062459, 26585895, 30877238, 32172300, 32222962, 33073652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NLRP50EEA"	"2023-11-30"
"GENCC_000106-HGNC_11918-OMIM_615593-HP_0000005-GENCC_100004"	"HGNC:11918"	"TNFRSF4"	"MONDO:0014268"	"combined immunodeficiency due to OX40 deficiency"	"OMIM:615593"	"?Immunodeficiency 16"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11918"	"TNFRSF4"	"OMIM:615593"	"combined immunodeficiency due to OX40 deficiency"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:45"	""	""	"23897980"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNFRSF40CID"	"2023-11-30"
"GENCC_000106-HGNC_30765-OMIM_617028-HP_0000005-GENCC_100004"	"HGNC:30765"	"TNIK"	"MONDO:0014876"	"intellectual disability, autosomal recessive 54"	"OMIM:617028"	"Intellectual developmental disorder, autosomal recessive 54"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30765"	"TNIK"	"OMIM:617028"	"intellectual disability, autosomal recessive 54"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"23035106, 25753355, 27106596"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNIK0ID"	"2023-11-30"
"GENCC_000106-HGNC_11943-OMIM_611879-HP_0000006-GENCC_100002"	"HGNC:11943"	"TNNC1"	"MONDO:0012745"	"dilated cardiomyopathy 1Z"	"OMIM:611879"	"Cardiomyopathy, dilated, 1Z"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11943"	"TNNC1"	"OMIM:611879"	"dilated cardiomyopathy 1Z"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-01 20:50:59"	""	""	"12923187, 15542288, 18212018, 18572189, 19439414, 20215591, 20458010, 20459070, 20566645, 21262074, 21832052"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNC10DCM"	"2023-11-30"
"GENCC_000106-HGNC_11943-OMIM_613243-HP_0000006-GENCC_100002"	"HGNC:11943"	"TNNC1"	"MONDO:0013195"	"hypertrophic cardiomyopathy 13"	"OMIM:613243"	"Cardiomyopathy, hypertrophic, 13"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11943"	"TNNC1"	"OMIM:613243"	"hypertrophic cardiomyopathy 13"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 08:55:48"	""	""	"18572189, 19439414, 20459070, 20566645, 21262074"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNC10HCM"	"2023-11-30"
"GENCC_000106-HGNC_10591-OMIM_620351-HP_0000007-GENCC_100002"	"HGNC:10591"	"SCN4A"	"MONDO:0957247"	"congenital myopathy 22A, classic"	"OMIM:620351"	"Congenital myopathy 22A, classic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:10591"	"SCN4A"	"OMIM:620351"	"Congenital myopathy 22A, classic"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-17 19:26:54"	""	""	"26700687"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SCN4A0CM"	"2023-11-30"
"GENCC_000106-HGNC_2972-OMIM_620352-HP_0000007-GENCC_100002"	"HGNC:2972"	"DNM1"	"MONDO:0957248"	"developmental and epileptic encephalopathy, 31B"	"OMIM:620352"	"Developmental and epileptic encephalopathy 31B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:2972"	"DNM1"	"OMIM:620352"	"Developmental and epileptic encephalopathy 31B, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-29 21:02:05"	""	""	"34172529, 36553519"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"DNM10EIEE"	"2023-11-30"
"GENCC_000106-HGNC_373-OMIM_620353-HP_0000005-GENCC_100004"	"HGNC:373"	"AKAP3"	"MONDO:0957249"	"spermatogenic failure 82"	"OMIM:620353"	"Spermatogenic failure 82"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:373"	"AKAP3"	"OMIM:620353"	"Spermatogenic failure 82"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-30 16:21:53"	""	""	"25877373, 31969357, 35228300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AKAP30AKAP3rel"	"2023-11-30"
"GENCC_000106-HGNC_11947-OMIM_611880-HP_0000007-GENCC_100002"	"HGNC:11947"	"TNNI3"	"MONDO:0012746"	"dilated cardiomyopathy 2A"	"OMIM:611880"	"?Cardiomyopathy, dilated, 2A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11947"	"TNNI3"	"OMIM:611880"	"dilated cardiomyopathy 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-29 19:48:52"	""	""	"15070570, 30953456, 31568572, 34036930, 35838873"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNI30DCM02"	"2023-11-30"
"GENCC_000106-HGNC_11947-OMIM_613690-HP_0000006-GENCC_100002"	"HGNC:11947"	"TNNI3"	"MONDO:0013369"	"hypertrophic cardiomyopathy 7"	"OMIM:613690"	"Cardiomyopathy, hypertrophic, 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11947"	"TNNI3"	"OMIM:613690"	"hypertrophic cardiomyopathy 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-20 08:54:41"	""	""	"11055985, 11273720, 11724573, 11735257, 12707239, 12860912, 14596793, 15607392, 18006163, 18467357, 18533079, 19914256, 20624503, 21835320, 22027658, 22675533, 226755333, 22876777, 22958901, 24793961, 25132132, 25163546, 25524337, 26688388, 28152038, 28174160, 28436080, 30165862, 30297972, 9241277"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNI30HCM"	"2023-11-30"
"GENCC_000106-HGNC_19661-OMIM_616117-HP_0000006-GENCC_100002"	"HGNC:19661"	"TNNI3K"	"MONDO:0014500"	"atrial conduction disease"	"OMIM:616117"	"Cardiac conduction disease with or without dilated cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19661"	"TNNI3K"	"OMIM:616117"	"atrial conduction disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:41"	""	""	"24925317, 25791106, 29355681, 30010057, 32529721"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNI3K0CCDD"	"2023-11-30"
"GENCC_000106-HGNC_11948-OMIM_620389-HP_0000006-GENCC_100004"	"HGNC:11948"	"TNNT1"	"MONDO:0957284"	"nemaline myopathy 5C, autosomal dominant"	"OMIM:620389"	"Nemaline myopathy 5C, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11948"	"TNNT1"	"OMIM:620389"	"Nemaline myopathy 5C, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 14:31:49"	""	""	"29178646"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNT10NEM0Nemaline02"	"2023-11-30"
"GENCC_000106-HGNC_11949-OMIM_601494-HP_0000006-GENCC_100002"	"HGNC:11949"	"TNNT2"	"MONDO:0011095"	"dilated cardiomyopathy 1D"	"OMIM:601494"	"Left ventricular noncompaction 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11949"	"TNNT2"	"OMIM:601494"	"dilated cardiomyopathy 1D"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-21 12:27:58"	""	""	"10449439, 10617660, 14722098, 15542288, 22027658, 22455086, 22857948, 23396983, 23494605, 23663841, 24503780, 24992688, 7981753, 8205619, 9060892, 9242456, 9637714"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNT20DCM"	"2023-11-30"
"GENCC_000106-HGNC_11949-OMIM_115195-HP_0000006-GENCC_100002"	"HGNC:11949"	"TNNT2"	"MONDO:0007266"	"hypertrophic cardiomyopathy 2"	"OMIM:115195"	"Cardiomyopathy, hypertrophic, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11949"	"TNNT2"	"OMIM:115195"	"hypertrophic cardiomyopathy 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 14:52:48"	""	""	"10449439, 10617660, 12707239, 12860912, 14722098, 18533079, 20624503, 22027658, 22455086, 22857948, 23396983, 23494605, 23663841, 7981753, 8205619, 9060892, 9242456, 9637714"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNT20HCM"	"2023-11-30"
"GENCC_000106-HGNC_11949-OMIM_612422-HP_0000006-GENCC_100002"	"HGNC:11949"	"TNNT2"	"MONDO:0012900"	"cardiomyopathy, familial restrictive, 3"	"OMIM:612422"	"Cardiomyopathy, familial restrictive, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11949"	"TNNT2"	"OMIM:612422"	"Cardiomyopathy, familial restrictive, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-07-11 09:10:29"	""	""	"18467357, 21502316, 281494, 29907873, 32098556"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNT20RCM"	"2023-11-30"
"GENCC_000106-HGNC_11950-OMIM_601680-HP_0000006-GENCC_100002"	"HGNC:11950"	"TNNT3"	"MONDO:0020820"	"distal arthrogryposis type 2B1"	"OMIM:601680"	"Arthrogryposis, distal, type 2B1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11950"	"TNNT3"	"OMIM:601680"	"distal arthrogryposis type 2B1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-14 12:09:11"	""	""	"12865991, 17194691, 19142688, 21402185, 23401156, 25337069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNNT30Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_19998-OMIM_619556-HP_0000006-GENCC_100002"	"HGNC:19998"	"TNPO2"	"MONDO:0859197"	"intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies"	"OMIM:619556"	"Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19998"	"TNPO2"	"OMIM:619556"	"Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 07:39:31"	""	""	"23033978, 34314705"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNPO20ID"	"2023-11-30"
"GENCC_000106-HGNC_11953-OMIM_619653-HP_0000007-GENCC_100002"	"HGNC:11953"	"TNR"	"MONDO:0859212"	"neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus"	"OMIM:619653"	"Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11953"	"TNR"	"OMIM:619653"	"Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-18 11:28:01"	""	""	"12882316, 14529817, 22730557, 24291026, 28334938, 32099069"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNR0TNRrelated"	"2023-11-30"
"GENCC_000106-HGNC_11969-OMIM_618074-HP_0000005-GENCC_100004"	"HGNC:11969"	"TNRC6A"	"MONDO:0054846"	"epilepsy, familial adult myoclonic, 6"	"OMIM:618074"	"?Epilepsy, familial adult myoclonic, 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11969"	"TNRC6A"	"OMIM:618074"	"?Epilepsy, familial adult myoclonic, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-09-23 14:16:35"	""	""	"29507423, 30351492"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNRC6A0FCMTE"	"2023-11-30"
"GENCC_000106-HGNC_11976-OMIM_615963-HP_0000006-GENCC_100004"	"HGNC:11976"	"TNXB"	"MONDO:0014422"	"vesicoureteral reflux 8"	"OMIM:615963"	"Vesicoureteral reflux 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11976"	"TNXB"	"OMIM:615963"	"Vesicoureteral reflux 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-01 08:42:43"	""	""	"100116, 178724, 202108, 23620400, 26408188"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TNXB0VesicouretRefl"	"2023-11-30"
"GENCC_000106-HGNC_11982-OMIM_619510-HP_0000005-GENCC_100004"	"HGNC:11982"	"TOM1"	"MONDO:0030428"	"immunodeficiency 85 and autoimmunity"	"OMIM:619510"	"?Immunodeficiency 85 and autoimmunity"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:11982"	"TOM1"	"OMIM:619510"	"?Immunodeficiency 85 and autoimmunity"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-12 13:42:39"	""	""	"31263572, 32368696, 33864888"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOM10TOM1rel"	"2023-11-30"
"GENCC_000106-HGNC_11992-OMIM_618098-HP_0000007-GENCC_100002"	"HGNC:11992"	"TOP3A"	"MONDO:0020845"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5"	"OMIM:618098"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11992"	"TOP3A"	"OMIM:618098"	"?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-05 23:18:44"	""	""	"29290614, 34732400, 35812164, 36544354"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOP3A0MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_11992-OMIM_618097-HP_0000007-GENCC_100002"	"HGNC:11992"	"TOP3A"	"MONDO:0020628"	"microcephaly, growth restriction, and increased sister chromatid exchange 2"	"OMIM:618097"	"Microcephaly, growth restriction, and increased sister chromatid exchange 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:11992"	"TOP3A"	"OMIM:618097"	"microcephaly, growth restriction, and increased sister chromatid exchange 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-17 14:27:30"	""	""	"28966033, 30057030"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TOP3A0TOP3Arel"	"2023-11-30"
"GENCC_000106-HGNC_15979-OMIM_620311-HP_0000006-GENCC_100002"	"HGNC:15979"	"TP63"	"MONDO:0957216"	"premature ovarian failure 21"	"OMIM:620311"	"Premature ovarian failure 21"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15979"	"TP63"	"OMIM:620311"	"Premature ovarian failure 21"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 18:09:10"	""	""	"30924587, 35801529"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TP630POI"	"2023-11-30"
"GENCC_000106-HGNC_15979-OMIM_604292-HP_0000006-GENCC_100002"	"HGNC:15979"	"TP63"	"MONDO:0011428"	"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"	"OMIM:604292"	"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15979"	"TP63"	"OMIM:604292"	"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 20:06:00"	""	""	"10227294, 11159940, 11462173, 12037717, 12161593, 18626511, 18634775, 23463580, 34629465"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TP630TP63rel"	"2023-11-30"
"GENCC_000106-HGNC_12010-OMIM_611878-HP_0000006-GENCC_100002"	"HGNC:12010"	"TPM1"	"MONDO:0012744"	"dilated cardiomyopathy 1Y"	"OMIM:611878"	"Cardiomyopathy, dilated, 1Y"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12010"	"TPM1"	"OMIM:611878"	"Cardiomyopathy, dilated, 1Y"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:37:06"	""	""	"10400910, 10900175, 11603924, 22462493, 22464770, 24005378, 24503780, 8205619, 8327508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPM10DCM"	"2023-11-30"
"GENCC_000106-HGNC_12010-OMIM_115196-HP_0000006-GENCC_100002"	"HGNC:12010"	"TPM1"	"MONDO:0007267"	"hypertrophic cardiomyopathy 3"	"OMIM:115196"	"Cardiomyopathy, hypertrophic, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12010"	"TPM1"	"OMIM:115196"	"hypertrophic cardiomyopathy 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-08 12:46:06"	""	""	"10400910, 10900175, 11603924, 12707239, 12860912, 22462493, 24005378, 8205619, 8327508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPM10HCM"	"2023-11-30"
"GENCC_000106-HGNC_12011-OMIM_108120-HP_0000006-GENCC_100002"	"HGNC:12011"	"TPM2"	"MONDO:0007157"	"arthrogryposis, distal, type 1A"	"OMIM:108120"	"Arthrogryposis, distal, type 1A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12011"	"TPM2"	"OMIM:108120"	"arthrogryposis, distal, type 1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:23"	""	""	"17194691, 23401156, 23886664"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPM20Arthrogryposis"	"2023-11-30"
"GENCC_000106-HGNC_12011-OMIM_609285-HP_0000006-GENCC_100002"	"HGNC:12011"	"TPM2"	"MONDO:0012240"	"congenital myopathy 23"	"OMIM:609285"	"Congenital myopathy 23"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12011"	"TPM2"	"OMIM:609285"	"Congenital myopathy 23"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-01 08:18:27"	""	""	"17194691, 19155175, 22084935, 23378224, 23413262, 23886664, 24692096, 27726070"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPM20CM"	"2023-11-30"
"GENCC_000106-HGNC_12012-OMIM_255310-HP_0000006-GENCC_100002"	"HGNC:12012"	"TPM3"	"MONDO:0800341"	"congenital myopathy 4A, autosomal dominant"	"OMIM:255310"	"Congenital myopathy 4A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12012"	"TPM3"	"OMIM:255310"	"congenital fiber-type disproportion myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-06 08:22:21"	""	""	"18300303, 19953533, 22749829, 23886664, 24692096, 26418456"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPM30CM"	"2023-11-30"
"GENCC_000106-HGNC_12016-OMIM_619220-HP_0000007-GENCC_100002"	"HGNC:12016"	"TPP2"	"MONDO:0030971"	"immunodeficiency 78 with autoimmunity and developmental delay"	"OMIM:619220"	"Immunodeficiency 78 with autoimmunity and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12016"	"TPP2"	"OMIM:619220"	"immunodeficiency 78 with autoimmunity and developmental delay"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 12:57:12"	""	""	"18362329, 19638626, 25414442, 25525876, 30968598, 33586135"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPP20TPP2def"	"2023-11-30"
"GENCC_000106-HGNC_12017-OMIM_620393-HP_0000005-GENCC_100004"	"HGNC:12017"	"TPR"	"MONDO:0957288"	"intellectual developmental disorder, autosomal recessive 79"	"OMIM:620393"	"?Intellectual developmental disorder, autosomal recessive 79"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12017"	"TPR"	"OMIM:620393"	"?Intellectual developmental disorder, autosomal recessive 79"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 14:33:05"	""	""	"24082139, 25363768, 28191890, 34494102"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPR0TPRrel"	"2023-11-30"
"GENCC_000106-HGNC_24259-OMIM_617731-HP_0000005-GENCC_100004"	"HGNC:24259"	"TPRKB"	"MONDO:0033009"	"Galloway-Mowat syndrome 5"	"OMIM:617731"	"Galloway-Mowat syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24259"	"TPRKB"	"OMIM:617731"	"Galloway-Mowat syndrome 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-29 08:46:41"	""	""	"22805828, 28805828"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TPRKB0Galloway"	"2023-11-30"
"GENCC_000106-HGNC_12029-OMIM_615387-HP_0000005-GENCC_100004"	"HGNC:12029"	"TRAC"	"MONDO:0014160"	"TCR-alpha-beta-positive T-cell deficiency"	"OMIM:615387"	"Immunodeficiency 7, TCR-alpha/beta deficient"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12029"	"TRAC"	"OMIM:615387"	"Immunodeficiency 7, TCR-alpha/beta deficient"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"21206088, 33909184"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAC0CID"	"2023-11-30"
"GENCC_000106-HGNC_1343-OMIM_615527-HP_0000007-GENCC_100002"	"HGNC:1343"	"TRAF3IP2"	"MONDO:0014230"	"candidiasis, familial, 8"	"OMIM:615527"	"?Candidiasis, familial, 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1343"	"TRAF3IP2"	"OMIM:615527"	"?Candidiasis, familial, 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 14:05:15"	""	""	"18624351, 20660351, 24120361, 31292894, 33359359, 33825088"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAF3IP20Candidiasis"	"2023-11-30"
"GENCC_000106-HGNC_16526-OMIM_620357-HP_0000005-GENCC_100004"	"HGNC:16526"	"ACSL5"	"MONDO:0957253"	"diarrhea 13"	"OMIM:620357"	"?Diarrhea 13"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16526"	"ACSL5"	"OMIM:620357"	"?Diarrhea 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-29 20:57:19"	""	""	"33191500"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ACSL50ACSL5rel"	"2023-11-30"
"GENCC_000106-HGNC_30887-OMIM_618331-HP_0000007-GENCC_100002"	"HGNC:30887"	"TRAPPC2L"	"MONDO:0032681"	"encephalopathy, progressive, early-onset, with episodic rhabdomyolysis"	"OMIM:618331"	"Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30887"	"TRAPPC2L"	"OMIM:618331"	"encephalopathy, progressive, early-onset, with episodic rhabdomyolysis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-03 21:36:46"	""	""	"30120216, 32843486, 36849228"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAPPC2L0TRAPPC2Lrel"	"2023-11-30"
"GENCC_000106-HGNC_23066-OMIM_617862-HP_0000007-GENCC_100002"	"HGNC:23066"	"TRAPPC6B"	"MONDO:0060640"	"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"OMIM:617862"	"Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23066"	"TRAPPC6B"	"OMIM:617862"	"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-19 18:42:37"	""	""	"28626029, 31231135, 31687267, 37713627"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRAPPC6B0Neurodev"	"2023-11-30"
"GENCC_000106-HGNC_17761-OMIM_618193-HP_0000007-GENCC_100002"	"HGNC:17761"	"TREM2"	"MONDO:0020750"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"OMIM:618193"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17761"	"TREM2"	"OMIM:618193"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-11 11:34:11"	""	""	"12080485, 12754369, 12883936, 12925681, 23582655"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TREM20NasiHakola"	"2023-11-30"
"GENCC_000106-HGNC_12269-OMIM_225750-HP_0000007-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0009165"	"Aicardi-Goutieres syndrome 1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1, dominant and recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12269"	"TREX1"	"OMIM:225750"	"Aicardi-Goutieres syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-27 16:11:38"	""	""	"15254239, 16845398, 17293595, 17846997, 22071149, 25138095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TREX10AicardiGoutier"	"2023-11-30"
"GENCC_000106-HGNC_12269-OMIM_610448-HP_0000006-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0012500"	"chilblain lupus 1"	"OMIM:610448"	"Chilblain lupus"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12269"	"TREX1"	"OMIM:610448"	"chilblain lupus 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-25 12:30:26"	""	""	"17357087, 2019956, 22718116, 22829693, 25517357"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TREX10ChilblainLupus"	"2023-11-30"
"GENCC_000106-HGNC_12269-OMIM_192315-HP_0000006-GENCC_100002"	"HGNC:12269"	"TREX1"	"MONDO:0008641"	"retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"	"OMIM:192315"	"Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12269"	"TREX1"	"OMIM:192315"	"retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-07-09 13:19:28"	""	""	"17660820, 21131853, 25213617"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TREX10Vasculopathy"	"2023-11-30"
"GENCC_000106-HGNC_15974-OMIM_615490-HP_0000007-GENCC_100004"	"HGNC:15974"	"TRIM2"	"MONDO:0014208"	"Charcot-Marie-Tooth disease type 2R"	"OMIM:615490"	"Charcot-Marie-Tooth disease, type 2R"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:15974"	"TRIM2"	"OMIM:615490"	"Charcot-Marie-Tooth disease type 2R"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:03"	""	""	"18687884, 23562820, 25893792, 615490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIM20CMT"	"2023-11-30"
"GENCC_000106-HGNC_16380-OMIM_615988-HP_0000007-GENCC_100002"	"HGNC:16380"	"TRIM32"	"MONDO:0014439"	"Bardet-Biedl syndrome 11"	"OMIM:615988"	"?Bardet-Biedl syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16380"	"TRIM32"	"OMIM:615988"	"Bardet-Biedl syndrome 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:57"	""	""	"16606853, 20498079, 24400638, 25351777, 281728"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIM320BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_16380-OMIM_254110-HP_0000007-GENCC_100002"	"HGNC:16380"	"TRIM32"	"MONDO:0009683"	"autosomal recessive limb-girdle muscular dystrophy type 2H"	"OMIM:254110"	"Muscular dystrophy, limb-girdle, autosomal recessive 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16380"	"TRIM32"	"OMIM:254110"	"autosomal recessive limb-girdle muscular dystrophy type 2H"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-26 18:52:12"	""	""	"11822024, 151322, 17994549, 19155210, 19303295, 21496629, 23541687, 251274, 25351777"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIM320LGMD"	"2023-11-30"
"GENCC_000106-HGNC_16280-OMIM_206500-HP_0000005-GENCC_100004"	"HGNC:16280"	"TRIM36"	"MONDO:0008791"	"anencephaly 1"	"OMIM:206500"	"?Anencephaly 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16280"	"TRIM36"	"OMIM:206500"	"?Anencephaly 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-01-02 16:02:43"	""	""	"28087737"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIM360Anenceph"	"2023-11-30"
"GENCC_000106-HGNC_19016-OMIM_617142-HP_0000006-GENCC_100004"	"HGNC:19016"	"TRIM44"	"MONDO:0014938"	"aniridia 3"	"OMIM:617142"	"?Aniridia 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:19016"	"TRIM44"	"OMIM:617142"	"aniridia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-09-04 10:43:41"	""	""	"26394807"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIM440?Aniridi"	"2023-11-30"
"GENCC_000106-HGNC_32669-OMIM_618667-HP_0000006-GENCC_100002"	"HGNC:32669"	"TRIM71"	"MONDO:0032862"	"hydrocephalus, congenital communicating, 1"	"OMIM:618667"	"Hydrocephalus, congenital, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:32669"	"TRIM71"	"OMIM:618667"	"hydrocephalus, congenital communicating, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-25 15:40:15"	""	""	"19098426, 29216221, 29434669, 29983323, 31371437, 33077954"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIM710TRIM71rel"	"2023-11-30"
"GENCC_000106-HGNC_15579-OMIM_619428-HP_0000006-GENCC_100002"	"HGNC:15579"	"TRIM8"	"MONDO:0100111"	"focal segmental glomerulosclerosis and neurodevelopmental syndrome"	"OMIM:619428"	"Focal segmental glomerulosclerosis and neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:15579"	"TRIM8"	"OMIM:619428"	"Focal segmental glomerulosclerosis and neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-20 14:24:54"	""	""	"27346735, 29346770, 30244534, 32193649, 32531461, 33508234"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIM80FSGSNEDS"	"2023-11-30"
"GENCC_000106-HGNC_12303-OMIM_617061-HP_0000006-GENCC_100002"	"HGNC:12303"	"TRIO"	"MONDO:0014892"	"micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"	"OMIM:617061"	"Intellectual developmental disorder, autosomal dominant 44, with microcephaly"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12303"	"TRIO"	"OMIM:617061"	"micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-31 19:19:28"	""	""	"1.55138E+15, 26721934, 27418539, 32109419"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIO0ID"	"2023-11-30"
"GENCC_000106-HGNC_12305-OMIM_200600-HP_0000007-GENCC_100002"	"HGNC:12305"	"TRIP11"	"MONDO:0008701"	"achondrogenesis type IA"	"OMIM:200600"	"Achondrogenesis, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12305"	"TRIP11"	"OMIM:200600"	"achondrogenesis type IA"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-25 11:51:32"	""	""	"20089971, 23956106, 29096039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIP110Achondrogenesis"	"2023-11-30"
"GENCC_000106-HGNC_12307-OMIM_619011-HP_0000007-GENCC_100002"	"HGNC:12307"	"TRIP13"	"MONDO:0033565"	"oocyte maturation defect 9"	"OMIM:619011"	"Oocyte/zygote/embryo maturation arrest 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12307"	"TRIP13"	"OMIM:619011"	"oocyte maturation defect 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-22 21:07:34"	""	""	"32473092"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIP130FemaleInf"	"2023-11-30"
"GENCC_000106-HGNC_12307-OMIM_617598-HP_0000007-GENCC_100002"	"HGNC:12307"	"TRIP13"	"MONDO:0054736"	"mosaic variegated aneuploidy syndrome 3"	"OMIM:617598"	"Mosaic variegated aneuploidy syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12307"	"TRIP13"	"OMIM:617598"	"mosaic variegated aneuploidy syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"28553959"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIP130MVA"	"2023-11-30"
"GENCC_000106-HGNC_12310-OMIM_616866-HP_0000007-GENCC_100002"	"HGNC:12310"	"TRIP4"	"MONDO:0014806"	"spinal muscular atrophy with congenital bone fractures 1"	"OMIM:616866"	"Spinal muscular atrophy with congenital bone fractures 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12310"	"TRIP4"	"OMIM:616866"	"spinal muscular atrophy with congenital bone fractures 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-29 09:36:17"	""	""	"26924529, 27008887"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRIP40SpinalMu"	"2023-11-30"
"GENCC_000106-HGNC_25980-OMIM_618302-HP_0000007-GENCC_100002"	"HGNC:25980"	"TRMT1"	"MONDO:0032665"	"intellectual developmental disorder, autosomal recessive 68"	"OMIM:618302"	"Intellectual developmental disorder, autosomal recessive 68"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25980"	"TRMT1"	"OMIM:618302"	"intellectual developmental disorder, autosomal recessive 68"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-01-14 15:33:27"	""	""	"21937992, 26308914, 26350204, 30289604"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRMT10ID"	"2023-11-30"
"GENCC_000106-HGNC_26022-OMIM_616974-HP_0000005-GENCC_100004"	"HGNC:26022"	"TRMT10C"	"MONDO:0014856"	"combined oxidative phosphorylation defect type 30"	"OMIM:616974"	"Combined oxidative phosphorylation deficiency 30"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26022"	"TRMT10C"	"OMIM:616974"	"combined oxidative phosphorylation defect type 30"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:01"	""	""	"27132592"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRMT10C0TRMT10Crel"	"2023-11-30"
"GENCC_000106-HGNC_23141-OMIM_616539-HP_0000007-GENCC_100002"	"HGNC:23141"	"TRMT5"	"MONDO:0014684"	"combined oxidative phosphorylation defect type 26"	"OMIM:616539"	"Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23141"	"TRMT5"	"OMIM:616539"	"combined oxidative phosphorylation defect type 26"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 14:09:49"	""	""	"26189817, 29021354, 35109800, 35342985"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRMT50OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_25481-OMIM_613070-HP_0000007-GENCC_100002"	"HGNC:25481"	"TRMU"	"MONDO:0013111"	"acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"	"OMIM:613070"	"Liver failure, transient infantile"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25481"	"TRMU"	"OMIM:613070"	"acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-02 08:30:15"	""	""	"19732863, 21153446, 21169334, 21931168, 23625533, 25665837"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRMU0LiverFail"	"2023-11-30"
"GENCC_000106-HGNC_17341-OMIM_616959-HP_0000007-GENCC_100002"	"HGNC:17341"	"TRNT1"	"MONDO:0014850"	"retinitis pigmentosa and erythrocytic microcytosis"	"OMIM:616959"	"Retinitis pigmentosa and erythrocytic microcytosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17341"	"TRNT1"	"OMIM:616959"	"retinitis pigmentosa and erythrocytic microcytosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:01"	""	""	"26494905, 27389523, 29358286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRNT10RP"	"2023-11-30"
"GENCC_000106-HGNC_17341-OMIM_616084-HP_0000007-GENCC_100002"	"HGNC:17341"	"TRNT1"	"MONDO:0014487"	"congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	"OMIM:616084"	"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17341"	"TRNT1"	"OMIM:616084"	"congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-20 21:31:17"	""	""	"25193871, 25652405, 29358286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRNT10TRNT1sideroblas"	"2023-11-30"
"GENCC_000106-HGNC_497-OMIM_615040-HP_0000005-GENCC_100004"	"HGNC:497"	"TRPA1"	"MONDO:0014021"	"familial episodic pain syndrome with predominantly upper body involvement"	"OMIM:615040"	"?Episodic pain syndrome, familial, 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:497"	"TRPA1"	"OMIM:615040"	"?Episodic pain syndrome, familial, 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-02-14 15:39:16"	""	""	"16564016, 20547126, 25724085, 28436534"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPA10Episodic"	"2023-11-30"
"GENCC_000106-HGNC_12335-OMIM_616410-HP_0000006-GENCC_100004"	"HGNC:12335"	"TRPC3"	"MONDO:0014626"	"spinocerebellar ataxia type 41"	"OMIM:616410"	"?Spinocerebellar ataxia 41"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12335"	"TRPC3"	"OMIM:616410"	"?Spinocerebellar ataxia 41"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-01 13:08:28"	""	""	"25477146, 31475037, 34183866"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPC30SCA"	"2023-11-30"
"GENCC_000106-HGNC_7146-OMIM_613216-HP_0000007-GENCC_100002"	"HGNC:7146"	"TRPM1"	"MONDO:0013183"	"congenital stationary night blindness 1C"	"OMIM:613216"	"Night blindness, congenital stationary (complete), 1C, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:7146"	"TRPM1"	"OMIM:613216"	"congenital stationary night blindness 1C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-19 13:06:13"	""	""	"19878917, 19896113, 19966281, 19986113, 20300565"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPM10NightBlind"	"2023-11-30"
"GENCC_000106-HGNC_17992-OMIM_620224-HP_0000006-GENCC_100002"	"HGNC:17992"	"TRPM3"	"MONDO:0859365"	"neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures"	"OMIM:620224"	"Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17992"	"TRPM3"	"OMIM:620224"	"Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-05 18:11:47"	""	""	"29156220, 31278393"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPM30EIEE"	"2023-11-30"
"GENCC_000106-HGNC_17992-OMIM_620253-HP_0000006-GENCC_100002"	"HGNC:17992"	"TRPM3"	"MONDO:0859382"	"cataract 50 with or without glaucoma"	"OMIM:620253"	"?Cataract 50 with or without glaucoma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17992"	"TRPM3"	"OMIM:620253"	"?Cataract 50 with or without glaucoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-12 18:52:30"	""	""	"25090642, 27518543, 29914532"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPM30PedCata"	"2023-11-30"
"GENCC_000106-HGNC_17993-OMIM_604559-HP_0000006-GENCC_100002"	"HGNC:17993"	"TRPM4"	"MONDO:0011474"	"progressive familial heart block type IB"	"OMIM:604559"	"Progressive familial heart block, type IB"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17993"	"TRPM4"	"OMIM:604559"	"progressive familial heart block type IB"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:02:34"	""	""	"19726882, 21887725, 26820365, 29748318"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPM40PFHB"	"2023-11-30"
"GENCC_000106-HGNC_17993-OMIM_618531-HP_0000006-GENCC_100002"	"HGNC:17993"	"TRPM4"	"MONDO:0032801"	"erythrokeratodermia variabilis et progressiva 6"	"OMIM:618531"	"Erythrokeratodermia variabilis et progressiva 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:17993"	"TRPM4"	"OMIM:618531"	"erythrokeratodermia variabilis et progressiva 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-22 14:35:51"	""	""	"30528822"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPM40PSE"	"2023-11-30"
"GENCC_000106-HGNC_17995-OMIM_602014-HP_0000007-GENCC_100002"	"HGNC:17995"	"TRPM6"	"MONDO:0011176"	"intestinal hypomagnesemia 1"	"OMIM:602014"	"Hypomagnesemia 1, intestinal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17995"	"TRPM6"	"OMIM:602014"	"Hypomagnesemia 1, intestinal"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 11:56:31"	""	""	"12032570, 16107578, 251132, 26226117"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPM60Hypomagn"	"2023-11-30"
"GENCC_000106-HGNC_17994-OMIM_105500-HP_0000005-GENCC_100004"	"HGNC:17994"	"TRPM7"	"MONDO:0007104"	"amyotrophic lateral sclerosis-parkinsonism-dementia complex"	"OMIM:105500"	"{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17994"	"TRPM7"	"OMIM:105500"	"{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:22"	""	""	"16051700, 30090657"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPM70ALS"	"2023-11-30"
"GENCC_000106-HGNC_12340-OMIM_190351-HP_0000006-GENCC_100002"	"HGNC:12340"	"TRPS1"	"MONDO:0008597"	"trichorhinophalangeal syndrome, type III"	"OMIM:190351"	"Trichorhinophalangeal syndrome, type III"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12340"	"TRPS1"	"OMIM:190351"	"Trichorhinophalangeal syndrome, type III"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 14:42:33"	""	""	"11112658"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPS10TCPS"	"2023-11-30"
"GENCC_000106-HGNC_18084-OMIM_616400-HP_0000005-GENCC_100004"	"HGNC:18084"	"TRPV3"	"MONDO:0014622"	"isolated focal non-epidermolytic palmoplantar keratoderma"	"OMIM:616400"	"?Palmoplantar keratoderma, nonepidermolytic, focal 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18084"	"TRPV3"	"OMIM:616400"	"?Palmoplantar keratoderma, nonepidermolytic, focal 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-01 13:07:39"	""	""	"25285920, 26902751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPV30?Palmopl"	"2023-11-30"
"GENCC_000106-HGNC_18084-OMIM_614594-HP_0000006-GENCC_100002"	"HGNC:18084"	"TRPV3"	"MONDO:0100296"	"Olmsted syndrome 1"	"OMIM:614594"	"Olmsted syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18084"	"TRPV3"	"OMIM:614594"	"mutilating palmoplantar keratoderma with periorificial keratotic plaques"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-01 08:05:54"	""	""	"16227106, 22405088, 22835024, 24606194, 25285920, 25886873"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPV30OlmstedS"	"2023-11-30"
"GENCC_000106-HGNC_18083-OMIM_606071-HP_0000006-GENCC_100002"	"HGNC:18083"	"TRPV4"	"MONDO:0011633"	"Charcot-Marie-Tooth disease axonal type 2C"	"OMIM:606071"	"Hereditary motor and sensory neuropathy, type IIc"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18083"	"TRPV4"	"OMIM:606071"	"Hereditary motor and sensory neuropathy, type IIc"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-14 07:26:46"	""	""	"12682323, 15668982, 20037586, 20037587, 20037588, 21288981, 21454511, 606071"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPV40HMN"	"2023-11-30"
"GENCC_000106-HGNC_18083-OMIM_113500-HP_0000006-GENCC_100002"	"HGNC:18083"	"TRPV4"	"MONDO:0007232"	"autosomal dominant brachyolmia"	"OMIM:113500"	"Brachyolmia type 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18083"	"TRPV4"	"OMIM:113500"	"autosomal dominant brachyolmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-01 07:55:26"	""	""	"1842522, 18587396, 19232556, 21573172, 24677493, 26170305"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPV40SMD"	"2023-11-30"
"GENCC_000106-HGNC_14006-OMIM_602014-HP_0000007-GENCC_100002"	"HGNC:14006"	"TRPV6"	"MONDO:0011176"	"intestinal hypomagnesemia 1"	"OMIM:602014"	"Hypomagnesemia 1, intestinal"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14006"	"TRPV6"	"OMIM:602014"	"Hypomagnesemia 1, intestinal"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 12:05:19"	""	""	"29861107, 30144375, 32206464, 32646367"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRPV60NSHPT"	"2023-11-30"
"GENCC_000106-HGNC_12347-OMIM_618454-HP_0000006-GENCC_100002"	"HGNC:12347"	"TRRAP"	"MONDO:0032760"	"developmental delay with or without dysmorphic facies and autism"	"OMIM:618454"	"Developmental delay with or without dysmorphic facies and autism"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12347"	"TRRAP"	"OMIM:618454"	"developmental delay with or without dysmorphic facies and autism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-23 15:07:02"	""	""	"30827496"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TRRAP0ID"	"2023-11-30"
"GENCC_000106-HGNC_28422-OMIM_612389-HP_0000007-GENCC_100002"	"HGNC:28422"	"TSEN2"	"MONDO:0012890"	"pontocerebellar hypoplasia type 2B"	"OMIM:612389"	"Pontocerebellar hypoplasia type 2B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28422"	"TSEN2"	"OMIM:612389"	"pontocerebellar hypoplasia type 2B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:00"	""	""	"18711368, 20952379, 23562994, 31980526, 32404165, 35266334"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSEN20PCH"	"2023-11-30"
"GENCC_000106-HGNC_15506-OMIM_612390-HP_0000005-GENCC_100004"	"HGNC:15506"	"TSEN34"	"MONDO:0012891"	"pontocerebellar hypoplasia type 2C"	"OMIM:612390"	"?Pontocerebellar hypoplasia type 2C"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15506"	"TSEN34"	"OMIM:612390"	"pontocerebellar hypoplasia type 2C"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:51"	""	""	"18711368, 20952379, 21882292"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSEN340PCH"	"2023-11-30"
"GENCC_000106-HGNC_27561-OMIM_610204-HP_0000007-GENCC_100002"	"HGNC:27561"	"TSEN54"	"MONDO:0012438"	"pontocerebellar hypoplasia type 5"	"OMIM:610204"	"?Pontocerebellar hypoplasia type 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:27561"	"TSEN54"	"OMIM:610204"	"?Pontocerebellar hypoplasia type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"17641900, 18711368, 20952379, 21273289, 21368912, 23307886"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSEN540PCH"	"2023-11-30"
"GENCC_000106-HGNC_14927-OMIM_617961-HP_0000005-GENCC_100004"	"HGNC:14927"	"TSGA10"	"MONDO:0054730"	"spermatogenic failure 26"	"OMIM:617961"	"?Spermatogenic failure 26"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14927"	"TSGA10"	"OMIM:617961"	"?Spermatogenic failure 26"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-07-12 14:31:00"	""	""	"282592, 28905369, 32285443, 32410354"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSGA100SpermFail"	"2023-11-30"
"GENCC_000106-HGNC_12373-OMIM_609152-HP_0000006-GENCC_100002"	"HGNC:12373"	"TSHR"	"MONDO:0012203"	"familial hyperthyroidism due to mutations in TSH receptor"	"OMIM:609152"	"Thyroid carcinoma with thyrotoxicosis, somatic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12373"	"TSHR"	"OMIM:609152"	"Hyperthyroidism, nonautoimmune"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 14:37:11"	""	""	"11440271, 16079263, 17199441, 20926595, 7920658"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSHR0Hyperthyroid"	"2023-11-30"
"GENCC_000106-HGNC_12373-OMIM_275200-HP_0000007-GENCC_100002"	"HGNC:12373"	"TSHR"	"MONDO:0010142"	"hypothyroidism due to TSH receptor mutations"	"OMIM:275200"	"Hypothyroidism, congenital, nongoitrous, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12373"	"TSHR"	"OMIM:275200"	"hypothyroidism due to TSH receptor mutations"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-28 14:20:12"	""	""	"16060907, 19240155, 8170469, 8954020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSHR0Hypothy"	"2023-11-30"
"GENCC_000106-HGNC_10669-OMIM_607842-HP_0000006-GENCC_100004"	"HGNC:10669"	"TSHZ1"	"MONDO:0011921"	"aural atresia, congenital"	"OMIM:607842"	"Aural atresia, congenital"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:10669"	"TSHZ1"	"OMIM:607842"	"aural atresia, congenital"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-07-07 13:40:53"	""	""	"17586487, 22152683"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSHZ10AuralAtr"	"2023-11-30"
"GENCC_000106-HGNC_11854-OMIM_300210-HP_0001417-GENCC_100002"	"HGNC:11854"	"TSPAN7"	"MONDO:0010266"	"intellectual disability, X-linked 58"	"OMIM:300210"	"Intellectual developmental disorder, X-linked 58"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:11854"	"TSPAN7"	"OMIM:300210"	"intellectual disability, X-linked 58"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"10655063, 12070254, 19765681, 20479760, 22511893, 25081361, 26290131, 26350204"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSPAN70XLID"	"2023-11-30"
"GENCC_000106-HGNC_1268-OMIM_614861-HP_0000007-GENCC_100004"	"HGNC:1268"	"TSPEAR"	"MONDO:0013929"	"autosomal recessive nonsyndromic hearing loss 98"	"OMIM:614861"	"?Deafness, autosomal recessive 98"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1268"	"TSPEAR"	"OMIM:614861"	"autosomal recessive nonsyndromic hearing loss 98"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-28 12:19:03"	""	""	"22678063, 26969326, 27736875, 30046887, 30733538"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSPEAR0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_1268-OMIM_618180-HP_0000007-GENCC_100002"	"HGNC:1268"	"TSPEAR"	"MONDO:0032584"	"ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"	"OMIM:618180"	"Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1268"	"TSPEAR"	"OMIM:618180"	"ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-14 14:27:53"	""	""	"27736875, 30046887, 34042254"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSPEAR0EctodermDys"	"2023-11-30"
"GENCC_000106-HGNC_12382-OMIM_608800-HP_0000007-GENCC_100002"	"HGNC:12382"	"TSPYL1"	"MONDO:0012124"	"sudden infant death-dysgenesis of the testes syndrome"	"OMIM:608800"	"Sudden infant death with dysgenesis of the testes syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12382"	"TSPYL1"	"OMIM:608800"	"sudden infant death-dysgenesis of the testes syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 08:17:25"	""	""	"15273283, 32885560, 33075815, 36082874"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSPYL10SuddenIn"	"2023-11-30"
"GENCC_000106-HGNC_25455-OMIM_300946-HP_0001417-GENCC_100004"	"HGNC:25455"	"TSR2"	"MONDO:0010493"	"Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"	"OMIM:300946"	"?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:25455"	"TSR2"	"OMIM:300946"	"?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:02:08"	""	""	"24942156"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TSR20?Diamond"	"2023-11-30"
"GENCC_000106-HGNC_23700-OMIM_618801-HP_0000007-GENCC_100002"	"HGNC:23700"	"TTC12"	"MONDO:0032924"	"ciliary dyskinesia, primary, 45"	"OMIM:618801"	"Ciliary dyskinesia, primary, 45"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23700"	"TTC12"	"OMIM:618801"	"ciliary dyskinesia, primary, 45"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-27 06:39:33"	""	""	"31978331"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC120PCD"	"2023-11-30"
"GENCC_000106-HGNC_30761-OMIM_618429-HP_0000007-GENCC_100002"	"HGNC:30761"	"TTC21A"	"MONDO:0032744"	"spermatogenic failure 37"	"OMIM:618429"	"Spermatogenic failure 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30761"	"TTC21A"	"OMIM:618429"	"Spermatogenic failure 37"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-08-04 09:36:52"	""	""	"30929735"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC21A0Asthenospermia"	"2023-11-30"
"GENCC_000106-HGNC_25660-OMIM_613819-HP_0000007-GENCC_100002"	"HGNC:25660"	"TTC21B"	"MONDO:0013441"	"asphyxiating thoracic dystrophy 4"	"OMIM:613819"	"Short-rib thoracic dysplasia 4 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25660"	"TTC21B"	"OMIM:613819"	"asphyxiating thoracic dystrophy 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-03 14:05:47"	""	""	"18327258, 21258341, 25492405, 28556411, 29068549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC21B0AsphyxThoracDys"	"2023-11-30"
"GENCC_000106-HGNC_25660-OMIM_613820-HP_0000007-GENCC_100002"	"HGNC:25660"	"TTC21B"	"MONDO:0013442"	"nephronophthisis 12"	"OMIM:613820"	"Nephronophthisis 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25660"	"TTC21B"	"OMIM:613820"	"Nephronophthisis 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-27 06:42:34"	""	""	"21068128, 21258341, 23559409, 24876116, 26489029, 26673778, 26940125, 27491411, 28124483"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC21B0Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_25280-OMIM_617092-HP_0000007-GENCC_100002"	"HGNC:25280"	"ODAD4"	"MONDO:0014910"	"primary ciliary dyskinesia 35"	"OMIM:617092"	"Ciliary dyskinesia, primary, 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25280"	"ODAD4"	"OMIM:617092"	"Ciliary dyskinesia, primary, 35"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 13:33:38"	""	""	"27486780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC250TTC25rel"	"2023-11-30"
"GENCC_000106-HGNC_21882-OMIM_619534-HP_0000007-GENCC_100002"	"HGNC:21882"	"IFT56"	"MONDO:0859191"	"biliary, renal, neurologic, and skeletal syndrome"	"OMIM:619534"	"Biliary, renal, neurologic, and skeletal syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21882"	"IFT56"	"OMIM:619534"	"Biliary, renal, neurologic, and skeletal syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 07:41:08"	""	""	"22718903, 31595528"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC260Ciliopathy"	"2023-11-30"
"GENCC_000106-HGNC_29936-OMIM_618745-HP_0000007-GENCC_100002"	"HGNC:29936"	"TTC29"	"MONDO:0032896"	"spermatogenic failure 42"	"OMIM:618745"	"Spermatogenic failure 42"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29936"	"TTC29"	"OMIM:618745"	"Spermatogenic failure 42"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-09 13:53:57"	""	""	"31735292, 31735294"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC290MaleInfertility"	"2023-11-30"
"GENCC_000106-HGNC_23639-OMIM_222470-HP_0000007-GENCC_100002"	"HGNC:23639"	"SKIC3"	"MONDO:0024541"	"trichohepatoenteric syndrome 1"	"OMIM:222470"	"Trichohepatoenteric syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23639"	"SKIC3"	"OMIM:222470"	"trichohepatoenteric syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-17 10:46:53"	""	""	"20176027, 21120949, 23302111"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC370THE"	"2023-11-30"
"GENCC_000106-HGNC_19274-OMIM_619244-HP_0000007-GENCC_100002"	"HGNC:19274"	"TTC5"	"MONDO:0030999"	"neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism"	"OMIM:619244"	"Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19274"	"TTC5"	"OMIM:619244"	"neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-28 11:32:34"	""	""	"29302074, 32439809"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC50TTC5rel"	"2023-11-30"
"GENCC_000106-HGNC_20087-OMIM_615985-HP_0000007-GENCC_100002"	"HGNC:20087"	"TTC8"	"MONDO:0014436"	"Bardet-Biedl syndrome 8"	"OMIM:615985"	"Bardet-Biedl syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20087"	"TTC8"	"OMIM:615985"	"Bardet-Biedl syndrome 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:55"	""	""	"16308660, 16877420, 19797195, 21052717, 29126234, 30886724"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC80BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_20087-OMIM_613464-HP_0000007-GENCC_100002"	"HGNC:20087"	"TTC8"	"MONDO:0013274"	"retinitis pigmentosa 51"	"OMIM:613464"	"?Retinitis pigmentosa 51"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20087"	"TTC8"	"OMIM:613464"	"retinitis pigmentosa 51"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-23 20:23:07"	""	""	"20451172, 25097241, 25999674, 26195043, 29126234, 30718709"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTC80RP"	"2023-11-30"
"GENCC_000106-HGNC_12403-OMIM_611705-HP_0000007-GENCC_100002"	"HGNC:12403"	"TTN"	"MONDO:0012714"	"early-onset myopathy with fatal cardiomyopathy"	"OMIM:611705"	"Congenital myopathy 5 with cardiomyopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12403"	"TTN"	"OMIM:611705"	"early-onset myopathy with fatal cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-23 09:02:06"	""	""	"17444505, 23975875"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTN0CNM"	"2023-11-30"
"GENCC_000106-HGNC_12403-OMIM_604145-HP_0000006-GENCC_100002"	"HGNC:12403"	"TTN"	"MONDO:0011400"	"dilated cardiomyopathy 1G"	"OMIM:604145"	"Cardiomyopathy, dilated, 1G"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12403"	"TTN"	"OMIM:604145"	"dilated cardiomyopathy 1G"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-23 15:49:01"	""	""	"10462489, 16733766, 19608031, 22335739, 24503780"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTN0DCM"	"2023-11-30"
"GENCC_000106-HGNC_12403-OMIM_613765-HP_0000006-GENCC_100004"	"HGNC:12403"	"TTN"	"MONDO:0013412"	"hypertrophic cardiomyopathy 9"	"OMIM:613765"	"Cardiomyopathy, familial hypertrophic, 9"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12403"	"TTN"	"OMIM:613765"	"hypertrophic cardiomyopathy 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-10-06 11:52:58"	""	""	"10462489, 19608031, 1.9608E+15, 22335739"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTN0HCM"	"2023-11-30"
"GENCC_000106-HGNC_12403-OMIM_603689-HP_0000006-GENCC_100002"	"HGNC:12403"	"TTN"	"MONDO:0011362"	"myopathy, myofibrillar, 9, with early respiratory failure"	"OMIM:603689"	"Myopathy, myofibrillar, 9, with early respiratory failure"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12403"	"TTN"	"OMIM:603689"	"Myopathy, myofibrillar, 9, with early respiratory failure"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:31"	""	""	"22577215, 23486992, 23606733"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTN0HMERF"	"2023-11-30"
"GENCC_000106-HGNC_12403-OMIM_608807-HP_0000007-GENCC_100002"	"HGNC:12403"	"TTN"	"MONDO:0012127"	"autosomal recessive limb-girdle muscular dystrophy type 2J"	"OMIM:608807"	"Muscular dystrophy, limb-girdle, autosomal recessive 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12403"	"TTN"	"OMIM:608807"	"autosomal recessive limb-girdle muscular dystrophy type 2J"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-21 21:15:44"	""	""	"1619633, 24395473"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTN0LGMD"	"2023-11-30"
"GENCC_000106-HGNC_12403-OMIM_600334-HP_0000006-GENCC_100002"	"HGNC:12403"	"TTN"	"MONDO:0010870"	"tibial muscular dystrophy"	"OMIM:600334"	"Tibial muscular dystrophy, tardive"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12403"	"TTN"	"OMIM:600334"	"tibial muscular dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-29 07:07:53"	""	""	"18948003, 24395473"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TTN0TMD"	"2023-11-30"
"GENCC_000106-HGNC_12406-OMIM_616188-HP_0000007-GENCC_100002"	"HGNC:12406"	"TUB"	"MONDO:0014522"	"retinal dystrophy and obesity"	"OMIM:616188"	"?Retinal dystrophy and obesity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12406"	"TUB"	"OMIM:616188"	"retinal dystrophy and obesity"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-23 20:29:39"	""	""	"10629044, 2250094, 24375934, 32037395, 8612280"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUB0RetinalDys"	"2023-11-30"
"GENCC_000106-HGNC_20766-OMIM_611603-HP_0000006-GENCC_100002"	"HGNC:20766"	"TUBA1A"	"MONDO:0012703"	"lissencephaly due to TUBA1A mutation"	"OMIM:611603"	"Lissencephaly 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20766"	"TUBA1A"	"OMIM:611603"	"lissencephaly due to TUBA1A mutation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 13:10:59"	""	""	"17218254, 18728072, 20466733, 20603323, 26130693, 30744660"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBA1A0Lissencephaly"	"2023-11-30"
"GENCC_000106-HGNC_24071-OMIM_617928-HP_0000005-GENCC_100004"	"HGNC:24071"	"TUBA3D"	"MONDO:0054771"	"keratoconus 9"	"OMIM:617928"	"Keratoconus 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:24071"	"TUBA3D"	"OMIM:617928"	"Keratoconus 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-04-27 14:36:18"	""	""	"29051577, 29619247"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBA3D0TUBA3Drel"	"2023-11-30"
"GENCC_000106-HGNC_12407-OMIM_616208-HP_0000005-GENCC_100004"	"HGNC:12407"	"TUBA4A"	"MONDO:0014531"	"amyotrophic lateral sclerosis type 22"	"OMIM:616208"	"Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12407"	"TUBA4A"	"OMIM:616208"	"amyotrophic lateral sclerosis type 22"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-09-14 12:41:31"	""	""	"25374358, 25893256, 28069311, 29540513, 35327632"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBA4A0ALS"	"2023-11-30"
"GENCC_000106-HGNC_12410-OMIM_613180-HP_0000005-GENCC_100004"	"HGNC:12410"	"TUBA8"	"MONDO:0013172"	"polymicrogyria with optic nerve hypoplasia"	"OMIM:613180"	"OMIM:613180"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12410"	"TUBA8"	"OMIM:613180"	"polymicrogyria with optic nerve hypoplasia"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-14 12:25:47"	""	""	"19896110, 28388629, 29265763, 29348930, 31481326, 609528"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBA80Polymicr02"	"2023-11-30"
"GENCC_000106-HGNC_20778-OMIM_615771-HP_0000006-GENCC_100002"	"HGNC:20778"	"TUBB"	"MONDO:0014341"	"complex cortical dysplasia with other brain malformations 6"	"OMIM:615771"	"Cortical dysplasia, complex, with other brain malformations 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20778"	"TUBB"	"OMIM:615771"	"complex cortical dysplasia with other brain malformations 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-16 18:36:23"	""	""	"23246003, 26637975, 29427453, 30738969"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB0TUBBrel"	"2023-11-30"
"GENCC_000106-HGNC_16257-OMIM_613112-HP_0000006-GENCC_100002"	"HGNC:16257"	"TUBB1"	"MONDO:0800047"	"macrothrombocytopenia, isolated, 1, autosomal dominant"	"OMIM:613112"	"Macrothrombocytopenia, isolated, 1, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16257"	"TUBB1"	"OMIM:613112"	"macrothrombocytopenia, isolated, 1, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:18"	""	""	"11369202, 18849486, 24344610, 27479822, 28983057, 30446499"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB10Macrothr"	"2023-11-30"
"GENCC_000106-HGNC_12412-OMIM_615763-HP_0000006-GENCC_100002"	"HGNC:12412"	"TUBB2A"	"MONDO:0014337"	"complex cortical dysplasia with other brain malformations 5"	"OMIM:615763"	"Cortical dysplasia, complex, with other brain malformations 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12412"	"TUBB2A"	"OMIM:615763"	"complex cortical dysplasia with other brain malformations 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-25 11:33:10"	""	""	"24702957, 26325558, 27770045, 28840640, 29547997, 30174244"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB2A0Cortical"	"2023-11-30"
"GENCC_000106-HGNC_30829-OMIM_610031-HP_0000006-GENCC_100002"	"HGNC:30829"	"TUBB2B"	"MONDO:0012399"	"complex cortical dysplasia with other brain malformations 7"	"OMIM:610031"	"Cortical dysplasia, complex, with other brain malformations 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30829"	"TUBB2B"	"OMIM:610031"	"complex cortical dysplasia with other brain malformations 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-20 08:58:45"	""	""	"19465910, 22333901, 24860126, 28677066"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB2B0Tubulinopathy"	"2023-11-30"
"GENCC_000106-HGNC_20772-OMIM_614039-HP_0000006-GENCC_100002"	"HGNC:20772"	"TUBB3"	"MONDO:0013541"	"complex cortical dysplasia with other brain malformations 1"	"OMIM:614039"	"Cortical dysplasia, complex, with other brain malformations 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20772"	"TUBB3"	"OMIM:614039"	"complex cortical dysplasia with other brain malformations 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 11:03:38"	""	""	"20829227"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB30Cortical03"	"2023-11-30"
"GENCC_000106-HGNC_20772-OMIM_600638-HP_0000006-GENCC_100002"	"HGNC:20772"	"TUBB3"	"MONDO:0010912"	"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"	"OMIM:600638"	"Fibrosis of extraocular muscles, congenital, 3A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20772"	"TUBB3"	"OMIM:600638"	"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-03 09:45:12"	""	""	"20074521"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB30Fibrosis05"	"2023-11-30"
"GENCC_000106-HGNC_20774-OMIM_128101-HP_0000006-GENCC_100002"	"HGNC:20774"	"TUBB4A"	"MONDO:0007493"	"torsion dystonia 4"	"OMIM:128101"	"Dystonia 4, torsion, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20774"	"TUBB4A"	"OMIM:128101"	"torsion dystonia 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-03-31 09:50:06"	""	""	"23424103, 23595291, 28655586, 32943487, 33084096, 35844288"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB4A0Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_20774-OMIM_612438-HP_0000006-GENCC_100002"	"HGNC:20774"	"TUBB4A"	"MONDO:0012905"	"hypomyelinating leukodystrophy 6"	"OMIM:612438"	"Leukodystrophy, hypomyelinating, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20774"	"TUBB4A"	"OMIM:612438"	"hypomyelinating leukodystrophy 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-10-10 22:16:53"	""	""	"23582646, 24526230, 24785942, 24850488, 25085639, 25772097, 28973395, 30079973"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB4A0HLD"	"2023-11-30"
"GENCC_000106-HGNC_20771-OMIM_617879-HP_0000006-GENCC_100002"	"HGNC:20771"	"TUBB4B"	"MONDO:0060650"	"Leber congenital amaurosis with early-onset deafness"	"OMIM:617879"	"Leber congenital amaurosis with early-onset deafness"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20771"	"TUBB4B"	"OMIM:617879"	"Leber congenital amaurosis with early-onset deafness"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:42"	""	""	"29198720, 34021019, 35240325"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB4B0LCA0hearingloss"	"2023-11-30"
"GENCC_000106-HGNC_20776-OMIM_617732-HP_0000005-GENCC_100004"	"HGNC:20776"	"TUBB6"	"MONDO:0060589"	"facial palsy, congenital, with ptosis and velopharyngeal dysfunction"	"OMIM:617732"	"?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20776"	"TUBB6"	"OMIM:617732"	"?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-11-07 09:04:29"	""	""	"29016863"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB60TUBB6rel"	"2023-11-30"
"GENCC_000106-HGNC_20773-OMIM_616780-HP_0000006-GENCC_100002"	"HGNC:20773"	"TUBB8"	"MONDO:0021573"	"oocyte maturation defect 2"	"OMIM:616780"	"Oocyte/zygote/embryo maturation arrest 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20773"	"TUBB8"	"OMIM:616780"	"oocyte maturation defect 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-11-01 02:14:48"	""	""	"26789871, 27273344, 27989988"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBB80OocyteMa"	"2023-11-30"
"GENCC_000106-HGNC_18599-OMIM_618737-HP_0000007-GENCC_100002"	"HGNC:18599"	"TUBGCP2"	"MONDO:0032893"	"pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures"	"OMIM:618737"	"Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18599"	"TUBGCP2"	"OMIM:618737"	"pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:56"	""	""	"30315573, 31630790, 33458610"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBGCP20TUBGCP2rel"	"2023-11-30"
"GENCC_000106-HGNC_18127-OMIM_251270-HP_0000007-GENCC_100002"	"HGNC:18127"	"TUBGCP6"	"MONDO:0009624"	"microcephaly and chorioretinopathy 1"	"OMIM:251270"	"Microcephaly and chorioretinopathy, autosomal recessive, 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18127"	"TUBGCP6"	"OMIM:251270"	"microcephaly and chorioretinopathy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-11 15:57:23"	""	""	"22279524, 25344692, 31077665"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUBGCP60Microcep02"	"2023-11-30"
"GENCC_000106-HGNC_12422-OMIM_620415-HP_0000007-GENCC_100002"	"HGNC:12422"	"TUFT1"	"MONDO:0957307"	"woolly hair-skin fragility syndrome"	"OMIM:620415"	"Woolly hair-skin fragility syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12422"	"TUFT1"	"OMIM:620415"	"Woolly hair-skin fragility syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 20:12:33"	""	""	"19530186, 25531160, 28410428, 29068589, 31533690, 36689522"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TUFT10TUFT1rel"	"2023-11-30"
"GENCC_000106-HGNC_12423-OMIM_613843-HP_0000007-GENCC_100002"	"HGNC:12423"	"TULP1"	"MONDO:0013457"	"Leber congenital amaurosis 15"	"OMIM:613843"	"Leber congenital amaurosis 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12423"	"TULP1"	"OMIM:613843"	"Leber congenital amaurosis 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-13 20:30:54"	""	""	"10549638, 15024725, 17620573, 18055821, 18936139, 24474277, 25342276, 26047050"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TULP10Leber"	"2023-11-30"
"GENCC_000106-HGNC_12423-OMIM_600132-HP_0000007-GENCC_100002"	"HGNC:12423"	"TULP1"	"MONDO:0010827"	"retinitis pigmentosa 14"	"OMIM:600132"	"Retinitis pigmentosa 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12423"	"TULP1"	"OMIM:600132"	"retinitis pigmentosa 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-16 18:32:07"	""	""	"10549638, 10711677, 15024725, 17620573, 18055821, 18936139, 23591405, 24154662, 25342276, 26047050, 27440997, 28981474, 29641573, 8606774, 9462751"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TULP10RP"	"2023-11-30"
"GENCC_000106-HGNC_823-OMIM_620358-HP_0000006-GENCC_100002"	"HGNC:823"	"ATP5F1A"	"MONDO:0957254"	"mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A"	"OMIM:620358"	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:823"	"ATP5F1A"	"OMIM:620358"	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-17 15:47:50"	""	""	"34483339, 34954817"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP5A10MC5def"	"2023-11-30"
"GENCC_000106-HGNC_12428-OMIM_123100-HP_0000006-GENCC_100002"	"HGNC:12428"	"TWIST1"	"MONDO:0007399"	"TWIST1-related craniosynostosis"	"OMIM:123100"	"Craniosynostosis 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12428"	"TWIST1"	"OMIM:123100"	"TWIST1-related craniosynostosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-21 12:54:37"	""	""	"11748846, 17343269, 17621648, 26910679, 28808027"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TWIST10Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_12428-OMIM_101400-HP_0000006-GENCC_100002"	"HGNC:12428"	"TWIST1"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"OMIM:101400"	"Saethre-Chotzen syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12428"	"TWIST1"	"OMIM:101400"	"Saethre-Chotzen syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 12:27:02"	""	""	"10749989, 11977182, 14513358, 15923834, 16251895, 17868088"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TWIST10SaethreChotzen"	"2023-11-30"
"GENCC_000106-HGNC_20670-OMIM_209885-HP_0000006-GENCC_100002"	"HGNC:20670"	"TWIST2"	"MONDO:0008853"	"Barber-Say syndrome"	"OMIM:209885"	"Barber-Say syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20670"	"TWIST2"	"OMIM:209885"	"Barber-Say syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:42"	""	""	"26119818"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TWIST20Barber-S"	"2023-11-30"
"GENCC_000106-HGNC_20670-OMIM_227260-HP_0000007-GENCC_100002"	"HGNC:20670"	"TWIST2"	"MONDO:0009203"	"focal facial dermal dysplasia type III"	"OMIM:227260"	"Focal facial dermal dysplasia 3, Setleis type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20670"	"TWIST2"	"OMIM:227260"	"focal facial dermal dysplasia type III"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:51"	""	""	"12553906, 20691403"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TWIST20FocalFac"	"2023-11-30"
"GENCC_000106-HGNC_1160-OMIM_271245-HP_0000007-GENCC_100002"	"HGNC:1160"	"TWNK"	"MONDO:0010060"	"mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"	"OMIM:271245"	"Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1160"	"TWNK"	"OMIM:271245"	"Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"16135556, 17722119, 18775955, 21681116, 25355836, 26970254, 27551684, 27650058, 31455392, 32234020"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TWNK0MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_1160-OMIM_609286-HP_0000006-GENCC_100002"	"HGNC:1160"	"TWNK"	"MONDO:0012241"	"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3"	"OMIM:609286"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:1160"	"TWNK"	"OMIM:609286"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-27 10:37:58"	""	""	"11431692, 15258213, 16301523, 16639411, 16804265, 17272269, 17620490, 18971204, 20880070, 22952820, 24076137, 24091712, 9153451"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TWNK0PEO"	"2023-11-30"
"GENCC_000106-HGNC_17772-OMIM_616811-HP_0000005-GENCC_100004"	"HGNC:17772"	"TXN2"	"MONDO:0014781"	"combined oxidative phosphorylation deficiency 29"	"OMIM:616811"	"?Combined oxidative phosphorylation deficiency 29"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:17772"	"TXN2"	"OMIM:616811"	"?Combined oxidative phosphorylation deficiency 29"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"12529397, 18164269, 26626369"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TXN20TXN2rel"	"2023-11-30"
"GENCC_000106-HGNC_20652-OMIM_619879-HP_0000007-GENCC_100002"	"HGNC:20652"	"TXNDC15"	"MONDO:0030819"	"meckel syndrome 14"	"OMIM:619879"	"Meckel syndrome 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20652"	"TXNDC15"	"OMIM:619879"	"Meckel syndrome 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 14:06:25"	""	""	"251488, 27346357, 27894351, 282790, 30851085"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TXNDC150Joubert"	"2023-11-30"
"GENCC_000106-HGNC_30551-OMIM_608572-HP_0000005-GENCC_100004"	"HGNC:30551"	"TXNL4A"	"MONDO:0012064"	"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	"OMIM:608572"	"Burn-McKeown syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30551"	"TXNL4A"	"OMIM:608572"	"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-13 10:40:56"	""	""	"25434003, 28905882"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TXNL4A0Burn-Mck"	"2023-11-30"
"GENCC_000106-HGNC_18155-OMIM_617825-HP_0000005-GENCC_100004"	"HGNC:18155"	"TXNRD2"	"MONDO:0040502"	"glucocorticoid deficiency 5"	"OMIM:617825"	"?Glucocorticoid deficiency 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:18155"	"TXNRD2"	"OMIM:617825"	"?Glucocorticoid deficiency 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-15 08:30:04"	""	""	"30237576, 32476818"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TXNRD20TXNRD2rel"	"2023-11-30"
"GENCC_000106-HGNC_3148-OMIM_603041-HP_0000007-GENCC_100002"	"HGNC:3148"	"TYMP"	"MONDO:0011283"	"mitochondrial DNA depletion syndrome 1"	"OMIM:603041"	"Mitochondrial DNA depletion syndrome 1 (MNGIE type)"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:3148"	"TYMP"	"OMIM:603041"	"Mitochondrial DNA depletion syndrome 1 (MNGIE type)"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-15 13:56:21"	""	""	"15781193, 16178026, 19028666, 19853446, 20301358, 21933806, 9924029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TYMP0MitoDNA"	"2023-11-30"
"GENCC_000106-HGNC_12442-OMIM_203100-HP_0000007-GENCC_100002"	"HGNC:12442"	"TYR"	"MONDO:0008745"	"oculocutaneous albinism type 1A"	"OMIM:203100"	"Albinism, oculocutaneous, type IA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12442"	"TYR"	"OMIM:203100"	"oculocutaneous albinism type 1A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 08:42:33"	""	""	"10094567, 13680365, 2119500, 22140253, 23504663, 26165494, 9259202"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TYR0Albinism"	"2023-11-30"
"GENCC_000106-HGNC_12449-OMIM_221770-HP_0000007-GENCC_100002"	"HGNC:12449"	"TYROBP"	"MONDO:0020749"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"OMIM:221770"	"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12449"	"TYROBP"	"OMIM:221770"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-10 07:12:44"	""	""	"10888890, 120196, 12370476, 15883308, 17125796, 20500450, 24612676"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TYROBP0NasiHakola"	"2023-11-30"
"GENCC_000106-HGNC_12450-OMIM_203290-HP_0000007-GENCC_100002"	"HGNC:12450"	"TYRP1"	"MONDO:0008747"	"oculocutaneous albinism type 3"	"OMIM:203290"	"Albinism, oculocutaneous, type III"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12450"	"TYRP1"	"OMIM:203290"	"oculocutaneous albinism type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"25093188, 8651291, 9345097"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"TYRP10Albinism"	"2023-11-30"
"GENCC_000106-HGNC_30661-OMIM_619959-HP_0000006-GENCC_100002"	"HGNC:30661"	"UBA2"	"MONDO:0859262"	"ACCES syndrome"	"OMIM:619959"	"ACCES syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:30661"	"UBA2"	"OMIM:619959"	"ACCES syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 21:13:40"	""	""	"25883683, 28110515, 31332306, 31587267, 32758660"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBA20UBA2rel"	"2023-11-30"
"GENCC_000106-HGNC_23230-OMIM_617132-HP_0000007-GENCC_100002"	"HGNC:23230"	"UBA5"	"MONDO:0014933"	"developmental and epileptic encephalopathy, 44"	"OMIM:617132"	"Developmental and epileptic encephalopathy 44"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23230"	"UBA5"	"OMIM:617132"	"Developmental and epileptic encephalopathy 44"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 09:02:16"	""	""	"27545674, 27545681, 28965491, 29663568, 29902590, 30078785, 71540702, 771982"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBA50EIEE"	"2023-11-30"
"GENCC_000106-HGNC_23230-OMIM_617133-HP_0000007-GENCC_100004"	"HGNC:23230"	"UBA5"	"MONDO:0014934"	"spinocerebellar ataxia, autosomal recessive 24"	"OMIM:617133"	"?Spinocerebellar ataxia, autosomal recessive 24"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23230"	"UBA5"	"OMIM:617133"	"?Spinocerebellar ataxia, autosomal recessive 24"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:01"	""	""	"26872069, 32179706, 610553"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBA50SCAR"	"2023-11-30"
"GENCC_000106-HGNC_12461-OMIM_618418-HP_0000006-GENCC_100002"	"HGNC:12461"	"UBAP1"	"MONDO:0032737"	"spastic paraplegia 80, autosomal dominant"	"OMIM:618418"	"Spastic paraplegia 80, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12461"	"UBAP1"	"OMIM:618418"	"spastic paraplegia 80, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:32"	""	""	"30929741, 31203368"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBAP10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_9948-OMIM_620370-HP_0000007-GENCC_100004"	"HGNC:9948"	"RECQL"	"MONDO:0957266"	"RECON progeroid syndrome"	"OMIM:620370"	"RECON progeroid syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:9948"	"RECQL"	"OMIM:620370"	"RECON progeroid syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-13 15:25:20"	""	""	"35025765"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"RECQL0RECON"	"2023-11-30"
"GENCC_000106-HGNC_12499-OMIM_619639-HP_0000007-GENCC_100002"	"HGNC:12499"	"UBE4A"	"MONDO:0859207"	"neurodevelopmental disorder with hypotonia and gross motor and speech delay"	"OMIM:619639"	"Neurodevelopmental disorder with hypotonia and gross motor and speech delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12499"	"UBE4A"	"OMIM:619639"	"Neurodevelopmental disorder with hypotonia and gross motor and speech delay"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-02-11 12:24:18"	""	""	"27431290, 33420346"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBE4A0ID"	"2023-11-30"
"GENCC_000106-HGNC_20344-OMIM_619189-HP_0000007-GENCC_100002"	"HGNC:20344"	"UBR7"	"MONDO:0030963"	"Li-Campeau syndrome"	"OMIM:619189"	"Li-Campeau syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20344"	"UBR7"	"OMIM:619189"	"Li-Campeau syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-13 20:03:32"	""	""	"33340455, 36757286"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UBR70LICAS"	"2023-11-30"
"GENCC_000106-HGNC_12513-OMIM_613643-HP_0000006-GENCC_100004"	"HGNC:12513"	"UCHL1"	"MONDO:0013340"	"Parkinson disease 5, autosomal dominant, susceptibility to"	"OMIM:613643"	"{?Parkinson disease 5, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12513"	"UCHL1"	"OMIM:613643"	"{?Parkinson disease 5, susceptibility to}"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 12:43:29"	""	""	"16965839, 18250096, 21693148, 31618739, 9774100"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UCHL10Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_12513-OMIM_615491-HP_0000007-GENCC_100002"	"HGNC:12513"	"UCHL1"	"MONDO:0014209"	"early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"	"OMIM:615491"	"Spastic paraplegia 79B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12513"	"UCHL1"	"OMIM:615491"	"early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-07-15 17:37:10"	""	""	"23359680, 28007905, 29735986"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UCHL10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_17474-OMIM_620371-HP_0000007-GENCC_100002"	"HGNC:17474"	"ESAM"	"MONDO:0957267"	"neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity"	"OMIM:620371"	"Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:17474"	"ESAM"	"OMIM:620371"	"Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:43:22"	""	""	"36996813"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ESAM0ERND"	"2023-11-30"
"GENCC_000106-HGNC_20597-OMIM_617899-HP_0000007-GENCC_100002"	"HGNC:20597"	"UFM1"	"MONDO:0033486"	"leukodystrophy, hypomyelinating, 14"	"OMIM:617899"	"Leukodystrophy, hypomyelinating, 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20597"	"UFM1"	"OMIM:617899"	"Leukodystrophy, hypomyelinating, 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-13 16:02:04"	""	""	"1.5845E+15, 28931644, 29868776"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UFM10HLD"	"2023-11-30"
"GENCC_000106-HGNC_25640-OMIM_620028-HP_0000005-GENCC_100004"	"HGNC:25640"	"UFSP2"	"MONDO:0031052"	"developmental and epileptic encephalopathy 106"	"OMIM:620028"	"Developmental and epileptic encephalopathy 106"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25640"	"UFSP2"	"OMIM:620028"	"Developmental and epileptic encephalopathy 106"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-10-03 11:45:02"	""	""	"26350515, 33473208"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UFSP20UFSP2rel"	"2023-11-30"
"GENCC_000106-HGNC_12525-OMIM_618792-HP_0000007-GENCC_100002"	"HGNC:12525"	"UGDH"	"MONDO:0032918"	"developmental and epileptic encephalopathy, 84"	"OMIM:618792"	"Developmental and epileptic encephalopathy 84"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12525"	"UGDH"	"OMIM:618792"	"developmental and epileptic encephalopathy, 84"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-06 15:31:08"	""	""	"32001716"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UGDH0UGDHrel"	"2023-11-30"
"GENCC_000106-HGNC_12527-OMIM_618744-HP_0000007-GENCC_100002"	"HGNC:12527"	"UGP2"	"MONDO:0032895"	"developmental and epileptic encephalopathy, 83"	"OMIM:618744"	"Developmental and epileptic encephalopathy 83"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12527"	"UGP2"	"OMIM:618744"	"developmental and epileptic encephalopathy, 83"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-07 11:51:07"	""	""	"30552426, 31820119"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UGP20EIEE"	"2023-11-30"
"GENCC_000106-HGNC_12530-OMIM_143500-HP_0000007-GENCC_100002"	"HGNC:12530"	"UGT1A1"	"MONDO:0007745"	"Gilbert syndrome"	"OMIM:143500"	"[Gilbert syndrome]"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12530"	"UGT1A1"	"OMIM:143500"	"[Gilbert syndrome]"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-02-09 01:12:18"	""	""	"23290513, 28472652"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UGT1A10UGT1A1rel"	"2023-11-30"
"GENCC_000106-HGNC_12559-OMIM_609886-HP_0000005-GENCC_100004"	"HGNC:12559"	"UMOD"	"MONDO:0008073"	"familial juvenile hyperuricemic nephropathy type 1"	"OMIM:609886"	"OMIM:609886"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12559"	"UMOD"	"OMIM:609886"	"glomerulocystic kidney disease with hyperuricemia and isosthenuria"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-25 08:52:39"	""	""	"14570709, 17010121"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UMOD0Glomerulocystic"	"2023-11-30"
"GENCC_000106-HGNC_12565-OMIM_620342-HP_0000005-GENCC_100004"	"HGNC:12565"	"UNC119"	"MONDO:0957240"	"cone-rod dystrophy 24"	"OMIM:620342"	"Cone-rod dystrophy 24"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12565"	"UNC119"	"OMIM:620342"	"Cone-rod dystrophy 24"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-12 18:39:36"	""	""	"11006213, 23563732, 28005958, 31106028, 33090715, 35947183"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UNC1190ConeRodDys"	"2023-11-30"
"GENCC_000106-HGNC_30594-OMIM_619377-HP_0000007-GENCC_100002"	"HGNC:30594"	"UNC45A"	"MONDO:0859164"	"osteootohepatoenteric syndrome"	"OMIM:619377"	"Osteootohepatoenteric syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30594"	"UNC45A"	"OMIM:619377"	"Osteootohepatoenteric syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-11 22:08:00"	""	""	"29429573, 35575086"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UNC45A0OOHEsyn"	"2023-11-30"
"GENCC_000106-HGNC_14304-OMIM_616279-HP_0000005-GENCC_100004"	"HGNC:14304"	"UNC45B"	"MONDO:0014565"	"cataract 43"	"OMIM:616279"	"?Cataract 43"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14304"	"UNC45B"	"OMIM:616279"	"cataract 43"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2017-08-01 09:56:28"	""	""	"17586488, 24549050"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UNC45B0Cataract"	"2023-11-30"
"GENCC_000106-HGNC_14304-OMIM_619178-HP_0000007-GENCC_100002"	"HGNC:14304"	"UNC45B"	"MONDO:0030927"	"myofibrillar myopathy 11"	"OMIM:619178"	"Myofibrillar myopathy 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14304"	"UNC45B"	"OMIM:619178"	"myofibrillar myopathy 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:51"	""	""	"33217308"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UNC45B0MFM"	"2023-11-30"
"GENCC_000106-HGNC_26582-OMIM_616801-HP_0000007-GENCC_100002"	"HGNC:26582"	"UNC80"	"MONDO:0014777"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	"OMIM:616801"	"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26582"	"UNC80"	"OMIM:616801"	"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-17 21:44:20"	""	""	"26545877, 26708751, 26708753, 30167850"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UNC800IHPRF"	"2023-11-30"
"GENCC_000106-HGNC_13481-OMIM_610551-HP_0000007-GENCC_100002"	"HGNC:13481"	"UNC93B1"	"MONDO:0024563"	"herpes simplex encephalitis, susceptibility to, 1"	"OMIM:610551"	"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:13481"	"UNC93B1"	"OMIM:610551"	"{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-01 18:12:28"	""	""	"16973841, 20553844"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UNC93B10Herpes"	"2023-11-30"
"GENCC_000106-HGNC_12572-OMIM_608106-HP_0000007-GENCC_100002"	"HGNC:12572"	"UNG"	"MONDO:0011971"	"hyper-IgM syndrome type 5"	"OMIM:608106"	"Immunodeficiency with hyper IgM, type 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12572"	"UNG"	"OMIM:608106"	"Immunodeficiency with hyper IgM, type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"12958596, 15494304, 19302039"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UNG0HyperIgM"	"2023-11-30"
"GENCC_000106-HGNC_16297-OMIM_613161-HP_0000007-GENCC_100002"	"HGNC:16297"	"UPB1"	"MONDO:0013164"	"beta-ureidopropionase deficiency"	"OMIM:613161"	"Beta-ureidopropionase deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16297"	"UPB1"	"OMIM:613161"	"beta-ureidopropionase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-14 10:18:20"	""	""	"15385443, 22525402, 24526388, 25236466, 25445412, 275553092"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UPB10Beta-Ure"	"2023-11-30"
"GENCC_000106-HGNC_20439-OMIM_300676-HP_0001417-GENCC_100002"	"HGNC:20439"	"UPF3B"	"MONDO:0010398"	"syndromic X-linked intellectual disability 14"	"OMIM:300676"	"Intellectual developmental disorder, X-linked syndromic 14"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:20439"	"UPF3B"	"OMIM:300676"	"syndromic X-linked intellectual disability 14"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-22 08:53:30"	""	""	"17704778, 19238151"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UPF3B0XLID"	"2023-11-30"
"GENCC_000106-HGNC_21237-OMIM_615824-HP_0000005-GENCC_100004"	"HGNC:21237"	"UQCC2"	"MONDO:0014356"	"mitochondrial complex III deficiency nuclear type 7"	"OMIM:615824"	"Mitochondrial complex III deficiency, nuclear type 7"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:21237"	"UQCC2"	"OMIM:615824"	"Mitochondrial complex III deficiency, nuclear type 7"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"24385928, 28804536"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UQCC20MC3def"	"2023-11-30"
"GENCC_000106-HGNC_12582-OMIM_615158-HP_0000005-GENCC_100004"	"HGNC:12582"	"UQCRB"	"MONDO:0014064"	"mitochondrial complex III deficiency nuclear type 3"	"OMIM:615158"	"Mitochondrial complex III deficiency, nuclear type 3"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12582"	"UQCRB"	"OMIM:615158"	"mitochondrial complex III deficiency nuclear type 3"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"12709789, 25446085, 28604960"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UQCRB0MC3def"	"2023-11-30"
"GENCC_000106-HGNC_12585-OMIM_619279-HP_0000005-GENCC_100004"	"HGNC:12585"	"UQCRC1"	"MONDO:0036193"	"parkinsonism with polyneuropathy"	"OMIM:619279"	"Parkinsonism with polyneuropathy"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12585"	"UQCRC1"	"OMIM:619279"	"Parkinsonism with polyneuropathy"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-09-23 06:50:19"	""	""	"30788857, 32666668, 33141179, 33248804"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UQCRC10UQCRC1rel"	"2023-11-30"
"GENCC_000106-HGNC_12586-OMIM_615160-HP_0000007-GENCC_100002"	"HGNC:12586"	"UQCRC2"	"MONDO:0014066"	"mitochondrial complex III deficiency nuclear type 5"	"OMIM:615160"	"Mitochondrial complex III deficiency, nuclear type 5"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12586"	"UQCRC2"	"OMIM:615160"	"Mitochondrial complex III deficiency, nuclear type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-06-01 11:32:57"	""	""	"23281071, 28275242"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UQCRC20MC3def"	"2023-11-30"
"GENCC_000106-HGNC_12587-OMIM_618775-HP_0000007-GENCC_100004"	"HGNC:12587"	"UQCRFS1"	"MONDO:0032909"	"mitochondrial complex 3 deficiency, nuclear type 10"	"OMIM:618775"	"Mitochondrial complex III deficiency, nuclear type 10"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12587"	"UQCRFS1"	"OMIM:618775"	"mitochondrial complex 3 deficiency, nuclear type 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-03-08 10:11:26"	""	""	"31883641"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UQCRFS10UQCRFS1rel"	"2023-11-30"
"GENCC_000106-HGNC_463-OMIM_620379-HP_0000007-GENCC_100002"	"HGNC:463"	"AMFR"	"MONDO:0957274"	"spastic paraplegia 89, autosomal recessive"	"OMIM:620379"	"Spastic paraplegia 89, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:463"	"AMFR"	"OMIM:620379"	"Spastic paraplegia 89, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:34:12"	""	""	"37119330"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"AMFR0AMFRrel"	"2023-11-30"
"GENCC_000106-HGNC_29594-OMIM_615159-HP_0000005-GENCC_100004"	"HGNC:29594"	"UQCRQ"	"MONDO:0014065"	"mitochondrial complex III deficiency nuclear type 4"	"OMIM:615159"	"Mitochondrial complex III deficiency, nuclear type 4"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29594"	"UQCRQ"	"OMIM:615159"	"mitochondrial complex III deficiency nuclear type 4"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"18439546"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UQCRQ0MC3def"	"2023-11-30"
"GENCC_000106-HGNC_26444-OMIM_276880-HP_0000007-GENCC_100004"	"HGNC:26444"	"UROC1"	"MONDO:0010167"	"urocanic aciduria"	"OMIM:276880"	"?Urocanase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26444"	"UROC1"	"OMIM:276880"	"urocanic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:47"	""	""	"19304569, 251416, 2739112, 27391121, 282820, 30619714"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UROC10UrocanaseDef"	"2023-11-30"
"GENCC_000106-HGNC_12591-OMIM_176100-HP_0000006-GENCC_100002"	"HGNC:12591"	"UROD"	"MONDO:0008296"	"familial porphyria cutanea tarda"	"OMIM:176100"	"Porphyria cutanea tarda"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12591"	"UROD"	"OMIM:176100"	"familial porphyria cutanea tarda"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:32"	""	""	"19233912, 19419417, 23545314"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UROD0Porphyri04"	"2023-11-30"
"GENCC_000106-HGNC_12591-OMIM_176100-HP_0000007-GENCC_100002"	"HGNC:12591"	"UROD"	"MONDO:0008296"	"familial porphyria cutanea tarda"	"OMIM:176100"	"Porphyria cutanea tarda"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12591"	"UROD"	"OMIM:176100"	"familial porphyria cutanea tarda"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 08:49:32"	""	""	"12071824, 1634232, 17240319, 18462440, 20479301, 24175354, 3775362"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"UROD0Porphyri05"	"2023-11-30"
"GENCC_000106-HGNC_25792-OMIM_604173-HP_0000007-GENCC_100002"	"HGNC:25792"	"USB1"	"MONDO:0011405"	"poikiloderma with neutropenia"	"OMIM:604173"	"Poikiloderma with neutropenia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25792"	"USB1"	"OMIM:604173"	"poikiloderma with neutropenia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 18:37:42"	""	""	"20004881, 20817924, 21967010, 25044170, 27247962"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USB10PoikiloNeutro"	"2023-11-30"
"GENCC_000106-HGNC_12597-OMIM_602092-HP_0000007-GENCC_100002"	"HGNC:12597"	"USH1C"	"MONDO:0011192"	"autosomal recessive nonsyndromic hearing loss 18A"	"OMIM:602092"	"Deafness, autosomal recessive 18A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12597"	"USH1C"	"OMIM:602092"	"autosomal recessive nonsyndromic hearing loss 18A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"12107438, 12136232, 24154662, 24416283, 26226137, 27848944"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"Deafness0USH1C"	"2023-11-30"
"GENCC_000106-HGNC_12597-OMIM_602092-HP_0000005-GENCC_100004"	"HGNC:12597"	"USH1C"	"MONDO:0011192"	"autosomal recessive nonsyndromic hearing loss 18A"	"OMIM:602092"	"Deafness, autosomal recessive 18A"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12597"	"USH1C"	"OMIM:602092"	"autosomal recessive nonsyndromic hearing loss 18A"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"31858762"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USH1C0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_12597-OMIM_276904-HP_0000007-GENCC_100002"	"HGNC:12597"	"USH1C"	"MONDO:0010171"	"Usher syndrome type 1C"	"OMIM:276904"	"Usher syndrome, type 1C"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12597"	"USH1C"	"OMIM:276904"	"Usher syndrome type 1C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:21"	""	""	"10973247, 17407589, 20301442, 21203349, 22135276, 25333064, 25404053"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USH1C0Usher"	"2023-11-30"
"GENCC_000106-HGNC_16356-OMIM_606943-HP_0000007-GENCC_100002"	"HGNC:16356"	"USH1G"	"MONDO:0011748"	"Usher syndrome type 1G"	"OMIM:606943"	"Usher syndrome, type 1G"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16356"	"USH1G"	"OMIM:606943"	"Usher syndrome type 1G"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:49"	""	""	"12588794, 21044053, 22219650, 22876113, 26969326"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"Usher1G"	"2023-11-30"
"GENCC_000106-HGNC_12601-OMIM_613809-HP_0000007-GENCC_100002"	"HGNC:12601"	"USH2A"	"MONDO:0013436"	"retinitis pigmentosa 39"	"OMIM:613809"	"Retinitis pigmentosa 39"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12601"	"USH2A"	"OMIM:613809"	"Retinitis pigmentosa 39"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-12 15:26:23"	""	""	"12525556, 20301590, 20507924, 25472526, 25649381, 26667666"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USH2A0RP"	"2023-11-30"
"GENCC_000106-HGNC_12601-OMIM_276901-HP_0000007-GENCC_100002"	"HGNC:12601"	"USH2A"	"MONDO:0010169"	"Usher syndrome type 2A"	"OMIM:276901"	"{Retinal disease in Usher syndrome type IIA, modifier of}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12601"	"USH2A"	"OMIM:276901"	"Usher syndrome type 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-12 15:35:41"	""	""	"10729113, 10909849, 21895633, 22135276, 25333064, 25404053"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USH2A0Usher"	"2023-11-30"
"GENCC_000106-HGNC_13485-OMIM_301101-HP_0000005-GENCC_100004"	"HGNC:13485"	"USP26"	"MONDO:0859478"	"spermatogenic failure, X-linked, 6"	"OMIM:301101"	"Spermatogenic failure, X-linked, 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13485"	"USP26"	"OMIM:301101"	"Spermatogenic failure, X-linked, 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-06-29 18:40:40"	""	""	"15970005, 18377898, 19515807, 22634129, 23779098, 25755145, 27089915, 29111204, 30887115, 31551464, 32202304, 32410375"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USP260Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_20080-OMIM_618513-HP_0000005-GENCC_100004"	"HGNC:20080"	"USP45"	"MONDO:0032794"	"leber congenital amaurosis 19"	"OMIM:618513"	"?Leber congenital amaurosis 19"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20080"	"USP45"	"OMIM:618513"	"?Leber congenital amaurosis 19"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-01 14:16:23"	""	""	"30573563"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USP450Leber"	"2023-11-30"
"GENCC_000106-HGNC_13552-OMIM_620384-HP_0000006-GENCC_100002"	"HGNC:13552"	"ATP11A"	"MONDO:0957279"	"auditory neuropathy, autosomal dominant 2"	"OMIM:620384"	"?Auditory neuropathy, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13552"	"ATP11A"	"OMIM:620384"	"?Auditory neuropathy, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:35:21"	""	""	"35278131, 36300302"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ATP11A0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_29255-OMIM_619658-HP_0000007-GENCC_100002"	"HGNC:29255"	"USP53"	"MONDO:0030503"	"cholestasis, progressive familial intrahepatic, 7, with or without hearing loss"	"OMIM:619658"	"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29255"	"USP53"	"OMIM:619658"	"Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-15 14:04:54"	""	""	"32759993, 30250217, 32124521, 33661244, 26609154"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USP530Cholestasis"	"2023-11-30"
"GENCC_000106-HGNC_12632-OMIM_300968-HP_0001417-GENCC_100002"	"HGNC:12632"	"USP9X"	"MONDO:0010502"	"intellectual disability, X-linked 99, syndromic, female-restricted"	"OMIM:300968"	"Intellectual developmental disorder, X-linked 99, syndromic, female-restricted"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12632"	"USP9X"	"OMIM:300968"	"intellectual disability, X-linked 99, syndromic, female-restricted"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-14 09:18:14"	""	""	"23861879, 24607389, 26833328, 28377321"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USP9X0XLID"	"2023-11-30"
"GENCC_000106-HGNC_12632-OMIM_300919-HP_0001417-GENCC_100002"	"HGNC:12632"	"USP9X"	"MONDO:0010487"	"intellectual disability, X-linked 99"	"OMIM:300919"	"Intellectual developmental disorder, X-linked 99"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12632"	"USP9X"	"OMIM:300919"	"intellectual disability, X-linked 99"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-26 16:54:34"	""	""	"31443933"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"USP9X0XLID02"	"2023-11-30"
"GENCC_000106-HGNC_14378-OMIM_620400-HP_0000005-GENCC_100004"	"HGNC:14378"	"NOP10"	"MONDO:0957294"	"pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9"	"OMIM:620400"	"?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:14378"	"NOP10"	"OMIM:620400"	"?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-21 20:52:08"	""	""	"1902465, 35078193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"NOP100IPF"	"2023-11-30"
"GENCC_000106-HGNC_25507-OMIM_617054-HP_0000007-GENCC_100002"	"HGNC:25507"	"VAC14"	"MONDO:0014889"	"striatonigral degeneration, childhood-onset"	"OMIM:617054"	"Striatonigral degeneration, childhood-onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25507"	"VAC14"	"OMIM:617054"	"striatonigral degeneration, childhood-onset"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-14 14:34:53"	""	""	"17956977, 27292112, 28502045, 28635952, 29296614, 31387860, 31591492, 31876398, 33248288"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VAC140VAC14rel"	"2023-11-30"
"GENCC_000106-HGNC_12642-OMIM_618323-HP_0000007-GENCC_100002"	"HGNC:12642"	"VAMP1"	"MONDO:0032675"	"myasthenic syndrome, congenital, 25, presynaptic"	"OMIM:618323"	"Myasthenic syndrome, congenital, 25"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12642"	"VAMP1"	"OMIM:618323"	"myasthenic syndrome, congenital, 25, presynaptic"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-26 14:39:05"	""	""	"28168212, 28253535, 28600779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VAMP10CMS"	"2023-11-30"
"GENCC_000106-HGNC_12642-OMIM_108600-HP_0000006-GENCC_100002"	"HGNC:12642"	"VAMP1"	"MONDO:0007164"	"spastic ataxia 1"	"OMIM:108600"	"Spastic ataxia 1, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12642"	"VAMP1"	"OMIM:108600"	"Spastic ataxia 1, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:43"	""	""	"22958904, 27957547"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VAMP10SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_12643-OMIM_618760-HP_0000006-GENCC_100002"	"HGNC:12643"	"VAMP2"	"MONDO:0032900"	"neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"	"OMIM:618760"	"Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12643"	"VAMP2"	"OMIM:618760"	"neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:43"	""	""	"30929742, 32336483"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VAMP20VAMP2rel"	"2023-11-30"
"GENCC_000106-HGNC_12649-OMIM_608627-HP_0000006-GENCC_100002"	"HGNC:12649"	"VAPB"	"MONDO:0012077"	"amyotrophic lateral sclerosis type 8"	"OMIM:608627"	"Amyotrophic lateral sclerosis 8"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12649"	"VAPB"	"OMIM:608627"	"amyotrophic lateral sclerosis type 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-01-13 10:33:55"	""	""	"15372378, 16729899, 16967488, 17804640, 18322265, 20008544, 20377183, 20447143, 20577002, 21275991, 21685205, 22258555, 23446633, 23771029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VAPB0ALS"	"2023-11-30"
"GENCC_000106-HGNC_21642-OMIM_615917-HP_0000007-GENCC_100002"	"HGNC:21642"	"VARS2"	"MONDO:0014397"	"combined oxidative phosphorylation defect type 20"	"OMIM:615917"	"Combined oxidative phosphorylation deficiency 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21642"	"VARS2"	"OMIM:615917"	"combined oxidative phosphorylation defect type 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-18 09:35:21"	""	""	"24827421, 25058219, 29313548, 29314458, 6257493"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VARS20OXPHOS"	"2023-11-30"
"GENCC_000106-HGNC_12660-OMIM_614402-HP_0000007-GENCC_100004"	"HGNC:12660"	"VAX1"	"MONDO:0013734"	"microphthalmia, syndromic 11"	"OMIM:614402"	"?Microphthalmia, syndromic 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12660"	"VAX1"	"OMIM:614402"	"microphthalmia, syndromic 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"22095910, 23463464"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VAX10Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_2464-OMIM_143200-HP_0000006-GENCC_100002"	"HGNC:2464"	"VCAN"	"MONDO:0007740"	"Wagner disease"	"OMIM:143200"	"Wagner syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:2464"	"VCAN"	"OMIM:143200"	"Wagner disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-21 21:57:32"	""	""	"16043844, 16877430, 21738396, 22739342, 23462753"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VCAN0Wagner"	"2023-11-30"
"GENCC_000106-HGNC_12665-OMIM_611407-HP_0000006-GENCC_100002"	"HGNC:12665"	"VCL"	"MONDO:0012667"	"dilated cardiomyopathy 1W"	"OMIM:611407"	"Cardiomyopathy, dilated, 1W"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12665"	"VCL"	"OMIM:611407"	"dilated cardiomyopathy 1W"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-06-11 08:50:35"	""	""	"11815424, 17785437, 20474083, 24062880, 24503780, 25163546, 26458567, 26573135, 27532257, 30165862, 30609409, 30923642, 32516855"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VCL0DCM"	"2023-11-30"
"GENCC_000106-HGNC_12665-OMIM_613255-HP_0000006-GENCC_100004"	"HGNC:12665"	"VCL"	"MONDO:0013200"	"hypertrophic cardiomyopathy 15"	"OMIM:613255"	"Cardiomyopathy, hypertrophic, 15"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12665"	"VCL"	"OMIM:613255"	"hypertrophic cardiomyopathy 15"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-04-24 15:32:31"	""	""	"11815424, 16712796, 17785437, 23785128, 24062880, 24503780, 30165862"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VCL0HCM"	"2023-11-30"
"GENCC_000106-HGNC_12666-OMIM_613954-HP_0000006-GENCC_100002"	"HGNC:12666"	"VCP"	"MONDO:0013501"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 6"	"OMIM:613954"	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12666"	"VCP"	"OMIM:613954"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-26 17:56:30"	""	""	"21145000, 23333620"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VCP0ALS"	"2023-11-30"
"GENCC_000106-HGNC_12666-OMIM_616687-HP_0000006-GENCC_100002"	"HGNC:12666"	"VCP"	"MONDO:0014735"	"Charcot-Marie-Tooth disease type 2Y"	"OMIM:616687"	"Charcot-Marie-Tooth disease, type 2Y"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12666"	"VCP"	"OMIM:616687"	"Charcot-Marie-Tooth disease, type 2Y"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-17 12:54:30"	""	""	"25125609, 25878907, 32165109"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VCP0CMT"	"2023-11-30"
"GENCC_000106-HGNC_12666-OMIM_167320-HP_0000006-GENCC_100002"	"HGNC:12666"	"VCP"	"MONDO:0008178"	"inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1"	"OMIM:167320"	"Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12666"	"VCP"	"OMIM:167320"	"Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-05 22:57:46"	""	""	"15034582, 18845250, 19506019, 22270372"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VCP0IBMPFD"	"2023-11-30"
"GENCC_000106-HGNC_12679-OMIM_277440-HP_0000007-GENCC_100002"	"HGNC:12679"	"VDR"	"MONDO:0010186"	"vitamin D-dependent rickets, type 2A"	"OMIM:277440"	"Rickets, vitamin D-resistant, type IIA"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12679"	"VDR"	"OMIM:277440"	"vitamin D-dependent rickets, type 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-06 15:05:07"	""	""	"10204116, 24246681"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VDR0Rickets,"	"2023-11-30"
"GENCC_000106-HGNC_20361-OMIM_620416-HP_0000006-GENCC_100002"	"HGNC:20361"	"SPTSSA"	"MONDO:0957308"	"spastic paraplegia 90A, autosomal dominant"	"OMIM:620416"	"Spastic paraplegia 90A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:20361"	"SPTSSA"	"OMIM:620416"	"Spastic paraplegia 90A, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 15:20:37"	""	""	"36718090"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTSSA0SpasticPara"	"2023-11-30"
"GENCC_000106-HGNC_12687-OMIM_263400-HP_0000007-GENCC_100002"	"HGNC:12687"	"VHL"	"MONDO:0009892"	"Chuvash polycythemia"	"OMIM:263400"	"Erythrocytosis, familial, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12687"	"VHL"	"OMIM:263400"	"Chuvash polycythemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:22"	""	""	"10102622, 12393546, 12415268, 12844285, 29891534, 31350093, 9671762, 9751722"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VHL0FamErythr"	"2023-11-30"
"GENCC_000106-HGNC_12687-OMIM_193300-HP_0000006-GENCC_100002"	"HGNC:12687"	"VHL"	"MONDO:0008667"	"von Hippel-Lindau disease"	"OMIM:193300"	"{von Hippel-Lindau syndrome, modifier of}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12687"	"VHL"	"OMIM:193300"	"von Hippel-Lindau disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-24 15:40:17"	""	""	"10102622, 10823831, 12202531, 15796386, 18043261, 1967104, 1982450, 2011596, 20151405, 21386872, 2274658, 22763871, 2328994, 24003980, 25611110, 28620007, 2894613, 29075773, 31095066, 31649892, 7660122, 8956040, 9671762, 9751722"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VHL0VHL"	"2023-11-30"
"GENCC_000106-HGNC_12692-OMIM_116300-HP_0000006-GENCC_100002"	"HGNC:12692"	"VIM"	"MONDO:0007286"	"cataract 30"	"OMIM:116300"	"Cataract 30, pulverulent"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12692"	"VIM"	"OMIM:116300"	"Cataract 30, pulverulent"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:43"	""	""	"19126778, 26694549, 27334676, 28450710"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VIM0CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_23663-OMIM_607473-HP_0000005-GENCC_100004"	"HGNC:23663"	"VKORC1"	"MONDO:0011837"	"vitamin K-dependent clotting factors, combined deficiency of, type 2"	"OMIM:607473"	"Vitamin K-dependent clotting factors, combined deficiency of, 2"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:23663"	"VKORC1"	"OMIM:607473"	"Vitamin K-dependent clotting factors, combined deficiency of, 2"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:49"	""	""	"14765194"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VKORC10VitaminK"	"2023-11-30"
"GENCC_000106-HGNC_12698-OMIM_224050-HP_0000007-GENCC_100002"	"HGNC:12698"	"VLDLR"	"MONDO:0024542"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"	"OMIM:224050"	"Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12698"	"VLDLR"	"OMIM:224050"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"18043714, 18326629, 22532556, 22700954, 23813796"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VLDLR0CerebHypo"	"2023-11-30"
"GENCC_000106-HGNC_22082-OMIM_310440-HP_0001417-GENCC_100002"	"HGNC:22082"	"VMA21"	"MONDO:0010684"	"X-linked myopathy with excessive autophagy"	"OMIM:310440"	"Myopathy, X-linked, with excessive autophagy"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:22082"	"VMA21"	"OMIM:310440"	"Myopathy, X-linked, with excessive autophagy"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-12 21:26:11"	""	""	"16217076, 203547, 23315026, 23850239, 24488655, 25683699, 25817839"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VMA210Myopathy"	"2023-11-30"
"GENCC_000106-HGNC_14583-OMIM_616683-HP_0000007-GENCC_100002"	"HGNC:14583"	"VPS11"	"MONDO:0014732"	"hypomyelinating leukodystrophy 12"	"OMIM:616683"	"Leukodystrophy, hypomyelinating, 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14583"	"VPS11"	"OMIM:616683"	"Leukodystrophy, hypomyelinating, 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:56"	""	""	"26307567, 27120463, 27473128"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS110Leukodystrophy"	"2023-11-30"
"GENCC_000106-HGNC_23594-OMIM_616840-HP_0000007-GENCC_100002"	"HGNC:23594"	"VPS13C"	"MONDO:0014796"	"autosomal recessive early-onset Parkinson disease 23"	"OMIM:616840"	"Parkinson disease 23, autosomal recessive, early onset"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:23594"	"VPS13C"	"OMIM:616840"	"autosomal recessive early-onset Parkinson disease 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-09 07:34:37"	""	""	"26942284, 28137300"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS13C0Parkinson"	"2023-11-30"
"GENCC_000106-HGNC_14584-OMIM_619291-HP_0000006-GENCC_100002"	"HGNC:14584"	"VPS16"	"MONDO:0025691"	"dystonia 30"	"OMIM:619291"	"Dystonia 30"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:14584"	"VPS16"	"OMIM:619291"	"Dystonia 30"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-04 12:58:31"	""	""	"27174565, 32808683"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS160Dystonia"	"2023-11-30"
"GENCC_000106-HGNC_14584-OMIM_619291-HP_0000007-GENCC_100004"	"HGNC:14584"	"VPS16"	"MONDO:0025691"	"dystonia 30"	"OMIM:619291"	"Dystonia 30"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:14584"	"VPS16"	"OMIM:619291"	"Dystonia 30"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-05-04 12:58:31"	""	""	"27174565"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS160Dystonia02"	"2023-11-30"
"GENCC_000106-HGNC_12712-OMIM_208085-HP_0000007-GENCC_100002"	"HGNC:12712"	"VPS33B"	"MONDO:0008822"	"arthrogryposis, renal dysfunction, and cholestasis 1"	"OMIM:208085"	"Arthrogryposis, renal dysfunction, and cholestasis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12712"	"VPS33B"	"OMIM:208085"	"arthrogryposis, renal dysfunction, and cholestasis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-04 13:34:17"	""	""	"15052268, 16896922, 28017832, 30561130"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS33B0Arthrogr"	"2023-11-30"
"GENCC_000106-HGNC_12713-OMIM_619389-HP_0000005-GENCC_100004"	"HGNC:12713"	"VPS41"	"MONDO:0030312"	"spinocerebellar ataxia, autosomal recessive 29"	"OMIM:619389"	"Spinocerebellar ataxia, autosomal recessive 29"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12713"	"VPS41"	"OMIM:619389"	"Spinocerebellar ataxia, autosomal recessive 29"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-07-09 13:26:20"	""	""	"32808683"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS410VPS41rel"	"2023-11-30"
"GENCC_000106-HGNC_13488-OMIM_619273-HP_0000006-GENCC_100002"	"HGNC:13488"	"VPS4A"	"MONDO:0035819"	"cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"	"OMIM:619273"	"CIMDAG syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13488"	"VPS4A"	"OMIM:619273"	"CIMDAG syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-05-03 18:12:18"	""	""	"25356899, 33186545"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS4A0ID"	"2023-11-30"
"GENCC_000106-HGNC_1172-OMIM_618606-HP_0000005-GENCC_100004"	"HGNC:1172"	"VPS51"	"MONDO:0032831"	"pontocerebellar hypoplasia, type 13"	"OMIM:618606"	"Pontocerebellar hypoplasia, type 13"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1172"	"VPS51"	"OMIM:618606"	"pontocerebellar hypoplasia, type 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-10-15 07:44:52"	""	""	"30624672, 31207318"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS510VPS51rel"	"2023-11-30"
"GENCC_000106-HGNC_25608-OMIM_618606-HP_0000007-GENCC_100002"	"HGNC:25608"	"VPS53"	"MONDO:0032831"	"pontocerebellar hypoplasia, type 13"	"OMIM:618606"	"Pontocerebellar hypoplasia, type 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:25608"	"VPS53"	"OMIM:618606"	"pontocerebellar hypoplasia, type 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-02-14 15:59:53"	""	""	"18511934, 201512, 24577744, 277470, 28567303, 29760218, 30100179, 31418091, 32209057"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VPS530PCH"	"2023-11-30"
"GENCC_000106-HGNC_12718-OMIM_607596-HP_0000007-GENCC_100002"	"HGNC:12718"	"VRK1"	"MONDO:0011866"	"pontocerebellar hypoplasia type 1A"	"OMIM:607596"	"Pontocerebellar hypoplasia type 1A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12718"	"VRK1"	"OMIM:607596"	"pontocerebellar hypoplasia type 1A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:02"	""	""	"19646678, 21937992, 24126608, 25609612, 26583492, 26583493, 27281532, 30108342, 30617279, 30847374, 31090908, 31167812, 31178479, 31527692, 31560180, 31837156"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VRK10HMN"	"2023-11-30"
"GENCC_000106-HGNC_12723-OMIM_122000-HP_0000005-GENCC_100004"	"HGNC:12723"	"VSX1"	"MONDO:0007378"	"posterior polymorphous corneal dystrophy 1"	"OMIM:122000"	"Corneal dystrophy, posterior polymorphous, 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12723"	"VSX1"	"OMIM:122000"	"posterior polymorphous corneal dystrophy 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-06 14:13:22"	""	""	"11978762, 15623752, 23592923"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VSX10CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_12723-OMIM_148300-HP_0000005-GENCC_100004"	"HGNC:12723"	"VSX1"	"MONDO:0007851"	"keratoconus 1"	"OMIM:148300"	"Keratoconus 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12723"	"VSX1"	"OMIM:148300"	"keratoconus 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-03-06 14:13:22"	""	""	"19956409, 21365019, 21976959, 22531431, 23506487, 25963163, 29111844, 29924831, 30090183, 30535423, 30574758"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VSX10Keratoconus"	"2023-11-30"
"GENCC_000106-HGNC_12723-OMIM_614195-HP_0000005-GENCC_100004"	"HGNC:12723"	"VSX1"	"MONDO:0013618"	"craniofacial anomalies and anterior segment dysgenesis syndrome"	"OMIM:614195"	"?Craniofacial anomalies and anterior segment dysgenesis syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12723"	"VSX1"	"OMIM:614195"	"craniofacial anomalies and anterior segment dysgenesis syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:17"	""	""	"15051220, 25963163, 30181649"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VSX10VSX1rel"	"2023-11-30"
"GENCC_000106-HGNC_1975-OMIM_610092-HP_0000007-GENCC_100002"	"HGNC:1975"	"VSX2"	"MONDO:0012408"	"microphthalmia, isolated, with coloboma 3"	"OMIM:610092"	"Microphthalmia/coloboma 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:1975"	"VSX2"	"OMIM:610092"	"microphthalmia, isolated, with coloboma 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:47"	""	""	"10932181, 13994395, 15257456, 17661825, 20414678, 24033328, 26995144, 8630490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VSX20Microphthal"	"2023-11-30"
"GENCC_000106-HGNC_28385-OMIM_616948-HP_0000007-GENCC_100004"	"HGNC:28385"	"VWA3B"	"MONDO:0014845"	"spinocerebellar ataxia, autosomal recessive 22"	"OMIM:616948"	"?Spinocerebellar ataxia, autosomal recessive 22"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28385"	"VWA3B"	"OMIM:616948"	"spinocerebellar ataxia, autosomal recessive 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-07-29 12:54:48"	""	""	"23352160, 26157035, 28600779"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VWA3B0?Spinoce03"	"2023-11-30"
"GENCC_000106-HGNC_29071-OMIM_620422-HP_0000005-GENCC_100004"	"HGNC:29071"	"VWA8"	"MONDO:0957314"	"retinitis pigmentosa 97"	"OMIM:620422"	"?Retinitis pigmentosa 97"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29071"	"VWA8"	"OMIM:620422"	"?Retinitis pigmentosa 97"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 15:19:39"	""	""	"37012052"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VWA80RP"	"2023-11-30"
"GENCC_000106-HGNC_12726-OMIM_193400-HP_0000006-GENCC_100002"	"HGNC:12726"	"VWF"	"MONDO:0008668"	"von Willebrand disease 1"	"OMIM:193400"	"von Willebrand disease, type 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12726"	"VWF"	"OMIM:193400"	"von Willebrand disease, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 12:11:27"	""	""	"10669167, 14613933, 16870550, 19060241, 19506356, 20303469, 21206511, 21346256, 21711445, 23406206, 25690668, 25696906, 25756206, 26843468"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VWF0vonWillebrand"	"2023-11-30"
"GENCC_000106-HGNC_12726-OMIM_613554-HP_0000007-GENCC_100002"	"HGNC:12726"	"VWF"	"MONDO:0013304"	"von Willebrand disease 2"	"OMIM:613554"	"von Willebrand disease, types 2A, 2B, 2M, and 2N"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12726"	"VWF"	"OMIM:613554"	"von Willebrand disease 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-09-20 09:00:42"	""	""	"12737944, 1832934, 19506358, 19601990, 22722677, 22875612, 26207643, 26843468"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"VWF0vonWillebrand02"	"2023-11-30"
"GENCC_000106-HGNC_12731-OMIM_300299-HP_0001417-GENCC_100002"	"HGNC:12731"	"WAS"	"MONDO:0010294"	"X-linked severe congenital neutropenia"	"OMIM:300299"	"Neutropenia, severe congenital, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12731"	"WAS"	"OMIM:300299"	"X-linked severe congenital neutropenia"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-30 10:09:10"	""	""	"11242115, 16804117, 19006568"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WAS0Neutropenia"	"2023-11-30"
"GENCC_000106-HGNC_12731-OMIM_301000-HP_0001417-GENCC_100002"	"HGNC:12731"	"WAS"	"MONDO:0010518"	"Wiskott-Aldrich syndrome"	"OMIM:301000"	"Wiskott-Aldrich syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12731"	"WAS"	"OMIM:301000"	"Wiskott-Aldrich syndrome"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-06 15:49:04"	""	""	"105059, 15284122"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WAS0WASspectrum"	"2023-11-30"
"GENCC_000106-HGNC_28984-OMIM_220210-HP_0000007-GENCC_100002"	"HGNC:28984"	"WASHC5"	"MONDO:0009073"	"Ritscher-Schinzel syndrome 1"	"OMIM:220210"	"Ritscher-Schinzel syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28984"	"WASHC5"	"OMIM:220210"	"Ritscher-Schinzel syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-09-29 19:06:28"	""	""	"20833645, 220210, 24065355, 36130690"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WASHC50DevMalformation"	"2023-11-30"
"GENCC_000106-HGNC_12738-OMIM_617639-HP_0000005-GENCC_100004"	"HGNC:12738"	"WBP2"	"MONDO:0033199"	"hearing loss, autosomal recessive 107"	"OMIM:617639"	"Deafness, autosomal recessive 107"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12738"	"WBP2"	"OMIM:617639"	"hearing loss, autosomal recessive 107"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:02"	""	""	"26881968"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WBP20Deafness"	"2023-11-30"
"GENCC_000106-HGNC_28027-OMIM_615992-HP_0000007-GENCC_100002"	"HGNC:28027"	"WDPCP"	"MONDO:0014443"	"Bardet-Biedl syndrome 15"	"OMIM:615992"	"Bardet-Biedl syndrome 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28027"	"WDPCP"	"OMIM:615992"	"Bardet-Biedl syndrome 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-03-01 23:11:56"	""	""	"20671153, 239650, 24302887, 25427950, 27158779, 29588463"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDPCP0BardetBiedl"	"2023-11-30"
"GENCC_000106-HGNC_20361-OMIM_620417-HP_0000005-GENCC_100004"	"HGNC:20361"	"SPTSSA"	"MONDO:0957309"	"spastic paraplegia 90B, autosomal recessive"	"OMIM:620417"	"?Spastic paraplegia 90B, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20361"	"SPTSSA"	"OMIM:620417"	"?Spastic paraplegia 90B, autosomal recessive"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 15:21:33"	""	""	"36718090"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SPTSSA0SPTSSArel"	"2023-11-30"
"GENCC_000106-HGNC_18340-OMIM_614376-HP_0000007-GENCC_100002"	"HGNC:18340"	"WDR19"	"MONDO:0013717"	"asphyxiating thoracic dystrophy 5"	"OMIM:614376"	"Short-rib thoracic dysplasia 5 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18340"	"WDR19"	"OMIM:614376"	"asphyxiating thoracic dystrophy 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-11 14:25:15"	""	""	"22019273, 26275793, 29068549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR190AsphyxThoracDys"	"2023-11-30"
"GENCC_000106-HGNC_18340-OMIM_614377-HP_0000007-GENCC_100002"	"HGNC:18340"	"WDR19"	"MONDO:0013718"	"nephronophthisis 13"	"OMIM:614377"	"Nephronophthisis 13"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18340"	"WDR19"	"OMIM:614377"	"Nephronophthisis 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:42:04"	""	""	"22019273, 23559409, 23683095, 25726036, 26489029"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR190Nephronophthisi"	"2023-11-30"
"GENCC_000106-HGNC_18340-OMIM_616307-HP_0000007-GENCC_100002"	"HGNC:18340"	"WDR19"	"MONDO:0014579"	"Senior-Loken syndrome 8"	"OMIM:616307"	"Senior-Loken syndrome 8"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18340"	"WDR19"	"OMIM:616307"	"Senior-Loken syndrome 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-04 15:41:45"	""	""	"22019273, 23559409, 23683095"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR190SeniorLoken"	"2023-11-30"
"GENCC_000106-HGNC_18340-OMIM_614378-HP_0000007-GENCC_100002"	"HGNC:18340"	"WDR19"	"MONDO:0013719"	"cranioectodermal dysplasia 4"	"OMIM:614378"	"Cranioectodermal dysplasia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:18340"	"WDR19"	"OMIM:614378"	"cranioectodermal dysplasia 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-02-02 12:14:32"	""	""	"22019273, 23683095, 27241786, 29068549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR190WDR19rel"	"2023-11-30"
"GENCC_000106-HGNC_28296-OMIM_615633-HP_0000007-GENCC_100002"	"HGNC:28296"	"DYNC2I2"	"MONDO:0014287"	"short-rib thoracic dysplasia 11 with or without polydactyly"	"OMIM:615633"	"Short-rib thoracic dysplasia 11 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:28296"	"DYNC2I2"	"OMIM:615633"	"short-rib thoracic dysplasia 11 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:15:56"	""	""	"24183449, 24183451, 28379358, 29068549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR340ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_29250-OMIM_614091-HP_0000007-GENCC_100002"	"HGNC:29250"	"WDR35"	"MONDO:0013569"	"short-rib thoracic dysplasia 7 with or without polydactyly"	"OMIM:614091"	"Short-rib thoracic dysplasia 7 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29250"	"WDR35"	"OMIM:614091"	"Short-rib thoracic dysplasia 7 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-08-30 09:15:17"	""	""	"20166484, 20817137, 21473986, 22486404, 25908617, 25914204, 26968886, 28332779, 28400947, 28870638, 29068549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR350AsphyxThoracDys"	"2023-11-30"
"GENCC_000106-HGNC_30696-OMIM_609887-HP_0000005-GENCC_100004"	"HGNC:30696"	"WDR36"	"MONDO:0012357"	"glaucoma 1, open angle, G"	"OMIM:609887"	"Glaucoma 1, open angle, G"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:30696"	"WDR36"	"OMIM:609887"	"Glaucoma 1, open angle, G"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-01-18 23:19:19"	""	""	"15677485, 16723468, 17960130, 18172102, 19150991, 19347049, 21931130, 24825108, 28658128, 29104481, 31367175"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR360Glaucoma"	"2023-11-30"
"GENCC_000106-HGNC_12756-OMIM_618346-HP_0000007-GENCC_100002"	"HGNC:12756"	"WDR4"	"MONDO:0032690"	"microcephaly, growth deficiency, seizures, and brain malformations"	"OMIM:618346"	"Microcephaly, growth deficiency, seizures, and brain malformations"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12756"	"WDR4"	"OMIM:618346"	"microcephaly, growth deficiency, seizures, and brain malformations"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-16 09:01:56"	""	""	"26416026, 28617965, 29597095, 30079490"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR40PrimDwarfism"	"2023-11-30"
"GENCC_000106-HGNC_28912-OMIM_300894-HP_0001417-GENCC_100002"	"HGNC:28912"	"WDR45"	"MONDO:0010476"	"neurodegeneration with brain iron accumulation 5"	"OMIM:300894"	"Neurodegeneration with brain iron accumulation 5"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:28912"	"WDR45"	"OMIM:300894"	"neurodegeneration with brain iron accumulation 5"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-19 10:00:44"	""	""	"23176820, 23687123, 24368176, 25744623, 26609730, 26859818, 27030146"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR450NBIA"	"2023-11-30"
"GENCC_000106-HGNC_21862-OMIM_615503-HP_0000007-GENCC_100002"	"HGNC:21862"	"DYNC2I1"	"MONDO:0014214"	"short-rib thoracic dysplasia 8 with or without polydactyly"	"OMIM:615503"	"Short-rib thoracic dysplasia 8 with or without polydactyly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:21862"	"DYNC2I1"	"OMIM:615503"	"short-rib thoracic dysplasia 8 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-11-21 21:33:30"	""	""	"23910462, 26874042, 28454995, 29068549, 29271569, 9068549"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR600ShortRibThorDys"	"2023-11-30"
"GENCC_000106-HGNC_26790-OMIM_613211-HP_0000007-GENCC_100002"	"HGNC:26790"	"WDR72"	"MONDO:0013181"	"amelogenesis imperfecta hypomaturation type 2A3"	"OMIM:613211"	"Amelogenesis imperfecta, type IIA3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26790"	"WDR72"	"OMIM:613211"	"amelogenesis imperfecta hypomaturation type 2A3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-07-04 12:46:10"	""	""	"19853237, 20938048, 21597265, 25008349"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR720AmelogenImp"	"2023-11-30"
"GENCC_000106-HGNC_26600-OMIM_610185-HP_0000007-GENCC_100002"	"HGNC:26600"	"WDR81"	"MONDO:0012430"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2"	"OMIM:610185"	"Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26600"	"WDR81"	"OMIM:610185"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-15 10:41:50"	""	""	"21885617, 22686558, 23595742, 26437881, 28969387, 29878067"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WDR810CerebHypo"	"2023-11-30"
"GENCC_000106-HGNC_12762-OMIM_116400-HP_0000006-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0007287"	"cataract 41"	"OMIM:116400"	"?Cataract 41"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12762"	"WFS1"	"OMIM:116400"	"cataract 41"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-29 19:55:54"	""	""	"23531866, 31555371, 34014271"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WFS10CataractCong"	"2023-11-30"
"GENCC_000106-HGNC_12762-OMIM_600965-HP_0000006-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0010963"	"autosomal dominant nonsyndromic hearing loss 6"	"OMIM:600965"	"Deafness, autosomal dominant 6/14/38"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12762"	"WFS1"	"OMIM:600965"	"Deafness, autosomal dominant 6/14/38"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-04-12 18:56:30"	""	""	"11709537, 11709538, 12955714, 17492394, 248846"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WFS10Deafness"	"2023-11-30"
"GENCC_000106-HGNC_12762-OMIM_125853-HP_0000005-GENCC_100004"	"HGNC:12762"	"WFS1"	"MONDO:0005148"	"type 2 diabetes mellitus"	"OMIM:125853"	"{Insulin resistance, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12762"	"WFS1"	"OMIM:125853"	"diabetes mellitus, noninsulin-dependent"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-02-02 12:57:17"	""	""	"35018440"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WFS10TIID"	"2023-11-30"
"GENCC_000106-HGNC_12762-OMIM_222300-HP_0000007-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0009101"	"Wolfram syndrome 1"	"OMIM:222300"	"Wolfram syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12762"	"WFS1"	"OMIM:222300"	"Wolfram syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-09-28 18:11:32"	""	""	"12955714, 16806192, 21446023, 243330, 251462, 31313226"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WFS10Wolfram"	"2023-11-30"
"GENCC_000106-HGNC_12762-OMIM_614296-HP_0000006-GENCC_100002"	"HGNC:12762"	"WFS1"	"MONDO:0013673"	"Wolfram-like syndrome"	"OMIM:614296"	"Wolfram-like syndrome, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12762"	"WFS1"	"OMIM:614296"	"Wolfram-like syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-22 17:49:19"	""	""	"12073007, 16648378, 18544103, 21446023, 21538838, 222300, 31313226, 606201"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WFS10WolframLk"	"2023-11-30"
"GENCC_000106-HGNC_16361-OMIM_607084-HP_0000007-GENCC_100002"	"HGNC:16361"	"WHRN"	"MONDO:0011767"	"autosomal recessive nonsyndromic hearing loss 31"	"OMIM:607084"	"Deafness, autosomal recessive 31"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16361"	"WHRN"	"OMIM:607084"	"autosomal recessive nonsyndromic hearing loss 31"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-10-24 08:53:48"	""	""	"12833159, 15841483"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WHRN0Deafness"	"2023-11-30"
"GENCC_000106-HGNC_16361-OMIM_611383-HP_0000007-GENCC_100002"	"HGNC:16361"	"WHRN"	"MONDO:0012662"	"Usher syndrome type 2D"	"OMIM:611383"	"Usher syndrome, type 2D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:16361"	"WHRN"	"OMIM:611383"	"Usher syndrome type 2D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-11-29 11:17:40"	""	""	"17171570, 22147658, 26338283"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WHRN0Usher"	"2023-11-30"
"GENCC_000106-HGNC_4208-OMIM_620423-HP_0000007-GENCC_100002"	"HGNC:4208"	"GCSH"	"MONDO:0957382"	"multiple mitochondrial dysfunctions syndrome 7"	"OMIM:620423"	"Multiple mitochondrial dysfunctions syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:4208"	"GCSH"	"OMIM:620423"	"Multiple mitochondrial dysfunctions syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 15:18:55"	""	""	"12402263, 15851735, 16450403, 17361008, 25231368, 26179960, 33890291, 36190515"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"GCSH0GlyEnceph"	"2023-11-30"
"GENCC_000106-HGNC_12771-OMIM_208230-HP_0000007-GENCC_100002"	"HGNC:12771"	"CCN6"	"MONDO:0008827"	"progressive pseudorheumatoid arthropathy of childhood"	"OMIM:208230"	"Progressive pseudorheumatoid dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12771"	"CCN6"	"OMIM:208230"	"Progressive pseudorheumatoid dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-12 20:17:27"	""	""	"10471507, 15601861, 17823661, 19064006, 19401829, 22791401, 22987568, 25553839"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WISP30PPAC"	"2023-11-30"
"GENCC_000106-HGNC_30238-OMIM_619648-HP_0000007-GENCC_100002"	"HGNC:30238"	"WLS"	"MONDO:0859209"	"Zaki syndrome"	"OMIM:619648"	"Zaki syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:30238"	"WLS"	"OMIM:619648"	"Zaki syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-03 15:37:53"	""	""	"34587386"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WLS0Zaki syndrome"	"2023-11-30"
"GENCC_000106-HGNC_13829-OMIM_150400-HP_0000006-GENCC_100002"	"HGNC:13829"	"WNT10A"	"MONDO:0007881"	"tooth agenesis, selective, 4"	"OMIM:150400"	"Tooth agenesis, selective, 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:13829"	"WNT10A"	"OMIM:150400"	"Tooth agenesis, selective, 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-08-24 05:34:34"	""	""	"17847007, 22581971, 23991204, 24043634, 25629078"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT10A0ToothAgen"	"2023-11-30"
"GENCC_000106-HGNC_12775-OMIM_617073-HP_0000006-GENCC_100004"	"HGNC:12775"	"WNT10B"	"MONDO:0014901"	"tooth agenesis, selective, 8"	"OMIM:617073"	"Tooth agenesis, selective, 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12775"	"WNT10B"	"OMIM:617073"	"tooth agenesis, selective, 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-18 08:32:34"	""	""	"24574680, 27321946, 29364501"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT10B0toothagenesis"	"2023-11-30"
"GENCC_000106-HGNC_12782-OMIM_273395-HP_0000005-GENCC_100004"	"HGNC:12782"	"WNT3"	"MONDO:0060764"	"tetraamelia syndrome 1"	"OMIM:273395"	"?Tetra-amelia syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12782"	"WNT3"	"OMIM:273395"	"tetraamelia syndrome 1"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-29 11:45:59"	""	""	"14872406"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT30TetraAmelia"	"2023-11-30"
"GENCC_000106-HGNC_12783-OMIM_611812-HP_0000005-GENCC_100004"	"HGNC:12783"	"WNT4"	"MONDO:0012734"	"SERKAL syndrome"	"OMIM:611812"	"?SERKAL syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12783"	"WNT4"	"OMIM:611812"	"SERKAL syndrome"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-10-15 10:06:22"	""	""	"18179883"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT40SERKAL"	"2023-11-30"
"GENCC_000106-HGNC_12786-OMIM_228930-HP_0000007-GENCC_100002"	"HGNC:12786"	"WNT7A"	"MONDO:0009232"	"Fuhrmann syndrome"	"OMIM:228930"	"Fuhrmann syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12786"	"WNT7A"	"OMIM:228930"	"Fuhrmann syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2019-07-26 11:54:07"	""	""	"16826533, 19282404, 21344627, 23266637, 23727605, 7885472"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WNT7A0WNT7Arel"	"2023-11-30"
"GENCC_000106-HGNC_12799-OMIM_616211-HP_0000007-GENCC_100002"	"HGNC:12799"	"WWOX"	"MONDO:0014533"	"developmental and epileptic encephalopathy, 28"	"OMIM:616211"	"Developmental and epileptic encephalopathy 28"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12799"	"WWOX"	"OMIM:616211"	"developmental and epileptic encephalopathy, 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-10 19:30:52"	""	""	"24369382, 24456803, 25411445"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WWOX0EIEE"	"2023-11-30"
"GENCC_000106-HGNC_12799-OMIM_614322-HP_0000007-GENCC_100002"	"HGNC:12799"	"WWOX"	"MONDO:0013687"	"autosomal recessive spinocerebellar ataxia 12"	"OMIM:614322"	"Spinocerebellar ataxia, autosomal recessive 12"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12799"	"WWOX"	"OMIM:614322"	"autosomal recessive spinocerebellar ataxia 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:19"	""	""	"24369382, 25411445"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"WWOX0SCAR"	"2023-11-30"
"GENCC_000106-HGNC_12827-OMIM_616413-HP_0000006-GENCC_100002"	"HGNC:12827"	"XPR1"	"MONDO:0014628"	"basal ganglia calcification, idiopathic, 6"	"OMIM:616413"	"Basal ganglia calcification, idiopathic, 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12827"	"XPR1"	"OMIM:616413"	"basal ganglia calcification, idiopathic, 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-19 12:32:44"	""	""	"25938945"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XPR10BasalGanglia"	"2023-11-30"
"GENCC_000106-HGNC_12828-OMIM_617633-HP_0000005-GENCC_100004"	"HGNC:12828"	"XRCC1"	"MONDO:0033116"	"spinocerebellar ataxia, autosomal recessive 26"	"OMIM:617633"	"?Spinocerebellar ataxia, autosomal recessive 26"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12828"	"XRCC1"	"OMIM:617633"	"?Spinocerebellar ataxia, autosomal recessive 26"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:03"	""	""	"28002403"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XRCC10XRCC1rel"	"2023-11-30"
"GENCC_000106-HGNC_12829-OMIM_619145-HP_0000005-GENCC_100004"	"HGNC:12829"	"XRCC2"	"MONDO:0030869"	"spermatogenic failures 50"	"OMIM:619145"	"Spermatogenic failure 50"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12829"	"XRCC2"	"OMIM:619145"	"Spermatogenic failure 50"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-01-05 10:57:31"	""	""	"30042186"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XRCC20Azoospermia"	"2023-11-30"
"GENCC_000106-HGNC_12829-OMIM_617247-HP_0000007-GENCC_100004"	"HGNC:12829"	"XRCC2"	"MONDO:0014987"	"Fanconi anemia complementation group U"	"OMIM:617247"	"?Fanconi anemia, complementation group U"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12829"	"XRCC2"	"OMIM:617247"	"Fanconi anemia complementation group U"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:01"	""	""	"22232082, 27208205, 30237576, 30489636"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XRCC20Fanconi"	"2023-11-30"
"GENCC_000106-HGNC_12829-OMIM_619146-HP_0000005-GENCC_100004"	"HGNC:12829"	"XRCC2"	"MONDO:0030870"	"premature ovarian failure 17"	"OMIM:619146"	"?Premature ovarian failure 17"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12829"	"XRCC2"	"OMIM:619146"	"?Premature ovarian failure 17"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2021-04-16 09:01:51"	""	""	"30489636"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"XRCC20POF"	"2023-11-30"
"GENCC_000106-HGNC_24877-OMIM_619278-HP_0000007-GENCC_100002"	"HGNC:24877"	"YIPF5"	"MONDO:0025690"	"microcephaly, epilepsy, and diabetes syndrome 2"	"OMIM:619278"	"Microcephaly, epilepsy, and diabetes syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:24877"	"YIPF5"	"OMIM:619278"	"Microcephaly, epilepsy, and diabetes syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-04-26 13:54:31"	""	""	"33164986"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YIPF50DiaMicroEpi"	"2023-11-30"
"GENCC_000106-HGNC_12843-OMIM_617302-HP_0000005-GENCC_100004"	"HGNC:12843"	"YME1L1"	"MONDO:0015011"	"optic atrophy 11"	"OMIM:617302"	"?Optic atrophy 11"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12843"	"YME1L1"	"OMIM:617302"	"?Optic atrophy 11"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:42:02"	""	""	"27495975"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"YME1L10MitochondriOA"	"2023-11-30"
"GENCC_000106-HGNC_12858-OMIM_269840-HP_0000007-GENCC_100002"	"HGNC:12858"	"ZAP70"	"MONDO:0010023"	"combined immunodeficiency due to ZAP70 deficiency"	"OMIM:269840"	"Immunodeficiency 48"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12858"	"ZAP70"	"OMIM:269840"	"Immunodeficiency 48"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-21 15:19:36"	""	""	"10574909, 10748099, 11123350, 18509675, 23124046, 24164480, 8202712"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZAP700SCID"	"2023-11-30"
"GENCC_000106-HGNC_12930-OMIM_612447-HP_0000005-GENCC_100004"	"HGNC:12930"	"ZBTB16"	"MONDO:0012909"	"skeletal defects, genital hypoplasia, and intellectual disability"	"OMIM:612447"	"OMIM:612447"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12930"	"ZBTB16"	"OMIM:612447"	"skeletal defects, genital hypoplasia, and intellectual disability"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:51"	""	""	"18611983"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZBTB160Skeletal"	"2023-11-30"
"GENCC_000106-HGNC_18078-OMIM_619769-HP_0000006-GENCC_100002"	"HGNC:18078"	"ZBTB7A"	"MONDO:0859231"	"macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin"	"OMIM:619769"	"Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:18078"	"ZBTB7A"	"OMIM:619769"	"Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-04-19 09:40:11"	""	""	"27252013, 28135719, 29738522, 31645653, 34515416"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZBTB7A0ZBTB7Arel"	"2023-11-30"
"GENCC_000106-HGNC_20509-OMIM_617125-HP_0000007-GENCC_100004"	"HGNC:20509"	"ZC3H14"	"MONDO:0014930"	"intellectual disability, autosomal recessive 56"	"OMIM:617125"	"Intellectual developmental disorder, autosomal recessive 56"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20509"	"ZC3H14"	"OMIM:617125"	"intellectual disability, autosomal recessive 56"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:19"	""	""	"21734151, 27563065, 27868086, 30125339"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZC3H140MentalRe02"	"2023-11-30"
"GENCC_000106-HGNC_25265-OMIM_618674-HP_0000005-GENCC_100004"	"HGNC:25265"	"ZCCHC8"	"MONDO:0032865"	"pulmonary fibrosis and/or bone marrow failure, telomere-related, 5"	"OMIM:618674"	"?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25265"	"ZCCHC8"	"OMIM:618674"	"?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-12-12 13:48:40"	""	""	"31488579"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZCCHC80IPF"	"2023-11-30"
"GENCC_000106-HGNC_20342-OMIM_300577-HP_0000005-GENCC_100004"	"HGNC:20342"	"ZDHHC15"	"MONDO:0010363"	"intellectual disability, X-linked 91"	"OMIM:300577"	"Intellectual developmental disorder, X-linked 91"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20342"	"ZDHHC15"	"OMIM:300577"	"intellectual disability, X-linked 91"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-12-24 13:05:25"	""	""	"34345675"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZDHHC150ZDHHC15rel"	"2023-11-30"
"GENCC_000106-HGNC_11642-OMIM_609141-HP_0000006-GENCC_100002"	"HGNC:11642"	"ZEB1"	"MONDO:0012200"	"posterior polymorphous corneal dystrophy 3"	"OMIM:609141"	"Corneal dystrophy, posterior polymorphous, 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:11642"	"ZEB1"	"OMIM:609141"	"posterior polymorphous corneal dystrophy 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-01-13 17:00:29"	""	""	"16252232, 17935237, 30851240"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZEB10CornealDys"	"2023-11-30"
"GENCC_000106-HGNC_20152-OMIM_147430-HP_0000005-GENCC_100004"	"HGNC:20152"	"ZFHX2"	"MONDO:0007828"	"indifference to pain, congenital, autosomal dominant"	"OMIM:147430"	"?Marsili syndrome"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:20152"	"ZFHX2"	"OMIM:147430"	"indifference to pain, congenital, autosomal dominant"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-02-06 15:18:59"	""	""	"29253101"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFHX20ZFHX2rel"	"2023-11-30"
"GENCC_000106-HGNC_1108-OMIM_620154-HP_0000005-GENCC_100004"	"HGNC:1108"	"ZFP36L2"	"MONDO:0859330"	"oocyte maturation defect 13"	"OMIM:620154"	"Oocyte/zygote/embryo maturation arrest 13"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:1108"	"ZFP36L2"	"OMIM:620154"	"Oocyte/zygote/embryo maturation arrest 13"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-05-25 15:59:31"	""	""	"34611029, 29408237, 15342461"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFP36L20EEA"	"2023-11-30"
"GENCC_000106-HGNC_16700-OMIM_187500-HP_0000005-GENCC_100004"	"HGNC:16700"	"ZFPM2"	"MONDO:0008542"	"tetralogy of fallot"	"OMIM:187500"	"Tetralogy of Fallot"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:16700"	"ZFPM2"	"OMIM:187500"	"tetralogy of fallot"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-06-21 09:24:44"	""	""	"10888889, 10892744, 16103912, 17309641, 20807224, 21919901, 24469719, 24769157, 25025186, 25996639, 28372585, 29018978, 29332214"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFPM20CHD"	"2023-11-30"
"GENCC_000106-HGNC_16700-OMIM_616067-HP_0000006-GENCC_100002"	"HGNC:16700"	"ZFPM2"	"MONDO:0014480"	"46,XY sex reversal 9"	"OMIM:616067"	"46XY sex reversal 9"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16700"	"ZFPM2"	"OMIM:616067"	"46XY sex reversal 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2017-08-01 09:07:45"	""	""	"1334444, 17309641, 24549039, 27899157"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFPM20DSD"	"2023-11-30"
"GENCC_000106-HGNC_16700-OMIM_610187-HP_0000006-GENCC_100002"	"HGNC:16700"	"ZFPM2"	"MONDO:0012431"	"diaphragmatic hernia 3"	"OMIM:610187"	"Diaphragmatic hernia 3"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16700"	"ZFPM2"	"OMIM:610187"	"diaphragmatic hernia 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-04-09 12:05:20"	""	""	"16103912, 17309641, 24702427, 24769157, 29966037"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFPM20DiaphragHernia"	"2023-11-30"
"GENCC_000106-HGNC_20758-OMIM_619849-HP_0000007-GENCC_100002"	"HGNC:20758"	"ZFYVE19"	"MONDO:0030800"	"cholestasis, progressive familial intrahepatic, 9"	"OMIM:619849"	"Cholestasis, progressive familial intrahepatic, 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:20758"	"ZFYVE19"	"OMIM:619849"	"Cholestasis, progressive familial intrahepatic, 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-05-03 15:33:13"	""	""	"32737136"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZFYVE190ZFYVE19rel"	"2023-11-30"
"GENCC_000106-HGNC_12872-OMIM_616602-HP_0000006-GENCC_100002"	"HGNC:12872"	"ZIC1"	"MONDO:0014705"	"craniosynostosis 6"	"OMIM:616602"	"?Craniosynostosis 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12872"	"ZIC1"	"OMIM:616602"	"craniosynostosis 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2020-09-28 09:43:12"	""	""	"11756505, 21307096, 25985138, 26340333, 27884935"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZIC10Craniosyn"	"2023-11-30"
"GENCC_000106-HGNC_12872-OMIM_618736-HP_0000005-GENCC_100004"	"HGNC:12872"	"ZIC1"	"MONDO:0032892"	"structural brain anomalies with impaired intellectual development and craniosynostosis"	"OMIM:618736"	"Structural brain anomalies with impaired intellectual development and craniosynostosis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:12872"	"ZIC1"	"OMIM:618736"	"structural brain anomalies with impaired intellectual development and craniosynostosis"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-09-28 09:49:53"	""	""	"11756505, 21307096, 30391508"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZIC10ZIC1rel"	"2023-11-30"
"GENCC_000106-HGNC_12874-OMIM_306955-HP_0001417-GENCC_100002"	"HGNC:12874"	"ZIC3"	"MONDO:0010607"	"heterotaxy, visceral, 1, X-linked"	"OMIM:306955"	"Heterotaxy, visceral, 1, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"HGNC:12874"	"ZIC3"	"OMIM:306955"	"heterotaxy, visceral, 1, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-03-20 17:23:27"	""	""	"24123890"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZIC30Heterotaxy"	"2023-11-30"
"GENCC_000106-HGNC_12877-OMIM_608612-HP_0000007-GENCC_100002"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0012074"	"mandibuloacral dysplasia with type B lipodystrophy"	"OMIM:608612"	"Mandibuloacral dysplasia with type B lipodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12877"	"ZMPSTE24"	"OMIM:608612"	"mandibuloacral dysplasia with type B lipodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-06-06 22:15:39"	""	""	"16297189, 18435794, 19383993, 20550970, 21488301, 22718200, 24169522, 30548811"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZMPSTE240Mandibuloacral"	"2023-11-30"
"GENCC_000106-HGNC_12877-OMIM_275210-HP_0000007-GENCC_100002"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0800042"	"restrictive dermopathy 1"	"OMIM:275210"	"Restrictive dermopathy 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12877"	"ZMPSTE24"	"OMIM:275210"	"restrictive dermopathy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-05-23 21:03:06"	""	""	"11923874, 12235369, 16297189, 22718200, 24169522"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZMPSTE240RestrictDermo"	"2023-11-30"
"GENCC_000106-HGNC_12989-OMIM_619522-HP_0000006-GENCC_100002"	"HGNC:12989"	"ZMYM2"	"MONDO:0859190"	"neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities"	"OMIM:619522"	"Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:12989"	"ZMYM2"	"OMIM:619522"	"Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-05 17:32:56"	""	""	"22495311, 26333423, 27415155, 32891193"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZMYM20ZMYM2rel"	"2023-11-30"
"GENCC_000106-HGNC_12926-OMIM_615226-HP_0000007-GENCC_100004"	"HGNC:12926"	"ZNF141"	"MONDO:0014090"	"polydactyly, postaxial, type A6"	"OMIM:615226"	"?Polydactyly, postaxial, type A6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12926"	"ZNF141"	"OMIM:615226"	"?Polydactyly, postaxial, type A6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-12-15 10:41:54"	""	""	"23160277"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF1410?Polydac"	"2023-11-30"
"GENCC_000106-HGNC_19904-OMIM_619557-HP_0000007-GENCC_100002"	"HGNC:19904"	"ZNF407"	"MONDO:0859198"	"short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies"	"OMIM:619557"	"SIMHA syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:19904"	"ZNF407"	"OMIM:619557"	"SIMHA syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-10-20 07:41:27"	""	""	"23195952, 24907849, 25182394, 32737394"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF4070Syndromic0ID"	"2023-11-30"
"GENCC_000106-HGNC_26498-OMIM_613617-HP_0000005-GENCC_100004"	"HGNC:26498"	"ZNF513"	"MONDO:0013328"	"retinitis pigmentosa 58"	"OMIM:613617"	"?Retinitis pigmentosa 58"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:26498"	"ZNF513"	"OMIM:613617"	"?Retinitis pigmentosa 58"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-08-26 09:51:07"	""	""	"20227676, 20797688, 276064, 29320387"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF5130RP"	"2023-11-30"
"GENCC_000106-HGNC_29415-OMIM_619877-HP_0000007-GENCC_100002"	"HGNC:29415"	"ZNF526"	"MONDO:0859251"	"Dentici-Novelli neurodevelopmental syndrome"	"OMIM:619877"	"Dentici-Novelli neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29415"	"ZNF526"	"OMIM:619877"	"Dentici-Novelli neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-06-21 14:04:09"	""	""	"21937992, 25558065, 27012031, 29572226, 33397746"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF5260ZNF526rel"	"2023-11-30"
"GENCC_000106-HGNC_29222-OMIM_614167-HP_0000005-GENCC_100004"	"HGNC:29222"	"ZNF644"	"MONDO:0013604"	"myopia 21, autosomal dominant"	"OMIM:614167"	"Myopia 21, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29222"	"ZNF644"	"OMIM:614167"	"myopia 21, autosomal dominant"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 10:29:43"	""	""	"21695231, 22539872, 24991186, 25525168, 6830491"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF6440Myopia21"	"2023-11-30"
"GENCC_000106-HGNC_12760-OMIM_620438-HP_0000007-GENCC_100004"	"HGNC:12760"	"BRWD1"	"MONDO:0957396"	"ciliary dyskinesia, primary, 51"	"OMIM:620438"	"Ciliary dyskinesia, primary, 51"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:12760"	"BRWD1"	"OMIM:620438"	"Ciliary dyskinesia, primary, 51"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2023-07-03 15:13:59"	""	""	"31959991"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"BRWD10MMAF"	"2023-11-30"
"GENCC_000106-HGNC_29277-OMIM_616833-HP_0000005-GENCC_100004"	"HGNC:29277"	"ZNF687"	"MONDO:0014792"	"Paget disease of bone 6"	"OMIM:616833"	"Paget disease of bone 6"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:29277"	"ZNF687"	"OMIM:616833"	"Paget disease of bone 6"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2018-03-13 13:32:01"	""	""	"207220, 251432, 26849110, 279100, 29493781, 32106343"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF6870Paget"	"2023-11-30"
"GENCC_000106-HGNC_16639-OMIM_620439-HP_0000006-GENCC_100002"	"HGNC:16639"	"SRRM2"	"MONDO:0957397"	"intellectual developmental disorder, autosomal dominant 72"	"OMIM:620439"	"Intellectual developmental disorder, autosomal dominant 72"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:16639"	"SRRM2"	"OMIM:620439"	"Intellectual developmental disorder, autosomal dominant 72"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2023-07-03 14:58:25"	""	""	"35567594"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"SRRM20SRRM2dev"	"2023-11-30"
"GENCC_000106-HGNC_25843-OMIM_610227-HP_0000005-GENCC_100004"	"HGNC:25843"	"ZNF750"	"MONDO:0012446"	"seborrhea-like dermatitis with psoriasiform elements"	"OMIM:610227"	"?Seborrhea-like dermatitis with psoriasiform elements"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:25843"	"ZNF750"	"OMIM:610227"	"seborrhea-like dermatitis with psoriasiform elements"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2020-04-09 12:05:21"	""	""	"16751772, 18256691, 22185198"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF7500Seborrhe"	"2023-11-30"
"GENCC_000106-HGNC_13156-OMIM_300498-HP_0000005-GENCC_100004"	"HGNC:13156"	"ZNF81"	"MONDO:0010344"	"intellectual disability, X-linked 45"	"OMIM:300498"	"Intellectual developmental disorder, X-linked 45"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:13156"	"ZNF81"	"OMIM:300498"	"Intellectual developmental disorder, X-linked 45"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2019-10-01 07:37:23"	""	""	"15121780, 22634100, 23871722, 30559312"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNF810XLID"	"2023-11-30"
"GENCC_000106-HGNC_29271-OMIM_619644-HP_0000007-GENCC_100002"	"HGNC:29271"	"ZNFX1"	"MONDO:0030491"	"immunodeficiency 91 and hyperinflammation"	"OMIM:619644"	"Immunodeficiency 91 and hyperinflammation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:29271"	"ZNFX1"	"OMIM:619644"	"immunodeficiency 91 and hyperinflammation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-12-21 12:36:38"	""	""	"28135719, 28191890, 33872655, 33876776, 34708404"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZNFX10ZNFX1rel"	"2023-11-30"
"GENCC_000106-HGNC_15662-OMIM_619799-HP_0000005-GENCC_100004"	"HGNC:15662"	"ZPBP"	"MONDO:0030716"	"spermatogenic failure 66"	"OMIM:619799"	"?Spermatogenic failure 66"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"HGNC:15662"	"ZPBP"	"OMIM:619799"	"?Spermatogenic failure 66"	"HP:0000005"	"Unknown"	"GENCC:000106"	"Invitae"	"GENCC:100004"	"Limited"	"2022-04-19 08:45:14"	""	""	"17664285, 21911476, 31412890, 31985809"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZPBP0ZPBPrel"	"2023-11-30"
"GENCC_000106-HGNC_29316-OMIM_603671-HP_0000006-GENCC_100002"	"HGNC:29316"	"ZSWIM6"	"MONDO:0011359"	"acromelic frontonasal dysostosis"	"OMIM:603671"	"Acromelic frontonasal dysostosis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29316"	"ZSWIM6"	"OMIM:603671"	"acromelic frontonasal dysostosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2018-12-14 12:25:52"	""	""	"25105228, 26706854"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZSWIM60Frontonasal"	"2023-11-30"
"GENCC_000106-HGNC_29316-OMIM_617865-HP_0000006-GENCC_100002"	"HGNC:29316"	"ZSWIM6"	"MONDO:0060642"	"neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features"	"OMIM:617865"	"Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"HGNC:29316"	"ZSWIM6"	"OMIM:617865"	"Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features"	"HP:0000006"	"Autosomal dominant"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2021-08-17 14:19:43"	""	""	"28433741, 29198722"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZSWIM60ID"	"2023-11-30"
"GENCC_000106-HGNC_26993-OMIM_619834-HP_0000007-GENCC_100002"	"HGNC:26993"	"ZSWIM7"	"MONDO:0030736"	"ovarian dysgenesis 10"	"OMIM:619834"	"?Ovarian dysgenesis 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"HGNC:26993"	"ZSWIM7"	"OMIM:619834"	"?Ovarian dysgenesis 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000106"	"Invitae"	"GENCC:100002"	"Strong"	"2022-10-07 07:28:52"	""	""	"30305635, 34402903, 35218660"	"https://view.publitas.com/invitae/invitaeposter_nsgc2019_curatingthehumangenome/page/1"	"ZSWIM70POI"	"2023-11-30"
"GENCC_000101-HGNC_68-OMIM_614857-HP_0000007-GENCC_100003"	"HGNC:68"	"ABCD4"	"MONDO:0013925"	"methylmalonic acidemia with homocystinuria, type cblJ"	"OMIM:614857"	"Methylmalonic aciduria and homocystinuria, cblJ type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:68"	"ABCD4"	"OMIM:614857"	"Methylmalonic aciduria and homocystinuria, cblJ type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-19 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65649"	"2024-01-02"
"GENCC_000101-HGNC_145-OMIM_155310-HP_0000007-GENCC_100004"	"HGNC:145"	"ACTG2"	"MONDO:0020754"	"visceral myopathy 1"	"OMIM:155310"	"Visceral myopathy 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:145"	"ACTG2"	"OMIM:155310"	"Visceral myopathy 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-11 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42845"	"2024-01-02"
"GENCC_000101-HGNC_427-OMIM_613014-HP_0000006-GENCC_100002"	"HGNC:427"	"ALK"	"MONDO:0013083"	"neuroblastoma, susceptibility to, 3"	"OMIM:613014"	"{Neuroblastoma, susceptibility to, 3}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:427"	"ALK"	"OMIM:613014"	"Neuroblastoma, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-09-18 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92553"	"2024-01-02"
"GENCC_000101-HGNC_637-OMIM_620448-HP_0000007-GENCC_100004"	"HGNC:637"	"AQP4"	"MONDO:0957534"	"megalencephalic leukoencephalopathy with subcortical cysts 4, remitting"	"OMIM:620448"	"?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:637"	"AQP4"	"OMIM:620448"	"Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-08 23:10:55"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42848"	"2024-01-02"
"GENCC_000101-HGNC_32925-OMIM_608768-HP_0000006-GENCC_100003"	"HGNC:32925"	"ATXN8"	"MONDO:0012116"	"spinocerebellar ataxia type 8"	"OMIM:608768"	"Spinocerebellar ataxia 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32925"	"ATXN8"	"OMIM:608768"	"Spinocerebellar ataxia 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-27 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"3615"	"2024-01-02"
"GENCC_000101-HGNC_10561-OMIM_608768-HP_0000006-GENCC_100003"	"HGNC:10561"	"ATXN8OS"	"MONDO:0012116"	"spinocerebellar ataxia type 8"	"OMIM:608768"	"Spinocerebellar ataxia 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10561"	"ATXN8OS"	"OMIM:608768"	"Spinocerebellar ataxia 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-26 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"3642"	"2024-01-02"
"GENCC_000101-HGNC_21701-OMIM_614498-HP_0000007-GENCC_100001"	"HGNC:21701"	"BRAT1"	"MONDO:0013784"	"neonatal-onset encephalopathy with rigidity and seizures"	"OMIM:614498"	"Rigidity and multifocal seizure syndrome, lethal neonatal"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21701"	"BRAT1"	"OMIM:614498"	"Rigidity and multifocal seizure syndrome, lethal neonatal"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-25 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67134"	"2024-01-02"
"GENCC_000101-HGNC_21701-OMIM_618056-HP_0000007-GENCC_100001"	"HGNC:21701"	"BRAT1"	"MONDO:0020841"	"neurodevelopmental disorder with cerebellar atrophy and with or without seizures"	"OMIM:618056"	"Neurodevelopmental disorder with cerebellar atrophy and with or without seizures"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21701"	"BRAT1"	"OMIM:618056"	"Neurodevelopmental disorder with cerebellar atrophy and with or without seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-25 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18686"	"2024-01-02"
"GENCC_000101-HGNC_25443-OMIM_615043-HP_0000007-GENCC_100004"	"HGNC:25443"	"C19orf12"	"MONDO:0014024"	"hereditary spastic paraplegia 43"	"OMIM:615043"	"?Spastic paraplegia 43, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25443"	"C19orf12"	"OMIM:615043"	"Spastic paraplegia 43, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-11 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"04392"	"2024-01-02"
"GENCC_000101-HGNC_25443-OMIM_614298-HP_0000006-GENCC_100003"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"OMIM:614298"	"Neurodegeneration with brain iron accumulation 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25443"	"C19orf12"	"OMIM:614298"	"Neurodegeneration with brain iron accumulation 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-11 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42867"	"2024-01-02"
"GENCC_000101-HGNC_24338-OMIM_301110-HP_0001417-GENCC_100004"	"HGNC:24338"	"C1GALT1C1"	"MONDO:0957495"	"hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature"	"OMIM:301110"	"Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24338"	"C1GALT1C1"	"OMIM:301110"	"Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-28 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13363"	"2024-01-02"
"GENCC_000101-HGNC_1358-OMIM_613825-HP_0000007-GENCC_100003"	"HGNC:1358"	"C9"	"MONDO:0013445"	"complement component 9 deficiency"	"OMIM:613825"	"C9 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1358"	"C9"	"OMIM:613825"	"C9 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-15 23:10:56"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"321"	"2024-01-02"
"GENCC_000101-HGNC_1542-OMIM_620430-HP_0000007-GENCC_100004"	"HGNC:1542"	"CBLB"	"MONDO:0957388"	"autoimmune disease, multisystem, infantile-onset, 3"	"OMIM:620430"	"Autoimmune disease, multisystem, infantile-onset, 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1542"	"CBLB"	"OMIM:620430"	"Autoimmune disease, multisystem, infantile-onset, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-09 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42849"	"2024-01-02"
"GENCC_000101-HGNC_26708-OMIM_301059-HP_0001417-GENCC_100004"	"HGNC:26708"	"CFAP47"	"MONDO:0025354"	"spermatogenic failure, X-linked, 3"	"OMIM:301059"	"Spermatogenic failure, X-linked 3"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26708"	"CFAP47"	"OMIM:301059"	"Spermatogenic failure, X-linked 3"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-18 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42604"	"2024-01-02"
"GENCC_000101-HGNC_1037-OMIM_612924-HP_0000006-GENCC_100004"	"HGNC:1037"	"CFB"	"MONDO:0013042"	"atypical hemolytic-uremic syndrome with B factor anomaly"	"OMIM:612924"	"{Hemolytic uremic syndrome, atypical, susceptibility to, 4}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1037"	"CFB"	"OMIM:612924"	"Hemolytic uremic syndrome, atypical, susceptibility to, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-09-29 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"82162"	"2024-01-02"
"GENCC_000101-HGNC_105-OMIM_217080-HP_0000007-GENCC_100001"	"HGNC:105"	"CNNM4"	"MONDO:0009007"	"Jalili syndrome"	"OMIM:217080"	"Jalili syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:105"	"CNNM4"	"OMIM:217080"	"Jalili syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-03 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61475"	"2024-01-02"
"GENCC_000101-HGNC_2202-OMIM_618564-HP_0000006-GENCC_100003"	"HGNC:2202"	"COL4A1"	"MONDO:0032814"	"microangiopathy and leukoencephalopathy, pontine, autosomal dominant"	"OMIM:618564"	"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2202"	"COL4A1"	"OMIM:618564"	"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-10 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42844"	"2024-01-02"
"GENCC_000101-HGNC_2214-MONDO_0009179-HP_0000007-GENCC_100001"	"HGNC:2214"	"COL7A1"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2214"	"COL7A1"	"MONDO:0009179"	"Epidermolysis bullosa dystrophica, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-05 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"88923"	"2024-01-02"
"GENCC_000101-HGNC_2410-OMIM_604307-HP_0000006-GENCC_100002"	"HGNC:2410"	"CRYGC"	"MONDO:0100436"	"cataract 2, multiple types"	"OMIM:604307"	"Cataract 2, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2410"	"CRYGC"	"OMIM:604307"	"Cataract 2, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-07-28 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"8158"	"2024-01-02"
"GENCC_000101-HGNC_2417-OMIM_116100-HP_0000006-GENCC_100002"	"HGNC:2417"	"CRYGS"	"MONDO:0007284"	"cataract 20 multiple types"	"OMIM:116100"	"Cataract 20, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2417"	"CRYGS"	"OMIM:116100"	"Cataract 20, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-06-29 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78776"	"2024-01-02"
"GENCC_000101-HGNC_2652-OMIM_613812-HP_0000007-GENCC_100002"	"HGNC:2652"	"CYP7B1"	"MONDO:0013439"	"congenital bile acid synthesis defect 3"	"OMIM:613812"	"Bile acid synthesis defect, congenital, 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2652"	"CYP7B1"	"OMIM:613812"	"Bile acid synthesis defect, congenital, 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-06-23 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42827"	"2024-01-02"
"GENCC_000101-HGNC_17210-OMIM_273250-HP_0000006-GENCC_100002"	"HGNC:17210"	"DHX37"	"MONDO:8000015"	"46,XY sex reversal 11"	"OMIM:273250"	"46XY sex reversal 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17210"	"DHX37"	"OMIM:273250"	"46XY sex reversal 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-07-26 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42801"	"2024-01-02"
"GENCC_000101-HGNC_17211-OMIM_618220-HP_0000007-GENCC_100004"	"HGNC:17211"	"DHX38"	"MONDO:0032604"	"retinitis pigmentosa 84"	"OMIM:618220"	"Retinitis pigmentosa 84"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17211"	"DHX38"	"OMIM:618220"	"Retinitis pigmentosa 84"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-20 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42603"	"2024-01-02"
"GENCC_000101-HGNC_2941-OMIM_619515-HP_0000007-GENCC_100004"	"HGNC:2941"	"DNAH10"	"MONDO:0030430"	"spermatogenic failure 56"	"OMIM:619515"	"Spermatogenic failure 56"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2941"	"DNAH10"	"OMIM:619515"	"Spermatogenic failure 56"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-04 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42873"	"2024-01-02"
"GENCC_000101-HGNC_2948-OMIM_619094-HP_0000007-GENCC_100003"	"HGNC:2948"	"DNAH2"	"MONDO:0033671"	"spermatogenic failure 45"	"OMIM:619094"	"Spermatogenic failure 45"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2948"	"DNAH2"	"OMIM:619094"	"Spermatogenic failure 45"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-10 23:10:57"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42840"	"2024-01-02"
"GENCC_000101-HGNC_16410-OMIM_619382-HP_0000007-GENCC_100004"	"HGNC:16410"	"DNAJC30"	"MONDO:0030309"	"Leber hereditary optic neuropathy, autosomal recessive"	"OMIM:619382"	"Leber-like hereditary optic neuropathy, autosomal recessive 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16410"	"DNAJC30"	"OMIM:619382"	"Leber hereditary optic neuropathy, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-26 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42675"	"2024-01-02"
"GENCC_000101-HGNC_23483-OMIM_301109-HP_0001417-GENCC_100004"	"HGNC:23483"	"DOCK11"	"MONDO:0957494"	"autoinflammatory disease, multisystem, with immune dysregulation, X-linked"	"OMIM:301109"	"Autoinflammatory disease, multisystem, with immune dysregulation, X-linked"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23483"	"DOCK11"	"OMIM:301109"	"Autoinflammatory disease, multisystem, with immune dysregulation, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-09-11 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42686"	"2024-01-02"
"GENCC_000101-HGNC_2988-OMIM_616433-HP_0000007-GENCC_100001"	"HGNC:2988"	"DOCK2"	"MONDO:0014637"	"DOCK2 deficiency"	"OMIM:616433"	"Immunodeficiency 40"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2988"	"DOCK2"	"OMIM:616433"	"Immunodeficiency 40"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-09-20 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42698"	"2024-01-02"
"GENCC_000101-HGNC_3049-OMIM_610193-HP_0000007-GENCC_100003"	"HGNC:3049"	"DSG2"	"MONDO:0012434"	"arrhythmogenic right ventricular dysplasia 10"	"OMIM:610193"	"Arrhythmogenic right ventricular dysplasia 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3049"	"DSG2"	"OMIM:610193"	"Arrhythmogenic right ventricular dysplasia 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-14 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42665"	"2024-01-02"
"GENCC_000101-HGNC_26551-OMIM_617610-HP_0000007-GENCC_100003"	"HGNC:26551"	"DZIP1L"	"MONDO:0033281"	"polycystic kidney disease 5"	"OMIM:617610"	"Polycystic kidney disease 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26551"	"DZIP1L"	"OMIM:617610"	"Polycystic kidney disease 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-22 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11236"	"2024-01-02"
"GENCC_000101-HGNC_3284-OMIM_620455-HP_0000007-GENCC_100004"	"HGNC:3284"	"EIF4A2"	"MONDO:0957541"	"neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"OMIM:620455"	"Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3284"	"EIF4A2"	"OMIM:620455"	"Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-12 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17179"	"2024-01-02"
"GENCC_000101-HGNC_3284-OMIM_620455-HP_0000006-GENCC_100002"	"HGNC:3284"	"EIF4A2"	"MONDO:0957541"	"neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"OMIM:620455"	"Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3284"	"EIF4A2"	"OMIM:620455"	"Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-07-12 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42892"	"2024-01-02"
"GENCC_000101-HGNC_3300-OMIM_619376-HP_0000006-GENCC_100003"	"HGNC:3300"	"EIF5A"	"MONDO:0859163"	"Faundes-Banka syndrome"	"OMIM:619376"	"Faundes-Banka syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3300"	"EIF5A"	"OMIM:619376"	"Faundes-Banka syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-18 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14577"	"2024-01-02"
"GENCC_000101-HGNC_3374-OMIM_611783-HP_0000006-GENCC_100004"	"HGNC:3374"	"EPAS1"	"MONDO:0012729"	"erythrocytosis, familial, 4"	"OMIM:611783"	"Erythrocytosis, familial, 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3374"	"EPAS1"	"OMIM:611783"	"Erythrocytosis, familial, 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-19 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6685"	"2024-01-02"
"GENCC_000101-HGNC_17097-OMIM_617763-HP_0000007-GENCC_100004"	"HGNC:17097"	"EXOSC2"	"MONDO:0044634"	"retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"	"OMIM:617763"	"Short stature, hearing loss, retinitis pigmentosa, and distinctive facies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17097"	"EXOSC2"	"OMIM:617763"	"Short stature, hearing loss, retinitis pigmentosa, and distinctive facies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-12 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73701"	"2024-01-02"
"GENCC_000101-HGNC_3534-OMIM_613235-HP_0000007-GENCC_100003"	"HGNC:3534"	"F13B"	"MONDO:0013190"	"factor XIII, b subunit, deficiency of"	"OMIM:613235"	"Factor XIIIB deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3534"	"F13B"	"OMIM:613235"	"Factor XIIIB deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-01 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63398"	"2024-01-02"
"GENCC_000101-HGNC_11920-OMIM_601859-HP_0000007-GENCC_100003"	"HGNC:11920"	"FAS"	"MONDO:0011158"	"autoimmune lymphoproliferative syndrome type 1"	"OMIM:601859"	"{Autoimmune lymphoproliferative syndrome}"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11920"	"FAS"	"OMIM:601859"	"Autoimmune lymphoproliferative syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-28 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42836"	"2024-01-02"
"GENCC_000101-HGNC_3604-OMIM_616118-HP_0000006-GENCC_100004"	"HGNC:3604"	"FBN2"	"MONDO:0014501"	"macular degeneration, early-onset"	"OMIM:616118"	"Macular degeneration, early-onset"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3604"	"FBN2"	"OMIM:616118"	"Macular degeneration, early-onset"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-19 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42893"	"2024-01-02"
"GENCC_000101-HGNC_29046-OMIM_619777-HP_0000006-GENCC_100002"	"HGNC:29046"	"FBXO28"	"MONDO:0030695"	"developmental and epileptic encephalopathy 100"	"OMIM:619777"	"Developmental and epileptic encephalopathy 100"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29046"	"FBXO28"	"OMIM:619777"	"Developmental and epileptic encephalopathy 100"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-09-18 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"89989"	"2024-01-02"
"GENCC_000101-HGNC_3670-OMIM_301058-HP_0001417-GENCC_100003"	"HGNC:3670"	"FGF13"	"MONDO:0025353"	"developmental and epileptic encephalopathy, 90"	"OMIM:301058"	"Developmental and epileptic encephalopathy 90"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3670"	"FGF13"	"OMIM:301058"	"Developmental and epileptic encephalopathy 90"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-29 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15282"	"2024-01-02"
"GENCC_000101-HGNC_26178-OMIM_619402-HP_0000006-GENCC_100002"	"HGNC:26178"	"FHOD3"	"MONDO:0030317"	"cardiomyopathy, familial hypertrophic, 28"	"OMIM:619402"	"Cardiomyopathy, familial hypertrophic, 28"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26178"	"FHOD3"	"OMIM:619402"	"Cardiomyopathy, familial hypertrophic, 28"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-10-24 23:10:58"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"89701"	"2024-01-02"
"GENCC_000101-HGNC_12765-OMIM_618806-HP_0000006-GENCC_100003"	"HGNC:12765"	"FOXN1"	"MONDO:0032928"	"T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"	"OMIM:618806"	"T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12765"	"FOXN1"	"OMIM:618806"	"T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-13 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42660"	"2024-01-02"
"GENCC_000101-HGNC_4217-OMIM_615506-HP_0000007-GENCC_100004"	"HGNC:4217"	"GDF2"	"MONDO:0014217"	"telangiectasia, hereditary hemorrhagic, type 5"	"OMIM:615506"	"Telangiectasia, hereditary hemorrhagic, type 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4217"	"GDF2"	"OMIM:615506"	"Telangiectasia, hereditary hemorrhagic, type 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-02 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42870"	"2024-01-02"
"GENCC_000101-HGNC_4226-OMIM_300849-HP_0001417-GENCC_100003"	"HGNC:4226"	"GDI1"	"MONDO:0010451"	"intellectual disability, X-linked 41"	"OMIM:300849"	"Intellectual developmental disorder, X-linked 41"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4226"	"GDI1"	"OMIM:300849"	"Intellectual developmental disorder, X-linked 41"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-01 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6503"	"2024-01-02"
"GENCC_000101-HGNC_4261-OMIM_262400-HP_0000007-GENCC_100001"	"HGNC:4261"	"GH1"	"MONDO:0009876"	"isolated growth hormone deficiency type IA"	"OMIM:262400"	"Growth hormone deficiency, isolated, type IA"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4261"	"GH1"	"OMIM:262400"	"Growth hormone deficiency, isolated, type IA"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-08-25 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6511"	"2024-01-02"
"GENCC_000101-HGNC_4261-OMIM_173100-HP_0000006-GENCC_100002"	"HGNC:4261"	"GH1"	"MONDO:0008250"	"isolated growth hormone deficiency type II"	"OMIM:173100"	"Growth hormone deficiency, isolated, type II"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4261"	"GH1"	"OMIM:173100"	"Growth hormone deficiency, isolated, type II"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-23 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42855"	"2024-01-02"
"GENCC_000101-HGNC_28980-OMIM_617827-HP_0000007-GENCC_100004"	"HGNC:28980"	"GINS1"	"MONDO:0044725"	"combined immunodeficiency due to GINS1 deficiency"	"OMIM:617827"	"Immunodeficiency 55"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28980"	"GINS1"	"OMIM:617827"	"Immunodeficiency 55"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-18 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42857"	"2024-01-02"
"GENCC_000101-HGNC_4331-MONDO_0600001-HP_0000007-GENCC_100003"	"HGNC:4331"	"GLS"	"MONDO:0600001"	"glutaminase deficiency"	"MONDO:0600001"	"glutaminase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4331"	"GLS"	"MONDO:0600001"	"Glutamase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-21 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11492"	"2024-01-02"
"GENCC_000101-HGNC_4331-OMIM_618339-HP_0000006-GENCC_100003"	"HGNC:4331"	"GLS"	"MONDO:0032685"	"infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"	"OMIM:618339"	"CASGID syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4331"	"GLS"	"OMIM:618339"	"Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-21 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42696"	"2024-01-02"
"GENCC_000101-HGNC_4415-OMIM_606664-HP_0000007-GENCC_100004"	"HGNC:4415"	"GNMT"	"MONDO:0011698"	"glycine N-methyltransferase deficiency"	"OMIM:606664"	"Glycine N-methyltransferase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4415"	"GNMT"	"OMIM:606664"	"Glycine N-methyltransferase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-05 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61496"	"2024-01-02"
"GENCC_000101-HGNC_13308-OMIM_620447-HP_0000006-GENCC_100004"	"HGNC:13308"	"GPRC5B"	"MONDO:0957533"	"megalencephalic leukoencephalopathy with subcortical cysts 3"	"OMIM:620447"	"Megalencephalic leukoencephalopathy with subcortical cysts 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13308"	"GPRC5B"	"OMIM:620447"	"Megalencephalic leukoencephalopathy with subcortical cysts 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-08 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42846"	"2024-01-02"
"GENCC_000101-HGNC_25839-OMIM_606713-HP_0000006-GENCC_100002"	"HGNC:25839"	"GRHL3"	"MONDO:0011712"	"van der Woude syndrome 2"	"OMIM:606713"	"van der Woude syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25839"	"GRHL3"	"OMIM:606713"	"van der Woude syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-10-19 23:10:59"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"80047"	"2024-01-02"
"GENCC_000101-HGNC_5033-OMIM_615422-HP_0000006-GENCC_100004"	"HGNC:5033"	"HNRNPA2B1"	"MONDO:0014178"	"inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2"	"OMIM:615422"	"?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5033"	"HNRNPA2B1"	"OMIM:615422"	"Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-09-18 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78139"	"2024-01-02"
"GENCC_000101-HGNC_5133-OMIM_192950-HP_0000006-GENCC_100004"	"HGNC:5133"	"HOXD10"	"MONDO:0008652"	"congenital vertical talus"	"OMIM:192950"	"Charcot-Marie-Tooth disease, foot deformity of"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5133"	"HOXD10"	"OMIM:192950"	"Charcot-Marie-Tooth disease, foot deformity of"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-18 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63081"	"2024-01-02"
"GENCC_000101-HGNC_28949-OMIM_609254-HP_0000007-GENCC_100001"	"HGNC:28949"	"IQCB1"	"MONDO:0012225"	"Senior-Loken syndrome 5"	"OMIM:609254"	"Senior-Loken syndrome 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28949"	"IQCB1"	"OMIM:609254"	"Senior-Loken syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-07-24 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64815"	"2024-01-02"
"GENCC_000101-HGNC_21729-OMIM_617765-HP_0000006-GENCC_100004"	"HGNC:21729"	"IRF2BP2"	"MONDO:0054691"	"immunodeficiency, common variable, 14"	"OMIM:617765"	"?Immunodeficiency, common variable, 14"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21729"	"IRF2BP2"	"OMIM:617765"	"Immunodeficiency, common variable, 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-16 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"12350"	"2024-01-02"
"GENCC_000101-HGNC_6233-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:6233"	"KCNC1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6233"	"KCNC1"	"MONDO:0100038"	"Complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-07-14 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14638"	"2024-01-02"
"GENCC_000101-HGNC_29347-OMIM_300982-HP_0000006-GENCC_100004"	"HGNC:29347"	"KLHL15"	"MONDO:0010508"	"intellectual disability, X-linked 103"	"OMIM:300982"	"Intellectual developmental disorder, X-linked 103"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29347"	"KLHL15"	"OMIM:300982"	"Intellectual developmental disorder, X-linked 103"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-16 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"12146"	"2024-01-02"
"GENCC_000101-HGNC_25947-OMIM_620236-HP_0000007-GENCC_100004"	"HGNC:25947"	"KLHL24"	"MONDO:0859372"	"cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies"	"OMIM:620236"	"Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25947"	"KLHL24"	"OMIM:620236"	"Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-22 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42829"	"2024-01-02"
"GENCC_000101-HGNC_37216-OMIM_617668-HP_0000007-GENCC_100004"	"HGNC:37216"	"LIPT2"	"MONDO:0060562"	"encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"	"OMIM:617668"	"Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:37216"	"LIPT2"	"OMIM:617668"	"Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-30 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11865"	"2024-01-02"
"GENCC_000101-HGNC_6735-OMIM_620376-HP_0000006-GENCC_100003"	"HGNC:6735"	"LYN"	"MONDO:0957271"	"autoinflammatory disease, systemic, with vasculitis"	"OMIM:620376"	"Autoinflammatory disease, systemic, with vasculitis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6735"	"LYN"	"OMIM:620376"	"Autoinflammatory disease, systemic, with vasculitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-28 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42872"	"2024-01-02"
"GENCC_000101-HGNC_6408-OMIM_617041-HP_0000006-GENCC_100003"	"HGNC:6408"	"MAFB"	"MONDO:0014880"	"Duane retraction syndrome 3 with or without deafness"	"OMIM:617041"	"Duane retraction syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6408"	"MAFB"	"OMIM:617041"	"Duane retraction syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-10-25 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42674"	"2024-01-02"
"GENCC_000101-HGNC_6848-OMIM_613762-HP_0000006-GENCC_100002"	"HGNC:6848"	"MAP3K1"	"MONDO:0013410"	"46,XY sex reversal 6"	"OMIM:613762"	"46XY sex reversal 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6848"	"MAP3K1"	"OMIM:613762"	"46XY sex reversal 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-10-25 23:11:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"0825"	"2024-01-02"
"GENCC_000101-HGNC_32687-OMIM_620327-HP_0000007-GENCC_100004"	"HGNC:32687"	"MED11"	"MONDO:0957225"	"neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities"	"OMIM:620327"	"Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:32687"	"MED11"	"OMIM:620327"	"Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-30 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42865"	"2025-01-17"
"GENCC_000101-HGNC_7060-OMIM_245150-HP_0000007-GENCC_100002"	"HGNC:7060"	"MGP"	"MONDO:0009495"	"Keutel syndrome"	"OMIM:245150"	"Keutel syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7060"	"MGP"	"OMIM:245150"	"Keutel syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-09-19 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65362"	"2024-01-02"
"GENCC_000101-HGNC_7103-OMIM_615274-HP_0000006-GENCC_100002"	"HGNC:7103"	"MIP"	"MONDO:0014110"	"cataract 15 multiple types"	"OMIM:615274"	"Cataract 15, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7103"	"MIP"	"OMIM:615274"	"Cataract 15, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-09-19 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78559"	"2024-01-02"
"GENCC_000101-HGNC_7549-OMIM_614915-HP_0000007-GENCC_100004"	"HGNC:7549"	"MYBPC1"	"MONDO:0013965"	"lethal congenital contracture syndrome 4"	"OMIM:614915"	"Lethal congenital contracture syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7549"	"MYBPC1"	"OMIM:614915"	"Lethal congenital contracture syndrome 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-21 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65588"	"2024-01-02"
"GENCC_000101-HGNC_7549-OMIM_614335-HP_0000006-GENCC_100003"	"HGNC:7549"	"MYBPC1"	"MONDO:0013698"	"arthrogryposis, distal, type 1B"	"OMIM:614335"	"Arthrogryposis, distal, type 1B"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7549"	"MYBPC1"	"OMIM:614335"	"Arthrogryposis, distal, type 1B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-21 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65586"	"2024-01-02"
"GENCC_000101-HGNC_16243-OMIM_192600-HP_0000006-GENCC_100004"	"HGNC:16243"	"MYLK2"	"MONDO:0008647"	"hypertrophic cardiomyopathy 1"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1, digenic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16243"	"MYLK2"	"OMIM:192600"	"Cardiomyopathy, hypertrophic, 1, digenic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-25 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"0769"	"2024-01-02"
"GENCC_000101-HGNC_621-OMIM_620210-HP_0000007-GENCC_100004"	"HGNC:621"	"NAE1"	"MONDO:0859361"	"neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia"	"OMIM:620210"	"Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:621"	"NAE1"	"OMIM:620210"	"Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-13 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42896"	"2024-01-02"
"GENCC_000101-HGNC_7728-OMIM_617201-HP_0000006-GENCC_100002"	"HGNC:7728"	"NEDD4L"	"MONDO:0014966"	"periventricular nodular heterotopia 7"	"OMIM:617201"	"Periventricular nodular heterotopia 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7728"	"NEDD4L"	"OMIM:617201"	"Periventricular nodular heterotopia 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-22 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17790"	"2024-01-02"
"GENCC_000101-HGNC_13394-OMIM_600995-HP_0000006-GENCC_100004"	"HGNC:13394"	"NPHS2"	"MONDO:0010974"	"nephrotic syndrome, type 2"	"OMIM:600995"	"Nephrotic syndrome, type 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13394"	"NPHS2"	"OMIM:600995"	"Nephrotic syndrome, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-10 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42881"	"2024-01-02"
"GENCC_000101-HGNC_7975-OMIM_615722-HP_0000006-GENCC_100001"	"HGNC:7975"	"NR2F1"	"MONDO:0014320"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"OMIM:615722"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7975"	"NR2F1"	"OMIM:615722"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-11 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78181"	"2024-01-02"
"GENCC_000101-HGNC_8016-OMIM_619340-HP_0000006-GENCC_100004"	"HGNC:8016"	"NSF"	"MONDO:0023659"	"developmental and epileptic encephalopathy 96"	"OMIM:619340"	"Developmental and epileptic encephalopathy 96"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8016"	"NSF"	"OMIM:619340"	"Developmental and epileptic encephalopathy 96"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-20 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15578"	"2024-01-02"
"GENCC_000101-HGNC_8028-OMIM_616415-HP_0000007-GENCC_100001"	"HGNC:8028"	"NTHL1"	"MONDO:0014630"	"familial adenomatous polyposis 3"	"OMIM:616415"	"Familial adenomatous polyposis 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8028"	"NTHL1"	"OMIM:616415"	"Familial adenomatous polyposis 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-09-28 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71006"	"2024-01-02"
"GENCC_000101-HGNC_17359-OMIM_620427-HP_0000007-GENCC_100004"	"HGNC:17359"	"NUP54"	"MONDO:0957385"	"dystonia 37, early-onset, with striatal lesions"	"OMIM:620427"	"Dystonia 37, early-onset, with striatal lesions"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17359"	"NUP54"	"OMIM:620427"	"Dystonia 37, early-onset, with striatal lesions"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-10 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42866"	"2024-01-02"
"GENCC_000101-HGNC_17068-OMIM_606856-HP_0000006-GENCC_100004"	"HGNC:17068"	"PALLD"	"MONDO:0011739"	"pancreatic cancer, susceptibility to, 1"	"OMIM:606856"	"{Pancreatic cancer, susceptibility to, 1}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17068"	"PALLD"	"OMIM:606856"	"Pancreatic cancer, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-09-28 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"83523"	"2024-01-02"
"GENCC_000101-HGNC_8794-OMIM_609161-HP_0000006-GENCC_100002"	"HGNC:8794"	"PDE8B"	"MONDO:0012205"	"autosomal dominant striatal neurodegeneration type 1"	"OMIM:609161"	"Striatal degeneration, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8794"	"PDE8B"	"OMIM:609161"	"Striatal degeneration, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-15 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64919"	"2024-01-02"
"GENCC_000101-HGNC_8978-OMIM_619802-HP_0000007-GENCC_100003"	"HGNC:8978"	"PIK3CG"	"MONDO:0030717"	"immunodeficiency 97 with autoinflammation"	"OMIM:619802"	"Immunodeficiency 97 with autoinflammation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8978"	"PIK3CG"	"OMIM:619802"	"Immunodeficiency 97 with autoinflammation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-11 23:11:01"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42852"	"2024-01-02"
"GENCC_000101-HGNC_8996-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:8996"	"PIP5K1C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8996"	"PIP5K1C"	"MONDO:0100038"	"Complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-29 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42837"	"2024-01-02"
"GENCC_000101-HGNC_9091-OMIM_300910-HP_0001417-GENCC_100001"	"HGNC:9091"	"PLS3"	"MONDO:0018315"	"X-linked osteoporosis with fractures"	"OMIM:300910"	"Bone mineral density QTL18, osteoporosis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9091"	"PLS3"	"OMIM:300910"	"Bone mineral density QTL18, osteoporosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-19 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76840"	"2024-01-02"
"GENCC_000101-HGNC_9200-OMIM_619743-HP_0000007-GENCC_100004"	"HGNC:9200"	"POLRMT"	"MONDO:0859228"	"combined oxidative phosphorylation deficiency 55"	"OMIM:619743"	"Combined oxidative phosphorylation deficiency 55"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9200"	"POLRMT"	"OMIM:619743"	"Combined oxidative phosphorylation deficiency 55"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-11 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42861"	"2024-01-02"
"GENCC_000101-HGNC_9200-OMIM_619743-HP_0000006-GENCC_100004"	"HGNC:9200"	"POLRMT"	"MONDO:0859228"	"combined oxidative phosphorylation deficiency 55"	"OMIM:619743"	"Combined oxidative phosphorylation deficiency 55"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9200"	"POLRMT"	"OMIM:619743"	"Combined oxidative phosphorylation deficiency 55"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-11 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42864"	"2024-01-02"
"GENCC_000101-HGNC_17284-OMIM_620368-HP_0000007-GENCC_100004"	"HGNC:17284"	"POT1"	"MONDO:0957264"	"cerebroretinal microangiopathy with calcifications and cysts 3"	"OMIM:620368"	"?Cerebroretinal microangiopathy with calcifications and cysts 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17284"	"POT1"	"OMIM:620368"	"Cerebroretinal microangiopathy with calcifications and cysts 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-07 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"16316"	"2024-01-02"
"GENCC_000101-HGNC_13995-OMIM_620459-HP_0000006-GENCC_100004"	"HGNC:13995"	"PRDM10"	"MONDO:0800455"	"Birt-Hogg-Dube syndrome 2"	"OMIM:620459"	"?Birt-Hogg-Dube syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13995"	"PRDM10"	"OMIM:620459"	"Birt-Hogg-Dube syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-11 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42858"	"2024-01-02"
"GENCC_000101-HGNC_9549-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:9549"	"PSMC3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9549"	"PSMC3"	"MONDO:0100038"	"Complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-06-27 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42823"	"2024-01-02"
"GENCC_000101-HGNC_9549-OMIM_619354-HP_0000007-GENCC_100004"	"HGNC:9549"	"PSMC3"	"MONDO:0859159"	"deafness, cataract, impaired intellectual development, and polyneuropathy"	"OMIM:619354"	"?Deafness, cataract, impaired intellectual development, and polyneuropathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9549"	"PSMC3"	"OMIM:619354"	"Deafness, cataract, impaired intellectual development, and polyneuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-27 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42882"	"2024-01-02"
"GENCC_000101-HGNC_24717-OMIM_619057-HP_0000007-GENCC_100003"	"HGNC:24717"	"PTCD3"	"MONDO:0033631"	"combined oxidative phosphorylation deficiency 51"	"OMIM:619057"	"Combined oxidative phosphorylation deficiency 51"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24717"	"PTCD3"	"OMIM:619057"	"Combined oxidative phosphorylation deficiency 51"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-02 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15461"	"2024-01-02"
"GENCC_000101-HGNC_9802-OMIM_618987-HP_0000007-GENCC_100004"	"HGNC:9802"	"RAC2"	"MONDO:0033555"	"immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"	"OMIM:618987"	"?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9802"	"RAC2"	"OMIM:618987"	"Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-14 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42897"	"2024-01-02"
"GENCC_000101-HGNC_9802-OMIM_608203-HP_0000006-GENCC_100003"	"HGNC:9802"	"RAC2"	"MONDO:0011988"	"neutrophil immunodeficiency syndrome"	"OMIM:608203"	"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9802"	"RAC2"	"OMIM:608203"	"Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-07-14 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42891"	"2024-01-02"
"GENCC_000101-HGNC_9802-OMIM_618986-HP_0000006-GENCC_100001"	"HGNC:9802"	"RAC2"	"MONDO:0033554"	"immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"	"OMIM:618986"	"Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9802"	"RAC2"	"OMIM:618986"	"Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-07-17 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42894"	"2024-01-02"
"GENCC_000101-HGNC_9891-OMIM_606744-HP_0000007-GENCC_100003"	"HGNC:9891"	"RBBP8"	"MONDO:0011715"	"Seckel syndrome 2"	"OMIM:606744"	"Seckel syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9891"	"RBBP8"	"OMIM:606744"	"Seckel syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-10-18 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"7471"	"2024-01-02"
"GENCC_000101-HGNC_18666-OMIM_618160-HP_0000007-GENCC_100003"	"HGNC:18666"	"RNPC3"	"MONDO:0032569"	"isolated growth hormone deficiency, type 5"	"OMIM:618160"	"Pituitary hormone deficiency, combined or isolated, 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18666"	"RNPC3"	"OMIM:618160"	"Pituitary hormone deficiency, combined or isolated, 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-31 23:11:02"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42626"	"2024-01-02"
"GENCC_000101-HGNC_10249-OMIM_620305-HP_0000007-GENCC_100001"	"HGNC:10249"	"ROBO1"	"MONDO:0957210"	"neurooculorenal syndrome"	"OMIM:620305"	"Neurooculorenal syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10249"	"ROBO1"	"OMIM:620305"	"Neurooculorenal syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-07-31 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42876"	"2024-01-02"
"GENCC_000101-HGNC_10249-OMIM_620303-HP_0000006-GENCC_100004"	"HGNC:10249"	"ROBO1"	"MONDO:0957208"	"pituitary hormone deficiency, combined or isolated, 8"	"OMIM:620303"	"Pituitary hormone deficiency, combined or isolated, 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10249"	"ROBO1"	"OMIM:620303"	"Pituitary hormone deficiency, combined or isolated, 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-31 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42879"	"2024-01-02"
"GENCC_000101-HGNC_10351-OMIM_619371-HP_0000007-GENCC_100003"	"HGNC:10351"	"RPL3L"	"MONDO:0030300"	"cardiomyopathy, dilated, 2D"	"OMIM:619371"	"Cardiomyopathy, dilated, 2D"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10351"	"RPL3L"	"OMIM:619371"	"Cardiomyopathy, dilated, 2D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14892"	"2025-01-17"
"GENCC_000101-HGNC_10981-OMIM_618464-HP_0000006-GENCC_100004"	"HGNC:10981"	"SLC25A11"	"MONDO:0032767"	"paragangliomas 6"	"OMIM:618464"	"Pheochromocytoma/paraganglioma syndrome 6"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10981"	"SLC25A11"	"OMIM:618464"	"Pheochromocytoma/paraganglioma syndrome 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-23 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11042"	"2024-01-02"
"GENCC_000101-HGNC_20662-OMIM_612289-HP_0000006-GENCC_100002"	"HGNC:20662"	"SLC25A24"	"MONDO:0012853"	"Fontaine progeroid syndrome"	"OMIM:612289"	"Fontaine progeroid syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20662"	"SLC25A24"	"OMIM:612289"	"Fontaine progeroid syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-23 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11641"	"2024-01-02"
"GENCC_000101-HGNC_11040-OMIM_274400-HP_0000007-GENCC_100002"	"HGNC:11040"	"SLC5A5"	"MONDO:0020716"	"thyroid dyshormonogenesis 1"	"OMIM:274400"	"Thyroid dyshormonogenesis 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11040"	"SLC5A5"	"OMIM:274400"	"Thyroid dyshormonogenesis 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-18 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64339"	"2024-01-02"
"GENCC_000101-HGNC_11101-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:11101"	"SMARCA5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11101"	"SMARCA5"	"MONDO:0100038"	"Complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-06-21 23:11:03"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42826"	"2024-01-02"
"GENCC_000101-HGNC_17321-OMIM_613849-HP_0000007-GENCC_100004"	"HGNC:17321"	"SP7"	"MONDO:0013460"	"osteogenesis imperfecta type 12"	"OMIM:613849"	"Osteogenesis imperfecta, type XII"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17321"	"SP7"	"OMIM:613849"	"Osteogenesis imperfecta, type XII"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-06-16 23:11:04"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42234"	"2024-01-02"
"GENCC_000101-HGNC_26293-OMIM_618751-HP_0000007-GENCC_100002"	"HGNC:26293"	"SPEF2"	"MONDO:0032898"	"spermatogenic failure 43"	"OMIM:618751"	"Spermatogenic failure 43"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26293"	"SPEF2"	"OMIM:618751"	"Spermatogenic failure 43"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-04 23:11:04"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42817"	"2024-01-02"
"GENCC_000101-HGNC_16639-OMIM_620439-HP_0000006-GENCC_100001"	"HGNC:16639"	"SRRM2"	"MONDO:0957397"	"intellectual developmental disorder, autosomal dominant 72"	"OMIM:620439"	"Intellectual developmental disorder, autosomal dominant 72"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16639"	"SRRM2"	"OMIM:620439"	"Intellectual developmental disorder, autosomal dominant 72"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-07-25 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42804"	"2024-01-02"
"GENCC_000101-HGNC_11317-OMIM_165510-HP_0000006-GENCC_100003"	"HGNC:11317"	"SSBP1"	"MONDO:0008135"	"optic atrophy 13 with retinal and foveal abnormalities"	"OMIM:165510"	"Optic atrophy 13 with retinal and foveal abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11317"	"SSBP1"	"OMIM:165510"	"Optic atrophy 13 with retinal and foveal abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-02 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11998"	"2024-01-02"
"GENCC_000101-HGNC_11365-OMIM_620443-HP_0000006-GENCC_100004"	"HGNC:11365"	"STAT4"	"MONDO:0957497"	"disabling pansclerotic morphea of childhood"	"OMIM:620443"	"Disabling pansclerotic morphea of childhood"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11365"	"STAT4"	"OMIM:620443"	"Disabling pansclerotic morphea of childhood"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-15 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42859"	"2024-01-02"
"GENCC_000101-HGNC_11386-OMIM_612783-HP_0000007-GENCC_100003"	"HGNC:11386"	"STIM1"	"MONDO:0013008"	"combined immunodeficiency due to STIM1 deficiency"	"OMIM:612783"	"Immunodeficiency 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11386"	"STIM1"	"OMIM:612783"	"Immunodeficiency 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-10-02 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78525"	"2024-01-02"
"GENCC_000101-HGNC_11386-OMIM_160565-HP_0000006-GENCC_100001"	"HGNC:11386"	"STIM1"	"MONDO:0024531"	"myopathy, tubular aggregate, 1"	"OMIM:160565"	"Myopathy, tubular aggregate, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11386"	"STIM1"	"OMIM:160565"	"Myopathy, tubular aggregate, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-03 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78523"	"2024-01-02"
"GENCC_000101-HGNC_11440-OMIM_620454-HP_0000007-GENCC_100004"	"HGNC:11440"	"STX5"	"MONDO:0957540"	"congenital disorder of glycosylation, type IIaa"	"OMIM:620454"	"?Congenital disorder of glycosylation, type IIaa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11440"	"STX5"	"OMIM:620454"	"Congenital disorder of glycosylation, type IIaa"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-30 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42628"	"2024-01-02"
"GENCC_000101-HGNC_11480-OMIM_619040-HP_0000007-GENCC_100004"	"HGNC:11480"	"SVIL"	"MONDO:0033620"	"myofibrillar myopathy 10"	"OMIM:619040"	"Myofibrillar myopathy 10"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11480"	"SVIL"	"OMIM:619040"	"Myofibrillar myopathy 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-28 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42839"	"2024-01-02"
"GENCC_000101-HGNC_11503-OMIM_615530-HP_0000007-GENCC_100003"	"HGNC:11503"	"SYNJ1"	"MONDO:0014233"	"early-onset Parkinson disease 20"	"OMIM:615530"	"Parkinson disease 20, early-onset"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11503"	"SYNJ1"	"OMIM:615530"	"Parkinson disease 20, early-onset"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-19 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"69670"	"2024-01-02"
"GENCC_000101-HGNC_11730-OMIM_613989-HP_0000007-GENCC_100001"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11730"	"TERT"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-04 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1559"	"2024-01-02"
"GENCC_000101-HGNC_17735-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:17735"	"TMEM63B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17735"	"TMEM63B"	"MONDO:0100038"	"Complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-08 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42842"	"2024-01-02"
"GENCC_000101-HGNC_11948-OMIM_620389-HP_0000006-GENCC_100004"	"HGNC:11948"	"TNNT1"	"MONDO:0957284"	"nemaline myopathy 5C, autosomal dominant"	"OMIM:620389"	"Nemaline myopathy 5C, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11948"	"TNNT1"	"OMIM:620389"	"Nemaline myopathy 5C, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-30 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42622"	"2024-01-02"
"GENCC_000101-HGNC_12017-OMIM_620393-HP_0000007-GENCC_100004"	"HGNC:12017"	"TPR"	"MONDO:0957288"	"intellectual developmental disorder, autosomal recessive 79"	"OMIM:620393"	"?Intellectual developmental disorder, autosomal recessive 79"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12017"	"TPR"	"OMIM:620393"	"Intellectual developmental disorder, autosomal recessive 79"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-06 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42883"	"2024-01-02"
"GENCC_000101-HGNC_10781-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:10781"	"TRA2B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10781"	"TRA2B"	"MONDO:0100038"	"Complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-29 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42886"	"2024-01-02"
"GENCC_000101-HGNC_12338-OMIM_603965-HP_0000006-GENCC_100002"	"HGNC:12338"	"TRPC6"	"MONDO:0011390"	"focal segmental glomerulosclerosis 2"	"OMIM:603965"	"Glomerulosclerosis, focal segmental, 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12338"	"TRPC6"	"OMIM:603965"	"Glomerulosclerosis, focal segmental, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-08-09 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64422"	"2024-01-02"
"GENCC_000101-HGNC_17992-OMIM_620224-HP_0000006-GENCC_100002"	"HGNC:17992"	"TRPM3"	"MONDO:0859365"	"neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures"	"OMIM:620224"	"Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17992"	"TRPM3"	"OMIM:620224"	"Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-07-05 23:11:05"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42885"	"2024-01-02"
"GENCC_000101-HGNC_12403-OMIM_603689-HP_0000006-GENCC_100003"	"HGNC:12403"	"TTN"	"MONDO:0011362"	"myopathy, myofibrillar, 9, with early respiratory failure"	"OMIM:603689"	"Myopathy, myofibrillar, 9, with early respiratory failure"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12403"	"TTN"	"OMIM:603689"	"Myopathy, myofibrillar, 9, with early respiratory failure"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-06-27 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42238"	"2024-01-02"
"GENCC_000101-HGNC_12563-OMIM_258900-HP_0000006-GENCC_100003"	"HGNC:12563"	"UMPS"	"MONDO:0009797"	"orotic aciduria"	"OMIM:258900"	"Orotic aciduria"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12563"	"UMPS"	"OMIM:258900"	"Orotic aciduria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-09-27 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42697"	"2024-01-02"
"GENCC_000101-HGNC_19966-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:19966"	"UNC79"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19966"	"UNC79"	"MONDO:0100038"	"Complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-07-18 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78611"	"2024-01-02"
"GENCC_000101-HGNC_29071-OMIM_620422-HP_0000006-GENCC_100004"	"HGNC:29071"	"VWA8"	"MONDO:0957314"	"retinitis pigmentosa 97"	"OMIM:620422"	"?Retinitis pigmentosa 97"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29071"	"VWA8"	"OMIM:620422"	"Retinitis pigmentosa 97"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-08-17 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42856"	"2024-01-02"
"GENCC_000101-HGNC_29250-OMIM_613610-HP_0000007-GENCC_100001"	"HGNC:29250"	"WDR35"	"MONDO:0013323"	"cranioectodermal dysplasia 2"	"OMIM:613610"	"Cranioectodermal dysplasia 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29250"	"WDR35"	"OMIM:613610"	"Cranioectodermal dysplasia 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-19 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61901"	"2024-01-02"
"GENCC_000101-HGNC_30238-OMIM_619648-HP_0000007-GENCC_100004"	"HGNC:30238"	"WLS"	"MONDO:0859209"	"Zaki syndrome"	"OMIM:619648"	"Zaki syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30238"	"WLS"	"OMIM:619648"	"Zaki syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-07-13 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42899"	"2024-01-02"
"GENCC_000101-HGNC_14544-OMIM_614491-HP_0000006-GENCC_100003"	"HGNC:14544"	"WNK4"	"MONDO:0013777"	"pseudohypoaldosteronism type 2B"	"OMIM:614491"	"Pseudohypoaldosteronism, type IIB"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14544"	"WNK4"	"OMIM:614491"	"Pseudohypoaldosteronism, type IIB"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-08-03 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61629"	"2024-01-02"
"GENCC_000101-HGNC_17797-OMIM_616890-HP_0000007-GENCC_100004"	"HGNC:17797"	"MAP3K20"	"MONDO:0014816"	"split-foot malformation-mesoaxial polydactyly syndrome"	"OMIM:616890"	"Split-foot malformation with mesoaxial polydactyly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17797"	"ZAK"	"OMIM:616890"	"Split-foot malformation with mesoaxial polydactyly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-10-26 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"19244"	"2024-01-02"
"GENCC_000101-HGNC_17797-OMIM_617760-HP_0000007-GENCC_100003"	"HGNC:17797"	"MAP3K20"	"MONDO:0054695"	"myopathy, centronuclear, 6, with fiber-type disproportion"	"OMIM:617760"	"Centronuclear myopathy 6 with fiber-type disproportion"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17797"	"ZAK"	"OMIM:617760"	"Centronuclear myopathy 6 with fiber-type disproportion"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-10-26 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11970"	"2024-01-02"
"GENCC_000101-HGNC_24931-OMIM_301041-HP_0001417-GENCC_100001"	"HGNC:24931"	"ZC4H2"	"MONDO:0026762"	"Wieacker-Wolff syndrome, female-restricted"	"OMIM:301041"	"Wieacker-Wolff syndrome, female-restricted"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24931"	"ZC4H2"	"OMIM:301041"	"Wieacker-Wolff syndrome, female-restricted"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-10-18 23:11:06"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13790"	"2024-01-02"
"GENCC_000101-HGNC_2707-MONDO_0009970-HP_0000007-GENCC_100003"	"HGNC:2707"	"ACE"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2707"	"ACE"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 00:00:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"81911"	"2024-01-02"
"GENCC_000101-HGNC_15672-MONDO_0012117-HP_0000007-GENCC_100003"	"HGNC:15672"	"ALG9"	"MONDO:0012117"	"ALG9-congenital disorder of glycosylation"	"MONDO:0012117"	"ALG9-congenital disorder of glycosylation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15672"	"ALG9"	"MONDO:0012117"	"ALG9-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2018-08-31 00:00:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"43431"	"2024-01-02"
"GENCC_000101-HGNC_26182-MONDO_0100105-HP_0000007-GENCC_100003"	"HGNC:26182"	"COLGALT1"	"MONDO:0100105"	"brain small vessel disease 3"	"MONDO:0100105"	"brain small vessel disease 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26182"	"COLGALT1"	"MONDO:0100105"	"brain small vessel disease 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2021-03-12 00:00:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"43423"	"2024-01-02"
"GENCC_000102-HGNC_23336-MONDO_0018997-HP_0000006-GENCC_100005"	"HGNC:23336"	"A2ML1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23336"	"A2ML1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d910a9d8-516e-443d-acba-8d61f7574792-2018-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d910a9d8-516e-443d-acba-8d61f7574792"	"2024-04-21"
"GENCC_000102-HGNC_20-MONDO_0013212-HP_0000006-GENCC_100001"	"HGNC:20"	"AARS1"	"MONDO:0013212"	"Charcot-Marie-Tooth disease axonal type 2N"	"MONDO:0013212"	"Charcot-Marie-Tooth disease axonal type 2N"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20"	"AARS1"	"MONDO:0013212"	"Charcot-Marie-Tooth disease axonal type 2N"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92de3832-c272-4993-8586-288c6331dec2-2024-03-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"92de3832-c272-4993-8586-288c6331dec2"	"2024-04-21"
"GENCC_000102-HGNC_21022-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:21022"	"AARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21022"	"AARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_583e237c-18f6-4427-a04f-82ea0f020daf-2022-04-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"583e237c-18f6-4427-a04f-82ea0f020daf"	"2024-04-21"
"GENCC_000102-HGNC_17366-MONDO_0009388-HP_0000007-GENCC_100001"	"HGNC:17366"	"AASS"	"MONDO:0009388"	"hyperlysinemia"	"MONDO:0009388"	"hyperlysinemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17366"	"AASS"	"MONDO:0009388"	"hyperlysinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92e04f9e-f03e-4295-baac-e9fb6b48a258-2022-10-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"92e04f9e-f03e-4295-baac-e9fb6b48a258"	"2024-04-21"
"GENCC_000102-HGNC_23-MONDO_0100062-HP_0000007-GENCC_100003"	"HGNC:23"	"ABAT"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23"	"ABAT"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5138ad-d4b8-4ea1-aa78-b5d1f07b2b82-2022-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3a5138ad-d4b8-4ea1-aa78-b5d1f07b2b82"	"2024-04-21"
"GENCC_000102-HGNC_34-MONDO_0800406-HP_0000007-GENCC_100001"	"HGNC:34"	"ABCA4"	"MONDO:0800406"	"ABCA4-related retinopathy"	"MONDO:0800406"	"ABCA4-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:34"	"ABCA4"	"MONDO:0800406"	"ABCA4-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38729563-bf36-48ae-929e-fa69a225de39-2022-10-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"38729563-bf36-48ae-929e-fa69a225de39"	"2024-04-21"
"GENCC_000102-HGNC_45-MONDO_0011214-HP_0000007-GENCC_100001"	"HGNC:45"	"ABCB4"	"MONDO:0011214"	"progressive familial intrahepatic cholestasis type 3"	"MONDO:0011214"	"progressive familial intrahepatic cholestasis type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:45"	"ABCB4"	"MONDO:0011214"	"progressive familial intrahepatic cholestasis type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_009134d7-b79c-4a90-9bae-c1f302439258-2022-11-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"009134d7-b79c-4a90-9bae-c1f302439258"	"2024-04-21"
"GENCC_000102-HGNC_48-MONDO_0044970-HP_0001417-GENCC_100003"	"HGNC:48"	"ABCB7"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:48"	"ABCB7"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ff096d-abfb-47df-8ac1-c942a98828b0-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f3ff096d-abfb-47df-8ac1-c942a98828b0"	"2024-04-21"
"GENCC_000102-HGNC_55-MONDO_0001197-HP_0000007-GENCC_100003"	"HGNC:55"	"ABCC4"	"MONDO:0001197"	"qualitative platelet defect"	"MONDO:0001197"	"qualitative platelet defect"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:55"	"ABCC4"	"MONDO:0001197"	"qualitative platelet defect"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2828abac-5b4a-4dad-a703-10c0daf35dbd-2022-05-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2828abac-5b4a-4dad-a703-10c0daf35dbd"	"2024-04-21"
"GENCC_000102-HGNC_59-MONDO_0015924-HP_0000006-GENCC_100003"	"HGNC:59"	"ABCC8"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:59"	"ABCC8"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-10-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14b1739d-8890-4927-8efb-e909f48bad5a-2022-10-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14b1739d-8890-4927-8efb-e909f48bad5a"	"2024-04-21"
"GENCC_000102-HGNC_59-MONDO_0015967-HP_0032113-GENCC_100001"	"HGNC:59"	"ABCC8"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:59"	"ABCC8"	"MONDO:0015967"	"monogenic diabetes"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33c0dfa5-c6ea-42fd-8118-be6ff97beb3e-2022-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"33c0dfa5-c6ea-42fd-8118-be6ff97beb3e"	"2024-04-21"
"GENCC_000102-HGNC_60-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:60"	"ABCC9"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:60"	"ABCC9"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-11-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8be22ebc-f0f5-4de5-9c2a-382ebd02c533-2020-11-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8be22ebc-f0f5-4de5-9c2a-382ebd02c533"	"2024-04-21"
"GENCC_000102-HGNC_61-MONDO_0018544-HP_0001417-GENCC_100001"	"HGNC:61"	"ABCD1"	"MONDO:0018544"	"adrenoleukodystrophy"	"MONDO:0018544"	"adrenoleukodystrophy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:61"	"ABCD1"	"MONDO:0018544"	"adrenoleukodystrophy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-18 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"815e0f84-b530-4fd2-81a9-02e02bf352ee"	"2024-04-21"
"GENCC_000102-HGNC_67-MONDO_0014564-HP_0000007-GENCC_100004"	"HGNC:67"	"ABCD3"	"MONDO:0014564"	"congenital bile acid synthesis defect 5"	"MONDO:0014564"	"congenital bile acid synthesis defect 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:67"	"ABCD3"	"MONDO:0014564"	"congenital bile acid synthesis defect 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8d82e6f-8ee8-4944-898b-165916c13cac-2022-04-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f8d82e6f-8ee8-4944-898b-165916c13cac"	"2024-04-21"
"GENCC_000102-HGNC_68-MONDO_0013925-HP_0000007-GENCC_100003"	"HGNC:68"	"ABCD4"	"MONDO:0013925"	"methylmalonic acidemia with homocystinuria, type cblJ"	"MONDO:0013925"	"methylmalonic acidemia with homocystinuria, type cblJ"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:68"	"ABCD4"	"MONDO:0013925"	"methylmalonic acidemia with homocystinuria, type cblJ"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-12-22 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_902c9288-f6bd-4068-9a5f-652b49583d93-2023-12-22T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"902c9288-f6bd-4068-9a5f-652b49583d93"	"2024-04-21"
"GENCC_000102-HGNC_13886-MONDO_0008863-HP_0000007-GENCC_100001"	"HGNC:13886"	"ABCG5"	"MONDO:0008863"	"sitosterolemia"	"MONDO:0008863"	"sitosterolemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13886"	"ABCG5"	"MONDO:0008863"	"sitosterolemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c52c7403-8975-4a3f-8796-a966e977f708-2020-07-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c52c7403-8975-4a3f-8796-a966e977f708"	"2024-04-21"
"GENCC_000102-HGNC_13887-MONDO_0008863-HP_0000007-GENCC_100001"	"HGNC:13887"	"ABCG8"	"MONDO:0008863"	"sitosterolemia"	"MONDO:0008863"	"sitosterolemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13887"	"ABCG8"	"MONDO:0008863"	"sitosterolemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-14 20:28:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af59edc2-1148-4dca-b804-192639017b65-2020-07-14T202806.911Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"af59edc2-1148-4dca-b804-192639017b65"	"2024-04-21"
"GENCC_000102-HGNC_15868-MONDO_0012984-HP_0000007-GENCC_100001"	"HGNC:15868"	"ABHD12"	"MONDO:0012984"	"PHARC syndrome"	"MONDO:0012984"	"PHARC syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15868"	"ABHD12"	"MONDO:0012984"	"PHARC syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccd68c20-2024-4239-be51-26697e19a6b4-2018-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ccd68c20-2024-4239-be51-26697e19a6b4"	"2024-04-21"
"GENCC_000102-HGNC_21396-MONDO_0010155-HP_0000007-GENCC_100001"	"HGNC:21396"	"ABHD5"	"MONDO:0010155"	"Dorfman-Chanarin disease"	"MONDO:0010155"	"Dorfman-Chanarin disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21396"	"ABHD5"	"MONDO:0010155"	"Dorfman-Chanarin disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19bf65b3-0c75-46e2-8796-5664ce6dd371-2022-08-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"19bf65b3-0c75-46e2-8796-5664ce6dd371"	"2024-04-21"
"GENCC_000102-HGNC_87-MONDO_0012648-HP_0000007-GENCC_100001"	"HGNC:87"	"ACAD8"	"MONDO:0012648"	"isobutyryl-CoA dehydrogenase deficiency"	"MONDO:0012648"	"isobutyryl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:87"	"ACAD8"	"MONDO:0012648"	"isobutyryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d260f0e-df71-420a-9281-92e4bddcddbb-2019-04-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0d260f0e-df71-420a-9281-92e4bddcddbb"	"2024-04-21"
"GENCC_000102-HGNC_21497-MONDO_0012624-HP_0000007-GENCC_100001"	"HGNC:21497"	"ACAD9"	"MONDO:0012624"	"acyl-CoA dehydrogenase 9 deficiency"	"MONDO:0012624"	"acyl-CoA dehydrogenase 9 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21497"	"ACAD9"	"MONDO:0012624"	"acyl-CoA dehydrogenase 9 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-03-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fad1866-75ce-470f-984c-e64bb7e11168-2018-03-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5fad1866-75ce-470f-984c-e64bb7e11168"	"2024-04-21"
"GENCC_000102-HGNC_88-MONDO_0020531-HP_0000007-GENCC_100005"	"HGNC:88"	"ACADL"	"MONDO:0020531"	"long chain acyl-CoA dehydrogenase deficiency"	"MONDO:0020531"	"long chain acyl-CoA dehydrogenase deficiency"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:88"	"ACADL"	"MONDO:0020531"	"long chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-25 19:48:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d95637bf-c628-4d23-a0d5-656db55a09a4-2021-01-25T194827.344Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d95637bf-c628-4d23-a0d5-656db55a09a4"	"2024-04-21"
"GENCC_000102-HGNC_89-MONDO_0008721-HP_0000007-GENCC_100001"	"HGNC:89"	"ACADM"	"MONDO:0008721"	"medium chain acyl-CoA dehydrogenase deficiency"	"MONDO:0008721"	"medium chain acyl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:89"	"ACADM"	"MONDO:0008721"	"medium chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb987774-0e5b-4466-924f-6f19fccc6599-2018-01-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fb987774-0e5b-4466-924f-6f19fccc6599"	"2024-04-21"
"GENCC_000102-HGNC_90-MONDO_0008722-HP_0000007-GENCC_100001"	"HGNC:90"	"ACADS"	"MONDO:0008722"	"short chain acyl-CoA dehydrogenase deficiency"	"MONDO:0008722"	"short chain acyl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:90"	"ACADS"	"MONDO:0008722"	"short chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6bc94e9-cdf2-4efb-b654-004541efc344-2018-01-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c6bc94e9-cdf2-4efb-b654-004541efc344"	"2024-04-21"
"GENCC_000102-HGNC_91-MONDO_0012392-HP_0000007-GENCC_100001"	"HGNC:91"	"ACADSB"	"MONDO:0012392"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"MONDO:0012392"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:91"	"ACADSB"	"MONDO:0012392"	"2-methylbutyryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bfa3857-c96c-40ac-b4c1-2cf04fd4eb4f-2019-03-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8bfa3857-c96c-40ac-b4c1-2cf04fd4eb4f"	"2024-04-21"
"GENCC_000102-HGNC_92-MONDO_0008723-HP_0000007-GENCC_100001"	"HGNC:92"	"ACADVL"	"MONDO:0008723"	"very long chain acyl-CoA dehydrogenase deficiency"	"MONDO:0008723"	"very long chain acyl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:92"	"ACADVL"	"MONDO:0008723"	"very long chain acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_130ca053-9f40-4fd5-b89c-b9b374694fda-2018-02-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"130ca053-9f40-4fd5-b89c-b9b374694fda"	"2024-04-21"
"GENCC_000102-HGNC_93-MONDO_0008760-HP_0000007-GENCC_100001"	"HGNC:93"	"ACAT1"	"MONDO:0008760"	"beta-ketothiolase deficiency"	"MONDO:0008760"	"beta-ketothiolase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:93"	"ACAT1"	"MONDO:0008760"	"beta-ketothiolase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99bcab0a-de59-479d-8fe6-8b76cbce90ee-2018-05-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"99bcab0a-de59-479d-8fe6-8b76cbce90ee"	"2024-04-21"
"GENCC_000102-HGNC_94-MONDO_0013548-HP_0000005-GENCC_100008"	"HGNC:94"	"ACAT2"	"MONDO:0013548"	"acetyl-CoA acetyltransferase-2 deficiency"	"MONDO:0013548"	"acetyl-CoA acetyltransferase-2 deficiency"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:94"	"ACAT2"	"MONDO:0013548"	"acetyl-CoA acetyltransferase-2 deficiency"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2021-01-25 19:48:53"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cb46678-6e33-4d34-86ba-fdf59e59fb80-2021-01-25T194853.212Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7cb46678-6e33-4d34-86ba-fdf59e59fb80"	"2024-04-21"
"GENCC_000102-HGNC_23338-MONDO_0100112-HP_0000007-GENCC_100003"	"HGNC:23338"	"ACBD5"	"MONDO:0100112"	"acyl-CoA binding domain containing protein 5 deficiency"	"MONDO:0100112"	"acyl-CoA binding domain containing protein 5 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23338"	"ACBD5"	"MONDO:0100112"	"acyl-CoA binding domain containing protein 5 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-04-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ac052f6-de8d-4c14-adf2-bbecb624defd-2022-04-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8ac052f6-de8d-4c14-adf2-bbecb624defd"	"2024-04-21"
"GENCC_000102-HGNC_119-MONDO_0030073-HP_0000006-GENCC_100002"	"HGNC:119"	"ACOX1"	"MONDO:0030073"	"Mitchell syndrome"	"MONDO:0030073"	"Mitchell syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:119"	"ACOX1"	"MONDO:0030073"	"Mitchell syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-12-29 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2efeef00-0803-472b-8e25-080e4728c018-2022-12-29T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2efeef00-0803-472b-8e25-080e4728c018"	"2024-04-21"
"GENCC_000102-HGNC_119-MONDO_0009919-HP_0000007-GENCC_100001"	"HGNC:119"	"ACOX1"	"MONDO:0009919"	"peroxisomal acyl-CoA oxidase deficiency"	"MONDO:0009919"	"peroxisomal acyl-CoA oxidase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:119"	"ACOX1"	"MONDO:0009919"	"peroxisomal acyl-CoA oxidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96026ae4-050d-4eb5-849c-178c703a556e-2022-11-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"96026ae4-050d-4eb5-849c-178c703a556e"	"2024-04-21"
"GENCC_000102-HGNC_120-MONDO_0015015-HP_0000007-GENCC_100003"	"HGNC:120"	"ACOX2"	"MONDO:0015015"	"congenital bile acid synthesis defect 6"	"MONDO:0015015"	"congenital bile acid synthesis defect 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:120"	"ACOX2"	"MONDO:0015015"	"congenital bile acid synthesis defect 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-20 17:19:35"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5627eadb-12f9-4768-915c-3da73c425650-2022-05-20T171935.296Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5627eadb-12f9-4768-915c-3da73c425650"	"2024-04-21"
"GENCC_000102-HGNC_27288-MONDO_0013661-HP_0000007-GENCC_100001"	"HGNC:27288"	"ACSF3"	"MONDO:0013661"	"combined malonic and methylmalonic acidemia"	"MONDO:0013661"	"combined malonic and methylmalonic acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:27288"	"ACSF3"	"MONDO:0013661"	"combined malonic and methylmalonic acidemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b215e20c-7781-49a0-b473-9219cb07e0b9-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b215e20c-7781-49a0-b473-9219cb07e0b9"	"2024-04-21"
"GENCC_000102-HGNC_3571-MONDO_0019181-HP_0001417-GENCC_100001"	"HGNC:3571"	"ACSL4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3571"	"ACSL4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-10 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4da722c-f7fc-4dc4-ad19-1d1b023d488f-2023-01-10T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b4da722c-f7fc-4dc4-ad19-1d1b023d488f"	"2024-04-21"
"GENCC_000102-HGNC_129-MONDO_0100084-HP_0000007-GENCC_100001"	"HGNC:129"	"ACTA1"	"MONDO:0100084"	"alpha-actinopathy"	"MONDO:0100084"	"alpha-actinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:129"	"ACTA1"	"MONDO:0100084"	"alpha-actinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_098a7b3a-26ab-4915-8187-f6db682cef4f-2024-02-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"098a7b3a-26ab-4915-8187-f6db682cef4f"	"2024-04-21"
"GENCC_000102-HGNC_129-MONDO_0100084-HP_0000006-GENCC_100001"	"HGNC:129"	"ACTA1"	"MONDO:0100084"	"alpha-actinopathy"	"MONDO:0100084"	"alpha-actinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:129"	"ACTA1"	"MONDO:0100084"	"alpha-actinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba47597e-07a0-45e3-a971-f15807e8a1a4-2024-02-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ba47597e-07a0-45e3-a971-f15807e8a1a4"	"2024-04-21"
"GENCC_000102-HGNC_130-MONDO_0019625-HP_0000006-GENCC_100001"	"HGNC:130"	"ACTA2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:130"	"ACTA2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-09-27 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8249"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8249"	"2024-04-21"
"GENCC_000102-HGNC_132-MONDO_0100433-HP_0000006-GENCC_100003"	"HGNC:132"	"ACTB"	"MONDO:0100433"	"ACTB-associated syndromic thrombocytopenia"	"MONDO:0100433"	"ACTB-associated syndromic thrombocytopenia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:132"	"ACTB"	"MONDO:0100433"	"ACTB-associated syndromic thrombocytopenia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cee7fd2-09f7-41dc-9742-542917d856b0-2022-05-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9cee7fd2-09f7-41dc-9742-542917d856b0"	"2024-04-21"
"GENCC_000102-HGNC_132-MONDO_0017579-HP_0000006-GENCC_100001"	"HGNC:132"	"ACTB"	"MONDO:0017579"	"Baraitser-Winter cerebrofrontofacial syndrome"	"MONDO:0017579"	"Baraitser-Winter cerebrofrontofacial syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:132"	"ACTB"	"MONDO:0017579"	"Baraitser-Winter cerebrofrontofacial syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-26 16:58:35"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa13dfad-ab93-4521-874a-5ede8f608fe4-2021-10-26T165835.977Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fa13dfad-ab93-4521-874a-5ede8f608fe4"	"2024-04-21"
"GENCC_000102-HGNC_143-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:143"	"ACTC1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:143"	"ACTC1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-23 20:16:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f62793b-0015-46eb-bb51-bddbae25ba0d-2021-06-23T201616.296Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2f62793b-0015-46eb-bb51-bddbae25ba0d"	"2024-04-21"
"GENCC_000102-HGNC_143-MONDO_0005021-HP_0000006-GENCC_100003"	"HGNC:143"	"ACTC1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:143"	"ACTC1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e9b4048-3003-4180-b891-fcf10d25a814-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3e9b4048-3003-4180-b891-fcf10d25a814"	"2024-04-21"
"GENCC_000102-HGNC_143-MONDO_0016587-HP_0000006-GENCC_100008"	"HGNC:143"	"ACTC1"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:143"	"ACTC1"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2019-03-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_748d4255-ef43-4b42-b9f1-1cdbc50de763-2019-03-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"748d4255-ef43-4b42-b9f1-1cdbc50de763"	"2024-04-21"
"GENCC_000102-HGNC_144-MONDO_0013812-HP_0000006-GENCC_100001"	"HGNC:144"	"ACTG1"	"MONDO:0013812"	"Baraitser-winter syndrome 2"	"MONDO:0013812"	"Baraitser-winter syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:144"	"ACTG1"	"MONDO:0013812"	"Baraitser-winter syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9969a221-1ce9-44c6-8ab7-2ad5f7ccd5ab-2019-01-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9969a221-1ce9-44c6-8ab7-2ad5f7ccd5ab"	"2024-04-21"
"GENCC_000102-HGNC_144-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:144"	"ACTG1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:144"	"ACTG1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db9f5d19-5ebc-4a1a-a4c3-79ff27f69a0e-2019-01-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db9f5d19-5ebc-4a1a-a4c3-79ff27f69a0e"	"2024-04-21"
"GENCC_000102-HGNC_24124-MONDO_0700121-HP_0000006-GENCC_100003"	"HGNC:24124"	"ACTL6A"	"MONDO:0700121"	"ACTL6A-related BAFopathy"	"MONDO:0700121"	"ACTL6A-related BAFopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24124"	"ACTL6A"	"MONDO:0700121"	"ACTL6A-related BAFopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9278e3c0-9174-4aed-8c13-b34618e88825-2023-07-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9278e3c0-9174-4aed-8c13-b34618e88825"	"2024-04-21"
"GENCC_000102-HGNC_163-MONDO_0014078-HP_0000006-GENCC_100001"	"HGNC:163"	"ACTN1"	"MONDO:0014078"	"platelet-type bleeding disorder 15"	"MONDO:0014078"	"platelet-type bleeding disorder 15"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:163"	"ACTN1"	"MONDO:0014078"	"platelet-type bleeding disorder 15"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_215f3113-cfb6-44cc-a68b-1eb6539c9fa0-2020-11-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"215f3113-cfb6-44cc-a68b-1eb6539c9fa0"	"2024-04-21"
"GENCC_000102-HGNC_164-MONDO_0000591-HP_0000006-GENCC_100001"	"HGNC:164"	"ACTN2"	"MONDO:0000591"	"intrinsic cardiomyopathy"	"MONDO:0000591"	"intrinsic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:164"	"ACTN2"	"MONDO:0000591"	"intrinsic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6710e329-d391-4355-85a5-02d03f8791a3-2023-05-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6710e329-d391-4355-85a5-02d03f8791a3"	"2024-04-21"
"GENCC_000102-HGNC_171-MONDO_0007606-HP_0000006-GENCC_100001"	"HGNC:171"	"ACVR1"	"MONDO:0007606"	"fibrodysplasia ossificans progressiva"	"MONDO:0007606"	"fibrodysplasia ossificans progressiva"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:171"	"ACVR1"	"MONDO:0007606"	"fibrodysplasia ossificans progressiva"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0439e75f-fc1b-4841-8c9a-17f3568ce8a4-2023-03-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0439e75f-fc1b-4841-8c9a-17f3568ce8a4"	"2024-04-21"
"GENCC_000102-HGNC_171-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:171"	"ACVR1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:171"	"ACVR1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-08-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a34f19aa-a12e-483c-ae09-a0fce770647b-2023-08-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a34f19aa-a12e-483c-ae09-a0fce770647b"	"2024-04-21"
"GENCC_000102-HGNC_175-MONDO_0010880-HP_0000006-GENCC_100001"	"HGNC:175"	"ACVRL1"	"MONDO:0010880"	"telangiectasia, hereditary hemorrhagic, type 2"	"MONDO:0010880"	"telangiectasia, hereditary hemorrhagic, type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:175"	"ACVRL1"	"MONDO:0010880"	"telangiectasia, hereditary hemorrhagic, type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbbb72c5-84a0-4096-8d49-6df506cfee0e-2022-12-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fbbb72c5-84a0-4096-8d49-6df506cfee0e"	"2024-04-21"
"GENCC_000102-HGNC_177-MONDO_0012368-HP_0000007-GENCC_100001"	"HGNC:177"	"ACY1"	"MONDO:0012368"	"aminoacylase 1 deficiency"	"MONDO:0012368"	"aminoacylase 1 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:177"	"ACY1"	"MONDO:0012368"	"aminoacylase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67196825-d32f-4070-9c15-debaa2287b73-2020-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"67196825-d32f-4070-9c15-debaa2287b73"	"2024-04-21"
"GENCC_000102-HGNC_186-MONDO_0007064-HP_0000007-GENCC_100001"	"HGNC:186"	"ADA"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:186"	"ADA"	"MONDO:0007064"	"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_664ba77c-3db6-47da-941e-316ac819432a-2020-11-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"664ba77c-3db6-47da-941e-316ac819432a"	"2024-04-21"
"GENCC_000102-HGNC_1839-MONDO_0100317-HP_0000007-GENCC_100001"	"HGNC:1839"	"ADA2"	"MONDO:0100317"	"deficiency of adenosine deaminase 2"	"MONDO:0100317"	"deficiency of adenosine deaminase 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1839"	"ADA2"	"MONDO:0100317"	"deficiency of adenosine deaminase 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e05f1338-6a58-4991-af3b-6433bd165a9f-2023-05-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e05f1338-6a58-4991-af3b-6433bd165a9f"	"2024-04-21"
"GENCC_000102-HGNC_195-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:195"	"ADAM17"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:195"	"ADAM17"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-08-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ad3a100-7a22-4065-aaa2-87c64a843486-2023-08-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8ad3a100-7a22-4065-aaa2-87c64a843486"	"2024-04-21"
"GENCC_000102-HGNC_216-MONDO_0800398-HP_0000007-GENCC_100001"	"HGNC:216"	"ADAM9"	"MONDO:0800398"	"ADAM9-related retinopathy"	"MONDO:0800398"	"ADAM9-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:216"	"ADAM9"	"MONDO:0800398"	"ADAM9-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c648ec73-186d-4680-93ea-29f5fdf91812-2022-09-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c648ec73-186d-4680-93ea-29f5fdf91812"	"2024-04-21"
"GENCC_000102-HGNC_1366-MONDO_0010122-HP_0000007-GENCC_100001"	"HGNC:1366"	"ADAMTS13"	"MONDO:0010122"	"congenital thrombotic thrombocytopenic purpura"	"MONDO:0010122"	"congenital thrombotic thrombocytopenic purpura"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1366"	"ADAMTS13"	"MONDO:0010122"	"congenital thrombotic thrombocytopenic purpura"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6442c328-21be-482d-9ea9-ce694c1a5dd9-2020-03-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6442c328-21be-482d-9ea9-ce694c1a5dd9"	"2024-04-21"
"GENCC_000102-HGNC_17110-MONDO_0014195-HP_0000007-GENCC_100001"	"HGNC:17110"	"ADAMTS18"	"MONDO:0014195"	"microcornea-myopic chorioretinal atrophy"	"MONDO:0014195"	"microcornea-myopic chorioretinal atrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17110"	"ADAMTS18"	"MONDO:0014195"	"microcornea-myopic chorioretinal atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-02 21:24:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95caeabe-f92c-4884-87b4-ed97f15769f3-2022-03-02T212447.170Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"95caeabe-f92c-4884-87b4-ed97f15769f3"	"2024-04-21"
"GENCC_000102-HGNC_13202-MONDO_0005308-HP_0000007-GENCC_100004"	"HGNC:13202"	"ADAMTS9"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13202"	"ADAMTS9"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-05-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a31b47e0-c9a5-4bdd-99d7-2d7f0d2a3bc8-2022-05-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a31b47e0-c9a5-4bdd-99d7-2d7f0d2a3bc8"	"2024-04-21"
"GENCC_000102-HGNC_225-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:225"	"ADAR"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:225"	"ADAR"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-27 16:46:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03f538b5-43af-4699-9ddb-264077de21c9-2020-08-27T164642.352Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03f538b5-43af-4699-9ddb-264077de21c9"	"2024-04-21"
"GENCC_000102-HGNC_225-MONDO_0018866-HP_0000007-GENCC_100001"	"HGNC:225"	"ADAR"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:225"	"ADAR"	"MONDO:0018866"	"Aicardi-Goutieres syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cf90ec8-f2fd-4b93-89ca-d20e628a6109-2024-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9cf90ec8-f2fd-4b93-89ca-d20e628a6109"	"2024-04-21"
"GENCC_000102-HGNC_232-MONDO_0019588-HP_0000007-GENCC_100004"	"HGNC:232"	"ADCY1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:232"	"ADCY1"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-05-10 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8152"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8152"	"2024-04-21"
"GENCC_000102-HGNC_245-MONDO_0100516-HP_0000007-GENCC_100003"	"HGNC:245"	"ADD3"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:245"	"ADD3"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-08-15 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a858435-3e50-406f-8ec3-9f4e40b1c392-2022-08-15T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8a858435-3e50-406f-8ec3-9f4e40b1c392"	"2024-04-21"
"GENCC_000102-HGNC_4512-MONDO_0011738-HP_0000007-GENCC_100002"	"HGNC:4512"	"ADGRG1"	"MONDO:0011738"	"bilateral frontoparietal polymicrogyria"	"MONDO:0011738"	"bilateral frontoparietal polymicrogyria"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4512"	"ADGRG1"	"MONDO:0011738"	"bilateral frontoparietal polymicrogyria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-11-29 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00a967bf-7f3a-4305-8210-7787f257a836-2023-11-29T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"00a967bf-7f3a-4305-8210-7787f257a836"	"2024-04-21"
"GENCC_000102-HGNC_17416-MONDO_0019497-HP_0000007-GENCC_100005"	"HGNC:17416"	"ADGRV1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17416"	"ADGRV1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2019-03-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f3dc96a-8fd3-4d30-98fd-1b1cf264e818-2019-03-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f3dc96a-8fd3-4d30-98fd-1b1cf264e818"	"2024-04-21"
"GENCC_000102-HGNC_17416-MONDO_0016484-HP_0000007-GENCC_100001"	"HGNC:17416"	"ADGRV1"	"MONDO:0016484"	"Usher syndrome type 2"	"MONDO:0016484"	"Usher syndrome type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17416"	"ADGRV1"	"MONDO:0016484"	"Usher syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_992d2cd7-5305-4278-9601-3e59ac1a8770-2017-02-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"992d2cd7-5305-4278-9601-3e59ac1a8770"	"2024-04-21"
"GENCC_000102-HGNC_257-MONDO_0100255-HP_0000007-GENCC_100001"	"HGNC:257"	"ADK"	"MONDO:0100255"	"adenosine kinase deficiency"	"MONDO:0100255"	"adenosine kinase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:257"	"ADK"	"MONDO:0100255"	"adenosine kinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2319ca2-652d-411e-ab6d-5b7fb7e185ea-2021-04-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c2319ca2-652d-411e-ab6d-5b7fb7e185ea"	"2024-04-21"
"GENCC_000102-HGNC_15766-MONDO_0014379-HP_0000006-GENCC_100001"	"HGNC:15766"	"ADNP"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15766"	"ADNP"	"MONDO:0014379"	"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_837200e1-ed55-415b-bd9e-6649e4abab1d-2020-01-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"837200e1-ed55-415b-bd9e-6649e4abab1d"	"2024-04-21"
"GENCC_000102-HGNC_291-MONDO_0007068-HP_0000007-GENCC_100001"	"HGNC:291"	"ADSL"	"MONDO:0007068"	"adenylosuccinate lyase deficiency"	"MONDO:0007068"	"adenylosuccinate lyase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:291"	"ADSL"	"MONDO:0007068"	"adenylosuccinate lyase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d282f565-84e4-4a47-9acc-77ee31bbe9f6-2020-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d282f565-84e4-4a47-9acc-77ee31bbe9f6"	"2024-04-21"
"GENCC_000102-HGNC_3776-MONDO_0019181-HP_0001417-GENCC_100001"	"HGNC:3776"	"AFF2"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3776"	"AFF2"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-10-20 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab4216e3-61b7-4542-ad3a-8788a7ef8b63-2017-10-20T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab4216e3-61b7-4542-ad3a-8788a7ef8b63"	"2024-04-21"
"GENCC_000102-HGNC_318-MONDO_0008830-HP_0000007-GENCC_100001"	"HGNC:318"	"AGA"	"MONDO:0008830"	"aspartylglucosaminuria"	"MONDO:0008830"	"aspartylglucosaminuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:318"	"AGA"	"MONDO:0008830"	"aspartylglucosaminuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f315b4a-1a3b-4deb-90fd-2b73f732a4ba-2022-09-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f315b4a-1a3b-4deb-90fd-2b73f732a4ba"	"2024-04-21"
"GENCC_000102-HGNC_21869-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:21869"	"AGK"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21869"	"AGK"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-06 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f2f03ad-0f05-4e7d-b76e-f73b6e72251a-2023-02-06T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9f2f03ad-0f05-4e7d-b76e-f73b6e72251a"	"2024-04-21"
"GENCC_000102-HGNC_321-MONDO_0009291-HP_0000007-GENCC_100001"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"MONDO:0009291"	"glycogen storage disease III"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:321"	"AGL"	"MONDO:0009291"	"glycogen storage disease III"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-24 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7b762bc-a12f-4194-91b9-764784248cc7-2023-02-24T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7b762bc-a12f-4194-91b9-764784248cc7"	"2024-04-21"
"GENCC_000102-HGNC_3263-MONDO_0030897-HP_0000006-GENCC_100001"	"HGNC:3263"	"AGO2"	"MONDO:0030897"	"Lessel-Kreienkamp syndrome"	"MONDO:0030897"	"Lessel-Kreienkamp syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3263"	"AGO2"	"MONDO:0030897"	"Lessel-Kreienkamp syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec86c06a-f5a3-448d-be53-277bc91d12de-2023-09-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ec86c06a-f5a3-448d-be53-277bc91d12de"	"2024-04-21"
"GENCC_000102-HGNC_327-MONDO_0100274-HP_0000007-GENCC_100001"	"HGNC:327"	"AGPS"	"MONDO:0100274"	"alkylglycerone-phosphate synthase deficiency"	"MONDO:0100274"	"alkylglycerone-phosphate synthase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:327"	"AGPS"	"MONDO:0100274"	"alkylglycerone-phosphate synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aba640e2-c95d-414b-8c72-d22769e4366a-2022-04-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aba640e2-c95d-414b-8c72-d22769e4366a"	"2024-04-21"
"GENCC_000102-HGNC_338-MONDO_0100148-HP_0001417-GENCC_100005"	"HGNC:338"	"AGTR2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:338"	"AGTR2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-06-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7cfa2a0-e6a7-49b8-a773-b32a1dfbcd57-2020-06-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d7cfa2a0-e6a7-49b8-a773-b32a1dfbcd57"	"2024-04-21"
"GENCC_000102-HGNC_341-MONDO_0100278-HP_0000007-GENCC_100001"	"HGNC:341"	"AGXT"	"MONDO:0100278"	"alanine glyoxylate aminotransferase deficiency"	"MONDO:0100278"	"alanine glyoxylate aminotransferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:341"	"AGXT"	"MONDO:0100278"	"alanine glyoxylate aminotransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8460f17d-4d94-4a0c-ac46-41c86ce32e83-2020-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8460f17d-4d94-4a0c-ac46-41c86ce32e83"	"2024-04-21"
"GENCC_000102-HGNC_343-MONDO_0013404-HP_0000007-GENCC_100003"	"HGNC:343"	"AHCY"	"MONDO:0013404"	"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"	"MONDO:0013404"	"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:343"	"AHCY"	"MONDO:0013404"	"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9b3a56b-b188-44d1-9983-a059895c0ba1-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d9b3a56b-b188-44d1-9983-a059895c0ba1"	"2024-04-21"
"GENCC_000102-HGNC_25230-MONDO_0014358-HP_0000006-GENCC_100001"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:25230"	"AHDC1"	"MONDO:0014358"	"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59a6c010-95ac-4813-9cf4-5ff60fa5c7e9-2021-11-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"59a6c010-95ac-4813-9cf4-5ff60fa5c7e9"	"2024-04-21"
"GENCC_000102-HGNC_21575-MONDO_0012078-HP_0000007-GENCC_100001"	"HGNC:21575"	"AHI1"	"MONDO:0012078"	"Joubert syndrome 3"	"MONDO:0012078"	"Joubert syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21575"	"AHI1"	"MONDO:0012078"	"Joubert syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-26 14:33:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0d8d22f-cea6-4f4f-bc71-e85303dccac1-2021-10-26T143345.589Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d0d8d22f-cea6-4f4f-bc71-e85303dccac1"	"2024-04-21"
"GENCC_000102-HGNC_13203-MONDO_0011528-HP_0000007-GENCC_100001"	"HGNC:13203"	"AICDA"	"MONDO:0011528"	"hyper-IgM syndrome type 2"	"MONDO:0011528"	"hyper-IgM syndrome type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13203"	"AICDA"	"MONDO:0011528"	"hyper-IgM syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b34c451d-03a1-42dd-a439-599428b0eb38-2023-07-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b34c451d-03a1-42dd-a439-599428b0eb38"	"2024-04-21"
"GENCC_000102-HGNC_13203-MONDO_0011528-HP_0000006-GENCC_100001"	"HGNC:13203"	"AICDA"	"MONDO:0011528"	"hyper-IgM syndrome type 2"	"MONDO:0011528"	"hyper-IgM syndrome type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13203"	"AICDA"	"MONDO:0011528"	"hyper-IgM syndrome type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc16b40a-e78d-432a-88e8-f1ee6c0735f3-2023-07-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dc16b40a-e78d-432a-88e8-f1ee6c0735f3"	"2024-04-21"
"GENCC_000102-HGNC_8768-MONDO_0010378-HP_0001417-GENCC_100001"	"HGNC:8768"	"AIFM1"	"MONDO:0010378"	"X-linked hereditary sensory and autonomic neuropathy with hearing loss"	"MONDO:0010378"	"X-linked hereditary sensory and autonomic neuropathy with hearing loss"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8768"	"AIFM1"	"MONDO:0010378"	"X-linked hereditary sensory and autonomic neuropathy with hearing loss"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7afc3bb-7fce-45fd-a275-87277e22b1eb-2018-07-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7afc3bb-7fce-45fd-a275-87277e22b1eb"	"2024-04-21"
"GENCC_000102-HGNC_8768-MONDO_0009723-HP_0001417-GENCC_100003"	"HGNC:8768"	"AIFM1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8768"	"AIFM1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-14 13:57:32"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e917f93b-01ef-42e3-bf8d-b50a91f83f9c-2021-06-14T135732.582Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e917f93b-01ef-42e3-bf8d-b50a91f83f9c"	"2024-04-21"
"GENCC_000102-HGNC_359-MONDO_0100438-HP_0000007-GENCC_100001"	"HGNC:359"	"AIPL1"	"MONDO:0100438"	"AIPL1-related retinopathy"	"MONDO:0100438"	"AIPL1-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:359"	"AIPL1"	"MONDO:0100438"	"AIPL1-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_594ca712-dbb5-408b-8aba-68dbfaf7f778-2023-02-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"594ca712-dbb5-408b-8aba-68dbfaf7f778"	"2024-04-21"
"GENCC_000102-HGNC_362-MONDO_0009973-HP_0000007-GENCC_100001"	"HGNC:362"	"AK2"	"MONDO:0009973"	"reticular dysgenesis"	"MONDO:0009973"	"reticular dysgenesis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:362"	"AK2"	"MONDO:0009973"	"reticular dysgenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-20 15:02:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aba98528-8032-4dd4-bd1d-5381b102323c-2021-05-20T150257.066Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aba98528-8032-4dd4-bd1d-5381b102323c"	"2024-04-21"
"GENCC_000102-HGNC_20091-MONDO_0054731-HP_0000007-GENCC_100004"	"HGNC:20091"	"AK7"	"MONDO:0054731"	"spermatogenic failure 27"	"MONDO:0054731"	"spermatogenic failure 27"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20091"	"AK7"	"MONDO:0054731"	"spermatogenic failure 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54a1d538-0afb-47b9-a7b2-e1f8b0afbcc8-2023-03-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"54a1d538-0afb-47b9-a7b2-e1f8b0afbcc8"	"2024-04-21"
"GENCC_000102-HGNC_20091-MONDO_0016575-HP_0000007-GENCC_100005"	"HGNC:20091"	"AK7"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20091"	"AK7"	"MONDO:0016575"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-03-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d34669e-fef4-49fb-97af-be7b5c6bea2d-2023-03-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d34669e-fef4-49fb-97af-be7b5c6bea2d"	"2024-04-21"
"GENCC_000102-HGNC_379-MONDO_0002442-HP_0000006-GENCC_100005"	"HGNC:379"	"AKAP9"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:379"	"AKAP9"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-12-15 00:26:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_786eac72-8014-4fdf-b279-10a5faaa09b8-2020-12-15T002607.349Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"786eac72-8014-4fdf-b279-10a5faaa09b8"	"2024-04-21"
"GENCC_000102-HGNC_393-MONDO_0100283-HP_0000006-GENCC_100001"	"HGNC:393"	"AKT3"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:393"	"AKT3"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-29 21:34:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52b1df18-387f-4c38-a655-682e4d2eb378-2021-07-29T213439.431Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"52b1df18-387f-4c38-a655-682e4d2eb378"	"2024-04-21"
"GENCC_000102-HGNC_393-MONDO_0001149-HP_0000006-GENCC_100004"	"HGNC:393"	"AKT3"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:393"	"AKT3"	"MONDO:0001149"	"microcephaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-10-26 15:00:30"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e3b524c-5d27-43d6-a0db-4f8f7cf1f872-2021-10-26T150030.155Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6e3b524c-5d27-43d6-a0db-4f8f7cf1f872"	"2024-04-21"
"GENCC_000102-HGNC_395-MONDO_0013000-HP_0000007-GENCC_100003"	"HGNC:395"	"ALAD"	"MONDO:0013000"	"porphyria due to ALA dehydratase deficiency"	"MONDO:0013000"	"porphyria due to ALA dehydratase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:395"	"ALAD"	"MONDO:0013000"	"porphyria due to ALA dehydratase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac683af-ca8d-46ab-8641-66ab9b537d16-2022-03-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0ac683af-ca8d-46ab-8641-66ab9b537d16"	"2024-04-21"
"GENCC_000102-HGNC_397-MONDO_0010420-HP_0001417-GENCC_100001"	"HGNC:397"	"ALAS2"	"MONDO:0010420"	"X-linked erythropoietic protoporphyria"	"MONDO:0010420"	"X-linked erythropoietic protoporphyria"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:397"	"ALAS2"	"MONDO:0010420"	"X-linked erythropoietic protoporphyria"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-27 18:17:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61e658f9-fdc9-4b3c-8788-80eb1ad83b0b-2022-03-27T181700.091Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"61e658f9-fdc9-4b3c-8788-80eb1ad83b0b"	"2024-04-21"
"GENCC_000102-HGNC_9722-MONDO_0100126-HP_0032113-GENCC_100001"	"HGNC:9722"	"ALDH18A1"	"MONDO:0100126"	"P5CS deficiency"	"MONDO:0100126"	"P5CS deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:9722"	"ALDH18A1"	"MONDO:0100126"	"P5CS deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-18 21:11:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bfbe962-beb3-4553-9909-a83a3aac2d55-2021-05-18T211134.377Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7bfbe962-beb3-4553-9909-a83a3aac2d55"	"2024-04-21"
"GENCC_000102-HGNC_406-MONDO_0009401-HP_0000007-GENCC_100001"	"HGNC:406"	"ALDH4A1"	"MONDO:0009401"	"hyperprolinemia type 2"	"MONDO:0009401"	"hyperprolinemia type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:406"	"ALDH4A1"	"MONDO:0009401"	"hyperprolinemia type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-23 17:16:43"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5edc3f72-31e0-47f8-bcec-e3e5b81c97ae-2020-10-23T171643.432Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5edc3f72-31e0-47f8-bcec-e3e5b81c97ae"	"2024-04-21"
"GENCC_000102-HGNC_408-MONDO_0010083-HP_0000007-GENCC_100001"	"HGNC:408"	"ALDH5A1"	"MONDO:0010083"	"succinic semialdehyde dehydrogenase deficiency"	"MONDO:0010083"	"succinic semialdehyde dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:408"	"ALDH5A1"	"MONDO:0010083"	"succinic semialdehyde dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3e57466-df2f-4045-b374-010dbd334bfc-2021-04-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c3e57466-df2f-4045-b374-010dbd334bfc"	"2024-04-21"
"GENCC_000102-HGNC_7179-MONDO_0013579-HP_0000007-GENCC_100004"	"HGNC:7179"	"ALDH6A1"	"MONDO:0013579"	"methylmalonate semialdehyde dehydrogenase deficiency"	"MONDO:0013579"	"methylmalonate semialdehyde dehydrogenase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7179"	"ALDH6A1"	"MONDO:0013579"	"methylmalonate semialdehyde dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ca1521-9336-4769-bc55-240089dab917-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"57ca1521-9336-4769-bc55-240089dab917"	"2024-04-21"
"GENCC_000102-HGNC_877-MONDO_0009945-HP_0000007-GENCC_100001"	"HGNC:877"	"ALDH7A1"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:877"	"ALDH7A1"	"MONDO:0009945"	"pyridoxine-dependent epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a982307-d8bd-43d1-b356-ef7ee6f32045-2019-07-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7a982307-d8bd-43d1-b356-ef7ee6f32045"	"2024-04-21"
"GENCC_000102-HGNC_32456-MONDO_0013349-HP_0000007-GENCC_100003"	"HGNC:32456"	"ALG11"	"MONDO:0013349"	"ALG11-congenital disorder of glycosylation"	"MONDO:0013349"	"ALG11-congenital disorder of glycosylation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:32456"	"ALG11"	"MONDO:0013349"	"ALG11-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a818528-da84-4204-baf0-88bb0ae5696e-2023-06-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3a818528-da84-4204-baf0-88bb0ae5696e"	"2024-04-21"
"GENCC_000102-HGNC_19358-MONDO_0011783-HP_0000007-GENCC_100001"	"HGNC:19358"	"ALG12"	"MONDO:0011783"	"ALG12-congenital disorder of glycosylation"	"MONDO:0011783"	"ALG12-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19358"	"ALG12"	"MONDO:0011783"	"ALG12-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-15 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21631e85-8133-4703-a77c-c046effb6e56-2023-02-15T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"21631e85-8133-4703-a77c-c046effb6e56"	"2024-04-21"
"GENCC_000102-HGNC_30881-MONDO_0100062-HP_0001417-GENCC_100001"	"HGNC:30881"	"ALG13"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:30881"	"ALG13"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f14dd634-ec5c-48cc-a375-e3cfd0c6e832-2018-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f14dd634-ec5c-48cc-a375-e3cfd0c6e832"	"2024-04-21"
"GENCC_000102-HGNC_28287-MONDO_0015286-HP_0000007-GENCC_100004"	"HGNC:28287"	"ALG14"	"MONDO:0015286"	"congenital disorder of glycosylation"	"MONDO:0015286"	"congenital disorder of glycosylation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28287"	"ALG14"	"MONDO:0015286"	"congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-02-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_809c40c4-1800-42ef-b56f-95a2c61f44ce-2024-02-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"809c40c4-1800-42ef-b56f-95a2c61f44ce"	"2024-04-21"
"GENCC_000102-HGNC_23159-MONDO_0011933-HP_0000007-GENCC_100002"	"HGNC:23159"	"ALG2"	"MONDO:0011933"	"ALG2-congenital disorder of glycosylation"	"MONDO:0011933"	"ALG2-congenital disorder of glycosylation"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23159"	"ALG2"	"MONDO:0011933"	"ALG2-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-11-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7cb8bd0-58b2-4644-a041-76f42f564fbc-2023-11-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f7cb8bd0-58b2-4644-a041-76f42f564fbc"	"2024-04-21"
"GENCC_000102-HGNC_23056-MONDO_0010998-HP_0000007-GENCC_100001"	"HGNC:23056"	"ALG3"	"MONDO:0010998"	"ALG3-congenital disorder of glycosylation"	"MONDO:0010998"	"ALG3-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23056"	"ALG3"	"MONDO:0010998"	"ALG3-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-06 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1512f6a2-f64c-49d6-ab26-44cdaeef97ee-2022-12-06T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1512f6a2-f64c-49d6-ab26-44cdaeef97ee"	"2024-04-21"
"GENCC_000102-HGNC_23157-MONDO_0011291-HP_0000007-GENCC_100001"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23157"	"ALG6"	"MONDO:0011291"	"ALG6-congenital disorder of glycosylation 1C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-11 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a243ba1-c323-4fde-a7d2-74892c6ab367-2022-11-11T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8a243ba1-c323-4fde-a7d2-74892c6ab367"	"2024-04-21"
"GENCC_000102-HGNC_23157-MONDO_0002473-HP_0000006-GENCC_100004"	"HGNC:23157"	"ALG6"	"MONDO:0002473"	"cystic kidney disease"	"MONDO:0002473"	"cystic kidney disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23157"	"ALG6"	"MONDO:0002473"	"cystic kidney disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-04-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4d62da9-8878-494e-b36b-7025fc31a428-2024-04-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b4d62da9-8878-494e-b36b-7025fc31a428"	"2024-04-21"
"GENCC_000102-HGNC_23161-MONDO_0054743-HP_0000006-GENCC_100004"	"HGNC:23161"	"ALG8"	"MONDO:0054743"	"polycystic liver disease 3 with or without kidney cysts"	"MONDO:0054743"	"polycystic liver disease 3 with or without kidney cysts"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23161"	"ALG8"	"MONDO:0054743"	"polycystic liver disease 3 with or without kidney cysts"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-07-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13259bf6-e954-4159-b247-c9685638e537-2023-07-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"13259bf6-e954-4159-b247-c9685638e537"	"2024-04-21"
"GENCC_000102-HGNC_15672-MONDO_0700000-HP_0000006-GENCC_100001"	"HGNC:15672"	"ALG9"	"MONDO:0700000"	"ALG9-associated autosomal dominant polycystic kidney disease"	"MONDO:0700000"	"ALG9-associated autosomal dominant polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15672"	"ALG9"	"MONDO:0700000"	"ALG9-associated autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38d817af-0a28-4453-a00f-ffccadbd9936-2023-09-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"38d817af-0a28-4453-a00f-ffccadbd9936"	"2024-04-21"
"GENCC_000102-HGNC_427-MONDO_0013083-HP_0000006-GENCC_100001"	"HGNC:427"	"ALK"	"MONDO:0013083"	"neuroblastoma, susceptibility to, 3"	"MONDO:0013083"	"neuroblastoma, susceptibility to, 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:427"	"ALK"	"MONDO:0013083"	"neuroblastoma, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba9f692d-9b6d-4d46-8bfa-009ec20ae538-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ba9f692d-9b6d-4d46-8bfa-009ec20ae538"	"2024-04-21"
"GENCC_000102-HGNC_428-MONDO_0008763-HP_0000007-GENCC_100001"	"HGNC:428"	"ALMS1"	"MONDO:0008763"	"Alstrom syndrome"	"MONDO:0008763"	"Alstrom syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:428"	"ALMS1"	"MONDO:0008763"	"Alstrom syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-10 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_6238"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6238"	"2024-04-21"
"GENCC_000102-HGNC_17574-MONDO_0005045-HP_0000007-GENCC_100001"	"HGNC:17574"	"ALPK3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17574"	"ALPK3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6312d79f-df12-4ec6-8ce6-0f38f19e617d-2022-02-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6312d79f-df12-4ec6-8ce6-0f38f19e617d"	"2024-04-21"
"GENCC_000102-HGNC_438-MONDO_0007798-HP_0000006-GENCC_100001"	"HGNC:438"	"ALPL"	"MONDO:0007798"	"adult hypophosphatasia"	"MONDO:0007798"	"adult hypophosphatasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:438"	"ALPL"	"MONDO:0007798"	"obsolete adult hypophosphatasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-19 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03912003-38e1-45cc-a005-099e00dd3eec-2021-05-19T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03912003-38e1-45cc-a005-099e00dd3eec"	"2024-04-21"
"GENCC_000102-HGNC_438-MONDO_0009428-HP_0000007-GENCC_100001"	"HGNC:438"	"ALPL"	"MONDO:0009428"	"childhood hypophosphatasia"	"MONDO:0009428"	"childhood hypophosphatasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:438"	"ALPL"	"MONDO:0009428"	"obsolete childhood hypophosphatasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-21 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_354366d0-a7f6-472d-a7b2-4b16f6e328ac-2019-01-21T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"354366d0-a7f6-472d-a7b2-4b16f6e328ac"	"2024-04-21"
"GENCC_000102-HGNC_438-MONDO_0009428-HP_0000006-GENCC_100001"	"HGNC:438"	"ALPL"	"MONDO:0009428"	"childhood hypophosphatasia"	"MONDO:0009428"	"childhood hypophosphatasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:438"	"ALPL"	"MONDO:0009428"	"obsolete childhood hypophosphatasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-03 08:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52e23281-c9c5-42fe-a089-2652c3b849f8-2021-03-03T080000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"52e23281-c9c5-42fe-a089-2652c3b849f8"	"2024-04-21"
"GENCC_000102-HGNC_438-MONDO_0009427-HP_0000007-GENCC_100001"	"HGNC:438"	"ALPL"	"MONDO:0009427"	"infantile hypophosphatasia"	"MONDO:0009427"	"infantile hypophosphatasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:438"	"ALPL"	"MONDO:0009427"	"obsolete infantile hypophosphatasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-02 20:54:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64fd43a0-1c7d-4f34-906c-570d800492bc-2021-06-02T205406.157Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"64fd43a0-1c7d-4f34-906c-570d800492bc"	"2024-04-21"
"GENCC_000102-HGNC_443-MONDO_0100227-HP_0000007-GENCC_100001"	"HGNC:443"	"ALS2"	"MONDO:0100227"	"ALS2-related motor neuron disease"	"MONDO:0100227"	"ALS2-related motor neuron disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:443"	"ALS2"	"MONDO:0100227"	"ALS2-related motor neuron disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b31dd10c-0b38-4edf-8e23-fb2652c6e939-2023-02-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b31dd10c-0b38-4edf-8e23-fb2652c6e939"	"2024-04-21"
"GENCC_000102-HGNC_1494-MONDO_0013271-HP_0000007-GENCC_100001"	"HGNC:1494"	"ALX1"	"MONDO:0013271"	"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	"MONDO:0013271"	"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1494"	"ALX1"	"MONDO:0013271"	"frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ade0e1d8-3f68-4276-bc1d-173ca2d4936f-2022-10-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ade0e1d8-3f68-4276-bc1d-173ca2d4936f"	"2024-04-21"
"GENCC_000102-HGNC_449-MONDO_0007636-HP_0000007-GENCC_100001"	"HGNC:449"	"ALX3"	"MONDO:0007636"	"frontorhiny"	"MONDO:0007636"	"frontorhiny"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:449"	"ALX3"	"MONDO:0007636"	"frontorhiny"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b460912-d5fd-4b7b-99da-ccd477fd8139-2022-10-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1b460912-d5fd-4b7b-99da-ccd477fd8139"	"2024-04-21"
"GENCC_000102-HGNC_451-MONDO_0013681-HP_0000007-GENCC_100003"	"HGNC:451"	"AMACR"	"MONDO:0013681"	"alpha-methylacyl-CoA racemase deficiency"	"MONDO:0013681"	"alpha-methylacyl-CoA racemase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:451"	"AMACR"	"MONDO:0013681"	"alpha-methylacyl-CoA racemase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-31 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fb8a3ea-cf06-4788-841f-e787f3780a49-2022-03-31T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3fb8a3ea-cf06-4788-841f-e787f3780a49"	"2024-04-21"
"GENCC_000102-HGNC_26837-MONDO_0010310-HP_0001417-GENCC_100001"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:26837"	"AMER1"	"MONDO:0010310"	"osteopathia striata with cranial sclerosis"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0c6c307-2d6c-4893-8f52-5fc6a2e2d440-2024-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a0c6c307-2d6c-4893-8f52-5fc6a2e2d440"	"2024-04-21"
"GENCC_000102-HGNC_473-MONDO_0011612-HP_0000007-GENCC_100001"	"HGNC:473"	"AMT"	"MONDO:0011612"	"glycine encephalopathy"	"MONDO:0011612"	"glycine encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:473"	"AMT"	"MONDO:0011612"	"glycine encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a85e1b07-b975-4c92-b592-7b3e8d35805a-2019-05-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a85e1b07-b975-4c92-b592-7b3e8d35805a"	"2024-04-21"
"GENCC_000102-HGNC_483-MONDO_0012753-HP_0000006-GENCC_100004"	"HGNC:483"	"ANG"	"MONDO:0012753"	"amyotrophic lateral sclerosis type 9"	"MONDO:0012753"	"amyotrophic lateral sclerosis type 9"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:483"	"ANG"	"MONDO:0012753"	"amyotrophic lateral sclerosis type 9"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-02-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ee17299-56dd-40a7-8cec-9a316f3e46f2-2022-02-08T000000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4ee17299-56dd-40a7-8cec-9a316f3e46f2"	"2024-04-21"
"GENCC_000102-HGNC_484-MONDO_0000365-HP_0000006-GENCC_100004"	"HGNC:484"	"ANGPT1"	"MONDO:0000365"	"primary congenital glaucoma"	"MONDO:0000365"	"primary congenital glaucoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:484"	"ANGPT1"	"MONDO:0000365"	"primary congenital glaucoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-02-15 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62aef3ff-a230-4b1e-88d8-8097c9975031-2024-02-15T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"62aef3ff-a230-4b1e-88d8-8097c9975031"	"2024-04-21"
"GENCC_000102-HGNC_491-MONDO_0011505-HP_0000007-GENCC_100001"	"HGNC:491"	"ANGPTL3"	"MONDO:0011505"	"familial hypobetalipoproteinemia 2"	"MONDO:0011505"	"familial hypobetalipoproteinemia 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:491"	"ANGPTL3"	"MONDO:0011505"	"familial hypobetalipoproteinemia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df7eb35c-09a3-4df2-bf05-22aee7de3855-2022-09-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"df7eb35c-09a3-4df2-bf05-22aee7de3855"	"2024-04-21"
"GENCC_000102-HGNC_492-MONDO_0019350-HP_0000007-GENCC_100004"	"HGNC:492"	"ANK1"	"MONDO:0019350"	"hereditary spherocytosis"	"MONDO:0019350"	"hereditary spherocytosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:492"	"ANK1"	"MONDO:0019350"	"hereditary spherocytosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55457b0b-370e-466d-b2da-1cb8d67aecc8-2021-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"55457b0b-370e-466d-b2da-1cb8d67aecc8"	"2024-04-21"
"GENCC_000102-HGNC_492-MONDO_0019350-HP_0000006-GENCC_100001"	"HGNC:492"	"ANK1"	"MONDO:0019350"	"hereditary spherocytosis"	"MONDO:0019350"	"hereditary spherocytosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:492"	"ANK1"	"MONDO:0019350"	"hereditary spherocytosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82460b48-c4a5-4496-92ce-6fbad632d6d7-2021-03-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82460b48-c4a5-4496-92ce-6fbad632d6d7"	"2024-04-21"
"GENCC_000102-HGNC_493-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:493"	"ANK2"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:493"	"ANK2"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10145"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10145"	"2024-04-21"
"GENCC_000102-HGNC_493-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:493"	"ANK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:493"	"ANK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-15 17:52:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_097e646b-467f-4c08-95d6-958ed324562b-2020-12-15T175241.108Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"097e646b-467f-4c08-95d6-958ed324562b"	"2024-04-21"
"GENCC_000102-HGNC_493-MONDO_0017990-HP_0000006-GENCC_100005"	"HGNC:493"	"ANK2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:493"	"ANK2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7e5e43e-1596-4c15-bf14-e9388b204e88-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c7e5e43e-1596-4c15-bf14-e9388b204e88"	"2024-04-21"
"GENCC_000102-HGNC_493-MONDO_0002442-HP_0000006-GENCC_100005"	"HGNC:493"	"ANK2"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:493"	"ANK2"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-12-15 00:27:19"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd577817-d668-413c-95f9-d3e08a8cf5d3-2020-12-15T002719.834Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dd577817-d668-413c-95f9-d3e08a8cf5d3"	"2024-04-21"
"GENCC_000102-HGNC_494-MONDO_0001071-HP_0000007-GENCC_100003"	"HGNC:494"	"ANK3"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:494"	"ANK3"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-10-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_668a89e3-477d-434c-8ab4-0bc9ec3504de-2020-10-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"668a89e3-477d-434c-8ab4-0bc9ec3504de"	"2024-04-21"
"GENCC_000102-HGNC_15819-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:15819"	"ANKRD1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15819"	"ANKRD1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dcc6918-d7e7-4385-b343-bc8b8678b3a4-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3dcc6918-d7e7-4385-b343-bc8b8678b3a4"	"2024-04-21"
"GENCC_000102-HGNC_15819-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:15819"	"ANKRD1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15819"	"ANKRD1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f241e6c-2fc8-4f23-b976-3b79d90fad3e-2023-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8f241e6c-2fc8-4f23-b976-3b79d90fad3e"	"2024-04-21"
"GENCC_000102-HGNC_21316-MONDO_0007846-HP_0000006-GENCC_100001"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG syndrome"	"MONDO:0007846"	"KBG syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21316"	"ANKRD11"	"MONDO:0007846"	"KBG syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf3e887e-8da4-45ea-bec8-9565f8246bc9-2019-11-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cf3e887e-8da4-45ea-bec8-9565f8246bc9"	"2024-04-21"
"GENCC_000102-HGNC_23575-MONDO_0000508-HP_0000006-GENCC_100002"	"HGNC:23575"	"ANKRD17"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23575"	"ANKRD17"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-03-09 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48a9765c-f7ae-46f4-aa6f-7fa95f81404f-2023-03-09T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"48a9765c-f7ae-46f4-aa6f-7fa95f81404f"	"2024-04-21"
"GENCC_000102-HGNC_29186-MONDO_0008555-HP_0000006-GENCC_100001"	"HGNC:29186"	"ANKRD26"	"MONDO:0008555"	"thrombocytopenia 2"	"MONDO:0008555"	"thrombocytopenia 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29186"	"ANKRD26"	"MONDO:0008555"	"thrombocytopenia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e86bee2b-8353-48c2-8ea3-a6b2b26cdb2f-2019-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e86bee2b-8353-48c2-8ea3-a6b2b26cdb2f"	"2024-04-21"
"GENCC_000102-HGNC_26724-MONDO_0014158-HP_0000007-GENCC_100001"	"HGNC:26724"	"ANKS6"	"MONDO:0014158"	"nephronophthisis 16"	"MONDO:0014158"	"nephronophthisis 16"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26724"	"ANKS6"	"MONDO:0014158"	"nephronophthisis 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62df8a40-0b65-46a4-89c8-51f26424c523-2021-08-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"62df8a40-0b65-46a4-89c8-51f26424c523"	"2024-04-21"
"GENCC_000102-HGNC_27337-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:27337"	"ANO5"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:27337"	"ANO5"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-09 12:02:14"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cecfa828-c192-44ae-9f3f-9dd5a99a5e5a-2020-09-09T120214.822Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cecfa828-c192-44ae-9f3f-9dd5a99a5e5a"	"2024-04-21"
"GENCC_000102-HGNC_25240-MONDO_0009885-HP_0000007-GENCC_100003"	"HGNC:25240"	"ANO6"	"MONDO:0009885"	"Scott syndrome"	"MONDO:0009885"	"Scott syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25240"	"ANO6"	"MONDO:0009885"	"Scott syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2d3c125-1938-4295-82bb-b2851a3b2c8d-2022-06-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c2d3c125-1938-4295-82bb-b2851a3b2c8d"	"2024-04-21"
"GENCC_000102-HGNC_6211-MONDO_0010635-HP_0001417-GENCC_100001"	"HGNC:6211"	"ANOS1"	"MONDO:0010635"	"hypogonadotropic hypogonadism 1 with or without anosmia"	"MONDO:0010635"	"hypogonadotropic hypogonadism 1 with or without anosmia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:6211"	"ANOS1"	"MONDO:0010635"	"hypogonadotropic hypogonadism 1 with or without anosmia"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-17 22:31:52"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b7650b6-f2b6-4ac3-a967-3e631c98d7b1-2022-05-17T223152.758Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2b7650b6-f2b6-4ac3-a967-3e631c98d7b1"	"2024-04-21"
"GENCC_000102-HGNC_21732-MONDO_0009229-HP_0000007-GENCC_100001"	"HGNC:21732"	"ANTXR2"	"MONDO:0009229"	"hyaline fibromatosis syndrome"	"MONDO:0009229"	"hyaline fibromatosis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21732"	"ANTXR2"	"MONDO:0009229"	"hyaline fibromatosis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0368b332-6765-451e-867b-71dd93e05ae4-2022-11-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0368b332-6765-451e-867b-71dd93e05ae4"	"2024-04-21"
"GENCC_000102-HGNC_535-MONDO_0027694-HP_0000006-GENCC_100001"	"HGNC:535"	"ANXA11"	"MONDO:0027694"	"amyotrophic lateral sclerosis type 23"	"MONDO:0027694"	"amyotrophic lateral sclerosis type 23"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:535"	"ANXA11"	"MONDO:0027694"	"amyotrophic lateral sclerosis type 23"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-12 21:59:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4dca2f56-87c6-4ac7-97bf-0889883b8e63-2021-11-12T215939.032Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4dca2f56-87c6-4ac7-97bf-0889883b8e63"	"2024-04-21"
"GENCC_000102-HGNC_555-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:555"	"AP1G1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:555"	"AP1G1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-11-02 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3519527-9a80-4f0e-9ea6-c4244eb2ee33-2022-11-02T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b3519527-9a80-4f0e-9ea6-c4244eb2ee33"	"2024-04-21"
"GENCC_000102-HGNC_555-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:555"	"AP1G1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:555"	"AP1G1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-02 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d636cccc-aa9c-4927-ae40-538bf34d0620-2022-11-02T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d636cccc-aa9c-4927-ae40-538bf34d0620"	"2024-04-21"
"GENCC_000102-HGNC_559-MONDO_0012251-HP_0000007-GENCC_100001"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"MONDO:0012251"	"MEDNIK syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:559"	"AP1S1"	"MONDO:0012251"	"MEDNIK syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9559de4-1945-47fa-bea5-336d376eec0e-2022-06-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b9559de4-1945-47fa-bea5-336d376eec0e"	"2024-04-21"
"GENCC_000102-HGNC_560-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:560"	"AP1S2"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:560"	"AP1S2"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9caaaacd-e262-421c-826b-8433848721ff-2017-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9caaaacd-e262-421c-826b-8433848721ff"	"2024-04-21"
"GENCC_000102-HGNC_566-MONDO_0011997-HP_0000007-GENCC_100001"	"HGNC:566"	"AP3B1"	"MONDO:0011997"	"Hermansky-Pudlak syndrome 2"	"MONDO:0011997"	"Hermansky-Pudlak syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:566"	"AP3B1"	"MONDO:0011997"	"Hermansky-Pudlak syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00ce813c-9493-48f9-9351-b70defb71d75-2020-02-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"00ce813c-9493-48f9-9351-b70defb71d75"	"2024-04-21"
"GENCC_000102-HGNC_568-MONDO_0014885-HP_0000007-GENCC_100003"	"HGNC:568"	"AP3D1"	"MONDO:0014885"	"Hermansky-Pudlak syndrome 10"	"MONDO:0014885"	"Hermansky-Pudlak syndrome 10"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:568"	"AP3D1"	"MONDO:0014885"	"Hermansky-Pudlak syndrome 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec9ffa2-efda-446d-a848-e6d4d5b92fb6-2023-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ec9ffa2-efda-446d-a848-e6d4d5b92fb6"	"2024-04-21"
"GENCC_000102-HGNC_572-MONDO_0100176-HP_0000007-GENCC_100001"	"HGNC:572"	"AP4B1"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:572"	"AP4B1"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4436344a-e0da-4c42-b06a-cdf8a2581ce5-2021-07-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4436344a-e0da-4c42-b06a-cdf8a2581ce5"	"2024-04-21"
"GENCC_000102-HGNC_573-MONDO_0100176-HP_0000007-GENCC_100001"	"HGNC:573"	"AP4E1"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:573"	"AP4E1"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-18 15:50:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be93d2e7-f302-41a7-9675-032510e46ad2-2021-02-18T155050.880Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"be93d2e7-f302-41a7-9675-032510e46ad2"	"2024-04-21"
"GENCC_000102-HGNC_574-MONDO_0100176-HP_0000007-GENCC_100001"	"HGNC:574"	"AP4M1"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:574"	"AP4M1"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f49be3e4-4e1f-478b-b4e0-f41623e5b548-2021-04-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f49be3e4-4e1f-478b-b4e0-f41623e5b548"	"2024-04-21"
"GENCC_000102-HGNC_575-MONDO_0100176-HP_0000007-GENCC_100001"	"HGNC:575"	"AP4S1"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:575"	"AP4S1"	"MONDO:0100176"	"AP-4 deficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_652e2cbe-22aa-4cd4-ba41-5bacca69af13-2023-04-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"652e2cbe-22aa-4cd4-ba41-5bacca69af13"	"2024-04-21"
"GENCC_000102-HGNC_22197-MONDO_0019064-HP_0000007-GENCC_100001"	"HGNC:22197"	"AP5Z1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:22197"	"AP5Z1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_020a234e-180c-4d9f-8f04-bd79eac6046e-2022-09-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"020a234e-180c-4d9f-8f04-bd79eac6046e"	"2024-04-21"
"GENCC_000102-HGNC_583-MONDO_0017790-HP_0000006-GENCC_100001"	"HGNC:583"	"APC"	"MONDO:0017790"	"gastric adenocarcinoma and proximal polyposis of the stomach"	"MONDO:0017790"	"gastric adenocarcinoma and proximal polyposis of the stomach"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:583"	"APC"	"MONDO:0017790"	"gastric adenocarcinoma and proximal polyposis of the stomach"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22036d0d-71a8-4824-894b-0de40c412e15-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"22036d0d-71a8-4824-894b-0de40c412e15"	"2024-04-21"
"GENCC_000102-HGNC_583-MONDO_0021057-HP_0000006-GENCC_100001"	"HGNC:583"	"APC"	"MONDO:0021057"	"classic or attenuated familial adenomatous polyposis"	"MONDO:0021057"	"classic or attenuated familial adenomatous polyposis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:583"	"APC"	"MONDO:0021057"	"classic or attenuated familial adenomatous polyposis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdf062b6-6abf-49f6-a2dc-43b0e535f1b6-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cdf062b6-6abf-49f6-a2dc-43b0e535f1b6"	"2024-04-21"
"GENCC_000102-HGNC_24036-MONDO_0018838-HP_0000007-GENCC_100002"	"HGNC:24036"	"APC2"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24036"	"APC2"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-10-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fd2851a-bba3-47eb-a97c-e8bf51ec6766-2022-10-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4fd2851a-bba3-47eb-a97c-e8bf51ec6766"	"2024-04-21"
"GENCC_000102-HGNC_603-MONDO_0007751-HP_0000006-GENCC_100001"	"HGNC:603"	"APOB"	"MONDO:0007751"	"hypercholesterolemia, autosomal dominant, type B"	"MONDO:0007751"	"hypercholesterolemia, autosomal dominant, type B"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:603"	"APOB"	"MONDO:0007751"	"hypercholesterolemia, autosomal dominant, type B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-14 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c26b83b-409e-47c7-9c53-6ca79472d6fc-2018-11-14T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1c26b83b-409e-47c7-9c53-6ca79472d6fc"	"2024-04-21"
"GENCC_000102-HGNC_603-MONDO_0014252-HP_0032113-GENCC_100001"	"HGNC:603"	"APOB"	"MONDO:0014252"	"familial hypobetalipoproteinemia 1"	"MONDO:0014252"	"familial hypobetalipoproteinemia 1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:603"	"APOB"	"MONDO:0014252"	"familial hypobetalipoproteinemia 1"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7382aae-83d5-4a23-b1fe-e3d6acea8584-2020-02-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e7382aae-83d5-4a23-b1fe-e3d6acea8584"	"2024-04-21"
"GENCC_000102-HGNC_618-MONDO_0012931-HP_0000007-GENCC_100001"	"HGNC:618"	"APOL1"	"MONDO:0012931"	"focal segmental glomerulosclerosis 4, susceptibility to"	"MONDO:0012931"	"focal segmental glomerulosclerosis 4, susceptibility to"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:618"	"APOL1"	"MONDO:0012931"	"focal segmental glomerulosclerosis 4, susceptibility to"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-28 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47d0f13d-5122-4762-82c9-08db3ba104d1-2021-09-28T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"47d0f13d-5122-4762-82c9-08db3ba104d1"	"2024-04-21"
"GENCC_000102-HGNC_24035-MONDO_0015967-HP_0000006-GENCC_100004"	"HGNC:24035"	"APPL1"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24035"	"APPL1"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e2bc680-f1d4-4b65-baaa-22b4ff22b56e-2021-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5e2bc680-f1d4-4b65-baaa-22b4ff22b56e"	"2024-04-21"
"GENCC_000102-HGNC_633-MONDO_0015924-HP_0000006-GENCC_100004"	"HGNC:633"	"AQP1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:633"	"AQP1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-01-11 14:55:19"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29eda804-13df-4fe9-bbb3-9494b11edc92-2021-01-11T145519.495Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29eda804-13df-4fe9-bbb3-9494b11edc92"	"2024-04-21"
"GENCC_000102-HGNC_644-MONDO_0010735-HP_0001417-GENCC_100001"	"HGNC:644"	"AR"	"MONDO:0010735"	"Kennedy disease"	"MONDO:0010735"	"Kennedy disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:644"	"AR"	"MONDO:0010735"	"Kennedy disease"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-08 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a05eab29-c7e9-4b2a-9378-ac384962b69c-2023-08-08T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a05eab29-c7e9-4b2a-9378-ac384962b69c"	"2024-04-21"
"GENCC_000102-HGNC_15853-MONDO_0011966-HP_0000007-GENCC_100002"	"HGNC:15853"	"ARFGEF2"	"MONDO:0011966"	"periventricular heterotopia with microcephaly, autosomal recessive"	"MONDO:0011966"	"periventricular heterotopia with microcephaly, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15853"	"ARFGEF2"	"MONDO:0011966"	"periventricular heterotopia with microcephaly, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2024-03-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_814507e0-e6cd-4bce-a4c6-4d1caa61cfc3-2024-03-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"814507e0-e6cd-4bce-a4c6-4d1caa61cfc3"	"2024-04-21"
"GENCC_000102-HGNC_663-MONDO_0008814-HP_0000007-GENCC_100001"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"hyperargininemia"	"MONDO:0008814"	"hyperargininemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:663"	"ARG1"	"MONDO:0008814"	"hyperargininemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:41:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0157f793-9232-4700-bbf0-dfb16270f688-2020-06-29T174101.533Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0157f793-9232-4700-bbf0-dfb16270f688"	"2024-04-21"
"GENCC_000102-HGNC_681-MONDO_0032763-HP_0000007-GENCC_100004"	"HGNC:681"	"ARHGEF1"	"MONDO:0032763"	"immunodeficiency 62"	"MONDO:0032763"	"immunodeficiency 62"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:681"	"ARHGEF1"	"MONDO:0032763"	"immunodeficiency 62"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-01-19 21:47:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9547c192-135d-48b3-a1c0-2eca5e2608c5-2021-01-19T214711.722Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9547c192-135d-48b3-a1c0-2eca5e2608c5"	"2024-04-21"
"GENCC_000102-HGNC_14103-MONDO_0011998-HP_0000006-GENCC_100004"	"HGNC:14103"	"ARHGEF10"	"MONDO:0011998"	"autosomal dominant slowed nerve conduction velocity"	"MONDO:0011998"	"autosomal dominant slowed nerve conduction velocity"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14103"	"ARHGEF10"	"MONDO:0011998"	"autosomal dominant slowed nerve conduction velocity"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-10-05 16:04:23"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23121f9-57e1-48ac-a2bc-d5a293829530-2020-10-05T160423.090Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b23121f9-57e1-48ac-a2bc-d5a293829530"	"2024-04-21"
"GENCC_000102-HGNC_685-MONDO_0019181-HP_0001417-GENCC_100005"	"HGNC:685"	"ARHGEF6"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:685"	"ARHGEF6"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d248ef99-6ff8-43d8-a24e-dfce6b2db1c8-2020-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d248ef99-6ff8-43d8-a24e-dfce6b2db1c8"	"2024-04-21"
"GENCC_000102-HGNC_14561-MONDO_0100148-HP_0001417-GENCC_100003"	"HGNC:14561"	"ARHGEF9"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:14561"	"ARHGEF9"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9305fb2c-6cdf-492d-9dd0-8b03dd4fab1c-2019-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9305fb2c-6cdf-492d-9dd0-8b03dd4fab1c"	"2024-04-21"
"GENCC_000102-HGNC_11110-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:11110"	"ARID1A"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11110"	"ARID1A"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aaf6d47a-656a-49ca-ba9e-169f25bf03e7-2021-07-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aaf6d47a-656a-49ca-ba9e-169f25bf03e7"	"2024-04-21"
"GENCC_000102-HGNC_18040-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:18040"	"ARID1B"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18040"	"ARID1B"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-12-04 20:07:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d487e6c4-9727-4315-90a2-11338128a8e5-2019-12-04T200734.569Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d487e6c4-9727-4315-90a2-11338128a8e5"	"2024-04-21"
"GENCC_000102-HGNC_18037-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:18037"	"ARID2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18037"	"ARID2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae1a697f-8dcd-4edf-a25b-e5e0593e7e61-2022-12-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ae1a697f-8dcd-4edf-a25b-e5e0593e7e61"	"2024-04-21"
"GENCC_000102-HGNC_25419-MONDO_0018772-HP_0000007-GENCC_100001"	"HGNC:25419"	"ARL13B"	"MONDO:0018772"	"Joubert syndrome"	"MONDO:0018772"	"Joubert syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25419"	"ARL13B"	"MONDO:0018772"	"Joubert syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-03 21:01:14"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6c474c9-4035-498c-a902-03be50d36205-2020-06-03T210114.719Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f6c474c9-4035-498c-a902-03be50d36205"	"2024-04-21"
"GENCC_000102-HGNC_17146-MONDO_0014186-HP_0000007-GENCC_100004"	"HGNC:17146"	"ARL2BP"	"MONDO:0014186"	"retinitis pigmentosa with or without situs inversus"	"MONDO:0014186"	"retinitis pigmentosa with or without situs inversus"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17146"	"ARL2BP"	"MONDO:0014186"	"retinitis pigmentosa with or without situs inversus"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-11-08 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afe2baae-73d8-4f77-a106-a9163dbde4ce-2017-11-08T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afe2baae-73d8-4f77-a106-a9163dbde4ce"	"2024-04-21"
"GENCC_000102-HGNC_697-MONDO_0019064-HP_0000007-GENCC_100001"	"HGNC:697"	"ARL6IP1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:697"	"ARL6IP1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-17 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58275699-f116-4243-83da-72f751753837-2022-10-17T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"58275699-f116-4243-83da-72f751753837"	"2024-04-21"
"GENCC_000102-HGNC_23045-MONDO_0032748-HP_0000007-GENCC_100001"	"HGNC:23045"	"ARMC2"	"MONDO:0032748"	"spermatogenic failure 38"	"MONDO:0032748"	"spermatogenic failure 38"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23045"	"ARMC2"	"MONDO:0032748"	"spermatogenic failure 38"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef0ad23-4568-4ef7-94e9-557981bfbe6c-2023-05-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aef0ad23-4568-4ef7-94e9-557981bfbe6c"	"2024-04-21"
"GENCC_000102-HGNC_20730-MONDO_0033308-HP_0000007-GENCC_100001"	"HGNC:20730"	"ARMC9"	"MONDO:0033308"	"Joubert syndrome 30"	"MONDO:0033308"	"Joubert syndrome 30"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20730"	"ARMC9"	"MONDO:0033308"	"Joubert syndrome 30"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_77d8b454-195d-463c-b043-fc068392a23b-2023-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"77d8b454-195d-463c-b043-fc068392a23b"	"2024-04-21"
"GENCC_000102-HGNC_704-MONDO_0060583-HP_0000007-GENCC_100001"	"HGNC:704"	"ARPC1B"	"MONDO:0060583"	"platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"	"MONDO:0060583"	"platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:704"	"ARPC1B"	"MONDO:0060583"	"platelet abnormalities with eosinophilia and immune-mediated inflammatory disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13909f11-a592-41cc-ade9-c77a5b49b253-2020-07-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"13909f11-a592-41cc-ade9-c77a5b49b253"	"2024-04-21"
"GENCC_000102-HGNC_16968-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:16968"	"ARPP21"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16968"	"ARPP21"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02d4089a-94dd-42b6-ab09-dc258db00ae9-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"02d4089a-94dd-42b6-ab09-dc258db00ae9"	"2024-04-21"
"GENCC_000102-HGNC_713-MONDO_0018868-HP_0000007-GENCC_100001"	"HGNC:713"	"ARSA"	"MONDO:0018868"	"metachromatic leukodystrophy"	"MONDO:0018868"	"metachromatic leukodystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:713"	"ARSA"	"MONDO:0018868"	"metachromatic leukodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8d351d5-5158-4cc2-b4dd-d3179b53e2a4-2023-06-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a8d351d5-5158-4cc2-b4dd-d3179b53e2a4"	"2024-04-21"
"GENCC_000102-HGNC_714-MONDO_0009661-HP_0000007-GENCC_100001"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:714"	"ARSB"	"MONDO:0009661"	"mucopolysaccharidosis type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a850717-e21b-495d-8542-de4fdb142647-2022-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2a850717-e21b-495d-8542-de4fdb142647"	"2024-04-21"
"GENCC_000102-HGNC_719-MONDO_0010555-HP_0001417-GENCC_100001"	"HGNC:719"	"ARSL"	"MONDO:0010555"	"X-linked chondrodysplasia punctata 1"	"MONDO:0010555"	"X-linked chondrodysplasia punctata 1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:719"	"ARSL"	"MONDO:0010555"	"X-linked chondrodysplasia punctata 1"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c48d88b-d100-4203-8abf-03f3199bf3e0-2023-08-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2c48d88b-d100-4203-8abf-03f3199bf3e0"	"2024-04-21"
"GENCC_000102-HGNC_18060-MONDO_0100062-HP_0001417-GENCC_100001"	"HGNC:18060"	"ARX"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:18060"	"ARX"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5357ce-2161-4a7f-a8e1-a1dba4550e57-2019-06-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3a5357ce-2161-4a7f-a8e1-a1dba4550e57"	"2024-04-21"
"GENCC_000102-HGNC_18060-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:18060"	"ARX"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:18060"	"ARX"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccf3ab49-ee8f-4980-aa04-ca13c21c124a-2020-12-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ccf3ab49-ee8f-4980-aa04-ca13c21c124a"	"2024-04-21"
"GENCC_000102-HGNC_735-MONDO_0100524-HP_0000007-GENCC_100001"	"HGNC:735"	"ASAH1"	"MONDO:0100524"	"ASAH1-related sphingolipidosis"	"MONDO:0100524"	"ASAH1-related sphingolipidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:735"	"ASAH1"	"MONDO:0100524"	"ASAH1-related sphingolipidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7d25555-4d27-4fd4-8619-cdf78b50701a-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d7d25555-4d27-4fd4-8619-cdf78b50701a"	"2024-04-21"
"GENCC_000102-HGNC_17185-MONDO_0011311-HP_0000006-GENCC_100004"	"HGNC:17185"	"ASB10"	"MONDO:0011311"	"glaucoma 1, open angle, F"	"MONDO:0011311"	"glaucoma 1, open angle, F"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17185"	"ASB10"	"MONDO:0011311"	"obsolete glaucoma 1, open angle, F"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac9aa333-15d1-404d-85e1-a3d6e759dc0b-2023-03-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac9aa333-15d1-404d-85e1-a3d6e759dc0b"	"2024-04-21"
"GENCC_000102-HGNC_19088-MONDO_0800439-HP_0000006-GENCC_100001"	"HGNC:19088"	"ASH1L"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19088"	"ASH1L"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-23 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41052ba5-878d-4e64-8ef2-ed65887a1345-2023-02-23T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41052ba5-878d-4e64-8ef2-ed65887a1345"	"2024-04-21"
"GENCC_000102-HGNC_746-MONDO_0008815-HP_0000007-GENCC_100001"	"HGNC:746"	"ASL"	"MONDO:0008815"	"argininosuccinic aciduria"	"MONDO:0008815"	"argininosuccinic aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:746"	"ASL"	"MONDO:0008815"	"argininosuccinic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c16021b9-f6db-4e41-90f3-4786d63a1fa3-2018-09-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c16021b9-f6db-4e41-90f3-4786d63a1fa3"	"2024-04-21"
"GENCC_000102-HGNC_753-MONDO_0014258-HP_0000007-GENCC_100001"	"HGNC:753"	"ASNS"	"MONDO:0014258"	"congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"	"MONDO:0014258"	"congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:753"	"ASNS"	"MONDO:0014258"	"congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:44:49"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1cea57d-fe02-469e-8c52-a383c3f5a0c6-2020-06-29T174449.301Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e1cea57d-fe02-469e-8c52-a383c3f5a0c6"	"2024-04-21"
"GENCC_000102-HGNC_756-MONDO_0010079-HP_0000007-GENCC_100001"	"HGNC:756"	"ASPA"	"MONDO:0010079"	"Canavan disease"	"MONDO:0010079"	"Canavan disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:756"	"ASPA"	"MONDO:0010079"	"Canavan disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-08 16:17:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66306eff-659f-4508-a41b-1820e47e0e1d-2020-10-08T161701.633Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"66306eff-659f-4508-a41b-1820e47e0e1d"	"2024-04-21"
"GENCC_000102-HGNC_19048-MONDO_0016660-HP_0000007-GENCC_100002"	"HGNC:19048"	"ASPM"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19048"	"ASPM"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2024-03-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41e82e1a-528f-48ee-9e07-22865077f61d-2024-03-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41e82e1a-528f-48ee-9e07-22865077f61d"	"2024-04-21"
"GENCC_000102-HGNC_758-MONDO_0008988-HP_0000007-GENCC_100001"	"HGNC:758"	"ASS1"	"MONDO:0008988"	"citrullinemia type I"	"MONDO:0008988"	"citrullinemia type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:758"	"ASS1"	"MONDO:0008988"	"citrullinemia type I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dc5ef32-81ca-478e-be42-436da3416e4d-2018-12-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5dc5ef32-81ca-478e-be42-436da3416e4d"	"2024-04-21"
"GENCC_000102-HGNC_18318-MONDO_0011510-HP_0000006-GENCC_100001"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18318"	"ASXL1"	"MONDO:0011510"	"Bohring-Opitz syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31e0ce4d-aeb7-4983-9ec2-85178d7f40f0-2021-07-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"31e0ce4d-aeb7-4983-9ec2-85178d7f40f0"	"2024-04-21"
"GENCC_000102-HGNC_23805-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:23805"	"ASXL2"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23805"	"ASXL2"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-28 11:54:43"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cedd313e-b43b-4212-840b-7d4172258b16-2021-09-28T115443.696Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cedd313e-b43b-4212-840b-7d4172258b16"	"2024-04-21"
"GENCC_000102-HGNC_29357-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:29357"	"ASXL3"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29357"	"ASXL3"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-06 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_947933aa-f0f8-4909-abd8-2984dd11dcb8-2021-10-06T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"947933aa-f0f8-4909-abd8-2984dd11dcb8"	"2024-04-21"
"GENCC_000102-HGNC_779-MONDO_0000437-HP_0000007-GENCC_100001"	"HGNC:779"	"ATCAY"	"MONDO:0000437"	"cerebellar ataxia"	"MONDO:0000437"	"cerebellar ataxia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:779"	"ATCAY"	"MONDO:0000437"	"cerebellar ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcbe54f9-71d2-4aac-b240-e84e78b67b76-2023-02-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bcbe54f9-71d2-4aac-b240-e84e78b67b76"	"2024-04-21"
"GENCC_000102-HGNC_782-MONDO_0005453-HP_0000007-GENCC_100005"	"HGNC:782"	"ATE1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:782"	"ATE1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-08-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_091bbd85-831a-4628-92f4-b2487d837eb6-2023-08-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"091bbd85-831a-4628-92f4-b2487d837eb6"	"2024-04-21"
"GENCC_000102-HGNC_791-MONDO_0018852-HP_0000007-GENCC_100002"	"HGNC:791"	"ATF6"	"MONDO:0018852"	"achromatopsia"	"MONDO:0018852"	"achromatopsia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:791"	"ATF6"	"MONDO:0018852"	"achromatopsia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2016-11-16 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4842"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4842"	"2024-04-21"
"GENCC_000102-HGNC_791-MONDO_0100447-HP_0000007-GENCC_100001"	"HGNC:791"	"ATF6"	"MONDO:0100447"	"ATF6-related retinopathy"	"MONDO:0100447"	"ATF6-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:791"	"ATF6"	"MONDO:0100447"	"ATF6-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_649d690a-8457-4c95-8d27-978daf4ac877-2021-10-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"649d690a-8457-4c95-8d27-978daf4ac877"	"2024-04-21"
"GENCC_000102-HGNC_589-MONDO_0033115-HP_0000007-GENCC_100004"	"HGNC:589"	"ATG5"	"MONDO:0033115"	"spinocerebellar ataxia, autosomal recessive 25"	"MONDO:0033115"	"spinocerebellar ataxia, autosomal recessive 25"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:589"	"ATG5"	"MONDO:0033115"	"spinocerebellar ataxia, autosomal recessive 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-07-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b47796b8-3811-4411-b0f0-5b703755f08b-2022-07-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b47796b8-3811-4411-b0f0-5b703755f08b"	"2024-04-21"
"GENCC_000102-HGNC_16935-MONDO_0030323-HP_0000007-GENCC_100002"	"HGNC:16935"	"ATG7"	"MONDO:0030323"	"spinocerebellar ataxia, autosomal recessive 31"	"MONDO:0030323"	"spinocerebellar ataxia, autosomal recessive 31"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16935"	"ATG7"	"MONDO:0030323"	"spinocerebellar ataxia, autosomal recessive 31"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-09-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bfee65a8-cbc9-4f1a-a4f7-5973ecff593d-2022-09-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bfee65a8-cbc9-4f1a-a4f7-5973ecff593d"	"2024-04-21"
"GENCC_000102-HGNC_11231-MONDO_0013381-HP_0000006-GENCC_100001"	"HGNC:11231"	"ATL1"	"MONDO:0013381"	"neuropathy, hereditary sensory, type 1D"	"MONDO:0013381"	"neuropathy, hereditary sensory, type 1D"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11231"	"ATL1"	"MONDO:0013381"	"neuropathy, hereditary sensory, type 1D"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-10 02:08:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c0282d1-5ab4-4a86-b1f6-165a3dbd515a-2022-02-10T020857.711Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0c0282d1-5ab4-4a86-b1f6-165a3dbd515a"	"2024-04-21"
"GENCC_000102-HGNC_24526-MONDO_0014286-HP_0000006-GENCC_100003"	"HGNC:24526"	"ATL3"	"MONDO:0014286"	"neuropathy, hereditary sensory, type 1F"	"MONDO:0014286"	"neuropathy, hereditary sensory, type 1F"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24526"	"ATL3"	"MONDO:0014286"	"neuropathy, hereditary sensory, type 1F"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-07-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132d0be7-2003-43ed-a934-1cf60cf45773-2021-07-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"132d0be7-2003-43ed-a934-1cf60cf45773"	"2024-04-21"
"GENCC_000102-HGNC_795-MONDO_0016248-HP_0000006-GENCC_100004"	"HGNC:795"	"ATM"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:795"	"ATM"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-07-12 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10080"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10080"	"2024-04-21"
"GENCC_000102-HGNC_795-MONDO_0018630-HP_0000006-GENCC_100003"	"HGNC:795"	"ATM"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:795"	"ATM"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2017-08-28 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9861"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9861"	"2024-04-21"
"GENCC_000102-HGNC_795-MONDO_0016419-HP_0000006-GENCC_100001"	"HGNC:795"	"ATM"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:795"	"ATM"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-07-12 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9908"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9908"	"2024-04-21"
"GENCC_000102-HGNC_795-MONDO_0008840-HP_0000007-GENCC_100001"	"HGNC:795"	"ATM"	"MONDO:0008840"	"ataxia telangiectasia"	"MONDO:0008840"	"ataxia telangiectasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:795"	"ATM"	"MONDO:0008840"	"ataxia telangiectasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 20:52:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02a69e27-77dc-41bd-83d2-dda9c224ee43-2021-07-27T205239.729Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"02a69e27-77dc-41bd-83d2-dda9c224ee43"	"2024-04-21"
"GENCC_000102-HGNC_30213-MONDO_0011706-HP_0000007-GENCC_100001"	"HGNC:30213"	"ATP13A2"	"MONDO:0011706"	"Kufor-Rakeb syndrome"	"MONDO:0011706"	"Kufor-Rakeb syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30213"	"ATP13A2"	"MONDO:0011706"	"Kufor-Rakeb syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ba5cb4f-3f7f-44dc-b2a5-0a2d62e510d4-2022-04-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0ba5cb4f-3f7f-44dc-b2a5-0a2d62e510d4"	"2024-04-21"
"GENCC_000102-HGNC_24113-MONDO_0015924-HP_0032113-GENCC_100001"	"HGNC:24113"	"ATP13A3"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:24113"	"ATP13A3"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-09 17:39:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5024e74a-fe6e-4eb2-89df-d07ff18e439c-2021-11-09T173936.225Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5024e74a-fe6e-4eb2-89df-d07ff18e439c"	"2024-04-21"
"GENCC_000102-HGNC_799-MONDO_0054833-HP_0000006-GENCC_100003"	"HGNC:799"	"ATP1A1"	"MONDO:0054833"	"charcot-marie-tooth disease, axonal, type 2DD"	"MONDO:0054833"	"charcot-marie-tooth disease, axonal, type 2DD"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:799"	"ATP1A1"	"MONDO:0054833"	"charcot-marie-tooth disease, axonal, type 2DD"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-10-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65182954-6603-4880-85fa-352700bd784b-2022-10-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"65182954-6603-4880-85fa-352700bd784b"	"2024-04-21"
"GENCC_000102-HGNC_800-MONDO_0100539-HP_0000006-GENCC_100001"	"HGNC:800"	"ATP1A2"	"MONDO:0100539"	"hemiplegic migraine-developmental and epileptic encephalopathy spectrum"	"MONDO:0100539"	"hemiplegic migraine-developmental and epileptic encephalopathy spectrum"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:800"	"ATP1A2"	"MONDO:0100539"	"hemiplegic migraine-developmental and epileptic encephalopathy spectrum"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-16 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe788a45-b8da-4377-acdb-5dd55fcc3130-2024-01-16T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fe788a45-b8da-4377-acdb-5dd55fcc3130"	"2024-04-21"
"GENCC_000102-HGNC_801-MONDO_0700002-HP_0000006-GENCC_100001"	"HGNC:801"	"ATP1A3"	"MONDO:0700002"	"ATP1A3-associated neurological disorder"	"MONDO:0700002"	"ATP1A3-associated neurological disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:801"	"ATP1A3"	"MONDO:0700002"	"ATP1A3-associated neurological disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-22 06:35:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a572fef-35c5-46dd-8a69-af436b3ecdcc-2022-05-22T063513.942Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2a572fef-35c5-46dd-8a69-af436b3ecdcc"	"2024-04-21"
"GENCC_000102-HGNC_30889-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:30889"	"ATP5MK"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30889"	"ATP5MK"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-08-27 16:42:52"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff19a86d-404a-464e-8da6-8824ce45ed20-2020-08-27T164252.070Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff19a86d-404a-464e-8da6-8824ce45ed20"	"2024-04-21"
"GENCC_000102-HGNC_868-MONDO_0005501-HP_0001417-GENCC_100004"	"HGNC:868"	"ATP6AP1"	"MONDO:0005501"	"congenital disorder of glycosylation type II"	"MONDO:0005501"	"congenital disorder of glycosylation type II"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:868"	"ATP6AP1"	"MONDO:0005501"	"congenital disorder of glycosylation type II"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-09-17 12:23:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6bfce2b-c20c-40f9-b2f5-d81f76a328f7-2021-09-17T122311.885Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c6bfce2b-c20c-40f9-b2f5-d81f76a328f7"	"2024-04-21"
"GENCC_000102-HGNC_18305-MONDO_0100146-HP_0001417-GENCC_100001"	"HGNC:18305"	"ATP6AP2"	"MONDO:0100146"	"ATP6AP2-related disorder"	"MONDO:0100146"	"ATP6AP2-related disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:18305"	"ATP6AP2"	"MONDO:0100146"	"ATP6AP2-related disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac33652a-dd98-46f4-ba4e-d3d5a482a22e-2020-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac33652a-dd98-46f4-ba4e-d3d5a482a22e"	"2024-04-21"
"GENCC_000102-HGNC_853-MONDO_0009968-HP_0000007-GENCC_100001"	"HGNC:853"	"ATP6V1B1"	"MONDO:0009968"	"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"	"MONDO:0009968"	"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:853"	"ATP6V1B1"	"MONDO:0009968"	"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-19 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c74d3789-9cfc-4be3-b23d-baf610620e6c-2017-12-19T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c74d3789-9cfc-4be3-b23d-baf610620e6c"	"2024-04-21"
"GENCC_000102-HGNC_869-MONDO_0010651-HP_0001417-GENCC_100001"	"HGNC:869"	"ATP7A"	"MONDO:0010651"	"Menkes disease"	"MONDO:0010651"	"Menkes disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:869"	"ATP7A"	"MONDO:0010651"	"Menkes disease"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bc50734-316b-47db-ba10-61f3fde46cca-2018-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9bc50734-316b-47db-ba10-61f3fde46cca"	"2024-04-21"
"GENCC_000102-HGNC_869-MONDO_0010338-HP_0001417-GENCC_100003"	"HGNC:869"	"ATP7A"	"MONDO:0010338"	"X-linked distal spinal muscular atrophy type 3"	"MONDO:0010338"	"X-linked distal spinal muscular atrophy type 3"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:869"	"ATP7A"	"MONDO:0010338"	"X-linked distal spinal muscular atrophy type 3"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec7c42f3-3cad-4020-aa75-cf103c5381ba-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ec7c42f3-3cad-4020-aa75-cf103c5381ba"	"2024-04-21"
"GENCC_000102-HGNC_870-MONDO_0010200-HP_0000007-GENCC_100001"	"HGNC:870"	"ATP7B"	"MONDO:0010200"	"Wilson disease"	"MONDO:0010200"	"Wilson disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:870"	"ATP7B"	"MONDO:0010200"	"Wilson disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0ac0a41-d7d5-4377-a622-1ee9bc4ed9f3-2019-03-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f0ac0a41-d7d5-4377-a622-1ee9bc4ed9f3"	"2024-04-21"
"GENCC_000102-HGNC_18802-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:18802"	"ATPAF2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18802"	"ATPAF2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-04 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfb2ce05-0eb4-4b98-95e5-e01cac3131ac-2022-04-04T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cfb2ce05-0eb4-4b98-95e5-e01cac3131ac"	"2024-04-21"
"GENCC_000102-HGNC_886-MONDO_0016980-HP_0001417-GENCC_100001"	"HGNC:886"	"ATRX"	"MONDO:0016980"	"ATR-X-related syndrome"	"MONDO:0016980"	"ATR-X-related syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:886"	"ATRX"	"MONDO:0016980"	"ATR-X-related syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5296ecdf-b709-47bd-9032-daec8b91e300-2021-09-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5296ecdf-b709-47bd-9032-daec8b91e300"	"2024-04-21"
"GENCC_000102-HGNC_10555-MONDO_0008458-HP_0000006-GENCC_100001"	"HGNC:10555"	"ATXN2"	"MONDO:0008458"	"spinocerebellar ataxia type 2"	"MONDO:0008458"	"spinocerebellar ataxia type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10555"	"ATXN2"	"MONDO:0008458"	"spinocerebellar ataxia type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5f9701f-a9a7-4689-9aec-27b3cbb06129-2024-02-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a5f9701f-a9a7-4689-9aec-27b3cbb06129"	"2024-04-21"
"GENCC_000102-HGNC_890-MONDO_0009610-HP_0000007-GENCC_100001"	"HGNC:890"	"AUH"	"MONDO:0009610"	"3-methylglutaconic aciduria type 1"	"MONDO:0009610"	"3-methylglutaconic aciduria type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:890"	"AUH"	"MONDO:0009610"	"3-methylglutaconic aciduria type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:42:31"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_681f6747-37ce-498e-8bb1-eddd55a90e2c-2020-06-29T174231.569Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"681f6747-37ce-498e-8bb1-eddd55a90e2c"	"2024-04-21"
"GENCC_000102-HGNC_14262-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:14262"	"AUTS2"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14262"	"AUTS2"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_582999f6-b3b4-46de-90a0-8f44e22df469-2020-09-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"582999f6-b3b4-46de-90a0-8f44e22df469"	"2024-04-21"
"GENCC_000102-HGNC_895-MONDO_0005258-HP_0000005-GENCC_100005"	"HGNC:895"	"AVPR1A"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:895"	"AVPR1A"	"MONDO:0005258"	"autism spectrum disorder"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-03-01 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ea232de-063f-489a-b00a-8c5d11dbe43a-2022-03-01T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8ea232de-063f-489a-b00a-8c5d11dbe43a"	"2024-04-21"
"GENCC_000102-HGNC_904-MONDO_0012075-HP_0000006-GENCC_100001"	"HGNC:904"	"AXIN2"	"MONDO:0012075"	"oligodontia-cancer predisposition syndrome"	"MONDO:0012075"	"oligodontia-cancer predisposition syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:904"	"AXIN2"	"MONDO:0012075"	"oligodontia-cancer predisposition syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb1ae839-6186-44f7-85fe-8642b6c180ba-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cb1ae839-6186-44f7-85fe-8642b6c180ba"	"2024-04-21"
"GENCC_000102-HGNC_4117-MONDO_0015150-HP_0000007-GENCC_100001"	"HGNC:4117"	"B4GALNT1"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4117"	"B4GALNT1"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-01 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4cabf677-8fa5-4455-831c-1d06dd48c780-2023-06-01T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4cabf677-8fa5-4455-831c-1d06dd48c780"	"2024-04-21"
"GENCC_000102-HGNC_15685-MONDO_0014120-HP_0000007-GENCC_100003"	"HGNC:15685"	"B4GAT1"	"MONDO:0014120"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	"MONDO:0014120"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15685"	"B4GAT1"	"MONDO:0014120"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-03-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fdad7b1-d881-4d7c-a9ab-34812a92ae24-2023-03-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5fdad7b1-d881-4d7c-a9ab-34812a92ae24"	"2024-04-21"
"GENCC_000102-HGNC_24123-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:24123"	"B9D1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24123"	"B9D1"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d682069-b65a-46d5-973a-6b43ba1a80e1-2023-05-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d682069-b65a-46d5-973a-6b43ba1a80e1"	"2024-04-21"
"GENCC_000102-HGNC_28636-MONDO_0005308-HP_0000007-GENCC_100003"	"HGNC:28636"	"B9D2"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28636"	"B9D2"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebe1140c-09cc-4d05-8886-5a78267afe65-2023-06-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ebe1140c-09cc-4d05-8886-5a78267afe65"	"2024-04-21"
"GENCC_000102-HGNC_932-MONDO_0100305-HP_0000007-GENCC_100003"	"HGNC:932"	"BAAT"	"MONDO:0100305"	"bile acid CoA:amino acid N-acyltransferase deficiency"	"MONDO:0100305"	"bile acid CoA:amino acid N-acyltransferase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:932"	"BAAT"	"MONDO:0100305"	"bile acid CoA:amino acid N-acyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-04-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b732497-a853-45af-bf8e-b3ad663159f1-2022-04-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b732497-a853-45af-bf8e-b3ad663159f1"	"2024-04-21"
"GENCC_000102-HGNC_14078-MONDO_0032723-HP_0000006-GENCC_100003"	"HGNC:14078"	"BACH2"	"MONDO:0032723"	"immunodeficiency 60"	"MONDO:0032723"	"immunodeficiency 60"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14078"	"BACH2"	"MONDO:0032723"	"immunodeficiency 60"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-02-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2473560a-6e5c-4342-a6e2-c89e37f4cc71-2023-02-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2473560a-6e5c-4342-a6e2-c89e37f4cc71"	"2024-04-21"
"GENCC_000102-HGNC_939-MONDO_0018943-HP_0000006-GENCC_100001"	"HGNC:939"	"BAG3"	"MONDO:0018943"	"myofibrillar myopathy"	"MONDO:0018943"	"myofibrillar myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:939"	"BAG3"	"MONDO:0018943"	"myofibrillar myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-12-18 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5466"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5466"	"2024-04-21"
"GENCC_000102-HGNC_939-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:939"	"BAG3"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:939"	"BAG3"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bec07e1-0186-4f45-bd8e-7d8a0f2547a9-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1bec07e1-0186-4f45-bd8e-7d8a0f2547a9"	"2024-04-21"
"GENCC_000102-HGNC_950-MONDO_0013692-HP_0000006-GENCC_100001"	"HGNC:950"	"BAP1"	"MONDO:0013692"	"BAP1-related tumor predisposition syndrome"	"MONDO:0013692"	"BAP1-related tumor predisposition syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:950"	"BAP1"	"MONDO:0013692"	"BAP1-related tumor predisposition syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-21 17:57:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d70c33af-2e4f-4489-9c29-797655015b1d-2019-03-21T175713.803Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d70c33af-2e4f-4489-9c29-797655015b1d"	"2024-04-21"
"GENCC_000102-HGNC_952-MONDO_0016419-HP_0000006-GENCC_100001"	"HGNC:952"	"BARD1"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:952"	"BARD1"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-08-09 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10081"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10081"	"2024-04-21"
"GENCC_000102-HGNC_952-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:952"	"BARD1"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:952"	"BARD1"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-06-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8430"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8430"	"2024-04-21"
"GENCC_000102-HGNC_952-MONDO_0016248-HP_0000006-GENCC_100004"	"HGNC:952"	"BARD1"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:952"	"BARD1"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-08-09 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9909"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9909"	"2024-04-21"
"GENCC_000102-HGNC_963-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:963"	"BAZ2B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:963"	"BAZ2B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-10-19 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be8c5c40-5fe7-4247-b1d2-b11ca339b365-2022-10-19T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"be8c5c40-5fe7-4247-b1d2-b11ca339b365"	"2024-04-21"
"GENCC_000102-HGNC_966-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:966"	"BBS1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:966"	"BBS1"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee6e7562-927a-459b-a0f1-ccd849c7e783-2023-12-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ee6e7562-927a-459b-a0f1-ccd849c7e783"	"2024-04-21"
"GENCC_000102-HGNC_26291-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:26291"	"BBS10"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26291"	"BBS10"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9eb490e-1977-426e-ac7a-c507bbc38490-2023-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f9eb490e-1977-426e-ac7a-c507bbc38490"	"2024-04-21"
"GENCC_000102-HGNC_26648-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:26648"	"BBS12"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26648"	"BBS12"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3aefcbae-bf06-45da-b3be-a550e997257a-2024-01-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3aefcbae-bf06-45da-b3be-a550e997257a"	"2024-04-21"
"GENCC_000102-HGNC_967-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:967"	"BBS2"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:967"	"BBS2"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be74a060-cfb3-4180-a107-cfaf0e81bfa3-2024-03-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"be74a060-cfb3-4180-a107-cfaf0e81bfa3"	"2024-04-21"
"GENCC_000102-HGNC_969-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:969"	"BBS4"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:969"	"BBS4"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_988d537d-5595-4b8f-bbc4-8e3aefc025fa-2023-12-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"988d537d-5595-4b8f-bbc4-8e3aefc025fa"	"2024-04-21"
"GENCC_000102-HGNC_18758-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:18758"	"BBS7"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18758"	"BBS7"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a09e1836-927c-424d-b10c-fd93f3e6dc6b-2023-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a09e1836-927c-424d-b10c-fd93f3e6dc6b"	"2024-04-21"
"GENCC_000102-HGNC_30000-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:30000"	"BBS9"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30000"	"BBS9"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fc68f9f-ed7c-453e-8c41-179a9ccad0ca-2023-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3fc68f9f-ed7c-453e-8c41-179a9ccad0ca"	"2024-04-21"
"GENCC_000102-HGNC_16695-MONDO_0010334-HP_0001417-GENCC_100001"	"HGNC:16695"	"BCAP31"	"MONDO:0010334"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"MONDO:0010334"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:16695"	"BCAP31"	"MONDO:0010334"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d31d5251-bedd-49e9-b0bb-5ff6923edcf7-2023-08-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d31d5251-bedd-49e9-b0bb-5ff6923edcf7"	"2024-04-21"
"GENCC_000102-HGNC_977-MONDO_0100058-HP_0000007-GENCC_100001"	"HGNC:977"	"BCAT2"	"MONDO:0100058"	"hypervalinemia and hyperleucine-isoleucinemia"	"MONDO:0100058"	"hypervalinemia and hyperleucine-isoleucinemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:977"	"BCAT2"	"MONDO:0100058"	"hypervalinemia and hyperleucine-isoleucinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-24 17:23:25"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5e16ee6-88c9-4872-8681-dd7fd0156b0f-2020-07-24T172325.905Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b5e16ee6-88c9-4872-8681-dd7fd0156b0f"	"2024-04-21"
"GENCC_000102-HGNC_986-MONDO_0023691-HP_0000007-GENCC_100001"	"HGNC:986"	"BCKDHA"	"MONDO:0023691"	"maple syrup urine disease type 1A"	"MONDO:0023691"	"maple syrup urine disease type 1A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:986"	"BCKDHA"	"MONDO:0023691"	"maple syrup urine disease type 1A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c89a6c7-751a-4a99-8a32-97cc33c5df7c-2018-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5c89a6c7-751a-4a99-8a32-97cc33c5df7c"	"2024-04-21"
"GENCC_000102-HGNC_987-MONDO_0023692-HP_0000007-GENCC_100001"	"HGNC:987"	"BCKDHB"	"MONDO:0023692"	"maple syrup urine disease type 1B"	"MONDO:0023692"	"maple syrup urine disease type 1B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:987"	"BCKDHB"	"MONDO:0023692"	"maple syrup urine disease type 1B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b0d314c-7355-441c-a357-72ba3e566c57-2019-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0b0d314c-7355-441c-a357-72ba3e566c57"	"2024-04-21"
"GENCC_000102-HGNC_16902-MONDO_0013970-HP_0000007-GENCC_100001"	"HGNC:16902"	"BCKDK"	"MONDO:0013970"	"branched-chain keto acid dehydrogenase kinase deficiency"	"MONDO:0013970"	"branched-chain keto acid dehydrogenase kinase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16902"	"BCKDK"	"MONDO:0013970"	"branched-chain keto acid dehydrogenase kinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f90aaad0-b56a-41dc-8d1f-9d12fc66113f-2019-01-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f90aaad0-b56a-41dc-8d1f-9d12fc66113f"	"2024-04-21"
"GENCC_000102-HGNC_989-MONDO_0014491-HP_0000007-GENCC_100001"	"HGNC:989"	"BCL10"	"MONDO:0014491"	"immunodeficiency 37"	"MONDO:0014491"	"immunodeficiency 37"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:989"	"BCL10"	"MONDO:0014491"	"immunodeficiency 37"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-29 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2826b3a9-d32b-4d91-8c5d-1a20c408d08d-2022-12-29T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2826b3a9-d32b-4d91-8c5d-1a20c408d08d"	"2024-04-21"
"GENCC_000102-HGNC_13221-MONDO_0014914-HP_0000006-GENCC_100001"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"Dias-Logan syndrome"	"MONDO:0014914"	"Dias-Logan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"Dias-Logan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-13 17:18:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9630f9a3-3f90-49c6-ae8b-6313c950b1b2-2020-09-13T171807.228Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9630f9a3-3f90-49c6-ae8b-6313c950b1b2"	"2024-04-21"
"GENCC_000102-HGNC_1008-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:1008"	"BCL9"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1008"	"BCL9"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-09-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f45b6e5-4286-40d2-aadf-9b15a62c26df-2023-09-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f45b6e5-4286-40d2-aadf-9b15a62c26df"	"2024-04-21"
"GENCC_000102-HGNC_20893-MONDO_0010261-HP_0001417-GENCC_100001"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-17 17:13:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da06b77-1ed0-4197-948c-a9bbf80b6ed4-2020-12-17T171347.861Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3da06b77-1ed0-4197-948c-a9bbf80b6ed4"	"2024-04-21"
"GENCC_000102-HGNC_25657-MONDO_0026727-HP_0001417-GENCC_100004"	"HGNC:25657"	"BCORL1"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:25657"	"BCORL1"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-05 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cc118e0-37b5-408c-9c91-ed0828997a1d-2024-03-05T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7cc118e0-37b5-408c-9c91-ed0828997a1d"	"2024-04-21"
"GENCC_000102-HGNC_1020-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:1020"	"BCS1L"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1020"	"BCS1L"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-09-19 15:53:15"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b50d7db-1144-4187-a60c-72b45adb80bd-2019-09-19T155315.896Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3b50d7db-1144-4187-a60c-72b45adb80bd"	"2024-04-21"
"GENCC_000102-HGNC_1020-MONDO_0009872-HP_0000007-GENCC_100001"	"HGNC:1020"	"BCS1L"	"MONDO:0009872"	"Bjornstad syndrome"	"MONDO:0009872"	"Bjornstad syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1020"	"BCS1L"	"MONDO:0009872"	"Bjornstad syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a26b6b5-e703-43fc-bcd0-eaff67ef8107-2018-07-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7a26b6b5-e703-43fc-bcd0-eaff67ef8107"	"2024-04-21"
"GENCC_000102-HGNC_13652-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:13652"	"BDP1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13652"	"BDP1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-03-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d300a54b-171c-4445-a138-a24409e99aae-2021-03-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d300a54b-171c-4445-a138-a24409e99aae"	"2024-04-21"
"GENCC_000102-HGNC_12703-MONDO_0019118-HP_0000006-GENCC_100001"	"HGNC:12703"	"BEST1"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12703"	"BEST1"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_487a42cc-7dd0-4991-ac9d-1346f59073c0-2023-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"487a42cc-7dd0-4991-ac9d-1346f59073c0"	"2024-04-21"
"GENCC_000102-HGNC_1044-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:1044"	"BGN"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1044"	"BGN"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8260"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8260"	"2024-04-21"
"GENCC_000102-HGNC_1052-MONDO_0018947-HP_0032113-GENCC_100001"	"HGNC:1052"	"BIN1"	"MONDO:0018947"	"centronuclear myopathy"	"MONDO:0018947"	"centronuclear myopathy"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:1052"	"BIN1"	"MONDO:0018947"	"centronuclear myopathy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a2b9d96-97da-473d-8147-a425a5364fcb-2020-04-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1a2b9d96-97da-473d-8147-a425a5364fcb"	"2024-04-21"
"GENCC_000102-HGNC_1057-MONDO_0015967-HP_0000006-GENCC_100006"	"HGNC:1057"	"BLK"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1057"	"BLK"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-01-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_072e29f7-db97-40d9-9280-819706203c24-2023-01-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"072e29f7-db97-40d9-9280-819706203c24"	"2024-04-21"
"GENCC_000102-HGNC_1058-MONDO_0008876-HP_0000007-GENCC_100001"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"MONDO:0008876"	"Bloom syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1058"	"BLM"	"MONDO:0008876"	"Bloom syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0a20b67-5a62-462c-894b-76b60a66e979-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e0a20b67-5a62-462c-894b-76b60a66e979"	"2024-04-21"
"GENCC_000102-HGNC_14211-MONDO_0013289-HP_0000007-GENCC_100001"	"HGNC:14211"	"BLNK"	"MONDO:0013289"	"agammaglobulinemia 4, autosomal recessive"	"MONDO:0013289"	"agammaglobulinemia 4, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14211"	"BLNK"	"MONDO:0013289"	"agammaglobulinemia 4, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-16 13:27:48"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e1d2e1b-52a6-4371-9055-0e1cc74da39d-2021-03-16T132748.373Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2e1d2e1b-52a6-4371-9055-0e1cc74da39d"	"2024-04-21"
"GENCC_000102-HGNC_20914-MONDO_0013560-HP_0000007-GENCC_100003"	"HGNC:20914"	"BLOC1S3"	"MONDO:0013560"	"Hermansky-Pudlak syndrome 8"	"MONDO:0013560"	"Hermansky-Pudlak syndrome 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20914"	"BLOC1S3"	"MONDO:0013560"	"Hermansky-Pudlak syndrome 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdeec503-f903-4507-89e7-33c9255b5ad1-2022-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bdeec503-f903-4507-89e7-33c9255b5ad1"	"2024-04-21"
"GENCC_000102-HGNC_8549-MONDO_0013606-HP_0000007-GENCC_100001"	"HGNC:8549"	"BLOC1S6"	"MONDO:0013606"	"Hermansky-Pudlak syndrome 9"	"MONDO:0013606"	"Hermansky-Pudlak syndrome 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8549"	"BLOC1S6"	"MONDO:0013606"	"Hermansky-Pudlak syndrome 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-25 16:55:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_984682a2-afb9-48b3-afe8-20e0f633022d-2022-05-25T165516.466Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"984682a2-afb9-48b3-afe8-20e0f633022d"	"2024-04-21"
"GENCC_000102-HGNC_20869-MONDO_0015924-HP_0000006-GENCC_100004"	"HGNC:20869"	"BMP10"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20869"	"BMP10"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-10-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98be8b85-16ad-46d3-9736-2b240803da21-2022-10-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"98be8b85-16ad-46d3-9736-2b240803da21"	"2024-04-21"
"GENCC_000102-HGNC_20869-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:20869"	"BMP10"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20869"	"BMP10"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-09-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1da0a68-cf08-4de9-8461-0808826679bd-2023-09-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1da0a68-cf08-4de9-8461-0808826679bd"	"2024-04-21"
"GENCC_000102-HGNC_1076-MONDO_0017380-HP_0000006-GENCC_100001"	"HGNC:1076"	"BMPR1A"	"MONDO:0017380"	"juvenile polyposis syndrome"	"MONDO:0017380"	"juvenile polyposis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1076"	"BMPR1A"	"MONDO:0017380"	"juvenile polyposis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7004b10e-0eb6-4517-8deb-2d4b7264d2f8-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7004b10e-0eb6-4517-8deb-2d4b7264d2f8"	"2024-04-21"
"GENCC_000102-HGNC_1076-MONDO_0015924-HP_0000005-GENCC_100005"	"HGNC:1076"	"BMPR1A"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:1076"	"BMPR1A"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-10-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e810879d-f635-4851-b20e-86998b000fcc-2022-10-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e810879d-f635-4851-b20e-86998b000fcc"	"2024-04-21"
"GENCC_000102-HGNC_1077-MONDO_0015924-HP_0000005-GENCC_100005"	"HGNC:1077"	"BMPR1B"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:1077"	"BMPR1B"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-10-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a21917a1-31d3-42dd-b6d3-ea5fa6edd6c1-2022-10-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a21917a1-31d3-42dd-b6d3-ea5fa6edd6c1"	"2024-04-21"
"GENCC_000102-HGNC_1078-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:1078"	"BMPR2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1078"	"BMPR2"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-09-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b4322da-10a2-46c4-be0c-b5163ab5f401-2023-09-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1b4322da-10a2-46c4-be0c-b5163ab5f401"	"2024-04-21"
"GENCC_000102-HGNC_1078-MONDO_0015924-HP_0000006-GENCC_100001"	"HGNC:1078"	"BMPR2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1078"	"BMPR2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-07 17:23:18"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a20ce78b-18ba-436c-877e-a08d092ac7c7-2020-12-07T172318.621Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a20ce78b-18ba-436c-877e-a08d092ac7c7"	"2024-04-21"
"GENCC_000102-HGNC_3581-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:3581"	"BPTF"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3581"	"BPTF"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08521bf8-a5a2-4a44-941b-12d9eae7aa4f-2022-07-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"08521bf8-a5a2-4a44-941b-12d9eae7aa4f"	"2024-04-21"
"GENCC_000102-HGNC_1097-MONDO_0018997-HP_0000006-GENCC_100003"	"HGNC:1097"	"BRAF"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1097"	"BRAF"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47cf08d5-efc6-4d42-b031-a06619873161-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"47cf08d5-efc6-4d42-b031-a06619873161"	"2024-04-21"
"GENCC_000102-HGNC_1097-MONDO_0007893-HP_0000006-GENCC_100004"	"HGNC:1097"	"BRAF"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1097"	"BRAF"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_888875a8-5654-486b-8e64-e1382ccc6650-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"888875a8-5654-486b-8e64-e1382ccc6650"	"2024-04-21"
"GENCC_000102-HGNC_1097-MONDO_0015280-HP_0000006-GENCC_100001"	"HGNC:1097"	"BRAF"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1097"	"BRAF"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a53e5a92-126f-4b00-a89b-af55d4f342ca-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a53e5a92-126f-4b00-a89b-af55d4f342ca"	"2024-04-21"
"GENCC_000102-HGNC_1097-MONDO_0009026-HP_0000006-GENCC_100005"	"HGNC:1097"	"BRAF"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1097"	"BRAF"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f229eceb-8f5e-4ecb-a484-7863b8dc7d19-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f229eceb-8f5e-4ecb-a484-7863b8dc7d19"	"2024-04-21"
"GENCC_000102-HGNC_21701-MONDO_0013784-HP_0000007-GENCC_100001"	"HGNC:21701"	"BRAT1"	"MONDO:0013784"	"neonatal-onset encephalopathy with rigidity and seizures"	"MONDO:0013784"	"neonatal-onset encephalopathy with rigidity and seizures"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21701"	"BRAT1"	"MONDO:0013784"	"neonatal-onset encephalopathy with rigidity and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_698a4cb3-df52-432b-9d3e-d3d76111db25-2022-09-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"698a4cb3-df52-432b-9d3e-d3d76111db25"	"2024-04-21"
"GENCC_000102-HGNC_21701-MONDO_0020841-HP_0000007-GENCC_100001"	"HGNC:21701"	"BRAT1"	"MONDO:0020841"	"neurodevelopmental disorder with cerebellar atrophy and with or without seizures"	"MONDO:0020841"	"neurodevelopmental disorder with cerebellar atrophy and with or without seizures"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21701"	"BRAT1"	"MONDO:0020841"	"neurodevelopmental disorder with cerebellar atrophy and with or without seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93a7b6f1-75e5-4f97-be9d-62fb5770b8cb-2022-09-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93a7b6f1-75e5-4f97-be9d-62fb5770b8cb"	"2024-04-21"
"GENCC_000102-HGNC_1100-MONDO_0011450-HP_0000006-GENCC_100001"	"HGNC:1100"	"BRCA1"	"MONDO:0011450"	"breast-ovarian cancer, familial, susceptibility to, 1"	"MONDO:0011450"	"breast-ovarian cancer, familial, susceptibility to, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1100"	"BRCA1"	"MONDO:0011450"	"breast-ovarian cancer, familial, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-09-13 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9972"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9972"	"2024-04-21"
"GENCC_000102-HGNC_1100-MONDO_0054748-HP_0000007-GENCC_100001"	"HGNC:1100"	"BRCA1"	"MONDO:0054748"	"Fanconi anemia, complementation group S"	"MONDO:0054748"	"Fanconi anemia, complementation group S"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1100"	"BRCA1"	"MONDO:0054748"	"Fanconi anemia, complementation group S"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-14 00:31:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa39798d-9b6e-430d-8bc1-2a01f81f1f72-2020-05-14T003137.538Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aa39798d-9b6e-430d-8bc1-2a01f81f1f72"	"2024-04-21"
"GENCC_000102-HGNC_1101-MONDO_0012933-HP_0000006-GENCC_100001"	"HGNC:1101"	"BRCA2"	"MONDO:0012933"	"breast-ovarian cancer, familial, susceptibility to, 2"	"MONDO:0012933"	"breast-ovarian cancer, familial, susceptibility to, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1101"	"BRCA2"	"MONDO:0012933"	"breast-ovarian cancer, familial, susceptibility to, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-09-13 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8397"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8397"	"2024-04-21"
"GENCC_000102-HGNC_1101-MONDO_0011584-HP_0000007-GENCC_100001"	"HGNC:1101"	"BRCA2"	"MONDO:0011584"	"Fanconi anemia complementation group D1"	"MONDO:0011584"	"Fanconi anemia complementation group D1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1101"	"BRCA2"	"MONDO:0011584"	"Fanconi anemia complementation group D1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48faf04b-ffc4-4163-8570-22f5c29c4064-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"48faf04b-ffc4-4163-8570-22f5c29c4064"	"2024-04-21"
"GENCC_000102-HGNC_13575-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:13575"	"BRD4"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13575"	"BRD4"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b28cda3-bce6-4a8f-b359-0ab398a1111d-2022-04-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8b28cda3-bce6-4a8f-b359-0ab398a1111d"	"2024-04-21"
"GENCC_000102-HGNC_20473-MONDO_0012187-HP_0000007-GENCC_100001"	"HGNC:20473"	"BRIP1"	"MONDO:0012187"	"Fanconi anemia complementation group J"	"MONDO:0012187"	"Fanconi anemia complementation group J"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20473"	"BRIP1"	"MONDO:0012187"	"Fanconi anemia complementation group J"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-08-18 16:04:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40aae4ea-8c9b-42a7-9d02-0f52a184712f-2019-08-18T160442.255Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"40aae4ea-8c9b-42a7-9d02-0f52a184712f"	"2024-04-21"
"GENCC_000102-HGNC_20473-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:20473"	"BRIP1"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20473"	"BRIP1"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87aa8181-721b-4583-98cf-0dead1827e27-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"87aa8181-721b-4583-98cf-0dead1827e27"	"2024-04-21"
"GENCC_000102-HGNC_20473-MONDO_0016248-HP_0000006-GENCC_100001"	"HGNC:20473"	"BRIP1"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20473"	"BRIP1"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1224a6d-5676-4109-b844-a577bd0bff62-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b1224a6d-5676-4109-b844-a577bd0bff62"	"2024-04-21"
"GENCC_000102-HGNC_11405-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:11405"	"BRSK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11405"	"BRSK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_327881a5-52fd-42bd-a500-c94514a7aed3-2021-02-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"327881a5-52fd-42bd-a500-c94514a7aed3"	"2024-04-21"
"GENCC_000102-HGNC_12760-MONDO_0016575-HP_0000007-GENCC_100005"	"HGNC:12760"	"BRWD1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12760"	"BRWD1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-11-10 11:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f74ee87-e640-4604-9bb7-e7617907f92c-2022-11-10T110000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9f74ee87-e640-4604-9bb7-e7617907f92c"	"2024-04-21"
"GENCC_000102-HGNC_12760-MONDO_0015977-HP_0000006-GENCC_100004"	"HGNC:12760"	"BRWD1"	"MONDO:0015977"	"agammaglobulinemia"	"MONDO:0015977"	"agammaglobulinemia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12760"	"BRWD1"	"MONDO:0015977"	"agammaglobulinemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a44471f3-0951-4456-955d-916b691e59f5-2022-12-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a44471f3-0951-4456-955d-916b691e59f5"	"2024-04-21"
"GENCC_000102-HGNC_11610-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:11610"	"TCAP"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11610"	"TCAP"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c35abc20-c04c-49ec-af02-1bd270b0b50b-2022-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c35abc20-c04c-49ec-af02-1bd270b0b50b"	"2024-04-21"
"GENCC_000102-HGNC_11610-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:11610"	"TCAP"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11610"	"TCAP"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3c6c72e-7c2b-42d4-963b-aeddbbe0e4fc-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f3c6c72e-7c2b-42d4-963b-aeddbbe0e4fc"	"2024-04-21"
"GENCC_000102-HGNC_11623-MONDO_0014128-HP_0000006-GENCC_100001"	"HGNC:11623"	"TCF12"	"MONDO:0014128"	"TCF12-related craniosynostosis"	"MONDO:0014128"	"TCF12-related craniosynostosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11623"	"TCF12"	"MONDO:0014128"	"TCF12-related craniosynostosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_11e46ed0-dbfb-4151-ba1c-cc56214d6ca6-2021-01-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"11e46ed0-dbfb-4151-ba1c-cc56214d6ca6"	"2024-04-21"
"GENCC_000102-HGNC_11631-MONDO_0032745-HP_0000006-GENCC_100001"	"HGNC:11631"	"TCF20"	"MONDO:0032745"	"developmental delay with variable intellectual impairment and behavioral abnormalities"	"MONDO:0032745"	"developmental delay with variable intellectual impairment and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11631"	"TCF20"	"MONDO:0032745"	"developmental delay with variable intellectual impairment and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-07 17:20:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_619ae2be-5ab6-418d-8824-373369337faa-2020-10-07T172001.182Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"619ae2be-5ab6-418d-8824-373369337faa"	"2024-04-21"
"GENCC_000102-HGNC_11633-MONDO_0011096-HP_0032113-GENCC_100001"	"HGNC:11633"	"TCF3"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:11633"	"TCF3"	"MONDO:0011096"	"autosomal agammaglobulinemia"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-07 12:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_402ff7db-2e09-4e76-9284-1e7c4ae84fb3-2023-01-07T120000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"402ff7db-2e09-4e76-9284-1e7c4ae84fb3"	"2024-04-21"
"GENCC_000102-HGNC_11634-MONDO_0012589-HP_0000006-GENCC_100001"	"HGNC:11634"	"TCF4"	"MONDO:0012589"	"Pitt-Hopkins syndrome"	"MONDO:0012589"	"Pitt-Hopkins syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11634"	"TCF4"	"MONDO:0012589"	"Pitt-Hopkins syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_096f830c-0065-456a-9e26-db54fd157981-2018-05-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"096f830c-0065-456a-9e26-db54fd157981"	"2024-04-21"
"GENCC_000102-HGNC_11641-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:11641"	"TCF7L2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11641"	"TCF7L2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b11a5317-868b-49a9-b051-721940fb5936-2021-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b11a5317-868b-49a9-b051-721940fb5936"	"2024-04-21"
"GENCC_000102-HGNC_11647-MONDO_0009815-HP_0000007-GENCC_100001"	"HGNC:11647"	"TCIRG1"	"MONDO:0009815"	"autosomal recessive osteopetrosis 1"	"MONDO:0009815"	"autosomal recessive osteopetrosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11647"	"TCIRG1"	"MONDO:0009815"	"autosomal recessive osteopetrosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac31a88-733f-4783-bfb7-8eecba7a70f1-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0ac31a88-733f-4783-bfb7-8eecba7a70f1"	"2024-04-21"
"GENCC_000102-HGNC_11647-MONDO_0009138-HP_0000007-GENCC_100004"	"HGNC:11647"	"TCIRG1"	"MONDO:0009138"	"dysosteosclerosis"	"MONDO:0009138"	"dysosteosclerosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11647"	"TCIRG1"	"MONDO:0009138"	"dysosteosclerosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-12-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_510894e0-bd9e-4929-aae1-ac548138ab6c-2023-12-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"510894e0-bd9e-4929-aae1-ac548138ab6c"	"2024-04-21"
"GENCC_000102-HGNC_11654-MONDO_0002457-HP_0000006-GENCC_100001"	"HGNC:11654"	"TCOF1"	"MONDO:0002457"	"Treacher-Collins syndrome"	"MONDO:0002457"	"Treacher-Collins syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11654"	"TCOF1"	"MONDO:0002457"	"Treacher-Collins syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f91c5fe-8e58-4c98-9878-e428e2e41dd7-2019-09-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3f91c5fe-8e58-4c98-9878-e428e2e41dd7"	"2024-04-21"
"GENCC_000102-HGNC_25774-MONDO_0014724-HP_0000007-GENCC_100001"	"HGNC:25774"	"TCTN2"	"MONDO:0014724"	"Joubert syndrome 24"	"MONDO:0014724"	"Joubert syndrome 24"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25774"	"TCTN2"	"MONDO:0014724"	"Joubert syndrome 24"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82bc1eb0-882b-48a2-a29f-23bec8d75def-2023-07-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82bc1eb0-882b-48a2-a29f-23bec8d75def"	"2024-04-21"
"GENCC_000102-HGNC_24519-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:24519"	"TCTN3"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24519"	"TCTN3"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2d88e7f-2d6d-423f-8602-c89b76849bef-2022-11-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f2d88e7f-2d6d-423f-8602-c89b76849bef"	"2024-04-21"
"GENCC_000102-HGNC_11708-MONDO_0010907-HP_0000007-GENCC_100004"	"HGNC:11708"	"TDO2"	"MONDO:0010907"	"familial hypertryptophanemia"	"MONDO:0010907"	"familial hypertryptophanemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11708"	"TDO2"	"MONDO:0010907"	"familial hypertryptophanemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b20a4b6d-c43c-4397-bbd2-3d4c6ea6f0e0-2023-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b20a4b6d-c43c-4397-bbd2-3d4c6ea6f0e0"	"2024-04-21"
"GENCC_000102-HGNC_4551-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:4551"	"TECR"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4551"	"TECR"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-03-10 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c7adee2-6a14-4348-a018-9097954bd39d-2022-03-10T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8c7adee2-6a14-4348-a018-9097954bd39d"	"2024-04-21"
"GENCC_000102-HGNC_27365-MONDO_0017990-HP_0000007-GENCC_100001"	"HGNC:27365"	"TECRL"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:27365"	"TECRL"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6889dc44-eef0-4a4d-8fdb-aef2dc570f29-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6889dc44-eef0-4a4d-8fdb-aef2dc570f29"	"2024-04-21"
"GENCC_000102-HGNC_11720-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:11720"	"TECTA"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11720"	"TECTA"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c7395aa-89bb-40e2-a226-0500fef478bb-2018-01-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0c7395aa-89bb-40e2-a226-0500fef478bb"	"2024-04-21"
"GENCC_000102-HGNC_11720-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:11720"	"TECTA"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11720"	"TECTA"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95b38b73-f807-4401-9600-fe1f319b9dd9-2018-01-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"95b38b73-f807-4401-9600-fe1f319b9dd9"	"2024-04-21"
"GENCC_000102-HGNC_11724-MONDO_0800182-HP_0000006-GENCC_100001"	"HGNC:11724"	"TEK"	"MONDO:0800182"	"TEK-related primary glaucoma"	"MONDO:0800182"	"TEK-related primary glaucoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11724"	"TEK"	"MONDO:0800182"	"TEK-related primary glaucoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20f13e3f-f927-46c1-b5ed-919f696a7687-2022-08-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20f13e3f-f927-46c1-b5ed-919f696a7687"	"2024-04-21"
"GENCC_000102-HGNC_29099-MONDO_0014848-HP_0000007-GENCC_100001"	"HGNC:29099"	"TELO2"	"MONDO:0014848"	"TELO2-related intellectual disability-neurodevelopmental disorder"	"MONDO:0014848"	"TELO2-related intellectual disability-neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29099"	"TELO2"	"MONDO:0014848"	"TELO2-related intellectual disability-neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6995e858-919b-4a08-be40-54a56371a408-2022-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6995e858-919b-4a08-be40-54a56371a408"	"2024-04-21"
"GENCC_000102-HGNC_11730-MONDO_0013521-HP_0032113-GENCC_100001"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 20:58:43"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afb6ea76-e8ac-4a38-b42c-23fc18a9623b-2020-07-30T205843.081Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afb6ea76-e8ac-4a38-b42c-23fc18a9623b"	"2024-04-21"
"GENCC_000102-HGNC_25941-MONDO_0015924-HP_0000006-GENCC_100003"	"HGNC:25941"	"TET2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:25941"	"TET2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c056edd-f72b-43e9-ba40-7504f285cf5a-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0c056edd-f72b-43e9-ba40-7504f285cf5a"	"2024-04-21"
"GENCC_000102-HGNC_28313-MONDO_0032922-HP_0000007-GENCC_100004"	"HGNC:28313"	"TET3"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28313"	"TET3"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57cad65b-fa25-426c-a246-b194f7f961ce-2023-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"57cad65b-fa25-426c-a246-b194f7f961ce"	"2024-04-21"
"GENCC_000102-HGNC_28313-MONDO_0032922-HP_0000006-GENCC_100001"	"HGNC:28313"	"TET3"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28313"	"TET3"	"MONDO:0032922"	"Beck-Fahrner syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbafb28e-a0b7-4e60-813a-6f12ddcd2bd2-2023-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fbafb28e-a0b7-4e60-813a-6f12ddcd2bd2"	"2024-04-21"
"GENCC_000102-HGNC_11752-MONDO_0800439-HP_0001417-GENCC_100001"	"HGNC:11752"	"TFE3"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11752"	"TFE3"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-19 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d36998f-4d2a-4485-bf51-ce5275fb86d7-2024-03-19T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4d36998f-4d2a-4485-bf51-ce5275fb86d7"	"2024-04-21"
"GENCC_000102-HGNC_11763-MONDO_0014760-HP_0000007-GENCC_100003"	"HGNC:11763"	"TFRC"	"MONDO:0014760"	"TFRC-related combined immunodeficiency"	"MONDO:0014760"	"TFRC-related combined immunodeficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11763"	"TFRC"	"MONDO:0014760"	"TFRC-related combined immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-10-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d4f6437-081d-41e9-992a-afb73b72ef3b-2022-10-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5d4f6437-081d-41e9-992a-afb73b72ef3b"	"2024-04-21"
"GENCC_000102-HGNC_11768-MONDO_0019625-HP_0000006-GENCC_100001"	"HGNC:11768"	"TGFB2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11768"	"TGFB2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-05-06 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8254"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8254"	"2024-04-21"
"GENCC_000102-HGNC_11769-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:11769"	"TGFB3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11769"	"TGFB3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8266"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8266"	"2024-04-21"
"GENCC_000102-HGNC_11769-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:11769"	"TGFB3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11769"	"TGFB3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-08-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36ed9be9-2854-49e5-801c-a8fd65fec98e-2019-08-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"36ed9be9-2854-49e5-801c-a8fd65fec98e"	"2024-04-21"
"GENCC_000102-HGNC_11772-MONDO_0019625-HP_0000006-GENCC_100001"	"HGNC:11772"	"TGFBR1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11772"	"TGFBR1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-10-12 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8255"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8255"	"2024-04-21"
"GENCC_000102-HGNC_11772-MONDO_0007566-HP_0000006-GENCC_100001"	"HGNC:11772"	"TGFBR1"	"MONDO:0007566"	"multiple self-healing squamous epithelioma"	"MONDO:0007566"	"multiple self-healing squamous epithelioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11772"	"TGFBR1"	"MONDO:0007566"	"multiple self-healing squamous epithelioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-12-20 21:25:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_570947a0-3e45-419c-bc22-0fdc60ca6009-2019-12-20T212550.834Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"570947a0-3e45-419c-bc22-0fdc60ca6009"	"2024-04-21"
"GENCC_000102-HGNC_11772-MONDO_0018954-HP_0000006-GENCC_100001"	"HGNC:11772"	"TGFBR1"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11772"	"TGFBR1"	"MONDO:0018954"	"Loeys-Dietz syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a546ce2-432c-4c8a-90e5-97293d7938be-2019-03-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8a546ce2-432c-4c8a-90e5-97293d7938be"	"2024-04-21"
"GENCC_000102-HGNC_11773-MONDO_0019625-HP_0000006-GENCC_100001"	"HGNC:11773"	"TGFBR2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11773"	"TGFBR2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-02-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8256"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8256"	"2024-04-21"
"GENCC_000102-HGNC_11773-MONDO_0012427-HP_0000006-GENCC_100001"	"HGNC:11773"	"TGFBR2"	"MONDO:0012427"	"Loeys-Dietz syndrome 2"	"MONDO:0012427"	"Loeys-Dietz syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11773"	"TGFBR2"	"MONDO:0012427"	"Loeys-Dietz syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-25 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73be8b4f-d823-44e5-ab76-faa3bc8eca84-2020-11-25T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"73be8b4f-d823-44e5-ab76-faa3bc8eca84"	"2024-04-21"
"GENCC_000102-HGNC_11782-MONDO_0100064-HP_0000007-GENCC_100001"	"HGNC:11782"	"TH"	"MONDO:0100064"	"tyrosine hydroxylase deficiency"	"MONDO:0100064"	"tyrosine hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11782"	"TH"	"MONDO:0100064"	"tyrosine hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4bf9fbb-0046-4a90-9e74-0b3b79f28f59-2019-03-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c4bf9fbb-0046-4a90-9e74-0b3b79f28f59"	"2024-04-21"
"GENCC_000102-HGNC_23194-MONDO_0016826-HP_0000007-GENCC_100004"	"HGNC:23194"	"THAP11"	"MONDO:0016826"	"methylmalonic aciduria and homocystinuria"	"MONDO:0016826"	"methylmalonic aciduria and homocystinuria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23194"	"THAP11"	"MONDO:0016826"	"methylmalonic aciduria and homocystinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-02-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6976fdb2-7650-46b7-887c-454666f23bc8-2024-02-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6976fdb2-7650-46b7-887c-454666f23bc8"	"2024-04-21"
"GENCC_000102-HGNC_11784-MONDO_0013775-HP_0000006-GENCC_100003"	"HGNC:11784"	"THBD"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11784"	"THBD"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_358cb384-4303-425d-9b92-509c600c2d03-2021-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"358cb384-4303-425d-9b92-509c600c2d03"	"2024-04-21"
"GENCC_000102-HGNC_11784-MONDO_0013775-HP_0000007-GENCC_100004"	"HGNC:11784"	"THBD"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11784"	"THBD"	"MONDO:0013775"	"thrombomodulin-related bleeding disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65204ffc-d2bd-4334-bf9f-eaea618593dd-2021-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"65204ffc-d2bd-4334-bf9f-eaea618593dd"	"2024-04-21"
"GENCC_000102-HGNC_28369-MONDO_0013362-HP_0000007-GENCC_100001"	"HGNC:28369"	"THOC6"	"MONDO:0013362"	"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	"MONDO:0013362"	"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28369"	"THOC6"	"MONDO:0013362"	"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db4039ce-b9e7-40ba-ac45-a622bb75b803-2024-03-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db4039ce-b9e7-40ba-ac45-a622bb75b803"	"2024-04-21"
"GENCC_000102-HGNC_11795-MONDO_0800451-HP_0000007-GENCC_100003"	"HGNC:11795"	"THPO"	"MONDO:0800451"	"congenital amegakaryocytic thrombocytopenia"	"MONDO:0800451"	"congenital amegakaryocytic thrombocytopenia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11795"	"THPO"	"MONDO:0800451"	"congenital amegakaryocytic thrombocytopenia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f69370e-5f85-4006-b600-75be2d5f482f-2022-03-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f69370e-5f85-4006-b600-75be2d5f482f"	"2024-04-21"
"GENCC_000102-HGNC_11795-MONDO_0008554-HP_0000006-GENCC_100003"	"HGNC:11795"	"THPO"	"MONDO:0008554"	"thrombocythemia 1"	"MONDO:0008554"	"thrombocythemia 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11795"	"THPO"	"MONDO:0008554"	"thrombocythemia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e99d3899-efbe-4cb9-9170-748ea92892ce-2022-03-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e99d3899-efbe-4cb9-9170-748ea92892ce"	"2024-04-21"
"GENCC_000102-HGNC_11802-MONDO_0030885-HP_0000006-GENCC_100004"	"HGNC:11802"	"TIA1"	"MONDO:0030885"	"amyotrophic lateral sclerosis 26 with or without frontotemporal dementia"	"MONDO:0030885"	"amyotrophic lateral sclerosis 26 with or without frontotemporal dementia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11802"	"TIA1"	"MONDO:0030885"	"amyotrophic lateral sclerosis 26 with or without frontotemporal dementia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-10-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_555a0c95-2fb8-44d2-b2bf-c02b16d3fa6f-2022-10-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"555a0c95-2fb8-44d2-b2bf-c02b16d3fa6f"	"2024-04-21"
"GENCC_000102-HGNC_23656-MONDO_0044724-HP_0000007-GENCC_100001"	"HGNC:23656"	"TIMM50"	"MONDO:0044724"	"3-methylglutaconic aciduria type 9"	"MONDO:0044724"	"3-methylglutaconic aciduria type 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23656"	"TIMM50"	"MONDO:0044724"	"3-methylglutaconic aciduria type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-25 20:21:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92bd34f9-b744-4246-b50f-cfa8ab95597b-2021-10-25T202158.414Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"92bd34f9-b744-4246-b50f-cfa8ab95597b"	"2024-04-21"
"GENCC_000102-HGNC_11817-MONDO_0010578-HP_0001417-GENCC_100001"	"HGNC:11817"	"TIMM8A"	"MONDO:0010578"	"deafness dystonia syndrome"	"MONDO:0010578"	"deafness dystonia syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11817"	"TIMM8A"	"MONDO:0010578"	"deafness dystonia syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-19 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a21d3842-b39e-4f98-860a-61a9aa4e2d2b-2017-12-19T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a21d3842-b39e-4f98-860a-61a9aa4e2d2b"	"2024-04-21"
"GENCC_000102-HGNC_1321-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:1321"	"TIMMDC1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1321"	"TIMMDC1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-30 22:00:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83d26d62-2863-46d9-ad7d-96c086e65e8e-2021-06-30T220013.257Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"83d26d62-2863-46d9-ad7d-96c086e65e8e"	"2024-04-21"
"GENCC_000102-HGNC_11822-MONDO_0007640-HP_0000006-GENCC_100001"	"HGNC:11822"	"TIMP3"	"MONDO:0007640"	"Sorsby fundus dystrophy"	"MONDO:0007640"	"Sorsby fundus dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11822"	"TIMP3"	"MONDO:0007640"	"Sorsby fundus dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-02 17:43:20"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8594a02c-c0f3-4542-b6d3-f089ba94417e-2021-07-02T174320.328Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8594a02c-c0f3-4542-b6d3-f089ba94417e"	"2024-04-21"
"GENCC_000102-HGNC_11827-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:11827"	"TJP1"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11827"	"TJP1"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_435951df-5a0d-4596-b112-ccd6d6204409-2019-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"435951df-5a0d-4596-b112-ccd6d6204409"	"2024-04-21"
"GENCC_000102-HGNC_11828-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:11828"	"TJP2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11828"	"TJP2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb5c5be5-918d-4ba5-b4ad-e243119a7e6a-2022-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb5c5be5-918d-4ba5-b4ad-e243119a7e6a"	"2024-04-21"
"GENCC_000102-HGNC_11831-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:11831"	"TK2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11831"	"TK2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-06 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f1bc80d-2f35-4e45-ba17-a2ba34ee51de-2023-09-06T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0f1bc80d-2f35-4e45-ba17-a2ba34ee51de"	"2024-04-21"
"GENCC_000102-HGNC_16513-MONDO_0010967-HP_0000007-GENCC_100001"	"HGNC:16513"	"TMC1"	"MONDO:0010967"	"autosomal recessive nonsyndromic hearing loss 7"	"MONDO:0010967"	"autosomal recessive nonsyndromic hearing loss 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16513"	"TMC1"	"MONDO:0010967"	"autosomal recessive nonsyndromic hearing loss 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5658"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5658"	"2024-04-21"
"GENCC_000102-HGNC_16513-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:16513"	"TMC1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16513"	"TMC1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_966d2fa1-5245-420d-9bf0-4a36aab29d74-2018-06-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"966d2fa1-5245-420d-9bf0-4a36aab29d74"	"2024-04-21"
"GENCC_000102-HGNC_30883-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:30883"	"TMEM126B"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30883"	"TMEM126B"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9df6705-7638-45c1-b3ec-db19fe0d39b9-2022-03-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f9df6705-7638-45c1-b3ec-db19fe0d39b9"	"2024-04-21"
"GENCC_000102-HGNC_26038-MONDO_0017366-HP_0000006-GENCC_100001"	"HGNC:26038"	"TMEM127"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26038"	"TMEM127"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-16 14:33:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b965b4e-c909-41da-995b-cdc2af9b3183-2021-06-16T143347.758Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b965b4e-c909-41da-995b-cdc2af9b3183"	"2024-04-21"
"GENCC_000102-HGNC_26991-MONDO_0019588-HP_0000007-GENCC_100004"	"HGNC:26991"	"TMEM132E"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26991"	"TMEM132E"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-01-26 16:32:40"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_867fc085-f2f4-40f6-8b96-565d131fd964-2022-01-26T163240.414Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"867fc085-f2f4-40f6-8b96-565d131fd964"	"2024-04-21"
"GENCC_000102-HGNC_26944-MONDO_0005308-HP_0000007-GENCC_100003"	"HGNC:26944"	"TMEM138"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26944"	"TMEM138"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7ebf874-24b0-4566-bc51-8e4dad4b0fb9-2023-04-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c7ebf874-24b0-4566-bc51-8e4dad4b0fb9"	"2024-04-21"
"GENCC_000102-HGNC_37234-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:37234"	"TMEM231"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:37234"	"TMEM231"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52100cfc-22b6-47c5-9b9c-512a1a4f1cfc-2022-01-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"52100cfc-22b6-47c5-9b9c-512a1a4f1cfc"	"2024-04-21"
"GENCC_000102-HGNC_14432-MONDO_0013745-HP_0000007-GENCC_100001"	"HGNC:14432"	"TMEM237"	"MONDO:0013745"	"Joubert syndrome 14"	"MONDO:0013745"	"Joubert syndrome 14"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14432"	"TMEM237"	"MONDO:0013745"	"Joubert syndrome 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-26 12:10:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6b843c9-8fc3-4d61-8195-29aed5e7d700-2021-04-26T121051.373Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d6b843c9-8fc3-4d61-8195-29aed5e7d700"	"2024-04-21"
"GENCC_000102-HGNC_28472-MONDO_0011459-HP_0000006-GENCC_100001"	"HGNC:28472"	"TMEM43"	"MONDO:0011459"	"arrhythmogenic right ventricular dysplasia 5"	"MONDO:0011459"	"arrhythmogenic right ventricular dysplasia 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28472"	"TMEM43"	"MONDO:0011459"	"arrhythmogenic right ventricular dysplasia 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_675dc788-9749-413f-93ce-8c1fc3adbe84-2018-10-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"675dc788-9749-413f-93ce-8c1fc3adbe84"	"2024-04-21"
"GENCC_000102-HGNC_28396-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:28396"	"TMEM67"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28396"	"TMEM67"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f380d4b-6d0b-4c09-a3ae-ec34bc8ecb8d-2021-07-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8f380d4b-6d0b-4c09-a3ae-ec34bc8ecb8d"	"2024-04-21"
"GENCC_000102-HGNC_26050-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:26050"	"TMEM70"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26050"	"TMEM70"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5be60130-254d-4af4-aca0-eb8cd88a143c-2022-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5be60130-254d-4af4-aca0-eb8cd88a143c"	"2024-04-21"
"GENCC_000102-HGNC_30800-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:30800"	"TMIE"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30800"	"TMIE"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-09-29 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b025a472-0a48-469c-a5f3-70df12ade334-2017-09-29T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b025a472-0a48-469c-a5f3-70df12ade334"	"2024-04-21"
"GENCC_000102-HGNC_18308-MONDO_0005258-HP_0001417-GENCC_100005"	"HGNC:18308"	"TMLHE"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:18308"	"TMLHE"	"MONDO:0005258"	"autism spectrum disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-03-02 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a780ea6-ad4e-417a-a596-27188e327aad-2021-03-02T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7a780ea6-ad4e-417a-a596-27188e327aad"	"2024-04-21"
"GENCC_000102-HGNC_11875-MONDO_0015470-HP_0000006-GENCC_100006"	"HGNC:11875"	"TMPO"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"MONDO:0015470"	"familial isolated dilated cardiomyopathy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11875"	"TMPO"	"MONDO:0015470"	"obsolete familial isolated dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2016-11-30 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3211"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3211"	"2024-04-21"
"GENCC_000102-HGNC_11875-MONDO_0005045-HP_0000006-GENCC_100008"	"HGNC:11875"	"TMPO"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11875"	"TMPO"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-04 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1e1bb21-c617-4aac-b9d8-1c2054d76c55-2017-04-04T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a1e1bb21-c617-4aac-b9d8-1c2054d76c55"	"2024-04-21"
"GENCC_000102-HGNC_11877-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:11877"	"TMPRSS3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11877"	"TMPRSS3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-08-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee13ba8c-7986-4e6c-8a39-4ee197ba4023-2017-08-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ee13ba8c-7986-4e6c-8a39-4ee197ba4023"	"2024-04-21"
"GENCC_000102-HGNC_25440-MONDO_0019497-HP_0000006-GENCC_100005"	"HGNC:25440"	"TMTC2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:25440"	"TMTC2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-04-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e56b4d6-4947-4de5-a3a7-373145019239-2022-04-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0e56b4d6-4947-4de5-a3a7-373145019239"	"2024-04-21"
"GENCC_000102-HGNC_5318-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:5318"	"TNC"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5318"	"TNC"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-07-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fce4988a-fb20-4f95-b73a-799c47b67e3b-2022-07-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fce4988a-fb20-4f95-b73a-799c47b67e3b"	"2024-04-21"
"GENCC_000102-HGNC_18153-MONDO_0009413-HP_0000007-GENCC_100001"	"HGNC:18153"	"TNFRSF13B"	"MONDO:0009413"	"immunodeficiency, common variable, 2"	"MONDO:0009413"	"immunodeficiency, common variable, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18153"	"TNFRSF13B"	"MONDO:0009413"	"immunodeficiency, common variable, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3049236b-8132-4dfa-8cda-2a328962a0a4-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3049236b-8132-4dfa-8cda-2a328962a0a4"	"2024-04-21"
"GENCC_000102-HGNC_17755-MONDO_0013284-HP_0000007-GENCC_100004"	"HGNC:17755"	"TNFRSF13C"	"MONDO:0013284"	"immunodeficiency, common variable, 4"	"MONDO:0013284"	"immunodeficiency, common variable, 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17755"	"TNFRSF13C"	"MONDO:0013284"	"immunodeficiency, common variable, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-13 00:33:59"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1408411b-9d28-4308-b2bc-dbada3660898-2021-04-13T003359.028Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1408411b-9d28-4308-b2bc-dbada3660898"	"2024-04-21"
"GENCC_000102-HGNC_11918-MONDO_0014268-HP_0000007-GENCC_100004"	"HGNC:11918"	"TNFRSF4"	"MONDO:0014268"	"combined immunodeficiency due to OX40 deficiency"	"MONDO:0014268"	"combined immunodeficiency due to OX40 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11918"	"TNFRSF4"	"MONDO:0014268"	"combined immunodeficiency due to OX40 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-06-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4759ec3f-6876-41c4-a6eb-fdceedccbc60-2023-06-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4759ec3f-6876-41c4-a6eb-fdceedccbc60"	"2024-04-21"
"GENCC_000102-HGNC_11927-MONDO_0015517-HP_0000006-GENCC_100004"	"HGNC:11927"	"TNFSF12"	"MONDO:0015517"	"common variable immunodeficiency"	"MONDO:0015517"	"common variable immunodeficiency"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11927"	"TNFSF12"	"MONDO:0015517"	"common variable immunodeficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-07-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b943345a-024d-401d-a147-470c0ea0381c-2022-07-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b943345a-024d-401d-a147-470c0ea0381c"	"2024-04-21"
"GENCC_000102-HGNC_11928-MONDO_0015517-HP_0000007-GENCC_100004"	"HGNC:11928"	"TNFSF13"	"MONDO:0015517"	"common variable immunodeficiency"	"MONDO:0015517"	"common variable immunodeficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11928"	"TNFSF13"	"MONDO:0015517"	"common variable immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-09-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c181d44b-5c48-441b-95ad-b4d06572596d-2022-09-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c181d44b-5c48-441b-95ad-b4d06572596d"	"2024-04-21"
"GENCC_000102-HGNC_11943-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:11943"	"TNNC1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11943"	"TNNC1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d832673-8acb-4a02-ae34-35e0d9981b70-2023-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5d832673-8acb-4a02-ae34-35e0d9981b70"	"2024-04-21"
"GENCC_000102-HGNC_11943-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:11943"	"TNNC1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11943"	"TNNC1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ad71467-74c0-4a7c-932d-c5ca5747e59e-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ad71467-74c0-4a7c-932d-c5ca5747e59e"	"2024-04-21"
"GENCC_000102-HGNC_11943-MONDO_0016587-HP_0000006-GENCC_100008"	"HGNC:11943"	"TNNC1"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11943"	"TNNC1"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2019-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bea34b8c-4260-4dce-bcb3-69be7eb1aa21-2019-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bea34b8c-4260-4dce-bcb3-69be7eb1aa21"	"2024-04-21"
"GENCC_000102-HGNC_11944-MONDO_0005045-HP_0000006-GENCC_100008"	"HGNC:11944"	"TNNC2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11944"	"TNNC2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2023-04-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1048e478-9177-4086-8bcc-7a2ef8f46894-2023-04-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1048e478-9177-4086-8bcc-7a2ef8f46894"	"2024-04-21"
"GENCC_000102-HGNC_11947-MONDO_0016587-HP_0000006-GENCC_100008"	"HGNC:11947"	"TNNI3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11947"	"TNNI3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2019-07-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21c990ca-e407-4a21-a3e2-237700a75d43-2019-07-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"21c990ca-e407-4a21-a3e2-237700a75d43"	"2024-04-21"
"GENCC_000102-HGNC_11947-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:11947"	"TNNI3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11947"	"TNNI3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-09-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a7e6901-d478-44c4-bd03-2c344029d4bb-2017-09-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4a7e6901-d478-44c4-bd03-2c344029d4bb"	"2024-04-21"
"GENCC_000102-HGNC_11947-MONDO_0005021-HP_0000006-GENCC_100003"	"HGNC:11947"	"TNNI3"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11947"	"TNNI3"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_668087ea-0d2f-42c2-a291-f73400d34023-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"668087ea-0d2f-42c2-a291-f73400d34023"	"2024-04-21"
"GENCC_000102-HGNC_19661-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:19661"	"TNNI3K"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19661"	"TNNI3K"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5ce5790-8940-4d7a-a85c-8682be86939d-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f5ce5790-8940-4d7a-a85c-8682be86939d"	"2024-04-21"
"GENCC_000102-HGNC_11948-MONDO_0011539-HP_0000007-GENCC_100001"	"HGNC:11948"	"TNNT1"	"MONDO:0011539"	"nemaline myopathy 5"	"MONDO:0011539"	"nemaline myopathy 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11948"	"TNNT1"	"MONDO:0011539"	"nemaline myopathy 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f993d88-c2f6-42c8-8c2e-c1bb63e1416a-2020-05-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8f993d88-c2f6-42c8-8c2e-c1bb63e1416a"	"2024-04-21"
"GENCC_000102-HGNC_11948-MONDO_0018958-HP_0000006-GENCC_100004"	"HGNC:11948"	"TNNT1"	"MONDO:0018958"	"nemaline myopathy"	"MONDO:0018958"	"nemaline myopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11948"	"TNNT1"	"MONDO:0018958"	"nemaline myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-06-22 14:10:02"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5e1f9d1-b21e-46f6-94ce-10cb551ea92a-2020-06-22T141002.152Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b5e1f9d1-b21e-46f6-94ce-10cb551ea92a"	"2024-04-21"
"GENCC_000102-HGNC_11949-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:11949"	"TNNT2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11949"	"TNNT2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fbdfad-b2d2-45f1-9658-e2e3e02cb413-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20fbdfad-b2d2-45f1-9658-e2e3e02cb413"	"2024-04-21"
"GENCC_000102-HGNC_11949-MONDO_0016587-HP_0000006-GENCC_100008"	"HGNC:11949"	"TNNT2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11949"	"TNNT2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2019-07-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2bde3ff-f75f-40c3-a8fe-10a72e883b3c-2019-07-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d2bde3ff-f75f-40c3-a8fe-10a72e883b3c"	"2024-04-21"
"GENCC_000102-HGNC_11949-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:11949"	"TNNT2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11949"	"TNNT2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef922dc4-4e41-422b-ac3d-605fea375005-2021-02-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ef922dc4-4e41-422b-ac3d-605fea375005"	"2024-04-21"
"GENCC_000102-HGNC_11950-MONDO_0018958-HP_0000007-GENCC_100004"	"HGNC:11950"	"TNNT3"	"MONDO:0018958"	"nemaline myopathy"	"MONDO:0018958"	"nemaline myopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11950"	"TNNT3"	"MONDO:0018958"	"nemaline myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-02-24 14:18:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9617fa6c-fcb4-460a-be4b-2e437267f608-2020-02-24T141842.425Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9617fa6c-fcb4-460a-be4b-2e437267f608"	"2024-04-21"
"GENCC_000102-HGNC_29190-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:29190"	"TNRC6B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29190"	"TNRC6B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a806c490-788f-49b6-b437-6970f5888c07-2021-01-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a806c490-788f-49b6-b437-6970f5888c07"	"2024-04-21"
"GENCC_000102-HGNC_11990-MONDO_0012243-HP_0000006-GENCC_100003"	"HGNC:11990"	"TOP2B"	"MONDO:0012243"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"MONDO:0012243"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11990"	"TOP2B"	"MONDO:0012243"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-10-19 12:57:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_677a64c1-b005-44f6-9846-a7f371222667-2021-10-19T125736.122Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"677a64c1-b005-44f6-9846-a7f371222667"	"2024-04-21"
"GENCC_000102-HGNC_17008-MONDO_0015924-HP_0000006-GENCC_100008"	"HGNC:17008"	"TOPBP1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17008"	"TOPBP1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2022-11-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dfd5fc5-a4cb-4beb-8486-eae7675d08af-2022-11-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8dfd5fc5-a4cb-4beb-8486-eae7675d08af"	"2024-04-21"
"GENCC_000102-HGNC_21653-MONDO_0019118-HP_0000006-GENCC_100001"	"HGNC:21653"	"TOPORS"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21653"	"TOPORS"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d71be46-7f7d-4567-b47d-d67015c3fa74-2023-04-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d71be46-7f7d-4567-b47d-d67015c3fa74"	"2024-04-21"
"GENCC_000102-HGNC_12003-MONDO_0030346-HP_0000007-GENCC_100002"	"HGNC:12003"	"TP73"	"MONDO:0030346"	"ciliary dyskinesia, primary, 47, and lissencephaly"	"MONDO:0030346"	"ciliary dyskinesia, primary, 47, and lissencephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12003"	"TP73"	"MONDO:0030346"	"ciliary dyskinesia, primary, 47, and lissencephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96b17463-2bd0-431c-a8df-0c1ac28a97ab-2023-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"96b17463-2bd0-431c-a8df-0c1ac28a97ab"	"2024-04-21"
"GENCC_000102-HGNC_17358-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:17358"	"TPK1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17358"	"TPK1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-14 21:28:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74e89426-cb27-4474-b892-dc303a9de644-2021-01-14T212800.773Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"74e89426-cb27-4474-b892-dc303a9de644"	"2024-04-21"
"GENCC_000102-HGNC_12010-MONDO_0005021-HP_0000006-GENCC_100003"	"HGNC:12010"	"TPM1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12010"	"TPM1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-11-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1173d239-23cf-4c9c-9ea5-f95d9356e6c7-2020-11-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1173d239-23cf-4c9c-9ea5-f95d9356e6c7"	"2024-04-21"
"GENCC_000102-HGNC_12010-MONDO_0016587-HP_0000006-GENCC_100008"	"HGNC:12010"	"TPM1"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12010"	"TPM1"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2019-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e69d885-a5c6-48de-bb65-0943a6c2268d-2019-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8e69d885-a5c6-48de-bb65-0943a6c2268d"	"2024-04-21"
"GENCC_000102-HGNC_12011-MONDO_0100196-HP_0000006-GENCC_100001"	"HGNC:12011"	"TPM2"	"MONDO:0100196"	"TPM2-related myopathy"	"MONDO:0100196"	"TPM2-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12011"	"TPM2"	"MONDO:0100196"	"TPM2-related myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f137b6cf-247a-4af0-b41f-6cb976239175-2021-01-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f137b6cf-247a-4af0-b41f-6cb976239175"	"2024-04-21"
"GENCC_000102-HGNC_12012-MONDO_0100108-HP_0032113-GENCC_100001"	"HGNC:12012"	"TPM3"	"MONDO:0100108"	"TPM3-related myopathy"	"MONDO:0100108"	"TPM3-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:12012"	"TPM3"	"MONDO:0100108"	"TPM3-related myopathy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-03 21:24:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d76d08c-446b-42d6-ab9c-064fa1b4433f-2020-11-03T212439.729Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2d76d08c-446b-42d6-ab9c-064fa1b4433f"	"2024-04-21"
"GENCC_000102-HGNC_12013-MONDO_0100487-HP_0000006-GENCC_100003"	"HGNC:12013"	"TPM4"	"MONDO:0100487"	"TPM4-related platelet disorder"	"MONDO:0100487"	"TPM4-related platelet disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12013"	"TPM4"	"MONDO:0100487"	"TPM4-related platelet disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-02-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b8bb90f-f190-4e20-8f65-27d236cb7d79-2022-02-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0b8bb90f-f190-4e20-8f65-27d236cb7d79"	"2024-04-21"
"GENCC_000102-HGNC_2073-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:2073"	"TPP1"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2073"	"TPP1"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-26 00:53:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b2f3b20-fb9a-4b5e-ad8e-e03be5ebb8e5-2020-09-26T005342.102Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b2f3b20-fb9a-4b5e-ad8e-e03be5ebb8e5"	"2024-04-21"
"GENCC_000102-HGNC_26894-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:26894"	"TPRN"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26894"	"TPRN"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-09-12 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4dce399-9aeb-452e-a917-3603eb09d11f-2017-09-12T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a4dce399-9aeb-452e-a917-3603eb09d11f"	"2024-04-21"
"GENCC_000102-HGNC_12029-MONDO_0014160-HP_0000007-GENCC_100003"	"HGNC:12029"	"TRAC"	"MONDO:0014160"	"TCR-alpha-beta-positive T-cell deficiency"	"MONDO:0014160"	"TCR-alpha-beta-positive T-cell deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12029"	"TRAC"	"MONDO:0014160"	"TCR-alpha-beta-positive T-cell deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-08-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a49ea507-7acb-4bed-be28-140120adf9fe-2022-08-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a49ea507-7acb-4bed-be28-140120adf9fe"	"2024-04-21"
"GENCC_000102-HGNC_12033-MONDO_0100513-HP_0000006-GENCC_100003"	"HGNC:12033"	"TRAF3"	"MONDO:0100513"	"TRAF3 haploinsufficiency"	"MONDO:0100513"	"TRAF3 haploinsufficiency"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12033"	"TRAF3"	"MONDO:0100513"	"TRAF3 haploinsufficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd75b152-5853-4a4e-b1c4-04d1d0c27a38-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cd75b152-5853-4a4e-b1c4-04d1d0c27a38"	"2024-04-21"
"GENCC_000102-HGNC_25751-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:25751"	"TRAPPC11"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25751"	"TRAPPC11"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b835ba1-afbd-48ac-afec-b9396acc5521-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8b835ba1-afbd-48ac-afec-b9396acc5521"	"2024-04-21"
"GENCC_000102-HGNC_19943-MONDO_0032894-HP_0000007-GENCC_100001"	"HGNC:19943"	"TRAPPC4"	"MONDO:0032894"	"neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"MONDO:0032894"	"neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19943"	"TRAPPC4"	"MONDO:0032894"	"neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51f66c13-6d48-48c0-b8d7-2ba58dd7a09d-2024-01-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"51f66c13-6d48-48c0-b8d7-2ba58dd7a09d"	"2024-04-21"
"GENCC_000102-HGNC_30832-MONDO_0018123-HP_0000007-GENCC_100001"	"HGNC:30832"	"TRAPPC9"	"MONDO:0018123"	"intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"	"MONDO:0018123"	"intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30832"	"TRAPPC9"	"MONDO:0018123"	"intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_456bfabf-5cad-4a08-bf21-3611a6fbf9b1-2020-08-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"456bfabf-5cad-4a08-bf21-3611a6fbf9b1"	"2024-04-21"
"GENCC_000102-HGNC_12261-MONDO_0002442-HP_0000007-GENCC_100002"	"HGNC:12261"	"TRDN"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12261"	"TRDN"	"MONDO:0002442"	"long QT syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2020-04-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1278bd6a-6ac7-4556-87ea-f860027b2da5-2020-04-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1278bd6a-6ac7-4556-87ea-f860027b2da5"	"2024-04-21"
"GENCC_000102-HGNC_12261-MONDO_0017990-HP_0000007-GENCC_100001"	"HGNC:12261"	"TRDN"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12261"	"TRDN"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a86167e8-9010-488d-b5bb-1f29e805bd91-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a86167e8-9010-488d-b5bb-1f29e805bd91"	"2024-04-21"
"GENCC_000102-HGNC_16380-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:16380"	"TRIM32"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16380"	"TRIM32"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-05 21:01:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbabe4ea-579e-4d98-a4b7-5ff84ee7f245-2020-11-05T210106.630Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fbabe4ea-579e-4d98-a4b7-5ff84ee7f245"	"2024-04-21"
"GENCC_000102-HGNC_7523-MONDO_0009664-HP_0000007-GENCC_100001"	"HGNC:7523"	"TRIM37"	"MONDO:0009664"	"mulibrey nanism"	"MONDO:0009664"	"mulibrey nanism"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7523"	"TRIM37"	"MONDO:0009664"	"mulibrey nanism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0faa569d-4e0c-4809-a1b2-a93d460751e8-2020-05-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0faa569d-4e0c-4809-a1b2-a93d460751e8"	"2024-04-21"
"GENCC_000102-HGNC_16007-MONDO_0005045-HP_0000007-GENCC_100003"	"HGNC:16007"	"TRIM63"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16007"	"TRIM63"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e8365b8-3238-4844-8392-58f66be7f318-2022-11-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e8365b8-3238-4844-8392-58f66be7f318"	"2024-04-21"
"GENCC_000102-HGNC_16007-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:16007"	"TRIM63"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16007"	"TRIM63"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9f35d3c-2d30-4947-9d10-87d21405586e-2022-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d9f35d3c-2d30-4947-9d10-87d21405586e"	"2024-04-21"
"GENCC_000102-HGNC_15579-MONDO_0100111-HP_0000006-GENCC_100001"	"HGNC:15579"	"TRIM8"	"MONDO:0100111"	"focal segmental glomerulosclerosis and neurodevelopmental syndrome"	"MONDO:0100111"	"focal segmental glomerulosclerosis and neurodevelopmental syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15579"	"TRIM8"	"MONDO:0100111"	"focal segmental glomerulosclerosis and neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_457fd90a-dad8-4711-97d0-59eb240a299e-2021-10-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"457fd90a-dad8-4711-97d0-59eb240a299e"	"2024-04-21"
"GENCC_000102-HGNC_12303-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:12303"	"TRIO"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12303"	"TRIO"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-18 19:20:46"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff3b6c9b-4c51-4414-b92c-20e45758ab61-2021-11-18T192046.961Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff3b6c9b-4c51-4414-b92c-20e45758ab61"	"2024-04-21"
"GENCC_000102-HGNC_17009-MONDO_0019588-HP_0000007-GENCC_100001"	"HGNC:17009"	"TRIOBP"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17009"	"TRIOBP"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-06-06 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9543"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9543"	"2024-04-21"
"GENCC_000102-HGNC_12306-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:12306"	"TRIP12"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12306"	"TRIP12"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-05 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_011b99b3-0d17-4615-800e-36f4bacd8117-2022-04-05T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"011b99b3-0d17-4615-800e-36f4bacd8117"	"2024-04-21"
"GENCC_000102-HGNC_20286-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:20286"	"TRIT1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20286"	"TRIT1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0473ea4b-40cb-4f4c-b986-e96b1ae18a9f-2022-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0473ea4b-40cb-4f4c-b986-e96b1ae18a9f"	"2024-04-21"
"GENCC_000102-HGNC_26022-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:26022"	"TRMT10C"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26022"	"TRMT10C"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5406ef5-ce74-4762-9709-8791775bccac-2022-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f5406ef5-ce74-4762-9709-8791775bccac"	"2024-04-21"
"GENCC_000102-HGNC_23141-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:23141"	"TRMT5"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23141"	"TRMT5"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d1268d1-4c34-4ab0-a7fd-ef5ccc90415f-2022-07-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4d1268d1-4c34-4ab0-a7fd-ef5ccc90415f"	"2024-04-21"
"GENCC_000102-HGNC_25481-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:25481"	"TRMU"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25481"	"TRMU"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-21 00:47:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d9d958-be13-4018-ab9c-305788171d1e-2021-01-21T004755.799Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1d9d958-be13-4018-ab9c-305788171d1e"	"2024-04-21"
"GENCC_000102-HGNC_17341-MONDO_0014487-HP_0000007-GENCC_100001"	"HGNC:17341"	"TRNT1"	"MONDO:0014487"	"congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	"MONDO:0014487"	"congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17341"	"TRNT1"	"MONDO:0014487"	"congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-30 12:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6df64a62-650c-4659-b2e8-ee51263fcdbc-2022-10-30T120000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6df64a62-650c-4659-b2e8-ee51263fcdbc"	"2024-04-21"
"GENCC_000102-HGNC_7146-MONDO_0800402-HP_0000007-GENCC_100001"	"HGNC:7146"	"TRPM1"	"MONDO:0800402"	"TRPM1-related retinopathy"	"MONDO:0800402"	"TRPM1-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7146"	"TRPM1"	"MONDO:0800402"	"TRPM1-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ecc95d2-f47b-4238-9475-2bd96f4b92db-2022-10-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5ecc95d2-f47b-4238-9475-2bd96f4b92db"	"2024-04-21"
"GENCC_000102-HGNC_17993-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:17993"	"TRPM4"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17993"	"TRPM4"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10164"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10164"	"2024-04-21"
"GENCC_000102-HGNC_18083-MONDO_0018240-HP_0000006-GENCC_100001"	"HGNC:18083"	"TRPV4"	"MONDO:0018240"	"TRPV4-related bone disorder"	"MONDO:0018240"	"TRPV4-related bone disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18083"	"TRPV4"	"MONDO:0018240"	"TRPV4-related bone disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13bce420-9049-41ae-b1e8-ebcae68a3f9e-2023-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"13bce420-9049-41ae-b1e8-ebcae68a3f9e"	"2024-04-21"
"GENCC_000102-HGNC_18083-MONDO_0019056-HP_0000006-GENCC_100001"	"HGNC:18083"	"TRPV4"	"MONDO:0019056"	"neuromuscular disease"	"MONDO:0019056"	"neuromuscular disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18083"	"TRPV4"	"MONDO:0019056"	"neuromuscular disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-14 14:53:10"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b89b03c3-24c7-4424-989c-abd65eb2b7ec-2021-12-14T145310.482Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b89b03c3-24c7-4424-989c-abd65eb2b7ec"	"2024-04-21"
"GENCC_000102-HGNC_12347-MONDO_0100465-HP_0000006-GENCC_100001"	"HGNC:12347"	"TRRAP"	"MONDO:0100465"	"complex neurodevelopmental disorder with or without congenital anomalies"	"MONDO:0100465"	"complex neurodevelopmental disorder with or without congenital anomalies"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12347"	"TRRAP"	"MONDO:0100465"	"complex neurodevelopmental disorder with or without congenital anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-19 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03424cde-a847-4bd0-91eb-9707a7e51fa2-2022-07-19T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03424cde-a847-4bd0-91eb-9707a7e51fa2"	"2024-04-21"
"GENCC_000102-HGNC_12362-MONDO_0001734-HP_0000006-GENCC_100001"	"HGNC:12362"	"TSC1"	"MONDO:0001734"	"tuberous sclerosis"	"MONDO:0001734"	"tuberous sclerosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12362"	"TSC1"	"MONDO:0001734"	"tuberous sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b07bb0-1385-4344-8b6c-571f6a271000-2019-01-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"61b07bb0-1385-4344-8b6c-571f6a271000"	"2024-04-21"
"GENCC_000102-HGNC_12363-MONDO_0001734-HP_0000006-GENCC_100001"	"HGNC:12363"	"TSC2"	"MONDO:0001734"	"tuberous sclerosis"	"MONDO:0001734"	"tuberous sclerosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12363"	"TSC2"	"MONDO:0001734"	"tuberous sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b0a33ff-44ca-497c-8499-cc1f50cead93-2019-01-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0b0a33ff-44ca-497c-8499-cc1f50cead93"	"2024-04-21"
"GENCC_000102-HGNC_12367-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:12367"	"TSFM"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12367"	"TSFM"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-02-12 19:55:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3d30a3f-a054-4812-9b97-116a8834fcb1-2020-02-12T195529.785Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e3d30a3f-a054-4812-9b97-116a8834fcb1"	"2024-04-21"
"GENCC_000102-HGNC_10669-MONDO_0011921-HP_0000006-GENCC_100004"	"HGNC:10669"	"TSHZ1"	"MONDO:0011921"	"aural atresia, congenital"	"MONDO:0011921"	"aural atresia, congenital"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10669"	"TSHZ1"	"MONDO:0011921"	"aural atresia, congenital"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-25 13:04:20"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfbe0bb6-f9c6-447b-bec9-911af6a67566-2020-08-25T130420.457Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cfbe0bb6-f9c6-447b-bec9-911af6a67566"	"2024-04-21"
"GENCC_000102-HGNC_21641-MONDO_0100484-HP_0032113-GENCC_100001"	"HGNC:21641"	"TSPAN12"	"MONDO:0100484"	"TSPAN12-related vitreoretinopathy"	"MONDO:0100484"	"TSPAN12-related vitreoretinopathy"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:21641"	"TSPAN12"	"MONDO:0100484"	"TSPAN12-related vitreoretinopathy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-02 22:29:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c7915a6-c4eb-47c7-9c51-a81279b6e6a4-2022-03-02T222900.086Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9c7915a6-c4eb-47c7-9c51-a81279b6e6a4"	"2024-04-21"
"GENCC_000102-HGNC_11854-MONDO_0019181-HP_0001417-GENCC_100003"	"HGNC:11854"	"TSPAN7"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11854"	"TSPAN7"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-12-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2716e7b3-e038-421a-b584-55f6797502a4-2020-12-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2716e7b3-e038-421a-b584-55f6797502a4"	"2024-04-21"
"GENCC_000102-HGNC_1268-MONDO_0019497-HP_0000007-GENCC_100005"	"HGNC:1268"	"TSPEAR"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1268"	"TSPEAR"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-09-26 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0928b06-d3bb-41fe-8222-d7f0e6c0a25a-2017-09-26T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f0928b06-d3bb-41fe-8222-d7f0e6c0a25a"	"2024-04-21"
"GENCC_000102-HGNC_26006-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:26006"	"TTC19"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26006"	"TTC19"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-19 16:01:32"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dc9dcb6-1f63-41b1-80f1-a0f2a87b5ec4-2019-09-19T160132.570Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8dc9dcb6-1f63-41b1-80f1-a0f2a87b5ec4"	"2024-04-21"
"GENCC_000102-HGNC_25660-MONDO_0013442-HP_0000007-GENCC_100001"	"HGNC:25660"	"TTC21B"	"MONDO:0013442"	"nephronophthisis 12"	"MONDO:0013442"	"nephronophthisis 12"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25660"	"TTC21B"	"MONDO:0013442"	"nephronophthisis 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60f93fe0-145f-47a7-9ecf-613b1b1dfa7f-2021-11-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"60f93fe0-145f-47a7-9ecf-613b1b1dfa7f"	"2024-04-21"
"GENCC_000102-HGNC_19750-MONDO_0009465-HP_0000007-GENCC_100001"	"HGNC:19750"	"TTC7A"	"MONDO:0009465"	"multiple intestinal atresia"	"MONDO:0009465"	"multiple intestinal atresia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19750"	"TTC7A"	"MONDO:0009465"	"multiple intestinal atresia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-21 18:45:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80cadac5-067c-49e7-a021-ee4eec83984a-2021-10-21T184517.744Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"80cadac5-067c-49e7-a021-ee4eec83984a"	"2024-04-21"
"GENCC_000102-HGNC_19963-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:19963"	"TTLL5"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19963"	"TTLL5"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db2083b7-fe3d-459e-8874-35ed9ebb0785-2023-10-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db2083b7-fe3d-459e-8874-35ed9ebb0785"	"2024-04-21"
"GENCC_000102-HGNC_12403-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:12403"	"TTN"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12403"	"TTN"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-06 18:21:52"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ec53217-814e-44b3-a7b7-0f18311c20f3-2020-11-06T182152.992Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1ec53217-814e-44b3-a7b7-0f18311c20f3"	"2024-04-21"
"GENCC_000102-HGNC_12403-MONDO_0100175-HP_0000007-GENCC_100001"	"HGNC:12403"	"TTN"	"MONDO:0100175"	"TTN-related myopathy"	"MONDO:0100175"	"TTN-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12403"	"TTN"	"MONDO:0100175"	"TTN-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41ead80d-f134-43e5-9373-ac55bdcfc0a1-2022-01-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41ead80d-f134-43e5-9373-ac55bdcfc0a1"	"2024-04-21"
"GENCC_000102-HGNC_12403-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:12403"	"TTN"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12403"	"TTN"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-08-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a93ab74d-c9fa-4e74-b849-c8c6e8366050-2019-08-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a93ab74d-c9fa-4e74-b849-c8c6e8366050"	"2024-04-21"
"GENCC_000102-HGNC_12403-MONDO_0011362-HP_0000006-GENCC_100003"	"HGNC:12403"	"TTN"	"MONDO:0011362"	"myopathy, myofibrillar, 9, with early respiratory failure"	"MONDO:0011362"	"myopathy, myofibrillar, 9, with early respiratory failure"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12403"	"TTN"	"MONDO:0011362"	"myopathy, myofibrillar, 9, with early respiratory failure"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-14 20:51:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bade9ef3-17fa-42ee-a2d7-9c9b985b1503-2022-03-14T205117.630Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bade9ef3-17fa-42ee-a2d7-9c9b985b1503"	"2024-04-21"
"GENCC_000102-HGNC_12403-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:12403"	"TTN"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12403"	"TTN"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-07-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c17e22eb-c6fc-487d-bcf6-001bb85fdabd-2023-07-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c17e22eb-c6fc-487d-bcf6-001bb85fdabd"	"2024-04-21"
"GENCC_000102-HGNC_12403-MONDO_0010870-HP_0000006-GENCC_100003"	"HGNC:12403"	"TTN"	"MONDO:0010870"	"tibial muscular dystrophy"	"MONDO:0010870"	"tibial muscular dystrophy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12403"	"TTN"	"MONDO:0010870"	"tibial muscular dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-14 20:50:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec556f45-8dbc-43f0-96df-29e69d7f3411-2022-03-14T205017.462Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ec556f45-8dbc-43f0-96df-29e69d7f3411"	"2024-04-21"
"GENCC_000102-HGNC_12405-MONDO_0017132-HP_0000006-GENCC_100001"	"HGNC:12405"	"TTR"	"MONDO:0017132"	"hereditary ATTR amyloidosis"	"MONDO:0017132"	"hereditary ATTR amyloidosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12405"	"TTR"	"MONDO:0017132"	"obsolete hereditary ATTR amyloidosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-11 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a189cf4-767c-405c-80dc-4aa1727f6f73-2017-12-11T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8a189cf4-767c-405c-80dc-4aa1727f6f73"	"2024-04-21"
"GENCC_000102-HGNC_20766-MONDO_0100153-HP_0000006-GENCC_100001"	"HGNC:20766"	"TUBA1A"	"MONDO:0100153"	"tubulinopathy"	"MONDO:0100153"	"tubulinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20766"	"TUBA1A"	"MONDO:0100153"	"tubulinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ee155a3-371d-4618-849c-38adc95728ee-2024-03-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ee155a3-371d-4618-849c-38adc95728ee"	"2024-04-21"
"GENCC_000102-HGNC_12407-MONDO_0014531-HP_0000006-GENCC_100003"	"HGNC:12407"	"TUBA4A"	"MONDO:0014531"	"amyotrophic lateral sclerosis type 22"	"MONDO:0014531"	"amyotrophic lateral sclerosis type 22"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12407"	"TUBA4A"	"MONDO:0014531"	"amyotrophic lateral sclerosis type 22"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-09-14 19:13:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7349d6e4-f351-4a8a-80f6-af62d3e716e5-2021-09-14T191334.954Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7349d6e4-f351-4a8a-80f6-af62d3e716e5"	"2024-04-21"
"GENCC_000102-HGNC_12407-MONDO_0015372-HP_0000006-GENCC_100004"	"HGNC:12407"	"TUBA4A"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12407"	"TUBA4A"	"MONDO:0015372"	"autosomal dominant macrothrombocytopenia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d595dc4-2fa3-478a-a7b7-ffb499fa2ab7-2023-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7d595dc4-2fa3-478a-a7b7-ffb499fa2ab7"	"2024-04-21"
"GENCC_000102-HGNC_12410-MONDO_0013172-HP_0000007-GENCC_100005"	"HGNC:12410"	"TUBA8"	"MONDO:0013172"	"polymicrogyria with optic nerve hypoplasia"	"MONDO:0013172"	"polymicrogyria with optic nerve hypoplasia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12410"	"TUBA8"	"MONDO:0013172"	"polymicrogyria with optic nerve hypoplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-12-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bd5681e-2a42-4bbb-be5f-dabe6efa5334-2023-12-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9bd5681e-2a42-4bbb-be5f-dabe6efa5334"	"2024-04-21"
"GENCC_000102-HGNC_16257-MONDO_0800047-HP_0000006-GENCC_100001"	"HGNC:16257"	"TUBB1"	"MONDO:0800047"	"macrothrombocytopenia, isolated, 1, autosomal dominant"	"MONDO:0800047"	"macrothrombocytopenia, isolated, 1, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16257"	"TUBB1"	"MONDO:0800047"	"macrothrombocytopenia, isolated, 1, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-23 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbf068c4-8e07-4861-8eee-8e7d9572b122-2019-10-23T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dbf068c4-8e07-4861-8eee-8e7d9572b122"	"2024-04-21"
"GENCC_000102-HGNC_12412-MONDO_0100153-HP_0000006-GENCC_100001"	"HGNC:12412"	"TUBB2A"	"MONDO:0100153"	"tubulinopathy"	"MONDO:0100153"	"tubulinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12412"	"TUBB2A"	"MONDO:0100153"	"tubulinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cafcf34-7bc2-4b06-9455-f7fad2e0b6b5-2023-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7cafcf34-7bc2-4b06-9455-f7fad2e0b6b5"	"2024-04-21"
"GENCC_000102-HGNC_30829-MONDO_0000904-HP_0000006-GENCC_100001"	"HGNC:30829"	"TUBB2B"	"MONDO:0000904"	"complex cortical dysplasia with other brain malformations"	"MONDO:0000904"	"complex cortical dysplasia with other brain malformations"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30829"	"TUBB2B"	"MONDO:0000904"	"complex cortical dysplasia with other brain malformations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-26 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81ced164-4ef1-4256-a727-84e79930efcc-2020-04-26T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"81ced164-4ef1-4256-a727-84e79930efcc"	"2024-04-21"
"GENCC_000102-HGNC_20774-MONDO_0800470-HP_0000006-GENCC_100001"	"HGNC:20774"	"TUBB4A"	"MONDO:0800470"	"TUBB4A-related neurologic disorder"	"MONDO:0800470"	"TUBB4A-related neurologic disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20774"	"TUBB4A"	"MONDO:0800470"	"TUBB4A-related neurologic disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37d63695-b5d4-48e2-8c20-38cfafaea017-2024-03-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"37d63695-b5d4-48e2-8c20-38cfafaea017"	"2024-04-21"
"GENCC_000102-HGNC_20771-MONDO_0060650-HP_0000006-GENCC_100003"	"HGNC:20771"	"TUBB4B"	"MONDO:0060650"	"Leber congenital amaurosis with early-onset deafness"	"MONDO:0060650"	"Leber congenital amaurosis with early-onset deafness"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20771"	"TUBB4B"	"MONDO:0060650"	"Leber congenital amaurosis with early-onset deafness"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2018-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b80d55d-0060-4b1c-849b-648011337400-2018-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3b80d55d-0060-4b1c-849b-648011337400"	"2024-04-21"
"GENCC_000102-HGNC_12417-MONDO_0018838-HP_0000006-GENCC_100001"	"HGNC:12417"	"TUBG1"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12417"	"TUBG1"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f773acb3-c59f-4c34-90f7-b5396b2dbfac-2022-04-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f773acb3-c59f-4c34-90f7-b5396b2dbfac"	"2024-04-21"
"GENCC_000102-HGNC_18127-MONDO_0009624-HP_0000007-GENCC_100001"	"HGNC:18127"	"TUBGCP6"	"MONDO:0009624"	"microcephaly and chorioretinopathy 1"	"MONDO:0009624"	"microcephaly and chorioretinopathy 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18127"	"TUBGCP6"	"MONDO:0009624"	"microcephaly and chorioretinopathy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccb03ff1-94d3-4387-b312-ac8e38d83d89-2023-06-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ccb03ff1-94d3-4387-b312-ac8e38d83d89"	"2024-04-21"
"GENCC_000102-HGNC_12425-MONDO_0005308-HP_0000007-GENCC_100002"	"HGNC:12425"	"TULP3"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12425"	"TULP3"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-07-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f45b6a3-7f38-436f-bfde-beac067fdb88-2022-07-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6f45b6a3-7f38-436f-bfde-beac067fdb88"	"2024-04-21"
"GENCC_000102-HGNC_30242-MONDO_0001071-HP_0000007-GENCC_100001"	"HGNC:30242"	"TUSC3"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30242"	"TUSC3"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db38ed95-d1fe-43d6-bf80-c5e3f24f7d1b-2020-04-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db38ed95-d1fe-43d6-bf80-c5e3f24f7d1b"	"2024-04-21"
"GENCC_000102-HGNC_12428-MONDO_0060592-HP_0000006-GENCC_100004"	"HGNC:12428"	"TWIST1"	"MONDO:0060592"	"Sweeney-Cox syndrome"	"MONDO:0060592"	"Sweeney-Cox syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12428"	"TWIST1"	"MONDO:0060592"	"Sweeney-Cox syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-03-26 21:32:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14ba10ad-ebb5-491f-b4d6-639890ab7ab9-2021-03-26T213222.762Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14ba10ad-ebb5-491f-b4d6-639890ab7ab9"	"2024-04-21"
"GENCC_000102-HGNC_12428-MONDO_0007042-HP_0000006-GENCC_100001"	"HGNC:12428"	"TWIST1"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12428"	"TWIST1"	"MONDO:0007042"	"Saethre-Chotzen syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-28 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1730a1bb-49c2-4c11-8c45-e8747d8fb91d-2021-01-28T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1730a1bb-49c2-4c11-8c45-e8747d8fb91d"	"2024-04-21"
"GENCC_000102-HGNC_12428-MONDO_0007399-HP_0000006-GENCC_100003"	"HGNC:12428"	"TWIST1"	"MONDO:0007399"	"TWIST1-related craniosynostosis"	"MONDO:0007399"	"TWIST1-related craniosynostosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12428"	"TWIST1"	"MONDO:0007399"	"TWIST1-related craniosynostosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bda425f8-b760-4484-9336-b3e572d402ab-2021-06-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bda425f8-b760-4484-9336-b3e572d402ab"	"2024-04-21"
"GENCC_000102-HGNC_30551-MONDO_0012064-HP_0000007-GENCC_100001"	"HGNC:30551"	"TXNL4A"	"MONDO:0012064"	"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	"MONDO:0012064"	"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30551"	"TXNL4A"	"MONDO:0012064"	"choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bac99de0-8f34-4166-b8ef-a5c44290281c-2024-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bac99de0-8f34-4166-b8ef-a5c44290281c"	"2024-04-21"
"GENCC_000102-HGNC_3148-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:3148"	"TYMP"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3148"	"TYMP"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-02 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4efaa60a-76b6-4f99-bf9d-1c91b2b3ce74-2023-10-02T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4efaa60a-76b6-4f99-bf9d-1c91b2b3ce74"	"2024-04-21"
"GENCC_000102-HGNC_12442-MONDO_0018135-HP_0000007-GENCC_100001"	"HGNC:12442"	"TYR"	"MONDO:0018135"	"oculocutaneous albinism type 1"	"MONDO:0018135"	"oculocutaneous albinism type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12442"	"TYR"	"MONDO:0018135"	"oculocutaneous albinism type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9b52af2-1674-4f3d-9d7f-398a5f7f6875-2020-08-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c9b52af2-1674-4f3d-9d7f-398a5f7f6875"	"2024-04-21"
"GENCC_000102-HGNC_12472-MONDO_0010461-HP_0001417-GENCC_100001"	"HGNC:12472"	"UBE2A"	"MONDO:0010461"	"syndromic X-linked intellectual disability Nascimento type"	"MONDO:0010461"	"syndromic X-linked intellectual disability Nascimento type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:12472"	"UBE2A"	"MONDO:0010461"	"syndromic X-linked intellectual disability Nascimento type"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94765cdb-fe12-4098-b28e-20cd58744271-2018-07-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"94765cdb-fe12-4098-b28e-20cd58744271"	"2024-04-21"
"GENCC_000102-HGNC_12496-MONDO_0007113-HP_0000006-GENCC_100001"	"HGNC:12496"	"UBE3A"	"MONDO:0007113"	"Angelman syndrome"	"MONDO:0007113"	"Angelman syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12496"	"UBE3A"	"MONDO:0007113"	"Angelman syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-02 13:23:44"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df25de82-ea9a-4d86-8b42-6587a39650e3-2018-05-02T132344.716Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"df25de82-ea9a-4d86-8b42-6587a39650e3"	"2024-04-21"
"GENCC_000102-HGNC_13478-MONDO_0009485-HP_0000007-GENCC_100001"	"HGNC:13478"	"UBE3B"	"MONDO:0009485"	"oculocerebrofacial syndrome, Kaufman type"	"MONDO:0009485"	"oculocerebrofacial syndrome, Kaufman type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13478"	"UBE3B"	"MONDO:0009485"	"oculocerebrofacial syndrome, Kaufman type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-30 13:03:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5604d13c-a46a-4a83-87ec-e4e94bbed3f0-2021-07-30T130354.346Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5604d13c-a46a-4a83-87ec-e4e94bbed3f0"	"2024-04-21"
"GENCC_000102-HGNC_12509-MONDO_0010459-HP_0001417-GENCC_100001"	"HGNC:12509"	"UBQLN2"	"MONDO:0010459"	"amyotrophic lateral sclerosis type 15"	"MONDO:0010459"	"amyotrophic lateral sclerosis type 15"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:12509"	"UBQLN2"	"MONDO:0010459"	"amyotrophic lateral sclerosis type 15"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-13 19:46:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17c06f6e-6fe1-4a61-bc35-026416e31dbb-2021-04-13T194634.543Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"17c06f6e-6fe1-4a61-bc35-026416e31dbb"	"2024-04-21"
"GENCC_000102-HGNC_12511-MONDO_0044701-HP_0000006-GENCC_100001"	"HGNC:12511"	"UBTF"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12511"	"UBTF"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-16 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a5d6060-b955-49a0-9804-265838495310-2023-08-16T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1a5d6060-b955-49a0-9804-265838495310"	"2024-04-21"
"GENCC_000102-HGNC_12559-MONDO_0008264-HP_0000006-GENCC_100001"	"HGNC:12559"	"UMOD"	"MONDO:0008264"	"autosomal dominant medullary cystic kidney disease with or without hyperuricemia"	"MONDO:0008264"	"autosomal dominant medullary cystic kidney disease with or without hyperuricemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12559"	"UMOD"	"MONDO:0008264"	"autosomal dominant medullary cystic kidney disease with or without hyperuricemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39233b4e-a491-47b4-8407-2e15dda89221-2021-01-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"39233b4e-a491-47b4-8407-2e15dda89221"	"2024-04-21"
"GENCC_000102-HGNC_23147-MONDO_0012146-HP_0000007-GENCC_100001"	"HGNC:23147"	"UNC13D"	"MONDO:0012146"	"familial hemophagocytic lymphohistiocytosis 3"	"MONDO:0012146"	"familial hemophagocytic lymphohistiocytosis 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23147"	"UNC13D"	"MONDO:0012146"	"familial hemophagocytic lymphohistiocytosis 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b2b30c4-5544-476f-8c2f-c2511c69ccfc-2024-01-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1b2b30c4-5544-476f-8c2f-c2511c69ccfc"	"2024-04-21"
"GENCC_000102-HGNC_26582-MONDO_0014777-HP_0000007-GENCC_100001"	"HGNC:26582"	"UNC80"	"MONDO:0014777"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	"MONDO:0014777"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26582"	"UNC80"	"MONDO:0014777"	"hypotonia, infantile, with psychomotor retardation and characteristic facies 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-30 13:43:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7639160a-1761-4dcb-98de-2aeb61b2b080-2021-07-30T134337.292Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7639160a-1761-4dcb-98de-2aeb61b2b080"	"2024-04-21"
"GENCC_000102-HGNC_12572-MONDO_0011971-HP_0000007-GENCC_100003"	"HGNC:12572"	"UNG"	"MONDO:0011971"	"hyper-IgM syndrome type 5"	"MONDO:0011971"	"hyper-IgM syndrome type 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12572"	"UNG"	"MONDO:0011971"	"hyper-IgM syndrome type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-08-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_336745e2-39bc-429c-8b0d-fd73216522a5-2021-08-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"336745e2-39bc-429c-8b0d-fd73216522a5"	"2024-04-21"
"GENCC_000102-HGNC_20439-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:20439"	"UPF3B"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:20439"	"UPF3B"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1caf030-ef58-4f8f-ba40-aabbf81cf6b1-2019-07-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a1caf030-ef58-4f8f-ba40-aabbf81cf6b1"	"2024-04-21"
"GENCC_000102-HGNC_12580-MONDO_0019719-HP_0000006-GENCC_100005"	"HGNC:12580"	"UPK3A"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12580"	"UPK3A"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-01-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_825a0eca-b652-43f4-a258-98cdd32751df-2023-01-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"825a0eca-b652-43f4-a258-98cdd32751df"	"2024-04-21"
"GENCC_000102-HGNC_12586-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:12586"	"UQCRC2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12586"	"UQCRC2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82ab14de-02cb-477a-89dd-20210c103ead-2022-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82ab14de-02cb-477a-89dd-20210c103ead"	"2024-04-21"
"GENCC_000102-HGNC_29594-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:29594"	"UQCRQ"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29594"	"UQCRQ"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-10-16 14:46:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bf205a2-6eb3-40aa-b3dd-54c19ce6e6f7-2019-10-16T144656.909Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9bf205a2-6eb3-40aa-b3dd-54c19ce6e6f7"	"2024-04-21"
"GENCC_000102-HGNC_26444-MONDO_0010167-HP_0000007-GENCC_100004"	"HGNC:26444"	"UROC1"	"MONDO:0010167"	"urocanic aciduria"	"MONDO:0010167"	"urocanic aciduria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26444"	"UROC1"	"MONDO:0010167"	"urocanic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-11-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af2ff293-39ce-46b7-af58-01e3685f4334-2020-11-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"af2ff293-39ce-46b7-af58-01e3685f4334"	"2024-04-21"
"GENCC_000102-HGNC_12591-MONDO_0100498-HP_0032113-GENCC_100001"	"HGNC:12591"	"UROD"	"MONDO:0100498"	"UROD-related inherited porphyria"	"MONDO:0100498"	"UROD-related inherited porphyria"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:12591"	"UROD"	"MONDO:0100498"	"UROD-related inherited porphyria"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_992eb049-9b4f-4163-bcb0-c7a0656cb93e-2022-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"992eb049-9b4f-4163-bcb0-c7a0656cb93e"	"2024-04-21"
"GENCC_000102-HGNC_12597-MONDO_0010168-HP_0000007-GENCC_100001"	"HGNC:12597"	"USH1C"	"MONDO:0010168"	"Usher syndrome type 1"	"MONDO:0010168"	"Usher syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12597"	"USH1C"	"MONDO:0010168"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5664"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5664"	"2024-04-21"
"GENCC_000102-HGNC_12597-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:12597"	"USH1C"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12597"	"USH1C"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-06-11 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4194490-1b41-4d6d-be63-4a2a8827bb85-2018-06-11T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f4194490-1b41-4d6d-be63-4a2a8827bb85"	"2024-04-21"
"GENCC_000102-HGNC_16356-MONDO_0010168-HP_0000007-GENCC_100001"	"HGNC:16356"	"USH1G"	"MONDO:0010168"	"Usher syndrome type 1"	"MONDO:0010168"	"Usher syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16356"	"USH1G"	"MONDO:0010168"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5660"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5660"	"2024-04-21"
"GENCC_000102-HGNC_16356-MONDO_0019497-HP_0000007-GENCC_100005"	"HGNC:16356"	"USH1G"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16356"	"USH1G"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2019-05-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02c62d06-b496-4a48-a514-56a772fae071-2019-05-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"02c62d06-b496-4a48-a514-56a772fae071"	"2024-04-21"
"GENCC_000102-HGNC_12601-MONDO_0016484-HP_0000007-GENCC_100001"	"HGNC:12601"	"USH2A"	"MONDO:0016484"	"Usher syndrome type 2"	"MONDO:0016484"	"Usher syndrome type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12601"	"USH2A"	"MONDO:0016484"	"Usher syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5661"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5661"	"2024-04-21"
"GENCC_000102-HGNC_13486-MONDO_0100284-HP_0001417-GENCC_100004"	"HGNC:13486"	"USP27X"	"MONDO:0100284"	"X-linked intellectual disability"	"MONDO:0100284"	"X-linked intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:13486"	"USP27X"	"MONDO:0100284"	"X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-01 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6aeec40-3974-4c03-8ac3-8f0fdd614d41-2023-02-01T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f6aeec40-3974-4c03-8ac3-8f0fdd614d41"	"2024-04-21"
"GENCC_000102-HGNC_12630-MONDO_0014805-HP_0000006-GENCC_100001"	"HGNC:12630"	"USP7"	"MONDO:0014805"	"Hao-Fountain syndrome"	"MONDO:0014805"	"Hao-Fountain syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12630"	"USP7"	"MONDO:0014805"	"Hao-Fountain syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-03 18:21:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e4961fa-f972-4e82-ac29-a511ff954529-2021-09-03T182145.545Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7e4961fa-f972-4e82-ac29-a511ff954529"	"2024-04-21"
"GENCC_000102-HGNC_12632-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:12632"	"USP9X"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:12632"	"USP9X"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-17 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd411e83-8373-44b7-8ad5-00894c873880-2021-11-17T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bd411e83-8373-44b7-8ad5-00894c873880"	"2024-04-21"
"GENCC_000102-HGNC_12649-MONDO_0012077-HP_0000006-GENCC_100001"	"HGNC:12649"	"VAPB"	"MONDO:0012077"	"amyotrophic lateral sclerosis type 8"	"MONDO:0012077"	"amyotrophic lateral sclerosis type 8"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12649"	"VAPB"	"MONDO:0012077"	"amyotrophic lateral sclerosis type 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-15 18:30:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da78d57d-1525-47b3-a649-743186d28eff-2021-12-15T183034.352Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"da78d57d-1525-47b3-a649-743186d28eff"	"2024-04-21"
"GENCC_000102-HGNC_12651-MONDO_0060621-HP_0000007-GENCC_100001"	"HGNC:12651"	"VARS1"	"MONDO:0060621"	"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"	"MONDO:0060621"	"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12651"	"VARS1"	"MONDO:0060621"	"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8f282f2-3313-44b8-a0f8-b3f52374a11a-2023-12-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a8f282f2-3313-44b8-a0f8-b3f52374a11a"	"2024-04-21"
"GENCC_000102-HGNC_21642-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:21642"	"VARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21642"	"VARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca9dc1e7-f79c-472e-b6ea-5d38aaf61bea-2022-05-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca9dc1e7-f79c-472e-b6ea-5d38aaf61bea"	"2024-04-21"
"GENCC_000102-HGNC_2464-MONDO_0007740-HP_0000006-GENCC_100001"	"HGNC:2464"	"VCAN"	"MONDO:0007740"	"Wagner disease"	"MONDO:0007740"	"Wagner disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2464"	"VCAN"	"MONDO:0007740"	"Wagner disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-26 18:39:19"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1ea2623-463f-40f1-befb-5dfde7abc784-2021-07-26T183919.943Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1ea2623-463f-40f1-befb-5dfde7abc784"	"2024-04-21"
"GENCC_000102-HGNC_12665-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:12665"	"VCL"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12665"	"VCL"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-05-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27365fd2-1203-4e2b-8830-3277e965d8bc-2023-05-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"27365fd2-1203-4e2b-8830-3277e965d8bc"	"2024-04-21"
"GENCC_000102-HGNC_12665-MONDO_0005021-HP_0000006-GENCC_100003"	"HGNC:12665"	"VCL"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12665"	"VCL"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-11-06 18:26:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d46699a-5f8c-460d-9233-bec4e2ecf560-2020-11-06T182645.766Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2d46699a-5f8c-460d-9233-bec4e2ecf560"	"2024-04-21"
"GENCC_000102-HGNC_12666-MONDO_0000507-HP_0000006-GENCC_100001"	"HGNC:12666"	"VCP"	"MONDO:0000507"	"inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"MONDO:0000507"	"inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12666"	"VCP"	"MONDO:0000507"	"inclusion body myopathy with Paget disease of bone and frontotemporal dementia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-23 22:35:10"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ea2bc4d-3b58-4b59-a5bc-9d8a96c452cb-2021-12-23T223510.433Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ea2bc4d-3b58-4b59-a5bc-9d8a96c452cb"	"2024-04-21"
"GENCC_000102-HGNC_12687-MONDO_0008667-HP_0000006-GENCC_100001"	"HGNC:12687"	"VHL"	"MONDO:0008667"	"von Hippel-Lindau disease"	"MONDO:0008667"	"von Hippel-Lindau disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12687"	"VHL"	"MONDO:0008667"	"von Hippel-Lindau disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-14 00:41:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30c04ced-b74d-465a-8d7d-eb822109b7f1-2020-05-14T004116.004Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"30c04ced-b74d-465a-8d7d-eb822109b7f1"	"2024-04-21"
"GENCC_000102-HGNC_20347-MONDO_0013255-HP_0000007-GENCC_100001"	"HGNC:20347"	"VIPAS39"	"MONDO:0013255"	"arthrogryposis, renal dysfunction, and cholestasis 2"	"MONDO:0013255"	"arthrogryposis, renal dysfunction, and cholestasis 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20347"	"VIPAS39"	"MONDO:0013255"	"arthrogryposis, renal dysfunction, and cholestasis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b87d2443-a34d-41b1-8712-bcd346e3cf52-2020-12-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b87d2443-a34d-41b1-8712-bcd346e3cf52"	"2024-04-21"
"GENCC_000102-HGNC_23663-MONDO_0011837-HP_0000007-GENCC_100003"	"HGNC:23663"	"VKORC1"	"MONDO:0011837"	"vitamin K-dependent clotting factors, combined deficiency of, type 2"	"MONDO:0011837"	"vitamin K-dependent clotting factors, combined deficiency of, type 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23663"	"VKORC1"	"MONDO:0011837"	"vitamin K-dependent clotting factors, combined deficiency of, type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84145ffe-9835-4a3a-a2ae-6d0c6bd34007-2023-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"84145ffe-9835-4a3a-a2ae-6d0c6bd34007"	"2024-04-21"
"GENCC_000102-HGNC_12698-MONDO_0024542-HP_0000007-GENCC_100001"	"HGNC:12698"	"VLDLR"	"MONDO:0024542"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"	"MONDO:0024542"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12698"	"VLDLR"	"MONDO:0024542"	"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6dace100-8e75-4da9-a893-4a694d031a7b-2023-06-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6dace100-8e75-4da9-a893-4a694d031a7b"	"2024-04-21"
"GENCC_000102-HGNC_2183-MONDO_0008999-HP_0000007-GENCC_100001"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"MONDO:0008999"	"Cohen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2183"	"VPS13B"	"MONDO:0008999"	"Cohen syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-13 15:34:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccfc68bc-9f00-4565-b2c7-70ad9f8e2002-2018-11-13T153457.342Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ccfc68bc-9f00-4565-b2c7-70ad9f8e2002"	"2024-04-21"
"GENCC_000102-HGNC_23595-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:23595"	"VPS13D"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23595"	"VPS13D"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-14 14:32:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f179add-fcdb-4ea0-bc3c-506f825d2dac-2021-06-14T143234.435Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f179add-fcdb-4ea0-bc3c-506f825d2dac"	"2024-04-21"
"GENCC_000102-HGNC_18179-MONDO_0015012-HP_0000007-GENCC_100003"	"HGNC:18179"	"VPS33A"	"MONDO:0015012"	"mucopolysaccharidosis-plus syndrome"	"MONDO:0015012"	"mucopolysaccharidosis-plus syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18179"	"VPS33A"	"MONDO:0015012"	"mucopolysaccharidosis-plus syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-10-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70662e64-a50a-49d1-aaac-46429d840062-2023-10-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"70662e64-a50a-49d1-aaac-46429d840062"	"2024-04-21"
"GENCC_000102-HGNC_12712-MONDO_0008822-HP_0000007-GENCC_100001"	"HGNC:12712"	"VPS33B"	"MONDO:0008822"	"arthrogryposis, renal dysfunction, and cholestasis 1"	"MONDO:0008822"	"arthrogryposis, renal dysfunction, and cholestasis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12712"	"VPS33B"	"MONDO:0008822"	"arthrogryposis, renal dysfunction, and cholestasis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-24 16:05:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d38d685c-9aee-4660-9228-4119a4fd583d-2021-03-24T160534.056Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d38d685c-9aee-4660-9228-4119a4fd583d"	"2024-04-21"
"GENCC_000102-HGNC_13487-MONDO_0005180-HP_0000006-GENCC_100001"	"HGNC:13487"	"VPS35"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13487"	"VPS35"	"MONDO:0005180"	"Parkinson disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-03 13:45:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0e546d6-8a44-4e9d-83aa-f781ec4ec166-2021-11-03T134517.796Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b0e546d6-8a44-4e9d-83aa-f781ec4ec166"	"2024-04-21"
"GENCC_000102-HGNC_29122-MONDO_0015168-HP_0000007-GENCC_100004"	"HGNC:29122"	"VPS8"	"MONDO:0015168"	"arthrogryposis multiplex congenita"	"MONDO:0015168"	"arthrogryposis multiplex congenita"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29122"	"VPS8"	"MONDO:0015168"	"arthrogryposis multiplex congenita"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-11-24 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5463"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5463"	"2024-04-21"
"GENCC_000102-HGNC_12726-MONDO_0019565-HP_0000006-GENCC_100001"	"HGNC:12726"	"VWF"	"MONDO:0019565"	"hereditary von Willebrand disease"	"MONDO:0019565"	"hereditary von Willebrand disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12726"	"VWF"	"MONDO:0019565"	"hereditary von Willebrand disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4899c76e-7d5e-4b00-a47f-7e1f1b0ba664-2020-09-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4899c76e-7d5e-4b00-a47f-7e1f1b0ba664"	"2024-04-21"
"GENCC_000102-HGNC_12726-MONDO_0015629-HP_0000006-GENCC_100001"	"HGNC:12726"	"VWF"	"MONDO:0015629"	"von Willebrand disease type 2B"	"MONDO:0015629"	"von Willebrand disease type 2B"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12726"	"VWF"	"MONDO:0015629"	"von Willebrand disease type 2B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecfe8bc1-5a4b-4d41-80d1-217af5b5b77f-2020-09-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ecfe8bc1-5a4b-4d41-80d1-217af5b5b77f"	"2024-04-21"
"GENCC_000102-HGNC_17327-MONDO_0018760-HP_0000006-GENCC_100001"	"HGNC:17327"	"WAC"	"MONDO:0018760"	"DeSanto-Shinawi syndrome"	"MONDO:0018760"	"DeSanto-Shinawi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17327"	"WAC"	"MONDO:0018760"	"DeSanto-Shinawi syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a1f3c78-d7d2-4a8c-8dbf-ddda78769bd7-2022-11-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6a1f3c78-d7d2-4a8c-8dbf-ddda78769bd7"	"2024-04-21"
"GENCC_000102-HGNC_12729-MONDO_0018894-HP_0000006-GENCC_100004"	"HGNC:12729"	"WARS1"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12729"	"WARS1"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-02-10 02:04:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93643521-0988-4c4b-b458-988044cfad6f-2022-02-10T020458.490Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93643521-0988-4c4b-b458-988044cfad6f"	"2024-04-21"
"GENCC_000102-HGNC_12730-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:12730"	"WARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12730"	"WARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fae4b08-08dc-42da-86a0-2d63ad202ef0-2022-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3fae4b08-08dc-42da-86a0-2d63ad202ef0"	"2024-04-21"
"GENCC_000102-HGNC_12731-MONDO_0010294-HP_0001417-GENCC_100001"	"HGNC:12731"	"WAS"	"MONDO:0010294"	"X-linked severe congenital neutropenia"	"MONDO:0010294"	"X-linked severe congenital neutropenia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:12731"	"WAS"	"MONDO:0010294"	"X-linked severe congenital neutropenia"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-18 17:10:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49c66050-ab36-4359-8d78-b7ba5bef80d2-2021-11-18T171012.085Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"49c66050-ab36-4359-8d78-b7ba5bef80d2"	"2024-04-21"
"GENCC_000102-HGNC_12731-MONDO_0010518-HP_0001417-GENCC_100001"	"HGNC:12731"	"WAS"	"MONDO:0010518"	"Wiskott-Aldrich syndrome"	"MONDO:0010518"	"Wiskott-Aldrich syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:12731"	"WAS"	"MONDO:0010518"	"Wiskott-Aldrich syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-12 20:54:25"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a936b3ba-f1d0-4f14-bd56-14f64ad4de3a-2018-10-12T205425.459Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a936b3ba-f1d0-4f14-bd56-14f64ad4de3a"	"2024-04-21"
"GENCC_000102-HGNC_28984-MONDO_0011339-HP_0000006-GENCC_100003"	"HGNC:28984"	"WASHC5"	"MONDO:0011339"	"hereditary spastic paraplegia 8"	"MONDO:0011339"	"hereditary spastic paraplegia 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28984"	"WASHC5"	"MONDO:0011339"	"hereditary spastic paraplegia 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-21 02:50:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26ef81c5-17e8-4d87-b7ee-627f3f083955-2022-05-21T025058.214Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"26ef81c5-17e8-4d87-b7ee-627f3f083955"	"2024-04-21"
"GENCC_000102-HGNC_28984-MONDO_0009073-HP_0000007-GENCC_100004"	"HGNC:28984"	"WASHC5"	"MONDO:0009073"	"Ritscher-Schinzel syndrome 1"	"MONDO:0009073"	"Ritscher-Schinzel syndrome 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28984"	"WASHC5"	"MONDO:0009073"	"Ritscher-Schinzel syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-05-21 02:49:05"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9920b2c1-29bd-42db-be54-b9757f7c4f6b-2022-05-21T024905.204Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9920b2c1-29bd-42db-be54-b9757f7c4f6b"	"2024-04-21"
"GENCC_000102-HGNC_12738-MONDO_0019588-HP_0000007-GENCC_100004"	"HGNC:12738"	"WBP2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12738"	"WBP2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-12-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_baa7931c-1d6a-4260-9816-fbca764c5a0e-2018-12-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"baa7931c-1d6a-4260-9816-fbca764c5a0e"	"2024-04-21"
"GENCC_000102-HGNC_20751-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:20751"	"WDFY3"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20751"	"WDFY3"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9300a41-dcac-4842-855d-01804e18d599-2022-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a9300a41-dcac-4842-855d-01804e18d599"	"2024-04-21"
"GENCC_000102-HGNC_18340-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:18340"	"WDR19"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18340"	"WDR19"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_418a6e41-45ad-411f-a40d-2f7cb61ff589-2022-05-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"418a6e41-45ad-411f-a40d-2f7cb61ff589"	"2024-04-21"
"GENCC_000102-HGNC_21208-MONDO_0054636-HP_0000006-GENCC_100001"	"HGNC:21208"	"WDR26"	"MONDO:0054636"	"Skraban-Deardorff syndrome"	"MONDO:0054636"	"Skraban-Deardorff syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21208"	"WDR26"	"MONDO:0054636"	"Skraban-Deardorff syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-19 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb1cc149-1bbe-48be-9518-03d9f3e83148-2023-07-19T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb1cc149-1bbe-48be-9518-03d9f3e83148"	"2024-04-21"
"GENCC_000102-HGNC_29250-MONDO_0013569-HP_0000007-GENCC_100001"	"HGNC:29250"	"WDR35"	"MONDO:0013569"	"short-rib thoracic dysplasia 7 with or without polydactyly"	"MONDO:0013569"	"short-rib thoracic dysplasia 7 with or without polydactyly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29250"	"WDR35"	"MONDO:0013569"	"short-rib thoracic dysplasia 7 with or without polydactyly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-08 01:22:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e3f8578-6df2-4503-9e38-c110a9f00924-2022-04-08T012255.670Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e3f8578-6df2-4503-9e38-c110a9f00924"	"2024-04-21"
"GENCC_000102-HGNC_29250-MONDO_0013323-HP_0000007-GENCC_100001"	"HGNC:29250"	"WDR35"	"MONDO:0013323"	"cranioectodermal dysplasia 2"	"MONDO:0013323"	"cranioectodermal dysplasia 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29250"	"WDR35"	"MONDO:0013323"	"cranioectodermal dysplasia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-29 14:48:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7e56d33-315b-40a0-9ec5-0a99e12cf369-2022-05-29T144812.294Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e7e56d33-315b-40a0-9ec5-0a99e12cf369"	"2024-04-21"
"GENCC_000102-HGNC_30696-MONDO_0012357-HP_0000006-GENCC_100005"	"HGNC:30696"	"WDR36"	"MONDO:0012357"	"glaucoma 1, open angle, G"	"MONDO:0012357"	"glaucoma 1, open angle, G"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30696"	"WDR36"	"MONDO:0012357"	"obsolete glaucoma 1, open angle, G"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-08-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_173858d9-f695-470f-b8b0-22940c60c074-2022-08-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"173858d9-f695-470f-b8b0-22940c60c074"	"2024-04-21"
"GENCC_000102-HGNC_28912-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:28912"	"WDR45"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:28912"	"WDR45"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85a54036-4d36-414d-8d26-944b9763a039-2019-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"85a54036-4d36-414d-8d26-944b9763a039"	"2024-04-21"
"GENCC_000102-HGNC_24502-MONDO_0011435-HP_0000007-GENCC_100001"	"HGNC:24502"	"WDR62"	"MONDO:0011435"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"MONDO:0011435"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24502"	"WDR62"	"MONDO:0011435"	"microcephaly 2, primary, autosomal recessive, with or without cortical malformations"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdbcb9de-2ded-46a0-a6d0-16b34ea22008-2020-05-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bdbcb9de-2ded-46a0-a6d0-16b34ea22008"	"2024-04-21"
"GENCC_000102-HGNC_26790-MONDO_0019507-HP_0000007-GENCC_100001"	"HGNC:26790"	"WDR72"	"MONDO:0019507"	"amelogenesis imperfecta"	"MONDO:0019507"	"amelogenesis imperfecta"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26790"	"WDR72"	"MONDO:0019507"	"amelogenesis imperfecta"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-16 01:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af7fe285-29ab-4f6c-bba1-a582d03972af-2021-12-16T013000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"af7fe285-29ab-4f6c-bba1-a582d03972af"	"2024-04-21"
"GENCC_000102-HGNC_12762-MONDO_0013673-HP_0000006-GENCC_100001"	"HGNC:12762"	"WFS1"	"MONDO:0013673"	"Wolfram-like syndrome"	"MONDO:0013673"	"Wolfram-like syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12762"	"WFS1"	"MONDO:0013673"	"Wolfram-like syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-17 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17637c9d-03fb-496a-a00c-ae2431f441e8-2018-04-17T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"17637c9d-03fb-496a-a00c-ae2431f441e8"	"2024-04-21"
"GENCC_000102-HGNC_12762-MONDO_0018105-HP_0000007-GENCC_100001"	"HGNC:12762"	"WFS1"	"MONDO:0018105"	"Wolfram syndrome"	"MONDO:0018105"	"Wolfram syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12762"	"WFS1"	"MONDO:0018105"	"Wolfram syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e81eeda-4dd0-431c-ad52-90304fb761c8-2018-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1e81eeda-4dd0-431c-ad52-90304fb761c8"	"2024-04-21"
"GENCC_000102-HGNC_16361-MONDO_0012662-HP_0000007-GENCC_100001"	"HGNC:16361"	"WHRN"	"MONDO:0012662"	"Usher syndrome type 2D"	"MONDO:0012662"	"Usher syndrome type 2D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16361"	"WHRN"	"MONDO:0012662"	"Usher syndrome type 2D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-05-10 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8151"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8151"	"2024-04-21"
"GENCC_000102-HGNC_16361-MONDO_0019497-HP_0000007-GENCC_100003"	"HGNC:16361"	"WHRN"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16361"	"WHRN"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2018-12-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3188ec93-954a-4daa-b99d-7c5fccad8e1a-2018-12-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3188ec93-954a-4daa-b99d-7c5fccad8e1a"	"2024-04-21"
"GENCC_000102-HGNC_12736-MONDO_0013779-HP_0000007-GENCC_100001"	"HGNC:12736"	"WIPF1"	"MONDO:0013779"	"Wiskott-Aldrich syndrome 2"	"MONDO:0013779"	"Wiskott-Aldrich syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12736"	"WIPF1"	"MONDO:0013779"	"Wiskott-Aldrich syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93bc67d5-b9f8-4eab-8f8a-cdc10595be30-2023-04-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93bc67d5-b9f8-4eab-8f8a-cdc10595be30"	"2024-04-21"
"GENCC_000102-HGNC_14540-MONDO_0024309-HP_0000007-GENCC_100001"	"HGNC:14540"	"WNK1"	"MONDO:0024309"	"neuropathy, hereditary sensory and autonomic, type 2A"	"MONDO:0024309"	"neuropathy, hereditary sensory and autonomic, type 2A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14540"	"WNK1"	"MONDO:0024309"	"neuropathy, hereditary sensory and autonomic, type 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28b83a4d-4a0f-4617-bc11-1effb9efe719-2023-05-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"28b83a4d-4a0f-4617-bc11-1effb9efe719"	"2024-04-21"
"GENCC_000102-HGNC_13829-MONDO_0100358-HP_0032113-GENCC_100001"	"HGNC:13829"	"WNT10A"	"MONDO:0100358"	"ectodermal dysplasia WNT10A related"	"MONDO:0100358"	"ectodermal dysplasia WNT10A related"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:13829"	"WNT10A"	"MONDO:0100358"	"ectodermal dysplasia WNT10A related"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-21 02:55:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2a537f1-f04c-4e08-9cca-80122e36f51a-2022-05-21T025524.674Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e2a537f1-f04c-4e08-9cca-80122e36f51a"	"2024-04-21"
"GENCC_000102-HGNC_12784-MONDO_0008389-HP_0000006-GENCC_100003"	"HGNC:12784"	"WNT5A"	"MONDO:0008389"	"autosomal dominant Robinow syndrome"	"MONDO:0008389"	"autosomal dominant Robinow syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12784"	"WNT5A"	"MONDO:0008389"	"autosomal dominant Robinow syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-02-03 14:20:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fb2940f-f0e0-442c-beb8-72fc959d5a43-2021-02-03T142016.299Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0fb2940f-f0e0-442c-beb8-72fc959d5a43"	"2024-04-21"
"GENCC_000102-HGNC_25522-MONDO_0015780-HP_0000007-GENCC_100003"	"HGNC:25522"	"WRAP53"	"MONDO:0015780"	"dyskeratosis congenita"	"MONDO:0015780"	"dyskeratosis congenita"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25522"	"WRAP53"	"MONDO:0015780"	"dyskeratosis congenita"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2017-01-25 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3207"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3207"	"2024-04-21"
"GENCC_000102-HGNC_12791-MONDO_0010196-HP_0000007-GENCC_100001"	"HGNC:12791"	"WRN"	"MONDO:0010196"	"Werner syndrome"	"MONDO:0010196"	"Werner syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12791"	"WRN"	"MONDO:0010196"	"Werner syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9c04f29-bc94-40c5-95d7-d25d21cd387f-2018-10-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d9c04f29-bc94-40c5-95d7-d25d21cd387f"	"2024-04-21"
"GENCC_000102-HGNC_12796-MONDO_0008679-HP_0000006-GENCC_100001"	"HGNC:12796"	"WT1"	"MONDO:0008679"	"Wilms tumor 1"	"MONDO:0008679"	"Wilms tumor 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12796"	"WT1"	"MONDO:0008679"	"Wilms tumor 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 20:55:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65010002-ff97-4dc0-a89f-6c77abf0982a-2020-07-30T205501.047Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"65010002-ff97-4dc0-a89f-6c77abf0982a"	"2024-04-21"
"GENCC_000102-HGNC_12796-MONDO_0008682-HP_0000006-GENCC_100001"	"HGNC:12796"	"WT1"	"MONDO:0008682"	"Denys-Drash syndrome"	"MONDO:0008682"	"Denys-Drash syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12796"	"WT1"	"MONDO:0008682"	"Denys-Drash syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 21:05:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cccc7a42-a49c-4a8d-8b9e-f16b81e9ee07-2021-07-27T210557.993Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cccc7a42-a49c-4a8d-8b9e-f16b81e9ee07"	"2024-04-21"
"GENCC_000102-HGNC_12799-MONDO_0100062-HP_0000007-GENCC_100001"	"HGNC:12799"	"WWOX"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12799"	"WWOX"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-03 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9da233ef-bf3b-43c5-b82c-c7a6ea4dd5a6-2021-08-03T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9da233ef-bf3b-43c5-b82c-c7a6ea4dd5a6"	"2024-04-21"
"GENCC_000102-HGNC_12814-MONDO_0010210-HP_0000007-GENCC_100001"	"HGNC:12814"	"XPA"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12814"	"XPA"	"MONDO:0010210"	"xeroderma pigmentosum group A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-02 21:36:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd298eb-1e1a-4283-851e-2dd24059ba22-2018-11-02T213651.734Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5cd298eb-1e1a-4283-851e-2dd24059ba22"	"2024-04-21"
"GENCC_000102-HGNC_12816-MONDO_0010211-HP_0000007-GENCC_100001"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12816"	"XPC"	"MONDO:0010211"	"xeroderma pigmentosum group C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-02 21:42:21"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8352d38c-7fb3-4a82-8f8b-7cd08fded1f4-2018-11-02T214221.860Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8352d38c-7fb3-4a82-8f8b-7cd08fded1f4"	"2024-04-21"
"GENCC_000102-HGNC_28052-MONDO_0013163-HP_0000007-GENCC_100003"	"HGNC:28052"	"XPNPEP3"	"MONDO:0013163"	"nephronophthisis-like nephropathy 1"	"MONDO:0013163"	"nephronophthisis-like nephropathy 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28052"	"XPNPEP3"	"MONDO:0013163"	"nephronophthisis-like nephropathy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-23 15:04:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1fd65c6-6010-4ee7-bb1c-e347c539127c-2021-06-23T150426.493Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c1fd65c6-6010-4ee7-bb1c-e347c539127c"	"2024-04-21"
"GENCC_000102-HGNC_12829-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:12829"	"XRCC2"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12829"	"XRCC2"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-26 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8707"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8707"	"2024-04-21"
"GENCC_000102-HGNC_12829-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:12829"	"XRCC2"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12829"	"XRCC2"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-03-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7f253e9-bb78-44c5-bab1-6e8017eeb69c-2023-03-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f7f253e9-bb78-44c5-bab1-6e8017eeb69c"	"2024-04-21"
"GENCC_000102-HGNC_12831-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:12831"	"XRCC4"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12831"	"XRCC4"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-05-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9865"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9865"	"2024-04-21"
"GENCC_000102-HGNC_12840-MONDO_0015626-HP_0000006-GENCC_100001"	"HGNC:12840"	"YARS1"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12840"	"YARS1"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c326f90-be08-4bb3-9593-b2df48f29ca1-2020-04-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9c326f90-be08-4bb3-9593-b2df48f29ca1"	"2024-04-21"
"GENCC_000102-HGNC_12858-MONDO_0010023-HP_0000007-GENCC_100001"	"HGNC:12858"	"ZAP70"	"MONDO:0010023"	"combined immunodeficiency due to ZAP70 deficiency"	"MONDO:0010023"	"combined immunodeficiency due to ZAP70 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12858"	"ZAP70"	"MONDO:0010023"	"combined immunodeficiency due to ZAP70 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-08 04:48:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_486c47d2-e5a9-4527-a2cc-aaa43cd5c42f-2022-02-08T044813.125Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"486c47d2-e5a9-4527-a2cc-aaa43cd5c42f"	"2024-04-21"
"GENCC_000102-HGNC_13030-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:13030"	"ZBTB18"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13030"	"ZBTB18"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-14 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8ea518c-64da-4d4f-8551-66a005307e94-2023-12-14T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d8ea518c-64da-4d4f-8551-66a005307e94"	"2024-04-21"
"GENCC_000102-HGNC_20509-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:20509"	"ZC3H14"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20509"	"ZC3H14"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bd19228-7668-40f2-8fa3-8bdafe23f1d7-2022-11-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9bd19228-7668-40f2-8fa3-8bdafe23f1d7"	"2024-04-21"
"GENCC_000102-HGNC_24931-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:24931"	"ZC4H2"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:24931"	"ZC4H2"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-21 00:20:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64ba9cd6-bdfd-4b85-9bdd-1b317715230d-2020-10-21T002026.894Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"64ba9cd6-bdfd-4b85-9bdd-1b317715230d"	"2024-04-21"
"GENCC_000102-HGNC_20342-MONDO_0100148-HP_0001417-GENCC_100005"	"HGNC:20342"	"ZDHHC15"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:20342"	"ZDHHC15"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-07-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2519945-2acd-4484-9811-487ff5189da9-2021-07-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a2519945-2acd-4484-9811-487ff5189da9"	"2024-04-21"
"GENCC_000102-HGNC_18475-MONDO_0010427-HP_0001417-GENCC_100001"	"HGNC:18475"	"ZDHHC9"	"MONDO:0010427"	"syndromic X-linked intellectual disability Raymond type"	"MONDO:0010427"	"syndromic X-linked intellectual disability Raymond type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:18475"	"ZDHHC9"	"MONDO:0010427"	"syndromic X-linked intellectual disability Raymond type"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2156b925-1ee6-4edb-a514-3650aa5b780e-2020-05-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2156b925-1ee6-4edb-a514-3650aa5b780e"	"2024-04-21"
"GENCC_000102-HGNC_14881-MONDO_0009341-HP_0000006-GENCC_100001"	"HGNC:14881"	"ZEB2"	"MONDO:0009341"	"Mowat-Wilson syndrome"	"MONDO:0009341"	"Mowat-Wilson syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14881"	"ZEB2"	"MONDO:0009341"	"Mowat-Wilson syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb06ff0d-1cc6-494c-9ce5-f7cb26f34620-2018-05-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cb06ff0d-1cc6-494c-9ce5-f7cb26f34620"	"2024-04-21"
"GENCC_000102-HGNC_26559-MONDO_0012448-HP_0000006-GENCC_100005"	"HGNC:26559"	"ZFYVE27"	"MONDO:0012448"	"hereditary spastic paraplegia 33"	"MONDO:0012448"	"hereditary spastic paraplegia 33"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26559"	"ZFYVE27"	"MONDO:0012448"	"hereditary spastic paraplegia 33"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-02-02 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1339e37-ae1f-4ffe-8f05-fb00729de5ed-2023-02-02T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1339e37-ae1f-4ffe-8f05-fb00729de5ed"	"2024-04-21"
"GENCC_000102-HGNC_12872-MONDO_0014705-HP_0000006-GENCC_100001"	"HGNC:12872"	"ZIC1"	"MONDO:0014705"	"craniosynostosis 6"	"MONDO:0014705"	"craniosynostosis 6"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12872"	"ZIC1"	"MONDO:0014705"	"craniosynostosis 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e70d90a2-6365-49ac-a21f-599ff5906d88-2024-01-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e70d90a2-6365-49ac-a21f-599ff5906d88"	"2024-04-21"
"GENCC_000102-HGNC_16493-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:16493"	"ZMIZ1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16493"	"ZMIZ1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-05 02:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6047476-9d50-4b42-a00a-e983c7481f19-2022-07-05T020000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a6047476-9d50-4b42-a00a-e983c7481f19"	"2024-04-21"
"GENCC_000102-HGNC_12877-MONDO_0012074-HP_0000007-GENCC_100001"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0012074"	"mandibuloacral dysplasia with type B lipodystrophy"	"MONDO:0012074"	"mandibuloacral dysplasia with type B lipodystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0012074"	"mandibuloacral dysplasia with type B lipodystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3aecf4af-4d2d-4d50-a681-9f4973cc985a-2022-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3aecf4af-4d2d-4d50-a681-9f4973cc985a"	"2024-04-21"
"GENCC_000102-HGNC_12877-MONDO_0010143-HP_0000007-GENCC_100001"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0010143"	"lethal restrictive dermopathy"	"MONDO:0010143"	"lethal restrictive dermopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12877"	"ZMPSTE24"	"MONDO:0010143"	"obsolete lethal restrictive dermopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a85a92bd-afed-4e4e-99a5-e9902993c62e-2022-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a85a92bd-afed-4e4e-99a5-e9902993c62e"	"2024-04-21"
"GENCC_000102-HGNC_19412-MONDO_0014192-HP_0000007-GENCC_100001"	"HGNC:19412"	"ZMYND10"	"MONDO:0014192"	"primary ciliary dyskinesia 22"	"MONDO:0014192"	"primary ciliary dyskinesia 22"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19412"	"ZMYND10"	"MONDO:0014192"	"primary ciliary dyskinesia 22"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9549c727-fece-494c-9892-83c0ac05f3b4-2023-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9549c727-fece-494c-9892-83c0ac05f3b4"	"2024-04-21"
"GENCC_000102-HGNC_16966-MONDO_0800439-HP_0000006-GENCC_100001"	"HGNC:16966"	"ZMYND11"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16966"	"ZMYND11"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-28 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7250b506-97ab-49c9-9d7c-71c88003854e-2024-03-28T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7250b506-97ab-49c9-9d7c-71c88003854e"	"2024-04-21"
"GENCC_000102-HGNC_12928-MONDO_0016826-HP_0000007-GENCC_100003"	"HGNC:12928"	"ZNF143"	"MONDO:0016826"	"methylmalonic aciduria and homocystinuria"	"MONDO:0016826"	"methylmalonic aciduria and homocystinuria"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12928"	"ZNF143"	"MONDO:0016826"	"methylmalonic aciduria and homocystinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-03-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2961595-2f51-45d6-af4d-988ec5a7628a-2024-03-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d2961595-2f51-45d6-af4d-988ec5a7628a"	"2024-04-21"
"GENCC_000102-HGNC_18410-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:18410"	"ZNF292"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18410"	"ZNF292"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dba438b7-23f9-4c15-a8aa-f70431a193e2-2020-05-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dba438b7-23f9-4c15-a8aa-f70431a193e2"	"2024-04-21"
"GENCC_000102-HGNC_13107-MONDO_0019181-HP_0001417-GENCC_100005"	"HGNC:13107"	"ZNF41"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:13107"	"ZNF41"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-03-16 17:12:35"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d705685-78a3-4925-8a1b-e00d39d63f87-2021-03-16T171235.415Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6d705685-78a3-4925-8a1b-e00d39d63f87"	"2024-04-21"
"GENCC_000102-HGNC_16762-MONDO_0019005-HP_0000007-GENCC_100004"	"HGNC:16762"	"ZNF423"	"MONDO:0019005"	"nephronophthisis"	"MONDO:0019005"	"nephronophthisis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16762"	"ZNF423"	"MONDO:0019005"	"nephronophthisis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-03-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c61623dd-07b1-41c5-b445-3f9f8575cc06-2022-03-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c61623dd-07b1-41c5-b445-3f9f8575cc06"	"2024-04-21"
"GENCC_000102-HGNC_21684-MONDO_0032836-HP_0000006-GENCC_100001"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"MONDO:0032836"	"Weiss-Kruszka syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21684"	"ZNF462"	"MONDO:0032836"	"weiss-kruszka syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-25 13:10:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9fb3ee56-12be-4418-bd85-56e7958ac601-2020-08-25T131051.689Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9fb3ee56-12be-4418-bd85-56e7958ac601"	"2024-04-21"
"GENCC_000102-HGNC_17625-MONDO_0100284-HP_0001417-GENCC_100005"	"HGNC:17625"	"ZNF674"	"MONDO:0100284"	"X-linked intellectual disability"	"MONDO:0100284"	"X-linked intellectual disability"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:17625"	"ZNF674"	"MONDO:0100284"	"X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-05-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5105ab37-4f59-44dc-a8b1-f28e6ed3b704-2021-05-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5105ab37-4f59-44dc-a8b1-f28e6ed3b704"	"2024-04-21"
"GENCC_000102-HGNC_13128-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:13128"	"ZNF711"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:13128"	"ZNF711"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-22 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80a6e42d-f8ce-4bce-8bb4-579b78c94d21-2022-09-22T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"80a6e42d-f8ce-4bce-8bb4-579b78c94d21"	"2024-04-21"
"GENCC_000102-HGNC_13156-MONDO_0100284-HP_0001417-GENCC_100005"	"HGNC:13156"	"ZNF81"	"MONDO:0100284"	"X-linked intellectual disability"	"MONDO:0100284"	"X-linked intellectual disability"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:13156"	"ZNF81"	"MONDO:0100284"	"X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3ada757-6500-46a1-a89e-42668bbdb934-2021-01-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a3ada757-6500-46a1-a89e-42668bbdb934"	"2024-04-21"
"GENCC_000102-HGNC_12829-MONDO_0014987-HP_0000007-GENCC_100004"	"HGNC:12829"	"XRCC2"	"MONDO:0014987"	"Fanconi anemia complementation group U"	"MONDO:0014987"	"Fanconi anemia complementation group U"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12829"	"XRCC2"	"MONDO:0014987"	"Fanconi anemia complementation group U"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-10-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c33ed99-86f1-4654-bc88-e8f90191885d-2023-10-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9c33ed99-86f1-4654-bc88-e8f90191885d"	"2024-04-21"
"GENCC_000102-HGNC_15832-MONDO_0018894-HP_0000006-GENCC_100001"	"HGNC:15832"	"BSCL2"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15832"	"BSCL2"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02472719-c26d-40ff-8ad4-897ef7a6800a-2022-09-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"02472719-c26d-40ff-8ad4-897ef7a6800a"	"2024-04-21"
"GENCC_000102-HGNC_16512-MONDO_0011242-HP_0000007-GENCC_100001"	"HGNC:16512"	"BSND"	"MONDO:0011242"	"Bartter disease type 4A"	"MONDO:0011242"	"Bartter disease type 4A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16512"	"BSND"	"MONDO:0011242"	"Bartter disease type 4A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b69acb1-93bc-4bc0-8a33-77bf64179c32-2018-07-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b69acb1-93bc-4bc0-8a33-77bf64179c32"	"2024-04-21"
"GENCC_000102-HGNC_1122-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:1122"	"BTD"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1122"	"BTD"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-14 14:03:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74599afe-02f9-4225-9e50-63306f04a552-2021-06-14T140327.018Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"74599afe-02f9-4225-9e50-63306f04a552"	"2024-04-21"
"GENCC_000102-HGNC_1122-MONDO_0009665-HP_0000007-GENCC_100001"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"biotinidase deficiency"	"MONDO:0009665"	"biotinidase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1122"	"BTD"	"MONDO:0009665"	"biotinidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-10 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_847f7f2b-575f-4a90-bf02-179d464e4841-2020-02-10T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"847f7f2b-575f-4a90-bf02-179d464e4841"	"2024-04-21"
"GENCC_000102-HGNC_1133-MONDO_0010615-HP_0001417-GENCC_100005"	"HGNC:1133"	"BTK"	"MONDO:0010615"	"isolated growth hormone deficiency type III"	"MONDO:0010615"	"isolated growth hormone deficiency type III"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:1133"	"BTK"	"MONDO:0010615"	"isolated growth hormone deficiency type III"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6341781b-9ba9-41b1-889a-8d65a9b3ebb7-2020-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6341781b-9ba9-41b1-889a-8d65a9b3ebb7"	"2024-04-21"
"GENCC_000102-HGNC_1133-MONDO_0010421-HP_0001417-GENCC_100001"	"HGNC:1133"	"BTK"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:1133"	"BTK"	"MONDO:0010421"	"Bruton-type agammaglobulinemia"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dc4d594-2103-46ad-a786-f4bda9b95995-2020-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8dc4d594-2103-46ad-a786-f4bda9b95995"	"2024-04-21"
"GENCC_000102-HGNC_1148-MONDO_0005575-HP_0000006-GENCC_100004"	"HGNC:1148"	"BUB1"	"MONDO:0005575"	"colorectal cancer"	"MONDO:0005575"	"colorectal cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1148"	"BUB1"	"MONDO:0005575"	"colorectal cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_018019f0-2a13-42e7-9a03-b7eac3a4c483-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"018019f0-2a13-42e7-9a03-b7eac3a4c483"	"2024-04-21"
"GENCC_000102-HGNC_1149-MONDO_0009759-HP_0000007-GENCC_100001"	"HGNC:1149"	"BUB1B"	"MONDO:0009759"	"mosaic variegated aneuploidy syndrome 1"	"MONDO:0009759"	"mosaic variegated aneuploidy syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1149"	"BUB1B"	"MONDO:0009759"	"mosaic variegated aneuploidy syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-22 14:53:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59147f27-d5a3-4760-ba8d-0429bae3c906-2019-11-22T145326.352Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"59147f27-d5a3-4760-ba8d-0429bae3c906"	"2024-04-21"
"GENCC_000102-HGNC_1152-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:1152"	"POPDC1"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1152"	"BVES"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31a0db34-cad3-4746-a40f-2912318dfbd2-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"31a0db34-cad3-4746-a40f-2912318dfbd2"	"2024-04-21"
"GENCC_000102-HGNC_25443-MONDO_0013674-HP_0000007-GENCC_100001"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20b64ab8-0b48-40d4-8ef5-b3d251e4bec0-2023-02-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20b64ab8-0b48-40d4-8ef5-b3d251e4bec0"	"2024-04-21"
"GENCC_000102-HGNC_25443-MONDO_0013674-HP_0000006-GENCC_100003"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:25443"	"C19orf12"	"MONDO:0013674"	"neurodegeneration with brain iron accumulation 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-02-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c78e8a8a-49db-40f5-96a3-d126a3834976-2023-02-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c78e8a8a-49db-40f5-96a3-d126a3834976"	"2024-04-21"
"GENCC_000102-HGNC_1242-MONDO_0013343-HP_0000007-GENCC_100001"	"HGNC:1242"	"C1QB"	"MONDO:0013343"	"C1Q deficiency"	"MONDO:0013343"	"C1Q deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1242"	"C1QB"	"MONDO:0013343"	"C1Q deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-01-09 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3216"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3216"	"2024-04-21"
"GENCC_000102-HGNC_1243-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:1243"	"C1QBP"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1243"	"C1QBP"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e98e3a8-77f2-4011-96cb-6bcc54f36a8b-2022-08-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8e98e3a8-77f2-4011-96cb-6bcc54f36a8b"	"2024-04-21"
"GENCC_000102-HGNC_24564-MONDO_0014413-HP_0000007-GENCC_100001"	"HGNC:24564"	"C2CD3"	"MONDO:0014413"	"orofaciodigital syndrome type 14"	"MONDO:0014413"	"orofaciodigital syndrome type 14"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24564"	"C2CD3"	"MONDO:0014413"	"orofaciodigital syndrome type 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca993ab8-029f-46f6-9fc5-ffc1f54cb120-2023-05-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca993ab8-029f-46f6-9fc5-ffc1f54cb120"	"2024-04-21"
"GENCC_000102-HGNC_1318-MONDO_0013892-HP_0000006-GENCC_100003"	"HGNC:1318"	"C3"	"MONDO:0013892"	"C3 glomerulonephritis"	"MONDO:0013892"	"C3 glomerulonephritis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1318"	"C3"	"MONDO:0013892"	"C3 glomerulonephritis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-03-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e000b88-9487-46a6-830a-7a613152853d-2024-03-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2e000b88-9487-46a6-830a-7a613152853d"	"2024-04-21"
"GENCC_000102-HGNC_1318-MONDO_0013043-HP_0000006-GENCC_100001"	"HGNC:1318"	"C3"	"MONDO:0013043"	"atypical hemolytic-uremic syndrome with C3 anomaly"	"MONDO:0013043"	"atypical hemolytic-uremic syndrome with C3 anomaly"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1318"	"C3"	"MONDO:0013043"	"atypical hemolytic-uremic syndrome with C3 anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78a4d83e-8fb0-4b47-9dfc-5dfe618e1aa3-2023-09-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"78a4d83e-8fb0-4b47-9dfc-5dfe618e1aa3"	"2024-04-21"
"GENCC_000102-HGNC_28337-MONDO_0007105-HP_0000006-GENCC_100001"	"HGNC:28337"	"C9orf72"	"MONDO:0007105"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"MONDO:0007105"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28337"	"C9orf72"	"MONDO:0007105"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-21 03:02:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afd5a267-72c8-4a04-8404-4c819efe61c5-2021-09-21T030209.665Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afd5a267-72c8-4a04-8404-4c819efe61c5"	"2024-04-21"
"GENCC_000102-HGNC_1377-MONDO_0014332-HP_0000007-GENCC_100001"	"HGNC:1377"	"CA5A"	"MONDO:0014332"	"hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	"MONDO:0014332"	"hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1377"	"CA5A"	"MONDO:0014332"	"hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7c5731a-866e-4a96-abb0-f0747f89280b-2018-09-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f7c5731a-866e-4a96-abb0-f0747f89280b"	"2024-04-21"
"GENCC_000102-HGNC_1385-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:1385"	"CABP2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1385"	"CABP2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20de88d2-6681-4522-9e11-26cdf66a2c15-2020-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20de88d2-6681-4522-9e11-26cdf66a2c15"	"2024-04-21"
"GENCC_000102-HGNC_1389-MONDO_0100516-HP_0000007-GENCC_100003"	"HGNC:1389"	"CACNA1B"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1389"	"CACNA1B"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df8ed53b-a959-4e5b-a323-7a80b152a98b-2023-08-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"df8ed53b-a959-4e5b-a323-7a80b152a98b"	"2024-04-21"
"GENCC_000102-HGNC_1390-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:1390"	"CACNA1C"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1390"	"CACNA1C"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10146"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10146"	"2024-04-21"
"GENCC_000102-HGNC_1390-MONDO_0000453-HP_0000006-GENCC_100005"	"HGNC:1390"	"CACNA1C"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1390"	"CACNA1C"	"MONDO:0000453"	"short QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51dae85e-8745-48c1-8fb9-cabc2501d3fb-2020-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"51dae85e-8745-48c1-8fb9-cabc2501d3fb"	"2024-04-21"
"GENCC_000102-HGNC_1390-MONDO_0002442-HP_0000006-GENCC_100003"	"HGNC:1390"	"CACNA1C"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1390"	"CACNA1C"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-04-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c496551d-c7a7-4e49-ad41-8cfd49840dc1-2020-04-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c496551d-c7a7-4e49-ad41-8cfd49840dc1"	"2024-04-21"
"GENCC_000102-HGNC_1391-MONDO_0013960-HP_0000007-GENCC_100003"	"HGNC:1391"	"CACNA1D"	"MONDO:0013960"	"sinoatrial node dysfunction and deafness"	"MONDO:0013960"	"sinoatrial node dysfunction and deafness"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1391"	"CACNA1D"	"MONDO:0013960"	"sinoatrial node dysfunction and deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2018-05-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8249f2c1-ff59-4ea2-8e7e-11256c73433e-2018-05-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8249f2c1-ff59-4ea2-8e7e-11256c73433e"	"2024-04-21"
"GENCC_000102-HGNC_1392-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:1392"	"CACNA1E"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1392"	"CACNA1E"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-06 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0cf0db0a-4af2-4e60-ab64-ce0115241caf-2023-12-06T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0cf0db0a-4af2-4e60-ab64-ce0115241caf"	"2024-04-21"
"GENCC_000102-HGNC_1393-MONDO_0019118-HP_0001417-GENCC_100001"	"HGNC:1393"	"CACNA1F"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:1393"	"CACNA1F"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7800cd0-11d8-4e50-85f0-04574c8798f4-2023-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c7800cd0-11d8-4e50-85f0-04574c8798f4"	"2024-04-21"
"GENCC_000102-HGNC_1397-MONDO_0011163-HP_0000006-GENCC_100003"	"HGNC:1397"	"CACNA1S"	"MONDO:0011163"	"malignant hyperthermia, susceptibility to, 5"	"MONDO:0011163"	"malignant hyperthermia, susceptibility to, 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1397"	"CACNA1S"	"MONDO:0011163"	"malignant hyperthermia, susceptibility to, 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22fff996-ca2e-473d-8a57-d2b8ff022a92-2023-04-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"22fff996-ca2e-473d-8a57-d2b8ff022a92"	"2024-04-21"
"GENCC_000102-HGNC_1399-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:1399"	"CACNA2D1"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1399"	"CACNA2D1"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10147"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10147"	"2024-04-21"
"GENCC_000102-HGNC_1399-MONDO_0000453-HP_0000006-GENCC_100005"	"HGNC:1399"	"CACNA2D1"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1399"	"CACNA2D1"	"MONDO:0000453"	"short QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-09-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_896733cc-c686-4279-affb-e1860fd10ca2-2020-09-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"896733cc-c686-4279-affb-e1860fd10ca2"	"2024-04-21"
"GENCC_000102-HGNC_1400-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:1400"	"CACNA2D2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1400"	"CACNA2D2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-11-21 08:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aadbfa17-bd3f-4521-bb7f-c5ada786d05c-2023-11-21T080000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aadbfa17-bd3f-4521-bb7f-c5ada786d05c"	"2024-04-21"
"GENCC_000102-HGNC_20202-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:20202"	"CACNA2D4"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20202"	"CACNA2D4"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f413ef18-b8cf-44c3-abde-b7533e1dd54f-2023-03-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f413ef18-b8cf-44c3-abde-b7533e1dd54f"	"2024-04-21"
"GENCC_000102-HGNC_1402-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:1402"	"CACNB2"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1402"	"CACNB2"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10148"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10148"	"2024-04-21"
"GENCC_000102-HGNC_1402-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:1402"	"CACNB2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1402"	"CACNB2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-04-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7a08ba4-6024-449c-b824-c762a85277a1-2022-04-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e7a08ba4-6024-449c-b824-c762a85277a1"	"2024-04-21"
"GENCC_000102-HGNC_1402-MONDO_0000453-HP_0000006-GENCC_100005"	"HGNC:1402"	"CACNB2"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1402"	"CACNB2"	"MONDO:0000453"	"short QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eaa3adbb-5e58-4e9a-a142-76c93c65b917-2020-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eaa3adbb-5e58-4e9a-a142-76c93c65b917"	"2024-04-21"
"GENCC_000102-HGNC_1404-MONDO_0005027-HP_0000006-GENCC_100006"	"HGNC:1404"	"CACNB4"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1404"	"CACNB4"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2022-07-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2fad131-8e91-4874-9394-8b86d6d62abb-2022-07-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d2fad131-8e91-4874-9394-8b86d6d62abb"	"2024-04-21"
"GENCC_000102-HGNC_1406-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:1406"	"CACNG2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1406"	"CACNG2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-07-29 21:03:33"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a61ad78f-0f37-4221-82f4-710275033666-2021-07-29T210333.496Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a61ad78f-0f37-4221-82f4-710275033666"	"2024-04-21"
"GENCC_000102-HGNC_1424-MONDO_0014647-HP_0000007-GENCC_100001"	"HGNC:1424"	"CAD"	"MONDO:0014647"	"developmental and epileptic encephalopathy, 50"	"MONDO:0014647"	"developmental and epileptic encephalopathy, 50"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1424"	"CAD"	"MONDO:0014647"	"developmental and epileptic encephalopathy, 50"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-04-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4a828c0-e00b-4756-aec7-b83e529ec8e4-2024-04-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e4a828c0-e00b-4756-aec7-b83e529ec8e4"	"2024-04-21"
"GENCC_000102-HGNC_1442-MONDO_0017990-HP_0000006-GENCC_100003"	"HGNC:1442"	"CALM1"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1442"	"CALM1"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ca1d8df-10fa-48ef-aea4-fb4dc6564dd0-2021-06-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1ca1d8df-10fa-48ef-aea4-fb4dc6564dd0"	"2024-04-21"
"GENCC_000102-HGNC_1442-MONDO_0002442-HP_0000006-GENCC_100001"	"HGNC:1442"	"CALM1"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1442"	"CALM1"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a150cd9-e16b-4992-8cc7-5ccec44b4d6b-2018-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4a150cd9-e16b-4992-8cc7-5ccec44b4d6b"	"2024-04-21"
"GENCC_000102-HGNC_1445-MONDO_0017990-HP_0000006-GENCC_100003"	"HGNC:1445"	"CALM2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1445"	"CALM2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42d280da-accc-46f2-8832-47d5a3eeeba7-2021-06-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"42d280da-accc-46f2-8832-47d5a3eeeba7"	"2024-04-21"
"GENCC_000102-HGNC_1445-MONDO_0002442-HP_0000006-GENCC_100001"	"HGNC:1445"	"CALM2"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1445"	"CALM2"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86e4b783-3b60-4a1d-ab34-e61d27751ca6-2018-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"86e4b783-3b60-4a1d-ab34-e61d27751ca6"	"2024-04-21"
"GENCC_000102-HGNC_1449-MONDO_0017990-HP_0000006-GENCC_100003"	"HGNC:1449"	"CALM3"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1449"	"CALM3"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b7fc965-a109-4448-94a0-00a9b078b484-2021-06-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1b7fc965-a109-4448-94a0-00a9b078b484"	"2024-04-21"
"GENCC_000102-HGNC_1449-MONDO_0002442-HP_0000006-GENCC_100001"	"HGNC:1449"	"CALM3"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1449"	"CALM3"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cc2a1ae-5f3d-445c-b124-f3d38fdd070a-2018-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3cc2a1ae-5f3d-445c-b124-f3d38fdd070a"	"2024-04-21"
"GENCC_000102-HGNC_20407-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:20407"	"CALR3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20407"	"CALR3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-01-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd8036e5-bf01-4b89-b4fc-94080d835d99-2023-01-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fd8036e5-bf01-4b89-b4fc-94080d835d99"	"2024-04-21"
"GENCC_000102-HGNC_1463-MONDO_0032795-HP_0000006-GENCC_100004"	"HGNC:1463"	"CAMK2G"	"MONDO:0032795"	"intellectual developmental disorder 59"	"MONDO:0032795"	"intellectual developmental disorder 59"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1463"	"CAMK2G"	"MONDO:0032795"	"intellectual developmental disorder 59"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-07-30 13:02:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_525f1ddb-a662-4baf-b877-45fc26e07b71-2021-07-30T130229.547Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"525f1ddb-a662-4baf-b877-45fc26e07b71"	"2024-04-21"
"GENCC_000102-HGNC_18806-MONDO_0013886-HP_0000006-GENCC_100001"	"HGNC:18806"	"CAMTA1"	"MONDO:0013886"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"MONDO:0013886"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18806"	"CAMTA1"	"MONDO:0013886"	"cerebellar dysfunction with variable cognitive and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-16 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c099ca83-11be-4d06-b8d7-f2cd8efca1a5-2023-05-16T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c099ca83-11be-4d06-b8d7-f2cd8efca1a5"	"2024-04-21"
"GENCC_000102-HGNC_1480-MONDO_0015151-HP_0000006-GENCC_100004"	"HGNC:1480"	"CAPN3"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1480"	"CAPN3"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c9eee52-920c-47e4-99f9-a5afb97d49f2-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6c9eee52-920c-47e4-99f9-a5afb97d49f2"	"2024-04-21"
"GENCC_000102-HGNC_1480-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:1480"	"CAPN3"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1480"	"CAPN3"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86925075-3fea-401c-90b3-6b40b2b045ca-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"86925075-3fea-401c-90b3-6b40b2b045ca"	"2024-04-21"
"GENCC_000102-HGNC_1482-MONDO_0100450-HP_0000006-GENCC_100001"	"HGNC:1482"	"CAPN5"	"MONDO:0100450"	"CAPN5-related vitreoretinopathy"	"MONDO:0100450"	"CAPN5-related vitreoretinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1482"	"CAPN5"	"MONDO:0100450"	"CAPN5-related vitreoretinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d39e430-b1fc-43f1-957b-1c02eb66a69c-2021-08-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7d39e430-b1fc-43f1-957b-1c02eb66a69c"	"2024-04-21"
"GENCC_000102-HGNC_16393-MONDO_0014645-HP_0000006-GENCC_100001"	"HGNC:16393"	"CARD11"	"MONDO:0014645"	"BENTA disease"	"MONDO:0014645"	"BENTA disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16393"	"CARD11"	"MONDO:0014645"	"BENTA disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-15 13:13:18"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23dd1a19-585b-46bb-9241-682b200bfd7d-2022-03-15T131318.170Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"23dd1a19-585b-46bb-9241-682b200bfd7d"	"2024-04-21"
"GENCC_000102-HGNC_16393-MONDO_0014081-HP_0000007-GENCC_100001"	"HGNC:16393"	"CARD11"	"MONDO:0014081"	"severe combined immunodeficiency due to CARD11 deficiency"	"MONDO:0014081"	"severe combined immunodeficiency due to CARD11 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16393"	"CARD11"	"MONDO:0014081"	"severe combined immunodeficiency due to CARD11 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-15 13:14:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ce06b6f-cf7f-43f3-bf9c-5d3978f1db61-2022-03-15T131409.712Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ce06b6f-cf7f-43f3-bf9c-5d3978f1db61"	"2024-04-21"
"GENCC_000102-HGNC_16393-MONDO_0054697-HP_0000006-GENCC_100001"	"HGNC:16393"	"CARD11"	"MONDO:0054697"	"immunodeficiency 11b with atopic dermatitis"	"MONDO:0054697"	"immunodeficiency 11b with atopic dermatitis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16393"	"CARD11"	"MONDO:0054697"	"immunodeficiency 11b with atopic dermatitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-15 13:12:20"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_603e8c98-82b7-41b5-8174-1fdbfc724a7d-2022-03-15T131220.080Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"603e8c98-82b7-41b5-8174-1fdbfc724a7d"	"2024-04-21"
"GENCC_000102-HGNC_25695-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:25695"	"CARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25695"	"CARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a07aaa07-ad0d-4dac-8751-18242a3f36a9-2022-05-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a07aaa07-ad0d-4dac-8751-18242a3f36a9"	"2024-04-21"
"GENCC_000102-HGNC_1497-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:1497"	"CASK"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:1497"	"CASK"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca0e703c-3fe1-44a1-8632-036554b2f158-2019-07-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca0e703c-3fe1-44a1-8632-036554b2f158"	"2024-04-21"
"GENCC_000102-HGNC_1513-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:1513"	"CASQ2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1513"	"CASQ2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-05-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07177c89-7845-4df5-ba3e-bdd415b5c8b3-2022-05-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"07177c89-7845-4df5-ba3e-bdd415b5c8b3"	"2024-04-21"
"GENCC_000102-HGNC_1513-MONDO_0017990-HP_0000007-GENCC_100001"	"HGNC:1513"	"CASQ2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1513"	"CASQ2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_991ee32e-280d-4bea-a638-aa1b6fa6f781-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"991ee32e-280d-4bea-a638-aa1b6fa6f781"	"2024-04-21"
"GENCC_000102-HGNC_1513-MONDO_0017990-HP_0000006-GENCC_100003"	"HGNC:1513"	"CASQ2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1513"	"CASQ2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c778b145-fcfc-4252-8dd8-33f982b288e8-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c778b145-fcfc-4252-8dd8-33f982b288e8"	"2024-04-21"
"GENCC_000102-HGNC_1514-MONDO_0009397-HP_0000007-GENCC_100001"	"HGNC:1514"	"CASR"	"MONDO:0009397"	"neonatal severe primary hyperparathyroidism"	"MONDO:0009397"	"neonatal severe primary hyperparathyroidism"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1514"	"CASR"	"MONDO:0009397"	"neonatal severe primary hyperparathyroidism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_095b6507-5537-4017-b2b9-28715cc23df7-2023-07-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"095b6507-5537-4017-b2b9-28715cc23df7"	"2024-04-21"
"GENCC_000102-HGNC_1514-MONDO_0007791-HP_0000006-GENCC_100001"	"HGNC:1514"	"CASR"	"MONDO:0007791"	"familial hypocalciuric hypercalcemia 1"	"MONDO:0007791"	"familial hypocalciuric hypercalcemia 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1514"	"CASR"	"MONDO:0007791"	"familial hypocalciuric hypercalcemia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4cb3c61b-f7eb-4682-94af-5fde40c04e26-2023-07-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4cb3c61b-f7eb-4682-94af-5fde40c04e26"	"2024-04-21"
"GENCC_000102-HGNC_1514-MONDO_0005027-HP_0000006-GENCC_100005"	"HGNC:1514"	"CASR"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1514"	"CASR"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-03-03 12:38:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ddebf083-3434-4401-9b6b-9ec24aceec89-2021-03-03T123827.967Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ddebf083-3434-4401-9b6b-9ec24aceec89"	"2024-04-21"
"GENCC_000102-HGNC_1514-MONDO_0011013-HP_0000006-GENCC_100001"	"HGNC:1514"	"CASR"	"MONDO:0011013"	"autosomal dominant hypocalcemia 1"	"MONDO:0011013"	"autosomal dominant hypocalcemia 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1514"	"CASR"	"MONDO:0011013"	"autosomal dominant hypocalcemia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f699475d-1482-4998-a921-939b8be1bc2c-2023-07-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f699475d-1482-4998-a921-939b8be1bc2c"	"2024-04-21"
"GENCC_000102-HGNC_1516-MONDO_0013571-HP_0000007-GENCC_100003"	"HGNC:1516"	"CAT"	"MONDO:0013571"	"acatalasia"	"MONDO:0013571"	"acatalasia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1516"	"CAT"	"MONDO:0013571"	"acatalasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-10-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7381d0cc-74d3-4dfc-bc2e-62416afbb0ee-2022-10-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7381d0cc-74d3-4dfc-bc2e-62416afbb0ee"	"2024-04-21"
"GENCC_000102-HGNC_1527-MONDO_0015924-HP_0000006-GENCC_100001"	"HGNC:1527"	"CAV1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1527"	"CAV1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f4c3d64-7993-4196-a002-6cc9904a4360-2022-11-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f4c3d64-7993-4196-a002-6cc9904a4360"	"2024-04-21"
"GENCC_000102-HGNC_1527-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:1527"	"CAV1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1527"	"CAV1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-12-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cab41529-d295-466c-8821-75a16bb12c38-2023-12-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cab41529-d295-466c-8821-75a16bb12c38"	"2024-04-21"
"GENCC_000102-HGNC_1528-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:1528"	"CAV2"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1528"	"CAV2"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-12-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38faae4c-13ae-4c28-bea4-43e3ad15e178-2023-12-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"38faae4c-13ae-4c28-bea4-43e3ad15e178"	"2024-04-21"
"GENCC_000102-HGNC_1529-MONDO_0002442-HP_0000006-GENCC_100004"	"HGNC:1529"	"CAV3"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1529"	"CAV3"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-12-15 00:28:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74aabddc-3402-46de-ba1e-f66aa273cd9c-2020-12-15T002855.870Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"74aabddc-3402-46de-ba1e-f66aa273cd9c"	"2024-04-21"
"GENCC_000102-HGNC_1529-MONDO_0016146-HP_0000006-GENCC_100001"	"HGNC:1529"	"CAV3"	"MONDO:0016146"	"caveolinopathy"	"MONDO:0016146"	"caveolinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1529"	"CAV3"	"MONDO:0016146"	"caveolinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a314687e-b35d-4bb4-8b93-efcc83d1fa9b-2022-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a314687e-b35d-4bb4-8b93-efcc83d1fa9b"	"2024-04-21"
"GENCC_000102-HGNC_1541-MONDO_0013308-HP_0000006-GENCC_100001"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"MONDO:0013308"	"CBL-related disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1541"	"CBL"	"MONDO:0013308"	"CBL-related disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a1a76fd-7e23-44a7-b2fc-4495bc5d5ee6-2019-04-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4a1a76fd-7e23-44a7-b2fc-4495bc5d5ee6"	"2024-04-21"
"GENCC_000102-HGNC_1550-MONDO_0009352-HP_0000007-GENCC_100001"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"classic homocystinuria"	"MONDO:0009352"	"classic homocystinuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1550"	"CBS"	"MONDO:0009352"	"classic homocystinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9086d29-767b-4ab8-9274-1249b5480834-2019-04-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a9086d29-767b-4ab8-9274-1249b5480834"	"2024-04-21"
"GENCC_000102-HGNC_30237-MONDO_0100038-HP_0000007-GENCC_100001"	"HGNC:30237"	"CC2D1A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30237"	"CC2D1A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63def86b-765e-4f12-93a3-94ef911c3190-2020-01-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"63def86b-765e-4f12-93a3-94ef911c3190"	"2024-04-21"
"GENCC_000102-HGNC_29253-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:29253"	"CC2D2A"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29253"	"CC2D2A"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0acbae16-a383-4345-978c-9d28dda80d02-2022-08-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0acbae16-a383-4345-978c-9d28dda80d02"	"2024-04-21"
"GENCC_000102-HGNC_32700-MONDO_0013854-HP_0000007-GENCC_100001"	"HGNC:32700"	"DNAAF19"	"MONDO:0013854"	"primary ciliary dyskinesia 17"	"MONDO:0013854"	"primary ciliary dyskinesia 17"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:32700"	"CCDC103"	"MONDO:0013854"	"primary ciliary dyskinesia 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 12:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9974aaef-9082-4bcd-b05a-28869447b5de-2022-12-30T120000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9974aaef-9082-4bcd-b05a-28869447b5de"	"2024-04-21"
"GENCC_000102-HGNC_28909-MONDO_0010499-HP_0001417-GENCC_100003"	"HGNC:28909"	"CCDC22"	"MONDO:0010499"	"Ritscher-Schinzel syndrome 2"	"MONDO:0010499"	"Ritscher-Schinzel syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:28909"	"CCDC22"	"MONDO:0010499"	"Ritscher-Schinzel syndrome 2"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d62f7f8-4a91-4e0c-86b2-3f1d5d38d54b-2023-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d62f7f8-4a91-4e0c-86b2-3f1d5d38d54b"	"2024-04-21"
"GENCC_000102-HGNC_25244-MONDO_0013434-HP_0000007-GENCC_100001"	"HGNC:25244"	"CCDC39"	"MONDO:0013434"	"primary ciliary dyskinesia 14"	"MONDO:0013434"	"primary ciliary dyskinesia 14"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25244"	"CCDC39"	"MONDO:0013434"	"primary ciliary dyskinesia 14"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-02 20:43:10"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79c47f13-dd33-45e4-a170-6ff26aa2732c-2021-11-02T204310.116Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"79c47f13-dd33-45e4-a170-6ff26aa2732c"	"2024-04-21"
"GENCC_000102-HGNC_26090-MONDO_0013435-HP_0000007-GENCC_100001"	"HGNC:26090"	"CCDC40"	"MONDO:0013435"	"primary ciliary dyskinesia 15"	"MONDO:0013435"	"primary ciliary dyskinesia 15"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26090"	"CCDC40"	"MONDO:0013435"	"primary ciliary dyskinesia 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-10 03:15:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9c192c6-9f74-4beb-85ba-a42199e9794a-2021-12-10T031508.185Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e9c192c6-9f74-4beb-85ba-a42199e9794a"	"2024-04-21"
"GENCC_000102-HGNC_18111-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:18111"	"CCDC50"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18111"	"CCDC50"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf656dcb-6644-41bb-a29a-d7bdf54b28f7-2021-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cf656dcb-6644-41bb-a29a-d7bdf54b28f7"	"2024-04-21"
"GENCC_000102-HGNC_14153-MONDO_0018947-HP_0000006-GENCC_100004"	"HGNC:14153"	"CCDC78"	"MONDO:0018947"	"centronuclear myopathy"	"MONDO:0018947"	"centronuclear myopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14153"	"CCDC78"	"MONDO:0018947"	"centronuclear myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-12-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_886b45ae-232d-4635-ab94-88a0d15bbcca-2019-12-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"886b45ae-232d-4635-ab94-88a0d15bbcca"	"2024-04-21"
"GENCC_000102-HGNC_1591-MONDO_0030875-HP_0000006-GENCC_100004"	"HGNC:1591"	"CCNF"	"MONDO:0030875"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 5"	"MONDO:0030875"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1591"	"CCNF"	"MONDO:0030875"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-05 23:04:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d6c258c-ce66-459a-a4ae-7376fcefde0d-2022-04-05T230455.308Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7d6c258c-ce66-459a-a4ae-7376fcefde0d"	"2024-04-21"
"GENCC_000102-HGNC_18576-MONDO_0014378-HP_0000007-GENCC_100001"	"HGNC:18576"	"CCNO"	"MONDO:0014378"	"primary ciliary dyskinesia 29"	"MONDO:0014378"	"primary ciliary dyskinesia 29"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18576"	"CCNO"	"MONDO:0014378"	"primary ciliary dyskinesia 29"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20a78ac7-91a7-44a6-b42e-22611de2d170-2022-08-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20a78ac7-91a7-44a6-b42e-22611de2d170"	"2024-04-21"
"GENCC_000102-HGNC_1632-MONDO_0019587-HP_0000006-GENCC_100004"	"HGNC:1632"	"CD164"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1632"	"CD164"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-26 15:30:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9524ca4-7d17-4691-b650-0d457531c7fd-2022-04-26T153012.127Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e9524ca4-7d17-4691-b650-0d457531c7fd"	"2024-04-21"
"GENCC_000102-HGNC_1633-MONDO_0013283-HP_0000007-GENCC_100001"	"HGNC:1633"	"CD19"	"MONDO:0013283"	"immunodeficiency, common variable, 3"	"MONDO:0013283"	"immunodeficiency, common variable, 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1633"	"CD19"	"MONDO:0013283"	"immunodeficiency, common variable, 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6576337-703e-4d76-9120-5f6800730774-2022-05-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a6576337-703e-4d76-9120-5f6800730774"	"2024-04-21"
"GENCC_000102-HGNC_1677-MONDO_0012426-HP_0000007-GENCC_100001"	"HGNC:1677"	"CD247"	"MONDO:0012426"	"immunodeficiency 25"	"MONDO:0012426"	"immunodeficiency 25"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1677"	"CD247"	"MONDO:0012426"	"immunodeficiency 25"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-11 14:05:52"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_438b6c1f-edc0-4a81-9c82-39627e5a69cd-2022-03-11T140552.812Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"438b6c1f-edc0-4a81-9c82-39627e5a69cd"	"2024-04-21"
"GENCC_000102-HGNC_16692-MONDO_0013341-HP_0000007-GENCC_100001"	"HGNC:16692"	"CD320"	"MONDO:0013341"	"methylmalonic acidemia due to transcobalamin receptor defect"	"MONDO:0013341"	"methylmalonic acidemia due to transcobalamin receptor defect"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16692"	"CD320"	"MONDO:0013341"	"methylmalonic acidemia due to transcobalamin receptor defect"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d98515f5-4296-4d41-95a9-adac90c00349-2022-09-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d98515f5-4296-4d41-95a9-adac90c00349"	"2024-04-21"
"GENCC_000102-HGNC_1673-MONDO_0014280-HP_0000007-GENCC_100001"	"HGNC:1673"	"CD3D"	"MONDO:0014280"	"immunodeficiency 19"	"MONDO:0014280"	"immunodeficiency 19"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1673"	"CD3D"	"MONDO:0014280"	"immunodeficiency 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-10 18:54:46"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d59cf46-9acb-42f7-92da-d17113d39b38-2022-05-10T185446.511Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d59cf46-9acb-42f7-92da-d17113d39b38"	"2024-04-21"
"GENCC_000102-HGNC_1674-MONDO_0014278-HP_0000007-GENCC_100001"	"HGNC:1674"	"CD3E"	"MONDO:0014278"	"immunodeficiency 18"	"MONDO:0014278"	"immunodeficiency 18"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1674"	"CD3E"	"MONDO:0014278"	"immunodeficiency 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-26 17:29:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29d6bb32-65b3-4c78-9c94-da71cc591565-2021-01-26T172908.775Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29d6bb32-65b3-4c78-9c94-da71cc591565"	"2024-04-21"
"GENCC_000102-HGNC_1675-MONDO_0014276-HP_0000007-GENCC_100001"	"HGNC:1675"	"CD3G"	"MONDO:0014276"	"combined immunodeficiency due to CD3gamma deficiency"	"MONDO:0014276"	"combined immunodeficiency due to CD3gamma deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1675"	"CD3G"	"MONDO:0014276"	"combined immunodeficiency due to CD3gamma deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ea83aa7-473b-4670-88dd-36b1abe277f8-2021-07-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8ea83aa7-473b-4670-88dd-36b1abe277f8"	"2024-04-21"
"GENCC_000102-HGNC_11919-MONDO_0011735-HP_0000007-GENCC_100001"	"HGNC:11919"	"CD40"	"MONDO:0011735"	"hyper-IgM syndrome type 3"	"MONDO:0011735"	"hyper-IgM syndrome type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11919"	"CD40"	"MONDO:0011735"	"hyper-IgM syndrome type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_debbb2e7-89a7-45b8-b5e1-41ccb56a3423-2022-10-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"debbb2e7-89a7-45b8-b5e1-41ccb56a3423"	"2024-04-21"
"GENCC_000102-HGNC_11935-MONDO_0010626-HP_0001417-GENCC_100001"	"HGNC:11935"	"CD40LG"	"MONDO:0010626"	"hyper-IgM syndrome type 1"	"MONDO:0010626"	"hyper-IgM syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11935"	"CD40LG"	"MONDO:0010626"	"hyper-IgM syndrome type 1"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-22 15:42:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4184ad10-d95f-4027-b75d-e4e11127febf-2021-03-22T154242.503Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4184ad10-d95f-4027-b75d-e4e11127febf"	"2024-04-21"
"GENCC_000102-HGNC_1698-MONDO_0013288-HP_0000007-GENCC_100001"	"HGNC:1698"	"CD79A"	"MONDO:0013288"	"agammaglobulinemia 3, autosomal recessive"	"MONDO:0013288"	"agammaglobulinemia 3, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1698"	"CD79A"	"MONDO:0013288"	"agammaglobulinemia 3, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-15 13:59:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12a6257c-c9ca-432a-ab76-b05985283381-2020-12-15T135909.057Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"12a6257c-c9ca-432a-ab76-b05985283381"	"2024-04-21"
"GENCC_000102-HGNC_1699-MONDO_0012987-HP_0000007-GENCC_100001"	"HGNC:1699"	"CD79B"	"MONDO:0012987"	"agammaglobulinemia 6, autosomal recessive"	"MONDO:0012987"	"agammaglobulinemia 6, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1699"	"CD79B"	"MONDO:0012987"	"agammaglobulinemia 6, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-26 17:10:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c252b2c-2183-4e7d-8ceb-69f7a01cc1d9-2021-01-26T171006.440Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9c252b2c-2183-4e7d-8ceb-69f7a01cc1d9"	"2024-04-21"
"GENCC_000102-HGNC_1701-MONDO_0013286-HP_0000007-GENCC_100004"	"HGNC:1701"	"CD81"	"MONDO:0013286"	"immunodeficiency, common variable, 6"	"MONDO:0013286"	"immunodeficiency, common variable, 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1701"	"CD81"	"MONDO:0013286"	"immunodeficiency, common variable, 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-29 21:08:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2092b4c-a8ff-4b40-bc09-17fbe33aa3e7-2021-04-29T210806.386Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e2092b4c-a8ff-4b40-bc09-17fbe33aa3e7"	"2024-04-21"
"GENCC_000102-HGNC_1706-MONDO_0012161-HP_0000007-GENCC_100004"	"HGNC:1706"	"CD8A"	"MONDO:0012161"	"susceptibility to respiratory infections associated with CD8alpha chain mutation"	"MONDO:0012161"	"susceptibility to respiratory infections associated with CD8alpha chain mutation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1706"	"CD8A"	"MONDO:0012161"	"susceptibility to respiratory infections associated with CD8alpha chain mutation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-08-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f770ad34-1c95-4454-92c7-26bff4404cc2-2022-08-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f770ad34-1c95-4454-92c7-26bff4404cc2"	"2024-04-21"
"GENCC_000102-HGNC_1718-MONDO_0100069-HP_0000007-GENCC_100002"	"HGNC:1718"	"CDC14A"	"MONDO:0100069"	"hearing impairment and infertile male syndrome"	"MONDO:0100069"	"hearing impairment and infertile male syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1718"	"CDC14A"	"MONDO:0100069"	"hearing impairment and infertile male syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_144089d2-83ec-4c6c-8b43-9a4cae801d51-2023-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"144089d2-83ec-4c6c-8b43-9a4cae801d51"	"2024-04-21"
"GENCC_000102-HGNC_1718-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:1718"	"CDC14A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1718"	"CDC14A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-02-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e869e4b1-30e2-4d9b-9b69-124903d7b307-2018-02-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e869e4b1-30e2-4d9b-9b69-124903d7b307"	"2024-04-21"
"GENCC_000102-HGNC_1736-MONDO_0014757-HP_0000006-GENCC_100001"	"HGNC:1736"	"CDC42"	"MONDO:0014757"	"macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"	"MONDO:0014757"	"macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1736"	"CDC42"	"MONDO:0014757"	"macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-27 16:26:23"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95177a3a-0dca-4945-8a44-f63697739cef-2021-10-27T162623.932Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"95177a3a-0dca-4945-8a44-f63697739cef"	"2024-04-21"
"GENCC_000102-HGNC_1739-MONDO_0014894-HP_0000007-GENCC_100001"	"HGNC:1739"	"CDC45"	"MONDO:0014894"	"Meier-Gorlin syndrome 7"	"MONDO:0014894"	"Meier-Gorlin syndrome 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1739"	"CDC45"	"MONDO:0014894"	"Meier-Gorlin syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab0dc4e6-06ae-4f78-8393-05ac2bbb563f-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab0dc4e6-06ae-4f78-8393-05ac2bbb563f"	"2024-04-21"
"GENCC_000102-HGNC_16783-MONDO_0007768-HP_0000006-GENCC_100001"	"HGNC:16783"	"CDC73"	"MONDO:0007768"	"hyperparathyroidism 2 with jaw tumors"	"MONDO:0007768"	"hyperparathyroidism 2 with jaw tumors"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16783"	"CDC73"	"MONDO:0007768"	"hyperparathyroidism 2 with jaw tumors"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5bd498b-dc86-4f2d-a51b-48baf7017a02-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a5bd498b-dc86-4f2d-a51b-48baf7017a02"	"2024-04-21"
"GENCC_000102-HGNC_14628-MONDO_0014828-HP_0000007-GENCC_100004"	"HGNC:14628"	"CDCA7"	"MONDO:0014828"	"immunodeficiency-centromeric instability-facial anomalies syndrome 3"	"MONDO:0014828"	"immunodeficiency-centromeric instability-facial anomalies syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14628"	"CDCA7"	"MONDO:0014828"	"immunodeficiency-centromeric instability-facial anomalies syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-04-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_357faf0e-a1db-4240-8268-bc9925a2c0ef-2023-04-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"357faf0e-a1db-4240-8268-bc9925a2c0ef"	"2024-04-21"
"GENCC_000102-HGNC_1748-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:1748"	"CDH1"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1748"	"CDH1"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-08-03 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8503"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8503"	"2024-04-21"
"GENCC_000102-HGNC_1754-MONDO_0001071-HP_0000006-GENCC_100005"	"HGNC:1754"	"CDH15"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1754"	"CDH15"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-02-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9295bddb-d61c-47c2-b186-97296b9c4d94-2021-02-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9295bddb-d61c-47c2-b186-97296b9c4d94"	"2024-04-21"
"GENCC_000102-HGNC_1759-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:1759"	"CDH2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1759"	"CDH2"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-27 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c7b4274-6326-4904-9973-4d0223c5081b-2023-11-27T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1c7b4274-6326-4904-9973-4d0223c5081b"	"2024-04-21"
"GENCC_000102-HGNC_1759-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:1759"	"CDH2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1759"	"CDH2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-07-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7a03805-bf73-4d2d-9756-c666c67be119-2018-07-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c7a03805-bf73-4d2d-9756-c666c67be119"	"2024-04-21"
"GENCC_000102-HGNC_13733-MONDO_0010168-HP_0000007-GENCC_100001"	"HGNC:13733"	"CDH23"	"MONDO:0010168"	"Usher syndrome type 1"	"MONDO:0010168"	"Usher syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13733"	"CDH23"	"MONDO:0010168"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-01-30 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5610"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5610"	"2024-04-21"
"GENCC_000102-HGNC_13733-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:13733"	"CDH23"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13733"	"CDH23"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-22 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5799772-f233-4004-99a8-e6a0dddf0e8b-2018-05-22T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f5799772-f233-4004-99a8-e6a0dddf0e8b"	"2024-04-21"
"GENCC_000102-HGNC_1762-MONDO_0009155-HP_0000007-GENCC_100001"	"HGNC:1762"	"CDH3"	"MONDO:0009155"	"EEM syndrome"	"MONDO:0009155"	"EEM syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1762"	"CDH3"	"MONDO:0009155"	"EEM syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5791d618-93bf-4517-9c60-48e6490319a6-2021-08-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5791d618-93bf-4517-9c60-48e6490319a6"	"2024-04-21"
"GENCC_000102-HGNC_1733-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:1733"	"CDK13"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1733"	"CDK13"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-31 22:57:20"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c594bcfa-2b2c-425a-8285-74bae8e01da8-2021-12-31T225720.705Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c594bcfa-2b2c-425a-8285-74bae8e01da8"	"2024-04-21"
"GENCC_000102-HGNC_8749-MONDO_0100148-HP_0001417-GENCC_100004"	"HGNC:8749"	"CDK16"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8749"	"CDK16"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-10-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93557c1a-c141-4833-bcbb-83fccbd7d761-2021-10-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93557c1a-c141-4833-bcbb-83fccbd7d761"	"2024-04-21"
"GENCC_000102-HGNC_1773-MONDO_0012183-HP_0000006-GENCC_100001"	"HGNC:1773"	"CDK4"	"MONDO:0012183"	"melanoma, cutaneous malignant, susceptibility to, 3"	"MONDO:0012183"	"melanoma, cutaneous malignant, susceptibility to, 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1773"	"CDK4"	"MONDO:0012183"	"melanoma, cutaneous malignant, susceptibility to, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-13 19:44:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca76579b-1432-4edc-84e8-b3332dce4ede-2020-01-13T194434.667Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca76579b-1432-4edc-84e8-b3332dce4ede"	"2024-04-21"
"GENCC_000102-HGNC_18672-MONDO_0016660-HP_0000007-GENCC_100001"	"HGNC:18672"	"CDK5RAP2"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18672"	"CDK5RAP2"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70dace84-4d61-44f5-9de5-a81b5c70cad4-2022-01-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"70dace84-4d61-44f5-9de5-a81b5c70cad4"	"2024-04-21"
"GENCC_000102-HGNC_11411-MONDO_0100039-HP_0001417-GENCC_100001"	"HGNC:11411"	"CDKL5"	"MONDO:0100039"	"CDKL5 disorder"	"MONDO:0100039"	"CDKL5 disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11411"	"CDKL5"	"MONDO:0100039"	"CDKL5 disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-02 14:57:31"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a80cd86d-b085-4f35-9379-12a53ef367e2-2018-07-02T145731.072Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a80cd86d-b085-4f35-9379-12a53ef367e2"	"2024-04-21"
"GENCC_000102-HGNC_1785-MONDO_0018630-HP_0000007-GENCC_100004"	"HGNC:1785"	"CDKN1B"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1785"	"CDKN1B"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-06-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8434"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8434"	"2024-04-21"
"GENCC_000102-HGNC_1785-MONDO_0012552-HP_0000006-GENCC_100001"	"HGNC:1785"	"CDKN1B"	"MONDO:0012552"	"multiple endocrine neoplasia type 4"	"MONDO:0012552"	"multiple endocrine neoplasia type 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1785"	"CDKN1B"	"MONDO:0012552"	"multiple endocrine neoplasia type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-21 15:48:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b07f8882-dd5e-4831-9926-f8b4c2a8c265-2018-12-21T154854.477Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b07f8882-dd5e-4831-9926-f8b4c2a8c265"	"2024-04-21"
"GENCC_000102-HGNC_1787-MONDO_0011713-HP_0000006-GENCC_100001"	"HGNC:1787"	"CDKN2A"	"MONDO:0011713"	"melanoma-pancreatic cancer syndrome"	"MONDO:0011713"	"melanoma-pancreatic cancer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1787"	"CDKN2A"	"MONDO:0011713"	"melanoma-pancreatic cancer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-08-14 19:45:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c0d2fc0-12b2-4855-b537-60394d0987dd-2019-08-14T194547.089Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0c0d2fc0-12b2-4855-b537-60394d0987dd"	"2024-04-21"
"GENCC_000102-HGNC_24576-MONDO_0013431-HP_0000007-GENCC_100001"	"HGNC:24576"	"CDT1"	"MONDO:0013431"	"Meier-Gorlin syndrome 4"	"MONDO:0013431"	"Meier-Gorlin syndrome 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24576"	"CDT1"	"MONDO:0013431"	"Meier-Gorlin syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dfc9602f-fb88-419a-8955-6d7c00a52158-2023-03-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dfc9602f-fb88-419a-8955-6d7c00a52158"	"2024-04-21"
"GENCC_000102-HGNC_31948-MONDO_0019497-HP_0000007-GENCC_100002"	"HGNC:31948"	"CEACAM16"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:31948"	"CEACAM16"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-12-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcc9ab02-1df0-485a-a806-2651171120cd-2022-12-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bcc9ab02-1df0-485a-a806-2651171120cd"	"2024-04-21"
"GENCC_000102-HGNC_31948-MONDO_0019497-HP_0000006-GENCC_100003"	"HGNC:31948"	"CEACAM16"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:31948"	"CEACAM16"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e25cadf1-752a-495d-aaf2-30565519518a-2022-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e25cadf1-752a-495d-aaf2-30565519518a"	"2024-04-21"
"GENCC_000102-HGNC_1833-MONDO_0018874-HP_0000006-GENCC_100001"	"HGNC:1833"	"CEBPA"	"MONDO:0018874"	"acute myeloid leukemia"	"MONDO:0018874"	"acute myeloid leukemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1833"	"CEBPA"	"MONDO:0018874"	"acute myeloid leukemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-08-18 15:59:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4234367e-149b-4f13-9243-341396fb4ccf-2019-08-18T155916.225Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4234367e-149b-4f13-9243-341396fb4ccf"	"2024-04-21"
"GENCC_000102-HGNC_1848-MONDO_0012348-HP_0000006-GENCC_100003"	"HGNC:1848"	"CEL"	"MONDO:0012348"	"maturity-onset diabetes of the young type 8"	"MONDO:0012348"	"maturity-onset diabetes of the young type 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1848"	"CEL"	"MONDO:0012348"	"maturity-onset diabetes of the young type 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06571680-3730-4075-8e65-f6de7ddd3e62-2023-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"06571680-3730-4075-8e65-f6de7ddd3e62"	"2024-04-21"
"GENCC_000102-HGNC_29213-MONDO_0019497-HP_0000007-GENCC_100005"	"HGNC:29213"	"CEMIP"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29213"	"CEMIP"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-07-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27d840d2-1f58-4d1c-9f6e-307db9f41b60-2018-07-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"27d840d2-1f58-4d1c-9f6e-307db9f41b60"	"2024-04-21"
"GENCC_000102-HGNC_1856-MONDO_0016660-HP_0000007-GENCC_100004"	"HGNC:1856"	"CENPE"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1856"	"CENPE"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-12-19 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_830f266d-32bd-4d1f-9867-e97ffe6f2eae-2023-12-19T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"830f266d-32bd-4d1f-9867-e97ffe6f2eae"	"2024-04-21"
"GENCC_000102-HGNC_17272-MONDO_0700054-HP_0000007-GENCC_100001"	"HGNC:17272"	"CPAP"	"MONDO:0700054"	"microcephaly 6 with or without short stature"	"MONDO:0700054"	"microcephaly 6 with or without short stature"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17272"	"CENPJ"	"MONDO:0700054"	"microcephaly 6 with or without short stature"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-21 10:44:14"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c10510c1-2c0e-466e-928a-77d896159d06-2022-05-21T104414.354Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c10510c1-2c0e-466e-928a-77d896159d06"	"2024-04-21"
"GENCC_000102-HGNC_29298-MONDO_0100346-HP_0000007-GENCC_100001"	"HGNC:29298"	"CEP152"	"MONDO:0100346"	"microcephaly with or without short stature"	"MONDO:0100346"	"microcephaly with or without short stature"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29298"	"CEP152"	"MONDO:0100346"	"microcephaly with or without short stature"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52841ad8-48fd-4b71-bf08-828656cd83f6-2022-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"52841ad8-48fd-4b71-bf08-828656cd83f6"	"2024-04-21"
"GENCC_000102-HGNC_29182-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:29182"	"CEP164"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29182"	"CEP164"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_961b81f6-7ad1-49e2-b675-c035b4d8d35d-2021-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"961b81f6-7ad1-49e2-b675-c035b4d8d35d"	"2024-04-21"
"GENCC_000102-HGNC_29021-MONDO_0100451-HP_0000007-GENCC_100001"	"HGNC:29021"	"CEP290"	"MONDO:0100451"	"CEP290-related ciliopathy"	"MONDO:0100451"	"CEP290-related ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29021"	"CEP290"	"MONDO:0100451"	"CEP290-related ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec24317e-70bc-48a0-999b-f960f951e8dd-2022-02-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ec24317e-70bc-48a0-999b-f960f951e8dd"	"2024-04-21"
"GENCC_000102-HGNC_30794-MONDO_0013582-HP_0000007-GENCC_100001"	"HGNC:30794"	"CEP57"	"MONDO:0013582"	"mosaic variegated aneuploidy syndrome 2"	"MONDO:0013582"	"mosaic variegated aneuploidy syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30794"	"CEP57"	"MONDO:0013582"	"mosaic variegated aneuploidy syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-22 14:53:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c44921de-14cf-4907-8bef-1525329ee89c-2019-11-22T145303.972Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c44921de-14cf-4907-8bef-1525329ee89c"	"2024-04-21"
"GENCC_000102-HGNC_25740-MONDO_0014980-HP_0000007-GENCC_100002"	"HGNC:25740"	"CEP78"	"MONDO:0014980"	"cone-rod dystrophy and hearing loss"	"MONDO:0014980"	"cone-rod dystrophy and hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25740"	"CEP78"	"MONDO:0014980"	"cone-rod dystrophy and hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2017-04-12 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8149"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8149"	"2024-04-21"
"GENCC_000102-HGNC_21699-MONDO_0800401-HP_0000007-GENCC_100001"	"HGNC:21699"	"CERKL"	"MONDO:0800401"	"CERKL-related retinopathy"	"MONDO:0800401"	"CERKL-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21699"	"CERKL"	"MONDO:0800401"	"CERKL-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3003820-dc03-4eb1-921a-6eaee749fa9f-2022-09-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a3003820-dc03-4eb1-921a-6eaee749fa9f"	"2024-04-21"
"GENCC_000102-HGNC_33720-MONDO_0016575-HP_0000007-GENCC_100003"	"HGNC:33720"	"CFAP221"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:33720"	"CFAP221"	"MONDO:0016575"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7c841e5-2973-4f23-8603-970e9e2cbc92-2023-08-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c7c841e5-2973-4f23-8603-970e9e2cbc92"	"2024-04-21"
"GENCC_000102-HGNC_1301-MONDO_0014211-HP_0000007-GENCC_100003"	"HGNC:1301"	"CFAP298"	"MONDO:0014211"	"primary ciliary dyskinesia 26"	"MONDO:0014211"	"primary ciliary dyskinesia 26"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1301"	"CFAP298"	"MONDO:0014211"	"primary ciliary dyskinesia 26"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f29143ae-869e-4e4c-8464-8c61f2c2663c-2023-08-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f29143ae-869e-4e4c-8464-8c61f2c2663c"	"2024-04-21"
"GENCC_000102-HGNC_28188-MONDO_0054843-HP_0000007-GENCC_100001"	"HGNC:28188"	"CFAP300"	"MONDO:0054843"	"ciliary dyskinesia, primary, 38"	"MONDO:0054843"	"ciliary dyskinesia, primary, 38"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28188"	"CFAP300"	"MONDO:0054843"	"ciliary dyskinesia, primary, 38"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-08 11:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bcfa4e4-37a3-43a7-9b4d-60554bc7600c-2022-09-08T110000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6bcfa4e4-37a3-43a7-9b4d-60554bc7600c"	"2024-04-21"
"GENCC_000102-HGNC_26684-MONDO_0054723-HP_0000007-GENCC_100001"	"HGNC:26684"	"CFAP43"	"MONDO:0054723"	"spermatogenic failure 19"	"MONDO:0054723"	"spermatogenic failure 19"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26684"	"CFAP43"	"MONDO:0054723"	"spermatogenic failure 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-14 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5055c70-e22e-47e5-af3b-04f3f2a0ed34-2022-12-14T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a5055c70-e22e-47e5-af3b-04f3f2a0ed34"	"2024-04-21"
"GENCC_000102-HGNC_26684-MONDO_0016575-HP_0000005-GENCC_100005"	"HGNC:26684"	"CFAP43"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:26684"	"CFAP43"	"MONDO:0016575"	"primary ciliary dyskinesia"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-12-29 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2622390-3981-4f40-8c28-194fb13dd35a-2022-12-29T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f2622390-3981-4f40-8c28-194fb13dd35a"	"2024-04-21"
"GENCC_000102-HGNC_26684-MONDO_0009366-HP_0000006-GENCC_100004"	"HGNC:26684"	"CFAP43"	"MONDO:0009366"	"normal pressure hydrocephalus"	"MONDO:0009366"	"normal pressure hydrocephalus"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26684"	"CFAP43"	"MONDO:0009366"	"normal pressure hydrocephalus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-13 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff67c788-1b69-4da8-84df-f37741c9913f-2022-12-13T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff67c788-1b69-4da8-84df-f37741c9913f"	"2024-04-21"
"GENCC_000102-HGNC_26708-MONDO_0025354-HP_0001417-GENCC_100004"	"HGNC:26708"	"CFAP47"	"MONDO:0025354"	"spermatogenic failure, X-linked, 3"	"MONDO:0025354"	"spermatogenic failure, X-linked, 3"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:26708"	"CFAP47"	"MONDO:0025354"	"spermatogenic failure, X-linked, 3"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d2e51e3-fec5-4aa8-a093-d316c4feec02-2023-02-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5d2e51e3-fec5-4aa8-a093-d316c4feec02"	"2024-04-21"
"GENCC_000102-HGNC_26485-MONDO_0016575-HP_0000007-GENCC_100004"	"HGNC:26485"	"CFAP57"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26485"	"CFAP57"	"MONDO:0016575"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50ed292f-0044-4c82-9419-a040cbcaf205-2022-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"50ed292f-0044-4c82-9419-a040cbcaf205"	"2024-04-21"
"GENCC_000102-HGNC_29368-MONDO_0016575-HP_0000007-GENCC_100004"	"HGNC:29368"	"CFAP74"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29368"	"CFAP74"	"MONDO:0016575"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-10-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5a065a6-73b9-46ba-89a2-afadedb4b82c-2023-10-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e5a065a6-73b9-46ba-89a2-afadedb4b82c"	"2024-04-21"
"GENCC_000102-HGNC_1037-MONDO_0013042-HP_0000006-GENCC_100003"	"HGNC:1037"	"CFB"	"MONDO:0013042"	"atypical hemolytic-uremic syndrome with B factor anomaly"	"MONDO:0013042"	"atypical hemolytic-uremic syndrome with B factor anomaly"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1037"	"CFB"	"MONDO:0013042"	"atypical hemolytic-uremic syndrome with B factor anomaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee0e92dc-42db-450e-8e8d-804e5fb4eda8-2023-07-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ee0e92dc-42db-450e-8e8d-804e5fb4eda8"	"2024-04-21"
"GENCC_000102-HGNC_4883-MONDO_0018904-HP_0000007-GENCC_100001"	"HGNC:4883"	"CFH"	"MONDO:0018904"	"primary membranoproliferative glomerulonephritis"	"MONDO:0018904"	"primary membranoproliferative glomerulonephritis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4883"	"CFH"	"MONDO:0018904"	"primary membranoproliferative glomerulonephritis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9eeff991-b5ac-4d1b-a128-47fa2306c1c5-2024-03-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9eeff991-b5ac-4d1b-a128-47fa2306c1c5"	"2024-04-21"
"GENCC_000102-HGNC_4883-MONDO_0016244-HP_0032113-GENCC_100001"	"HGNC:4883"	"CFH"	"MONDO:0016244"	"atypical hemolytic-uremic syndrome"	"MONDO:0016244"	"atypical hemolytic-uremic syndrome"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:4883"	"CFH"	"MONDO:0016244"	"atypical hemolytic-uremic syndrome"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0a234f8-1d8e-4a26-a76f-40219591c75c-2023-07-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b0a234f8-1d8e-4a26-a76f-40219591c75c"	"2024-04-21"
"GENCC_000102-HGNC_5394-MONDO_0016244-HP_0000006-GENCC_100001"	"HGNC:5394"	"CFI"	"MONDO:0016244"	"atypical hemolytic-uremic syndrome"	"MONDO:0016244"	"atypical hemolytic-uremic syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5394"	"CFI"	"MONDO:0016244"	"atypical hemolytic-uremic syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5fcd7c-0da5-4ba3-b0c6-2d40f985c418-2023-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3a5fcd7c-0da5-4ba3-b0c6-2d40f985c418"	"2024-04-21"
"GENCC_000102-HGNC_1875-MONDO_0012538-HP_0000007-GENCC_100001"	"HGNC:1875"	"CFL2"	"MONDO:0012538"	"nemaline myopathy 7"	"MONDO:0012538"	"nemaline myopathy 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1875"	"CFL2"	"MONDO:0012538"	"nemaline myopathy 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-25 15:01:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c04b972-6797-42e7-87e8-ee97eb0bbad7-2019-11-25T150139.061Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3c04b972-6797-42e7-87e8-ee97eb0bbad7"	"2024-04-21"
"GENCC_000102-HGNC_20311-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:20311"	"CHAMP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20311"	"CHAMP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-11 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c67e6d5-1d58-4544-85e3-3078eec26231-2024-01-11T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4c67e6d5-1d58-4544-85e3-3078eec26231"	"2024-04-21"
"GENCC_000102-HGNC_15559-MONDO_0044970-HP_0000006-GENCC_100001"	"HGNC:15559"	"CHCHD10"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15559"	"CHCHD10"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6940c6eb-dacf-46ce-a08c-d8b9f98b04ae-2023-05-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6940c6eb-dacf-46ce-a08c-d8b9f98b04ae"	"2024-04-21"
"GENCC_000102-HGNC_15559-MONDO_0014395-HP_0000006-GENCC_100003"	"HGNC:15559"	"CHCHD10"	"MONDO:0014395"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"MONDO:0014395"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15559"	"CHCHD10"	"MONDO:0014395"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d154f67a-25ce-40d3-9de3-1f001753843a-2022-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d154f67a-25ce-40d3-9de3-1f001753843a"	"2024-04-21"
"GENCC_000102-HGNC_1916-MONDO_0019719-HP_0000006-GENCC_100004"	"HGNC:1916"	"CHD1L"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1916"	"CHD1L"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-11-18 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3220"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3220"	"2024-04-21"
"GENCC_000102-HGNC_1917-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:1917"	"CHD2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1917"	"CHD2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-14 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5af80ea6-31c6-47d2-a5a5-299380f5593c-2022-07-14T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5af80ea6-31c6-47d2-a5a5-299380f5593c"	"2024-04-21"
"GENCC_000102-HGNC_1918-MONDO_0032600-HP_0000006-GENCC_100001"	"HGNC:1918"	"CHD3"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1918"	"CHD3"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e94c7c1-9c13-4189-8a9f-e9808916526f-2022-03-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0e94c7c1-9c13-4189-8a9f-e9808916526f"	"2024-04-21"
"GENCC_000102-HGNC_1919-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:1919"	"CHD4"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1919"	"CHD4"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1795399-d5bc-456d-bc6b-be07d7ab6af6-2023-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1795399-d5bc-456d-bc6b-be07d7ab6af6"	"2024-04-21"
"GENCC_000102-HGNC_20626-MONDO_0008965-HP_0000006-GENCC_100001"	"HGNC:20626"	"CHD7"	"MONDO:0008965"	"CHARGE syndrome"	"MONDO:0008965"	"CHARGE syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20626"	"CHD7"	"MONDO:0008965"	"CHARGE syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-08-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26ae5799-567b-431b-b981-3bc2f8635802-2018-08-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"26ae5799-567b-431b-b981-3bc2f8635802"	"2024-04-21"
"GENCC_000102-HGNC_20153-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:20153"	"CHD8"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20153"	"CHD8"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3134b4e1-2fee-4025-99af-b2146cc2ccf8-2018-07-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3134b4e1-2fee-4025-99af-b2146cc2ccf8"	"2024-04-21"
"GENCC_000102-HGNC_1925-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:1925"	"CHEK1"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1925"	"CHEK1"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2016-10-12 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8504"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8504"	"2024-04-21"
"GENCC_000102-HGNC_1925-MONDO_0016419-HP_0000006-GENCC_100008"	"HGNC:1925"	"CHEK1"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1925"	"CHEK1"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2016-10-12 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8505"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8505"	"2024-04-21"
"GENCC_000102-HGNC_16627-MONDO_0016419-HP_0000006-GENCC_100001"	"HGNC:16627"	"CHEK2"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16627"	"CHEK2"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-12-14 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8522"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8522"	"2024-04-21"
"GENCC_000102-HGNC_16627-MONDO_0016248-HP_0000006-GENCC_100005"	"HGNC:16627"	"CHEK2"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16627"	"CHEK2"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2016-12-14 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8523"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8523"	"2024-04-21"
"GENCC_000102-HGNC_16627-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:16627"	"CHEK2"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16627"	"CHEK2"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-03-13 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9862"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9862"	"2024-04-21"
"GENCC_000102-HGNC_1940-MONDO_0010557-HP_0001417-GENCC_100001"	"HGNC:1940"	"CHM"	"MONDO:0010557"	"choroideremia"	"MONDO:0010557"	"choroideremia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:1940"	"CHM"	"MONDO:0010557"	"choroideremia"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-26 12:47:04"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d84b01d6-8b3c-4a1e-bd25-68ee6962f374-2020-10-26T124704.094Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d84b01d6-8b3c-4a1e-bd25-68ee6962f374"	"2024-04-21"
"GENCC_000102-HGNC_24537-MONDO_0010936-HP_0000006-GENCC_100001"	"HGNC:24537"	"CHMP2B"	"MONDO:0010936"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"MONDO:0010936"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24537"	"CHMP2B"	"MONDO:0010936"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_287cab44-b8b6-411c-903a-6214ac5e98af-2022-07-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"287cab44-b8b6-411c-903a-6214ac5e98af"	"2024-04-21"
"GENCC_000102-HGNC_1943-MONDO_0011444-HP_0000006-GENCC_100003"	"HGNC:1943"	"CHN1"	"MONDO:0011444"	"Duane retraction syndrome 2"	"MONDO:0011444"	"Duane retraction syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1943"	"CHN1"	"MONDO:0011444"	"Duane retraction syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-07-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c19544e0-2fb1-4d8a-b1ad-f493068f76bb-2022-07-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c19544e0-2fb1-4d8a-b1ad-f493068f76bb"	"2024-04-21"
"GENCC_000102-HGNC_1949-MONDO_0005453-HP_0000007-GENCC_100004"	"HGNC:1949"	"CHRD"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1949"	"CHRD"	"MONDO:0005453"	"congenital heart disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-10-17 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e02b93a-df51-490f-bc2a-d0881cff957d-2023-10-17T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1e02b93a-df51-490f-bc2a-d0881cff957d"	"2024-04-21"
"GENCC_000102-HGNC_1956-MONDO_0000030-HP_0000006-GENCC_100004"	"HGNC:1956"	"CHRNA2"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1956"	"CHRNA2"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-12-25 01:56:52"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f832b8a-af5a-494e-bfdb-70cc619addf1-2020-12-25T015652.186Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0f832b8a-af5a-494e-bfdb-70cc619addf1"	"2024-04-21"
"GENCC_000102-HGNC_1956-MONDO_0017615-HP_0000006-GENCC_100005"	"HGNC:1956"	"CHRNA2"	"MONDO:0017615"	"benign familial infantile epilepsy"	"MONDO:0017615"	"benign familial infantile epilepsy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1956"	"CHRNA2"	"MONDO:0017615"	"benign familial infantile epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-01-07 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7916abab-d963-4e9c-8913-1decc21b680c-2020-01-07T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7916abab-d963-4e9c-8913-1decc21b680c"	"2024-04-21"
"GENCC_000102-HGNC_1958-MONDO_0000030-HP_0000006-GENCC_100001"	"HGNC:1958"	"CHRNA4"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1958"	"CHRNA4"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3aa0108-5514-48ba-a09c-5506b2030d1f-2020-02-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e3aa0108-5514-48ba-a09c-5506b2030d1f"	"2024-04-21"
"GENCC_000102-HGNC_1960-MONDO_0005027-HP_0000005-GENCC_100006"	"HGNC:1960"	"CHRNA7"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:1960"	"CHRNA7"	"MONDO:0005027"	"epilepsy"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33edac94-9867-4b3f-9d46-2d7a86f4301b-2023-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"33edac94-9867-4b3f-9d46-2d7a86f4301b"	"2024-04-21"
"GENCC_000102-HGNC_1962-MONDO_0000030-HP_0000006-GENCC_100001"	"HGNC:1962"	"CHRNB2"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1962"	"CHRNB2"	"MONDO:0000030"	"sleep-related hypermotor epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed365ac2-8cfa-4ae9-8fef-323dd596a22f-2023-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ed365ac2-8cfa-4ae9-8fef-323dd596a22f"	"2024-04-21"
"GENCC_000102-HGNC_1967-MONDO_0100158-HP_0000007-GENCC_100001"	"HGNC:1967"	"CHRNG"	"MONDO:0100158"	"CHRNG-associated hypo-akinesia disorder of prenatal onset"	"MONDO:0100158"	"CHRNG-associated hypo-akinesia disorder of prenatal onset"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1967"	"CHRNG"	"MONDO:0100158"	"CHRNG-associated hypo-akinesia disorder of prenatal onset"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c68f759b-0c39-417c-a192-99f9c0e4eeb5-2023-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c68f759b-0c39-417c-a192-99f9c0e4eeb5"	"2024-04-21"
"GENCC_000102-HGNC_24579-MONDO_0010168-HP_0000007-GENCC_100006"	"HGNC:24579"	"CIB2"	"MONDO:0010168"	"Usher syndrome type 1"	"MONDO:0010168"	"Usher syndrome type 1"	"GENCC:100006"	"Refuted Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24579"	"CIB2"	"MONDO:0010168"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2019-02-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95709038-78a4-4043-a054-9cbe245d2588-2019-02-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"95709038-78a4-4043-a054-9cbe245d2588"	"2024-04-21"
"GENCC_000102-HGNC_24579-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:24579"	"CIB2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24579"	"CIB2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4187cb6-182f-43fc-aeec-d27297c36bdb-2018-02-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d4187cb6-182f-43fc-aeec-d27297c36bdb"	"2024-04-21"
"GENCC_000102-HGNC_7067-MONDO_0008855-HP_0000007-GENCC_100001"	"HGNC:7067"	"CIITA"	"MONDO:0008855"	"MHC class II deficiency"	"MONDO:0008855"	"MHC class II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7067"	"CIITA"	"MONDO:0008855"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0dab225e-0bdd-4f96-a351-4e490601ba15-2022-11-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0dab225e-0bdd-4f96-a351-4e490601ba15"	"2024-04-21"
"GENCC_000102-HGNC_24212-MONDO_0018105-HP_0000007-GENCC_100001"	"HGNC:24212"	"CISD2"	"MONDO:0018105"	"Wolfram syndrome"	"MONDO:0018105"	"Wolfram syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24212"	"CISD2"	"MONDO:0018105"	"Wolfram syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a18d59c-c00c-4bb3-b6d6-1e59b92d1313-2023-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0a18d59c-c00c-4bb3-b6d6-1e59b92d1313"	"2024-04-21"
"GENCC_000102-HGNC_2020-MONDO_0005027-HP_0000006-GENCC_100006"	"HGNC:2020"	"CLCN2"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2020"	"CLCN2"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2022-03-15 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba2a1616-b3d7-4762-a546-c838333db683-2022-03-15T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ba2a1616-b3d7-4762-a546-c838333db683"	"2024-04-21"
"GENCC_000102-HGNC_2022-MONDO_0019181-HP_0001417-GENCC_100001"	"HGNC:2022"	"CLCN4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2022"	"CLCN4"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54fbcbc8-77d7-4496-8527-1171cdd7452c-2017-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"54fbcbc8-77d7-4496-8527-1171cdd7452c"	"2024-04-21"
"GENCC_000102-HGNC_2025-MONDO_0032805-HP_0000006-GENCC_100003"	"HGNC:2025"	"CLCN7"	"MONDO:0032805"	"hypopigmentation, organomegaly, and delayed myelination and development"	"MONDO:0032805"	"hypopigmentation, organomegaly, and delayed myelination and development"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2025"	"CLCN7"	"MONDO:0032805"	"hypopigmentation, organomegaly, and delayed myelination and development"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-12-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e47aa25-2107-4e36-8fa8-f9e81eb9de69-2023-12-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0e47aa25-2107-4e36-8fa8-f9e81eb9de69"	"2024-04-21"
"GENCC_000102-HGNC_2025-MONDO_0008156-HP_0000006-GENCC_100001"	"HGNC:2025"	"CLCN7"	"MONDO:0008156"	"autosomal dominant osteopetrosis 2"	"MONDO:0008156"	"autosomal dominant osteopetrosis 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2025"	"CLCN7"	"MONDO:0008156"	"autosomal dominant osteopetrosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23840c1f-9d30-4ccf-9fc0-604a0cb12eb4-2023-12-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"23840c1f-9d30-4ccf-9fc0-604a0cb12eb4"	"2024-04-21"
"GENCC_000102-HGNC_2025-MONDO_0012676-HP_0000007-GENCC_100001"	"HGNC:2025"	"CLCN7"	"MONDO:0012676"	"autosomal recessive osteopetrosis 4"	"MONDO:0012676"	"autosomal recessive osteopetrosis 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2025"	"CLCN7"	"MONDO:0012676"	"autosomal recessive osteopetrosis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_651b6ac5-131e-48b2-9869-71f2a9b42dbe-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"651b6ac5-131e-48b2-9869-71f2a9b42dbe"	"2024-04-21"
"GENCC_000102-HGNC_2035-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:2035"	"CLDN14"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2035"	"CLDN14"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17528cdb-97e0-4128-92de-9e419902aa62-2018-05-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"17528cdb-97e0-4128-92de-9e419902aa62"	"2024-04-21"
"GENCC_000102-HGNC_2063-MONDO_0100148-HP_0001417-GENCC_100005"	"HGNC:2063"	"CLIC2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2063"	"CLIC2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e8ec6b8-5189-43eb-a741-833c77e7ce91-2021-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3e8ec6b8-5189-43eb-a741-833c77e7ce91"	"2024-04-21"
"GENCC_000102-HGNC_2074-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:2074"	"CLN3"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2074"	"CLN3"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-04 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6be652b4-092f-4d1c-9606-4dfeb689c4b9-2023-04-04T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6be652b4-092f-4d1c-9606-4dfeb689c4b9"	"2024-04-21"
"GENCC_000102-HGNC_2076-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:2076"	"CLN5"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2076"	"CLN5"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-08 02:39:30"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a522b1d6-5ade-4749-94b8-d5426bbe5961-2021-09-08T023930.981Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a522b1d6-5ade-4749-94b8-d5426bbe5961"	"2024-04-21"
"GENCC_000102-HGNC_2077-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:2077"	"CLN6"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2077"	"CLN6"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09654b45-6649-4d11-b43e-aeb6d20fb86d-2020-12-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"09654b45-6649-4d11-b43e-aeb6d20fb86d"	"2024-04-21"
"GENCC_000102-HGNC_2079-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:2079"	"CLN8"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2079"	"CLN8"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-07 22:01:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"68775ed0-576e-4ee7-90f2-d16329ecd7c1"	"2024-04-21"
"GENCC_000102-HGNC_30664-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:30664"	"CLPB"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30664"	"CLPB"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-11-23 20:10:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_789c591d-1de7-4652-a0d1-f895b639233e-2020-11-23T201057.415Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"789c591d-1de7-4652-a0d1-f895b639233e"	"2024-04-21"
"GENCC_000102-HGNC_2084-MONDO_0013588-HP_0000007-GENCC_100001"	"HGNC:2084"	"CLPP"	"MONDO:0013588"	"Perrault syndrome 3"	"MONDO:0013588"	"Perrault syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2084"	"CLPP"	"MONDO:0013588"	"Perrault syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-03-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15291cb2-a541-4f88-91c8-0b441e3b64cb-2018-03-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"15291cb2-a541-4f88-91c8-0b441e3b64cb"	"2024-04-21"
"GENCC_000102-HGNC_12605-MONDO_0016485-HP_0000007-GENCC_100001"	"HGNC:12605"	"CLRN1"	"MONDO:0016485"	"Usher syndrome type 3"	"MONDO:0016485"	"Usher syndrome type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12605"	"CLRN1"	"MONDO:0016485"	"Usher syndrome type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-03-02 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8400"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8400"	"2024-04-21"
"GENCC_000102-HGNC_2148-MONDO_0800405-HP_0000007-GENCC_100001"	"HGNC:2148"	"CNGA1"	"MONDO:0800405"	"CNGA1-related retinopathy"	"MONDO:0800405"	"CNGA1-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2148"	"CNGA1"	"MONDO:0800405"	"CNGA1-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdf9374a-2ec6-4852-ac0b-ec1a3e638245-2022-10-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bdf9374a-2ec6-4852-ac0b-ec1a3e638245"	"2024-04-21"
"GENCC_000102-HGNC_2150-MONDO_0800102-HP_0000007-GENCC_100001"	"HGNC:2150"	"CNGA3"	"MONDO:0800102"	"CNGA3-related retinopathy"	"MONDO:0800102"	"CNGA3-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2150"	"CNGA3"	"MONDO:0800102"	"CNGA3-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39fe36b7-54c3-486b-a9f9-19bce71f096e-2022-02-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"39fe36b7-54c3-486b-a9f9-19bce71f096e"	"2024-04-21"
"GENCC_000102-HGNC_2151-MONDO_0800403-HP_0000007-GENCC_100001"	"HGNC:2151"	"CNGB1"	"MONDO:0800403"	"CNGB1-related retinopathy"	"MONDO:0800403"	"CNGB1-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2151"	"CNGB1"	"MONDO:0800403"	"CNGB1-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_664a3eaa-0139-4f5a-8f97-a4a7e00ddfd3-2022-09-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"664a3eaa-0139-4f5a-8f97-a4a7e00ddfd3"	"2024-04-21"
"GENCC_000102-HGNC_2153-MONDO_0100446-HP_0000007-GENCC_100001"	"HGNC:2153"	"CNGB3"	"MONDO:0100446"	"CNGB3-related retinopathy"	"MONDO:0100446"	"CNGB3-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2153"	"CNGB3"	"MONDO:0100446"	"CNGB3-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-24 17:13:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa7bad05-3d4d-4a69-b4e9-82f9224a77f4-2022-05-24T171317.094Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aa7bad05-3d4d-4a69-b4e9-82f9224a77f4"	"2024-04-21"
"GENCC_000102-HGNC_19701-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:19701"	"CNKSR2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:19701"	"CNKSR2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_420ee599-c745-43b9-b9a9-c80dfd7f68a8-2020-12-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"420ee599-c745-43b9-b9a9-c80dfd7f68a8"	"2024-04-21"
"GENCC_000102-HGNC_105-MONDO_0009007-HP_0000007-GENCC_100001"	"HGNC:105"	"CNNM4"	"MONDO:0009007"	"Jalili syndrome"	"MONDO:0009007"	"Jalili syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:105"	"CNNM4"	"MONDO:0009007"	"Jalili syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-06 15:48:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3cedd07-df9e-4838-8a6b-b24b2802f223-2021-08-06T154836.361Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e3cedd07-df9e-4838-8a6b-b24b2802f223"	"2024-04-21"
"GENCC_000102-HGNC_7877-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:7877"	"CNOT1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7877"	"CNOT1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-19 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0684b8e2-5552-44d3-a72e-2022e273e24f-2023-09-19T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0684b8e2-5552-44d3-a72e-2022e273e24f"	"2024-04-21"
"GENCC_000102-HGNC_7877-MONDO_0032787-HP_0000006-GENCC_100004"	"HGNC:7877"	"CNOT1"	"MONDO:0032787"	"holoprosencephaly 12 with or without pancreatic agenesis"	"MONDO:0032787"	"holoprosencephaly 12 with or without pancreatic agenesis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7877"	"CNOT1"	"MONDO:0032787"	"holoprosencephaly 12 with or without pancreatic agenesis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-09-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91d394c9-60fe-40cb-918b-9790a08873d9-2023-09-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"91d394c9-60fe-40cb-918b-9790a08873d9"	"2024-04-21"
"GENCC_000102-HGNC_7879-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:7879"	"CNOT3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7879"	"CNOT3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_585384c5-8958-4934-af26-4040774a644c-2021-08-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"585384c5-8958-4934-af26-4040774a644c"	"2024-04-21"
"GENCC_000102-HGNC_2172-MONDO_0100038-HP_0000007-GENCC_100001"	"HGNC:2172"	"CNTN2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2172"	"CNTN2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-07 08:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe53f9b9-cb21-49a2-8c24-80f63fc75f0f-2023-11-07T080000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fe53f9b9-cb21-49a2-8c24-80f63fc75f0f"	"2024-04-21"
"GENCC_000102-HGNC_2174-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:2174"	"CNTN4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2174"	"CNTN4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-14 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_716109ea-60b6-48d9-8ab7-b3883063bae0-2022-04-14T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"716109ea-60b6-48d9-8ab7-b3883063bae0"	"2024-04-21"
"GENCC_000102-HGNC_2176-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:2176"	"CNTN6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2176"	"CNTN6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-09-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bda9083a-7edc-4102-be62-e1c62d0a6bc2-2022-09-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bda9083a-7edc-4102-be62-e1c62d0a6bc2"	"2024-04-21"
"GENCC_000102-HGNC_13830-MONDO_0100038-HP_0000007-GENCC_100001"	"HGNC:13830"	"CNTNAP2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13830"	"CNTNAP2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3af732e2-062d-4bb3-a3cd-2045e460dc8f-2021-06-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3af732e2-062d-4bb3-a3cd-2045e460dc8f"	"2024-04-21"
"GENCC_000102-HGNC_13830-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:13830"	"CNTNAP2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13830"	"CNTNAP2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-03-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e91dc4be-821d-4f54-acdd-755a25070eec-2021-03-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e91dc4be-821d-4f54-acdd-755a25070eec"	"2024-04-21"
"GENCC_000102-HGNC_24990-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:24990"	"COA3"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24990"	"COA3"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-08-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83ca0cfa-10b9-4bd5-86dd-83bef18e33dc-2022-08-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"83ca0cfa-10b9-4bd5-86dd-83bef18e33dc"	"2024-04-21"
"GENCC_000102-HGNC_20492-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:20492"	"COA8"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20492"	"COA8"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b2b04f9-275d-45e9-acc6-ee86bf20c782-2023-07-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7b2b04f9-275d-45e9-acc6-ee86bf20c782"	"2024-04-21"
"GENCC_000102-HGNC_2180-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:2180"	"COCH"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2180"	"COCH"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_998da390-3e32-4b80-a733-d64d87d5357b-2018-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"998da390-3e32-4b80-a733-d64d87d5357b"	"2024-04-21"
"GENCC_000102-HGNC_6545-MONDO_0012637-HP_0000007-GENCC_100003"	"HGNC:6545"	"COG1"	"MONDO:0012637"	"COG1-congenital disorder of glycosylation"	"MONDO:0012637"	"COG1-congenital disorder of glycosylation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6545"	"COG1"	"MONDO:0012637"	"COG1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-01-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6607c8c3-e293-49df-904d-da27aa8e0232-2024-01-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6607c8c3-e293-49df-904d-da27aa8e0232"	"2024-04-21"
"GENCC_000102-HGNC_6546-MONDO_0054559-HP_0000007-GENCC_100004"	"HGNC:6546"	"COG2"	"MONDO:0054559"	"congenital disorder of glycosylation, type IIq"	"MONDO:0054559"	"congenital disorder of glycosylation, type IIq"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6546"	"COG2"	"MONDO:0054559"	"congenital disorder of glycosylation, type IIq"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67d145eb-648f-4e00-b53f-9447d650cc3e-2024-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"67d145eb-648f-4e00-b53f-9447d650cc3e"	"2024-04-21"
"GENCC_000102-HGNC_18620-MONDO_0013281-HP_0000007-GENCC_100003"	"HGNC:18620"	"COG4"	"MONDO:0013281"	"COG4-congenital disorder of glycosylation"	"MONDO:0013281"	"COG4-congenital disorder of glycosylation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18620"	"COG4"	"MONDO:0013281"	"COG4-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-05-17 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c9f2031-7487-45a5-abbe-ca2d27f1b09c-2023-05-17T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6c9f2031-7487-45a5-abbe-ca2d27f1b09c"	"2024-04-21"
"GENCC_000102-HGNC_2187-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:2187"	"COL11A2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2187"	"COL11A2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0665772a-ba94-4561-b597-364f7db7e4ca-2023-11-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0665772a-ba94-4561-b597-364f7db7e4ca"	"2024-04-21"
"GENCC_000102-HGNC_2187-MONDO_0008975-HP_0000006-GENCC_100001"	"HGNC:2187"	"COL11A2"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2187"	"COL11A2"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_177bddd8-0566-4f80-a9f1-679ca96a7c60-2018-12-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"177bddd8-0566-4f80-a9f1-679ca96a7c60"	"2024-04-21"
"GENCC_000102-HGNC_2187-MONDO_0008975-HP_0000007-GENCC_100001"	"HGNC:2187"	"COL11A2"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2187"	"COL11A2"	"MONDO:0008975"	"otospondylomegaepiphyseal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27b13a91-0a04-4393-bf1c-4f8418154c9b-2018-12-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"27b13a91-0a04-4393-bf1c-4f8418154c9b"	"2024-04-21"
"GENCC_000102-HGNC_2187-MONDO_0019497-HP_0000007-GENCC_100003"	"HGNC:2187"	"COL11A2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2187"	"COL11A2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-11-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_561327b9-7c55-40c3-b83c-5a3ed9d75606-2023-11-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"561327b9-7c55-40c3-b83c-5a3ed9d75606"	"2024-04-21"
"GENCC_000102-HGNC_2195-MONDO_0800167-HP_0000007-GENCC_100001"	"HGNC:2195"	"COL18A1"	"MONDO:0800167"	"Knobloch syndrome 1"	"MONDO:0800167"	"Knobloch syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2195"	"COL18A1"	"MONDO:0800167"	"Knobloch syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-28 10:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae24ab5e-a4a9-45eb-a52d-18e6dfebae53-2023-02-28T100000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ae24ab5e-a4a9-45eb-a52d-18e6dfebae53"	"2024-04-21"
"GENCC_000102-HGNC_2197-MONDO_0008147-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2197"	"COL1A1"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-22 21:11:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b093295-1c7c-4526-90eb-d6a9fff1cc75-2021-03-22T211103.977Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0b093295-1c7c-4526-90eb-d6a9fff1cc75"	"2024-04-21"
"GENCC_000102-HGNC_2197-MONDO_0007244-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0007244"	"Caffey disease"	"MONDO:0007244"	"Caffey disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2197"	"COL1A1"	"MONDO:0007244"	"Caffey disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21b43a7b-79d4-4adf-b1a4-cd26e21ba8fa-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"21b43a7b-79d4-4adf-b1a4-cd26e21ba8fa"	"2024-04-21"
"GENCC_000102-HGNC_2197-MONDO_0019567-HP_0000006-GENCC_100003"	"HGNC:2197"	"COL1A1"	"MONDO:0019567"	"Ehlers-Danlos syndrome, classic type, 1"	"MONDO:0019567"	"Ehlers-Danlos syndrome, classic type, 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2197"	"COL1A1"	"MONDO:0019567"	"Ehlers-Danlos syndrome, classic type, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35866dc4-e7a2-42c8-801c-019214666e8f-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"35866dc4-e7a2-42c8-801c-019214666e8f"	"2024-04-21"
"GENCC_000102-HGNC_2197-MONDO_0008146-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2197"	"COL1A1"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-16 23:51:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74914fec-a5c4-437c-8c83-66c9f1df3e6e-2021-03-16T235154.009Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"74914fec-a5c4-437c-8c83-66c9f1df3e6e"	"2024-04-21"
"GENCC_000102-HGNC_2197-MONDO_0009804-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2197"	"COL1A1"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-24 20:46:05"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a51b8f9f-0e11-4d82-b454-15d27e974dd7-2021-06-24T204605.941Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a51b8f9f-0e11-4d82-b454-15d27e974dd7"	"2024-04-21"
"GENCC_000102-HGNC_2197-MONDO_0030854-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0030854"	"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1"	"MONDO:0030854"	"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2197"	"COL1A1"	"MONDO:0030854"	"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac0eb1d7-5309-48a0-acd8-53de284f4e4b-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac0eb1d7-5309-48a0-acd8-53de284f4e4b"	"2024-04-21"
"GENCC_000102-HGNC_2197-MONDO_0008148-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2197"	"COL1A1"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce1c11be-7ead-43b5-a94d-665bf0111814-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ce1c11be-7ead-43b5-a94d-665bf0111814"	"2024-04-21"
"GENCC_000102-HGNC_2197-MONDO_0007525-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2197"	"COL1A1"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d013cb4d-bb06-4db8-8efd-b3808f8f123c-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d013cb4d-bb06-4db8-8efd-b3808f8f123c"	"2024-04-21"
"GENCC_000102-HGNC_2198-MONDO_0008148-HP_0000006-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2198"	"COL1A2"	"MONDO:0008148"	"osteogenesis imperfecta type 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_072d15dd-87c6-4c8d-aaef-44ac83086b1e-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"072d15dd-87c6-4c8d-aaef-44ac83086b1e"	"2024-04-21"
"GENCC_000102-HGNC_2198-MONDO_0008147-HP_0000006-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2198"	"COL1A2"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c78279e-c9c8-4ff7-a206-db78a30cd5d6-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3c78279e-c9c8-4ff7-a206-db78a30cd5d6"	"2024-04-21"
"GENCC_000102-HGNC_2198-MONDO_0008146-HP_0000006-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2198"	"COL1A2"	"MONDO:0008146"	"osteogenesis imperfecta type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_457065a1-4ed1-4d23-aa54-26fffa6f2853-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"457065a1-4ed1-4d23-aa54-26fffa6f2853"	"2024-04-21"
"GENCC_000102-HGNC_2198-MONDO_0009804-HP_0000006-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2198"	"COL1A2"	"MONDO:0009804"	"osteogenesis imperfecta type 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55bdf3bb-05f8-49e8-bc3a-d1c66cbbdeca-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"55bdf3bb-05f8-49e8-bc3a-d1c66cbbdeca"	"2024-04-21"
"GENCC_000102-HGNC_2198-MONDO_0007525-HP_0000006-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2198"	"COL1A2"	"MONDO:0007525"	"Ehlers-Danlos syndrome, arthrochalasia type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56bf7de2-93b8-4a67-9b62-bde3fbd86964-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"56bf7de2-93b8-4a67-9b62-bde3fbd86964"	"2024-04-21"
"GENCC_000102-HGNC_2198-MONDO_0009159-HP_0000007-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0009159"	"Ehlers-Danlos syndrome, cardiac valvular type"	"MONDO:0009159"	"Ehlers-Danlos syndrome, cardiac valvular type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2198"	"COL1A2"	"MONDO:0009159"	"Ehlers-Danlos syndrome, cardiac valvular type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66dcf444-5302-400f-aa44-1e12629af095-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"66dcf444-5302-400f-aa44-1e12629af095"	"2024-04-21"
"GENCC_000102-HGNC_2198-MONDO_0030855-HP_0000006-GENCC_100003"	"HGNC:2198"	"COL1A2"	"MONDO:0030855"	"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"	"MONDO:0030855"	"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2198"	"COL1A2"	"MONDO:0030855"	"combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8dc6fb4-069c-456d-88c0-e7837c819d9d-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e8dc6fb4-069c-456d-88c0-e7837c819d9d"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0014701-HP_0000006-GENCC_100003"	"HGNC:2200"	"COL2A1"	"MONDO:0014701"	"spondyloepiphyseal dysplasia, Stanescu type"	"MONDO:0014701"	"spondyloepiphyseal dysplasia, Stanescu type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0014701"	"spondyloepiphyseal dysplasia, Stanescu type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2016-12-01 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4843"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4843"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0008471-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0008471"	"spondyloepiphyseal dysplasia congenita"	"MONDO:0008471"	"spondyloepiphyseal dysplasia congenita"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0008471"	"spondyloepiphyseal dysplasia congenita"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f217fba-a78c-4f9f-ad2a-301f0d53f046-2021-06-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0f217fba-a78c-4f9f-ad2a-301f0d53f046"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0008702-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0008702"	"achondrogenesis type II"	"MONDO:0008702"	"achondrogenesis type II"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0008702"	"achondrogenesis type II"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14640c06-c66e-4dc7-86ea-9b0850e51474-2020-10-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14640c06-c66e-4dc7-86ea-9b0850e51474"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0007987-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0007987"	"Kniest dysplasia"	"MONDO:0007987"	"Kniest dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0007987"	"Kniest dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-15 18:35:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25a49ec9-69ab-4e51-a13a-fe1eaa50ae56-2021-12-15T183542.376Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"25a49ec9-69ab-4e51-a13a-fe1eaa50ae56"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0012206-HP_0000006-GENCC_100003"	"HGNC:2200"	"COL2A1"	"MONDO:0012206"	"spondyloepiphyseal dysplasia with metatarsal shortening"	"MONDO:0012206"	"spondyloepiphyseal dysplasia with metatarsal shortening"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0012206"	"spondyloepiphyseal dysplasia with metatarsal shortening"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29a041e5-bac4-4f88-9dda-ac44b00a92ca-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29a041e5-bac4-4f88-9dda-ac44b00a92ca"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0007160-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome type 1"	"MONDO:0007160"	"Stickler syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0007160"	"Stickler syndrome type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3eb9287e-d731-417e-a814-9630b47301a4-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3eb9287e-d731-417e-a814-9630b47301a4"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0007895-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0007895"	"platyspondylic dysplasia, Torrance type"	"MONDO:0007895"	"platyspondylic dysplasia, Torrance type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0007895"	"platyspondylic dysplasia, Torrance type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-01 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4c42c43-7b6a-4456-aeb1-7a00302a468b-2021-02-01T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a4c42c43-7b6a-4456-aeb1-7a00302a468b"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0010078-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0010078"	"spondyloperipheral dysplasia"	"MONDO:0010078"	"spondyloperipheral dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0010078"	"spondyloperipheral dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4da6e1f-5aad-4541-a3ae-76ed4782a023-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d4da6e1f-5aad-4541-a3ae-76ed4782a023"	"2024-04-21"
"GENCC_000102-HGNC_2200-MONDO_0016763-HP_0000006-GENCC_100001"	"HGNC:2200"	"COL2A1"	"MONDO:0016763"	"spondylometaphyseal dysplasia"	"MONDO:0016763"	"spondylometaphyseal dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2200"	"COL2A1"	"MONDO:0016763"	"spondylometaphyseal dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5315530-5b3c-42f1-b18c-1884a0b767f6-2024-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e5315530-5b3c-42f1-b18c-1884a0b767f6"	"2024-04-21"
"GENCC_000102-HGNC_2201-MONDO_0017314-HP_0000006-GENCC_100001"	"HGNC:2201"	"COL3A1"	"MONDO:0017314"	"Ehlers-Danlos syndrome, vascular type"	"MONDO:0017314"	"Ehlers-Danlos syndrome, vascular type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2201"	"COL3A1"	"MONDO:0017314"	"Ehlers-Danlos syndrome, vascular type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce795591-1c7c-4a52-886a-a294293c67c3-2019-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ce795591-1c7c-4a52-886a-a294293c67c3"	"2024-04-21"
"GENCC_000102-HGNC_2204-MONDO_0018965-HP_0032113-GENCC_100001"	"HGNC:2204"	"COL4A3"	"MONDO:0018965"	"Alport syndrome"	"MONDO:0018965"	"Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:2204"	"COL4A3"	"MONDO:0018965"	"Alport syndrome"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-26 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1ed7d3b-4366-4f4a-98f2-80e431e2d8da-2021-07-26T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e1ed7d3b-4366-4f4a-98f2-80e431e2d8da"	"2024-04-21"
"GENCC_000102-HGNC_2206-MONDO_0018965-HP_0032113-GENCC_100001"	"HGNC:2206"	"COL4A4"	"MONDO:0018965"	"Alport syndrome"	"MONDO:0018965"	"Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:2206"	"COL4A4"	"MONDO:0018965"	"Alport syndrome"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-24 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c235830a-a6f5-4cf6-b015-902da62f1b2e-2021-08-24T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c235830a-a6f5-4cf6-b015-902da62f1b2e"	"2024-04-21"
"GENCC_000102-HGNC_2207-MONDO_0018965-HP_0001417-GENCC_100001"	"HGNC:2207"	"COL4A5"	"MONDO:0018965"	"Alport syndrome"	"MONDO:0018965"	"Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2207"	"COL4A5"	"MONDO:0018965"	"Alport syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0407dc2e-1cab-4043-889d-4695b043d7b3-2019-03-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0407dc2e-1cab-4043-889d-4695b043d7b3"	"2024-04-21"
"GENCC_000102-HGNC_2208-MONDO_0010484-HP_0001417-GENCC_100004"	"HGNC:2208"	"COL4A6"	"MONDO:0010484"	"hearing loss, X-linked 6"	"MONDO:0010484"	"hearing loss, X-linked 6"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2208"	"COL4A6"	"MONDO:0010484"	"hearing loss, X-linked 6"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d026ef00-c6f3-4aa8-a61a-b354b68fe043-2022-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d026ef00-c6f3-4aa8-a61a-b354b68fe043"	"2024-04-21"
"GENCC_000102-HGNC_2209-MONDO_0007522-HP_0000006-GENCC_100001"	"HGNC:2209"	"COL5A1"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2209"	"COL5A1"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-24 15:13:31"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3133eacb-2ef9-4463-8031-11d10f0e91b9-2021-03-24T151331.225Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3133eacb-2ef9-4463-8031-11d10f0e91b9"	"2024-04-21"
"GENCC_000102-HGNC_2210-MONDO_0007522-HP_0000006-GENCC_100001"	"HGNC:2210"	"COL5A2"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2210"	"COL5A2"	"MONDO:0007522"	"Ehlers-Danlos syndrome, classic type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-24 18:42:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1901d495-d33f-4741-88fd-4b66ac43bbad-2021-03-24T184245.711Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1901d495-d33f-4741-88fd-4b66ac43bbad"	"2024-04-21"
"GENCC_000102-HGNC_2211-MONDO_0100225-HP_0000006-GENCC_100001"	"HGNC:2211"	"COL6A1"	"MONDO:0100225"	"collagen 6-related myopathy"	"MONDO:0100225"	"collagen 6-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2211"	"COL6A1"	"MONDO:0100225"	"collagen 6-related myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95ee3b63-8083-49e2-9e20-a1006ac168dd-2022-09-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"95ee3b63-8083-49e2-9e20-a1006ac168dd"	"2024-04-21"
"GENCC_000102-HGNC_2211-MONDO_0100225-HP_0000007-GENCC_100001"	"HGNC:2211"	"COL6A1"	"MONDO:0100225"	"collagen 6-related myopathy"	"MONDO:0100225"	"collagen 6-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2211"	"COL6A1"	"MONDO:0100225"	"collagen 6-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9de84294-8404-4bd0-a7c6-89a9a70eb408-2022-09-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9de84294-8404-4bd0-a7c6-89a9a70eb408"	"2024-04-21"
"GENCC_000102-HGNC_2212-MONDO_0100225-HP_0000006-GENCC_100001"	"HGNC:2212"	"COL6A2"	"MONDO:0100225"	"collagen 6-related myopathy"	"MONDO:0100225"	"collagen 6-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2212"	"COL6A2"	"MONDO:0100225"	"collagen 6-related myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7a4dad5-f179-44ac-adcb-c5e15c11a1ec-2022-06-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7a4dad5-f179-44ac-adcb-c5e15c11a1ec"	"2024-04-21"
"GENCC_000102-HGNC_2212-MONDO_0100225-HP_0000007-GENCC_100001"	"HGNC:2212"	"COL6A2"	"MONDO:0100225"	"collagen 6-related myopathy"	"MONDO:0100225"	"collagen 6-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2212"	"COL6A2"	"MONDO:0100225"	"collagen 6-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c523dbfa-e08e-4bdc-82d4-6bf43480697c-2022-06-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c523dbfa-e08e-4bdc-82d4-6bf43480697c"	"2024-04-21"
"GENCC_000102-HGNC_2213-MONDO_0100225-HP_0000006-GENCC_100001"	"HGNC:2213"	"COL6A3"	"MONDO:0100225"	"collagen 6-related myopathy"	"MONDO:0100225"	"collagen 6-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2213"	"COL6A3"	"MONDO:0100225"	"collagen 6-related myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37d30e5c-61f5-4e4a-9ee7-573a2ed704b3-2022-06-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"37d30e5c-61f5-4e4a-9ee7-573a2ed704b3"	"2024-04-21"
"GENCC_000102-HGNC_2213-MONDO_0100225-HP_0000007-GENCC_100001"	"HGNC:2213"	"COL6A3"	"MONDO:0100225"	"collagen 6-related myopathy"	"MONDO:0100225"	"collagen 6-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2213"	"COL6A3"	"MONDO:0100225"	"collagen 6-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_516ffd6c-c9ea-4d8a-8364-8ec4892ad464-2022-06-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"516ffd6c-c9ea-4d8a-8364-8ec4892ad464"	"2024-04-21"
"GENCC_000102-HGNC_2213-MONDO_0014627-HP_0000007-GENCC_100004"	"HGNC:2213"	"COL6A3"	"MONDO:0014627"	"dystonia 27"	"MONDO:0014627"	"dystonia 27"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2213"	"COL6A3"	"MONDO:0014627"	"dystonia 27"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-05-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a109763-6fff-4da9-b826-7c2544d3f878-2021-05-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8a109763-6fff-4da9-b826-7c2544d3f878"	"2024-04-21"
"GENCC_000102-HGNC_2214-MONDO_0009179-HP_0000007-GENCC_100001"	"HGNC:2214"	"COL7A1"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2214"	"COL7A1"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940fac3e-2586-4d49-a6f3-db12e865cc65-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"940fac3e-2586-4d49-a6f3-db12e865cc65"	"2024-04-21"
"GENCC_000102-HGNC_2217-MONDO_0019354-HP_0000007-GENCC_100004"	"HGNC:2217"	"COL9A1"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2217"	"COL9A1"	"MONDO:0019354"	"Stickler syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-03-26 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9807"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9807"	"2024-04-21"
"GENCC_000102-HGNC_2218-MONDO_0019354-HP_0000007-GENCC_100004"	"HGNC:2218"	"COL9A2"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2218"	"COL9A2"	"MONDO:0019354"	"Stickler syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-02-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_697ae26e-2b07-4f87-b42c-121684c89bc0-2019-02-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"697ae26e-2b07-4f87-b42c-121684c89bc0"	"2024-04-21"
"GENCC_000102-HGNC_2219-MONDO_0019354-HP_0000007-GENCC_100001"	"HGNC:2219"	"COL9A3"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2219"	"COL9A3"	"MONDO:0019354"	"Stickler syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-21 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a436c41e-0873-4e4c-b2f2-d56f75ca737a-2022-12-21T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a436c41e-0873-4e4c-b2f2-d56f75ca737a"	"2024-04-21"
"GENCC_000102-HGNC_2227-MONDO_0016648-HP_0000006-GENCC_100001"	"HGNC:2227"	"COMP"	"MONDO:0016648"	"multiple epiphyseal dysplasia"	"MONDO:0016648"	"multiple epiphyseal dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2227"	"COMP"	"MONDO:0016648"	"multiple epiphyseal dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-24 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e93c534-284e-40eb-9076-343a825d3a46-2020-03-24T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0e93c534-284e-40eb-9076-343a825d3a46"	"2024-04-21"
"GENCC_000102-HGNC_2227-MONDO_0008322-HP_0000006-GENCC_100001"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"MONDO:0008322"	"pseudoachondroplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2227"	"COMP"	"MONDO:0008322"	"pseudoachondroplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-07 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_630905e9-0f42-452b-81fa-7fad4eae08f9-2020-02-07T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"630905e9-0f42-452b-81fa-7fad4eae08f9"	"2024-04-21"
"GENCC_000102-HGNC_2236-MONDO_0800136-HP_0000007-GENCC_100004"	"HGNC:2236"	"COPG1"	"MONDO:0800136"	"non-severe combined immunodeficiency due to COPG1 deficiency"	"MONDO:0800136"	"non-severe combined immunodeficiency due to COPG1 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2236"	"COPG1"	"MONDO:0800136"	"non-severe combined immunodeficiency due to COPG1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-01-18 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d3aaced-2415-425a-b2c7-b59c7a687a2c-2024-01-18T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7d3aaced-2415-425a-b2c7-b59c7a687a2c"	"2024-04-21"
"GENCC_000102-HGNC_25223-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:25223"	"COQ2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25223"	"COQ2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b91e278-c030-40b2-b135-c558fcc49531-2023-01-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0b91e278-c030-40b2-b135-c558fcc49531"	"2024-04-21"
"GENCC_000102-HGNC_19693-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:19693"	"COQ4"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19693"	"COQ4"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d59cb98-0dd9-4707-8464-876eee053467-2023-01-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7d59cb98-0dd9-4707-8464-876eee053467"	"2024-04-21"
"GENCC_000102-HGNC_19041-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:19041"	"COQ8B"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19041"	"COQ8B"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-06 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43b1c614-38c9-4729-8661-eecc0d24a364-2023-02-06T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"43b1c614-38c9-4729-8661-eecc0d24a364"	"2024-04-21"
"GENCC_000102-HGNC_25302-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:25302"	"COQ9"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25302"	"COQ9"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-29 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5bd50af5-d882-49e1-afd5-d68f253055d7-2024-01-29T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5bd50af5-d882-49e1-afd5-d68f253055d7"	"2024-04-21"
"GENCC_000102-HGNC_25302-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:25302"	"COQ9"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25302"	"COQ9"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-09 14:06:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cebc5501-5d36-4767-98bc-edc4ddab3527-2021-04-09T140634.407Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cebc5501-5d36-4767-98bc-edc4ddab3527"	"2024-04-21"
"GENCC_000102-HGNC_2252-MONDO_0014168-HP_0000007-GENCC_100001"	"HGNC:2252"	"CORO1A"	"MONDO:0014168"	"severe combined immunodeficiency due to CORO1A deficiency"	"MONDO:0014168"	"severe combined immunodeficiency due to CORO1A deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2252"	"CORO1A"	"MONDO:0014168"	"severe combined immunodeficiency due to CORO1A deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f55fde93-1b6e-4d03-b737-ecad8aa89ecf-2022-06-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f55fde93-1b6e-4d03-b737-ecad8aa89ecf"	"2024-04-21"
"GENCC_000102-HGNC_2260-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:2260"	"COX10"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2260"	"COX10"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-04 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cb195fd-1191-45ba-83ef-cc2b18a081a7-2023-12-04T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1cb195fd-1191-45ba-83ef-cc2b18a081a7"	"2024-04-21"
"GENCC_000102-HGNC_2260-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:2260"	"COX10"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2260"	"COX10"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-05-20 18:28:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48794019-db9d-47c2-9977-4dc76a7d07b3-2019-05-20T182801.393Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"48794019-db9d-47c2-9977-4dc76a7d07b3"	"2024-04-21"
"GENCC_000102-HGNC_28216-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:28216"	"COX14"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28216"	"COX14"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-03-21 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8899dbb6-9769-4d93-83fb-e95b6775962c-2022-03-21T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8899dbb6-9769-4d93-83fb-e95b6775962c"	"2024-04-21"
"GENCC_000102-HGNC_2263-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:2263"	"COX15"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2263"	"COX15"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-04 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f825de2-a93c-4f96-b1e5-7b2843c668ee-2023-12-04T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2f825de2-a93c-4f96-b1e5-7b2843c668ee"	"2024-04-21"
"GENCC_000102-HGNC_2263-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:2263"	"COX15"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2263"	"COX15"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-05-20 18:33:21"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5c8d1e1-24d0-4b88-8c04-023197db14f3-2019-05-20T183321.284Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b5c8d1e1-24d0-4b88-8c04-023197db14f3"	"2024-04-21"
"GENCC_000102-HGNC_26970-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:26970"	"COX20"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26970"	"COX20"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2391b81d-cfd2-4862-b71b-0418794539c3-2022-02-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2391b81d-cfd2-4862-b71b-0418794539c3"	"2024-04-21"
"GENCC_000102-HGNC_2265-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:2265"	"COX4I1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2265"	"COX4I1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-09 13:58:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d56c1fe4-7711-45f4-992c-7e9586b9efc6-2021-04-09T135824.042Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d56c1fe4-7711-45f4-992c-7e9586b9efc6"	"2024-04-21"
"GENCC_000102-HGNC_2280-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:2280"	"COX6B1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2280"	"COX6B1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-21 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc374fc3-050b-4985-9f2f-a2972bb795fe-2022-03-21T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bc374fc3-050b-4985-9f2f-a2972bb795fe"	"2024-04-21"
"GENCC_000102-HGNC_2294-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:2294"	"COX8A"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2294"	"COX8A"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-09 13:55:10"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70763eb9-40f7-4f71-a64b-ab0c6ad536b0-2021-04-09T135510.592Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"70763eb9-40f7-4f71-a64b-ab0c6ad536b0"	"2024-04-21"
"GENCC_000102-HGNC_17245-MONDO_0005027-HP_0000006-GENCC_100006"	"HGNC:17245"	"CPA6"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17245"	"CPA6"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2021-07-29 13:25:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cb32379-82a8-425d-ac80-3d740e1cc10b-2021-07-29T132527.108Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1cb32379-82a8-425d-ac80-3d740e1cc10b"	"2024-04-21"
"GENCC_000102-HGNC_17245-MONDO_0005027-HP_0000007-GENCC_100005"	"HGNC:17245"	"CPA6"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17245"	"CPA6"	"MONDO:0005027"	"epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-07-29 13:59:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b3ebd58-dccb-4c73-b5e4-1ec55171f2fe-2021-07-29T135909.720Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7b3ebd58-dccb-4c73-b5e4-1ec55171f2fe"	"2024-04-21"
"GENCC_000102-HGNC_23228-MONDO_0015017-HP_0000007-GENCC_100001"	"HGNC:23228"	"CPAMD8"	"MONDO:0015017"	"anterior segment dysgenesis 8"	"MONDO:0015017"	"anterior segment dysgenesis 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23228"	"CPAMD8"	"MONDO:0015017"	"anterior segment dysgenesis 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc4d2b2a-08d6-4869-a56e-55721fd4c9dc-2022-11-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bc4d2b2a-08d6-4869-a56e-55721fd4c9dc"	"2024-04-21"
"GENCC_000102-HGNC_25801-MONDO_0013824-HP_0000007-GENCC_100001"	"HGNC:25801"	"CPLANE1"	"MONDO:0013824"	"Joubert syndrome 17"	"MONDO:0013824"	"Joubert syndrome 17"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25801"	"CPLANE1"	"MONDO:0013824"	"Joubert syndrome 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-20 11:42:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_954cdc22-7834-4876-a64e-27d56615c1ff-2022-05-20T114241.088Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"954cdc22-7834-4876-a64e-27d56615c1ff"	"2024-04-21"
"GENCC_000102-HGNC_2321-MONDO_0800180-HP_0032113-GENCC_100001"	"HGNC:2321"	"CPOX"	"MONDO:0800180"	"CPOX-related hereditary coproporphyria"	"MONDO:0800180"	"CPOX-related hereditary coproporphyria"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:2321"	"CPOX"	"MONDO:0800180"	"CPOX-related hereditary coproporphyria"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7cfd579-9ded-4e8a-b8be-c1a6e573e28b-2023-01-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f7cfd579-9ded-4e8a-b8be-c1a6e573e28b"	"2024-04-21"
"GENCC_000102-HGNC_2323-MONDO_0009376-HP_0000007-GENCC_100001"	"HGNC:2323"	"CPS1"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2323"	"CPS1"	"MONDO:0009376"	"carbamoyl phosphate synthetase I deficiency disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc4dbbe-8827-4d68-a396-8368f3801e78-2018-10-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dbc4dbbe-8827-4d68-a396-8368f3801e78"	"2024-04-21"
"GENCC_000102-HGNC_2328-MONDO_0009705-HP_0000007-GENCC_100001"	"HGNC:2328"	"CPT1A"	"MONDO:0009705"	"carnitine palmitoyl transferase 1A deficiency"	"MONDO:0009705"	"carnitine palmitoyl transferase 1A deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2328"	"CPT1A"	"MONDO:0009705"	"carnitine palmitoyl transferase 1A deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcea255c-11e4-46fd-b0f7-2de68311a75c-2018-01-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dcea255c-11e4-46fd-b0f7-2de68311a75c"	"2024-04-21"
"GENCC_000102-HGNC_2329-MONDO_0037858-HP_0000005-GENCC_100008"	"HGNC:2329"	"CPT1B"	"MONDO:0037858"	"inherited fatty acid metabolism disorder"	"MONDO:0037858"	"inherited fatty acid metabolism disorder"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:2329"	"CPT1B"	"MONDO:0037858"	"inherited fatty acid metabolism disorder"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2021-01-25 19:49:46"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfcd80c7-d806-41cf-8c3a-7ba955919537-2021-01-25T194946.827Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cfcd80c7-d806-41cf-8c3a-7ba955919537"	"2024-04-21"
"GENCC_000102-HGNC_18540-MONDO_0019064-HP_0000006-GENCC_100004"	"HGNC:18540"	"CPT1C"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18540"	"CPT1C"	"MONDO:0019064"	"hereditary spastic paraplegia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d171b54-3af1-442a-9c54-b959061a7b5a-2023-03-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d171b54-3af1-442a-9c54-b959061a7b5a"	"2024-04-21"
"GENCC_000102-HGNC_2330-MONDO_0015515-HP_0000007-GENCC_100001"	"HGNC:2330"	"CPT2"	"MONDO:0015515"	"carnitine palmitoyltransferase II deficiency"	"MONDO:0015515"	"carnitine palmitoyltransferase II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2330"	"CPT2"	"MONDO:0015515"	"carnitine palmitoyltransferase II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-03-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a57ea10-6ca0-4311-94f1-0ad036a38ca6-2018-03-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1a57ea10-6ca0-4311-94f1-0ad036a38ca6"	"2024-04-21"
"GENCC_000102-HGNC_2336-MONDO_0013862-HP_0000007-GENCC_100001"	"HGNC:2336"	"CR2"	"MONDO:0013862"	"immunodeficiency, common variable, 7"	"MONDO:0013862"	"immunodeficiency, common variable, 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2336"	"CR2"	"MONDO:0013862"	"immunodeficiency, common variable, 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-03 13:00:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9153b41e-f2ef-453d-883b-187565cf4593-2021-08-03T130056.511Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9153b41e-f2ef-453d-883b-187565cf4593"	"2024-04-21"
"GENCC_000102-HGNC_2340-MONDO_0000508-HP_0000007-GENCC_100001"	"HGNC:2340"	"CRADD"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2340"	"CRADD"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-16 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f64ee7f-13a7-4a2d-b1a2-ad6c9e63cab3-2021-06-16T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f64ee7f-13a7-4a2d-b1a2-ad6c9e63cab3"	"2024-04-21"
"GENCC_000102-HGNC_18688-MONDO_0014539-HP_0000007-GENCC_100001"	"HGNC:18688"	"CRB2"	"MONDO:0014539"	"focal segmental glomerulosclerosis 9"	"MONDO:0014539"	"focal segmental glomerulosclerosis 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18688"	"CRB2"	"MONDO:0014539"	"focal segmental glomerulosclerosis 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-26 01:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98f54e8c-a81c-4b3b-8dbb-05dd24c5dbcc-2021-10-26T013000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"98f54e8c-a81c-4b3b-8dbb-05dd24c5dbcc"	"2024-04-21"
"GENCC_000102-HGNC_30185-MONDO_0001071-HP_0000007-GENCC_100003"	"HGNC:30185"	"CRBN"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30185"	"CRBN"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-05-21 13:50:46"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_158c9b6b-2ac8-4ee3-bd89-a57d567e675f-2021-05-21T135046.004Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"158c9b6b-2ac8-4ee3-bd89-a57d567e675f"	"2024-04-21"
"GENCC_000102-HGNC_2348-MONDO_0019188-HP_0000006-GENCC_100001"	"HGNC:2348"	"CREBBP"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2348"	"CREBBP"	"MONDO:0019188"	"Rubinstein-Taybi syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d16df64b-26ed-4f1c-b8dc-f27be773b102-2018-04-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d16df64b-26ed-4f1c-b8dc-f27be773b102"	"2024-04-21"
"GENCC_000102-HGNC_14630-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:14630"	"CRELD1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14630"	"CRELD1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-09-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aa67af6-c8df-4151-98ab-049b69fefd08-2023-09-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1aa67af6-c8df-4151-98ab-049b69fefd08"	"2024-04-21"
"GENCC_000102-HGNC_2355-MONDO_0005027-HP_0000006-GENCC_100006"	"HGNC:2355"	"CRH"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2355"	"CRH"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2021-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1719f97-0d6c-4ed3-93bc-13cc8e1f1d6e-2021-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e1719f97-0d6c-4ed3-93bc-13cc8e1f1d6e"	"2024-04-21"
"GENCC_000102-HGNC_2363-MONDO_0005453-HP_0000005-GENCC_100008"	"HGNC:2363"	"CRKL"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:2363"	"CRKL"	"MONDO:0005453"	"congenital heart disease"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2023-10-17 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_453641ec-805e-4712-841d-a228b48f5cc4-2023-10-17T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"453641ec-805e-4712-841d-a228b48f5cc4"	"2024-04-21"
"GENCC_000102-HGNC_37276-MONDO_0100530-HP_0000007-GENCC_100001"	"HGNC:37276"	"CRPPA"	"MONDO:0100530"	"myopathy caused by variation in CRPPA"	"MONDO:0100530"	"myopathy caused by variation in CRPPA"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:37276"	"CRPPA"	"MONDO:0100530"	"myopathy caused by variation in CRPPA"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d774637-2d63-48fc-b670-da4d9e57377c-2023-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6d774637-2d63-48fc-b670-da4d9e57377c"	"2024-04-21"
"GENCC_000102-HGNC_2418-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:2418"	"CRYM"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2418"	"CRYM"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d15cf48a-3696-467a-b3c8-a45ef5a577bf-2021-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d15cf48a-3696-467a-b3c8-a45ef5a577bf"	"2024-04-21"
"GENCC_000102-HGNC_29905-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:29905"	"CSDE1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29905"	"CSDE1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-21 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7061e9de-d429-4d92-a8fa-e386016ab9db-2023-11-21T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7061e9de-d429-4d92-a8fa-e386016ab9db"	"2024-04-21"
"GENCC_000102-HGNC_2457-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:2457"	"CSNK2A1"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2457"	"CSNK2A1"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-15 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_007e16ed-7392-4050-88b1-2b2158ca2a28-2022-06-15T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"007e16ed-7392-4050-88b1-2b2158ca2a28"	"2024-04-21"
"GENCC_000102-HGNC_2460-MONDO_0032889-HP_0000006-GENCC_100001"	"HGNC:2460"	"CSNK2B"	"MONDO:0032889"	"Poirier-Bienvenu neurodevelopmental syndrome"	"MONDO:0032889"	"Poirier-Bienvenu neurodevelopmental syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2460"	"CSNK2B"	"MONDO:0032889"	"Poirier-Bienvenu neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-08 05:09:21"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64552de0-3f81-4110-90f7-97de14b0387b-2022-04-08T050921.681Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"64552de0-3f81-4110-90f7-97de14b0387b"	"2024-04-21"
"GENCC_000102-HGNC_26193-MONDO_0014288-HP_0000007-GENCC_100001"	"HGNC:26193"	"CSPP1"	"MONDO:0014288"	"Joubert syndrome 21"	"MONDO:0014288"	"Joubert syndrome 21"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26193"	"CSPP1"	"MONDO:0014288"	"Joubert syndrome 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e24d1591-91b7-4c2f-bd79-d4dc8be0974d-2021-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e24d1591-91b7-4c2f-bd79-d4dc8be0974d"	"2024-04-21"
"GENCC_000102-HGNC_2472-MONDO_0005045-HP_0032113-GENCC_100001"	"HGNC:2472"	"CSRP3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:2472"	"CSRP3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_012b9b15-798a-46e2-8164-61a829ceeda1-2023-08-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"012b9b15-798a-46e2-8164-61a829ceeda1"	"2024-04-21"
"GENCC_000102-HGNC_2472-MONDO_0005045-HP_0000006-GENCC_100003"	"HGNC:2472"	"CSRP3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2472"	"CSRP3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2017-12-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_130d778f-f756-4f3d-b6b2-909e40836c5a-2017-12-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"130d778f-f756-4f3d-b6b2-909e40836c5a"	"2024-04-21"
"GENCC_000102-HGNC_2472-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:2472"	"CSRP3"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2472"	"CSRP3"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-11-06 16:52:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beaafc90-20ef-4c81-ad8f-cfcf69d269ca-2020-11-06T165245.603Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"beaafc90-20ef-4c81-ad8f-cfcf69d269ca"	"2024-04-21"
"GENCC_000102-HGNC_2482-MONDO_0009698-HP_0000007-GENCC_100001"	"HGNC:2482"	"CSTB"	"MONDO:0009698"	"Unverricht-Lundborg syndrome"	"MONDO:0009698"	"Unverricht-Lundborg syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2482"	"CSTB"	"MONDO:0009698"	"Unverricht-Lundborg syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2926506c-5b75-4340-b821-e3ac846b6621-2020-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2926506c-5b75-4340-b821-e3ac846b6621"	"2024-04-21"
"GENCC_000102-HGNC_2482-MONDO_0100062-HP_0000007-GENCC_100003"	"HGNC:2482"	"CSTB"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2482"	"CSTB"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-12-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_accafcd4-ba3c-4049-9285-1de877d256ec-2020-12-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"accafcd4-ba3c-4049-9285-1de877d256ec"	"2024-04-21"
"GENCC_000102-HGNC_13723-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:13723"	"CTCF"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13723"	"CTCF"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1cbcd7b-83e2-47c1-b708-c9052502e639-2021-07-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1cbcd7b-83e2-47c1-b708-c9052502e639"	"2024-04-21"
"GENCC_000102-HGNC_2499-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:2499"	"CTF1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2499"	"CTF1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-12 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef19cc13-543b-451e-b278-ec1fc04f694c-2020-08-12T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ef19cc13-543b-451e-b278-ec1fc04f694c"	"2024-04-21"
"GENCC_000102-HGNC_2501-MONDO_0009058-HP_0000007-GENCC_100001"	"HGNC:2501"	"CTH"	"MONDO:0009058"	"cystathioninuria"	"MONDO:0009058"	"cystathioninuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2501"	"CTH"	"MONDO:0009058"	"cystathioninuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f5047f7-80ba-4b8f-8009-59d7130e63be-2019-06-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2f5047f7-80ba-4b8f-8009-59d7130e63be"	"2024-04-21"
"GENCC_000102-HGNC_2505-MONDO_0014493-HP_0000006-GENCC_100001"	"HGNC:2505"	"CTLA4"	"MONDO:0014493"	"autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency"	"MONDO:0014493"	"autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2505"	"CTLA4"	"MONDO:0014493"	"autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-28 16:37:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e79675bd-3eef-4925-b4ef-3b7c48734f30-2021-04-28T163716.269Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e79675bd-3eef-4925-b4ef-3b7c48734f30"	"2024-04-21"
"GENCC_000102-HGNC_2509-MONDO_0018630-HP_0000006-GENCC_100008"	"HGNC:2509"	"CTNNA1"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2509"	"CTNNA1"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-04-24 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9868"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9868"	"2024-04-21"
"GENCC_000102-HGNC_2509-MONDO_0100256-HP_0000006-GENCC_100001"	"HGNC:2509"	"CTNNA1"	"MONDO:0100256"	"CTNNA1-related diffuse gastric and lobular breast cancer syndrome"	"MONDO:0100256"	"CTNNA1-related diffuse gastric and lobular breast cancer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2509"	"CTNNA1"	"MONDO:0100256"	"CTNNA1-related diffuse gastric and lobular breast cancer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9de9839-f329-4814-94af-bcce2f5d1be4-2023-07-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a9de9839-f329-4814-94af-bcce2f5d1be4"	"2024-04-21"
"GENCC_000102-HGNC_2511-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:2511"	"CTNNA3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2511"	"CTNNA3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-08-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f1dd946-f2bb-496f-8fea-3dea303e2e76-2019-08-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0f1dd946-f2bb-496f-8fea-3dea303e2e76"	"2024-04-21"
"GENCC_000102-HGNC_2511-MONDO_0005453-HP_0000005-GENCC_100005"	"HGNC:2511"	"CTNNA3"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:2511"	"CTNNA3"	"MONDO:0005453"	"congenital heart disease"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-10-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d30ce558-9009-45d3-9eb3-9b5c7594d1b8-2023-10-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d30ce558-9009-45d3-9eb3-9b5c7594d1b8"	"2024-04-21"
"GENCC_000102-HGNC_2514-MONDO_0014035-HP_0000006-GENCC_100001"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2514"	"CTNNB1"	"MONDO:0014035"	"severe intellectual disability-progressive spastic diplegia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e119aceb-a011-4811-9abd-6731c5b3d15d-2021-02-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e119aceb-a011-4811-9abd-6731c5b3d15d"	"2024-04-21"
"GENCC_000102-HGNC_15879-MONDO_0015517-HP_0000007-GENCC_100004"	"HGNC:15879"	"CTNNBL1"	"MONDO:0015517"	"common variable immunodeficiency"	"MONDO:0015517"	"common variable immunodeficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15879"	"CTNNBL1"	"MONDO:0015517"	"common variable immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-05-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e151724-c8a5-4f3e-a7ac-bd0b1d180fae-2022-05-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4e151724-c8a5-4f3e-a7ac-bd0b1d180fae"	"2024-04-21"
"GENCC_000102-HGNC_2515-MONDO_0040503-HP_0000006-GENCC_100001"	"HGNC:2515"	"CTNND1"	"MONDO:0040503"	"blepharocheilodontic syndrome 2"	"MONDO:0040503"	"blepharocheilodontic syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2515"	"CTNND1"	"MONDO:0040503"	"blepharocheilodontic syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5000144a-71c1-4ae7-95a9-17ad67a388c5-2024-03-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5000144a-71c1-4ae7-95a9-17ad67a388c5"	"2024-04-21"
"GENCC_000102-HGNC_9251-MONDO_0009737-HP_0000007-GENCC_100001"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"galactosialidosis"	"MONDO:0009737"	"galactosialidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9251"	"CTSA"	"MONDO:0009737"	"galactosialidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b46b7e30-216e-4f8a-a4b9-67d59b9ca655-2022-09-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b46b7e30-216e-4f8a-a4b9-67d59b9ca655"	"2024-04-21"
"GENCC_000102-HGNC_2529-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:2529"	"CTSD"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2529"	"CTSD"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-03 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74b1b2a-52a3-4192-b5b4-e4fd46ffc0ba-2020-11-03T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d74b1b2a-52a3-4192-b5b4-e4fd46ffc0ba"	"2024-04-21"
"GENCC_000102-HGNC_2531-MONDO_0019260-HP_0000007-GENCC_100001"	"HGNC:2531"	"CTSF"	"MONDO:0019260"	"adult neuronal ceroid lipofuscinosis"	"MONDO:0019260"	"adult neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2531"	"CTSF"	"MONDO:0019260"	"adult neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-21 14:21:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9079835-78f4-4759-a43a-9786270dc02e-2022-04-21T142141.505Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a9079835-78f4-4759-a43a-9786270dc02e"	"2024-04-21"
"GENCC_000102-HGNC_2536-MONDO_0009940-HP_0000007-GENCC_100001"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"MONDO:0009940"	"pycnodysostosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2536"	"CTSK"	"MONDO:0009940"	"pycnodysostosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-11 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8135617e-f334-4c22-aa9e-b1efd50e9326-2022-11-11T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8135617e-f334-4c22-aa9e-b1efd50e9326"	"2024-04-21"
"GENCC_000102-HGNC_2553-MONDO_0013782-HP_0000006-GENCC_100001"	"HGNC:2553"	"CUL3"	"MONDO:0013782"	"pseudohypoaldosteronism type 2E"	"MONDO:0013782"	"pseudohypoaldosteronism type 2E"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2553"	"CUL3"	"MONDO:0013782"	"pseudohypoaldosteronism type 2E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-01 01:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f697fb5e-72de-4116-9cad-706e2d651268-2021-12-01T013000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f697fb5e-72de-4116-9cad-706e2d651268"	"2024-04-21"
"GENCC_000102-HGNC_2553-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:2553"	"CUL3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2553"	"CUL3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-16 03:09:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb529ace-86b5-4209-9974-9c07a1c32956-2021-01-16T030942.670Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fb529ace-86b5-4209-9974-9c07a1c32956"	"2024-04-21"
"GENCC_000102-HGNC_2555-MONDO_0010306-HP_0001417-GENCC_100001"	"HGNC:2555"	"CUL4B"	"MONDO:0010306"	"X-linked intellectual disability, Cabezas type"	"MONDO:0010306"	"X-linked intellectual disability, Cabezas type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2555"	"CUL4B"	"MONDO:0010306"	"X-linked intellectual disability, Cabezas type"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-21 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc93f3b2-3124-40f8-a86e-c929b09c6f68-2018-02-21T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cc93f3b2-3124-40f8-a86e-c929b09c6f68"	"2024-04-21"
"GENCC_000102-HGNC_19347-MONDO_0100062-HP_0000006-GENCC_100003"	"HGNC:19347"	"CUX2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19347"	"CUX2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-05-16 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cf65346-db93-42cd-8911-0386bd314a79-2023-05-16T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5cf65346-db93-42cd-8911-0386bd314a79"	"2024-04-21"
"GENCC_000102-HGNC_2561-MONDO_0023880-HP_0000006-GENCC_100001"	"HGNC:2561"	"CXCR4"	"MONDO:0023880"	"WHIM syndrome"	"MONDO:0023880"	"WHIM syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2561"	"CXCR4"	"MONDO:0023880"	"WHIM syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89723de3-8fd8-4e2c-8609-bcd924e2f349-2023-01-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"89723de3-8fd8-4e2c-8609-bcd924e2f349"	"2024-04-21"
"GENCC_000102-HGNC_2579-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:2579"	"CYC1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2579"	"CYC1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d620451-2b96-409b-a109-ceb035e1e68e-2022-03-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0d620451-2b96-409b-a109-ceb035e1e68e"	"2024-04-21"
"GENCC_000102-HGNC_19986-MONDO_0012775-HP_0000006-GENCC_100004"	"HGNC:19986"	"CYCS"	"MONDO:0012775"	"thrombocytopenia 4"	"MONDO:0012775"	"thrombocytopenia 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19986"	"CYCS"	"MONDO:0012775"	"thrombocytopenia 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-23 17:03:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_772f2ad2-5d8c-41f6-95c4-39063daf77be-2021-06-23T170356.081Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"772f2ad2-5d8c-41f6-95c4-39063daf77be"	"2024-04-21"
"GENCC_000102-HGNC_2584-MONDO_0011512-HP_0000006-GENCC_100001"	"HGNC:2584"	"CYLD"	"MONDO:0011512"	"Brooke-Spiegler syndrome"	"MONDO:0011512"	"Brooke-Spiegler syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2584"	"CYLD"	"MONDO:0011512"	"Brooke-Spiegler syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_434ddb72-ee88-47af-9fa2-8dee9fa0a388-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"434ddb72-ee88-47af-9fa2-8dee9fa0a388"	"2024-04-21"
"GENCC_000102-HGNC_2584-MONDO_0030872-HP_0000006-GENCC_100004"	"HGNC:2584"	"CYLD"	"MONDO:0030872"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 8"	"MONDO:0030872"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2584"	"CYLD"	"MONDO:0030872"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e9998d4-d6e3-4bdc-8de6-038928edbb60-2023-02-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6e9998d4-d6e3-4bdc-8de6-038928edbb60"	"2024-04-21"
"GENCC_000102-HGNC_2592-MONDO_0011754-HP_0000007-GENCC_100001"	"HGNC:2592"	"CYP11B2"	"MONDO:0011754"	"familial hyperreninemic hypoaldosteronism type 2"	"MONDO:0011754"	"familial hyperreninemic hypoaldosteronism type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2592"	"CYP11B2"	"MONDO:0011754"	"familial hyperreninemic hypoaldosteronism type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-16 01:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a81c6c87-34bc-4ec4-8c31-91d2c9be4095-2023-11-16T013000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a81c6c87-34bc-4ec4-8c31-91d2c9be4095"	"2024-04-21"
"GENCC_000102-HGNC_2597-MONDO_0800472-HP_0000007-GENCC_100001"	"HGNC:2597"	"CYP1B1"	"MONDO:0800472"	"CYP1B1-related glaucoma with or without anterior segment dysgenesis"	"MONDO:0800472"	"CYP1B1-related glaucoma with or without anterior segment dysgenesis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2597"	"CYP1B1"	"MONDO:0800472"	"CYP1B1-related glaucoma with or without anterior segment dysgenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_107502fc-115b-4ee0-ba83-7081a17d1ebc-2023-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"107502fc-115b-4ee0-ba83-7081a17d1ebc"	"2024-04-21"
"GENCC_000102-HGNC_20582-MONDO_0019064-HP_0000007-GENCC_100001"	"HGNC:20582"	"CYP2U1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20582"	"CYP2U1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-16 02:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2d550d2-5653-45dc-a8a3-2dccf4bb49f6-2023-01-16T020000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e2d550d2-5653-45dc-a8a3-2dccf4bb49f6"	"2024-04-21"
"GENCC_000102-HGNC_23198-MONDO_0008865-HP_0000007-GENCC_100001"	"HGNC:23198"	"CYP4V2"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23198"	"CYP4V2"	"MONDO:0008865"	"Bietti crystalline corneoretinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da577a4b-5c65-43fa-9a03-b275eaacb6eb-2021-04-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"da577a4b-5c65-43fa-9a03-b275eaacb6eb"	"2024-04-21"
"GENCC_000102-HGNC_18525-MONDO_0020642-HP_0000007-GENCC_100003"	"HGNC:18525"	"CYS1"	"MONDO:0020642"	"polycystic kidney disease"	"MONDO:0020642"	"polycystic kidney disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18525"	"CYS1"	"MONDO:0020642"	"polycystic kidney disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-04-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b3fd5b2-e89e-409a-9802-35cf6ac26913-2022-04-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b3fd5b2-e89e-409a-9802-35cf6ac26913"	"2024-04-21"
"GENCC_000102-HGNC_2671-MONDO_0004976-HP_0000006-GENCC_100006"	"HGNC:2671"	"DAO"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2671"	"DAO"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2022-04-12 10:38:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35ac00ac-3279-4c7e-89b6-8a75e3cae414-2022-04-12T103808.867Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"35ac00ac-3279-4c7e-89b6-8a75e3cae414"	"2024-04-21"
"GENCC_000102-HGNC_25538-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:25538"	"DARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25538"	"DARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3fc3cd8-48aa-4e02-8324-b3412fcfa64f-2022-05-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c3fc3cd8-48aa-4e02-8324-b3412fcfa64f"	"2024-04-21"
"GENCC_000102-HGNC_2698-MONDO_0009563-HP_0000007-GENCC_100001"	"HGNC:2698"	"DBT"	"MONDO:0009563"	"maple syrup urine disease"	"MONDO:0009563"	"maple syrup urine disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2698"	"DBT"	"MONDO:0009563"	"maple syrup urine disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfd1ebde-e447-4877-977e-f5b9fe434adc-2018-10-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cfd1ebde-e447-4877-977e-f5b9fe434adc"	"2024-04-21"
"GENCC_000102-HGNC_25784-MONDO_0009419-HP_0000007-GENCC_100001"	"HGNC:25784"	"DCAF17"	"MONDO:0009419"	"Woodhouse-Sakati syndrome"	"MONDO:0009419"	"Woodhouse-Sakati syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25784"	"DCAF17"	"MONDO:0009419"	"Woodhouse-Sakati syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 15:35:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a1d7719-4261-494d-87aa-745518580673-2021-07-27T153526.827Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6a1d7719-4261-494d-87aa-745518580673"	"2024-04-21"
"GENCC_000102-HGNC_2701-MONDO_0100515-HP_0000006-GENCC_100001"	"HGNC:2701"	"DCC"	"MONDO:0100515"	"mirror movements 1 and/or agenesis of the corpus callosum"	"MONDO:0100515"	"mirror movements 1 and/or agenesis of the corpus callosum"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2701"	"DCC"	"MONDO:0100515"	"mirror movements 1 and/or agenesis of the corpus callosum"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f923f025-a973-4af8-b2c2-00dc39ed3026-2022-07-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f923f025-a973-4af8-b2c2-00dc39ed3026"	"2024-04-21"
"GENCC_000102-HGNC_18141-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:18141"	"DCDC2"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18141"	"DCDC2"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_477c8aba-eeba-43dc-a5e2-f6f84b127b8f-2021-10-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"477c8aba-eeba-43dc-a5e2-f6f84b127b8f"	"2024-04-21"
"GENCC_000102-HGNC_18141-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:18141"	"DCDC2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18141"	"DCDC2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-31 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86802e37-e2a5-43b9-8538-e104859b4c55-2020-08-31T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"86802e37-e2a5-43b9-8538-e104859b4c55"	"2024-04-21"
"GENCC_000102-HGNC_17642-MONDO_0011225-HP_0000007-GENCC_100001"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011225"	"severe combined immunodeficiency due to DCLRE1C deficiency"	"MONDO:0011225"	"severe combined immunodeficiency due to DCLRE1C deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011225"	"severe combined immunodeficiency due to DCLRE1C deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-18 15:43:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_603e0855-2b57-4463-a9b7-1c5d70089a4f-2021-02-18T154301.245Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"603e0855-2b57-4463-a9b7-1c5d70089a4f"	"2024-04-21"
"GENCC_000102-HGNC_2711-MONDO_0004976-HP_0000006-GENCC_100003"	"HGNC:2711"	"DCTN1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2711"	"DCTN1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd19f2c-2499-417f-94c8-2bd4bedf34ef-2023-08-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5cd19f2c-2499-417f-94c8-2bd4bedf34ef"	"2024-04-21"
"GENCC_000102-HGNC_2714-MONDO_0018838-HP_0001417-GENCC_100001"	"HGNC:2714"	"DCX"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2714"	"DCX"	"MONDO:0018838"	"lissencephaly spectrum disorders"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-23 15:09:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b0d23d1-5ca6-4584-9d74-cf78ca21b0e1-2021-02-23T150911.296Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3b0d23d1-5ca6-4584-9d74-cf78ca21b0e1"	"2024-04-21"
"GENCC_000102-HGNC_2718-MONDO_0010213-HP_0000007-GENCC_100001"	"HGNC:2718"	"DDB2"	"MONDO:0010213"	"xeroderma pigmentosum group E"	"MONDO:0010213"	"xeroderma pigmentosum group E"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2718"	"DDB2"	"MONDO:0010213"	"xeroderma pigmentosum group E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf2a4254-51ec-467a-9194-3962d39a6b20-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cf2a4254-51ec-467a-9194-3962d39a6b20"	"2024-04-21"
"GENCC_000102-HGNC_2719-MONDO_0012084-HP_0000007-GENCC_100001"	"HGNC:2719"	"DDC"	"MONDO:0012084"	"aromatic L-amino acid decarboxylase deficiency"	"MONDO:0012084"	"aromatic L-amino acid decarboxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2719"	"DDC"	"MONDO:0012084"	"aromatic L-amino acid decarboxylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1dea33e3-7cf6-47f9-aa52-2525b439031a-2022-02-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1dea33e3-7cf6-47f9-aa52-2525b439031a"	"2024-04-21"
"GENCC_000102-HGNC_19714-MONDO_0019064-HP_0000007-GENCC_100001"	"HGNC:19714"	"DDHD1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19714"	"DDHD1"	"MONDO:0019064"	"hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-01 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ba9bbb1-e36f-41db-9e56-23496613e46d-2022-12-01T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0ba9bbb1-e36f-41db-9e56-23496613e46d"	"2024-04-21"
"GENCC_000102-HGNC_2731-MONDO_0010077-HP_0000007-GENCC_100001"	"HGNC:2731"	"DDR2"	"MONDO:0010077"	"spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	"MONDO:0010077"	"spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2731"	"DDR2"	"MONDO:0010077"	"spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac98a8f4-fedc-425d-ae43-ff4ef848b765-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac98a8f4-fedc-425d-ae43-ff4ef848b765"	"2024-04-21"
"GENCC_000102-HGNC_2731-MONDO_0032579-HP_0000006-GENCC_100003"	"HGNC:2731"	"DDR2"	"MONDO:0032579"	"warburg-cinotti syndrome"	"MONDO:0032579"	"warburg-cinotti syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2731"	"DDR2"	"MONDO:0032579"	"warburg-cinotti syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6fc9f08-7935-48c2-a40e-bf93af5c5e1f-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e6fc9f08-7935-48c2-a40e-bf93af5c5e1f"	"2024-04-21"
"GENCC_000102-HGNC_2745-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:2745"	"DDX3X"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2745"	"DDX3X"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b7c89d4-ccb2-4d4e-ad11-9d6051a40b6d-2020-05-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3b7c89d4-ccb2-4d4e-ad11-9d6051a40b6d"	"2024-04-21"
"GENCC_000102-HGNC_18674-MONDO_0014809-HP_0000006-GENCC_100001"	"HGNC:18674"	"DDX41"	"MONDO:0014809"	"DDX41-related hematologic malignancy predisposition syndrome"	"MONDO:0014809"	"DDX41-related hematologic malignancy predisposition syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18674"	"DDX41"	"MONDO:0014809"	"DDX41-related hematologic malignancy predisposition syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 20:29:35"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3db8214-a39d-408d-a3c2-7b4e817b1cc1-2020-07-30T202935.621Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e3db8214-a39d-408d-a3c2-7b4e817b1cc1"	"2024-04-21"
"GENCC_000102-HGNC_2753-MONDO_0014464-HP_0000005-GENCC_100008"	"HGNC:2753"	"DECR1"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:2753"	"DECR1"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2021-01-25 19:49:21"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d25dfe8-8d0b-4b45-b04c-b315ebdceaaa-2021-01-25T194921.121Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d25dfe8-8d0b-4b45-b04c-b315ebdceaaa"	"2024-04-21"
"GENCC_000102-HGNC_18423-MONDO_0005384-HP_0000006-GENCC_100001"	"HGNC:18423"	"DEPDC5"	"MONDO:0005384"	"focal epilepsy"	"MONDO:0005384"	"focal epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18423"	"DEPDC5"	"MONDO:0005384"	"focal epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-08-07 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82a82c75-f9a5-4f51-a15c-6513c13df57c-2018-08-07T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82a82c75-f9a5-4f51-a15c-6513c13df57c"	"2024-04-21"
"GENCC_000102-HGNC_2770-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:2770"	"DES"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2770"	"DES"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91b2595a-5eb9-4ac3-aa3d-d5f99cacad84-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"91b2595a-5eb9-4ac3-aa3d-d5f99cacad84"	"2024-04-21"
"GENCC_000102-HGNC_2770-MONDO_0016587-HP_0000006-GENCC_100003"	"HGNC:2770"	"DES"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2770"	"DES"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2018-09-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef9a60b-a94f-4318-824e-e748c5c20ecb-2018-09-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aef9a60b-a94f-4318-824e-e748c5c20ecb"	"2024-04-21"
"GENCC_000102-HGNC_2860-MONDO_0010035-HP_0000007-GENCC_100001"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2860"	"DHCR7"	"MONDO:0010035"	"Smith-Lemli-Opitz syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5ed71c9-a76b-44c0-b5c0-44d604f2e0e9-2018-09-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d5ed71c9-a76b-44c0-b5c0-44d604f2e0e9"	"2024-04-21"
"GENCC_000102-HGNC_23537-MONDO_0008774-HP_0000007-GENCC_100001"	"HGNC:23537"	"DHTKD1"	"MONDO:0008774"	"2-aminoadipic 2-oxoadipic aciduria"	"MONDO:0008774"	"2-aminoadipic 2-oxoadipic aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23537"	"DHTKD1"	"MONDO:0008774"	"2-aminoadipic 2-oxoadipic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-03 19:38:15"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6dd5de3-9819-432d-996c-12a66dff277f-2020-11-03T193815.515Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d6dd5de3-9819-432d-996c-12a66dff277f"	"2024-04-21"
"GENCC_000102-HGNC_21528-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:21528"	"DIABLO"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21528"	"DIABLO"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5903c3b-b2d7-4c14-b196-37533187d807-2021-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f5903c3b-b2d7-4c14-b196-37533187d807"	"2024-04-21"
"GENCC_000102-HGNC_2876-MONDO_0044635-HP_0000006-GENCC_100001"	"HGNC:2876"	"DIAPH1"	"MONDO:0044635"	"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"	"MONDO:0044635"	"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2876"	"DIAPH1"	"MONDO:0044635"	"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43c017fd-ce70-4fbe-ad30-90f216adaa7d-2018-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"43c017fd-ce70-4fbe-ad30-90f216adaa7d"	"2024-04-21"
"GENCC_000102-HGNC_15480-MONDO_0021944-HP_0000006-GENCC_100004"	"HGNC:15480"	"DIAPH3"	"MONDO:0021944"	"auditory neuropathy"	"MONDO:0021944"	"auditory neuropathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15480"	"DIAPH3"	"MONDO:0021944"	"auditory neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc54aaf6-8e1b-4c98-bcbe-e1f337f6eadc-2020-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fc54aaf6-8e1b-4c98-bcbe-e1f337f6eadc"	"2024-04-21"
"GENCC_000102-HGNC_17098-MONDO_0100216-HP_0000006-GENCC_100001"	"HGNC:17098"	"DICER1"	"MONDO:0100216"	"DICER1-related tumor predisposition"	"MONDO:0100216"	"DICER1-related tumor predisposition"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17098"	"DICER1"	"MONDO:0100216"	"DICER1-related tumor predisposition"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aeabfc3b-63a9-40f2-9c71-41b079fee4e2-2023-07-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aeabfc3b-63a9-40f2-9c71-41b079fee4e2"	"2024-04-21"
"GENCC_000102-HGNC_28648-MONDO_0009965-HP_0000007-GENCC_100001"	"HGNC:28648"	"DIS3L2"	"MONDO:0009965"	"Perlman syndrome"	"MONDO:0009965"	"Perlman syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28648"	"DIS3L2"	"MONDO:0009965"	"Perlman syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-21 19:30:52"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e68b93df-e0e7-4d46-8934-8b86064c0b37-2019-11-21T193052.781Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e68b93df-e0e7-4d46-8934-8b86064c0b37"	"2024-04-21"
"GENCC_000102-HGNC_19711-MONDO_0016296-HP_0000006-GENCC_100004"	"HGNC:19711"	"DISP1"	"MONDO:0016296"	"holoprosencephaly"	"MONDO:0016296"	"holoprosencephaly"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19711"	"DISP1"	"MONDO:0016296"	"holoprosencephaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-09-27 09:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef9d5a3b-d4ec-473b-b5a2-aaa25cf9babd-2022-09-27T090000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ef9d5a3b-d4ec-473b-b5a2-aaa25cf9babd"	"2024-04-21"
"GENCC_000102-HGNC_2890-MONDO_0100152-HP_0001417-GENCC_100001"	"HGNC:2890"	"DKC1"	"MONDO:0100152"	"DKC1-related disorder"	"MONDO:0100152"	"DKC1-related disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2890"	"DKC1"	"MONDO:0100152"	"DKC1-related disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-13 15:33:38"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afd6a4ca-7a1c-42ef-a9cf-bef557128f12-2020-09-13T153338.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afd6a4ca-7a1c-42ef-a9cf-bef557128f12"	"2024-04-21"
"GENCC_000102-HGNC_2890-MONDO_0010584-HP_0001417-GENCC_100001"	"HGNC:2890"	"DKC1"	"MONDO:0010584"	"dyskeratosis congenita, X-linked"	"MONDO:0010584"	"dyskeratosis congenita, X-linked"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2890"	"DKC1"	"MONDO:0010584"	"dyskeratosis congenita, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-15 23:41:40"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb90bea1-16e7-44da-8551-91fb5fd7088a-2021-06-15T234140.163Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb90bea1-16e7-44da-8551-91fb5fd7088a"	"2024-04-21"
"GENCC_000102-HGNC_2896-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:2896"	"DLAT"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2896"	"DLAT"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-14 21:20:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78e45dbe-ea30-434d-9522-aa1731b9a764-2021-01-14T212056.234Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"78e45dbe-ea30-434d-9522-aa1731b9a764"	"2024-04-21"
"GENCC_000102-HGNC_2898-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:2898"	"DLD"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2898"	"DLD"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-11 17:12:46"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_990dd96f-16ec-4c0f-a46b-ce4a647b7a50-2021-03-11T171246.198Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"990dd96f-16ec-4c0f-a46b-ce4a647b7a50"	"2024-04-21"
"GENCC_000102-HGNC_2898-MONDO_0009529-HP_0000007-GENCC_100001"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2898"	"DLD"	"MONDO:0009529"	"pyruvate dehydrogenase E3 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9dfbbc2-cede-491e-9db0-fc5719fbc729-2019-03-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a9dfbbc2-cede-491e-9db0-fc5719fbc729"	"2024-04-21"
"GENCC_000102-HGNC_2902-MONDO_0019181-HP_0001417-GENCC_100001"	"HGNC:2902"	"DLG3"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2902"	"DLG3"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-08-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e73a08f0-ff3a-4328-9020-89102296e405-2018-08-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e73a08f0-ff3a-4328-9020-89102296e405"	"2024-04-21"
"GENCC_000102-HGNC_2903-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:2903"	"DLG4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2903"	"DLG4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-17 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe31e200-7afd-49a9-80e0-60f9236c7dab-2023-01-17T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fe31e200-7afd-49a9-80e0-60f9236c7dab"	"2024-04-21"
"GENCC_000102-HGNC_2906-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:2906"	"DLGAP2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2906"	"DLGAP2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-10-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efeafdd5-9105-470f-b332-8c7a3dd65078-2021-10-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"efeafdd5-9105-470f-b332-8c7a3dd65078"	"2024-04-21"
"GENCC_000102-HGNC_2928-MONDO_0016106-HP_0001417-GENCC_100001"	"HGNC:2928"	"DMD"	"MONDO:0016106"	"progressive muscular dystrophy"	"MONDO:0016106"	"progressive muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2928"	"DMD"	"MONDO:0016106"	"progressive muscular dystrophy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-09 18:52:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b528435f-dc16-45e0-9f0f-2da3f293ab4c-2021-04-09T185212.943Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b528435f-dc16-45e0-9f0f-2da3f293ab4c"	"2024-04-21"
"GENCC_000102-HGNC_24475-MONDO_0011610-HP_0000007-GENCC_100004"	"HGNC:24475"	"DMGDH"	"MONDO:0011610"	"dimethylglycine dehydrogenase deficiency"	"MONDO:0011610"	"dimethylglycine dehydrogenase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24475"	"DMGDH"	"MONDO:0011610"	"dimethylglycine dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b181250b-bc72-43b7-adec-5b85860b1a62-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b181250b-bc72-43b7-adec-5b85860b1a62"	"2024-04-21"
"GENCC_000102-HGNC_2938-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:2938"	"DMXL2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2938"	"DMXL2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_746b46e8-0621-4879-80a1-4fb1679975be-2020-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"746b46e8-0621-4879-80a1-4fb1679975be"	"2024-04-21"
"GENCC_000102-HGNC_30539-MONDO_0013174-HP_0000007-GENCC_100001"	"HGNC:30539"	"DNAAF1"	"MONDO:0013174"	"primary ciliary dyskinesia 13"	"MONDO:0013174"	"primary ciliary dyskinesia 13"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30539"	"DNAAF1"	"MONDO:0013174"	"primary ciliary dyskinesia 13"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41e4b8cd-35bd-4e99-ba2d-606f191a13cf-2023-03-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41e4b8cd-35bd-4e99-ba2d-606f191a13cf"	"2024-04-21"
"GENCC_000102-HGNC_16725-MONDO_0013979-HP_0000007-GENCC_100001"	"HGNC:16725"	"DNAAF11"	"MONDO:0013979"	"primary ciliary dyskinesia 19"	"MONDO:0013979"	"primary ciliary dyskinesia 19"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16725"	"DNAAF11"	"MONDO:0013979"	"primary ciliary dyskinesia 19"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7063ef1e-8ce2-4f35-a765-f08efc2e541a-2023-06-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7063ef1e-8ce2-4f35-a765-f08efc2e541a"	"2024-04-21"
"GENCC_000102-HGNC_20188-MONDO_0012918-HP_0000007-GENCC_100001"	"HGNC:20188"	"DNAAF2"	"MONDO:0012918"	"primary ciliary dyskinesia 10"	"MONDO:0012918"	"primary ciliary dyskinesia 10"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20188"	"DNAAF2"	"MONDO:0012918"	"primary ciliary dyskinesia 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39e5de96-3f16-4dde-a7bc-b3e27364b7f8-2024-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"39e5de96-3f16-4dde-a7bc-b3e27364b7f8"	"2024-04-21"
"GENCC_000102-HGNC_30492-MONDO_0011718-HP_0000007-GENCC_100001"	"HGNC:30492"	"DNAAF3"	"MONDO:0011718"	"primary ciliary dyskinesia 2"	"MONDO:0011718"	"primary ciliary dyskinesia 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30492"	"DNAAF3"	"MONDO:0011718"	"primary ciliary dyskinesia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-09 15:56:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40329b6f-2d65-49dd-863b-f79dcd1b5a23-2022-05-09T155600.823Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"40329b6f-2d65-49dd-863b-f79dcd1b5a23"	"2024-04-21"
"GENCC_000102-HGNC_2940-MONDO_0054615-HP_0000007-GENCC_100001"	"HGNC:2940"	"DNAH1"	"MONDO:0054615"	"spermatogenic failure 18"	"MONDO:0054615"	"spermatogenic failure 18"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2940"	"DNAH1"	"MONDO:0054615"	"spermatogenic failure 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a5dff5a-ff66-4e80-9eca-cb5f924edb73-2022-05-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4a5dff5a-ff66-4e80-9eca-cb5f924edb73"	"2024-04-21"
"GENCC_000102-HGNC_2940-MONDO_0033204-HP_0000007-GENCC_100004"	"HGNC:2940"	"DNAH1"	"MONDO:0033204"	"ciliary dyskinesia, primary, 37"	"MONDO:0033204"	"ciliary dyskinesia, primary, 37"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2940"	"DNAH1"	"MONDO:0033204"	"ciliary dyskinesia, primary, 37"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-14 01:37:21"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a07c8b6e-a558-498b-975c-b12e96878a44-2022-04-14T013721.941Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a07c8b6e-a558-498b-975c-b12e96878a44"	"2024-04-21"
"GENCC_000102-HGNC_2942-MONDO_0012748-HP_0000007-GENCC_100001"	"HGNC:2942"	"DNAH11"	"MONDO:0012748"	"primary ciliary dyskinesia 7"	"MONDO:0012748"	"primary ciliary dyskinesia 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2942"	"DNAH11"	"MONDO:0012748"	"primary ciliary dyskinesia 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-25 19:04:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84088c46-0763-4ed6-9352-530d846e8b24-2021-10-25T190427.941Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"84088c46-0763-4ed6-9352-530d846e8b24"	"2024-04-21"
"GENCC_000102-HGNC_2946-MONDO_0032845-HP_0000007-GENCC_100001"	"HGNC:2946"	"DNAH17"	"MONDO:0032845"	"spermatogenic failure 39"	"MONDO:0032845"	"spermatogenic failure 39"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2946"	"DNAH17"	"MONDO:0032845"	"spermatogenic failure 39"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-08 11:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef0cbb29-220d-45ae-828c-ab233dcf4824-2022-09-08T110000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ef0cbb29-220d-45ae-828c-ab233dcf4824"	"2024-04-21"
"GENCC_000102-HGNC_2950-MONDO_0012085-HP_0000007-GENCC_100001"	"HGNC:2950"	"DNAH5"	"MONDO:0012085"	"primary ciliary dyskinesia 3"	"MONDO:0012085"	"primary ciliary dyskinesia 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2950"	"DNAH5"	"MONDO:0012085"	"primary ciliary dyskinesia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-07 19:06:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4390dba1-012d-4e08-a841-ffc08ebdc737-2022-01-07T190607.723Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4390dba1-012d-4e08-a841-ffc08ebdc737"	"2024-04-21"
"GENCC_000102-HGNC_2952-MONDO_0016575-HP_0000007-GENCC_100005"	"HGNC:2952"	"DNAH8"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2952"	"DNAH8"	"MONDO:0016575"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c98a44d-6d43-48fc-8286-9e499bf04a1b-2022-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0c98a44d-6d43-48fc-8286-9e499bf04a1b"	"2024-04-21"
"GENCC_000102-HGNC_2952-MONDO_0033673-HP_0000007-GENCC_100002"	"HGNC:2952"	"DNAH8"	"MONDO:0033673"	"spermatogenic failure 46"	"MONDO:0033673"	"spermatogenic failure 46"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2952"	"DNAH8"	"MONDO:0033673"	"spermatogenic failure 46"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e740f4af-53fe-4c51-99f6-6111fe343d7f-2022-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e740f4af-53fe-4c51-99f6-6111fe343d7f"	"2024-04-21"
"GENCC_000102-HGNC_2954-MONDO_0009484-HP_0000007-GENCC_100001"	"HGNC:2954"	"DNAI1"	"MONDO:0009484"	"primary ciliary dyskinesia 1"	"MONDO:0009484"	"primary ciliary dyskinesia 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2954"	"DNAI1"	"MONDO:0009484"	"primary ciliary dyskinesia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_396be572-5b2c-4859-90dd-434a91c1ce96-2022-06-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"396be572-5b2c-4859-90dd-434a91c1ce96"	"2024-04-21"
"GENCC_000102-HGNC_18744-MONDO_0012906-HP_0000007-GENCC_100001"	"HGNC:18744"	"DNAI2"	"MONDO:0012906"	"primary ciliary dyskinesia 9"	"MONDO:0012906"	"primary ciliary dyskinesia 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18744"	"DNAI2"	"MONDO:0012906"	"primary ciliary dyskinesia 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_225300ab-ad49-4043-875b-a27a54d37b72-2022-08-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"225300ab-ad49-4043-875b-a27a54d37b72"	"2024-04-21"
"GENCC_000102-HGNC_14889-MONDO_0005308-HP_0000007-GENCC_100004"	"HGNC:14889"	"DNAJB11"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14889"	"DNAJB11"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42197b67-3c9d-47e6-b9c2-d6d3ef076acc-2022-04-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"42197b67-3c9d-47e6-b9c2-d6d3ef076acc"	"2024-04-21"
"GENCC_000102-HGNC_14889-MONDO_0004691-HP_0000006-GENCC_100001"	"HGNC:14889"	"DNAJB11"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14889"	"DNAJB11"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbbe08a1-2f13-445d-9492-d1f070e66c0c-2023-10-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dbbe08a1-2f13-445d-9492-d1f070e66c0c"	"2024-04-21"
"GENCC_000102-HGNC_5228-MONDO_0014866-HP_0000007-GENCC_100001"	"HGNC:5228"	"DNAJB2"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5228"	"DNAJB2"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-10 02:23:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d726e4f-6edb-4d04-b2ae-2cd05ecdd8db-2022-02-10T022350.942Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6d726e4f-6edb-4d04-b2ae-2cd05ecdd8db"	"2024-04-21"
"GENCC_000102-HGNC_14888-MONDO_0015151-HP_0000006-GENCC_100001"	"HGNC:14888"	"DNAJB6"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14888"	"DNAJB6"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97c1cb24-7c3b-4cd2-90f4-2b56fb539539-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"97c1cb24-7c3b-4cd2-90f4-2b56fb539539"	"2024-04-21"
"GENCC_000102-HGNC_28908-MONDO_0044304-HP_0000007-GENCC_100001"	"HGNC:28908"	"DNAJC12"	"MONDO:0044304"	"hyperphenylalaninemia due to DNAJC12 deficiency"	"MONDO:0044304"	"hyperphenylalaninemia due to DNAJC12 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28908"	"DNAJC12"	"MONDO:0044304"	"hyperphenylalaninemia due to DNAJC12 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-11 18:48:23"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_500ad0d5-2871-4b25-a96f-0c0816524a4b-2021-01-11T184823.935Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"500ad0d5-2871-4b25-a96f-0c0816524a4b"	"2024-04-21"
"GENCC_000102-HGNC_30528-MONDO_0012435-HP_0000007-GENCC_100001"	"HGNC:30528"	"DNAJC19"	"MONDO:0012435"	"3-methylglutaconic aciduria type 5"	"MONDO:0012435"	"3-methylglutaconic aciduria type 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30528"	"DNAJC19"	"MONDO:0012435"	"3-methylglutaconic aciduria type 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-24 02:43:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa7f8087-632d-4044-9e20-722085c3b42c-2021-09-24T024347.391Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fa7f8087-632d-4044-9e20-722085c3b42c"	"2024-04-21"
"GENCC_000102-HGNC_16235-MONDO_0019260-HP_0000006-GENCC_100003"	"HGNC:16235"	"DNAJC5"	"MONDO:0019260"	"adult neuronal ceroid lipofuscinosis"	"MONDO:0019260"	"adult neuronal ceroid lipofuscinosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16235"	"DNAJC5"	"MONDO:0019260"	"adult neuronal ceroid lipofuscinosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-07-30 05:20:05"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67f55ef1-b312-4aac-bc04-67beb2405b4f-2021-07-30T052005.845Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"67f55ef1-b312-4aac-bc04-67beb2405b4f"	"2024-04-21"
"GENCC_000102-HGNC_12392-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:12392"	"DNAJC7"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12392"	"DNAJC7"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2a12a19-b37a-4654-87fa-3a921c202c87-2022-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e2a12a19-b37a-4654-87fa-3a921c202c87"	"2024-04-21"
"GENCC_000102-HGNC_23247-MONDO_0013525-HP_0000007-GENCC_100004"	"HGNC:23247"	"DNAL1"	"MONDO:0013525"	"primary ciliary dyskinesia 16"	"MONDO:0013525"	"primary ciliary dyskinesia 16"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23247"	"DNAL1"	"MONDO:0013525"	"primary ciliary dyskinesia 16"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-12-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54088550-2704-4c1b-ac1b-51b62353a223-2023-12-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"54088550-2704-4c1b-ac1b-51b62353a223"	"2024-04-21"
"GENCC_000102-HGNC_2972-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:2972"	"DNM1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2972"	"DNM1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-06 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31f598a3-7efd-4e43-83f3-587e98924260-2024-02-06T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"31f598a3-7efd-4e43-83f3-587e98924260"	"2024-04-21"
"GENCC_000102-HGNC_2973-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:2973"	"DNM1L"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2973"	"DNM1L"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-30 14:45:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a922695-f136-44f8-ab1a-6581e0efafec-2021-06-30T144517.300Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0a922695-f136-44f8-ab1a-6581e0efafec"	"2024-04-21"
"GENCC_000102-HGNC_2973-MONDO_0054865-HP_0000006-GENCC_100001"	"HGNC:2973"	"DNM1L"	"MONDO:0054865"	"encephalopathy due to mitochondrial and peroxisomal fission defect"	"MONDO:0054865"	"encephalopathy due to mitochondrial and peroxisomal fission defect"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2973"	"DNM1L"	"MONDO:0054865"	"encephalopathy due to mitochondrial and peroxisomal fission defect"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_320f4ab3-19c3-458e-9e81-0f380cbfebbd-2022-04-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"320f4ab3-19c3-458e-9e81-0f380cbfebbd"	"2024-04-21"
"GENCC_000102-HGNC_2973-MONDO_0009723-HP_0000006-GENCC_100004"	"HGNC:2973"	"DNM1L"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2973"	"DNM1L"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-30 14:41:20"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c22e9c6b-f04d-4d56-acb3-baa308c596b7-2021-06-30T144120.695Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c22e9c6b-f04d-4d56-acb3-baa308c596b7"	"2024-04-21"
"GENCC_000102-HGNC_2974-MONDO_0015626-HP_0000006-GENCC_100001"	"HGNC:2974"	"DNM2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2974"	"DNM2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-27 13:18:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bc54e5d-eed5-4d40-9e0d-143bfeb88cac-2020-10-27T131827.010Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7bc54e5d-eed5-4d40-9e0d-143bfeb88cac"	"2024-04-21"
"GENCC_000102-HGNC_2974-MONDO_0008048-HP_0000006-GENCC_100001"	"HGNC:2974"	"DNM2"	"MONDO:0008048"	"autosomal dominant centronuclear myopathy"	"MONDO:0008048"	"autosomal dominant centronuclear myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2974"	"DNM2"	"MONDO:0008048"	"autosomal dominant centronuclear myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-12-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4156721-f6b9-482c-b610-97753f3f722d-2019-12-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e4156721-f6b9-482c-b610-97753f3f722d"	"2024-04-21"
"GENCC_000102-HGNC_2976-MONDO_0011397-HP_0000006-GENCC_100001"	"HGNC:2976"	"DNMT1"	"MONDO:0011397"	"autosomal dominant cerebellar ataxia, deafness and narcolepsy"	"MONDO:0011397"	"autosomal dominant cerebellar ataxia, deafness and narcolepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2976"	"DNMT1"	"MONDO:0011397"	"autosomal dominant cerebellar ataxia, deafness and narcolepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-10 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_6235"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6235"	"2024-04-21"
"GENCC_000102-HGNC_2978-MONDO_0032882-HP_0000006-GENCC_100004"	"HGNC:2978"	"DNMT3A"	"MONDO:0032882"	"Heyn-Sproul-Jackson syndrome"	"MONDO:0032882"	"Heyn-Sproul-Jackson syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2978"	"DNMT3A"	"MONDO:0032882"	"Heyn-Sproul-Jackson syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-06-08 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c4959e0-72fe-49e2-8e7e-639539dc9095-2023-06-08T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6c4959e0-72fe-49e2-8e7e-639539dc9095"	"2024-04-21"
"GENCC_000102-HGNC_2978-MONDO_0014382-HP_0000006-GENCC_100001"	"HGNC:2978"	"DNMT3A"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2978"	"DNMT3A"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-08 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c34cf649-4fbd-4184-9bef-34a780766aca-2023-06-08T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c34cf649-4fbd-4184-9bef-34a780766aca"	"2024-04-21"
"GENCC_000102-HGNC_2979-MONDO_0009454-HP_0000007-GENCC_100002"	"HGNC:2979"	"DNMT3B"	"MONDO:0009454"	"immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"MONDO:0009454"	"immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2979"	"DNMT3B"	"MONDO:0009454"	"immunodeficiency-centromeric instability-facial anomalies syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-04-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3482d453-c6c8-483d-8333-dbe4d5bd9b66-2023-04-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3482d453-c6c8-483d-8333-dbe4d5bd9b66"	"2024-04-21"
"GENCC_000102-HGNC_2988-MONDO_0014637-HP_0000007-GENCC_100001"	"HGNC:2988"	"DOCK2"	"MONDO:0014637"	"DOCK2 deficiency"	"MONDO:0014637"	"DOCK2 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2988"	"DOCK2"	"MONDO:0014637"	"DOCK2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-17 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63c0fb9c-33a6-4590-91a1-8ebe3967c4a6-2022-11-17T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"63c0fb9c-33a6-4590-91a1-8ebe3967c4a6"	"2024-04-21"
"GENCC_000102-HGNC_19189-MONDO_0007034-HP_0000007-GENCC_100001"	"HGNC:19189"	"DOCK6"	"MONDO:0007034"	"Adams-Oliver syndrome"	"MONDO:0007034"	"Adams-Oliver syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19189"	"DOCK6"	"MONDO:0007034"	"Adams-Oliver syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea64d74c-583d-4ed1-af91-6a7c6f80a1d3-2022-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ea64d74c-583d-4ed1-af91-6a7c6f80a1d3"	"2024-04-21"
"GENCC_000102-HGNC_19190-MONDO_0100062-HP_0000007-GENCC_100001"	"HGNC:19190"	"DOCK7"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19190"	"DOCK7"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-28 19:25:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b6ed421-950b-4862-bade-dc545555ac29-2021-07-28T192512.688Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0b6ed421-950b-4862-bade-dc545555ac29"	"2024-04-21"
"GENCC_000102-HGNC_19191-MONDO_0009478-HP_0000007-GENCC_100001"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-09 14:29:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07811d37-10c8-44dd-88b2-a2b574e59ac4-2021-04-09T142917.716Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"07811d37-10c8-44dd-88b2-a2b574e59ac4"	"2024-04-21"
"GENCC_000102-HGNC_23406-MONDO_0012556-HP_0000007-GENCC_100001"	"HGNC:23406"	"DOLK"	"MONDO:0012556"	"DK1-congenital disorder of glycosylation"	"MONDO:0012556"	"DK1-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23406"	"DOLK"	"MONDO:0012556"	"DK1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-04-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b780e34-fb4d-47d7-8436-6bdb6025bc72-2024-04-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2b780e34-fb4d-47d7-8436-6bdb6025bc72"	"2024-04-21"
"GENCC_000102-HGNC_9964-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:9964"	"DPF2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9964"	"DPF2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-15 02:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc8c072e-7b8d-4a94-97fe-c15c91759f0f-2023-08-15T020000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cc8c072e-7b8d-4a94-97fe-c15c91759f0f"	"2024-04-21"
"GENCC_000102-HGNC_3005-MONDO_0012123-HP_0000007-GENCC_100001"	"HGNC:3005"	"DPM1"	"MONDO:0012123"	"congenital disorder of glycosylation type 1E"	"MONDO:0012123"	"congenital disorder of glycosylation type 1E"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3005"	"DPM1"	"MONDO:0012123"	"congenital disorder of glycosylation type 1E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a4d2b7f-1de8-4f6c-8136-b62b62e1c226-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2a4d2b7f-1de8-4f6c-8136-b62b62e1c226"	"2024-04-21"
"GENCC_000102-HGNC_3007-MONDO_0013049-HP_0000007-GENCC_100003"	"HGNC:3007"	"DPM3"	"MONDO:0013049"	"DPM3-congenital disorder of glycosylation"	"MONDO:0013049"	"DPM3-congenital disorder of glycosylation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3007"	"DPM3"	"MONDO:0013049"	"DPM3-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-12-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76bcf111-b22b-4be4-8fe7-870c9744bf44-2023-12-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"76bcf111-b22b-4be4-8fe7-870c9744bf44"	"2024-04-21"
"GENCC_000102-HGNC_3010-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:3010"	"DPP6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3010"	"DPP6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-05-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d41cebe-5490-419d-882d-4f3c6856be07"	"2024-04-21"
"GENCC_000102-HGNC_3036-MONDO_0016342-HP_0000006-GENCC_100001"	"HGNC:3036"	"DSC2"	"MONDO:0016342"	"familial isolated arrhythmogenic right ventricular dysplasia"	"MONDO:0016342"	"familial isolated arrhythmogenic right ventricular dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3036"	"DSC2"	"MONDO:0016342"	"familial isolated arrhythmogenic right ventricular dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74238dee-a847-4f27-9d30-3050c7bf9bf2-2018-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"74238dee-a847-4f27-9d30-3050c7bf9bf2"	"2024-04-21"
"GENCC_000102-HGNC_3049-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:3049"	"DSG2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3049"	"DSG2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7df1018-593f-481f-9dd0-77ce3ea829a6-2020-08-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7df1018-593f-481f-9dd0-77ce3ea829a6"	"2024-04-21"
"GENCC_000102-HGNC_3049-MONDO_0016587-HP_0000006-GENCC_100001"	"HGNC:3049"	"DSG2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3049"	"DSG2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f679611d-6e25-45f9-aac3-4a8ad37b1592-2018-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f679611d-6e25-45f9-aac3-4a8ad37b1592"	"2024-04-21"
"GENCC_000102-HGNC_3052-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:3052"	"DSP"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3052"	"DSP"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-06-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83a9ea83-5dec-4496-a5d8-9b5fdf9373d7-2022-06-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"83a9ea83-5dec-4496-a5d8-9b5fdf9373d7"	"2024-04-21"
"GENCC_000102-HGNC_3052-MONDO_0011581-HP_0000006-GENCC_100001"	"HGNC:3052"	"DSP"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3052"	"DSP"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23da580-269c-4e5d-8f13-91dbe7ea6a57-2019-07-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b23da580-269c-4e5d-8f13-91dbe7ea6a57"	"2024-04-21"
"GENCC_000102-HGNC_3054-MONDO_0018849-HP_0000006-GENCC_100001"	"HGNC:3054"	"DSPP"	"MONDO:0018849"	"dentinogenesis imperfecta"	"MONDO:0018849"	"dentinogenesis imperfecta"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3054"	"DSPP"	"MONDO:0018849"	"dentinogenesis imperfecta"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39f5492a-97a3-49a6-929d-f24f23b51217-2018-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"39f5492a-97a3-49a6-929d-f24f23b51217"	"2024-04-21"
"GENCC_000102-HGNC_1090-MONDO_0013839-HP_0000007-GENCC_100001"	"HGNC:1090"	"DST"	"MONDO:0013839"	"hereditary sensory and autonomic neuropathy type 6"	"MONDO:0013839"	"hereditary sensory and autonomic neuropathy type 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1090"	"DST"	"MONDO:0013839"	"hereditary sensory and autonomic neuropathy type 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d90c7de8-a72a-4c54-bab8-fe9d4aef0409-2021-12-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d90c7de8-a72a-4c54-bab8-fe9d4aef0409"	"2024-04-21"
"GENCC_000102-HGNC_29043-MONDO_0015150-HP_0000007-GENCC_100003"	"HGNC:29043"	"DSTYK"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29043"	"DSTYK"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-29 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbac4423-e313-4694-a7ac-2005164ea832-2023-09-29T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bbac4423-e313-4694-a7ac-2005164ea832"	"2024-04-21"
"GENCC_000102-HGNC_3057-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:3057"	"DTNA"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3057"	"DTNA"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdac9dca-0cc7-4cca-9af7-d2767d917fd4-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cdac9dca-0cc7-4cca-9af7-d2767d917fd4"	"2024-04-21"
"GENCC_000102-HGNC_3057-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:3057"	"DTNA"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3057"	"DTNA"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2024-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd37e3a0-bb02-4450-86c5-46e9c64d1d39-2024-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dd37e3a0-bb02-4450-86c5-46e9c64d1d39"	"2024-04-21"
"GENCC_000102-HGNC_17328-MONDO_0013559-HP_0000007-GENCC_100001"	"HGNC:17328"	"DTNBP1"	"MONDO:0013559"	"Hermansky-Pudlak syndrome 7"	"MONDO:0013559"	"Hermansky-Pudlak syndrome 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17328"	"DTNBP1"	"MONDO:0013559"	"Hermansky-Pudlak syndrome 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-24 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_785a39b1-9c7b-4745-94b6-be6a9376ac97-2021-02-24T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"785a39b1-9c7b-4745-94b6-be6a9376ac97"	"2024-04-21"
"GENCC_000102-HGNC_2961-MONDO_0000075-HP_0000006-GENCC_100001"	"HGNC:2961"	"DYNC1H1"	"MONDO:0000075"	"neuronopathy, distal hereditary motor"	"MONDO:0000075"	"neuronopathy, distal hereditary motor"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2961"	"DYNC1H1"	"MONDO:0000075"	"obsolete neuronopathy, distal hereditary motor"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1e12eb9-aea0-4597-8893-48df533f6ad9-2023-07-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c1e12eb9-aea0-4597-8893-48df533f6ad9"	"2024-04-21"
"GENCC_000102-HGNC_3091-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:3091"	"DYRK1A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3091"	"DYRK1A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-15 19:58:02"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b336707e-f3a5-4554-9b37-0d29621b3562-2020-07-15T195802.528Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b336707e-f3a5-4554-9b37-0d29621b3562"	"2024-04-21"
"GENCC_000102-HGNC_3097-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:3097"	"DYSF"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3097"	"DYSF"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-01 19:32:04"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94042756-2e7a-4cfa-812c-1b88b703eeea-2020-05-01T193204.280Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"94042756-2e7a-4cfa-812c-1b88b703eeea"	"2024-04-21"
"GENCC_000102-HGNC_26551-MONDO_0009889-HP_0000007-GENCC_100001"	"HGNC:26551"	"DZIP1L"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26551"	"DZIP1L"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1e2d1d2-b77c-4f1a-b185-31e3a95aae9b-2024-03-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1e2d1d2-b77c-4f1a-b185-31e3a95aae9b"	"2024-04-21"
"GENCC_000102-HGNC_29419-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:29419"	"EARS2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29419"	"EARS2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-19 19:07:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_774e378c-2636-41ad-be48-a2c00328ab9c-2020-03-19T190729.531Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"774e378c-2636-41ad-be48-a2c00328ab9c"	"2024-04-21"
"GENCC_000102-HGNC_19087-MONDO_0015021-HP_0000006-GENCC_100001"	"HGNC:19087"	"EBF3"	"MONDO:0015021"	"hypotonia, ataxia, and delayed development syndrome"	"MONDO:0015021"	"hypotonia, ataxia, and delayed development syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19087"	"EBF3"	"MONDO:0015021"	"hypotonia, ataxia, and delayed development syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c194cac3-00f5-44b5-9993-64cf7aca9cf4-2023-05-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c194cac3-00f5-44b5-9993-64cf7aca9cf4"	"2024-04-21"
"GENCC_000102-HGNC_3133-MONDO_0010498-HP_0001417-GENCC_100001"	"HGNC:3133"	"EBP"	"MONDO:0010498"	"MEND syndrome"	"MONDO:0010498"	"MEND syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3133"	"EBP"	"MONDO:0010498"	"MEND syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-07 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21e97c32-52ae-4331-8788-64d652f20af3-2022-09-07T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"21e97c32-52ae-4331-8788-64d652f20af3"	"2024-04-21"
"GENCC_000102-HGNC_3151-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:3151"	"ECHS1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3151"	"ECHS1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-09 14:26:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d443f3c-fe02-4104-9e92-ca1c73b85a81-2021-04-09T142601.823Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d443f3c-fe02-4104-9e92-ca1c73b85a81"	"2024-04-21"
"GENCC_000102-HGNC_3151-MONDO_0014563-HP_0000007-GENCC_100001"	"HGNC:3151"	"ECHS1"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3151"	"ECHS1"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dad38816-be17-4d59-bbfd-3e79221911a4-2018-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dad38816-be17-4d59-bbfd-3e79221911a4"	"2024-04-21"
"GENCC_000102-HGNC_3178-MONDO_0013201-HP_0000006-GENCC_100004"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-05-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04e39ada-cd77-43f0-98f3-7b4a37668a96-2018-05-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"04e39ada-cd77-43f0-98f3-7b4a37668a96"	"2024-04-21"
"GENCC_000102-HGNC_3178-MONDO_0013201-HP_0000007-GENCC_100003"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f88c34c-a093-4fc8-b84a-49c7d2dd327f-2023-06-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f88c34c-a093-4fc8-b84a-49c7d2dd327f"	"2024-04-21"
"GENCC_000102-HGNC_3180-MONDO_0010192-HP_0000006-GENCC_100004"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-05-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73ee9727-60c1-40fd-830f-08c2b513d2ee-2018-05-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"73ee9727-60c1-40fd-830f-08c2b513d2ee"	"2024-04-21"
"GENCC_000102-HGNC_3180-MONDO_0010192-HP_0000007-GENCC_100003"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7abbd45-7915-437b-849b-dea876bfc2f5-2023-06-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d7abbd45-7915-437b-849b-dea876bfc2f5"	"2024-04-21"
"GENCC_000102-HGNC_3188-MONDO_0060510-HP_0000006-GENCC_100003"	"HGNC:3188"	"EED"	"MONDO:0060510"	"Cohen-Gibson syndrome"	"MONDO:0060510"	"Cohen-Gibson syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3188"	"EED"	"MONDO:0060510"	"Cohen-Gibson syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-06 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44531e19-7957-424f-81e9-fc455095f14a-2022-12-06T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"44531e19-7957-424f-81e9-fc455095f14a"	"2024-04-21"
"GENCC_000102-HGNC_3192-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:3192"	"EEF1A2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3192"	"EEF1A2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17551147-b62c-47a9-a12a-f425c23d90ff-2019-03-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"17551147-b62c-47a9-a12a-f425c23d90ff"	"2024-04-21"
"GENCC_000102-HGNC_3218-MONDO_0007471-HP_0000006-GENCC_100001"	"HGNC:3218"	"EFEMP1"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3218"	"EFEMP1"	"MONDO:0007471"	"Doyne honeycomb retinal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2859008e-eeb1-4af4-8a6e-1bf5372bb3ab-2021-08-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2859008e-eeb1-4af4-8a6e-1bf5372bb3ab"	"2024-04-21"
"GENCC_000102-HGNC_3219-MONDO_0019625-HP_0000007-GENCC_100003"	"HGNC:3219"	"EFEMP2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3219"	"EFEMP2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8267"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8267"	"2024-04-21"
"GENCC_000102-HGNC_16406-MONDO_0005027-HP_0000006-GENCC_100006"	"HGNC:16406"	"EFHC1"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16406"	"EFHC1"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-09-05 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2338bd8-c9ea-464b-8281-84472771a657-2023-09-05T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a2338bd8-c9ea-464b-8281-84472771a657"	"2024-04-21"
"GENCC_000102-HGNC_3226-MONDO_0010570-HP_0001417-GENCC_100001"	"HGNC:3226"	"EFNB1"	"MONDO:0010570"	"craniofrontonasal syndrome"	"MONDO:0010570"	"craniofrontonasal syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3226"	"EFNB1"	"MONDO:0010570"	"craniofrontonasal syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-26 15:46:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31ffbd0b-5c6b-4396-a84c-9330d81e4a08-2020-10-26T154650.453Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"31ffbd0b-5c6b-4396-a84c-9330d81e4a08"	"2024-04-21"
"GENCC_000102-HGNC_30858-MONDO_0012516-HP_0000006-GENCC_100001"	"HGNC:30858"	"EFTUD2"	"MONDO:0012516"	"mandibulofacial dysostosis-microcephaly syndrome"	"MONDO:0012516"	"mandibulofacial dysostosis-microcephaly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30858"	"EFTUD2"	"MONDO:0012516"	"mandibulofacial dysostosis-microcephaly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66012775-240c-4640-ac66-12647021eee5-2022-07-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"66012775-240c-4640-ac66-12647021eee5"	"2024-04-21"
"GENCC_000102-HGNC_3236-MONDO_0005233-HP_0000006-GENCC_100001"	"HGNC:3236"	"EGFR"	"MONDO:0005233"	"non-small cell lung carcinoma"	"MONDO:0005233"	"non-small cell lung carcinoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3236"	"EGFR"	"MONDO:0005233"	"non-small cell lung carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 20:22:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49342c73-96d7-45ba-9c90-d2d5e5710636-2020-07-30T202207.418Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"49342c73-96d7-45ba-9c90-d2d5e5710636"	"2024-04-21"
"GENCC_000102-HGNC_3239-MONDO_0015626-HP_0032113-GENCC_100001"	"HGNC:3239"	"EGR2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:3239"	"EGR2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-17 03:35:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6e83e27-0c9a-4475-92f5-745303931858-2021-11-17T033516.468Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a6e83e27-0c9a-4475-92f5-745303931858"	"2024-04-21"
"GENCC_000102-HGNC_3247-MONDO_0014275-HP_0000006-GENCC_100004"	"HGNC:3247"	"EHHADH"	"MONDO:0014275"	"Fanconi renotubular syndrome 3"	"MONDO:0014275"	"Fanconi renotubular syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3247"	"EHHADH"	"MONDO:0014275"	"Fanconi renotubular syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f938d7bc-f717-438c-bc27-962ba62dde93-2023-03-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f938d7bc-f717-438c-bc27-962ba62dde93"	"2024-04-21"
"GENCC_000102-HGNC_24650-MONDO_0012455-HP_0000006-GENCC_100001"	"HGNC:24650"	"EHMT1"	"MONDO:0012455"	"Kleefstra syndrome"	"MONDO:0012455"	"Kleefstra syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24650"	"EHMT1"	"MONDO:0012455"	"Kleefstra syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-07 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db91a861-6a88-4848-b6d5-4772bdef52ff-2018-06-07T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db91a861-6a88-4848-b6d5-4772bdef52ff"	"2024-04-21"
"GENCC_000102-HGNC_19687-MONDO_0018554-HP_0000007-GENCC_100001"	"HGNC:19687"	"EIF2AK4"	"MONDO:0018554"	"pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"	"MONDO:0018554"	"pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19687"	"EIF2AK4"	"MONDO:0018554"	"pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d20386c-ad1a-4c88-9f43-4ca3cedbfd6f-2022-12-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9d20386c-ad1a-4c88-9f43-4ca3cedbfd6f"	"2024-04-21"
"GENCC_000102-HGNC_3267-MONDO_0010258-HP_0000006-GENCC_100001"	"HGNC:3267"	"EIF2S3"	"MONDO:0010258"	"MEHMO syndrome"	"MONDO:0010258"	"MEHMO syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3267"	"EIF2S3"	"MONDO:0010258"	"MEHMO syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb96fe11-dd31-47b2-820d-9071035ec7b0-2021-11-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb96fe11-dd31-47b2-820d-9071035ec7b0"	"2024-04-21"
"GENCC_000102-HGNC_3275-MONDO_0000508-HP_0000007-GENCC_100001"	"HGNC:3275"	"EIF3F"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3275"	"EIF3F"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-06 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0f623e7-ea96-461a-a348-7aa5a7a1d7ff-2023-12-06T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d0f623e7-ea96-461a-a348-7aa5a7a1d7ff"	"2024-04-21"
"GENCC_000102-HGNC_14198-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:14198"	"ELAC2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14198"	"ELAC2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-21 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff57f761-51cd-41aa-a287-7387e0f5f028-2022-07-21T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff57f761-51cd-41aa-a287-7387e0f5f028"	"2024-04-21"
"GENCC_000102-HGNC_3309-MONDO_0001475-HP_0000006-GENCC_100001"	"HGNC:3309"	"ELANE"	"MONDO:0001475"	"neutropenia"	"MONDO:0001475"	"neutropenia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3309"	"ELANE"	"MONDO:0001475"	"neutropenia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-14 00:09:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_259c43d2-b114-43bd-9e4e-a7beeb644323-2020-05-14T000924.456Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"259c43d2-b114-43bd-9e4e-a7beeb644323"	"2024-04-21"
"GENCC_000102-HGNC_26158-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:26158"	"ELMOD3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26158"	"ELMOD3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86999665-43b6-4824-b5e5-81b2a6dd8034-2021-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"86999665-43b6-4824-b5e5-81b2a6dd8034"	"2024-04-21"
"GENCC_000102-HGNC_26158-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:26158"	"ELMOD3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26158"	"ELMOD3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95f5efe3-e0d1-4cef-b475-7ff1cd3c417c-2021-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"95f5efe3-e0d1-4cef-b475-7ff1cd3c417c"	"2024-04-21"
"GENCC_000102-HGNC_14415-MONDO_0010819-HP_0000006-GENCC_100001"	"HGNC:14415"	"ELOVL4"	"MONDO:0010819"	"Stargardt disease 3"	"MONDO:0010819"	"Stargardt disease 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14415"	"ELOVL4"	"MONDO:0010819"	"Stargardt disease 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b9daf74-594d-4f11-b322-d671266ebf8e-2023-02-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b9daf74-594d-4f11-b322-d671266ebf8e"	"2024-04-21"
"GENCC_000102-HGNC_28957-MONDO_0100516-HP_0000007-GENCC_100003"	"HGNC:28957"	"EMC1"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28957"	"EMC1"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-03 01:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_659c7312-5d0a-44d0-9bd0-3e2b2ba385ce-2022-11-03T013000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"659c7312-5d0a-44d0-9bd0-3e2b2ba385ce"	"2024-04-21"
"GENCC_000102-HGNC_28957-MONDO_0100516-HP_0000006-GENCC_100003"	"HGNC:28957"	"EMC1"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28957"	"EMC1"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-10-06 01:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab319081-d3bf-436a-af1e-fce77cf8837a-2022-10-06T013000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab319081-d3bf-436a-af1e-fce77cf8837a"	"2024-04-21"
"GENCC_000102-HGNC_3343-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:3343"	"EN2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3343"	"EN2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91eb2fc6-864c-4a4a-9b2d-0b2bdd695999-2021-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"91eb2fc6-864c-4a4a-9b2d-0b2bdd695999"	"2024-04-21"
"GENCC_000102-HGNC_3349-MONDO_0017380-HP_0000006-GENCC_100004"	"HGNC:3349"	"ENG"	"MONDO:0017380"	"juvenile polyposis syndrome"	"MONDO:0017380"	"juvenile polyposis syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3349"	"ENG"	"MONDO:0017380"	"juvenile polyposis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08c5b377-a2a1-44ac-9b7e-dc2141ee7a04-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"08c5b377-a2a1-44ac-9b7e-dc2141ee7a04"	"2024-04-21"
"GENCC_000102-HGNC_3349-MONDO_0008535-HP_0000006-GENCC_100001"	"HGNC:3349"	"ENG"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3349"	"ENG"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4d13b4a-f97b-45d0-9b82-07bcb6685a0a-2022-12-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d4d13b4a-f97b-45d0-9b82-07bcb6685a0a"	"2024-04-21"
"GENCC_000102-HGNC_3363-MONDO_0015150-HP_0000007-GENCC_100001"	"HGNC:3363"	"ENTPD1"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3363"	"ENTPD1"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-06 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8634ea9c-3fce-4d72-94e9-2ac6756e5cb6-2023-05-06T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8634ea9c-3fce-4d72-94e9-2ac6756e5cb6"	"2024-04-21"
"GENCC_000102-HGNC_3373-MONDO_0013364-HP_0000006-GENCC_100001"	"HGNC:3373"	"EP300"	"MONDO:0013364"	"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"	"MONDO:0013364"	"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3373"	"EP300"	"MONDO:0013364"	"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-20 04:40:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5559f540-f08e-4446-bc8b-a241bb3a4a8e-2022-05-20T044017.803Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5559f540-f08e-4446-bc8b-a241bb3a4a8e"	"2024-04-21"
"GENCC_000102-HGNC_3378-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:3378"	"EPB41L1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3378"	"EPB41L1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-07-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3be1f426-ad87-4540-9582-a9dcf96ffddd-2022-07-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3be1f426-ad87-4540-9582-a9dcf96ffddd"	"2024-04-21"
"GENCC_000102-HGNC_11529-MONDO_0005835-HP_0000006-GENCC_100001"	"HGNC:11529"	"EPCAM"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11529"	"EPCAM"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c071c7e-ba5c-46c7-b46b-fee6acf3a43f-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3c071c7e-ba5c-46c7-b46b-fee6acf3a43f"	"2024-04-21"
"GENCC_000102-HGNC_11529-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:11529"	"EPCAM"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11529"	"EPCAM"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efe1b152-d818-49bd-9f6f-cebe944b3404-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"efe1b152-d818-49bd-9f6f-cebe944b3404"	"2024-04-21"
"GENCC_000102-HGNC_3395-MONDO_0700080-HP_0000006-GENCC_100001"	"HGNC:3395"	"EPHB4"	"MONDO:0700080"	"EPHB4-associated vascular malformation spectrum"	"MONDO:0700080"	"EPHB4-associated vascular malformation spectrum"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3395"	"EPHB4"	"MONDO:0700080"	"EPHB4-associated vascular malformation spectrum"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1a3438a-72a7-41f7-b140-2041ea7a39c1-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1a3438a-72a7-41f7-b140-2041ea7a39c1"	"2024-04-21"
"GENCC_000102-HGNC_3401-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:3401"	"EPHX1"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3401"	"EPHX1"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-11-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8431"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8431"	"2024-04-21"
"GENCC_000102-HGNC_3413-MONDO_0009697-HP_0000007-GENCC_100001"	"HGNC:3413"	"EPM2A"	"MONDO:0009697"	"Lafora disease"	"MONDO:0009697"	"Lafora disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3413"	"EPM2A"	"MONDO:0009697"	"Lafora disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-23 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f970ced6-0164-41ed-9e1f-1fb9f892bca6-2020-05-23T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f970ced6-0164-41ed-9e1f-1fb9f892bca6"	"2024-04-21"
"GENCC_000102-HGNC_3420-MONDO_0014428-HP_0000007-GENCC_100003"	"HGNC:3420"	"EPS8"	"MONDO:0014428"	"autosomal recessive nonsyndromic hearing loss 102"	"MONDO:0014428"	"autosomal recessive nonsyndromic hearing loss 102"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3420"	"EPS8"	"MONDO:0014428"	"autosomal recessive nonsyndromic hearing loss 102"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-02-06 17:16:14"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a6bd2bf-8ede-45cb-a1c1-65ee5221b440-2020-02-06T171614.553Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7a6bd2bf-8ede-45cb-a1c1-65ee5221b440"	"2024-04-21"
"GENCC_000102-HGNC_21296-MONDO_0019497-HP_0000007-GENCC_100003"	"HGNC:21296"	"EPS8L2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21296"	"EPS8L2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-02-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0022ad7-8497-4139-94a7-2546ba482c88-2020-02-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e0022ad7-8497-4139-94a7-2546ba482c88"	"2024-04-21"
"GENCC_000102-HGNC_3432-MONDO_0014223-HP_0000006-GENCC_100004"	"HGNC:3432"	"ERBB4"	"MONDO:0014223"	"amyotrophic lateral sclerosis type 19"	"MONDO:0014223"	"amyotrophic lateral sclerosis type 19"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3432"	"ERBB4"	"MONDO:0014223"	"amyotrophic lateral sclerosis type 19"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-09-30 14:31:44"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdd26ab6-0c1f-4322-9f70-cad651bb789f-2021-09-30T143144.993Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fdd26ab6-0c1f-4322-9f70-cad651bb789f"	"2024-04-21"
"GENCC_000102-HGNC_3434-MONDO_0010212-HP_0000007-GENCC_100001"	"HGNC:3434"	"ERCC2"	"MONDO:0010212"	"xeroderma pigmentosum group D"	"MONDO:0010212"	"xeroderma pigmentosum group D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3434"	"ERCC2"	"MONDO:0010212"	"xeroderma pigmentosum group D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91d0c244-d958-4358-8b92-cefefbce3843-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"91d0c244-d958-4358-8b92-cefefbce3843"	"2024-04-21"
"GENCC_000102-HGNC_3435-MONDO_0012531-HP_0000007-GENCC_100001"	"HGNC:3435"	"ERCC3"	"MONDO:0012531"	"xeroderma pigmentosum group B"	"MONDO:0012531"	"xeroderma pigmentosum group B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3435"	"ERCC3"	"MONDO:0012531"	"xeroderma pigmentosum group B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf09deab-9612-4b13-8bb7-4c2a25dde868-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bf09deab-9612-4b13-8bb7-4c2a25dde868"	"2024-04-21"
"GENCC_000102-HGNC_3436-MONDO_0010215-HP_0000007-GENCC_100001"	"HGNC:3436"	"ERCC4"	"MONDO:0010215"	"xeroderma pigmentosum group F"	"MONDO:0010215"	"xeroderma pigmentosum group F"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3436"	"ERCC4"	"MONDO:0010215"	"xeroderma pigmentosum group F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-08-14 19:44:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89544dc5-2d3b-4b7f-b835-3fec714bf7a5-2019-08-14T194406.189Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"89544dc5-2d3b-4b7f-b835-3fec714bf7a5"	"2024-04-21"
"GENCC_000102-HGNC_3437-MONDO_0010216-HP_0000007-GENCC_100001"	"HGNC:3437"	"ERCC5"	"MONDO:0010216"	"xeroderma pigmentosum group G"	"MONDO:0010216"	"xeroderma pigmentosum group G"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3437"	"ERCC5"	"MONDO:0010216"	"xeroderma pigmentosum group G"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc08c954-8ded-449b-8f67-e4f044b26cda-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fc08c954-8ded-449b-8f67-e4f044b26cda"	"2024-04-21"
"GENCC_000102-HGNC_3438-MONDO_0100506-HP_0000007-GENCC_100001"	"HGNC:3438"	"ERCC6"	"MONDO:0100506"	"Cockayne spectrum with or without cerebrooculofacioskeletal syndrome"	"MONDO:0100506"	"Cockayne spectrum with or without cerebrooculofacioskeletal syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3438"	"ERCC6"	"MONDO:0100506"	"Cockayne spectrum with or without cerebrooculofacioskeletal syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-18 10:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9dbf99e-d648-465c-8aa5-0840e76c0aeb-2022-08-18T100000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e9dbf99e-d648-465c-8aa5-0840e76c0aeb"	"2024-04-21"
"GENCC_000102-HGNC_3439-MONDO_0019569-HP_0000007-GENCC_100001"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"MONDO:0019569"	"Cockayne syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3439"	"ERCC8"	"MONDO:0019569"	"Cockayne syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-12 10:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abb43bf9-5d0c-4753-8230-6bd97805a8bc-2022-08-12T100000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"abb43bf9-5d0c-4753-8230-6bd97805a8bc"	"2024-04-21"
"GENCC_000102-HGNC_3444-MONDO_0010929-HP_0000006-GENCC_100001"	"HGNC:3444"	"ERF"	"MONDO:0010929"	"craniosynostosis 4"	"MONDO:0010929"	"craniosynostosis 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3444"	"ERF"	"MONDO:0010929"	"craniosynostosis 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-12 06:20:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1954ba97-532a-4ef3-9d62-c4ebfd252084-2021-06-12T062024.684Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1954ba97-532a-4ef3-9d62-c4ebfd252084"	"2024-04-21"
"GENCC_000102-HGNC_16947-MONDO_0004976-HP_0000007-GENCC_100004"	"HGNC:16947"	"ERLIN1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16947"	"ERLIN1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-07-27 16:09:19"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d668c62f-b002-4015-a629-ecbebed40e59-2021-07-27T160919.089Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d668c62f-b002-4015-a629-ecbebed40e59"	"2024-04-21"
"GENCC_000102-HGNC_27230-MONDO_0100253-HP_0000007-GENCC_100001"	"HGNC:27230"	"ESCO2"	"MONDO:0100253"	"Roberts-SC phocomelia syndrome"	"MONDO:0100253"	"Roberts-SC phocomelia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:27230"	"ESCO2"	"MONDO:0100253"	"Roberts-SC phocomelia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-30 14:23:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4020105e-bc43-4365-9540-9a8f77b37fae-2021-07-30T142327.055Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4020105e-bc43-4365-9540-9a8f77b37fae"	"2024-04-21"
"GENCC_000102-HGNC_13281-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:13281"	"ESPN"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13281"	"ESPN"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c63a581-ad69-4f18-b68b-d1b2cef5e699-2018-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7c63a581-ad69-4f18-b68b-d1b2cef5e699"	"2024-04-21"
"GENCC_000102-HGNC_13281-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:13281"	"ESPN"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13281"	"ESPN"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bdbd958-1ad2-447a-9ccd-ed86f308577a-2018-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9bdbd958-1ad2-447a-9ccd-ed86f308577a"	"2024-04-21"
"GENCC_000102-HGNC_3473-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:3473"	"ESRRB"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3473"	"ESRRB"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03c875bb-70aa-4652-a7f2-35df1065165b-2018-04-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03c875bb-70aa-4652-a7f2-35df1065165b"	"2024-04-21"
"GENCC_000102-HGNC_3481-MONDO_0009282-HP_0000007-GENCC_100001"	"HGNC:3481"	"ETFA"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3481"	"ETFA"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d6848e7-6e9e-4545-9f97-69480face058-2018-05-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d6848e7-6e9e-4545-9f97-69480face058"	"2024-04-21"
"GENCC_000102-HGNC_3482-MONDO_0009282-HP_0000007-GENCC_100001"	"HGNC:3482"	"ETFB"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3482"	"ETFB"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9a8d844-c82a-4258-bd48-10e2d977273e-2023-05-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d9a8d844-c82a-4258-bd48-10e2d977273e"	"2024-04-21"
"GENCC_000102-HGNC_3483-MONDO_0009282-HP_0000007-GENCC_100001"	"HGNC:3483"	"ETFDH"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3483"	"ETFDH"	"MONDO:0009282"	"multiple acyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_062e336e-cfda-45f7-b509-cd44a5079034-2018-05-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"062e336e-cfda-45f7-b509-cd44a5079034"	"2024-04-21"
"GENCC_000102-HGNC_23287-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:23287"	"ETHE1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23287"	"ETHE1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-08 16:17:59"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d29d908d-ea85-4eb4-a6a5-400c95511c9a-2019-04-08T161759.443Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d29d908d-ea85-4eb4-a6a5-400c95511c9a"	"2024-04-21"
"GENCC_000102-HGNC_3488-MONDO_0005453-HP_0000006-GENCC_100003"	"HGNC:3488"	"ETS1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3488"	"ETS1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-11-21 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d880eb55-5a26-46f7-b53d-1276c521fa1b-2023-11-21T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d880eb55-5a26-46f7-b53d-1276c521fa1b"	"2024-04-21"
"GENCC_000102-HGNC_3495-MONDO_0014536-HP_0000006-GENCC_100001"	"HGNC:3495"	"ETV6"	"MONDO:0014536"	"thrombocytopenia 5"	"MONDO:0014536"	"thrombocytopenia 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3495"	"ETV6"	"MONDO:0014536"	"thrombocytopenia 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92a8c1cb-91c1-45cd-adbe-4180b1f6da7d-2020-01-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"92a8c1cb-91c1-45cd-adbe-4180b1f6da7d"	"2024-04-21"
"GENCC_000102-HGNC_3508-MONDO_0004976-HP_0000005-GENCC_100005"	"HGNC:3508"	"EWSR1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100005"	"Disputed Evidence"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:3508"	"EWSR1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-10-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e210cfa-3eb4-4f9b-ad0c-67cfae624029-2022-10-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4e210cfa-3eb4-4f9b-ad0c-67cfae624029"	"2024-04-21"
"GENCC_000102-HGNC_3511-MONDO_0005835-HP_0000006-GENCC_100006"	"HGNC:3511"	"EXO1"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3511"	"EXO1"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3981895c-65e4-4553-9e06-234162704eb4-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3981895c-65e4-4553-9e06-234162704eb4"	"2024-04-21"
"GENCC_000102-HGNC_24968-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:24968"	"EXOC2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24968"	"EXOC2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-08-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8813a496-aad3-4854-83de-8c935d07ad44-2023-08-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8813a496-aad3-4854-83de-8c935d07ad44"	"2024-04-21"
"GENCC_000102-HGNC_23214-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:23214"	"EXOC7"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23214"	"EXOC7"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfa8fad2-3961-4f16-861f-45ce6c859ad8-2023-06-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cfa8fad2-3961-4f16-861f-45ce6c859ad8"	"2024-04-21"
"GENCC_000102-HGNC_3512-MONDO_0007585-HP_0000006-GENCC_100001"	"HGNC:3512"	"EXT1"	"MONDO:0007585"	"exostoses, multiple, type 1"	"MONDO:0007585"	"exostoses, multiple, type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3512"	"EXT1"	"MONDO:0007585"	"exostoses, multiple, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ced1387-c0a8-4f03-bd70-1595cb7683fd-2018-06-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0ced1387-c0a8-4f03-bd70-1595cb7683fd"	"2024-04-21"
"GENCC_000102-HGNC_3513-MONDO_0007586-HP_0000006-GENCC_100001"	"HGNC:3513"	"EXT2"	"MONDO:0007586"	"exostoses, multiple, type 2"	"MONDO:0007586"	"exostoses, multiple, type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3513"	"EXT2"	"MONDO:0007586"	"exostoses, multiple, type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-21 15:31:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e6829ce-3e0b-44c5-a214-756f33b1e948-2018-12-21T153126.680Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e6829ce-3e0b-44c5-a214-756f33b1e948"	"2024-04-21"
"GENCC_000102-HGNC_3519-MONDO_0007029-HP_0000006-GENCC_100001"	"HGNC:3519"	"EYA1"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3519"	"EYA1"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dca41ef6-ee63-4b1f-93d3-8b114dafcc58-2017-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dca41ef6-ee63-4b1f-93d3-8b114dafcc58"	"2024-04-21"
"GENCC_000102-HGNC_3522-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:3522"	"EYA4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3522"	"EYA4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21c75059-bd7b-48ef-a828-28ffebe52ca0-2018-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"21c75059-bd7b-48ef-a828-28ffebe52ca0"	"2024-04-21"
"GENCC_000102-HGNC_3522-MONDO_0011541-HP_0000006-GENCC_100004"	"HGNC:3522"	"EYA4"	"MONDO:0011541"	"dilated cardiomyopathy 1J"	"MONDO:0011541"	"dilated cardiomyopathy 1J"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3522"	"EYA4"	"MONDO:0011541"	"dilated cardiomyopathy 1J"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-11-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0a0bad-1f7a-402e-af19-a80453653b86-2020-11-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5e0a0bad-1f7a-402e-af19-a80453653b86"	"2024-04-21"
"GENCC_000102-HGNC_21555-MONDO_0800391-HP_0000007-GENCC_100001"	"HGNC:21555"	"EYS"	"MONDO:0800391"	"EYS-related retinopathy"	"MONDO:0800391"	"EYS-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21555"	"EYS"	"MONDO:0800391"	"EYS-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f70860e-464d-4d26-aee0-07ef03e4da1b-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f70860e-464d-4d26-aee0-07ef03e4da1b"	"2024-04-21"
"GENCC_000102-HGNC_3527-MONDO_0010193-HP_0000006-GENCC_100001"	"HGNC:3527"	"EZH2"	"MONDO:0010193"	"Weaver syndrome"	"MONDO:0010193"	"Weaver syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3527"	"EZH2"	"MONDO:0010193"	"Weaver syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dcf5941-6076-4486-94be-7ba3944abaee-2022-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5dcf5941-6076-4486-94be-7ba3944abaee"	"2024-04-21"
"GENCC_000102-HGNC_3528-MONDO_0009212-HP_0000007-GENCC_100001"	"HGNC:3528"	"F10"	"MONDO:0009212"	"congenital factor X deficiency"	"MONDO:0009212"	"congenital factor X deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3528"	"F10"	"MONDO:0009212"	"congenital factor X deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4adcc848-b354-4975-801f-4b55bbca64ad-2019-11-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4adcc848-b354-4975-801f-4b55bbca64ad"	"2024-04-21"
"GENCC_000102-HGNC_3529-MONDO_0012897-HP_0032113-GENCC_100001"	"HGNC:3529"	"F11"	"MONDO:0012897"	"congenital factor XI deficiency"	"MONDO:0012897"	"congenital factor XI deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:3529"	"F11"	"MONDO:0012897"	"congenital factor XI deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a57ba9d9-45c5-48bc-b939-7593f67a86ed-2019-10-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a57ba9d9-45c5-48bc-b939-7593f67a86ed"	"2024-04-21"
"GENCC_000102-HGNC_3530-MONDO_0009315-HP_0000007-GENCC_100001"	"HGNC:3530"	"F12"	"MONDO:0009315"	"congenital factor XII deficiency"	"MONDO:0009315"	"congenital factor XII deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3530"	"F12"	"MONDO:0009315"	"congenital factor XII deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50bbe8d0-4feb-43c7-8573-9d7f85c82e54-2020-01-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"50bbe8d0-4feb-43c7-8573-9d7f85c82e54"	"2024-04-21"
"GENCC_000102-HGNC_3530-MONDO_0012526-HP_0000006-GENCC_100003"	"HGNC:3530"	"F12"	"MONDO:0012526"	"hereditary angioedema type 3"	"MONDO:0012526"	"hereditary angioedema type 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3530"	"F12"	"MONDO:0012526"	"hereditary angioedema type 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40992c9-1172-4528-ab53-95108094d4b6-2022-05-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f40992c9-1172-4528-ab53-95108094d4b6"	"2024-04-21"
"GENCC_000102-HGNC_3531-MONDO_0013187-HP_0000007-GENCC_100001"	"HGNC:3531"	"F13A1"	"MONDO:0013187"	"factor XIII, A subunit, deficiency of"	"MONDO:0013187"	"factor XIII, A subunit, deficiency of"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3531"	"F13A1"	"MONDO:0013187"	"factor XIII, A subunit, deficiency of"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd9321a7-f45d-419e-94ce-101ab545a847-2020-07-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dd9321a7-f45d-419e-94ce-101ab545a847"	"2024-04-21"
"GENCC_000102-HGNC_3534-MONDO_0013190-HP_0000007-GENCC_100001"	"HGNC:3534"	"F13B"	"MONDO:0013190"	"factor XIII, b subunit, deficiency of"	"MONDO:0013190"	"factor XIII, b subunit, deficiency of"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3534"	"F13B"	"MONDO:0013190"	"factor XIII, b subunit, deficiency of"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_403b3588-323c-4103-9207-cc9c8be12281-2020-07-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"403b3588-323c-4103-9207-cc9c8be12281"	"2024-04-21"
"GENCC_000102-HGNC_3535-MONDO_0008559-HP_0000006-GENCC_100001"	"HGNC:3535"	"F2"	"MONDO:0008559"	"thrombophilia due to thrombin defect"	"MONDO:0008559"	"thrombophilia due to thrombin defect"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3535"	"F2"	"MONDO:0008559"	"thrombophilia due to thrombin defect"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6389b3a3-ef86-4588-9be8-eb79dcb8d3cd-2020-06-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6389b3a3-ef86-4588-9be8-eb79dcb8d3cd"	"2024-04-21"
"GENCC_000102-HGNC_3535-MONDO_0013361-HP_0000007-GENCC_100001"	"HGNC:3535"	"F2"	"MONDO:0013361"	"congenital prothrombin deficiency"	"MONDO:0013361"	"congenital prothrombin deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3535"	"F2"	"MONDO:0013361"	"congenital prothrombin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ba9c4b9-9984-4d31-a9ae-bf638838f201-2020-06-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ba9c4b9-9984-4d31-a9ae-bf638838f201"	"2024-04-21"
"GENCC_000102-HGNC_3542-MONDO_0008560-HP_0000006-GENCC_100001"	"HGNC:3542"	"F5"	"MONDO:0008560"	"thrombophilia due to activated protein C resistance"	"MONDO:0008560"	"thrombophilia due to activated protein C resistance"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3542"	"F5"	"MONDO:0008560"	"thrombophilia due to activated protein C resistance"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab28e09c-08ff-4149-a536-3cdb9cc4099f-2019-09-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab28e09c-08ff-4149-a536-3cdb9cc4099f"	"2024-04-21"
"GENCC_000102-HGNC_3542-MONDO_0009210-HP_0000007-GENCC_100001"	"HGNC:3542"	"F5"	"MONDO:0009210"	"congenital factor V deficiency"	"MONDO:0009210"	"congenital factor V deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3542"	"F5"	"MONDO:0009210"	"congenital factor V deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beaa3af3-7d91-4d53-b081-de0e660c16c6-2020-03-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"beaa3af3-7d91-4d53-b081-de0e660c16c6"	"2024-04-21"
"GENCC_000102-HGNC_3544-MONDO_0002244-HP_0000007-GENCC_100001"	"HGNC:3544"	"F7"	"MONDO:0002244"	"factor VII deficiency"	"MONDO:0002244"	"factor VII deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3544"	"F7"	"MONDO:0002244"	"factor VII deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43fb4e99-e97a-4d9c-af11-79c2b09ecd2e-2019-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"43fb4e99-e97a-4d9c-af11-79c2b09ecd2e"	"2024-04-21"
"GENCC_000102-HGNC_3546-MONDO_0010602-HP_0001417-GENCC_100001"	"HGNC:3546"	"F8"	"MONDO:0010602"	"hemophilia A"	"MONDO:0010602"	"hemophilia A"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3546"	"F8"	"MONDO:0010602"	"hemophilia A"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4578f11-b635-45f4-8034-310fca5fe960-2019-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d4578f11-b635-45f4-8034-310fca5fe960"	"2024-04-21"
"GENCC_000102-HGNC_3551-MONDO_0010604-HP_0001417-GENCC_100001"	"HGNC:3551"	"F9"	"MONDO:0010604"	"hemophilia B"	"MONDO:0010604"	"hemophilia B"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3551"	"F9"	"MONDO:0010604"	"hemophilia B"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-22 19:02:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d56d08d-48d0-4523-b433-dbd44c5b9e45-2019-05-22T190226.728Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d56d08d-48d0-4523-b433-dbd44c5b9e45"	"2024-04-21"
"GENCC_000102-HGNC_3551-MONDO_0010432-HP_0001417-GENCC_100004"	"HGNC:3551"	"F9"	"MONDO:0010432"	"thrombophilia, X-linked, due to factor 9 defect"	"MONDO:0010432"	"thrombophilia, X-linked, due to factor 9 defect"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3551"	"F9"	"MONDO:0010432"	"thrombophilia, X-linked, due to factor 9 defect"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b3a7f2c-a07a-4a10-b1f7-78642ebdaa5d-2023-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b3a7f2c-a07a-4a10-b1f7-78642ebdaa5d"	"2024-04-21"
"GENCC_000102-HGNC_3579-MONDO_0010161-HP_0000007-GENCC_100001"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"tyrosinemia type I"	"MONDO:0010161"	"tyrosinemia type I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3579"	"FAH"	"MONDO:0010161"	"tyrosinemia type I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:41:49"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39c50699-f422-4bae-89ac-af13ef7cb8cc-2020-06-29T174149.440Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"39c50699-f422-4bae-89ac-af13ef7cb8cc"	"2024-04-21"
"GENCC_000102-HGNC_29170-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:29170"	"FAN1"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29170"	"FAN1"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-10-23 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9863"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9863"	"2024-04-21"
"GENCC_000102-HGNC_3582-MONDO_0009215-HP_0000007-GENCC_100001"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3582"	"FANCA"	"MONDO:0009215"	"Fanconi anemia complementation group A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ceecf6ee-6700-40e5-a0d3-f7891805daac-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ceecf6ee-6700-40e5-a0d3-f7891805daac"	"2024-04-21"
"GENCC_000102-HGNC_3583-MONDO_0010351-HP_0001417-GENCC_100001"	"HGNC:3583"	"FANCB"	"MONDO:0010351"	"Fanconi anemia complementation group B"	"MONDO:0010351"	"Fanconi anemia complementation group B"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3583"	"FANCB"	"MONDO:0010351"	"Fanconi anemia complementation group B"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb559b04-602e-42cc-aad3-ce634c145c26-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eb559b04-602e-42cc-aad3-ce634c145c26"	"2024-04-21"
"GENCC_000102-HGNC_3584-MONDO_0009213-HP_0000007-GENCC_100001"	"HGNC:3584"	"FANCC"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3584"	"FANCC"	"MONDO:0009213"	"Fanconi anemia complementation group C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf4881c3-15b3-4e10-bd24-2da80433863b-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cf4881c3-15b3-4e10-bd24-2da80433863b"	"2024-04-21"
"GENCC_000102-HGNC_3585-MONDO_0009214-HP_0000007-GENCC_100001"	"HGNC:3585"	"FANCD2"	"MONDO:0009214"	"Fanconi anemia complementation group D2"	"MONDO:0009214"	"Fanconi anemia complementation group D2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3585"	"FANCD2"	"MONDO:0009214"	"Fanconi anemia complementation group D2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-15 23:15:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f0c260f-52d2-4225-9044-608f066ccfb2-2021-06-15T231506.767Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5f0c260f-52d2-4225-9044-608f066ccfb2"	"2024-04-21"
"GENCC_000102-HGNC_3586-MONDO_0010953-HP_0000007-GENCC_100001"	"HGNC:3586"	"FANCE"	"MONDO:0010953"	"Fanconi anemia complementation group E"	"MONDO:0010953"	"Fanconi anemia complementation group E"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3586"	"FANCE"	"MONDO:0010953"	"Fanconi anemia complementation group E"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-14 00:17:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6da55a6e-2cf8-499c-b842-b5a435dbff3f-2020-05-14T001745.604Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6da55a6e-2cf8-499c-b842-b5a435dbff3f"	"2024-04-21"
"GENCC_000102-HGNC_3587-MONDO_0011325-HP_0000007-GENCC_100001"	"HGNC:3587"	"FANCF"	"MONDO:0011325"	"Fanconi anemia complementation group F"	"MONDO:0011325"	"Fanconi anemia complementation group F"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3587"	"FANCF"	"MONDO:0011325"	"Fanconi anemia complementation group F"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-03 22:54:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60719ed8-36fa-4d11-93b2-8036133510a6-2021-02-03T225456.822Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"60719ed8-36fa-4d11-93b2-8036133510a6"	"2024-04-21"
"GENCC_000102-HGNC_3588-MONDO_0013565-HP_0000007-GENCC_100001"	"HGNC:3588"	"FANCG"	"MONDO:0013565"	"Fanconi anemia complementation group G"	"MONDO:0013565"	"Fanconi anemia complementation group G"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3588"	"FANCG"	"MONDO:0013565"	"Fanconi anemia complementation group G"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1913bd10-1355-4067-93b6-9068924d77df-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1913bd10-1355-4067-93b6-9068924d77df"	"2024-04-21"
"GENCC_000102-HGNC_25568-MONDO_0012186-HP_0000007-GENCC_100001"	"HGNC:25568"	"FANCI"	"MONDO:0012186"	"Fanconi anemia complementation group I"	"MONDO:0012186"	"Fanconi anemia complementation group I"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25568"	"FANCI"	"MONDO:0012186"	"Fanconi anemia complementation group I"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-15 23:38:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a103db2f-a8b3-403b-993a-ac4215c118df-2021-06-15T233841.081Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a103db2f-a8b3-403b-993a-ac4215c118df"	"2024-04-21"
"GENCC_000102-HGNC_20748-MONDO_0013566-HP_0000007-GENCC_100001"	"HGNC:20748"	"FANCL"	"MONDO:0013566"	"Fanconi anemia complementation group L"	"MONDO:0013566"	"Fanconi anemia complementation group L"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20748"	"FANCL"	"MONDO:0013566"	"Fanconi anemia complementation group L"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 20:38:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93d0cb5f-4859-4b28-b647-3f8226fe5921-2020-07-30T203845.671Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93d0cb5f-4859-4b28-b647-3f8226fe5921"	"2024-04-21"
"GENCC_000102-HGNC_26222-MONDO_0100230-HP_0000006-GENCC_100003"	"HGNC:26222"	"FAR1"	"MONDO:0100230"	"fatty acyl-CoA reductase 1 upregulation"	"MONDO:0100230"	"fatty acyl-CoA reductase 1 upregulation"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26222"	"FAR1"	"MONDO:0100230"	"fatty acyl-CoA reductase 1 upregulation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-08-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1068b8e8-36a1-4110-9ab4-45f9d4ece894-2021-08-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1068b8e8-36a1-4110-9ab4-45f9d4ece894"	"2024-04-21"
"GENCC_000102-HGNC_26222-MONDO_0014510-HP_0000007-GENCC_100003"	"HGNC:26222"	"FAR1"	"MONDO:0014510"	"fatty acyl-CoA reductase 1 deficiency"	"MONDO:0014510"	"fatty acyl-CoA reductase 1 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26222"	"FAR1"	"MONDO:0014510"	"fatty acyl-CoA reductase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-04-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91f6f864-5d07-4891-94b5-7f73bd71752c-2022-04-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"91f6f864-5d07-4891-94b5-7f73bd71752c"	"2024-04-21"
"GENCC_000102-HGNC_21062-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:21062"	"FARS2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21062"	"FARS2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-11-25 14:47:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf7594a-d934-4b6c-8052-94066d608c5a-2019-11-25T144756.827Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2cf7594a-d934-4b6c-8052-94066d608c5a"	"2024-04-21"
"GENCC_000102-HGNC_29160-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:29160"	"FASTKD2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29160"	"FASTKD2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82883e8c-7ee6-447e-bdc6-8898c4848e7a-2022-07-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82883e8c-7ee6-447e-bdc6-8898c4848e7a"	"2024-04-21"
"GENCC_000102-HGNC_3601-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:3601"	"FBLN2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3601"	"FBLN2"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d463eb0-c4b1-4f3c-bccf-86ec41c0fa68-2023-11-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6d463eb0-c4b1-4f3c-bccf-86ec41c0fa68"	"2024-04-21"
"GENCC_000102-HGNC_3601-MONDO_0015924-HP_0000006-GENCC_100004"	"HGNC:3601"	"FBLN2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3601"	"FBLN2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db9581b7-ed36-4995-aebc-839225dd0666-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db9581b7-ed36-4995-aebc-839225dd0666"	"2024-04-21"
"GENCC_000102-HGNC_3602-MONDO_0018776-HP_0000006-GENCC_100003"	"HGNC:3602"	"FBLN5"	"MONDO:0018776"	"demyelinating hereditary motor and sensory neuropathy"	"MONDO:0018776"	"demyelinating hereditary motor and sensory neuropathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3602"	"FBLN5"	"MONDO:0018776"	"demyelinating hereditary motor and sensory neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-11-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a863341a-9dcf-4a4f-a82d-7edb5e63fe92-2023-11-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a863341a-9dcf-4a4f-a82d-7edb5e63fe92"	"2024-04-21"
"GENCC_000102-HGNC_3603-MONDO_0019625-HP_0000006-GENCC_100001"	"HGNC:3603"	"FBN1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3603"	"FBN1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-01-23 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8251"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8251"	"2024-04-21"
"GENCC_000102-HGNC_3603-MONDO_0008426-HP_0000006-GENCC_100005"	"HGNC:3603"	"FBN1"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3603"	"FBN1"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-12-01 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42caf14d-6400-475b-88f3-a8a24a0832c0-2021-12-01T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"42caf14d-6400-475b-88f3-a8a24a0832c0"	"2024-04-21"
"GENCC_000102-HGNC_3603-MONDO_0007947-HP_0000006-GENCC_100001"	"HGNC:3603"	"FBN1"	"MONDO:0007947"	"Marfan syndrome"	"MONDO:0007947"	"Marfan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3603"	"FBN1"	"MONDO:0007947"	"Marfan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3fc0bea-4d6e-449e-885c-b204e6a0b2bf-2019-03-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d3fc0bea-4d6e-449e-885c-b204e6a0b2bf"	"2024-04-21"
"GENCC_000102-HGNC_3604-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:3604"	"FBN2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3604"	"FBN2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8268"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8268"	"2024-04-21"
"GENCC_000102-HGNC_13601-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:13601"	"FBXL4"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13601"	"FBXL4"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-23 19:31:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fed67104-182c-48f2-85c0-ecb05cd6dd72-2020-11-23T193117.246Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fed67104-182c-48f2-85c0-ecb05cd6dd72"	"2024-04-21"
"GENCC_000102-HGNC_28844-MONDO_0018894-HP_0000006-GENCC_100003"	"HGNC:28844"	"FBXO38"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28844"	"FBXO38"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_350c1f45-5afd-4f36-8973-94acaf7bb961-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"350c1f45-5afd-4f36-8973-94acaf7bb961"	"2024-04-21"
"GENCC_000102-HGNC_29002-MONDO_0030898-HP_0000007-GENCC_100001"	"HGNC:29002"	"FCHO1"	"MONDO:0030898"	"immunodeficiency 76"	"MONDO:0030898"	"immunodeficiency 76"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29002"	"FCHO1"	"MONDO:0030898"	"immunodeficiency 76"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae21f2b2-e283-404b-9517-74fad00a352a-2023-07-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ae21f2b2-e283-404b-9517-74fad00a352a"	"2024-04-21"
"GENCC_000102-HGNC_3647-MONDO_0008319-HP_0000007-GENCC_100001"	"HGNC:3647"	"FECH"	"MONDO:0008319"	"protoporphyria, erythropoietic, 1"	"MONDO:0008319"	"protoporphyria, erythropoietic, 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3647"	"FECH"	"MONDO:0008319"	"protoporphyria, erythropoietic, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-27 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1b6529d-0a99-4ffd-9bbf-6bc15d76cb10-2023-01-27T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1b6529d-0a99-4ffd-9bbf-6bc15d76cb10"	"2024-04-21"
"GENCC_000102-HGNC_23151-MONDO_0013016-HP_0000007-GENCC_100001"	"HGNC:23151"	"FERMT3"	"MONDO:0013016"	"leukocyte adhesion deficiency 3"	"MONDO:0013016"	"leukocyte adhesion deficiency 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23151"	"FERMT3"	"MONDO:0013016"	"leukocyte adhesion deficiency 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-08-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df792161-5efb-45f7-91ed-5fe76045fa06-2019-08-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"df792161-5efb-45f7-91ed-5fe76045fa06"	"2024-04-21"
"GENCC_000102-HGNC_3661-MONDO_0018060-HP_0032113-GENCC_100001"	"HGNC:3661"	"FGA"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:3661"	"FGA"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d34ded98-dbf7-4dc7-bea4-803db1857bf8-2020-01-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d34ded98-dbf7-4dc7-bea4-803db1857bf8"	"2024-04-21"
"GENCC_000102-HGNC_3662-MONDO_0018060-HP_0032113-GENCC_100001"	"HGNC:3662"	"FGB"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:3662"	"FGB"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_638c1588-9674-4bc3-a39c-2fc8f8b0ef09-2020-01-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"638c1588-9674-4bc3-a39c-2fc8f8b0ef09"	"2024-04-21"
"GENCC_000102-HGNC_3663-MONDO_0010589-HP_0001417-GENCC_100001"	"HGNC:3663"	"FGD1"	"MONDO:0010589"	"Aarskog-Scott syndrome, X-linked"	"MONDO:0010589"	"Aarskog-Scott syndrome, X-linked"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3663"	"FGD1"	"MONDO:0010589"	"Aarskog-Scott syndrome, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b652280-1291-4166-ac59-62caabd977bb-2017-12-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4b652280-1291-4166-ac59-62caabd977bb"	"2024-04-21"
"GENCC_000102-HGNC_19125-MONDO_0015626-HP_0000007-GENCC_100001"	"HGNC:19125"	"FGD4"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19125"	"FGD4"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-14 13:18:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0aae8cd-9d57-4d8c-83ae-ed968cf186bc-2020-04-14T131822.010Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e0aae8cd-9d57-4d8c-83ae-ed968cf186bc"	"2024-04-21"
"GENCC_000102-HGNC_3668-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:3668"	"FGF12"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3668"	"FGF12"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54324da6-e7c7-4ad2-a669-d8ccd1a6b71a-2023-11-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"54324da6-e7c7-4ad2-a669-d8ccd1a6b71a"	"2024-04-21"
"GENCC_000102-HGNC_3681-MONDO_0012541-HP_0000007-GENCC_100001"	"HGNC:3681"	"FGF3"	"MONDO:0012541"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"MONDO:0012541"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3681"	"FGF3"	"MONDO:0012541"	"deafness with labyrinthine aplasia, microtia, and microdontia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ca11e8c-6703-4be5-a8c2-82e6dcc865e4-2019-05-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5ca11e8c-6703-4be5-a8c2-82e6dcc865e4"	"2024-04-21"
"GENCC_000102-HGNC_3688-MONDO_0019659-HP_0000006-GENCC_100001"	"HGNC:3688"	"FGFR1"	"MONDO:0019659"	"Pfeiffer syndrome type 1"	"MONDO:0019659"	"Pfeiffer syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3688"	"FGFR1"	"MONDO:0019659"	"Pfeiffer syndrome type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-21 22:44:33"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fef65d0-f73c-45fe-968e-86073674cb7e-2021-05-21T224433.397Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4fef65d0-f73c-45fe-968e-86073674cb7e"	"2024-04-21"
"GENCC_000102-HGNC_3688-MONDO_0008150-HP_0000006-GENCC_100004"	"HGNC:3688"	"FGFR1"	"MONDO:0008150"	"osteoglophonic dwarfism"	"MONDO:0008150"	"osteoglophonic dwarfism"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3688"	"FGFR1"	"MONDO:0008150"	"osteoglophonic dwarfism"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-03-22 20:35:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d958e743-2ca0-4bb9-a198-364dd58005c3-2021-03-22T203501.315Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d958e743-2ca0-4bb9-a198-364dd58005c3"	"2024-04-21"
"GENCC_000102-HGNC_3688-MONDO_0014196-HP_0000006-GENCC_100003"	"HGNC:3688"	"FGFR1"	"MONDO:0014196"	"Hartsfield-Bixler-Demyer syndrome"	"MONDO:0014196"	"Hartsfield-Bixler-Demyer syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3688"	"FGFR1"	"MONDO:0014196"	"Hartsfield-Bixler-Demyer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-03-16 23:55:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec5034c6-70cb-4ba3-bbb9-f65f6cad393d-2021-03-16T235509.401Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ec5034c6-70cb-4ba3-bbb9-f65f6cad393d"	"2024-04-21"
"GENCC_000102-HGNC_3689-MONDO_0007041-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0007041"	"Apert syndrome"	"MONDO:0007041"	"Apert syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3689"	"FGFR2"	"MONDO:0007041"	"Apert syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-14 22:11:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2aa63602-d820-4fee-893b-b807e7b62f28-2021-12-14T221137.192Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2aa63602-d820-4fee-893b-b807e7b62f28"	"2024-04-21"
"GENCC_000102-HGNC_3689-MONDO_0007412-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0007412"	"Beare-Stevenson cutis gyrata syndrome"	"MONDO:0007412"	"Beare-Stevenson cutis gyrata syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3689"	"FGFR2"	"MONDO:0007412"	"Beare-Stevenson cutis gyrata syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-31 16:37:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7805e806-44ee-4339-a078-d62c204bff00-2022-03-31T163711.748Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7805e806-44ee-4339-a078-d62c204bff00"	"2024-04-21"
"GENCC_000102-HGNC_3689-MONDO_0007405-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0007405"	"Crouzon syndrome"	"MONDO:0007405"	"Crouzon syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3689"	"FGFR2"	"MONDO:0007405"	"Crouzon syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-23 16:53:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2cfa70a-750f-4357-98b9-f5c30ca4dc26-2021-12-23T165345.170Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c2cfa70a-750f-4357-98b9-f5c30ca4dc26"	"2024-04-21"
"GENCC_000102-HGNC_3689-MONDO_0007043-HP_0000006-GENCC_100001"	"HGNC:3689"	"FGFR2"	"MONDO:0007043"	"Pfeiffer syndrome"	"MONDO:0007043"	"Pfeiffer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3689"	"FGFR2"	"MONDO:0007043"	"Pfeiffer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-21 21:09:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eccfe56b-15d7-4ba9-abf2-163dfd3dab3c-2022-03-21T210958.425Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eccfe56b-15d7-4ba9-abf2-163dfd3dab3c"	"2024-04-21"
"GENCC_000102-HGNC_3690-MONDO_0007037-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0007037"	"achondroplasia"	"MONDO:0007037"	"achondroplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3690"	"FGFR3"	"MONDO:0007037"	"Achondroplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0adafa1b-e609-4b99-8e90-f73473b70771-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0adafa1b-e609-4b99-8e90-f73473b70771"	"2024-04-21"
"GENCC_000102-HGNC_3690-MONDO_0008547-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0008547"	"thanatophoric dysplasia type 2"	"MONDO:0008547"	"thanatophoric dysplasia type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3690"	"FGFR3"	"MONDO:0008547"	"thanatophoric dysplasia type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-31 17:09:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d5f870f-048e-4741-b5e0-2fcf70ed1b88-2022-01-31T170913.018Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d5f870f-048e-4741-b5e0-2fcf70ed1b88"	"2024-04-21"
"GENCC_000102-HGNC_3690-MONDO_0007793-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0007793"	"hypochondroplasia"	"MONDO:0007793"	"hypochondroplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3690"	"FGFR3"	"MONDO:0007793"	"hypochondroplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_518a0eb2-f7ea-40e8-acad-afc34f5b188e-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"518a0eb2-f7ea-40e8-acad-afc34f5b188e"	"2024-04-21"
"GENCC_000102-HGNC_3690-MONDO_0012504-HP_0032113-GENCC_100003"	"HGNC:3690"	"FGFR3"	"MONDO:0012504"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"MONDO:0012504"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:3690"	"FGFR3"	"MONDO:0012504"	"camptodactyly-tall stature-scoliosis-hearing loss syndrome"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90130560-3e24-46a9-beaa-c67792773d3d-2022-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"90130560-3e24-46a9-beaa-c67792773d3d"	"2024-04-21"
"GENCC_000102-HGNC_3690-MONDO_0012833-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0012833"	"Crouzon syndrome-acanthosis nigricans syndrome"	"MONDO:0012833"	"Crouzon syndrome-acanthosis nigricans syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3690"	"FGFR3"	"MONDO:0012833"	"Crouzon syndrome-acanthosis nigricans syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98727c21-26dd-4e65-b75e-8ec82d95ba97-2021-11-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"98727c21-26dd-4e65-b75e-8ec82d95ba97"	"2024-04-21"
"GENCC_000102-HGNC_3690-MONDO_0014658-HP_0000006-GENCC_100003"	"HGNC:3690"	"FGFR3"	"MONDO:0014658"	"severe achondroplasia-developmental delay-acanthosis nigricans syndrome"	"MONDO:0014658"	"severe achondroplasia-developmental delay-acanthosis nigricans syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3690"	"FGFR3"	"MONDO:0014658"	"severe achondroplasia-developmental delay-acanthosis nigricans syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7daa910-8226-46cc-8a65-034c0833d9cc-2022-05-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7daa910-8226-46cc-8a65-034c0833d9cc"	"2024-04-21"
"GENCC_000102-HGNC_3690-MONDO_0008546-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0008546"	"thanatophoric dysplasia type 1"	"MONDO:0008546"	"thanatophoric dysplasia type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3690"	"FGFR3"	"MONDO:0008546"	"thanatophoric dysplasia type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-23 22:18:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db0459d9-c5cc-455d-a6b2-e6ea81511336-2021-12-23T221850.458Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db0459d9-c5cc-455d-a6b2-e6ea81511336"	"2024-04-21"
"GENCC_000102-HGNC_3690-MONDO_0011274-HP_0000006-GENCC_100001"	"HGNC:3690"	"FGFR3"	"MONDO:0011274"	"Muenke syndrome"	"MONDO:0011274"	"Muenke syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3690"	"FGFR3"	"MONDO:0011274"	"Muenke syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-29 17:20:23"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e94c1870-5413-4f75-8925-8bea54199d47-2022-03-29T172023.530Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e94c1870-5413-4f75-8925-8bea54199d47"	"2024-04-21"
"GENCC_000102-HGNC_3694-MONDO_0018060-HP_0032113-GENCC_100001"	"HGNC:3694"	"FGG"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:3694"	"FGG"	"MONDO:0018060"	"congenital fibrinogen deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-23 17:33:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9ef37f0f-a5ae-402c-b319-7f7d731ecbb1-2020-01-23T173301.596Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9ef37f0f-a5ae-402c-b319-7f7d731ecbb1"	"2024-04-21"
"GENCC_000102-HGNC_3700-MONDO_0007888-HP_0000006-GENCC_100001"	"HGNC:3700"	"FH"	"MONDO:0007888"	"hereditary leiomyomatosis and renal cell cancer"	"MONDO:0007888"	"hereditary leiomyomatosis and renal cell cancer"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3700"	"FH"	"MONDO:0007888"	"hereditary leiomyomatosis and renal cell cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-14 00:23:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59e42ccd-2b0b-441c-8529-6eb1e9dde330-2020-05-14T002334.007Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"59e42ccd-2b0b-441c-8529-6eb1e9dde330"	"2024-04-21"
"GENCC_000102-HGNC_16873-MONDO_0015626-HP_0000007-GENCC_100001"	"HGNC:16873"	"FIG4"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16873"	"FIG4"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-23 00:35:44"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbc44812-5fe4-4e11-ac89-58e4175d4463-2021-09-23T003544.594Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cbc44812-5fe4-4e11-ac89-58e4175d4463"	"2024-04-21"
"GENCC_000102-HGNC_16873-MONDO_0012945-HP_0000006-GENCC_100004"	"HGNC:16873"	"FIG4"	"MONDO:0012945"	"amyotrophic lateral sclerosis type 11"	"MONDO:0012945"	"amyotrophic lateral sclerosis type 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16873"	"FIG4"	"MONDO:0012945"	"amyotrophic lateral sclerosis type 11"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-08-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d038fb84-1f98-4047-b6c5-039a53756775-2022-08-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d038fb84-1f98-4047-b6c5-039a53756775"	"2024-04-21"
"GENCC_000102-HGNC_16135-MONDO_0032842-HP_0000007-GENCC_100001"	"HGNC:16135"	"FITM2"	"MONDO:0032842"	"Siddiqi syndrome"	"MONDO:0032842"	"Siddiqi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16135"	"FITM2"	"MONDO:0032842"	"Siddiqi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a18aeda-fbe1-49b3-9542-6402ea61b4c0-2022-10-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0a18aeda-fbe1-49b3-9542-6402ea61b4c0"	"2024-04-21"
"GENCC_000102-HGNC_17997-MONDO_0700066-HP_0000007-GENCC_100001"	"HGNC:17997"	"FKRP"	"MONDO:0700066"	"myopathy caused by variation in FKRP"	"MONDO:0700066"	"myopathy caused by variation in FKRP"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17997"	"FKRP"	"MONDO:0700066"	"myopathy caused by variation in FKRP"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-20 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6cb46400-ca4b-48cd-aaf7-dd493f0d2971-2023-06-20T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6cb46400-ca4b-48cd-aaf7-dd493f0d2971"	"2024-04-21"
"GENCC_000102-HGNC_3622-MONDO_0700067-HP_0000007-GENCC_100001"	"HGNC:3622"	"FKTN"	"MONDO:0700067"	"myopathy caused by variation in FKTN"	"MONDO:0700067"	"myopathy caused by variation in FKTN"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3622"	"FKTN"	"MONDO:0700067"	"myopathy caused by variation in FKTN"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54e23f1a-3b1b-49ef-aa02-6b46374b1546-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"54e23f1a-3b1b-49ef-aa02-6b46374b1546"	"2024-04-21"
"GENCC_000102-HGNC_24671-MONDO_0009703-HP_0000007-GENCC_100001"	"HGNC:24671"	"FLAD1"	"MONDO:0009703"	"myopathy with abnormal lipid metabolism"	"MONDO:0009703"	"myopathy with abnormal lipid metabolism"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24671"	"FLAD1"	"MONDO:0009703"	"myopathy with abnormal lipid metabolism"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-16 18:19:02"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_769764bf-09c5-4a7d-8501-5fcf154fcdda-2020-12-16T181902.981Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"769764bf-09c5-4a7d-8501-5fcf154fcdda"	"2024-04-21"
"GENCC_000102-HGNC_27310-MONDO_0007607-HP_0000006-GENCC_100001"	"HGNC:27310"	"FLCN"	"MONDO:0007607"	"Birt-Hogg-Dube syndrome"	"MONDO:0007607"	"Birt-Hogg-Dube syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:27310"	"FLCN"	"MONDO:0007607"	"obsolete Birt-Hogg-Dube syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c96620e8-f9c9-41a0-a979-31fb9928abb6-2019-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c96620e8-f9c9-41a0-a979-31fb9928abb6"	"2024-04-21"
"GENCC_000102-HGNC_3749-MONDO_0054577-HP_0000006-GENCC_100003"	"HGNC:3749"	"FLI1"	"MONDO:0054577"	"bleeding disorder, platelet-type, 21"	"MONDO:0054577"	"bleeding disorder, platelet-type, 21"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3749"	"FLI1"	"MONDO:0054577"	"bleeding disorder, platelet-type, 21"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-04-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd0eaa15-3ee7-4db7-9920-c380757ece33-2021-04-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dd0eaa15-3ee7-4db7-9920-c380757ece33"	"2024-04-21"
"GENCC_000102-HGNC_3754-MONDO_0019625-HP_0001417-GENCC_100004"	"HGNC:3754"	"FLNA"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3754"	"FLNA"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8274"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8274"	"2024-04-21"
"GENCC_000102-HGNC_3754-MONDO_0020341-HP_0001417-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0020341"	"periventricular nodular heterotopia"	"MONDO:0020341"	"periventricular nodular heterotopia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3754"	"FLNA"	"MONDO:0020341"	"periventricular nodular heterotopia"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-27 23:11:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80bc6280-7c21-4168-8a98-93c31fead5d7-2020-12-27T231155.213Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"80bc6280-7c21-4168-8a98-93c31fead5d7"	"2024-04-21"
"GENCC_000102-HGNC_3756-MONDO_0012289-HP_0000006-GENCC_100001"	"HGNC:3756"	"FLNC"	"MONDO:0012289"	"myofibrillar myopathy 5"	"MONDO:0012289"	"myofibrillar myopathy 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3756"	"FLNC"	"MONDO:0012289"	"myofibrillar myopathy 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10057"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10057"	"2024-04-21"
"GENCC_000102-HGNC_3756-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:3756"	"FLNC"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3756"	"FLNC"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edb5197f-05dc-42a4-a497-fff472985c6b-2020-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"edb5197f-05dc-42a4-a497-fff472985c6b"	"2024-04-21"
"GENCC_000102-HGNC_3767-MONDO_0007919-HP_0000006-GENCC_100001"	"HGNC:3767"	"FLT4"	"MONDO:0007919"	"lymphatic malformation 1"	"MONDO:0007919"	"lymphatic malformation 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3767"	"FLT4"	"MONDO:0007919"	"lymphatic malformation 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_623ef8f5-43ba-43e2-9c2d-fd44e87d6946-2022-12-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"623ef8f5-43ba-43e2-9c2d-fd44e87d6946"	"2024-04-21"
"GENCC_000102-HGNC_24682-MONDO_0100449-HP_0000007-GENCC_100001"	"HGNC:24682"	"FLVCR1"	"MONDO:0100449"	"FLVCR1-related retinopathy with or without ataxia"	"MONDO:0100449"	"FLVCR1-related retinopathy with or without ataxia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24682"	"FLVCR1"	"MONDO:0100449"	"FLVCR1-related retinopathy with or without ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e53e1a9-b1b9-4617-be3a-012399a06ef6-2021-08-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7e53e1a9-b1b9-4617-be3a-012399a06ef6"	"2024-04-21"
"GENCC_000102-HGNC_3771-MONDO_0011182-HP_0000007-GENCC_100001"	"HGNC:3771"	"FMO3"	"MONDO:0011182"	"trimethylaminuria"	"MONDO:0011182"	"trimethylaminuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3771"	"FMO3"	"MONDO:0011182"	"trimethylaminuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-14 18:47:18"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18ed3960-c745-46f1-aecc-155e713d6ef5-2020-08-14T184718.502Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"18ed3960-c745-46f1-aecc-155e713d6ef5"	"2024-04-21"
"GENCC_000102-HGNC_3773-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:3773"	"FMO5"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3773"	"FMO5"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-11-27 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db8f477a-e653-4f3f-be67-c804228380f7-2023-11-27T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db8f477a-e653-4f3f-be67-c804228380f7"	"2024-04-21"
"GENCC_000102-HGNC_3775-MONDO_0010383-HP_0001417-GENCC_100001"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"fragile X syndrome"	"MONDO:0010383"	"fragile X syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:3775"	"FMR1"	"MONDO:0010383"	"fragile X syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e491d278-7123-434c-8de3-46e16afb4037-2019-06-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e491d278-7123-434c-8de3-46e16afb4037"	"2024-04-21"
"GENCC_000102-HGNC_3778-MONDO_0008479-HP_0000006-GENCC_100001"	"HGNC:3778"	"FN1"	"MONDO:0008479"	"spondylometaphyseal dysplasia, 'corner fracture' type"	"MONDO:0008479"	"spondylometaphyseal dysplasia, 'corner fracture' type"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3778"	"FN1"	"MONDO:0008479"	"spondylometaphyseal dysplasia, 'corner fracture' type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33f71829-1d1a-4d34-b2ff-1df63ec5d0b5-2024-03-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"33f71829-1d1a-4d34-b2ff-1df63ec5d0b5"	"2024-04-21"
"GENCC_000102-HGNC_3778-MONDO_0011165-HP_0000006-GENCC_100003"	"HGNC:3778"	"FN1"	"MONDO:0011165"	"glomerulopathy with fibronectin deposits 2"	"MONDO:0011165"	"glomerulopathy with fibronectin deposits 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3778"	"FN1"	"MONDO:0011165"	"glomerulopathy with fibronectin deposits 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ffbb09f-bf2d-4d76-9176-4961ce8862e9-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ffbb09f-bf2d-4d76-9176-4961ce8862e9"	"2024-04-21"
"GENCC_000102-HGNC_29418-MONDO_0100432-HP_0000007-GENCC_100002"	"HGNC:29418"	"FNIP1"	"MONDO:0100432"	"FNIP1-associated syndrome"	"MONDO:0100432"	"FNIP1-associated syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29418"	"FNIP1"	"MONDO:0100432"	"FNIP1-associated syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2021-12-06 13:14:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25c930ed-965b-47ae-b9c2-7157b06cb868-2021-12-06T131417.148Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"25c930ed-965b-47ae-b9c2-7157b06cb868"	"2024-04-21"
"GENCC_000102-HGNC_3791-MONDO_0013110-HP_0000007-GENCC_100001"	"HGNC:3791"	"FOLR1"	"MONDO:0013110"	"neurodegenerative syndrome due to cerebral folate transport deficiency"	"MONDO:0013110"	"neurodegenerative syndrome due to cerebral folate transport deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3791"	"FOLR1"	"MONDO:0013110"	"neurodegenerative syndrome due to cerebral folate transport deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22c12588-dc55-4e90-827a-d7a6349e38a9-2017-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"22c12588-dc55-4e90-827a-d7a6349e38a9"	"2024-04-21"
"GENCC_000102-HGNC_5022-MONDO_0013099-HP_0000006-GENCC_100003"	"HGNC:5022"	"FOXA2"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5022"	"FOXA2"	"MONDO:0013099"	"combined pituitary hormone deficiencies, genetic form"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-22 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a995738-1ea3-454b-b92f-251d4b21d530-2022-11-22T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8a995738-1ea3-454b-b92f-251d4b21d530"	"2024-04-21"
"GENCC_000102-HGNC_3800-MONDO_0024456-HP_0000006-GENCC_100001"	"HGNC:3800"	"FOXC1"	"MONDO:0024456"	"anterior segment dysgenesis 3"	"MONDO:0024456"	"anterior segment dysgenesis 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3800"	"FOXC1"	"MONDO:0024456"	"anterior segment dysgenesis 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-15 03:12:46"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2271229-84ea-4aff-81b4-3428c173ed7b-2021-12-15T031246.818Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b2271229-84ea-4aff-81b4-3428c173ed7b"	"2024-04-21"
"GENCC_000102-HGNC_3801-MONDO_0007922-HP_0000006-GENCC_100001"	"HGNC:3801"	"FOXC2"	"MONDO:0007922"	"lymphedema-distichiasis syndrome"	"MONDO:0007922"	"lymphedema-distichiasis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3801"	"FOXC2"	"MONDO:0007922"	"lymphedema-distichiasis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-24 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_757840b2-8b39-44d0-aff9-dd9983e77d0f-2024-01-24T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"757840b2-8b39-44d0-aff9-dd9983e77d0f"	"2024-04-21"
"GENCC_000102-HGNC_3804-MONDO_0019172-HP_0000006-GENCC_100005"	"HGNC:3804"	"FOXD3"	"MONDO:0019172"	"aniridia"	"MONDO:0019172"	"aniridia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3804"	"FOXD3"	"MONDO:0019172"	"aniridia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4b3b44d-26d8-4519-9d0d-2259022e79c6-2022-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d4b3b44d-26d8-4519-9d0d-2259022e79c6"	"2024-04-21"
"GENCC_000102-HGNC_3808-MONDO_0019625-HP_0000006-GENCC_100003"	"HGNC:3808"	"FOXE3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3808"	"FOXE3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2016-06-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8261"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8261"	"2024-04-21"
"GENCC_000102-HGNC_3811-MONDO_0100040-HP_0000006-GENCC_100001"	"HGNC:3811"	"FOXG1"	"MONDO:0100040"	"FOXG1 disorder"	"MONDO:0100040"	"FOXG1 disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3811"	"FOXG1"	"MONDO:0100040"	"FOXG1 disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-02 14:08:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f14c6c5-b051-4c94-b9c6-3b80771eed22-2018-07-02T140827.839Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3f14c6c5-b051-4c94-b9c6-3b80771eed22"	"2024-04-21"
"GENCC_000102-HGNC_3815-MONDO_0005365-HP_0000007-GENCC_100004"	"HGNC:3815"	"FOXI1"	"MONDO:0005365"	"hearing loss disorder"	"MONDO:0005365"	"hearing loss disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3815"	"FOXI1"	"MONDO:0005365"	"hearing loss disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-03-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bb41557-8ccc-4084-b4b0-d4ede42d8f36-2022-03-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0bb41557-8ccc-4084-b4b0-d4ede42d8f36"	"2024-04-21"
"GENCC_000102-HGNC_3815-MONDO_0023069-HP_0000007-GENCC_100005"	"HGNC:3815"	"FOXI1"	"MONDO:0023069"	"enlarged vestibular aqueduct syndrome"	"MONDO:0023069"	"enlarged vestibular aqueduct syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3815"	"FOXI1"	"MONDO:0023069"	"enlarged vestibular aqueduct syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3a6b8fa-01d1-4f32-a45e-9c9582e14280-2018-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d3a6b8fa-01d1-4f32-a45e-9c9582e14280"	"2024-04-21"
"GENCC_000102-HGNC_3816-MONDO_0032874-HP_0000006-GENCC_100002"	"HGNC:3816"	"FOXJ1"	"MONDO:0032874"	"ciliary dyskinesia, primary, 43"	"MONDO:0032874"	"ciliary dyskinesia, primary, 43"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3816"	"FOXJ1"	"MONDO:0032874"	"ciliary dyskinesia, primary, 43"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-07-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53a48f3c-42fc-4c60-becb-149019b1e4bf-2022-07-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"53a48f3c-42fc-4c60-becb-149019b1e4bf"	"2024-04-21"
"GENCC_000102-HGNC_3817-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:3817"	"FOXL1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3817"	"FOXL1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-11-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e6540a7-3e81-47b1-a74f-7d0328f34ce1-2023-11-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7e6540a7-3e81-47b1-a74f-7d0328f34ce1"	"2024-04-21"
"GENCC_000102-HGNC_12765-MONDO_0011132-HP_0032113-GENCC_100001"	"HGNC:12765"	"FOXN1"	"MONDO:0011132"	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	"MONDO:0011132"	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:12765"	"FOXN1"	"MONDO:0011132"	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-05 18:16:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4518c986-fb1d-4f9a-a24a-ab38891a0162-2021-11-05T181626.460Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4518c986-fb1d-4f9a-a24a-ab38891a0162"	"2024-04-21"
"GENCC_000102-HGNC_3823-MONDO_0013352-HP_0000006-GENCC_100001"	"HGNC:3823"	"FOXP1"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3823"	"FOXP1"	"MONDO:0013352"	"intellectual disability-severe speech delay-mild dysmorphism syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-09 16:27:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db1c240c-7ffb-4a95-92ad-da9e8af2adc6-2019-05-09T162756.956Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"db1c240c-7ffb-4a95-92ad-da9e8af2adc6"	"2024-04-21"
"GENCC_000102-HGNC_3823-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:3823"	"FOXP1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3823"	"FOXP1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-12-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0d2a272-afc2-49df-aa73-0b2f82ce11d6-2023-12-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e0d2a272-afc2-49df-aa73-0b2f82ce11d6"	"2024-04-21"
"GENCC_000102-HGNC_13875-MONDO_0016226-HP_0000006-GENCC_100001"	"HGNC:13875"	"FOXP2"	"MONDO:0016226"	"specific language disorder"	"MONDO:0016226"	"specific language disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13875"	"FOXP2"	"MONDO:0016226"	"specific language disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b13348d1-1248-4507-aa29-60559e6b410e-2019-05-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b13348d1-1248-4507-aa29-60559e6b410e"	"2024-04-21"
"GENCC_000102-HGNC_26927-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:26927"	"FOXRED1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26927"	"FOXRED1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-10-16 14:34:53"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c74ba0cb-ccef-4a19-9fef-ef9996f72290-2019-10-16T143453.574Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c74ba0cb-ccef-4a19-9fef-ef9996f72290"	"2024-04-21"
"GENCC_000102-HGNC_26927-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:26927"	"FOXRED1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26927"	"FOXRED1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb90cbcf-435a-40fc-8ba8-d1c6314b4733-2023-08-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eb90cbcf-435a-40fc-8ba8-d1c6314b4733"	"2024-04-21"
"GENCC_000102-HGNC_19185-MONDO_0009046-HP_0000007-GENCC_100001"	"HGNC:19185"	"FRAS1"	"MONDO:0009046"	"Fraser syndrome"	"MONDO:0009046"	"Fraser syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19185"	"FRAS1"	"MONDO:0009046"	"Fraser syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1303854d-356f-4295-85c3-ec2c6cbf6e4b-2022-10-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1303854d-356f-4295-85c3-ec2c6cbf6e4b"	"2024-04-21"
"GENCC_000102-HGNC_29007-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:29007"	"FRMPD4"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:29007"	"FRMPD4"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdc39072-6ab1-4ec6-af69-ce7a2f874f1b-2022-11-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bdc39072-6ab1-4ec6-af69-ce7a2f874f1b"	"2024-04-21"
"GENCC_000102-HGNC_13254-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:13254"	"FTSJ1"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:13254"	"FTSJ1"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bc0312a-eb44-4d79-8816-d9ef685e2c8c-2023-02-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1bc0312a-eb44-4d79-8816-d9ef685e2c8c"	"2024-04-21"
"GENCC_000102-HGNC_4006-MONDO_0009254-HP_0000007-GENCC_100001"	"HGNC:4006"	"FUCA1"	"MONDO:0009254"	"fucosidosis"	"MONDO:0009254"	"fucosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4006"	"FUCA1"	"MONDO:0009254"	"fucosidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e88e0ef6-e788-40e2-bbd4-7fb3efb6b0ea-2022-08-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e88e0ef6-e788-40e2-bbd4-7fb3efb6b0ea"	"2024-04-21"
"GENCC_000102-HGNC_4010-MONDO_0011951-HP_0000006-GENCC_100001"	"HGNC:4010"	"FUS"	"MONDO:0011951"	"amyotrophic lateral sclerosis type 6"	"MONDO:0011951"	"amyotrophic lateral sclerosis type 6"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4010"	"FUS"	"MONDO:0011951"	"amyotrophic lateral sclerosis type 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-12 18:36:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2e8f55b-371e-438f-8923-73ca9b7ec034-2021-10-12T183601.087Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b2e8f55b-371e-438f-8923-73ca9b7ec034"	"2024-04-21"
"GENCC_000102-HGNC_3951-MONDO_0100339-HP_0000007-GENCC_100001"	"HGNC:3951"	"FXN"	"MONDO:0100339"	"Friedreich ataxia"	"MONDO:0100339"	"Friedreich ataxia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3951"	"FXN"	"MONDO:0100339"	"Friedreich ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec3f674b-1e71-4254-a0f9-f8909becff59-2017-12-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ec3f674b-1e71-4254-a0f9-f8909becff59"	"2024-04-21"
"GENCC_000102-HGNC_4026-MONDO_0007937-HP_0000006-GENCC_100003"	"HGNC:4026"	"FXYD2"	"MONDO:0007937"	"renal hypomagnesemia 2"	"MONDO:0007937"	"renal hypomagnesemia 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4026"	"FXYD2"	"MONDO:0007937"	"renal hypomagnesemia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef2e6fc-52d8-4077-a5c9-0f70bbebea36-2023-06-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aef2e6fc-52d8-4077-a5c9-0f70bbebea36"	"2024-04-21"
"GENCC_000102-HGNC_4036-MONDO_0010120-HP_0000007-GENCC_100003"	"HGNC:4036"	"FYB1"	"MONDO:0010120"	"thrombocytopenia 3"	"MONDO:0010120"	"thrombocytopenia 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4036"	"FYB1"	"MONDO:0010120"	"thrombocytopenia 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-02-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e4e83fb-516b-43f8-a0af-687b9d938f74-2024-02-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0e4e83fb-516b-43f8-a0af-687b9d938f74"	"2024-04-21"
"GENCC_000102-HGNC_4042-MONDO_0019516-HP_0000006-GENCC_100001"	"HGNC:4042"	"FZD4"	"MONDO:0019516"	"exudative vitreoretinopathy"	"MONDO:0019516"	"exudative vitreoretinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4042"	"FZD4"	"MONDO:0019516"	"exudative vitreoretinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-04-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2da74e15-54c4-405c-aa44-301f4717087d-2024-04-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2da74e15-54c4-405c-aa44-301f4717087d"	"2024-04-21"
"GENCC_000102-HGNC_4057-MONDO_0005775-HP_0001417-GENCC_100001"	"HGNC:4057"	"G6PD"	"MONDO:0005775"	"G6PD deficiency"	"MONDO:0005775"	"G6PD deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4057"	"G6PD"	"MONDO:0005775"	"G6PD deficiency"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_153ae203-3ae5-4cb3-bbf8-d72467700d8c-2023-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"153ae203-3ae5-4cb3-bbf8-d72467700d8c"	"2024-04-21"
"GENCC_000102-HGNC_4057-MONDO_0010480-HP_0001417-GENCC_100001"	"HGNC:4057"	"G6PD"	"MONDO:0010480"	"anemia, nonspherocytic hemolytic, due to G6PD deficiency"	"MONDO:0010480"	"anemia, nonspherocytic hemolytic, due to G6PD deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4057"	"G6PD"	"MONDO:0010480"	"anemia, nonspherocytic hemolytic, due to G6PD deficiency"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb70a1c4-e861-4c45-adc6-9afc82f4a7a0-2023-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cb70a1c4-e861-4c45-adc6-9afc82f4a7a0"	"2024-04-21"
"GENCC_000102-HGNC_4065-MONDO_0009290-HP_0000007-GENCC_100001"	"HGNC:4065"	"GAA"	"MONDO:0009290"	"glycogen storage disease II"	"MONDO:0009290"	"glycogen storage disease II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4065"	"GAA"	"MONDO:0009290"	"glycogen storage disease II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0554320e-6a8f-4c39-be7f-99959a8341ee-2019-01-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0554320e-6a8f-4c39-be7f-99959a8341ee"	"2024-04-21"
"GENCC_000102-HGNC_4075-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:4075"	"GABRA1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4075"	"GABRA1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60478d36-384e-4246-ba8a-730755d6f216-2019-05-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"60478d36-384e-4246-ba8a-730755d6f216"	"2024-04-21"
"GENCC_000102-HGNC_4083-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:4083"	"GABRB3"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4083"	"GABRB3"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-02-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9327dac-6f76-4881-8a23-ef2b210f92e7-2019-02-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a9327dac-6f76-4881-8a23-ef2b210f92e7"	"2024-04-21"
"GENCC_000102-HGNC_4084-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:4084"	"GABRD"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4084"	"GABRD"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-18 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c112d0b-91a0-4ba3-b3d6-d36eadddd5ee-2023-07-18T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2c112d0b-91a0-4ba3-b3d6-d36eadddd5ee"	"2024-04-21"
"GENCC_000102-HGNC_4084-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:4084"	"GABRD"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4084"	"GABRD"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-07-18 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64f743b4-408d-40d6-855b-ef9d67fc172e-2023-07-18T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"64f743b4-408d-40d6-855b-ef9d67fc172e"	"2024-04-21"
"GENCC_000102-HGNC_4087-MONDO_0005027-HP_0000006-GENCC_100001"	"HGNC:4087"	"GABRG2"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4087"	"GABRG2"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a3176e9-ac0c-41fe-ae40-0750726c33d8-2020-01-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3a3176e9-ac0c-41fe-ae40-0750726c33d8"	"2024-04-21"
"GENCC_000102-HGNC_4092-MONDO_0016021-HP_0000007-GENCC_100001"	"HGNC:4092"	"GAD1"	"MONDO:0016021"	"early infantile epileptic encephalopathy"	"MONDO:0016021"	"early infantile epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4092"	"GAD1"	"MONDO:0016021"	"obsolete early infantile epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-13 15:22:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fdee08-81b0-4957-a18a-8f622e0ab054-2021-05-13T152239.014Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20fdee08-81b0-4957-a18a-8f622e0ab054"	"2024-04-21"
"GENCC_000102-HGNC_4115-MONDO_0009499-HP_0000007-GENCC_100001"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"MONDO:0009499"	"Krabbe disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4115"	"GALC"	"MONDO:0009499"	"Krabbe disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d17202fb-89c4-4bf6-ad57-4b8c541dc808-2022-06-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d17202fb-89c4-4bf6-ad57-4b8c541dc808"	"2024-04-21"
"GENCC_000102-HGNC_4116-MONDO_0009257-HP_0000007-GENCC_100001"	"HGNC:4116"	"GALE"	"MONDO:0009257"	"galactose epimerase deficiency"	"MONDO:0009257"	"galactose epimerase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4116"	"GALE"	"MONDO:0009257"	"galactose epimerase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab7f5785-45a0-47dd-b646-6792c901d2d8-2023-09-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab7f5785-45a0-47dd-b646-6792c901d2d8"	"2024-04-21"
"GENCC_000102-HGNC_4118-MONDO_0009255-HP_0000007-GENCC_100001"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"galactokinase deficiency"	"MONDO:0009255"	"galactokinase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4118"	"GALK1"	"MONDO:0009255"	"galactokinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-30 16:13:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecd4568c-966e-4ac3-b3d2-b4ac119a7d80-2021-09-30T161317.166Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ecd4568c-966e-4ac3-b3d2-b4ac119a7d80"	"2024-04-21"
"GENCC_000102-HGNC_24063-MONDO_0030105-HP_0000007-GENCC_100002"	"HGNC:24063"	"GALM"	"MONDO:0030105"	"galactosemia 4"	"MONDO:0030105"	"galactosemia 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24063"	"GALM"	"MONDO:0030105"	"galactosemia 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-12-19 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21ee674a-b133-46e5-be96-d3533bc6ed61-2023-12-19T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"21ee674a-b133-46e5-be96-d3533bc6ed61"	"2024-04-21"
"GENCC_000102-HGNC_4122-MONDO_0009659-HP_0000007-GENCC_100001"	"HGNC:4122"	"GALNS"	"MONDO:0009659"	"mucopolysaccharidosis type 4A"	"MONDO:0009659"	"mucopolysaccharidosis type 4A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4122"	"GALNS"	"MONDO:0009659"	"mucopolysaccharidosis type 4A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c58d08e9-dc6d-45fc-a21a-54be3bc438d9-2022-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c58d08e9-dc6d-45fc-a21a-54be3bc438d9"	"2024-04-21"
"GENCC_000102-HGNC_19877-MONDO_0012132-HP_0000006-GENCC_100004"	"HGNC:19877"	"GALNT12"	"MONDO:0012132"	"colorectal cancer, susceptibility to, 1"	"MONDO:0012132"	"colorectal cancer, susceptibility to, 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19877"	"GALNT12"	"MONDO:0012132"	"colorectal cancer, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-06-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8435"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8435"	"2024-04-21"
"GENCC_000102-HGNC_4124-MONDO_0030043-HP_0000007-GENCC_100002"	"HGNC:4124"	"GALNT2"	"MONDO:0030043"	"congenital disorder of glycosylation, type iit"	"MONDO:0030043"	"congenital disorder of glycosylation, type iit"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4124"	"GALNT2"	"MONDO:0030043"	"congenital disorder of glycosylation, type iit"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2024-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8107f647-e731-44f5-ba38-46e648febab1-2024-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8107f647-e731-44f5-ba38-46e648febab1"	"2024-04-21"
"GENCC_000102-HGNC_4125-MONDO_0100252-HP_0000007-GENCC_100001"	"HGNC:4125"	"GALNT3"	"MONDO:0100252"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"MONDO:0100252"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4125"	"GALNT3"	"MONDO:0100252"	"tumoral calcinosis, hyperphosphatemic, familial, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bc60daf-72c4-4a3f-9d1c-96bffd8a9bc9-2024-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7bc60daf-72c4-4a3f-9d1c-96bffd8a9bc9"	"2024-04-21"
"GENCC_000102-HGNC_4135-MONDO_0018116-HP_0000007-GENCC_100001"	"HGNC:4135"	"GALT"	"MONDO:0018116"	"galactosemia"	"MONDO:0018116"	"galactosemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4135"	"GALT"	"MONDO:0018116"	"galactosemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c4b67f6-4084-48bc-9f71-536b23d45511-2022-06-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7c4b67f6-4084-48bc-9f71-536b23d45511"	"2024-04-21"
"GENCC_000102-HGNC_4136-MONDO_0012999-HP_0000007-GENCC_100001"	"HGNC:4136"	"GAMT"	"MONDO:0012999"	"guanidinoacetate methyltransferase deficiency"	"MONDO:0012999"	"guanidinoacetate methyltransferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4136"	"GAMT"	"MONDO:0012999"	"guanidinoacetate methyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0a84d45-57f8-4763-b1c5-7a283cef5f71-2019-01-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f0a84d45-57f8-4763-b1c5-7a283cef5f71"	"2024-04-21"
"GENCC_000102-HGNC_4137-MONDO_0009749-HP_0000007-GENCC_100001"	"HGNC:4137"	"GAN"	"MONDO:0009749"	"giant axonal neuropathy 1"	"MONDO:0009749"	"giant axonal neuropathy 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4137"	"GAN"	"MONDO:0009749"	"giant axonal neuropathy 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-10 02:12:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9f65afa-5cb1-457e-abff-ab110145a32d-2022-02-10T021239.651Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b9f65afa-5cb1-457e-abff-ab110145a32d"	"2024-04-21"
"GENCC_000102-HGNC_4138-MONDO_0010916-HP_0000006-GENCC_100001"	"HGNC:4138"	"GANAB"	"MONDO:0010916"	"polycystic kidney disease 3 with or without polycystic liver disease"	"MONDO:0010916"	"polycystic kidney disease 3 with or without polycystic liver disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4138"	"GANAB"	"MONDO:0010916"	"polycystic kidney disease 3 with or without polycystic liver disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6392961-a64a-4818-903a-0bf88b32e736-2020-09-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e6392961-a64a-4818-903a-0bf88b32e736"	"2024-04-21"
"GENCC_000102-HGNC_4162-MONDO_0011091-HP_0000006-GENCC_100001"	"HGNC:4162"	"GARS1"	"MONDO:0011091"	"Charcot-Marie-Tooth disease type 2D"	"MONDO:0011091"	"Charcot-Marie-Tooth disease type 2D"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4162"	"GARS1"	"MONDO:0011091"	"Charcot-Marie-Tooth disease type 2D"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_168242d1-ef2e-486a-a45a-ed96187bd4d2-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"168242d1-ef2e-486a-a45a-ed96187bd4d2"	"2024-04-21"
"GENCC_000102-HGNC_4165-MONDO_0016296-HP_0000006-GENCC_100004"	"HGNC:4165"	"GAS1"	"MONDO:0016296"	"holoprosencephaly"	"MONDO:0016296"	"holoprosencephaly"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4165"	"GAS1"	"MONDO:0016296"	"holoprosencephaly"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cd8c663-391d-4f50-812b-9daae61c8fd4-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7cd8c663-391d-4f50-812b-9daae61c8fd4"	"2024-04-21"
"GENCC_000102-HGNC_24846-MONDO_0032757-HP_0000007-GENCC_100003"	"HGNC:24846"	"GAS2L2"	"MONDO:0032757"	"ciliary dyskinesia, primary, 41"	"MONDO:0032757"	"ciliary dyskinesia, primary, 41"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24846"	"GAS2L2"	"MONDO:0032757"	"ciliary dyskinesia, primary, 41"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91afae37-4cfc-4aeb-af0f-26a9596611f3-2023-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"91afae37-4cfc-4aeb-af0f-26a9596611f3"	"2024-04-21"
"GENCC_000102-HGNC_4170-MONDO_0100089-HP_0001417-GENCC_100001"	"HGNC:4170"	"GATA1"	"MONDO:0100089"	"GATA1-Related X-Linked Cytopenia"	"MONDO:0100089"	"GATA1-Related X-Linked Cytopenia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4170"	"GATA1"	"MONDO:0100089"	"GATA1-Related X-Linked Cytopenia"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-27 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad980194-b275-4bbb-b3df-73c1a50d3eac-2020-05-27T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ad980194-b275-4bbb-b3df-73c1a50d3eac"	"2024-04-21"
"GENCC_000102-HGNC_4171-MONDO_0042982-HP_0000006-GENCC_100001"	"HGNC:4171"	"GATA2"	"MONDO:0042982"	"GATA2 deficiency with susceptibility to MDS/AML"	"MONDO:0042982"	"GATA2 deficiency with susceptibility to MDS/AML"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4171"	"GATA2"	"MONDO:0042982"	"GATA2 deficiency with susceptibility to MDS/AML"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c0449f7-e20b-4610-95ad-896eee265492-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7c0449f7-e20b-4610-95ad-896eee265492"	"2024-04-21"
"GENCC_000102-HGNC_4172-MONDO_0007797-HP_0000006-GENCC_100001"	"HGNC:4172"	"GATA3"	"MONDO:0007797"	"hypoparathyroidism-deafness-renal disease syndrome"	"MONDO:0007797"	"hypoparathyroidism-deafness-renal disease syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4172"	"GATA3"	"MONDO:0007797"	"hypoparathyroidism-deafness-renal disease syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afb6e0d5-81a5-439a-a498-9edc8505a367-2019-06-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afb6e0d5-81a5-439a-a498-9edc8505a367"	"2024-04-21"
"GENCC_000102-HGNC_4173-MONDO_0100009-HP_0000006-GENCC_100001"	"HGNC:4173"	"GATA4"	"MONDO:0100009"	"structural congenital heart disease, multiple types - GATA4"	"MONDO:0100009"	"structural congenital heart disease, multiple types - GATA4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4173"	"GATA4"	"MONDO:0100009"	"structural congenital heart disease, multiple types - GATA4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_005cf235-4d8d-4f12-9e75-59d3f7c4d933-2023-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"005cf235-4d8d-4f12-9e75-59d3f7c4d933"	"2024-04-21"
"GENCC_000102-HGNC_4174-MONDO_0100540-HP_0000006-GENCC_100001"	"HGNC:4174"	"GATA6"	"MONDO:0100540"	"GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes"	"MONDO:0100540"	"GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4174"	"GATA6"	"MONDO:0100540"	"GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7a0fdd7-f796-4921-95b6-709fd859b6d3-2023-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7a0fdd7-f796-4921-95b6-709fd859b6d3"	"2024-04-21"
"GENCC_000102-HGNC_29941-MONDO_0005021-HP_0000007-GENCC_100004"	"HGNC:29941"	"GATAD1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29941"	"GATAD1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56933afb-863f-46f5-884d-17522adb31a8-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"56933afb-863f-46f5-884d-17522adb31a8"	"2024-04-21"
"GENCC_000102-HGNC_30778-MONDO_0014034-HP_0000006-GENCC_100001"	"HGNC:30778"	"GATAD2B"	"MONDO:0014034"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"MONDO:0014034"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30778"	"GATAD2B"	"MONDO:0014034"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fb40641-ec79-4fee-9111-d38d2062c15b-2022-02-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5fb40641-ec79-4fee-9111-d38d2062c15b"	"2024-04-21"
"GENCC_000102-HGNC_4175-MONDO_0012996-HP_0000007-GENCC_100001"	"HGNC:4175"	"GATM"	"MONDO:0012996"	"AGAT deficiency"	"MONDO:0012996"	"AGAT deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4175"	"GATM"	"MONDO:0012996"	"AGAT deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d63bfeff-882d-400f-af17-277a702fd09b-2019-03-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d63bfeff-882d-400f-af17-277a702fd09b"	"2024-04-21"
"GENCC_000102-HGNC_4177-MONDO_0005180-HP_0000006-GENCC_100001"	"HGNC:4177"	"GBA1"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4177"	"GBA1"	"MONDO:0005180"	"Parkinson disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-03 13:48:10"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9201c03f-10de-447c-9b84-194f14b549b6-2022-05-03T134810.206Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9201c03f-10de-447c-9b84-194f14b549b6"	"2024-04-21"
"GENCC_000102-HGNC_4177-MONDO_0018150-HP_0000007-GENCC_100001"	"HGNC:4177"	"GBA1"	"MONDO:0018150"	"Gaucher disease"	"MONDO:0018150"	"Gaucher disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4177"	"GBA1"	"MONDO:0018150"	"Gaucher disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbc5a876-f97e-4f9c-be99-664e2f6c8470-2020-06-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fbc5a876-f97e-4f9c-be99-664e2f6c8470"	"2024-04-21"
"GENCC_000102-HGNC_4180-MONDO_0009292-HP_0000007-GENCC_100001"	"HGNC:4180"	"GBE1"	"MONDO:0009292"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"MONDO:0009292"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4180"	"GBE1"	"MONDO:0009292"	"glycogen storage disease due to glycogen branching enzyme deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f01d412-0f6d-4a0f-88db-b55b2af4a0a2-2023-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3f01d412-0f6d-4a0f-88db-b55b2af4a0a2"	"2024-04-21"
"GENCC_000102-HGNC_4189-MONDO_0009281-HP_0000007-GENCC_100001"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4189"	"GCDH"	"MONDO:0009281"	"glutaryl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33a2c95e-a057-4b93-b97e-27b6597516e5-2019-11-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"33a2c95e-a057-4b93-b97e-27b6597516e5"	"2024-04-21"
"GENCC_000102-HGNC_4193-MONDO_0100184-HP_0032113-GENCC_100001"	"HGNC:4193"	"GCH1"	"MONDO:0100184"	"GTP cyclohydrolase I deficiency"	"MONDO:0100184"	"GTP cyclohydrolase I deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:4193"	"GCH1"	"MONDO:0100184"	"GTP cyclohydrolase I deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-11 20:09:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed6c1e6c-5856-48aa-aa8f-47328e6b09eb-2020-12-11T200937.286Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ed6c1e6c-5856-48aa-aa8f-47328e6b09eb"	"2024-04-21"
"GENCC_000102-HGNC_4195-MONDO_0015967-HP_0000006-GENCC_100001"	"HGNC:4195"	"GCK"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4195"	"GCK"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7291ae0-3356-4c7b-832a-edae5176739f-2020-05-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c7291ae0-3356-4c7b-832a-edae5176739f"	"2024-04-21"
"GENCC_000102-HGNC_4208-MONDO_0011612-HP_0000007-GENCC_100002"	"HGNC:4208"	"GCSH"	"MONDO:0011612"	"glycine encephalopathy"	"MONDO:0011612"	"glycine encephalopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4208"	"GCSH"	"MONDO:0011612"	"glycine encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-02-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d360db9d-24e7-415e-b4bc-59a2c6231189-2023-02-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d360db9d-24e7-415e-b4bc-59a2c6231189"	"2024-04-21"
"GENCC_000102-HGNC_15968-MONDO_0015626-HP_0032113-GENCC_100001"	"HGNC:15968"	"GDAP1"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:15968"	"GDAP1"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-28 14:42:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6d93637-02f5-4f5d-b7a9-17356f084149-2020-07-28T144211.873Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c6d93637-02f5-4f5d-b7a9-17356f084149"	"2024-04-21"
"GENCC_000102-HGNC_4217-MONDO_0014217-HP_0000006-GENCC_100003"	"HGNC:4217"	"GDF2"	"MONDO:0014217"	"telangiectasia, hereditary hemorrhagic, type 5"	"MONDO:0014217"	"telangiectasia, hereditary hemorrhagic, type 5"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4217"	"GDF2"	"MONDO:0014217"	"telangiectasia, hereditary hemorrhagic, type 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00608fb7-3483-495a-8f9e-76aabb4b1dc0-2023-04-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"00608fb7-3483-495a-8f9e-76aabb4b1dc0"	"2024-04-21"
"GENCC_000102-HGNC_4217-MONDO_0015924-HP_0000006-GENCC_100001"	"HGNC:4217"	"GDF2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4217"	"GDF2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-26 22:15:14"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d2e83fa-0af1-450f-af9c-5c61d4bc3106-2022-05-26T221514.154Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2d2e83fa-0af1-450f-af9c-5c61d4bc3106"	"2024-04-21"
"GENCC_000102-HGNC_4226-MONDO_0019181-HP_0001417-GENCC_100003"	"HGNC:4226"	"GDI1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4226"	"GDI1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-27 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8afc42b0-6c5e-460b-87d1-035c051fe7ca-2023-04-27T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8afc42b0-6c5e-460b-87d1-035c051fe7ca"	"2024-04-21"
"GENCC_000102-HGNC_26881-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:26881"	"GEN1"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26881"	"GEN1"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-01-11 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8692"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8692"	"2024-04-21"
"GENCC_000102-HGNC_26881-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:26881"	"GEN1"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26881"	"GEN1"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8a2aec0-413b-41f2-ba51-e8a71e52cf1a-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b8a2aec0-413b-41f2-ba51-e8a71e52cf1a"	"2024-04-21"
"GENCC_000102-HGNC_4235-MONDO_0008752-HP_0000006-GENCC_100001"	"HGNC:4235"	"GFAP"	"MONDO:0008752"	"Alexander disease"	"MONDO:0008752"	"Alexander disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4235"	"GFAP"	"MONDO:0008752"	"Alexander disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1da6d658-360e-4097-95a9-0b6838638e31-2024-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1da6d658-360e-4097-95a9-0b6838638e31"	"2024-04-21"
"GENCC_000102-HGNC_4238-MONDO_0008553-HP_0000006-GENCC_100001"	"HGNC:4238"	"GFI1B"	"MONDO:0008553"	"platelet-type bleeding disorder 17"	"MONDO:0008553"	"platelet-type bleeding disorder 17"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4238"	"GFI1B"	"MONDO:0008553"	"platelet-type bleeding disorder 17"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62841ea9-5bd8-4250-ab41-31d7cf82d2e3-2019-11-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"62841ea9-5bd8-4250-ab41-31d7cf82d2e3"	"2024-04-21"
"GENCC_000102-HGNC_13780-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:13780"	"GFM1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13780"	"GFM1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-12-19 18:51:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_154a8f96-7062-49c7-9aaa-b23a98655f40-2019-12-19T185108.232Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"154a8f96-7062-49c7-9aaa-b23a98655f40"	"2024-04-21"
"GENCC_000102-HGNC_29682-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:29682"	"GFM2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29682"	"GFM2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-12-19 18:54:49"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0736b760-ca37-4d0a-93a4-c71bbb8cd41a-2019-12-19T185449.252Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0736b760-ca37-4d0a-93a4-c71bbb8cd41a"	"2024-04-21"
"GENCC_000102-HGNC_4247-MONDO_0010187-HP_0000007-GENCC_100001"	"HGNC:4247"	"GGCX"	"MONDO:0010187"	"vitamin K-dependent clotting factors, combined deficiency of, type 1"	"MONDO:0010187"	"vitamin K-dependent clotting factors, combined deficiency of, type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4247"	"GGCX"	"MONDO:0010187"	"vitamin K-dependent clotting factors, combined deficiency of, type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-24 17:52:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87ceae1d-b329-4c29-b6f2-8a94a127204e-2021-02-24T175200.635Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"87ceae1d-b329-4c29-b6f2-8a94a127204e"	"2024-04-21"
"GENCC_000102-HGNC_4247-MONDO_0015924-HP_0000006-GENCC_100003"	"HGNC:4247"	"GGCX"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4247"	"GGCX"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ac82a47-d6c3-4cbb-ae29-b6044a9a624e-2022-11-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8ac82a47-d6c3-4cbb-ae29-b6044a9a624e"	"2024-04-21"
"GENCC_000102-HGNC_18183-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:18183"	"GIPC3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18183"	"GIPC3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-08-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5feebe1-59a9-4e28-ad85-aec5cad6b54e-2017-08-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e5feebe1-59a9-4e28-ad85-aec5cad6b54e"	"2024-04-21"
"GENCC_000102-HGNC_4274-MONDO_0019497-HP_0000006-GENCC_100005"	"HGNC:4274"	"GJA1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4274"	"GJA1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-03-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e428d8c-42a2-430b-babd-8beceb26197e-2022-03-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e428d8c-42a2-430b-babd-8beceb26197e"	"2024-04-21"
"GENCC_000102-HGNC_4283-MONDO_0010549-HP_0001417-GENCC_100001"	"HGNC:4283"	"GJB1"	"MONDO:0010549"	"Charcot-Marie-Tooth disease X-linked dominant 1"	"MONDO:0010549"	"Charcot-Marie-Tooth disease X-linked dominant 1"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4283"	"GJB1"	"MONDO:0010549"	"Charcot-Marie-Tooth disease X-linked dominant 1"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcacd858-2376-4cc0-983a-156145e36595-2020-01-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fcacd858-2376-4cc0-983a-156145e36595"	"2024-04-21"
"GENCC_000102-HGNC_4284-MONDO_0019588-HP_0000007-GENCC_100001"	"HGNC:4284"	"GJB2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4284"	"GJB2"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-03-02 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8399"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8399"	"2024-04-21"
"GENCC_000102-HGNC_4285-MONDO_0017851-HP_0000006-GENCC_100001"	"HGNC:4285"	"GJB3"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4285"	"GJB3"	"MONDO:0017851"	"erythrokeratodermia variabilis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d48c959-31d8-44e2-985c-c48921e8f08a-2023-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d48c959-31d8-44e2-985c-c48921e8f08a"	"2024-04-21"
"GENCC_000102-HGNC_4285-MONDO_0019497-HP_0000006-GENCC_100005"	"HGNC:4285"	"GJB3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4285"	"GJB3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f83e013a-685f-405b-89d6-a8e80aefaf6e-2018-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f83e013a-685f-405b-89d6-a8e80aefaf6e"	"2024-04-21"
"GENCC_000102-HGNC_4288-MONDO_0019497-HP_0000007-GENCC_100006"	"HGNC:4288"	"GJB6"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100006"	"Refuted Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4288"	"GJB6"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2018-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f281869c-25e5-44ad-94e7-c7d6374755fd-2018-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f281869c-25e5-44ad-94e7-c7d6374755fd"	"2024-04-21"
"GENCC_000102-HGNC_4288-MONDO_0007510-HP_0000006-GENCC_100001"	"HGNC:4288"	"GJB6"	"MONDO:0007510"	"Clouston syndrome"	"MONDO:0007510"	"Clouston syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4288"	"GJB6"	"MONDO:0007510"	"Clouston syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff18d307-80a8-44b8-8b1a-e26e8a7d912a-2018-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff18d307-80a8-44b8-8b1a-e26e8a7d912a"	"2024-04-21"
"GENCC_000102-HGNC_4289-MONDO_0010613-HP_0001417-GENCC_100001"	"HGNC:4289"	"GK"	"MONDO:0010613"	"inborn glycerol kinase deficiency"	"MONDO:0010613"	"inborn glycerol kinase deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4289"	"GK"	"MONDO:0010613"	"inborn glycerol kinase deficiency"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-14 17:41:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8965e78-8d6a-4b8a-af2d-e05097d791e0-2022-01-14T174134.555Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b8965e78-8d6a-4b8a-af2d-e05097d791e0"	"2024-04-21"
"GENCC_000102-HGNC_4296-MONDO_0010526-HP_0001417-GENCC_100001"	"HGNC:4296"	"GLA"	"MONDO:0010526"	"Fabry disease"	"MONDO:0010526"	"Fabry disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4296"	"GLA"	"MONDO:0010526"	"Fabry disease"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb4bb6f4-89de-4586-af6b-3f218b8cb4dc-2019-01-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eb4bb6f4-89de-4586-af6b-3f218b8cb4dc"	"2024-04-21"
"GENCC_000102-HGNC_4298-MONDO_0018149-HP_0000007-GENCC_100001"	"HGNC:4298"	"GLB1"	"MONDO:0018149"	"GM1 gangliosidosis"	"MONDO:0018149"	"GM1 gangliosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4298"	"GLB1"	"MONDO:0018149"	"GM1 gangliosidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0019c7ef-4e2f-4f32-ab42-decfa0b20c29-2023-04-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0019c7ef-4e2f-4f32-ab42-decfa0b20c29"	"2024-04-21"
"GENCC_000102-HGNC_4298-MONDO_0009660-HP_0000007-GENCC_100001"	"HGNC:4298"	"GLB1"	"MONDO:0009660"	"mucopolysaccharidosis type 4B"	"MONDO:0009660"	"mucopolysaccharidosis type 4B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4298"	"GLB1"	"MONDO:0009660"	"mucopolysaccharidosis type 4B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e170fda-e08a-4fd3-a3e5-f08c5c0d55b8-2023-04-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e170fda-e08a-4fd3-a3e5-f08c5c0d55b8"	"2024-04-21"
"GENCC_000102-HGNC_4313-MONDO_0011612-HP_0000007-GENCC_100001"	"HGNC:4313"	"GLDC"	"MONDO:0011612"	"glycine encephalopathy"	"MONDO:0011612"	"glycine encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4313"	"GLDC"	"MONDO:0011612"	"glycine encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14d991f3-25f3-40c9-aacd-c1a008d9eaea-2019-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14d991f3-25f3-40c9-aacd-c1a008d9eaea"	"2024-04-21"
"GENCC_000102-HGNC_4315-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:4315"	"GLE1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4315"	"GLE1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-10-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0284b3cd-38af-4309-8ce4-054a0379e693-2023-10-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0284b3cd-38af-4309-8ce4-054a0379e693"	"2024-04-21"
"GENCC_000102-HGNC_29450-MONDO_0012680-HP_0000007-GENCC_100004"	"HGNC:29450"	"GLIS2"	"MONDO:0012680"	"nephronophthisis 7"	"MONDO:0012680"	"nephronophthisis 7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29450"	"GLIS2"	"MONDO:0012680"	"nephronophthisis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-05-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c51be76f-59d3-4884-9df3-4416686848ab-2021-05-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c51be76f-59d3-4884-9df3-4416686848ab"	"2024-04-21"
"GENCC_000102-HGNC_4331-MONDO_0600001-HP_0000007-GENCC_100001"	"HGNC:4331"	"GLS"	"MONDO:0600001"	"glutaminase deficiency"	"MONDO:0600001"	"glutaminase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4331"	"GLS"	"MONDO:0600001"	"glutaminase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-09 17:01:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1eedd351-1520-4354-9608-cf8d56ce9bd9-2021-07-09T170141.305Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1eedd351-1520-4354-9608-cf8d56ce9bd9"	"2024-04-21"
"GENCC_000102-HGNC_4331-MONDO_0032685-HP_0000006-GENCC_100004"	"HGNC:4331"	"GLS"	"MONDO:0032685"	"infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"	"MONDO:0032685"	"infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4331"	"GLS"	"MONDO:0032685"	"infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-07-09 17:03:49"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0a699ec-3d67-4e18-a0da-464c2832c4ec-2021-07-09T170349.643Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c0a699ec-3d67-4e18-a0da-464c2832c4ec"	"2024-04-21"
"GENCC_000102-HGNC_24870-MONDO_0005144-HP_0000006-GENCC_100004"	"HGNC:24870"	"GLT8D1"	"MONDO:0005144"	"familial amyotrophic lateral sclerosis"	"MONDO:0005144"	"familial amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24870"	"GLT8D1"	"MONDO:0005144"	"familial amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2c4f919-ccb5-4d9f-a604-5ed19e19057e-2022-11-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a2c4f919-ccb5-4d9f-a604-5ed19e19057e"	"2024-04-21"
"GENCC_000102-HGNC_4335-MONDO_0011717-HP_0000006-GENCC_100001"	"HGNC:4335"	"GLUD1"	"MONDO:0011717"	"hyperinsulinism-hyperammonemia syndrome"	"MONDO:0011717"	"hyperinsulinism-hyperammonemia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4335"	"GLUD1"	"MONDO:0011717"	"hyperinsulinism-hyperammonemia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_924bd593-ba5a-49a5-bb71-8224271a713b-2020-11-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"924bd593-ba5a-49a5-bb71-8224271a713b"	"2024-04-21"
"GENCC_000102-HGNC_4341-MONDO_0012393-HP_0000007-GENCC_100003"	"HGNC:4341"	"GLUL"	"MONDO:0012393"	"congenital brain dysgenesis due to glutamine synthetase deficiency"	"MONDO:0012393"	"congenital brain dysgenesis due to glutamine synthetase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4341"	"GLUL"	"MONDO:0012393"	"congenital brain dysgenesis due to glutamine synthetase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d71d7866-437d-48bd-8a98-21e67abdd917-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d71d7866-437d-48bd-8a98-21e67abdd917"	"2024-04-21"
"GENCC_000102-HGNC_4367-MONDO_0010099-HP_0000007-GENCC_100001"	"HGNC:4367"	"GM2A"	"MONDO:0010099"	"Tay-Sachs disease AB variant"	"MONDO:0010099"	"Tay-Sachs disease AB variant"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4367"	"GM2A"	"MONDO:0010099"	"Tay-Sachs disease AB variant"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c793bd3-8433-4632-a571-a3fc07e84c10-2022-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7c793bd3-8433-4632-a571-a3fc07e84c10"	"2024-04-21"
"GENCC_000102-HGNC_22923-MONDO_0014219-HP_0000007-GENCC_100001"	"HGNC:22923"	"GMPPA"	"MONDO:0014219"	"alacrima, achalasia, and intellectual disability syndrome"	"MONDO:0014219"	"alacrima, achalasia, and intellectual disability syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:22923"	"GMPPA"	"MONDO:0014219"	"alacrima, achalasia, and intellectual disability syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac7d2391-9ba9-45de-870a-7a996ea0766f-2023-09-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac7d2391-9ba9-45de-870a-7a996ea0766f"	"2024-04-21"
"GENCC_000102-HGNC_22932-MONDO_0700084-HP_0000007-GENCC_100001"	"HGNC:22932"	"GMPPB"	"MONDO:0700084"	"myopathy caused by variation in GMPPB"	"MONDO:0700084"	"myopathy caused by variation in GMPPB"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:22932"	"GMPPB"	"MONDO:0700084"	"myopathy caused by variation in GMPPB"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-20 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44d2e0f3-d2c4-4879-8bc8-2f3bdd4cfac5-2023-06-20T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"44d2e0f3-d2c4-4879-8bc8-2f3bdd4cfac5"	"2024-04-21"
"GENCC_000102-HGNC_4384-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:4384"	"GNAI1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4384"	"GNAI1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea8128fc-f085-492a-b0ef-f37d994bb01b-2021-03-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ea8128fc-f085-492a-b0ef-f37d994bb01b"	"2024-04-21"
"GENCC_000102-HGNC_4389-MONDO_0005395-HP_0000006-GENCC_100001"	"HGNC:4389"	"GNAO1"	"MONDO:0005395"	"movement disorder"	"MONDO:0005395"	"movement disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4389"	"GNAO1"	"MONDO:0005395"	"movement disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-02-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_418a5a18-3d0e-4cef-84b4-74c5accc0df1-2019-02-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"418a5a18-3d0e-4cef-84b4-74c5accc0df1"	"2024-04-21"
"GENCC_000102-HGNC_4389-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:4389"	"GNAO1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4389"	"GNAO1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b56856e2-8e6f-4f01-a6bd-1642fee71e5b-2018-12-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b56856e2-8e6f-4f01-a6bd-1642fee71e5b"	"2024-04-21"
"GENCC_000102-HGNC_4394-MONDO_0800392-HP_0000007-GENCC_100001"	"HGNC:4394"	"GNAT2"	"MONDO:0800392"	"GNAT2-related retinopathy"	"MONDO:0800392"	"GNAT2-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4394"	"GNAT2"	"MONDO:0800392"	"GNAT2-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6888747f-55ae-4f8e-a3a8-c77bcd543689-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6888747f-55ae-4f8e-a3a8-c77bcd543689"	"2024-04-21"
"GENCC_000102-HGNC_20731-MONDO_0015626-HP_0000006-GENCC_100003"	"HGNC:20731"	"GNB4"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20731"	"GNB4"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-04-14 13:20:10"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8cecdd7-06d8-4697-8cd9-32900c366371-2020-04-14T132010.930Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a8cecdd7-06d8-4697-8cd9-32900c366371"	"2024-04-21"
"GENCC_000102-HGNC_23657-MONDO_0031447-HP_0000007-GENCC_100003"	"HGNC:23657"	"GNE"	"MONDO:0031447"	"macrothrombocytopenia, isolated"	"MONDO:0031447"	"macrothrombocytopenia, isolated"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23657"	"GNE"	"MONDO:0031447"	"macrothrombocytopenia, isolated"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_335d18ae-50ef-49a8-abb2-79799833b544-2022-05-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"335d18ae-50ef-49a8-abb2-79799833b544"	"2024-04-21"
"GENCC_000102-HGNC_4415-MONDO_0011698-HP_0000007-GENCC_100004"	"HGNC:4415"	"GNMT"	"MONDO:0011698"	"glycine N-methyltransferase deficiency"	"MONDO:0011698"	"glycine N-methyltransferase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4415"	"GNMT"	"MONDO:0011698"	"glycine N-methyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cafb0200-f6cf-482d-9ffb-69ae7bc43669-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cafb0200-f6cf-482d-9ffb-69ae7bc43669"	"2024-04-21"
"GENCC_000102-HGNC_4416-MONDO_0100273-HP_0000007-GENCC_100001"	"HGNC:4416"	"GNPAT"	"MONDO:0100273"	"glyceronephosphate O-acyltransferase deficiency"	"MONDO:0100273"	"glyceronephosphate O-acyltransferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4416"	"GNPAT"	"MONDO:0100273"	"glyceronephosphate O-acyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba96f922-5ec9-4404-b2e4-66c31c2dcda6-2020-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ba96f922-5ec9-4404-b2e4-66c31c2dcda6"	"2024-04-21"
"GENCC_000102-HGNC_29670-MONDO_0100122-HP_0000007-GENCC_100001"	"HGNC:29670"	"GNPTAB"	"MONDO:0100122"	"GNPTAB-mucolipidosis"	"MONDO:0100122"	"GNPTAB-mucolipidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29670"	"GNPTAB"	"MONDO:0100122"	"GNPTAB-mucolipidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53e7d8eb-de36-49d5-ba29-57f640a492bc-2023-04-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"53e7d8eb-de36-49d5-ba29-57f640a492bc"	"2024-04-21"
"GENCC_000102-HGNC_23026-MONDO_0009652-HP_0000007-GENCC_100001"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23026"	"GNPTG"	"MONDO:0009652"	"GNPTG-mucolipidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71d1d916-4c96-4d09-a66b-1c7ccb55c353-2022-12-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"71d1d916-4c96-4d09-a66b-1c7ccb55c353"	"2024-04-21"
"GENCC_000102-HGNC_4422-MONDO_0009658-HP_0000007-GENCC_100001"	"HGNC:4422"	"GNS"	"MONDO:0009658"	"mucopolysaccharidosis type 3D"	"MONDO:0009658"	"mucopolysaccharidosis type 3D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4422"	"GNS"	"MONDO:0009658"	"mucopolysaccharidosis type 3D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63312833-baef-4b11-9769-c93957decef6-2022-09-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"63312833-baef-4b11-9769-c93957decef6"	"2024-04-21"
"GENCC_000102-HGNC_4439-MONDO_0009276-HP_0000007-GENCC_100001"	"HGNC:4439"	"GP1BA"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4439"	"GP1BA"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e3aa94f-1e87-4806-bc47-2f8c40e3d1bc-2020-05-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7e3aa94f-1e87-4806-bc47-2f8c40e3d1bc"	"2024-04-21"
"GENCC_000102-HGNC_4439-MONDO_0008332-HP_0000006-GENCC_100001"	"HGNC:4439"	"GP1BA"	"MONDO:0008332"	"platelet-type von Willebrand disease"	"MONDO:0008332"	"platelet-type von Willebrand disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4439"	"GP1BA"	"MONDO:0008332"	"platelet-type von Willebrand disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fef91aa-8c41-4044-b601-da24c2bab351-2020-05-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8fef91aa-8c41-4044-b601-da24c2bab351"	"2024-04-21"
"GENCC_000102-HGNC_4440-MONDO_0009276-HP_0000007-GENCC_100001"	"HGNC:4440"	"GP1BB"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4440"	"GP1BB"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2064876d-ea54-4ace-be76-f700cfefbf90-2019-06-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2064876d-ea54-4ace-be76-f700cfefbf90"	"2024-04-21"
"GENCC_000102-HGNC_14388-MONDO_0013623-HP_0000007-GENCC_100001"	"HGNC:14388"	"GP6"	"MONDO:0013623"	"platelet-type bleeding disorder 11"	"MONDO:0013623"	"platelet-type bleeding disorder 11"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14388"	"GP6"	"MONDO:0013623"	"platelet-type bleeding disorder 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76262cf5-f2cd-4466-b542-bf2334a96c73-2019-10-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"76262cf5-f2cd-4466-b542-bf2334a96c73"	"2024-04-21"
"GENCC_000102-HGNC_4444-MONDO_0009276-HP_0000007-GENCC_100001"	"HGNC:4444"	"GP9"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4444"	"GP9"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af66eb15-10fe-4c2b-bff2-b8c8bf813174-2019-11-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"af66eb15-10fe-4c2b-bff2-b8c8bf813174"	"2024-04-21"
"GENCC_000102-HGNC_4446-MONDO_0060627-HP_0000007-GENCC_100002"	"HGNC:4446"	"GPAA1"	"MONDO:0060627"	"glycosylphosphatidylinositol biosynthesis defect 15"	"MONDO:0060627"	"glycosylphosphatidylinositol biosynthesis defect 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4446"	"GPAA1"	"MONDO:0060627"	"glycosylphosphatidylinositol biosynthesis defect 15"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-03-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_682c38ac-9075-47ec-96e4-cc2ce7b0838b-2023-03-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"682c38ac-9075-47ec-96e4-cc2ce7b0838b"	"2024-04-21"
"GENCC_000102-HGNC_4451-MONDO_0010731-HP_0001417-GENCC_100001"	"HGNC:4451"	"GPC3"	"MONDO:0010731"	"Simpson-Golabi-Behmel syndrome"	"MONDO:0010731"	"Simpson-Golabi-Behmel syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4451"	"GPC3"	"MONDO:0010731"	"Simpson-Golabi-Behmel syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-12-31 17:54:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b8b02d6-1d60-4b4c-bb8a-b976907087c7-2019-12-31T175422.159Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5b8b02d6-1d60-4b4c-bb8a-b976907087c7"	"2024-04-21"
"GENCC_000102-HGNC_28956-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:28956"	"GPD1L"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28956"	"GPD1L"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10149"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10149"	"2024-04-21"
"GENCC_000102-HGNC_15465-MONDO_0014212-HP_0000007-GENCC_100003"	"HGNC:15465"	"GPHN"	"MONDO:0014212"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"	"MONDO:0014212"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15465"	"GPHN"	"MONDO:0014212"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-12 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29f6ebf3-c4c5-4770-b7d1-50816b9f9d74-2023-07-12T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29f6ebf3-c4c5-4770-b7d1-50816b9f9d74"	"2024-04-21"
"GENCC_000102-HGNC_20145-MONDO_0019118-HP_0001417-GENCC_100001"	"HGNC:20145"	"GPR143"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:20145"	"GPR143"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41096b60-bbfb-469e-9695-8a23986f467c-2022-10-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41096b60-bbfb-469e-9695-8a23986f467c"	"2024-04-21"
"GENCC_000102-HGNC_31371-MONDO_0800396-HP_0000007-GENCC_100001"	"HGNC:31371"	"GPR179"	"MONDO:0800396"	"GPR179-related retinopathy"	"MONDO:0800396"	"GPR179-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:31371"	"GPR179"	"MONDO:0800396"	"GPR179-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53ab184d-9f73-42b6-b407-7d72f7b44c8a-2022-06-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"53ab184d-9f73-42b6-b407-7d72f7b44c8a"	"2024-04-21"
"GENCC_000102-HGNC_29501-MONDO_0011411-HP_0000007-GENCC_100001"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29501"	"GPSM2"	"MONDO:0011411"	"Chudley-McCullough syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd40cf49-a25c-450b-be6b-b80eef958f4c-2018-05-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cd40cf49-a25c-450b-be6b-b80eef958f4c"	"2024-04-21"
"GENCC_000102-HGNC_18062-MONDO_0014567-HP_0000007-GENCC_100001"	"HGNC:18062"	"GPT2"	"MONDO:0014567"	"glutamate pyruvate transaminase 2 deficiency"	"MONDO:0014567"	"glutamate pyruvate transaminase 2 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18062"	"GPT2"	"MONDO:0014567"	"glutamate pyruvate transaminase 2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-05 11:54:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42a70a83-40da-4acc-b6a3-9ef3942abd14-2021-10-05T115427.845Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"42a70a83-40da-4acc-b6a3-9ef3942abd14"	"2024-04-21"
"GENCC_000102-HGNC_2001-MONDO_0011023-HP_0000006-GENCC_100001"	"HGNC:2001"	"GREM1"	"MONDO:0011023"	"hereditary mixed polyposis syndrome"	"MONDO:0011023"	"hereditary mixed polyposis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2001"	"GREM1"	"MONDO:0011023"	"hereditary mixed polyposis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e702a1e-b700-4364-bf4b-9ad0d05af89f-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e702a1e-b700-4364-bf4b-9ad0d05af89f"	"2024-04-21"
"GENCC_000102-HGNC_2799-MONDO_0019497-HP_0000006-GENCC_100002"	"HGNC:2799"	"GRHL2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2799"	"GRHL2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2018-01-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2ca9952-b611-4e6f-bbf8-aa5175248d01-2018-01-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a2ca9952-b611-4e6f-bbf8-aa5175248d01"	"2024-04-21"
"GENCC_000102-HGNC_4572-MONDO_0030060-HP_0000006-GENCC_100001"	"HGNC:4572"	"GRIA2"	"MONDO:0030060"	"neurodevelopmental disorder with language impairment and behavioral abnormalities"	"MONDO:0030060"	"neurodevelopmental disorder with language impairment and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4572"	"GRIA2"	"MONDO:0030060"	"neurodevelopmental disorder with language impairment and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd72c9ed-0236-406f-a18e-8d743c7f5827-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fd72c9ed-0236-406f-a18e-8d743c7f5827"	"2024-04-21"
"GENCC_000102-HGNC_4573-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:4573"	"GRIA3"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4573"	"GRIA3"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25f94660-0a8d-4f3a-8f6c-dde1b38a8ab7-2019-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"25f94660-0a8d-4f3a-8f6c-dde1b38a8ab7"	"2024-04-21"
"GENCC_000102-HGNC_4580-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:4580"	"GRIK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4580"	"GRIK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-02-10 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1939b90b-f1e4-4426-9f8c-5526f9003f10-2022-02-10T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1939b90b-f1e4-4426-9f8c-5526f9003f10"	"2024-04-21"
"GENCC_000102-HGNC_4580-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:4580"	"GRIK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4580"	"GRIK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-10 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f1b4733-9b55-401b-bc3b-6ead723e7fcb-2022-02-10T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f1b4733-9b55-401b-bc3b-6ead723e7fcb"	"2024-04-21"
"GENCC_000102-HGNC_4584-MONDO_0100038-HP_0000007-GENCC_100001"	"HGNC:4584"	"GRIN1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4584"	"GRIN1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-04 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22693f82-fde1-4123-9cfb-6ec27e0c1ac6-2023-04-04T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"22693f82-fde1-4123-9cfb-6ec27e0c1ac6"	"2024-04-21"
"GENCC_000102-HGNC_4584-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:4584"	"GRIN1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4584"	"GRIN1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-20 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b98e5df5-8f39-4fd6-9715-bb8da7dc1806-2018-11-20T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b98e5df5-8f39-4fd6-9715-bb8da7dc1806"	"2024-04-21"
"GENCC_000102-HGNC_4585-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:4585"	"GRIN2A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4585"	"GRIN2A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c405372-b99b-42fc-836d-65d7c0cbd279-2019-07-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0c405372-b99b-42fc-836d-65d7c0cbd279"	"2024-04-21"
"GENCC_000102-HGNC_4586-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:4586"	"GRIN2B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4586"	"GRIN2B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8d9346-2ab7-4ef1-9071-9b8ae4178174-2019-03-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff8d9346-2ab7-4ef1-9071-9b8ae4178174"	"2024-04-21"
"GENCC_000102-HGNC_4588-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:4588"	"GRIN2D"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4588"	"GRIN2D"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-15 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a52befb3-e9e0-46f1-9abf-8ead03151230-2022-03-15T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a52befb3-e9e0-46f1-9abf-8ead03151230"	"2024-04-21"
"GENCC_000102-HGNC_18708-MONDO_0054739-HP_0000007-GENCC_100001"	"HGNC:18708"	"GRIP1"	"MONDO:0054739"	"Fraser syndrome 3"	"MONDO:0054739"	"Fraser syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18708"	"GRIP1"	"MONDO:0054739"	"Fraser syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f48ad44-97c0-41e8-b50e-307eac8c310a-2023-03-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2f48ad44-97c0-41e8-b50e-307eac8c310a"	"2024-04-21"
"GENCC_000102-HGNC_10013-MONDO_0019152-HP_0000007-GENCC_100001"	"HGNC:10013"	"GRK1"	"MONDO:0019152"	"Oguchi disease"	"MONDO:0019152"	"Oguchi disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10013"	"GRK1"	"MONDO:0019152"	"Oguchi disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6e159cb-c02a-417c-9c60-a9b66db41c73-2021-01-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b6e159cb-c02a-417c-9c60-a9b66db41c73"	"2024-04-21"
"GENCC_000102-HGNC_4598-MONDO_0800397-HP_0000007-GENCC_100001"	"HGNC:4598"	"GRM6"	"MONDO:0800397"	"GRM6-related retinopathy"	"MONDO:0800397"	"GRM6-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4598"	"GRM6"	"MONDO:0800397"	"GRM6-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d65aebc-d4af-49ca-9682-9fde5f56bbef-2022-09-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d65aebc-d4af-49ca-9682-9fde5f56bbef"	"2024-04-21"
"GENCC_000102-HGNC_4601-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:4601"	"GRN"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4601"	"GRN"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49eb0915-acff-423d-a70f-d00d4319d404-2023-01-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"49eb0915-acff-423d-a70f-d00d4319d404"	"2024-04-21"
"GENCC_000102-HGNC_4601-MONDO_0030923-HP_0000006-GENCC_100001"	"HGNC:4601"	"GRN"	"MONDO:0030923"	"frontotemporal dementia and/or amyotrophic lateral sclerosis"	"MONDO:0030923"	"frontotemporal dementia and/or amyotrophic lateral sclerosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4601"	"GRN"	"MONDO:0030923"	"frontotemporal dementia and/or amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e76545e6-2411-44c5-a458-99f02aa7ff44-2023-05-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e76545e6-2411-44c5-a458-99f02aa7ff44"	"2024-04-21"
"GENCC_000102-HGNC_31673-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:31673"	"GRXCR1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:31673"	"GRXCR1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-24 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4becaf23-4b72-4dd1-a5aa-4deccbb394ea-2018-04-24T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4becaf23-4b72-4dd1-a5aa-4deccbb394ea"	"2024-04-21"
"GENCC_000102-HGNC_33862-MONDO_0019497-HP_0000007-GENCC_100003"	"HGNC:33862"	"GRXCR2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:33862"	"GRXCR2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-03-26 15:57:48"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_207f12b7-3148-4a8f-88f8-f78ac5bb294c-2021-03-26T155748.643Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"207f12b7-3148-4a8f-88f8-f78ac5bb294c"	"2024-04-21"
"GENCC_000102-HGNC_2810-MONDO_0019587-HP_0000006-GENCC_100001"	"HGNC:2810"	"GSDME"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2810"	"GSDME"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b0a844b-f968-48e0-8940-35584eb3454b-2017-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b0a844b-f968-48e0-8940-35584eb3454b"	"2024-04-21"
"GENCC_000102-HGNC_4624-MONDO_0017909-HP_0000007-GENCC_100001"	"HGNC:4624"	"GSS"	"MONDO:0017909"	"inherited glutathione synthetase deficiency"	"MONDO:0017909"	"inherited glutathione synthetase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4624"	"GSS"	"MONDO:0017909"	"inherited glutathione synthetase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69a8e645-0e10-4ea9-8545-212ce9b0dcbf-2019-04-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"69a8e645-0e10-4ea9-8545-212ce9b0dcbf"	"2024-04-21"
"GENCC_000102-HGNC_4643-MONDO_0060527-HP_0000007-GENCC_100003"	"HGNC:4643"	"GSTZ1"	"MONDO:0060527"	"maleylacetoacetate isomerase deficiency"	"MONDO:0060527"	"maleylacetoacetate isomerase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4643"	"GSTZ1"	"MONDO:0060527"	"maleylacetoacetate isomerase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-09-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c287e0b-88be-4fbb-82a6-a8c70d430506-2022-09-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8c287e0b-88be-4fbb-82a6-a8c70d430506"	"2024-04-21"
"GENCC_000102-HGNC_24959-MONDO_0020762-HP_0000007-GENCC_100004"	"HGNC:24959"	"GSX2"	"MONDO:0020762"	"diencephalic-mesencephalic junction dysplasia syndrome 2"	"MONDO:0020762"	"diencephalic-mesencephalic junction dysplasia syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24959"	"GSX2"	"MONDO:0020762"	"diencephalic-mesencephalic junction dysplasia syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-27 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d6f7f67-63e7-4587-9216-6909f5883de9-2023-02-27T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2d6f7f67-63e7-4587-9216-6909f5883de9"	"2024-04-21"
"GENCC_000102-HGNC_14880-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:14880"	"GTPBP3"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14880"	"GTPBP3"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-02-12 20:32:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d1b0a47-e62d-48dd-8e0d-f2b1aff014a7-2020-02-12T203256.857Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0d1b0a47-e62d-48dd-8e0d-f2b1aff014a7"	"2024-04-21"
"GENCC_000102-HGNC_4689-MONDO_0100441-HP_0000006-GENCC_100001"	"HGNC:4689"	"GUCY2D"	"MONDO:0100441"	"GUCY2D-related dominant retinopathy"	"MONDO:0100441"	"GUCY2D-related dominant retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4689"	"GUCY2D"	"MONDO:0100441"	"GUCY2D-related dominant retinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-28 19:56:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8816f73d-0432-4d50-bbb6-74a8f1da96ae-2022-05-28T195616.735Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8816f73d-0432-4d50-bbb6-74a8f1da96ae"	"2024-04-21"
"GENCC_000102-HGNC_4689-MONDO_0100453-HP_0000007-GENCC_100001"	"HGNC:4689"	"GUCY2D"	"MONDO:0100453"	"GUCY2D-related recessive retinopathy"	"MONDO:0100453"	"GUCY2D-related recessive retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4689"	"GUCY2D"	"MONDO:0100453"	"GUCY2D-related recessive retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-27 23:22:10"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcb8350d-c57f-43e3-9e9f-d059ebbf61c9-2022-03-27T232210.761Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dcb8350d-c57f-43e3-9e9f-d059ebbf61c9"	"2024-04-21"
"GENCC_000102-HGNC_4696-MONDO_0009662-HP_0000007-GENCC_100001"	"HGNC:4696"	"GUSB"	"MONDO:0009662"	"mucopolysaccharidosis type 7"	"MONDO:0009662"	"mucopolysaccharidosis type 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4696"	"GUSB"	"MONDO:0009662"	"mucopolysaccharidosis type 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aae0c8bd-5ff2-48a1-90e9-9038dcb44bc3-2022-07-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aae0c8bd-5ff2-48a1-90e9-9038dcb44bc3"	"2024-04-21"
"GENCC_000102-HGNC_4699-MONDO_0014526-HP_0000007-GENCC_100001"	"HGNC:4699"	"GYG1"	"MONDO:0014526"	"polyglucosan body myopathy type 2"	"MONDO:0014526"	"polyglucosan body myopathy type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4699"	"GYG1"	"MONDO:0014526"	"polyglucosan body myopathy type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5a4546e-f7a6-4d4a-bd0d-763e2b7dca74-2023-03-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c5a4546e-f7a6-4d4a-bd0d-763e2b7dca74"	"2024-04-21"
"GENCC_000102-HGNC_4706-MONDO_0012693-HP_0000007-GENCC_100001"	"HGNC:4706"	"GYS1"	"MONDO:0012693"	"glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"MONDO:0012693"	"glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4706"	"GYS1"	"MONDO:0012693"	"glycogen storage disease due to muscle and heart glycogen synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-12 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b85c829-f66a-4c23-8a59-58f17bdaefb0-2024-02-12T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4b85c829-f66a-4c23-8a59-58f17bdaefb0"	"2024-04-21"
"GENCC_000102-HGNC_4718-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:4718"	"H1-4"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4718"	"H1-4"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-03 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd0a9f58-4fb1-4904-9c38-c3e4b70c536e-2023-05-03T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cd0a9f58-4fb1-4904-9c38-c3e4b70c536e"	"2024-04-21"
"GENCC_000102-HGNC_4764-MONDO_0030606-HP_0000006-GENCC_100001"	"HGNC:4764"	"H3-3A"	"MONDO:0030606"	"Bryant-Li-Bhoj neurodevelopmental syndrome 1"	"MONDO:0030606"	"Bryant-Li-Bhoj neurodevelopmental syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4764"	"H3-3A"	"MONDO:0030606"	"Bryant-Li-Bhoj neurodevelopmental syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92b54362-8c84-407b-bf92-5f67bee55ed3-2024-03-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"92b54362-8c84-407b-bf92-5f67bee55ed3"	"2024-04-21"
"GENCC_000102-HGNC_4796-MONDO_0060554-HP_0000007-GENCC_100001"	"HGNC:4796"	"HAAO"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4796"	"HAAO"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89484d6b-0af1-4b77-9dcb-95c18331e3b7-2022-06-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"89484d6b-0af1-4b77-9dcb-95c18331e3b7"	"2024-04-21"
"GENCC_000102-HGNC_9639-MONDO_0019952-HP_0000007-GENCC_100001"	"HGNC:9639"	"HACD1"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9639"	"HACD1"	"MONDO:0019952"	"congenital myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10c52aaf-cd58-4448-bac7-12b653bfa962-2021-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10c52aaf-cd58-4448-bac7-12b653bfa962"	"2024-04-21"
"GENCC_000102-HGNC_4799-MONDO_0009278-HP_0000007-GENCC_100001"	"HGNC:4799"	"HADH"	"MONDO:0009278"	"hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"	"MONDO:0009278"	"hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4799"	"HADH"	"MONDO:0009278"	"obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2f238b9-4eb5-426c-a27a-ecb7b468d9e4-2018-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c2f238b9-4eb5-426c-a27a-ecb7b468d9e4"	"2024-04-21"
"GENCC_000102-HGNC_4801-MONDO_0012173-HP_0000007-GENCC_100001"	"HGNC:4801"	"HADHA"	"MONDO:0012173"	"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"MONDO:0012173"	"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4801"	"HADHA"	"MONDO:0012173"	"long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8a5e15b-21f7-49cc-987c-5f3585742bbe-2018-02-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c8a5e15b-21f7-49cc-987c-5f3585742bbe"	"2024-04-21"
"GENCC_000102-HGNC_4803-MONDO_0012172-HP_0000007-GENCC_100001"	"HGNC:4803"	"HADHB"	"MONDO:0012172"	"mitochondrial trifunctional protein deficiency"	"MONDO:0012172"	"mitochondrial trifunctional protein deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4803"	"HADHB"	"MONDO:0012172"	"mitochondrial trifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65cb0124-8476-422c-924f-15fac7c95592-2018-05-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"65cb0124-8476-422c-924f-15fac7c95592"	"2024-04-21"
"GENCC_000102-HGNC_4806-MONDO_0009345-HP_0000007-GENCC_100004"	"HGNC:4806"	"HAL"	"MONDO:0009345"	"histidinemia"	"MONDO:0009345"	"histidinemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4806"	"HAL"	"MONDO:0009345"	"histidinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5764eb8-2aad-419e-be57-99f8c6859ebb-2023-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c5764eb8-2aad-419e-be57-99f8c6859ebb"	"2024-04-21"
"GENCC_000102-HGNC_4807-MONDO_0005453-HP_0000006-GENCC_100003"	"HGNC:4807"	"HAND1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4807"	"HAND1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a70bdb1-a3fc-45c5-aabb-4d2829fa6f29-2023-04-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7a70bdb1-a3fc-45c5-aabb-4d2829fa6f29"	"2024-04-21"
"GENCC_000102-HGNC_4808-MONDO_0800476-HP_0000006-GENCC_100003"	"HGNC:4808"	"HAND2"	"MONDO:0800476"	"HAND2 related congenital heart defect"	"MONDO:0800476"	"HAND2 related congenital heart defect"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4808"	"HAND2"	"MONDO:0800476"	"HAND2 related congenital heart defect"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29254c37-49c2-4d29-918f-c106989eadba-2023-07-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29254c37-49c2-4d29-918f-c106989eadba"	"2024-04-21"
"GENCC_000102-HGNC_4816-MONDO_0016485-HP_0000007-GENCC_100006"	"HGNC:4816"	"HARS1"	"MONDO:0016485"	"Usher syndrome type 3"	"MONDO:0016485"	"Usher syndrome type 3"	"GENCC:100006"	"Refuted Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4816"	"HARS1"	"MONDO:0016485"	"Usher syndrome type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2018-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca3372fa-f205-44e5-8bd9-6c64c40ebd93-2018-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca3372fa-f205-44e5-8bd9-6c64c40ebd93"	"2024-04-21"
"GENCC_000102-HGNC_4817-MONDO_0013972-HP_0000007-GENCC_100004"	"HGNC:4817"	"HARS2"	"MONDO:0013972"	"Perrault syndrome 2"	"MONDO:0013972"	"Perrault syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4817"	"HARS2"	"MONDO:0013972"	"Perrault syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-05-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c5ed5f6-4068-4e15-a195-6098e4ee2093-2018-05-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5c5ed5f6-4068-4e15-a195-6098e4ee2093"	"2024-04-21"
"GENCC_000102-HGNC_4823-MONDO_0020835-HP_0000006-GENCC_100004"	"HGNC:4823"	"HBA1"	"MONDO:0020835"	"methemoglobinemia, alpha type"	"MONDO:0020835"	"methemoglobinemia, alpha type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4823"	"HBA1"	"MONDO:0020835"	"methemoglobinemia, alpha type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_599e57aa-17fd-40f4-9e13-a1968e57e9ed-2024-03-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"599e57aa-17fd-40f4-9e13-a1968e57e9ed"	"2024-04-21"
"GENCC_000102-HGNC_4824-MONDO_0020835-HP_0000006-GENCC_100004"	"HGNC:4824"	"HBA2"	"MONDO:0020835"	"methemoglobinemia, alpha type"	"MONDO:0020835"	"methemoglobinemia, alpha type"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4824"	"HBA2"	"MONDO:0020835"	"methemoglobinemia, alpha type"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12bfc99c-f8d8-4045-98ba-17254b56decc-2024-03-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"12bfc99c-f8d8-4045-98ba-17254b56decc"	"2024-04-21"
"GENCC_000102-HGNC_4824-MONDO_0011399-HP_0000007-GENCC_100001"	"HGNC:4824"	"HBA2"	"MONDO:0011399"	"alpha thalassemia spectrum"	"MONDO:0011399"	"alpha thalassemia spectrum"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4824"	"HBA2"	"MONDO:0011399"	"alpha thalassemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab18a814-6fa8-4dc5-8448-9c2c196e24c7-2023-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab18a814-6fa8-4dc5-8448-9c2c196e24c7"	"2024-04-21"
"GENCC_000102-HGNC_4827-MONDO_0013517-HP_0000007-GENCC_100001"	"HGNC:4827"	"HBB"	"MONDO:0013517"	"beta-thalassemia HBB/LCRB"	"MONDO:0013517"	"beta-thalassemia HBB/LCRB"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4827"	"HBB"	"MONDO:0013517"	"beta-thalassemia HBB/LCRB"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10e10aac-d9cc-4422-8fb9-b206e642bb27-2023-04-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10e10aac-d9cc-4422-8fb9-b206e642bb27"	"2024-04-21"
"GENCC_000102-HGNC_4827-MONDO_0018023-HP_0000006-GENCC_100001"	"HGNC:4827"	"HBB"	"MONDO:0018023"	"hemoglobin M disease"	"MONDO:0018023"	"hemoglobin M disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4827"	"HBB"	"MONDO:0018023"	"hemoglobin M disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1165f12f-3e9d-41c6-b7c4-1a52037cf017-2024-03-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1165f12f-3e9d-41c6-b7c4-1a52037cf017"	"2024-04-21"
"GENCC_000102-HGNC_4827-MONDO_0017146-HP_0000007-GENCC_100001"	"HGNC:4827"	"HBB"	"MONDO:0017146"	"sickle cell disease and related diseases"	"MONDO:0017146"	"sickle cell disease and related diseases"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4827"	"HBB"	"MONDO:0017146"	"obsolete sickle cell disease and related diseases"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3648afbb-2a90-43f1-b572-0109fa188416-2023-08-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3648afbb-2a90-43f1-b572-0109fa188416"	"2024-04-21"
"GENCC_000102-HGNC_4827-MONDO_0011381-HP_0000006-GENCC_100001"	"HGNC:4827"	"HBB"	"MONDO:0011381"	"dominant beta-thalassemia"	"MONDO:0011381"	"dominant beta-thalassemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4827"	"HBB"	"MONDO:0011381"	"dominant beta-thalassemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b52b6f04-67a6-4c4b-9765-2067e3b1e297-2023-03-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b52b6f04-67a6-4c4b-9765-2067e3b1e297"	"2024-04-21"
"GENCC_000102-HGNC_4839-MONDO_0100284-HP_0001417-GENCC_100001"	"HGNC:4839"	"HCFC1"	"MONDO:0100284"	"X-linked intellectual disability"	"MONDO:0100284"	"X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4839"	"HCFC1"	"MONDO:0100284"	"X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_023defeb-36f4-4e54-ba8f-e2c9537e933c-2021-03-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"023defeb-36f4-4e54-ba8f-e2c9537e933c"	"2024-04-21"
"GENCC_000102-HGNC_4845-MONDO_0018214-HP_0000006-GENCC_100001"	"HGNC:4845"	"HCN1"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4845"	"HCN1"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-03 08:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0932fa23-e0d2-4fa8-80ac-1ab9bfac974d-2023-01-03T080000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0932fa23-e0d2-4fa8-80ac-1ab9bfac974d"	"2024-04-21"
"GENCC_000102-HGNC_16882-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:16882"	"HCN4"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16882"	"HCN4"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10150"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10150"	"2024-04-21"
"GENCC_000102-HGNC_16882-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:16882"	"HCN4"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16882"	"HCN4"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8262"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8262"	"2024-04-21"
"GENCC_000102-HGNC_13315-MONDO_0016033-HP_0001417-GENCC_100001"	"HGNC:13315"	"HDAC8"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:13315"	"HDAC8"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7d29159-4c90-488e-a4e1-b006d70ae762-2018-09-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7d29159-4c90-488e-a4e1-b006d70ae762"	"2024-04-21"
"GENCC_000102-HGNC_29853-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:29853"	"HECW2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29853"	"HECW2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_191cff25-f54c-4628-87f6-13a5daaec847-2023-01-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"191cff25-f54c-4628-87f6-13a5daaec847"	"2024-04-21"
"GENCC_000102-HGNC_29853-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:29853"	"HECW2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29853"	"HECW2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-01-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d23468a-c068-43cd-968e-56e71d941eef-2023-01-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2d23468a-c068-43cd-968e-56e71d941eef"	"2024-04-21"
"GENCC_000102-HGNC_4861-MONDO_0014829-HP_0000007-GENCC_100003"	"HGNC:4861"	"HELLS"	"MONDO:0014829"	"immunodeficiency-centromeric instability-facial anomalies syndrome 4"	"MONDO:0014829"	"immunodeficiency-centromeric instability-facial anomalies syndrome 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4861"	"HELLS"	"MONDO:0014829"	"immunodeficiency-centromeric instability-facial anomalies syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9414c2ab-4eab-4ee0-9a68-ba78a5774f0a-2023-04-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9414c2ab-4eab-4ee0-9a68-ba78a5774f0a"	"2024-04-21"
"GENCC_000102-HGNC_26361-MONDO_0013491-HP_0000006-GENCC_100001"	"HGNC:26361"	"HEPACAM"	"MONDO:0013491"	"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability"	"MONDO:0013491"	"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26361"	"HEPACAM"	"MONDO:0013491"	"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-12 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da28582-9929-4fcd-8c77-13dc1705b168-2023-01-12T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3da28582-9929-4fcd-8c77-13dc1705b168"	"2024-04-21"
"GENCC_000102-HGNC_26361-MONDO_0013490-HP_0000007-GENCC_100001"	"HGNC:26361"	"HEPACAM"	"MONDO:0013490"	"megalencephalic leukoencephalopathy with subcortical cysts 2A"	"MONDO:0013490"	"megalencephalic leukoencephalopathy with subcortical cysts 2A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26361"	"HEPACAM"	"MONDO:0013490"	"megalencephalic leukoencephalopathy with subcortical cysts 2A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-12 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7917eeb8-f47a-4828-80ce-ba18f697c6a0-2023-01-12T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7917eeb8-f47a-4828-80ce-ba18f697c6a0"	"2024-04-21"
"GENCC_000102-HGNC_4878-MONDO_0010100-HP_0000007-GENCC_100001"	"HGNC:4878"	"HEXA"	"MONDO:0010100"	"Tay-Sachs disease"	"MONDO:0010100"	"Tay-Sachs disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4878"	"HEXA"	"MONDO:0010100"	"Tay-Sachs disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f7530b5-af31-40f9-ac18-a1b4d404285a-2020-05-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f7530b5-af31-40f9-ac18-a1b4d404285a"	"2024-04-21"
"GENCC_000102-HGNC_4879-MONDO_0010006-HP_0000007-GENCC_100001"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"MONDO:0010006"	"Sandhoff disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4879"	"HEXB"	"MONDO:0010006"	"Sandhoff disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f53d03d-f936-4628-ab75-351ae4da012a-2022-09-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f53d03d-f936-4628-ab75-351ae4da012a"	"2024-04-21"
"GENCC_000102-HGNC_4892-MONDO_0008753-HP_0000007-GENCC_100001"	"HGNC:4892"	"HGD"	"MONDO:0008753"	"alkaptonuria"	"MONDO:0008753"	"alkaptonuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4892"	"HGD"	"MONDO:0008753"	"alkaptonuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:41:25"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5186836d-d9c6-4829-a0c9-59548460d6f2-2020-06-29T174125.541Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5186836d-d9c6-4829-a0c9-59548460d6f2"	"2024-04-21"
"GENCC_000102-HGNC_4893-MONDO_0019497-HP_0000007-GENCC_100003"	"HGNC:4893"	"HGF"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4893"	"HGF"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-04-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8828a306-1262-4bbf-9661-f3d13d0f44a7-2022-04-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8828a306-1262-4bbf-9661-f3d13d0f44a7"	"2024-04-21"
"GENCC_000102-HGNC_26527-MONDO_0009657-HP_0000007-GENCC_100001"	"HGNC:26527"	"HGSNAT"	"MONDO:0009657"	"mucopolysaccharidosis type 3C"	"MONDO:0009657"	"mucopolysaccharidosis type 3C"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26527"	"HGSNAT"	"MONDO:0009657"	"mucopolysaccharidosis type 3C"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_943b7a75-eb7f-415b-ba80-de6b09cc5a43-2023-12-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"943b7a75-eb7f-415b-ba80-de6b09cc5a43"	"2024-04-21"
"GENCC_000102-HGNC_4907-MONDO_0009371-HP_0000007-GENCC_100004"	"HGNC:4907"	"HIBADH"	"MONDO:0009371"	"3-hydroxyisobutyric aciduria"	"MONDO:0009371"	"3-hydroxyisobutyric aciduria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4907"	"HIBADH"	"MONDO:0009371"	"3-hydroxyisobutyric aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9c11f5a-a86b-4d60-ba51-7c2c8592f60a-2023-03-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d9c11f5a-a86b-4d60-ba51-7c2c8592f60a"	"2024-04-21"
"GENCC_000102-HGNC_4908-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:4908"	"HIBCH"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4908"	"HIBCH"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-14 14:23:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_079ed613-0c28-494f-9852-9baf495f26ba-2021-06-14T142317.786Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"079ed613-0c28-494f-9852-9baf495f26ba"	"2024-04-21"
"GENCC_000102-HGNC_4908-MONDO_0009603-HP_0000007-GENCC_100001"	"HGNC:4908"	"HIBCH"	"MONDO:0009603"	"3-hydroxyisobutyryl-CoA hydrolase deficiency"	"MONDO:0009603"	"3-hydroxyisobutyryl-CoA hydrolase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4908"	"HIBCH"	"MONDO:0009603"	"3-hydroxyisobutyryl-CoA hydrolase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-07 22:24:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26621ace-7c6b-4a1c-8286-02c4cb8a1544-2019-11-07T222437.403Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"26621ace-7c6b-4a1c-8286-02c4cb8a1544"	"2024-04-21"
"GENCC_000102-HGNC_4912-MONDO_0015626-HP_0000007-GENCC_100001"	"HGNC:4912"	"HINT1"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4912"	"HINT1"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-22 20:11:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_170aae71-9b16-49b1-be29-44f98db2f72e-2021-03-22T201109.360Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"170aae71-9b16-49b1-be29-44f98db2f72e"	"2024-04-21"
"GENCC_000102-HGNC_4976-MONDO_0009666-HP_0000007-GENCC_100001"	"HGNC:4976"	"HLCS"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4976"	"HLCS"	"MONDO:0009666"	"holocarboxylase synthetase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-26 17:11:31"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad306285-9588-48e3-a6fa-183db3f01fe9-2021-02-26T171131.548Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ad306285-9588-48e3-a6fa-183db3f01fe9"	"2024-04-21"
"GENCC_000102-HGNC_4982-MONDO_0008294-HP_0032113-GENCC_100001"	"HGNC:4982"	"HMBS"	"MONDO:0008294"	"acute intermittent porphyria"	"MONDO:0008294"	"acute intermittent porphyria"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:4982"	"HMBS"	"MONDO:0008294"	"acute intermittent porphyria"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eab4b1f6-2902-4ed3-9002-37c578aeaaba-2022-05-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eab4b1f6-2902-4ed3-9002-37c578aeaaba"	"2024-04-21"
"GENCC_000102-HGNC_5005-MONDO_0009520-HP_0000007-GENCC_100001"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5005"	"HMGCL"	"MONDO:0009520"	"3-hydroxy-3-methylglutaric aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4d084e5-a740-4bfd-a850-d6db900d4a4e-2018-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f4d084e5-a740-4bfd-a850-d6db900d4a4e"	"2024-04-21"
"GENCC_000102-HGNC_5008-MONDO_0011614-HP_0000007-GENCC_100001"	"HGNC:5008"	"HMGCS2"	"MONDO:0011614"	"3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	"MONDO:0011614"	"3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5008"	"HMGCS2"	"MONDO:0011614"	"3-hydroxy-3-methylglutaryl-CoA synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3f49254-4635-4961-83b9-31c7ebc7f159-2018-05-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b3f49254-4635-4961-83b9-31c7ebc7f159"	"2024-04-21"
"GENCC_000102-HGNC_5013-MONDO_0013536-HP_0000007-GENCC_100002"	"HGNC:5013"	"HMOX1"	"MONDO:0013536"	"heme oxygenase 1 deficiency"	"MONDO:0013536"	"heme oxygenase 1 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5013"	"HMOX1"	"MONDO:0013536"	"heme oxygenase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-12-20 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f1a1080-6e62-4c89-9500-e5c74e078e06-2023-12-20T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9f1a1080-6e62-4c89-9500-e5c74e078e06"	"2024-04-21"
"GENCC_000102-HGNC_5017-MONDO_0012802-HP_0000007-GENCC_100001"	"HGNC:5017"	"HMX1"	"MONDO:0012802"	"oculoauricular syndrome"	"MONDO:0012802"	"oculoauricular syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5017"	"HMX1"	"MONDO:0012802"	"oculoauricular syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebf66ec9-77a4-4e48-83a4-970639ad5373-2021-05-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ebf66ec9-77a4-4e48-83a4-970639ad5373"	"2024-04-21"
"GENCC_000102-HGNC_11621-MONDO_0015967-HP_0000006-GENCC_100001"	"HGNC:11621"	"HNF1A"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11621"	"HNF1A"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f6d71c6-6595-49bf-a50e-fce726b22088-2018-10-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2f6d71c6-6595-49bf-a50e-fce726b22088"	"2024-04-21"
"GENCC_000102-HGNC_11630-MONDO_0007669-HP_0000006-GENCC_100001"	"HGNC:11630"	"HNF1B"	"MONDO:0007669"	"renal cysts and diabetes syndrome"	"MONDO:0007669"	"renal cysts and diabetes syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11630"	"HNF1B"	"MONDO:0007669"	"renal cysts and diabetes syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4174ea0a-6901-4070-ad93-d92614fd55c0-2021-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4174ea0a-6901-4070-ad93-d92614fd55c0"	"2024-04-21"
"GENCC_000102-HGNC_5024-MONDO_0015967-HP_0000006-GENCC_100001"	"HGNC:5024"	"HNF4A"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5024"	"HNF4A"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98cb808e-02d3-4378-8e6b-9b1b2883cc65-2019-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"98cb808e-02d3-4378-8e6b-9b1b2883cc65"	"2024-04-21"
"GENCC_000102-HGNC_5033-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:5033"	"HNRNPA2B1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5033"	"HNRNPA2B1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-12-15 18:51:59"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ffe711b-1ff6-4b11-b329-c0f820904764-2021-12-15T185159.600Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1ffe711b-1ff6-4b11-b329-c0f820904764"	"2024-04-21"
"GENCC_000102-HGNC_5037-MONDO_0015151-HP_0000006-GENCC_100003"	"HGNC:5037"	"HNRNPDL"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5037"	"HNRNPDL"	"MONDO:0015151"	"muscular dystrophy, limb-girdle, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10c69d38-c981-4679-81ab-c656f435e1ed-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10c69d38-c981-4679-81ab-c656f435e1ed"	"2024-04-21"
"GENCC_000102-HGNC_5044-MONDO_0018681-HP_0000006-GENCC_100001"	"HGNC:5044"	"HNRNPK"	"MONDO:0018681"	"neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome"	"MONDO:0018681"	"neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5044"	"HNRNPK"	"MONDO:0018681"	"neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-20 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1adc74c-9bbc-48fc-bbbf-1159c0944108-2021-12-20T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1adc74c-9bbc-48fc-bbbf-1159c0944108"	"2024-04-21"
"GENCC_000102-HGNC_5047-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:5047"	"HNRNPR"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5047"	"HNRNPR"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_457f4be2-fe32-4878-b367-7fa614f78c63-2023-05-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"457f4be2-fe32-4878-b367-7fa614f78c63"	"2024-04-21"
"GENCC_000102-HGNC_5048-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:5048"	"HNRNPU"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5048"	"HNRNPU"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-11 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2c82248-c128-4d3e-802a-7f3295d14455-2022-10-11T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b2c82248-c128-4d3e-802a-7f3295d14455"	"2024-04-21"
"GENCC_000102-HGNC_17513-MONDO_0019497-HP_0000006-GENCC_100003"	"HGNC:17513"	"HOMER2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17513"	"HOMER2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-08-31 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9158c2a6-f11b-47b4-ac7d-45471f7255a1-2020-08-31T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9158c2a6-f11b-47b4-ac7d-45471f7255a1"	"2024-04-21"
"GENCC_000102-HGNC_5099-MONDO_0000508-HP_0000007-GENCC_100001"	"HGNC:5099"	"HOXA1"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5099"	"HOXA1"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e0e605f-c82a-4e34-b913-8dc6b72b4881-2019-06-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1e0e605f-c82a-4e34-b913-8dc6b72b4881"	"2024-04-21"
"GENCC_000102-HGNC_5101-MONDO_0024558-HP_0000006-GENCC_100004"	"HGNC:5101"	"HOXA11"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5101"	"HOXA11"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-28 18:14:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48ef111f-28fc-4970-a0ca-8387e9ec2d0e-2021-04-28T181451.054Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"48ef111f-28fc-4970-a0ca-8387e9ec2d0e"	"2024-04-21"
"GENCC_000102-HGNC_5147-MONDO_0007700-HP_0000006-GENCC_100004"	"HGNC:5147"	"HPD"	"MONDO:0007700"	"hawkinsinuria"	"MONDO:0007700"	"hawkinsinuria"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5147"	"HPD"	"MONDO:0007700"	"hawkinsinuria"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6819b0ea-9f21-4f91-ae92-133d97fcf87b-2023-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6819b0ea-9f21-4f91-ae92-133d97fcf87b"	"2024-04-21"
"GENCC_000102-HGNC_5147-MONDO_0010162-HP_0000007-GENCC_100001"	"HGNC:5147"	"HPD"	"MONDO:0010162"	"tyrosinemia type III"	"MONDO:0010162"	"tyrosinemia type III"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5147"	"HPD"	"MONDO:0010162"	"tyrosinemia type III"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:36:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89eb4236-9243-490b-bc73-fb3b99675eb9-2020-06-29T173606.841Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"89eb4236-9243-490b-bc73-fb3b99675eb9"	"2024-04-21"
"GENCC_000102-HGNC_28242-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:28242"	"HPDL"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28242"	"HPDL"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-30 21:57:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1a484ba-cba2-4a63-8c81-7a8a41c93f9c-2021-06-30T215754.231Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1a484ba-cba2-4a63-8c81-7a8a41c93f9c"	"2024-04-21"
"GENCC_000102-HGNC_5157-MONDO_0010298-HP_0001417-GENCC_100001"	"HGNC:5157"	"HPRT1"	"MONDO:0010298"	"Lesch-Nyhan syndrome"	"MONDO:0010298"	"Lesch-Nyhan syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:5157"	"HPRT1"	"MONDO:0010298"	"Lesch-Nyhan syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f60022bb-5679-4766-ac72-2ddfd0b752ee-2022-07-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f60022bb-5679-4766-ac72-2ddfd0b752ee"	"2024-04-21"
"GENCC_000102-HGNC_5163-MONDO_0008748-HP_0000007-GENCC_100001"	"HGNC:5163"	"HPS1"	"MONDO:0008748"	"Hermansky-Pudlak syndrome 1"	"MONDO:0008748"	"Hermansky-Pudlak syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5163"	"HPS1"	"MONDO:0008748"	"Hermansky-Pudlak syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-22 14:28:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6d44a89-527f-4864-a1e1-dcd0a17000ca-2019-07-22T142842.174Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f6d44a89-527f-4864-a1e1-dcd0a17000ca"	"2024-04-21"
"GENCC_000102-HGNC_15597-MONDO_0013555-HP_0000007-GENCC_100001"	"HGNC:15597"	"HPS3"	"MONDO:0013555"	"Hermansky-Pudlak syndrome 3"	"MONDO:0013555"	"Hermansky-Pudlak syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15597"	"HPS3"	"MONDO:0013555"	"Hermansky-Pudlak syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80370671-df62-4330-89f4-216d350e5958-2020-02-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"80370671-df62-4330-89f4-216d350e5958"	"2024-04-21"
"GENCC_000102-HGNC_15844-MONDO_0013556-HP_0000007-GENCC_100001"	"HGNC:15844"	"HPS4"	"MONDO:0013556"	"Hermansky-Pudlak syndrome 4"	"MONDO:0013556"	"Hermansky-Pudlak syndrome 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15844"	"HPS4"	"MONDO:0013556"	"Hermansky-Pudlak syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3649fe18-730d-4d46-ad60-b70d421abc02-2020-05-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3649fe18-730d-4d46-ad60-b70d421abc02"	"2024-04-21"
"GENCC_000102-HGNC_17022-MONDO_0013557-HP_0000007-GENCC_100001"	"HGNC:17022"	"HPS5"	"MONDO:0013557"	"Hermansky-Pudlak syndrome 5"	"MONDO:0013557"	"Hermansky-Pudlak syndrome 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17022"	"HPS5"	"MONDO:0013557"	"Hermansky-Pudlak syndrome 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a761e746-824f-496c-8d9f-4f8cd50423c3-2020-10-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a761e746-824f-496c-8d9f-4f8cd50423c3"	"2024-04-21"
"GENCC_000102-HGNC_18817-MONDO_0013558-HP_0000007-GENCC_100001"	"HGNC:18817"	"HPS6"	"MONDO:0013558"	"Hermansky-Pudlak syndrome 6"	"MONDO:0013558"	"Hermansky-Pudlak syndrome 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18817"	"HPS6"	"MONDO:0013558"	"Hermansky-Pudlak syndrome 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_602ae8f1-9e7f-4cc6-bf70-d572d98828c5-2020-11-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"602ae8f1-9e7f-4cc6-bf70-d572d98828c5"	"2024-04-21"
"GENCC_000102-HGNC_5173-MONDO_0009026-HP_0000006-GENCC_100001"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5173"	"HRAS"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a40ab43-3c9f-45c0-9ec0-0371d6f0d5c8-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6a40ab43-3c9f-45c0-9ec0-0371d6f0d5c8"	"2024-04-21"
"GENCC_000102-HGNC_5173-MONDO_0011899-HP_0000006-GENCC_100005"	"HGNC:5173"	"HRAS"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5173"	"HRAS"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-07-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94630309-c540-48b3-a27f-0ee1891091c1-2018-07-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"94630309-c540-48b3-a27f-0ee1891091c1"	"2024-04-21"
"GENCC_000102-HGNC_5181-MONDO_0013143-HP_0000006-GENCC_100003"	"HGNC:5181"	"HRG"	"MONDO:0013143"	"hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"	"MONDO:0013143"	"hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5181"	"HRG"	"MONDO:0013143"	"hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-12-15 17:30:40"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2604a64-e36e-4512-83a7-e8202ccdb593-2021-12-15T173040.572Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a2604a64-e36e-4512-83a7-e8202ccdb593"	"2024-04-21"
"GENCC_000102-HGNC_4800-MONDO_0010327-HP_0001417-GENCC_100001"	"HGNC:4800"	"HSD17B10"	"MONDO:0010327"	"HSD10 mitochondrial disease"	"MONDO:0010327"	"HSD10 mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:4800"	"HSD17B10"	"MONDO:0010327"	"HSD10 mitochondrial disease"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9232b352-a845-4404-8a98-34cb6ad6ff0e-2018-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9232b352-a845-4404-8a98-34cb6ad6ff0e"	"2024-04-21"
"GENCC_000102-HGNC_5213-MONDO_0009855-HP_0000007-GENCC_100001"	"HGNC:5213"	"HSD17B4"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5213"	"HSD17B4"	"MONDO:0009855"	"d-bifunctional protein deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b992de69-49b3-496d-a83a-5bcc427fdf98-2020-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b992de69-49b3-496d-a83a-5bcc427fdf98"	"2024-04-21"
"GENCC_000102-HGNC_5213-MONDO_0017312-HP_0000007-GENCC_100001"	"HGNC:5213"	"HSD17B4"	"MONDO:0017312"	"Perrault syndrome"	"MONDO:0017312"	"Perrault syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5213"	"HSD17B4"	"MONDO:0017312"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc9308c-2310-4e0a-9354-667dbd3c7d5d-2018-05-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dbc9308c-2310-4e0a-9354-667dbd3c7d5d"	"2024-04-21"
"GENCC_000102-HGNC_18324-MONDO_0011906-HP_0000007-GENCC_100001"	"HGNC:18324"	"HSD3B7"	"MONDO:0011906"	"congenital bile acid synthesis defect 1"	"MONDO:0011906"	"congenital bile acid synthesis defect 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18324"	"HSD3B7"	"MONDO:0011906"	"congenital bile acid synthesis defect 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca1a2268-641c-422f-b065-8866af654d94-2022-07-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca1a2268-641c-422f-b065-8866af654d94"	"2024-04-21"
"GENCC_000102-HGNC_5246-MONDO_0011687-HP_0000006-GENCC_100001"	"HGNC:5246"	"HSPB1"	"MONDO:0011687"	"Charcot-Marie-Tooth disease axonal type 2F"	"MONDO:0011687"	"Charcot-Marie-Tooth disease axonal type 2F"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5246"	"HSPB1"	"MONDO:0011687"	"Charcot-Marie-Tooth disease axonal type 2F"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bec365e-7832-41f1-89cc-48b8ab570c76-2022-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1bec365e-7832-41f1-89cc-48b8ab570c76"	"2024-04-21"
"GENCC_000102-HGNC_30171-MONDO_0015362-HP_0000006-GENCC_100001"	"HGNC:30171"	"HSPB8"	"MONDO:0015362"	"neuronopathy, distal hereditary motor, autosomal dominant"	"MONDO:0015362"	"neuronopathy, distal hereditary motor, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30171"	"HSPB8"	"MONDO:0015362"	"neuronopathy, distal hereditary motor, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-22 20:18:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_044a2465-8e0a-44ff-8d00-1ec3a76183c8-2021-03-22T201855.441Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"044a2465-8e0a-44ff-8d00-1ec3a76183c8"	"2024-04-21"
"GENCC_000102-HGNC_5273-MONDO_0100435-HP_0000007-GENCC_100001"	"HGNC:5273"	"HSPG2"	"MONDO:0100435"	"Schwartz-Jampel syndrome type 1"	"MONDO:0100435"	"Schwartz-Jampel syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5273"	"HSPG2"	"MONDO:0100435"	"Schwartz-Jampel syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-21 03:03:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a69e83a2-d914-4829-b285-c0ab0e4798d3-2022-05-21T030306.062Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a69e83a2-d914-4829-b285-c0ab0e4798d3"	"2024-04-21"
"GENCC_000102-HGNC_5273-MONDO_0009140-HP_0000007-GENCC_100001"	"HGNC:5273"	"HSPG2"	"MONDO:0009140"	"Silverman-Handmaker type dyssegmental dysplasia"	"MONDO:0009140"	"Silverman-Handmaker type dyssegmental dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5273"	"HSPG2"	"MONDO:0009140"	"Silverman-Handmaker type dyssegmental dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-21 03:00:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b601b27a-7ba4-4111-a524-b55cbb86eaa5-2022-05-21T030011.112Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b601b27a-7ba4-4111-a524-b55cbb86eaa5"	"2024-04-21"
"GENCC_000102-HGNC_14348-MONDO_0044723-HP_0000007-GENCC_100001"	"HGNC:14348"	"HTRA2"	"MONDO:0044723"	"3-methylglutaconic aciduria type 8"	"MONDO:0044723"	"3-methylglutaconic aciduria type 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14348"	"HTRA2"	"MONDO:0044723"	"3-methylglutaconic aciduria type 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0e86ea2-d848-442c-8bef-0818e39f3752-2022-07-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d0e86ea2-d848-442c-8bef-0818e39f3752"	"2024-04-21"
"GENCC_000102-HGNC_4851-MONDO_0007739-HP_0000006-GENCC_100001"	"HGNC:4851"	"HTT"	"MONDO:0007739"	"Huntington disease"	"MONDO:0007739"	"Huntington disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4851"	"HTT"	"MONDO:0007739"	"Huntington disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-08 19:39:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_617c18ee-9476-4bc0-b403-20bc55150c7c-2021-11-08T193955.489Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"617c18ee-9476-4bc0-b403-20bc55150c7c"	"2024-04-21"
"GENCC_000102-HGNC_30892-MONDO_0019181-HP_0001417-GENCC_100001"	"HGNC:30892"	"HUWE1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:30892"	"HUWE1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ded2ea2f-63ff-428a-8061-7c62c276163b-2017-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ded2ea2f-63ff-428a-8061-7c62c276163b"	"2024-04-21"
"GENCC_000102-HGNC_5320-MONDO_0011093-HP_0000007-GENCC_100003"	"HGNC:5320"	"HYAL1"	"MONDO:0011093"	"mucopolysaccharidosis type 9"	"MONDO:0011093"	"mucopolysaccharidosis type 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5320"	"HYAL1"	"MONDO:0011093"	"mucopolysaccharidosis type 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01141943-dabb-4218-a147-657c69679ec3-2022-12-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"01141943-dabb-4218-a147-657c69679ec3"	"2024-04-21"
"GENCC_000102-HGNC_19368-MONDO_0012088-HP_0000007-GENCC_100001"	"HGNC:19368"	"HYDIN"	"MONDO:0012088"	"primary ciliary dyskinesia 5"	"MONDO:0012088"	"primary ciliary dyskinesia 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19368"	"HYDIN"	"MONDO:0012088"	"primary ciliary dyskinesia 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-22 18:34:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c491ab7-496f-43b9-9bca-500901cb686d-2022-02-22T183411.247Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6c491ab7-496f-43b9-9bca-500901cb686d"	"2024-04-21"
"GENCC_000102-HGNC_34403-MONDO_0017351-HP_0000005-GENCC_100008"	"HGNC:34403"	"HYKK"	"MONDO:0017351"	"inborn disorder of lysine and hydroxylysine metabolism"	"MONDO:0017351"	"inborn disorder of lysine and hydroxylysine metabolism"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:34403"	"HYKK"	"MONDO:0017351"	"inborn disorder of lysine and hydroxylysine metabolism"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2023-07-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60c28393-bd46-4da4-9700-ce2fb005377b-2023-07-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"60c28393-bd46-4da4-9700-ce2fb005377b"	"2024-04-21"
"GENCC_000102-HGNC_29685-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:29685"	"IARS2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29685"	"IARS2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-11-25 15:44:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50877212-c671-406b-8cb6-195c7369a96c-2019-11-25T154442.667Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"50877212-c671-406b-8cb6-195c7369a96c"	"2024-04-21"
"GENCC_000102-HGNC_27302-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:27302"	"IBA57"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:27302"	"IBA57"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a005d270-eb33-4843-9ea8-2ee58f443437-2023-07-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a005d270-eb33-4843-9ea8-2ee58f443437"	"2024-04-21"
"GENCC_000102-HGNC_5351-MONDO_0015517-HP_0000007-GENCC_100001"	"HGNC:5351"	"ICOS"	"MONDO:0015517"	"common variable immunodeficiency"	"MONDO:0015517"	"common variable immunodeficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5351"	"ICOS"	"MONDO:0015517"	"common variable immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-29 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51864ec9-27d9-4a94-9524-d6828b17361d-2022-11-29T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"51864ec9-27d9-4a94-9524-d6828b17361d"	"2024-04-21"
"GENCC_000102-HGNC_17087-MONDO_0015131-HP_0000007-GENCC_100003"	"HGNC:17087"	"ICOSLG"	"MONDO:0015131"	"combined immunodeficiency"	"MONDO:0015131"	"combined immunodeficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17087"	"ICOSLG"	"MONDO:0015131"	"combined immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_312b156d-fc56-48da-9d10-1cd034afbb84-2023-04-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"312b156d-fc56-48da-9d10-1cd034afbb84"	"2024-04-21"
"GENCC_000102-HGNC_5361-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:5361"	"ID2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5361"	"ID2"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-11-27 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e68cc0e-bb24-4363-a94e-858cf4c43de5-2023-11-27T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0e68cc0e-bb24-4363-a94e-858cf4c43de5"	"2024-04-21"
"GENCC_000102-HGNC_5383-MONDO_0044970-HP_0000006-GENCC_100001"	"HGNC:5383"	"IDH2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5383"	"IDH2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91787b5b-8185-48e6-a437-9162c039b454-2023-01-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"91787b5b-8185-48e6-a437-9162c039b454"	"2024-04-21"
"GENCC_000102-HGNC_5385-MONDO_0800393-HP_0000007-GENCC_100003"	"HGNC:5385"	"IDH3B"	"MONDO:0800393"	"IDH3B-related retinopathy"	"MONDO:0800393"	"IDH3B-related retinopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5385"	"IDH3B"	"MONDO:0800393"	"IDH3B-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5617e337-aa89-44a0-afe0-e142ced68619-2022-12-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5617e337-aa89-44a0-afe0-e142ced68619"	"2024-04-21"
"GENCC_000102-HGNC_5389-MONDO_0010674-HP_0001417-GENCC_100001"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:5389"	"IDS"	"MONDO:0010674"	"mucopolysaccharidosis type 2"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_753ba7a6-cef5-4665-81e9-306e11c618c5-2018-02-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"753ba7a6-cef5-4665-81e9-306e11c618c5"	"2024-04-21"
"GENCC_000102-HGNC_5391-MONDO_0001586-HP_0000007-GENCC_100001"	"HGNC:5391"	"IDUA"	"MONDO:0001586"	"mucopolysaccharidosis type 1"	"MONDO:0001586"	"mucopolysaccharidosis type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5391"	"IDUA"	"MONDO:0001586"	"mucopolysaccharidosis type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_042f8964-a8e1-4880-b873-73460088e8bf-2020-05-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"042f8964-a8e1-4880-b873-73460088e8bf"	"2024-04-21"
"GENCC_000102-HGNC_13556-MONDO_0021093-HP_0000007-GENCC_100001"	"HGNC:13556"	"IFT122"	"MONDO:0021093"	"cranioectodermal dysplasia 1"	"MONDO:0021093"	"cranioectodermal dysplasia 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13556"	"IFT122"	"MONDO:0021093"	"cranioectodermal dysplasia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-21 04:09:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e4b420a-5df1-4c3c-aca8-a5359de25a5d-2021-10-21T040941.926Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6e4b420a-5df1-4c3c-aca8-a5359de25a5d"	"2024-04-21"
"GENCC_000102-HGNC_29077-MONDO_0004691-HP_0000006-GENCC_100001"	"HGNC:29077"	"IFT140"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29077"	"IFT140"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-04-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40ced6e2-4d01-46b5-acd3-3964013add3b-2024-04-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"40ced6e2-4d01-46b5-acd3-3964013add3b"	"2024-04-21"
"GENCC_000102-HGNC_29077-MONDO_0100509-HP_0000007-GENCC_100001"	"HGNC:29077"	"IFT140"	"MONDO:0100509"	"IFT140-related recessive ciliopathy"	"MONDO:0100509"	"IFT140-related recessive ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29077"	"IFT140"	"MONDO:0100509"	"IFT140-related recessive ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4bc5837-07d2-46e5-836e-500a978bbf25-2022-07-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b4bc5837-07d2-46e5-836e-500a978bbf25"	"2024-04-21"
"GENCC_000102-HGNC_5461-MONDO_0010333-HP_0001417-GENCC_100005"	"HGNC:5461"	"IGBP1"	"MONDO:0010333"	"corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	"MONDO:0010333"	"corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:5461"	"IGBP1"	"MONDO:0010333"	"corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-02-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbeb1651-add0-4a44-87ad-a56c7864f076-2021-02-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dbeb1651-add0-4a44-87ad-a56c7864f076"	"2024-04-21"
"GENCC_000102-HGNC_5466-MONDO_0014663-HP_0000006-GENCC_100001"	"HGNC:5466"	"IGF2"	"MONDO:0014663"	"Silver-Russell syndrome 3"	"MONDO:0014663"	"Silver-Russell syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5466"	"IGF2"	"MONDO:0014663"	"Silver-Russell syndrome 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39e89185-94a4-4f94-ae80-63df06bece69-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"39e89185-94a4-4f94-ae80-63df06bece69"	"2024-04-21"
"GENCC_000102-HGNC_5541-MONDO_0020729-HP_0000007-GENCC_100001"	"HGNC:5541"	"IGHM"	"MONDO:0020729"	"autosomal recessive agammaglobulinemia 1"	"MONDO:0020729"	"autosomal recessive agammaglobulinemia 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5541"	"IGHM"	"MONDO:0020729"	"autosomal recessive agammaglobulinemia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-15 12:06:59"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51719b80-54fb-4a55-a63c-7d7a943da1e3-2021-06-15T120659.636Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"51719b80-54fb-4a55-a63c-7d7a943da1e3"	"2024-04-21"
"GENCC_000102-HGNC_5542-MONDO_0020127-HP_0000007-GENCC_100001"	"HGNC:5542"	"IGHMBP2"	"MONDO:0020127"	"hereditary peripheral neuropathy"	"MONDO:0020127"	"hereditary peripheral neuropathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5542"	"IGHMBP2"	"MONDO:0020127"	"hereditary peripheral neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2717b35a-87a4-4f24-a762-53388db1bcb5-2023-09-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2717b35a-87a4-4f24-a762-53388db1bcb5"	"2024-04-21"
"GENCC_000102-HGNC_5716-MONDO_0013576-HP_0000007-GENCC_100004"	"HGNC:5716"	"IGKC"	"MONDO:0013576"	"recurrent infections associated with rare immunoglobulin isotypes deficiency"	"MONDO:0013576"	"recurrent infections associated with rare immunoglobulin isotypes deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5716"	"IGKC"	"MONDO:0013576"	"recurrent infections associated with rare immunoglobulin isotypes deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-05-18 16:06:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_017e48b4-45d1-4bba-b51c-0f372dbe3a6d-2021-05-18T160657.607Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"017e48b4-45d1-4bba-b51c-0f372dbe3a6d"	"2024-04-21"
"GENCC_000102-HGNC_5870-MONDO_0013287-HP_0000007-GENCC_100003"	"HGNC:5870"	"IGLL1"	"MONDO:0013287"	"agammaglobulinemia 2, autosomal recessive"	"MONDO:0013287"	"agammaglobulinemia 2, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5870"	"IGLL1"	"MONDO:0013287"	"agammaglobulinemia 2, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-12-21 13:32:20"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b483cc35-0599-4313-b71a-835cb1096ca5-2021-12-21T133220.444Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b483cc35-0599-4313-b71a-835cb1096ca5"	"2024-04-21"
"GENCC_000102-HGNC_5960-MONDO_0014267-HP_0000007-GENCC_100001"	"HGNC:5960"	"IKBKB"	"MONDO:0014267"	"severe combined immunodeficiency due to IKK2 deficiency"	"MONDO:0014267"	"severe combined immunodeficiency due to IKK2 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5960"	"IKBKB"	"MONDO:0014267"	"severe combined immunodeficiency due to IKK2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93641cdc-81a2-478d-be13-43078592c09f-2023-05-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93641cdc-81a2-478d-be13-43078592c09f"	"2024-04-21"
"GENCC_000102-HGNC_5961-MONDO_0010631-HP_0001417-GENCC_100001"	"HGNC:5961"	"IKBKG"	"MONDO:0010631"	"incontinentia pigmenti"	"MONDO:0010631"	"incontinentia pigmenti"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:5961"	"IKBKG"	"MONDO:0010631"	"incontinentia pigmenti"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_092ed3e1-8a02-4c71-8134-24c4dc8d3a69-2022-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"092ed3e1-8a02-4c71-8134-24c4dc8d3a69"	"2024-04-21"
"GENCC_000102-HGNC_5961-MONDO_0100162-HP_0001417-GENCC_100001"	"HGNC:5961"	"IKBKG"	"MONDO:0100162"	"IKBKG-related immunodeficiency with or without ectodermal dysplasia"	"MONDO:0100162"	"IKBKG-related immunodeficiency with or without ectodermal dysplasia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:5961"	"IKBKG"	"MONDO:0100162"	"IKBKG-related immunodeficiency with or without ectodermal dysplasia"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c9ee97a-ab3d-4747-b3fe-523578dd90e9-2022-09-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2c9ee97a-ab3d-4747-b3fe-523578dd90e9"	"2024-04-21"
"GENCC_000102-HGNC_13176-MONDO_0007179-HP_0000006-GENCC_100003"	"HGNC:13176"	"IKZF1"	"MONDO:0007179"	"autoimmune disease"	"MONDO:0007179"	"autoimmune disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13176"	"IKZF1"	"MONDO:0007179"	"autoimmune disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-08-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a839a0c3-f5c6-4286-9d04-cd9347fefb00-2022-08-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a839a0c3-f5c6-4286-9d04-cd9347fefb00"	"2024-04-21"
"GENCC_000102-HGNC_13176-MONDO_0014810-HP_0000006-GENCC_100001"	"HGNC:13176"	"IKZF1"	"MONDO:0014810"	"pancytopenia due to IKZF1 mutations"	"MONDO:0014810"	"pancytopenia due to IKZF1 mutations"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13176"	"IKZF1"	"MONDO:0014810"	"pancytopenia due to IKZF1 mutations"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be4b4555-477b-477b-bff9-7fcc8883806a-2022-09-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"be4b4555-477b-477b-bff9-7fcc8883806a"	"2024-04-21"
"GENCC_000102-HGNC_13177-MONDO_0800139-HP_0032113-GENCC_100003"	"HGNC:13177"	"IKZF2"	"MONDO:0800139"	"HELIOS deficiency"	"MONDO:0800139"	"HELIOS deficiency"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:13177"	"IKZF2"	"MONDO:0800139"	"HELIOS deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-03-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c007dec-2ef6-49a6-ba07-5f495c7794ae-2023-03-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3c007dec-2ef6-49a6-ba07-5f495c7794ae"	"2024-04-21"
"GENCC_000102-HGNC_13178-MONDO_0030333-HP_0000006-GENCC_100003"	"HGNC:13178"	"IKZF3"	"MONDO:0030333"	"immunodeficiency 84"	"MONDO:0030333"	"immunodeficiency 84"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13178"	"IKZF3"	"MONDO:0030333"	"immunodeficiency 84"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-03-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9112f2c-325e-4363-8a37-e7a8862bf55b-2023-03-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e9112f2c-325e-4363-8a37-e7a8862bf55b"	"2024-04-21"
"GENCC_000102-HGNC_14283-MONDO_0030867-HP_0000006-GENCC_100003"	"HGNC:14283"	"IKZF5"	"MONDO:0030867"	"thrombocytopenia 7"	"MONDO:0030867"	"thrombocytopenia 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14283"	"IKZF5"	"MONDO:0030867"	"thrombocytopenia 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-05-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3d7d24b-1fb8-4951-9508-b27035a000a0-2021-05-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b3d7d24b-1fb8-4951-9508-b27035a000a0"	"2024-04-21"
"GENCC_000102-HGNC_5967-MONDO_0013615-HP_0000007-GENCC_100001"	"HGNC:5967"	"IL11RA"	"MONDO:0013615"	"craniosynostosis and dental anomalies"	"MONDO:0013615"	"craniosynostosis and dental anomalies"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5967"	"IL11RA"	"MONDO:0013615"	"craniosynostosis and dental anomalies"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-20 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_903705e8-451e-4ed9-b3fc-d50df68c3fa2-2023-04-20T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"903705e8-451e-4ed9-b3fc-d50df68c3fa2"	"2024-04-21"
"GENCC_000102-HGNC_5996-MONDO_0019181-HP_0001417-GENCC_100001"	"HGNC:5996"	"IL1RAPL1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:5996"	"IL1RAPL1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-15 13:50:28"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b5db6b4-94fa-46d1-88a7-bbf382f3a1c6-2021-03-15T135028.460Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3b5db6b4-94fa-46d1-88a7-bbf382f3a1c6"	"2024-04-21"
"GENCC_000102-HGNC_6005-MONDO_0015517-HP_0000007-GENCC_100004"	"HGNC:6005"	"IL21"	"MONDO:0015517"	"common variable immunodeficiency"	"MONDO:0015517"	"common variable immunodeficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6005"	"IL21"	"MONDO:0015517"	"common variable immunodeficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-30 12:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82664dca-783a-4ed9-abe5-c77b082a0684-2022-12-30T120000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82664dca-783a-4ed9-abe5-c77b082a0684"	"2024-04-21"
"GENCC_000102-HGNC_6006-MONDO_0021094-HP_0000007-GENCC_100001"	"HGNC:6006"	"IL21R"	"MONDO:0021094"	"immunodeficiency disease"	"MONDO:0021094"	"immunodeficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6006"	"IL21R"	"MONDO:0021094"	"immunodeficiency disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-31 12:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4dbeac16-997c-43c0-9fb6-eaa98d0816f9-2022-12-31T120000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4dbeac16-997c-43c0-9fb6-eaa98d0816f9"	"2024-04-21"
"GENCC_000102-HGNC_6010-MONDO_0010315-HP_0001417-GENCC_100001"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:6010"	"IL2RG"	"MONDO:0010315"	"T-B+ severe combined immunodeficiency due to gamma chain deficiency"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-22 19:11:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4a8be06-e082-47c7-b005-956b51424fd2-2021-04-22T191103.318Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e4a8be06-e082-47c7-b005-956b51424fd2"	"2024-04-21"
"GENCC_000102-HGNC_6019-MONDO_0030069-HP_0000007-GENCC_100004"	"HGNC:6019"	"IL6R"	"MONDO:0030069"	"hyper-IgE recurrent infection syndrome 5, autosomal recessive"	"MONDO:0030069"	"hyper-IgE recurrent infection syndrome 5, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6019"	"IL6R"	"MONDO:0030069"	"hyper-IgE recurrent infection syndrome 5, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-09-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3eaf66b-3d62-4789-8de9-151a56ff5632-2023-09-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d3eaf66b-3d62-4789-8de9-151a56ff5632"	"2024-04-21"
"GENCC_000102-HGNC_6024-MONDO_0012163-HP_0000007-GENCC_100001"	"HGNC:6024"	"IL7R"	"MONDO:0012163"	"immunodeficiency 104"	"MONDO:0012163"	"immunodeficiency 104"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6024"	"IL7R"	"MONDO:0012163"	"immunodeficiency 104"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-22 16:48:43"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bab0c36-592e-439c-bedf-4ec095fd47e8-2021-06-22T164843.040Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6bab0c36-592e-439c-bedf-4ec095fd47e8"	"2024-04-21"
"GENCC_000102-HGNC_28741-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:28741"	"ILDR1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28741"	"ILDR1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5e1a608-edc3-405c-805f-a7ed162c2bbc-2017-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e5e1a608-edc3-405c-805f-a7ed162c2bbc"	"2024-04-21"
"GENCC_000102-HGNC_6040-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:6040"	"ILK"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6040"	"ILK"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_540f2706-1c1a-452e-b5b9-334728b11e40-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"540f2706-1c1a-452e-b5b9-334728b11e40"	"2024-04-21"
"GENCC_000102-HGNC_6052-MONDO_0019118-HP_0000006-GENCC_100001"	"HGNC:6052"	"IMPDH1"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6052"	"IMPDH1"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04d85991-25a4-4da6-8090-65b8cfb771cd-2024-02-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"04d85991-25a4-4da6-8090-65b8cfb771cd"	"2024-04-21"
"GENCC_000102-HGNC_6055-MONDO_0019118-HP_0000006-GENCC_100001"	"HGNC:6055"	"IMPG1"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6055"	"IMPG1"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6816122-6b22-4ac8-bc20-f1cc68b3b7ed-2023-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c6816122-6b22-4ac8-bc20-f1cc68b3b7ed"	"2024-04-21"
"GENCC_000102-HGNC_6055-MONDO_0014508-HP_0000007-GENCC_100001"	"HGNC:6055"	"IMPG1"	"MONDO:0014508"	"vitelliform macular dystrophy 4"	"MONDO:0014508"	"vitelliform macular dystrophy 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6055"	"IMPG1"	"MONDO:0014508"	"vitelliform macular dystrophy 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d638e88c-feaa-4d84-a4e7-9b83481bfb0c-2023-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d638e88c-feaa-4d84-a4e7-9b83481bfb0c"	"2024-04-21"
"GENCC_000102-HGNC_18362-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:18362"	"IMPG2"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18362"	"IMPG2"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66bf5526-6f74-473b-b2f9-3e3270164bc8-2023-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"66bf5526-6f74-473b-b2f9-3e3270164bc8"	"2024-04-21"
"GENCC_000102-HGNC_23791-MONDO_0013758-HP_0000006-GENCC_100001"	"HGNC:23791"	"INF2"	"MONDO:0013758"	"Charcot-Marie-Tooth disease dominant intermediate E"	"MONDO:0013758"	"Charcot-Marie-Tooth disease dominant intermediate E"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23791"	"INF2"	"MONDO:0013758"	"Charcot-Marie-Tooth disease dominant intermediate E"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-22 20:20:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5215f2cf-99c9-405a-b221-18f412abd1f0-2021-03-22T202012.410Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5215f2cf-99c9-405a-b221-18f412abd1f0"	"2024-04-21"
"GENCC_000102-HGNC_26956-MONDO_0011864-HP_0000007-GENCC_100005"	"HGNC:26956"	"INO80"	"MONDO:0011864"	"immunodeficiency, common variable, 1"	"MONDO:0011864"	"immunodeficiency, common variable, 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26956"	"INO80"	"MONDO:0011864"	"immunodeficiency, common variable, 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-22 01:48:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16d9f828-f6fa-4e35-bc23-c9f1b1138b9a-2021-01-22T014826.188Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"16d9f828-f6fa-4e35-bc23-c9f1b1138b9a"	"2024-04-21"
"GENCC_000102-HGNC_21474-MONDO_0012423-HP_0000007-GENCC_100003"	"HGNC:21474"	"INPP5E"	"MONDO:0012423"	"MORM syndrome"	"MONDO:0012423"	"MORM syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21474"	"INPP5E"	"MONDO:0012423"	"MORM syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a50bbd87-4308-4272-83fc-21274d283e63-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a50bbd87-4308-4272-83fc-21274d283e63"	"2024-04-21"
"GENCC_000102-HGNC_21474-MONDO_0008944-HP_0000007-GENCC_100001"	"HGNC:21474"	"INPP5E"	"MONDO:0008944"	"Joubert syndrome 1"	"MONDO:0008944"	"Joubert syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21474"	"INPP5E"	"MONDO:0008944"	"Joubert syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5fb970a-8747-4c3e-8465-d8cb007c1428-2021-09-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a5fb970a-8747-4c3e-8465-d8cb007c1428"	"2024-04-21"
"GENCC_000102-HGNC_6081-MONDO_0015967-HP_0000007-GENCC_100001"	"HGNC:6081"	"INS"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6081"	"INS"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c21ba4d-785f-486f-84f8-511b9c89c137-2020-05-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9c21ba4d-785f-486f-84f8-511b9c89c137"	"2024-04-21"
"GENCC_000102-HGNC_6081-MONDO_0015967-HP_0000006-GENCC_100001"	"HGNC:6081"	"INS"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6081"	"INS"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5224322-637e-40a8-89eb-d44e01536f25-2020-05-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c5224322-637e-40a8-89eb-d44e01536f25"	"2024-04-21"
"GENCC_000102-HGNC_17870-MONDO_0011190-HP_0000007-GENCC_100001"	"HGNC:17870"	"INVS"	"MONDO:0011190"	"nephronophthisis 2"	"MONDO:0011190"	"nephronophthisis 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17870"	"INVS"	"MONDO:0011190"	"nephronophthisis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-24 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bdaee2a-144d-4bdf-a5c7-78001b991174-2021-02-24T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6bdaee2a-144d-4bdf-a5c7-78001b991174"	"2024-04-21"
"GENCC_000102-HGNC_29059-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:29059"	"IQSEC2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:29059"	"IQSEC2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0916cda1-5213-4f88-9835-34c3931526a2-2019-06-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0916cda1-5213-4f88-9835-34c3931526a2"	"2024-04-21"
"GENCC_000102-HGNC_21729-MONDO_0054691-HP_0000006-GENCC_100004"	"HGNC:21729"	"IRF2BP2"	"MONDO:0054691"	"immunodeficiency, common variable, 14"	"MONDO:0054691"	"immunodeficiency, common variable, 14"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21729"	"IRF2BP2"	"MONDO:0054691"	"immunodeficiency, common variable, 14"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-03-16 12:54:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_025487e5-9447-4c7b-88ad-f650103e09cf-2021-03-16T125403.252Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"025487e5-9447-4c7b-88ad-f650103e09cf"	"2024-04-21"
"GENCC_000102-HGNC_14282-MONDO_0005559-HP_0000006-GENCC_100001"	"HGNC:14282"	"IRF2BPL"	"MONDO:0005559"	"neurodegenerative disease"	"MONDO:0005559"	"neurodegenerative disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14282"	"IRF2BPL"	"MONDO:0005559"	"neurodegenerative disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-05 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88aff22f-6b5c-4f85-987a-972263639795-2023-09-05T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"88aff22f-6b5c-4f85-987a-972263639795"	"2024-04-21"
"GENCC_000102-HGNC_6129-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:6129"	"IRX4"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6129"	"IRX4"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-12-11 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b47ed2a6-3cc3-4ec4-9d92-36b8db66cc10-2023-12-11T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b47ed2a6-3cc3-4ec4-9d92-36b8db66cc10"	"2024-04-21"
"GENCC_000102-HGNC_19857-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:19857"	"ISCA2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19857"	"ISCA2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac2a091c-b7da-4268-b2f4-0fbf9231a5fb-2023-08-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac2a091c-b7da-4268-b2f4-0fbf9231a5fb"	"2024-04-21"
"GENCC_000102-HGNC_29882-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:29882"	"ISCU"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29882"	"ISCU"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-19 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_636c0bfd-1dfd-4eb8-af33-3cbb652a2634-2023-10-19T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"636c0bfd-1dfd-4eb8-af33-3cbb652a2634"	"2024-04-21"
"GENCC_000102-HGNC_6138-MONDO_0008552-HP_0000006-GENCC_100001"	"HGNC:6138"	"ITGA2B"	"MONDO:0008552"	"platelet-type bleeding disorder 16"	"MONDO:0008552"	"platelet-type bleeding disorder 16"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6138"	"ITGA2B"	"MONDO:0008552"	"platelet-type bleeding disorder 16"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_380c4fb9-aa51-4d34-9349-7938667612b7-2023-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"380c4fb9-aa51-4d34-9349-7938667612b7"	"2024-04-21"
"GENCC_000102-HGNC_6138-MONDO_0100326-HP_0000007-GENCC_100001"	"HGNC:6138"	"ITGA2B"	"MONDO:0100326"	"Glanzmann thrombasthenia"	"MONDO:0100326"	"Glanzmann thrombasthenia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6138"	"ITGA2B"	"MONDO:0100326"	"Glanzmann thrombasthenia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-04 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9fa894f5-f9e4-4b6d-bdde-eeb7ad9507e2-2019-09-04T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9fa894f5-f9e4-4b6d-bdde-eeb7ad9507e2"	"2024-04-21"
"GENCC_000102-HGNC_6139-MONDO_0013881-HP_0000007-GENCC_100001"	"HGNC:6139"	"ITGA3"	"MONDO:0013881"	"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"MONDO:0013881"	"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6139"	"ITGA3"	"MONDO:0013881"	"pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-09 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dc277da-52f8-4f64-91a8-cd6c4f68db3a-2022-05-09T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3dc277da-52f8-4f64-91a8-cd6c4f68db3a"	"2024-04-21"
"GENCC_000102-HGNC_6156-MONDO_0100326-HP_0000007-GENCC_100001"	"HGNC:6156"	"ITGB3"	"MONDO:0100326"	"Glanzmann thrombasthenia"	"MONDO:0100326"	"Glanzmann thrombasthenia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6156"	"ITGB3"	"MONDO:0100326"	"Glanzmann thrombasthenia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-08-28 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e16b727e-c4c6-4d1d-8e66-8acab2b605fa-2019-08-28T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e16b727e-c4c6-4d1d-8e66-8acab2b605fa"	"2024-04-21"
"GENCC_000102-HGNC_6156-MONDO_0008552-HP_0000006-GENCC_100003"	"HGNC:6156"	"ITGB3"	"MONDO:0008552"	"platelet-type bleeding disorder 16"	"MONDO:0008552"	"platelet-type bleeding disorder 16"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6156"	"ITGB3"	"MONDO:0008552"	"platelet-type bleeding disorder 16"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eda416fa-6e15-40df-bfd0-46a111e99ba0-2023-04-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eda416fa-6e15-40df-bfd0-46a111e99ba0"	"2024-04-21"
"GENCC_000102-HGNC_6171-MONDO_0013081-HP_0000007-GENCC_100001"	"HGNC:6171"	"ITK"	"MONDO:0013081"	"lymphoproliferative syndrome 1"	"MONDO:0013081"	"lymphoproliferative syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6171"	"ITK"	"MONDO:0013081"	"lymphoproliferative syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-21 19:31:48"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63552229-5e8c-4a94-b428-ec9a56a0aa5f-2019-11-21T193148.945Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"63552229-5e8c-4a94-b428-ec9a56a0aa5f"	"2024-04-21"
"GENCC_000102-HGNC_6176-MONDO_0100062-HP_0000007-GENCC_100001"	"HGNC:6176"	"ITPA"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6176"	"ITPA"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-06 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afbea76e-09de-48c6-b7b3-0c89109f4253-2024-02-06T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afbea76e-09de-48c6-b7b3-0c89109f4253"	"2024-04-21"
"GENCC_000102-HGNC_6179-MONDO_0800140-HP_0000007-GENCC_100004"	"HGNC:6179"	"ITPKB"	"MONDO:0800140"	"ITPKB deficiency"	"MONDO:0800140"	"ITPKB deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6179"	"ITPKB"	"MONDO:0800140"	"ITPKB deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-16 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93d0dcb3-b6f6-4af4-951b-3307f4e36b67-2023-11-16T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93d0dcb3-b6f6-4af4-951b-3307f4e36b67"	"2024-04-21"
"GENCC_000102-HGNC_6180-MONDO_0007298-HP_0000006-GENCC_100001"	"HGNC:6180"	"ITPR1"	"MONDO:0007298"	"spinocerebellar ataxia type 29"	"MONDO:0007298"	"spinocerebellar ataxia type 29"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6180"	"ITPR1"	"MONDO:0007298"	"spinocerebellar ataxia type 29"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b938bea-6fcb-46e1-9435-99303d59740e-2021-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8b938bea-6fcb-46e1-9435-99303d59740e"	"2024-04-21"
"GENCC_000102-HGNC_6180-MONDO_0008795-HP_0000006-GENCC_100001"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6180"	"ITPR1"	"MONDO:0008795"	"aniridia-cerebellar ataxia-intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a848b265-8aa3-41ee-83cc-9287afe0f9d0-2021-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a848b265-8aa3-41ee-83cc-9287afe0f9d0"	"2024-04-21"
"GENCC_000102-HGNC_6186-MONDO_0009475-HP_0000007-GENCC_100001"	"HGNC:6186"	"IVD"	"MONDO:0009475"	"isovaleric acidemia"	"MONDO:0009475"	"isovaleric acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6186"	"IVD"	"MONDO:0009475"	"isovaleric acidemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05f5d468-2f46-44f3-ba67-c4e708d2954f-2019-05-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"05f5d468-2f46-44f3-ba67-c4e708d2954f"	"2024-04-21"
"GENCC_000102-HGNC_6193-MONDO_0010938-HP_0000007-GENCC_100001"	"HGNC:6193"	"JAK3"	"MONDO:0010938"	"T-B+ severe combined immunodeficiency due to JAK3 deficiency"	"MONDO:0010938"	"T-B+ severe combined immunodeficiency due to JAK3 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6193"	"JAK3"	"MONDO:0010938"	"T-B+ severe combined immunodeficiency due to JAK3 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-18 20:05:20"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_669dcacf-8423-4507-a36c-feab049737b3-2020-12-18T200520.841Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"669dcacf-8423-4507-a36c-feab049737b3"	"2024-04-21"
"GENCC_000102-HGNC_14202-MONDO_0005021-HP_0032113-GENCC_100003"	"HGNC:14202"	"JPH2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:14202"	"JPH2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_242181ea-8909-4b38-a6bd-9a6552935c74-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"242181ea-8909-4b38-a6bd-9a6552935c74"	"2024-04-21"
"GENCC_000102-HGNC_14202-MONDO_0005045-HP_0000006-GENCC_100003"	"HGNC:14202"	"JPH2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14202"	"JPH2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-10-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_378a727d-0c5b-4563-9c96-ac18a2902742-2022-10-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"378a727d-0c5b-4563-9c96-ac18a2902742"	"2024-04-21"
"GENCC_000102-HGNC_24565-MONDO_0012496-HP_0000006-GENCC_100001"	"HGNC:24565"	"KANSL1"	"MONDO:0012496"	"Koolen-de Vries syndrome"	"MONDO:0012496"	"Koolen-de Vries syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24565"	"KANSL1"	"MONDO:0012496"	"Koolen-de Vries syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-18 12:09:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e89a0e87-314a-49b1-bb50-6b26aeaa1037-2022-02-18T120936.714Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e89a0e87-314a-49b1-bb50-6b26aeaa1037"	"2024-04-21"
"GENCC_000102-HGNC_6215-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:6215"	"KARS1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6215"	"KARS1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5239ac3-1506-4b0e-9055-632ba895ca0c-2018-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f5239ac3-1506-4b0e-9055-632ba895ca0c"	"2024-04-21"
"GENCC_000102-HGNC_13013-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:13013"	"KAT6A"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13013"	"KAT6A"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86ec74ba-6b12-42ea-bc06-58af4fd6b7a4-2021-10-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"86ec74ba-6b12-42ea-bc06-58af4fd6b7a4"	"2024-04-21"
"GENCC_000102-HGNC_17582-MONDO_0036042-HP_0000006-GENCC_100001"	"HGNC:17582"	"KAT6B"	"MONDO:0036042"	"KAT6B-related multiple congenital anomalies syndrome"	"MONDO:0036042"	"KAT6B-related multiple congenital anomalies syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17582"	"KAT6B"	"MONDO:0036042"	"KAT6B-related multiple congenital anomalies syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-04 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cea46b8-c173-46f6-bd81-46b5411d0a0e-2023-01-04T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8cea46b8-c173-46f6-bd81-46b5411d0a0e"	"2024-04-21"
"GENCC_000102-HGNC_17582-MONDO_0021060-HP_0000006-GENCC_100005"	"HGNC:17582"	"KAT6B"	"MONDO:0021060"	"RASopathy"	"MONDO:0021060"	"RASopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17582"	"KAT6B"	"MONDO:0021060"	"RASopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2019-02-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb3c40d8-3aea-45bf-949e-c3ba7d96a6b4-2019-02-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fb3c40d8-3aea-45bf-949e-c3ba7d96a6b4"	"2024-04-21"
"GENCC_000102-HGNC_25387-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:25387"	"KATNAL2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:25387"	"KATNAL2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-05-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eddbdd3e-2f6b-4b55-a951-988ee214b08b-2020-05-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eddbdd3e-2f6b-4b55-a951-988ee214b08b"	"2024-04-21"
"GENCC_000102-HGNC_29068-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:29068"	"KATNIP"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29068"	"KATNIP"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ec67a40-fd4c-4eb8-b90d-e0b3fc4f0133-2023-07-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0ec67a40-fd4c-4eb8-b90d-e0b3fc4f0133"	"2024-04-21"
"GENCC_000102-HGNC_37227-MONDO_0012237-HP_0000006-GENCC_100003"	"HGNC:37227"	"KBTBD13"	"MONDO:0012237"	"nemaline myopathy 6"	"MONDO:0012237"	"nemaline myopathy 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:37227"	"KBTBD13"	"MONDO:0012237"	"nemaline myopathy 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-06-22 14:20:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff2f157e-741b-447d-a6c5-1d003e2e98e1-2020-06-22T142022.592Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff2f157e-741b-447d-a6c5-1d003e2e98e1"	"2024-04-21"
"GENCC_000102-HGNC_6218-MONDO_0008047-HP_0000006-GENCC_100001"	"HGNC:6218"	"KCNA1"	"MONDO:0008047"	"episodic ataxia type 1"	"MONDO:0008047"	"episodic ataxia type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6218"	"KCNA1"	"MONDO:0008047"	"episodic ataxia type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-07 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be2294a9-78d0-48f5-9b55-d6abb3d0a55f-2023-03-07T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"be2294a9-78d0-48f5-9b55-d6abb3d0a55f"	"2024-04-21"
"GENCC_000102-HGNC_6220-MONDO_0018614-HP_0000006-GENCC_100002"	"HGNC:6220"	"KCNA2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6220"	"KCNA2"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2017-10-20 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10049"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10049"	"2024-04-21"
"GENCC_000102-HGNC_6220-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:6220"	"KCNA2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6220"	"KCNA2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-18 13:01:46"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a825f85-585a-4086-8118-ce912d4c1469-2022-05-18T130146.911Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1a825f85-585a-4086-8118-ce912d4c1469"	"2024-04-21"
"GENCC_000102-HGNC_6231-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:6231"	"KCNB1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6231"	"KCNB1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_986348ad-e8bb-4391-9478-7834a19415cb-2019-04-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"986348ad-e8bb-4391-9478-7834a19415cb"	"2024-04-21"
"GENCC_000102-HGNC_6233-MONDO_0020074-HP_0000006-GENCC_100001"	"HGNC:6233"	"KCNC1"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6233"	"KCNC1"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-07 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35d2beba-40f6-472d-842c-41925f486ba9-2022-11-07T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"35d2beba-40f6-472d-842c-41925f486ba9"	"2024-04-21"
"GENCC_000102-HGNC_6233-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:6233"	"KCNC1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6233"	"KCNC1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-07 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5146494e-71e7-4e06-b10f-cc126429e3fb-2022-11-07T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5146494e-71e7-4e06-b10f-cc126429e3fb"	"2024-04-21"
"GENCC_000102-HGNC_6234-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:6234"	"KCNC2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6234"	"KCNC2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-14 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_560c09c7-b58c-4d81-a5e1-d4a76ade613f-2023-12-14T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"560c09c7-b58c-4d81-a5e1-d4a76ade613f"	"2024-04-21"
"GENCC_000102-HGNC_6239-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:6239"	"KCND3"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6239"	"KCND3"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10151"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10151"	"2024-04-21"
"GENCC_000102-HGNC_6240-MONDO_0013372-HP_0000006-GENCC_100004"	"HGNC:6240"	"KCNE1"	"MONDO:0013372"	"long QT syndrome 5"	"MONDO:0013372"	"long QT syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6240"	"KCNE1"	"MONDO:0013372"	"long QT syndrome 5"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-12-15 00:21:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_957550ae-d91c-49e7-be7c-ff5a13faa3ff-2020-12-15T002142.973Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"957550ae-d91c-49e7-be7c-ff5a13faa3ff"	"2024-04-21"
"GENCC_000102-HGNC_6242-MONDO_0002442-HP_0000006-GENCC_100005"	"HGNC:6242"	"KCNE2"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6242"	"KCNE2"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-12-15 00:23:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9912be79-b172-46ca-a67c-99698de5590b-2020-12-15T002341.412Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9912be79-b172-46ca-a67c-99698de5590b"	"2024-04-21"
"GENCC_000102-HGNC_6243-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:6243"	"KCNE3"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6243"	"KCNE3"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10152"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10152"	"2024-04-21"
"GENCC_000102-HGNC_6241-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:6241"	"KCNE5"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6241"	"KCNE5"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10153"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10153"	"2024-04-21"
"GENCC_000102-HGNC_6250-MONDO_0100485-HP_0000006-GENCC_100001"	"HGNC:6250"	"KCNH1"	"MONDO:0100485"	"KCNH1 associated disorder"	"MONDO:0100485"	"KCNH1 associated disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6250"	"KCNH1"	"MONDO:0100485"	"KCNH1 associated disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b090a30-6065-4337-b930-d40585b142cd-2022-04-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b090a30-6065-4337-b930-d40585b142cd"	"2024-04-21"
"GENCC_000102-HGNC_6251-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:6251"	"KCNH2"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6251"	"KCNH2"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10154"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10154"	"2024-04-21"
"GENCC_000102-HGNC_6251-MONDO_0002442-HP_0000006-GENCC_100001"	"HGNC:6251"	"KCNH2"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6251"	"KCNH2"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-25 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_462eeb4e-357d-4c3d-89f0-e386ac0d011b-2018-09-25T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"462eeb4e-357d-4c3d-89f0-e386ac0d011b"	"2024-04-21"
"GENCC_000102-HGNC_6251-MONDO_0000453-HP_0000006-GENCC_100001"	"HGNC:6251"	"KCNH2"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6251"	"KCNH2"	"MONDO:0000453"	"short QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b033c3f-04de-4806-a9f3-0b318082b32e-2020-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6b033c3f-04de-4806-a9f3-0b318082b32e"	"2024-04-21"
"GENCC_000102-HGNC_6254-MONDO_0100207-HP_0000006-GENCC_100001"	"HGNC:6254"	"KCNH5"	"MONDO:0100207"	"infantile-onset epilepsy"	"MONDO:0100207"	"infantile-onset epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6254"	"KCNH5"	"MONDO:0100207"	"infantile-onset epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-15 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1794f26-8bc9-4e76-bc1e-4dfb6aab53ff-2022-11-15T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c1794f26-8bc9-4e76-bc1e-4dfb6aab53ff"	"2024-04-21"
"GENCC_000102-HGNC_6256-MONDO_0023069-HP_0000006-GENCC_100005"	"HGNC:6256"	"KCNJ10"	"MONDO:0023069"	"enlarged vestibular aqueduct syndrome"	"MONDO:0023069"	"enlarged vestibular aqueduct syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6256"	"KCNJ10"	"MONDO:0023069"	"enlarged vestibular aqueduct syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-02-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09f81c95-1213-4029-a6bd-279e52f240c7-2018-02-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"09f81c95-1213-4029-a6bd-279e52f240c7"	"2024-04-21"
"GENCC_000102-HGNC_6256-MONDO_0013005-HP_0000007-GENCC_100001"	"HGNC:6256"	"KCNJ10"	"MONDO:0013005"	"EAST syndrome"	"MONDO:0013005"	"EAST syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6256"	"KCNJ10"	"MONDO:0013005"	"EAST syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29ea43d4-6c86-4110-a34e-291fe56ec2c4-2023-06-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29ea43d4-6c86-4110-a34e-291fe56ec2c4"	"2024-04-21"
"GENCC_000102-HGNC_6257-MONDO_0015967-HP_0000006-GENCC_100001"	"HGNC:6257"	"KCNJ11"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6257"	"KCNJ11"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9353379e-564a-43bc-a859-7d27ab640e9e-2023-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9353379e-564a-43bc-a859-7d27ab640e9e"	"2024-04-21"
"GENCC_000102-HGNC_6262-MONDO_0009423-HP_0000007-GENCC_100002"	"HGNC:6262"	"KCNJ16"	"MONDO:0009423"	"hypokalemic alkalosis, familial, with specific renal tubulopathy"	"MONDO:0009423"	"hypokalemic alkalosis, familial, with specific renal tubulopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6262"	"KCNJ16"	"MONDO:0009423"	"hypokalemic alkalosis, familial, with specific renal tubulopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-06-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7b17b53-89bc-4f43-ab6f-c1808a4e4cbc-2023-06-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b7b17b53-89bc-4f43-ab6f-c1808a4e4cbc"	"2024-04-21"
"GENCC_000102-HGNC_6263-MONDO_0002442-HP_0000006-GENCC_100004"	"HGNC:6263"	"KCNJ2"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6263"	"KCNJ2"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-12-15 00:25:35"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dc2acbc-8dbe-4142-8f71-89f1576dde08-2020-12-15T002535.799Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5dc2acbc-8dbe-4142-8f71-89f1576dde08"	"2024-04-21"
"GENCC_000102-HGNC_6263-MONDO_0000453-HP_0000006-GENCC_100003"	"HGNC:6263"	"KCNJ2"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6263"	"KCNJ2"	"MONDO:0000453"	"short QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9111653a-7d9c-4d0e-94d9-daaa208a0b05-2020-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9111653a-7d9c-4d0e-94d9-daaa208a0b05"	"2024-04-21"
"GENCC_000102-HGNC_6263-MONDO_0017990-HP_0000006-GENCC_100005"	"HGNC:6263"	"KCNJ2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6263"	"KCNJ2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5f2490f-215e-427e-be7b-6a68e3f89e32-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b5f2490f-215e-427e-be7b-6a68e3f89e32"	"2024-04-21"
"GENCC_000102-HGNC_6266-MONDO_0002442-HP_0000006-GENCC_100005"	"HGNC:6266"	"KCNJ5"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6266"	"KCNJ5"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-12-15 00:26:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6fa6a520-ae6b-4638-a092-a61831d481bf-2020-12-15T002641.568Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6fa6a520-ae6b-4638-a092-a61831d481bf"	"2024-04-21"
"GENCC_000102-HGNC_6269-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:6269"	"KCNJ8"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6269"	"KCNJ8"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10155"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10155"	"2024-04-21"
"GENCC_000102-HGNC_6278-MONDO_0015924-HP_0000006-GENCC_100001"	"HGNC:6278"	"KCNK3"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6278"	"KCNK3"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-08 15:27:19"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e20d0ee0-4a14-4569-a451-729348ce8d23-2021-05-08T152719.928Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e20d0ee0-4a14-4569-a451-729348ce8d23"	"2024-04-21"
"GENCC_000102-HGNC_6284-MONDO_0012276-HP_0000006-GENCC_100001"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-08 10:44:05"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4bd10bb7-67d0-4c30-a944-9a46fd2f361a-2022-03-08T104405.484Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4bd10bb7-67d0-4c30-a944-9a46fd2f361a"	"2024-04-21"
"GENCC_000102-HGNC_6284-MONDO_0012276-HP_0000007-GENCC_100003"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6284"	"KCNMA1"	"MONDO:0012276"	"generalized epilepsy-paroxysmal dyskinesia syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-08 11:49:15"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9aabc05e-8452-4b72-bd07-ae1a1fc40dfc-2022-03-08T114915.435Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9aabc05e-8452-4b72-bd07-ae1a1fc40dfc"	"2024-04-21"
"GENCC_000102-HGNC_6294-MONDO_0002441-HP_0000007-GENCC_100001"	"HGNC:6294"	"KCNQ1"	"MONDO:0002441"	"Jervell and Lange-Nielsen syndrome"	"MONDO:0002441"	"Jervell and Lange-Nielsen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6294"	"KCNQ1"	"MONDO:0002441"	"Jervell and Lange-Nielsen syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-19 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cb5cd32-6663-48bc-b8b0-3b9ca34e2cb7-2017-12-19T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2cb5cd32-6663-48bc-b8b0-3b9ca34e2cb7"	"2024-04-21"
"GENCC_000102-HGNC_6294-MONDO_0000453-HP_0000006-GENCC_100002"	"HGNC:6294"	"KCNQ1"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6294"	"KCNQ1"	"MONDO:0000453"	"short QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2020-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5000dde0-156c-45b0-87db-35a935c69cb7-2020-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5000dde0-156c-45b0-87db-35a935c69cb7"	"2024-04-21"
"GENCC_000102-HGNC_6294-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:6294"	"KCNQ1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6294"	"KCNQ1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-05-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b44eee3-56ea-4596-8d3e-e4d5c0ad8d60-2022-05-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5b44eee3-56ea-4596-8d3e-e4d5c0ad8d60"	"2024-04-21"
"GENCC_000102-HGNC_6294-MONDO_0002442-HP_0000006-GENCC_100001"	"HGNC:6294"	"KCNQ1"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6294"	"KCNQ1"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-25 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dff8874e-98a1-472b-9cc2-3f441b1c1064-2018-09-25T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dff8874e-98a1-472b-9cc2-3f441b1c1064"	"2024-04-21"
"GENCC_000102-HGNC_6296-MONDO_0100455-HP_0000006-GENCC_100001"	"HGNC:6296"	"KCNQ2"	"MONDO:0100455"	"neonatal-onset developmental and epileptic encephalopathy"	"MONDO:0100455"	"neonatal-onset developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6296"	"KCNQ2"	"MONDO:0100455"	"neonatal-onset developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-21 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a631c0a5-8751-42df-878f-4b4ee9d1ec5c-2022-06-21T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a631c0a5-8751-42df-878f-4b4ee9d1ec5c"	"2024-04-21"
"GENCC_000102-HGNC_6296-MONDO_0100456-HP_0000006-GENCC_100001"	"HGNC:6296"	"KCNQ2"	"MONDO:0100456"	"neonatal encephalopathy with non-epileptic myoclonus"	"MONDO:0100456"	"neonatal encephalopathy with non-epileptic myoclonus"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6296"	"KCNQ2"	"MONDO:0100456"	"neonatal encephalopathy with non-epileptic myoclonus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-15 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a790a385-d2bb-49dd-9566-d5ff258ee5d8-2022-02-15T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a790a385-d2bb-49dd-9566-d5ff258ee5d8"	"2024-04-21"
"GENCC_000102-HGNC_6296-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:6296"	"KCNQ2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6296"	"KCNQ2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-15 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e18266b2-576c-4e38-8007-9fe4faaf4f0e-2021-11-15T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e18266b2-576c-4e38-8007-9fe4faaf4f0e"	"2024-04-21"
"GENCC_000102-HGNC_6298-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:6298"	"KCNQ4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6298"	"KCNQ4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88196c6d-4bd7-4aff-ba98-c7b4411c562d-2017-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"88196c6d-4bd7-4aff-ba98-c7b4411c562d"	"2024-04-21"
"GENCC_000102-HGNC_18865-MONDO_0020072-HP_0000006-GENCC_100001"	"HGNC:18865"	"KCNT1"	"MONDO:0020072"	"childhood-onset epilepsy syndrome"	"MONDO:0020072"	"childhood-onset epilepsy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18865"	"KCNT1"	"MONDO:0020072"	"childhood-onset epilepsy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1fe70b9-1f8b-4fbf-b79f-9f05dfbcf01c-2022-08-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1fe70b9-1f8b-4fbf-b79f-9f05dfbcf01c"	"2024-04-21"
"GENCC_000102-HGNC_19698-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:19698"	"KCNV2"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19698"	"KCNV2"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b260eab0-c2ff-405c-b720-c223ed6307e9-2023-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b260eab0-c2ff-405c-b720-c223ed6307e9"	"2024-04-21"
"GENCC_000102-HGNC_21957-MONDO_0020074-HP_0000007-GENCC_100001"	"HGNC:21957"	"KCTD7"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21957"	"KCTD7"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6068b08-413e-4105-b8dc-97426d64c6c4-2022-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e6068b08-413e-4105-b8dc-97426d64c6c4"	"2024-04-21"
"GENCC_000102-HGNC_9886-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:9886"	"KDM5A"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9886"	"KDM5A"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-01-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3e727da-2ddf-418d-830d-b1da8850c93d-2024-01-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e3e727da-2ddf-418d-830d-b1da8850c93d"	"2024-04-21"
"GENCC_000102-HGNC_18039-MONDO_0001071-HP_0000007-GENCC_100003"	"HGNC:18039"	"KDM5B"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18039"	"KDM5B"	"MONDO:0001071"	"intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-03-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2ae3441f-82f6-4985-ba48-fd1de8ea6ce4-2022-03-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2ae3441f-82f6-4985-ba48-fd1de8ea6ce4"	"2024-04-21"
"GENCC_000102-HGNC_11114-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:11114"	"KDM5C"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11114"	"KDM5C"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36896d71-1c04-4176-8cd9-16f5b283ef9c-2018-09-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"36896d71-1c04-4176-8cd9-16f5b283ef9c"	"2024-04-21"
"GENCC_000102-HGNC_12637-MONDO_0010465-HP_0001417-GENCC_100001"	"HGNC:12637"	"KDM6A"	"MONDO:0010465"	"Kabuki syndrome 2"	"MONDO:0010465"	"Kabuki syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:12637"	"KDM6A"	"MONDO:0010465"	"Kabuki syndrome 2"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-26 20:29:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb0b5b0f-d4c9-4c46-b4cc-2e516be7908d-2021-07-26T202903.760Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fb0b5b0f-d4c9-4c46-b4cc-2e516be7908d"	"2024-04-21"
"GENCC_000102-HGNC_29012-MONDO_0000508-HP_0000007-GENCC_100004"	"HGNC:29012"	"KDM6B"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29012"	"KDM6B"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-02-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_010fe1d1-312f-45fa-93ca-887875c53607-2022-02-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"010fe1d1-312f-45fa-93ca-887875c53607"	"2024-04-21"
"GENCC_000102-HGNC_29012-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:29012"	"KDM6B"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29012"	"KDM6B"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37e4fa5a-05b7-4cee-b43a-eb58488346bd-2022-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"37e4fa5a-05b7-4cee-b43a-eb58488346bd"	"2024-04-21"
"GENCC_000102-HGNC_6307-MONDO_0015924-HP_0000006-GENCC_100001"	"HGNC:6307"	"KDR"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6307"	"KDR"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-12 16:56:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07a11f06-0904-4a38-9fd3-0aec2bece699-2021-05-12T165601.478Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"07a11f06-0904-4a38-9fd3-0aec2bece699"	"2024-04-21"
"GENCC_000102-HGNC_4021-MONDO_0033014-HP_0000007-GENCC_100001"	"HGNC:4021"	"KDSR"	"MONDO:0033014"	"erythrokeratodermia variabilis et progressiva 4"	"MONDO:0033014"	"erythrokeratodermia variabilis et progressiva 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4021"	"KDSR"	"MONDO:0033014"	"erythrokeratodermia variabilis et progressiva 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a5d1542-feb7-4aaf-9079-55da7fb99a4a-2020-07-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0a5d1542-feb7-4aaf-9079-55da7fb99a4a"	"2024-04-21"
"GENCC_000102-HGNC_6388-MONDO_0007918-HP_0000006-GENCC_100001"	"HGNC:6388"	"KIF11"	"MONDO:0007918"	"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	"MONDO:0007918"	"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6388"	"KIF11"	"MONDO:0007918"	"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aabff7c5-06ad-4602-a6f7-fef1bca0d1df-2021-07-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aabff7c5-06ad-4602-a6f7-fef1bca0d1df"	"2024-04-21"
"GENCC_000102-HGNC_888-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:888"	"KIF1A"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:888"	"KIF1A"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-24 13:42:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d586d93-7066-4db0-b623-8b7e3eafdc06-2020-09-24T134254.893Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d586d93-7066-4db0-b623-8b7e3eafdc06"	"2024-04-21"
"GENCC_000102-HGNC_16636-MONDO_0007308-HP_0000006-GENCC_100008"	"HGNC:16636"	"KIF1B"	"MONDO:0007308"	"Charcot-Marie-Tooth disease type 2A1"	"MONDO:0007308"	"Charcot-Marie-Tooth disease type 2A1"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16636"	"KIF1B"	"MONDO:0007308"	"Charcot-Marie-Tooth disease type 2A1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2020-10-05 16:19:30"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ae6ffeae-9609-47bf-89a9-4863cf6ef05c"	"2024-04-21"
"GENCC_000102-HGNC_19349-MONDO_0007614-HP_0000006-GENCC_100001"	"HGNC:19349"	"KIF21A"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19349"	"KIF21A"	"MONDO:0007614"	"congenital fibrosis of extraocular muscles"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-26 14:48:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc32bbc2-de76-42d0-8a6b-b3c3393ddd30-2021-10-26T144854.679Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cc32bbc2-de76-42d0-8a6b-b3c3393ddd30"	"2024-04-21"
"GENCC_000102-HGNC_6323-MONDO_0060670-HP_0000006-GENCC_100001"	"HGNC:6323"	"KIF5A"	"MONDO:0060670"	"amyotrophic lateral sclerosis, susceptibility to, 25"	"MONDO:0060670"	"amyotrophic lateral sclerosis, susceptibility to, 25"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6323"	"KIF5A"	"MONDO:0060670"	"amyotrophic lateral sclerosis, susceptibility to, 25"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-26 11:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e7d2674-bce3-469c-b1e4-5cf57f5780a8-2022-05-26T110000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5e7d2674-bce3-469c-b1e4-5cf57f5780a8"	"2024-04-21"
"GENCC_000102-HGNC_6323-MONDO_0024237-HP_0000006-GENCC_100001"	"HGNC:6323"	"KIF5A"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6323"	"KIF5A"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aad7dc3e-b664-4ffb-af0f-4eba346b43e7-2023-07-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aad7dc3e-b664-4ffb-af0f-4eba346b43e7"	"2024-04-21"
"GENCC_000102-HGNC_6325-MONDO_0014116-HP_0000006-GENCC_100003"	"HGNC:6325"	"KIF5C"	"MONDO:0014116"	"complex cortical dysplasia with other brain malformations 2"	"MONDO:0014116"	"complex cortical dysplasia with other brain malformations 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6325"	"KIF5C"	"MONDO:0014116"	"complex cortical dysplasia with other brain malformations 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-01-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c22eb3e1-4a72-480f-a360-20788fe1d9cd-2022-01-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c22eb3e1-4a72-480f-a360-20788fe1d9cd"	"2024-04-21"
"GENCC_000102-HGNC_23419-MONDO_0012280-HP_0000007-GENCC_100001"	"HGNC:23419"	"KIFBP"	"MONDO:0012280"	"Goldberg-Shprintzen syndrome"	"MONDO:0012280"	"Goldberg-Shprintzen syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23419"	"KIFBP"	"MONDO:0012280"	"Goldberg-Shprintzen syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-25 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02e4e47a-f888-4807-9eb6-f1061a6c124c-2023-07-25T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"02e4e47a-f888-4807-9eb6-f1061a6c124c"	"2024-04-21"
"GENCC_000102-HGNC_23204-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:23204"	"KIRREL3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23204"	"KIRREL3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-11-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55fd22eb-792f-4e84-926d-846aae0f4733-2023-11-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"55fd22eb-792f-4e84-926d-846aae0f4733"	"2024-04-21"
"GENCC_000102-HGNC_6342-MONDO_0011719-HP_0000006-GENCC_100001"	"HGNC:6342"	"KIT"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6342"	"KIT"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-14 18:46:19"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa076c63-8ffe-46ff-ba44-255a6fca07e5-2020-01-14T184619.396Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fa076c63-8ffe-46ff-ba44-255a6fca07e5"	"2024-04-21"
"GENCC_000102-HGNC_6343-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:6343"	"KITLG"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6343"	"KITLG"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-01-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2934de4-e4d7-41b7-8d12-83372e3b1b28-2018-01-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d2934de4-e4d7-41b7-8d12-83372e3b1b28"	"2024-04-21"
"GENCC_000102-HGNC_15865-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:15865"	"KIZ"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15865"	"KIZ"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0705bfe-f3fa-495f-8a5d-77561d0afe91-2023-02-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f0705bfe-f3fa-495f-8a5d-77561d0afe91"	"2024-04-21"
"GENCC_000102-HGNC_11810-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:11810"	"KLF10"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11810"	"KLF10"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_524bb91c-07d4-4f65-bdc0-fc568a5930c8-2022-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"524bb91c-07d4-4f65-bdc0-fc568a5930c8"	"2024-04-21"
"GENCC_000102-HGNC_11811-MONDO_0015967-HP_0000006-GENCC_100006"	"HGNC:11811"	"KLF11"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11811"	"KLF11"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e38a49-7c12-4514-a2a1-109e04da146f-2023-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b1e38a49-7c12-4514-a2a1-109e04da146f"	"2024-04-21"
"GENCC_000102-HGNC_13672-MONDO_0005453-HP_0000006-GENCC_100003"	"HGNC:13672"	"KLF13"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13672"	"KLF13"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-02-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0eb567cb-68fa-42bb-a80d-cc7cbfb16d6d-2024-02-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0eb567cb-68fa-42bb-a80d-cc7cbfb16d6d"	"2024-04-21"
"GENCC_000102-HGNC_6347-MONDO_0015924-HP_0000006-GENCC_100004"	"HGNC:6347"	"KLF2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6347"	"KLF2"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1544c7bb-410b-4340-ab70-0bd431426c04-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1544c7bb-410b-4340-ab70-0bd431426c04"	"2024-04-21"
"GENCC_000102-HGNC_25947-MONDO_0005045-HP_0000007-GENCC_100003"	"HGNC:25947"	"KLHL24"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25947"	"KLHL24"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1d4ce43-4c2d-41a0-b821-a11ac8eb8fca-2023-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1d4ce43-4c2d-41a0-b821-a11ac8eb8fca"	"2024-04-21"
"GENCC_000102-HGNC_30372-MONDO_0014138-HP_0000007-GENCC_100001"	"HGNC:30372"	"KLHL40"	"MONDO:0014138"	"nemaline myopathy 8"	"MONDO:0014138"	"nemaline myopathy 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30372"	"KLHL40"	"MONDO:0014138"	"nemaline myopathy 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-05 13:46:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd1008a8-dd54-43d0-962c-82453975dc3a-2019-11-05T134603.480Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dd1008a8-dd54-43d0-962c-82453975dc3a"	"2024-04-21"
"GENCC_000102-HGNC_16905-MONDO_0014326-HP_0000007-GENCC_100003"	"HGNC:16905"	"KLHL41"	"MONDO:0014326"	"nemaline myopathy 9"	"MONDO:0014326"	"nemaline myopathy 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16905"	"KLHL41"	"MONDO:0014326"	"nemaline myopathy 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-11-05 13:49:28"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6bd51c2-e7b8-4938-a700-fd0e393143a7-2019-11-05T134928.155Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b6bd51c2-e7b8-4938-a700-fd0e393143a7"	"2024-04-21"
"GENCC_000102-HGNC_6357-MONDO_0015924-HP_0000006-GENCC_100004"	"HGNC:6357"	"KLK1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6357"	"KLK1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d29c7f8-ced6-43b3-b124-8d4039c6f99b-2022-11-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d29c7f8-ced6-43b3-b124-8d4039c6f99b"	"2024-04-21"
"GENCC_000102-HGNC_6371-MONDO_0012901-HP_0000007-GENCC_100001"	"HGNC:6371"	"KLKB1"	"MONDO:0012901"	"inherited prekallikrein deficiency"	"MONDO:0012901"	"inherited prekallikrein deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6371"	"KLKB1"	"MONDO:0012901"	"inherited prekallikrein deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ada3e3e0-165c-4bfb-af20-d811b7b8d9b8-2022-12-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ada3e3e0-165c-4bfb-af20-d811b7b8d9b8"	"2024-04-21"
"GENCC_000102-HGNC_6381-MONDO_0019975-HP_0000007-GENCC_100008"	"HGNC:6381"	"KMO"	"MONDO:0019975"	"pellagra"	"MONDO:0019975"	"pellagra"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6381"	"KMO"	"MONDO:0019975"	"pellagra"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2023-05-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47847642-c495-43ac-92d4-854ecdd773ba-2023-05-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"47847642-c495-43ac-92d4-854ecdd773ba"	"2024-04-21"
"GENCC_000102-HGNC_7132-MONDO_0011518-HP_0000006-GENCC_100001"	"HGNC:7132"	"KMT2A"	"MONDO:0011518"	"Wiedemann-Steiner syndrome"	"MONDO:0011518"	"Wiedemann-Steiner syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7132"	"KMT2A"	"MONDO:0011518"	"Wiedemann-Steiner syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-22 00:28:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a002e1eb-0420-4889-b3f1-b8fe226786f9-2022-05-22T002824.468Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a002e1eb-0420-4889-b3f1-b8fe226786f9"	"2024-04-21"
"GENCC_000102-HGNC_15840-MONDO_0100516-HP_0000006-GENCC_100001"	"HGNC:15840"	"KMT2B"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15840"	"KMT2B"	"MONDO:0100516"	"complex neurodevelopmental disorder with motor features"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-17 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de51a52b-05a3-4429-874f-a38e280ecbaf-2023-04-17T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"de51a52b-05a3-4429-874f-a38e280ecbaf"	"2024-04-21"
"GENCC_000102-HGNC_13726-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:13726"	"KMT2C"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13726"	"KMT2C"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1dcdd6c-30e0-4d06-8df5-f120b1b02477-2022-03-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e1dcdd6c-30e0-4d06-8df5-f120b1b02477"	"2024-04-21"
"GENCC_000102-HGNC_7133-MONDO_0007843-HP_0000006-GENCC_100001"	"HGNC:7133"	"KMT2D"	"MONDO:0007843"	"Kabuki syndrome 1"	"MONDO:0007843"	"Kabuki syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7133"	"KMT2D"	"MONDO:0007843"	"Kabuki syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-21 14:55:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15029985-0c1a-4835-95fe-eb05dedaf85c-2021-10-21T145501.022Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"15029985-0c1a-4835-95fe-eb05dedaf85c"	"2024-04-21"
"GENCC_000102-HGNC_18541-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:18541"	"KMT2E"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18541"	"KMT2E"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-02 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d0a0603-e446-4bb9-a202-4f8066a60c5a-2022-08-02T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2d0a0603-e446-4bb9-a202-4f8066a60c5a"	"2024-04-21"
"GENCC_000102-HGNC_24283-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:24283"	"KMT5B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24283"	"KMT5B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-08 07:23:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_885d56b0-a2b0-4a3d-9f11-4034298e074e-2022-04-08T072351.945Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"885d56b0-a2b0-4a3d-9f11-4034298e074e"	"2024-04-21"
"GENCC_000102-HGNC_6383-MONDO_0009234-HP_0000007-GENCC_100001"	"HGNC:6383"	"KNG1"	"MONDO:0009234"	"congenital high-molecular-weight kininogen deficiency"	"MONDO:0009234"	"congenital high-molecular-weight kininogen deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6383"	"KNG1"	"MONDO:0009234"	"congenital high-molecular-weight kininogen deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6dbf4bc1-b04f-4f1d-8c11-2b7998370293-2021-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6dbf4bc1-b04f-4f1d-8c11-2b7998370293"	"2024-04-21"
"GENCC_000102-HGNC_6407-MONDO_0015280-HP_0000006-GENCC_100002"	"HGNC:6407"	"KRAS"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6407"	"KRAS"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_248e0d6b-9300-4d17-a350-f742fa92c82c-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"248e0d6b-9300-4d17-a350-f742fa92c82c"	"2024-04-21"
"GENCC_000102-HGNC_6407-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:6407"	"KRAS"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6407"	"KRAS"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6476a5fd-8f66-462b-b17a-43540dad3c1f-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6476a5fd-8f66-462b-b17a-43540dad3c1f"	"2024-04-21"
"GENCC_000102-HGNC_6407-MONDO_0009026-HP_0000006-GENCC_100005"	"HGNC:6407"	"KRAS"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6407"	"KRAS"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc9a82d0-8447-454c-8d54-def792d20e1d-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bc9a82d0-8447-454c-8d54-def792d20e1d"	"2024-04-21"
"GENCC_000102-HGNC_6469-MONDO_0060555-HP_0000007-GENCC_100001"	"HGNC:6469"	"KYNU"	"MONDO:0060555"	"vertebral, cardiac, renal, and limb defects syndrome 2"	"MONDO:0060555"	"vertebral, cardiac, renal, and limb defects syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6469"	"KYNU"	"MONDO:0060555"	"vertebral, cardiac, renal, and limb defects syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70d2f25f-b3f0-4f1b-b7bf-ad8d3562c959-2022-10-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"70d2f25f-b3f0-4f1b-b7bf-ad8d3562c959"	"2024-04-21"
"GENCC_000102-HGNC_6470-MONDO_0017140-HP_0001417-GENCC_100001"	"HGNC:6470"	"L1CAM"	"MONDO:0017140"	"L1 syndrome"	"MONDO:0017140"	"L1 syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:6470"	"L1CAM"	"MONDO:0017140"	"L1 syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8541f5b-a166-44cd-a7f3-fce263ef8fde-2019-10-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e8541f5b-a166-44cd-a7f3-fce263ef8fde"	"2024-04-21"
"GENCC_000102-HGNC_20499-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:20499"	"L2HGDH"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20499"	"L2HGDH"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-31 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_77d708b3-e8e3-4739-832b-0395a63f7342-2023-07-31T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"77d708b3-e8e3-4739-832b-0395a63f7342"	"2024-04-21"
"GENCC_000102-HGNC_6482-MONDO_0100228-HP_0000007-GENCC_100001"	"HGNC:6482"	"LAMA2"	"MONDO:0100228"	"LAMA2-related muscular dystrophy"	"MONDO:0100228"	"LAMA2-related muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6482"	"LAMA2"	"MONDO:0100228"	"LAMA2-related muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-14 20:46:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53f18520-6a7c-4781-ad0e-09250570f10e-2022-03-14T204607.096Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"53f18520-6a7c-4781-ad0e-09250570f10e"	"2024-04-21"
"GENCC_000102-HGNC_6484-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:6484"	"LAMA4"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6484"	"LAMA4"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e937f98e-7577-48bd-a24a-361634ba0a8d-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e937f98e-7577-48bd-a24a-361634ba0a8d"	"2024-04-21"
"GENCC_000102-HGNC_6486-MONDO_0014077-HP_0000007-GENCC_100003"	"HGNC:6486"	"LAMB1"	"MONDO:0014077"	"cobblestone lissencephaly without muscular or ocular involvement"	"MONDO:0014077"	"cobblestone lissencephaly without muscular or ocular involvement"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6486"	"LAMB1"	"MONDO:0014077"	"cobblestone lissencephaly without muscular or ocular involvement"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2016-11-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5461"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5461"	"2024-04-21"
"GENCC_000102-HGNC_6494-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:6494"	"LAMC3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6494"	"LAMC3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-09-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ff89702-c97e-4ef9-91ce-2e37b66efd84-2020-09-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0ff89702-c97e-4ef9-91ce-2e37b66efd84"	"2024-04-21"
"GENCC_000102-HGNC_6501-MONDO_0010281-HP_0001417-GENCC_100001"	"HGNC:6501"	"LAMP2"	"MONDO:0010281"	"Danon disease"	"MONDO:0010281"	"Danon disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:6501"	"LAMP2"	"MONDO:0010281"	"Danon disease"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-10-11 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f0d4050-f510-438d-a477-0a12669945d8-2017-10-11T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f0d4050-f510-438d-a477-0a12669945d8"	"2024-04-21"
"GENCC_000102-HGNC_17095-MONDO_0017312-HP_0000007-GENCC_100002"	"HGNC:17095"	"LARS2"	"MONDO:0017312"	"Perrault syndrome"	"MONDO:0017312"	"Perrault syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17095"	"LARS2"	"MONDO:0017312"	"Perrault syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2018-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8afe11e7-7c53-46e2-b48e-37ee2bc144ce-2018-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8afe11e7-7c53-46e2-b48e-37ee2bc144ce"	"2024-04-21"
"GENCC_000102-HGNC_25726-MONDO_0020119-HP_0001417-GENCC_100004"	"HGNC:25726"	"LAS1L"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:25726"	"LAS1L"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5b85dbb-3d49-4924-8294-e518ff56f048-2021-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c5b85dbb-3d49-4924-8294-e518ff56f048"	"2024-04-21"
"GENCC_000102-HGNC_18874-MONDO_0044721-HP_0000007-GENCC_100002"	"HGNC:18874"	"LAT"	"MONDO:0044721"	"severe combined immunodeficiency due to LAT deficiency"	"MONDO:0044721"	"severe combined immunodeficiency due to LAT deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18874"	"LAT"	"MONDO:0044721"	"severe combined immunodeficiency due to LAT deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-05-10 13:56:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf4a8572-c5ab-4a57-a9b3-ef1059180e8a-2022-05-10T135616.950Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bf4a8572-c5ab-4a57-a9b3-ef1059180e8a"	"2024-04-21"
"GENCC_000102-HGNC_6518-MONDO_0008974-HP_0000007-GENCC_100003"	"HGNC:6518"	"LBR"	"MONDO:0008974"	"Greenberg dysplasia"	"MONDO:0008974"	"Greenberg dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6518"	"LBR"	"MONDO:0008974"	"Greenberg dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-11-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41096010-f7fc-49a5-be97-a20fc73e7e33-2023-11-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41096010-f7fc-49a5-be97-a20fc73e7e33"	"2024-04-21"
"GENCC_000102-HGNC_6518-MONDO_0018663-HP_0000007-GENCC_100003"	"HGNC:6518"	"LBR"	"MONDO:0018663"	"regressive spondylometaphyseal dysplasia"	"MONDO:0018663"	"regressive spondylometaphyseal dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6518"	"LBR"	"MONDO:0018663"	"regressive spondylometaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9363af5e-5076-4f7b-bff3-3c15751bca92-2023-08-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9363af5e-5076-4f7b-bff3-3c15751bca92"	"2024-04-21"
"GENCC_000102-HGNC_31923-MONDO_0100445-HP_0000007-GENCC_100001"	"HGNC:31923"	"LCA5"	"MONDO:0100445"	"LCA5-related retinopathy"	"MONDO:0100445"	"LCA5-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:31923"	"LCA5"	"MONDO:0100445"	"LCA5-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ece57d88-4307-420a-aedb-4b5900248ea1-2021-10-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ece57d88-4307-420a-aedb-4b5900248ea1"	"2024-04-21"
"GENCC_000102-HGNC_6524-MONDO_0014334-HP_0000007-GENCC_100003"	"HGNC:6524"	"LCK"	"MONDO:0014334"	"severe combined immunodeficiency due to LCK deficiency"	"MONDO:0014334"	"severe combined immunodeficiency due to LCK deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6524"	"LCK"	"MONDO:0014334"	"severe combined immunodeficiency due to LCK deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e301c04-c0a1-4e0f-a9e4-69a6bd4be915-2022-06-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3e301c04-c0a1-4e0f-a9e4-69a6bd4be915"	"2024-04-21"
"GENCC_000102-HGNC_15710-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:15710"	"LDB3"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15710"	"LDB3"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7756e3c0-5a16-49b8-ac0f-220e79a4fa99-2020-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7756e3c0-5a16-49b8-ac0f-220e79a4fa99"	"2024-04-21"
"GENCC_000102-HGNC_15710-MONDO_0016587-HP_0000006-GENCC_100005"	"HGNC:15710"	"LDB3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15710"	"LDB3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2019-09-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ebdc3e8-2e0a-4a5e-8906-8e616d14008b-2019-09-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8ebdc3e8-2e0a-4a5e-8906-8e616d14008b"	"2024-04-21"
"GENCC_000102-HGNC_6547-MONDO_0007750-HP_0032113-GENCC_100001"	"HGNC:6547"	"LDLR"	"MONDO:0007750"	"hypercholesterolemia, familial, 1"	"MONDO:0007750"	"hypercholesterolemia, familial, 1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:6547"	"LDLR"	"MONDO:0007750"	"hypercholesterolemia, familial, 1"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-24 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81788cfe-7520-4821-b80b-3ee0b2018909-2021-02-24T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"81788cfe-7520-4821-b80b-3ee0b2018909"	"2024-04-21"
"GENCC_000102-HGNC_18640-MONDO_0011374-HP_0000007-GENCC_100001"	"HGNC:18640"	"LDLRAP1"	"MONDO:0011374"	"hypercholesterolemia, familial, 4"	"MONDO:0011374"	"hypercholesterolemia, familial, 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18640"	"LDLRAP1"	"MONDO:0011374"	"hypercholesterolemia, familial, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ade5ed9-10e4-44f4-b02e-cc17ba68f1ab-2022-09-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7ade5ed9-10e4-44f4-b02e-cc17ba68f1ab"	"2024-04-21"
"GENCC_000102-HGNC_3122-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:3122"	"LEFTY2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3122"	"LEFTY2"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2024-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b409905-0612-4f4a-88e1-2fd978cf4554-2024-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7b409905-0612-4f4a-88e1-2fd978cf4554"	"2024-04-21"
"GENCC_000102-HGNC_25012-MONDO_0004976-HP_0000005-GENCC_100004"	"HGNC:25012"	"LGALSL"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:25012"	"LGALSL"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a2db59f-5293-4e5d-ae34-5a38d8c6ebdf-2023-02-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5a2db59f-5293-4e5d-ae34-5a38d8c6ebdf"	"2024-04-21"
"GENCC_000102-HGNC_6572-MONDO_0010898-HP_0000006-GENCC_100001"	"HGNC:6572"	"LGI1"	"MONDO:0010898"	"autosomal dominant epilepsy with auditory features"	"MONDO:0010898"	"autosomal dominant epilepsy with auditory features"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6572"	"LGI1"	"MONDO:0010898"	"autosomal dominant epilepsy with auditory features"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-07 18:39:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_662936d4-11a7-43f3-9daf-4ba1a7c92ffe-2020-07-07T183907.849Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"662936d4-11a7-43f3-9daf-4ba1a7c92ffe"	"2024-04-21"
"GENCC_000102-HGNC_21253-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:21253"	"LHFPL5"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21253"	"LHFPL5"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a029f02-3524-4932-9293-9c02304fdd2b-2018-04-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8a029f02-3524-4932-9293-9c02304fdd2b"	"2024-04-21"
"GENCC_000102-HGNC_16429-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:16429"	"LIAS"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16429"	"LIAS"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-03-11 17:19:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec6f6c96-262d-4ab8-ab7a-b09d585689ca-2021-03-11T171936.261Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ec6f6c96-262d-4ab8-ab7a-b09d585689ca"	"2024-04-21"
"GENCC_000102-HGNC_6597-MONDO_0011108-HP_0000007-GENCC_100001"	"HGNC:6597"	"LIFR"	"MONDO:0011108"	"Stüve-Wiedemann syndrome"	"MONDO:0011108"	"Stüve-Wiedemann syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6597"	"LIFR"	"MONDO:0011108"	"obsolete Stüve-Wiedemann syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 14:51:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e336431-a56a-4144-8554-6fe62e4cb298-2021-07-27T145127.876Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e336431-a56a-4144-8554-6fe62e4cb298"	"2024-04-21"
"GENCC_000102-HGNC_6601-MONDO_0011686-HP_0000007-GENCC_100001"	"HGNC:6601"	"LIG4"	"MONDO:0011686"	"DNA ligase IV deficiency"	"MONDO:0011686"	"DNA ligase IV deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6601"	"LIG4"	"MONDO:0011686"	"DNA ligase IV deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-16 23:01:48"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec863c8-d668-4ebf-806e-e01f5a6407fe-2021-04-16T230148.883Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ec863c8-d668-4ebf-806e-e01f5a6407fe"	"2024-04-21"
"GENCC_000102-HGNC_30922-MONDO_0100038-HP_0000007-GENCC_100001"	"HGNC:30922"	"LINS1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30922"	"LINS1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-07 06:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18885d8b-bd77-4386-a046-e39b7a9c4685-2023-02-07T063000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"18885d8b-bd77-4386-a046-e39b7a9c4685"	"2024-04-21"
"GENCC_000102-HGNC_6617-MONDO_0010204-HP_0000007-GENCC_100001"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"MONDO:0010204"	"lysosomal acid lipase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6617"	"LIPA"	"MONDO:0010204"	"obsolete lysosomal acid lipase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1691be18-3aa2-46e7-b6a6-e7acafb9f998-2023-04-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1691be18-3aa2-46e7-b6a6-e7acafb9f998"	"2024-04-21"
"GENCC_000102-HGNC_29569-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:29569"	"LIPT1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29569"	"LIPT1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-04-09 14:29:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55d66b81-fe31-4965-b5fc-483393af820d-2021-04-09T142912.496Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"55d66b81-fe31-4965-b5fc-483393af820d"	"2024-04-21"
"GENCC_000102-HGNC_16841-MONDO_0015626-HP_0000006-GENCC_100003"	"HGNC:16841"	"LITAF"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16841"	"LITAF"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-04-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7106097-314c-487a-9770-b7dea3f25f37-2020-04-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e7106097-314c-487a-9770-b7dea3f25f37"	"2024-04-21"
"GENCC_000102-HGNC_6631-MONDO_0009206-HP_0000007-GENCC_100001"	"HGNC:6631"	"LMAN1"	"MONDO:0009206"	"factor V and factor VIII, combined deficiency of, type 1"	"MONDO:0009206"	"factor V and factor VIII, combined deficiency of, type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6631"	"LMAN1"	"MONDO:0009206"	"factor V and factor VIII, combined deficiency of, type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31792b8d-aca4-4832-b7f7-1993611777d7-2019-11-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"31792b8d-aca4-4832-b7f7-1993611777d7"	"2024-04-21"
"GENCC_000102-HGNC_23038-MONDO_0010183-HP_0000007-GENCC_100001"	"HGNC:23038"	"LMBRD1"	"MONDO:0010183"	"methylmalonic aciduria and homocystinuria type cblF"	"MONDO:0010183"	"methylmalonic aciduria and homocystinuria type cblF"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23038"	"LMBRD1"	"MONDO:0010183"	"methylmalonic aciduria and homocystinuria type cblF"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14c077fe-c0ff-43d5-8436-041db18b20b1-2021-03-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14c077fe-c0ff-43d5-8436-041db18b20b1"	"2024-04-21"
"GENCC_000102-HGNC_6636-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:6636"	"LMNA"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6636"	"LMNA"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-06 17:53:04"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132ea1ec-caa9-409a-8670-3edb2ec9c889-2020-11-06T175304.195Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"132ea1ec-caa9-409a-8670-3edb2ec9c889"	"2024-04-21"
"GENCC_000102-HGNC_6636-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:6636"	"LMNA"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6636"	"LMNA"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-09-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef503af9-9d10-4714-848b-34cfa0049c23-2019-09-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ef503af9-9d10-4714-848b-34cfa0049c23"	"2024-04-21"
"GENCC_000102-HGNC_6649-MONDO_0014513-HP_0000007-GENCC_100001"	"HGNC:6649"	"LMOD3"	"MONDO:0014513"	"nemaline myopathy 10"	"MONDO:0014513"	"nemaline myopathy 10"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6649"	"LMOD3"	"MONDO:0014513"	"nemaline myopathy 10"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af248a78-5ef6-4c0b-b174-f43cc4688ec9-2019-09-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"af248a78-5ef6-4c0b-b174-f43cc4688ec9"	"2024-04-21"
"GENCC_000102-HGNC_6654-MONDO_0008061-HP_0000006-GENCC_100001"	"HGNC:6654"	"LMX1B"	"MONDO:0008061"	"nail-patella syndrome"	"MONDO:0008061"	"nail-patella syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6654"	"LMX1B"	"MONDO:0008061"	"nail-patella syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 14:42:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c89e1a52-3ef8-4a61-bf56-1e43cf88fc6e-2021-07-27T144211.405Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c89e1a52-3ef8-4a61-bf56-1e43cf88fc6e"	"2024-04-21"
"GENCC_000102-HGNC_9479-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:9479"	"LONP1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9479"	"LONP1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-09 14:02:15"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da0a308-3a7e-4101-b40b-1f23db106aea-2021-04-09T140215.539Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3da0a308-3a7e-4101-b40b-1f23db106aea"	"2024-04-21"
"GENCC_000102-HGNC_6664-MONDO_0019625-HP_0000006-GENCC_100002"	"HGNC:6664"	"LOX"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6664"	"LOX"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2016-07-25 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8258"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8258"	"2024-04-21"
"GENCC_000102-HGNC_26521-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:26521"	"LOXHD1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26521"	"LOXHD1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-08 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a35c0909-7546-465c-a069-47e901fce483-2018-05-08T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a35c0909-7546-465c-a069-47e901fce483"	"2024-04-21"
"GENCC_000102-HGNC_13345-MONDO_0009992-HP_0000007-GENCC_100001"	"HGNC:13345"	"LPIN1"	"MONDO:0009992"	"myoglobinuria, acute recurrent, autosomal recessive"	"MONDO:0009992"	"myoglobinuria, acute recurrent, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13345"	"LPIN1"	"MONDO:0009992"	"myoglobinuria, acute recurrent, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_642c8d4a-d498-4739-957d-a4e0d457362a-2018-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"642c8d4a-d498-4739-957d-a4e0d457362a"	"2024-04-21"
"GENCC_000102-HGNC_1742-MONDO_0013863-HP_0000007-GENCC_100001"	"HGNC:1742"	"LRBA"	"MONDO:0013863"	"combined immunodeficiency due to LRBA deficiency"	"MONDO:0013863"	"combined immunodeficiency due to LRBA deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1742"	"LRBA"	"MONDO:0013863"	"combined immunodeficiency due to LRBA deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-18 12:14:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b12eaaeb-cc9d-48b8-b9cd-c0b243f48287-2022-05-18T121409.964Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b12eaaeb-cc9d-48b8-b9cd-c0b243f48287"	"2024-04-21"
"GENCC_000102-HGNC_6696-MONDO_0008931-HP_0000007-GENCC_100001"	"HGNC:6696"	"LRP4"	"MONDO:0008931"	"Cenani-Lenz syndactyly syndrome"	"MONDO:0008931"	"Cenani-Lenz syndactyly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6696"	"LRP4"	"MONDO:0008931"	"Cenani-Lenz syndactyly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_725d13e2-a182-4e1e-8359-3c35a2ca46e9-2023-04-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"725d13e2-a182-4e1e-8359-3c35a2ca46e9"	"2024-04-21"
"GENCC_000102-HGNC_6696-MONDO_0014578-HP_0000007-GENCC_100004"	"HGNC:6696"	"LRP4"	"MONDO:0014578"	"congenital myasthenic syndrome 17"	"MONDO:0014578"	"congenital myasthenic syndrome 17"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6696"	"LRP4"	"MONDO:0014578"	"congenital myasthenic syndrome 17"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-04-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73e799e4-91c7-4ccc-a55f-10a80f619e08-2023-04-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"73e799e4-91c7-4ccc-a55f-10a80f619e08"	"2024-04-21"
"GENCC_000102-HGNC_6697-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:6697"	"LRP5"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6697"	"LRP5"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c46e0508-399f-48d0-9dbc-55f10cf8460d-2023-03-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c46e0508-399f-48d0-9dbc-55f10cf8460d"	"2024-04-21"
"GENCC_000102-HGNC_15714-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:15714"	"LRPPRC"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15714"	"LRPPRC"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-12-19 19:01:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79691365-1911-423c-ab14-73a1f509ed22-2019-12-19T190157.942Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"79691365-1911-423c-ab14-73a1f509ed22"	"2024-04-21"
"GENCC_000102-HGNC_20264-MONDO_0005021-HP_0000007-GENCC_100008"	"HGNC:20264"	"LRRC10"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20264"	"LRRC10"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7403d325-ff12-4c92-a308-b2054e9861c5-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7403d325-ff12-4c92-a308-b2054e9861c5"	"2024-04-21"
"GENCC_000102-HGNC_18618-MONDO_0005180-HP_0000006-GENCC_100001"	"HGNC:18618"	"LRRK2"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18618"	"LRRK2"	"MONDO:0005180"	"Parkinson disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2728e13a-b95a-4c55-8cba-082260094ecd-2021-05-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2728e13a-b95a-4c55-8cba-082260094ecd"	"2024-04-21"
"GENCC_000102-HGNC_25135-MONDO_0013753-HP_0000006-GENCC_100001"	"HGNC:25135"	"LRSAM1"	"MONDO:0013753"	"Charcot-Marie-Tooth disease axonal type 2P"	"MONDO:0013753"	"Charcot-Marie-Tooth disease axonal type 2P"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:25135"	"LRSAM1"	"MONDO:0013753"	"Charcot-Marie-Tooth disease axonal type 2P"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82dac4c0-801f-4704-b59d-0a9441423d5a-2023-11-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82dac4c0-801f-4704-b59d-0a9441423d5a"	"2024-04-21"
"GENCC_000102-HGNC_25033-MONDO_0012670-HP_0000007-GENCC_100001"	"HGNC:25033"	"LRTOMT"	"MONDO:0012670"	"autosomal recessive nonsyndromic hearing loss 63"	"MONDO:0012670"	"autosomal recessive nonsyndromic hearing loss 63"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25033"	"LRTOMT"	"MONDO:0012670"	"autosomal recessive nonsyndromic hearing loss 63"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5662"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5662"	"2024-04-21"
"GENCC_000102-HGNC_6715-MONDO_0013122-HP_0000007-GENCC_100001"	"HGNC:6715"	"LTBP2"	"MONDO:0013122"	"glaucoma 3, primary congenital, D"	"MONDO:0013122"	"glaucoma 3, primary congenital, D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6715"	"LTBP2"	"MONDO:0013122"	"glaucoma 3, primary congenital, D"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f3a9450-53ca-4e64-99c8-4cc195e851d5-2023-03-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8f3a9450-53ca-4e64-99c8-4cc195e851d5"	"2024-04-21"
"GENCC_000102-HGNC_28072-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:28072"	"LYRM7"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28072"	"LYRM7"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac7b4d77-f1e5-4b7a-a7c4-e37db6c49026-2022-04-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac7b4d77-f1e5-4b7a-a7c4-e37db6c49026"	"2024-04-21"
"GENCC_000102-HGNC_1968-MONDO_0008963-HP_0000007-GENCC_100001"	"HGNC:1968"	"LYST"	"MONDO:0008963"	"Chediak-Higashi syndrome"	"MONDO:0008963"	"Chediak-Higashi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1968"	"LYST"	"MONDO:0008963"	"Chediak-Higashi syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d752f7c-43d2-4ba9-910f-f286f5443012-2020-05-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5d752f7c-43d2-4ba9-910f-f286f5443012"	"2024-04-21"
"GENCC_000102-HGNC_6741-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:6741"	"LZTFL1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6741"	"LZTFL1"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e352868c-b5d8-451d-89ef-61a147ea7b4f-2024-01-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e352868c-b5d8-451d-89ef-61a147ea7b4f"	"2024-04-21"
"GENCC_000102-HGNC_6742-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:6742"	"LZTR1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6742"	"LZTR1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f21db9c-87ea-4095-96ca-4277eaa21232-2020-04-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6f21db9c-87ea-4095-96ca-4277eaa21232"	"2024-04-21"
"GENCC_000102-HGNC_6742-MONDO_0018997-HP_0000007-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6742"	"LZTR1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2020-09-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7aa1e103-4f77-4c50-99c5-621a6a837b95-2020-09-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7aa1e103-4f77-4c50-99c5-621a6a837b95"	"2024-04-21"
"GENCC_000102-HGNC_6758-MONDO_0014380-HP_0000006-GENCC_100001"	"HGNC:6758"	"MAB21L2"	"MONDO:0014380"	"colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"MONDO:0014380"	"colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6758"	"MAB21L2"	"MONDO:0014380"	"colobomatous microphthalmia-rhizomelic dysplasia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d89e935d-55fe-43f1-b2a3-d1f0eca74928-2023-07-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d89e935d-55fe-43f1-b2a3-d1f0eca74928"	"2024-04-21"
"GENCC_000102-HGNC_13664-MONDO_0100472-HP_0000006-GENCC_100003"	"HGNC:13664"	"MACF1"	"MONDO:0100472"	"lissencephaly spectrum disorder with complex brainstem malformation"	"MONDO:0100472"	"lissencephaly spectrum disorder with complex brainstem malformation"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13664"	"MACF1"	"MONDO:0100472"	"lissencephaly spectrum disorder with complex brainstem malformation"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67d61f95-4ea3-41a7-ab90-e642c2c65c2a-2023-07-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"67d61f95-4ea3-41a7-ab90-e642c2c65c2a"	"2024-04-21"
"GENCC_000102-HGNC_6783-MONDO_0015150-HP_0000007-GENCC_100001"	"HGNC:6783"	"MAG"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6783"	"MAG"	"MONDO:0015150"	"complex hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-20 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27976cb3-605a-4f56-a262-64dfd9793559-2023-11-20T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"27976cb3-605a-4f56-a262-64dfd9793559"	"2024-04-21"
"GENCC_000102-HGNC_6814-MONDO_0014243-HP_0000006-GENCC_100001"	"HGNC:6814"	"MAGEL2"	"MONDO:0014243"	"Schaaf-Yang syndrome"	"MONDO:0014243"	"Schaaf-Yang syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6814"	"MAGEL2"	"MONDO:0014243"	"Schaaf-Yang syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa89f10b-6ccf-4c69-aef3-fc2f6c8e6ea9-2021-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aa89f10b-6ccf-4c69-aef3-fc2f6c8e6ea9"	"2024-04-21"
"GENCC_000102-HGNC_18957-MONDO_0005027-HP_0000006-GENCC_100006"	"HGNC:18957"	"MAGI2"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18957"	"MAGI2"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-10-17 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d622b88-9c77-47f8-93b1-808517da0cff-2023-10-17T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7d622b88-9c77-47f8-93b1-808517da0cff"	"2024-04-21"
"GENCC_000102-HGNC_28880-MONDO_0100284-HP_0001417-GENCC_100005"	"HGNC:28880"	"MAGT1"	"MONDO:0100284"	"X-linked intellectual disability"	"MONDO:0100284"	"X-linked intellectual disability"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:28880"	"MAGT1"	"MONDO:0100284"	"X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d00155ee-71d6-4d9d-bb08-91a0dee42932-2023-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d00155ee-71d6-4d9d-bb08-91a0dee42932"	"2024-04-21"
"GENCC_000102-HGNC_6816-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:6816"	"MAK"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6816"	"MAK"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee785a8d-420d-4c3a-a585-c963d06df52e-2023-03-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ee785a8d-420d-4c3a-a585-c963d06df52e"	"2024-04-21"
"GENCC_000102-HGNC_6819-MONDO_0014197-HP_0000007-GENCC_100001"	"HGNC:6819"	"MALT1"	"MONDO:0014197"	"combined immunodeficiency due to MALT1 deficiency"	"MONDO:0014197"	"combined immunodeficiency due to MALT1 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6819"	"MALT1"	"MONDO:0014197"	"combined immunodeficiency due to MALT1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_537efc87-5f45-489b-9aa0-6bd3e029754e-2022-07-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"537efc87-5f45-489b-9aa0-6bd3e029754e"	"2024-04-21"
"GENCC_000102-HGNC_6823-MONDO_0018349-HP_0000007-GENCC_100001"	"HGNC:6823"	"MAN1B1"	"MONDO:0018349"	"MAN1B1-congenital disorder of glycosylation"	"MONDO:0018349"	"MAN1B1-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6823"	"MAN1B1"	"MONDO:0018349"	"MAN1B1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-04 11:47:02"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0f50bc5-f7ac-4e0a-9762-d6cad9cc4585-2020-08-04T114702.993Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e0f50bc5-f7ac-4e0a-9762-d6cad9cc4585"	"2024-04-21"
"GENCC_000102-HGNC_6826-MONDO_0009561-HP_0000007-GENCC_100001"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"alpha-mannosidosis"	"MONDO:0009561"	"alpha-mannosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6826"	"MAN2B1"	"MONDO:0009561"	"alpha-mannosidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef3b8e84-1f36-4aae-b167-b50dd074bf2b-2022-09-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ef3b8e84-1f36-4aae-b167-b50dd074bf2b"	"2024-04-21"
"GENCC_000102-HGNC_29623-MONDO_0800141-HP_0000007-GENCC_100004"	"HGNC:29623"	"MAN2B2"	"MONDO:0800141"	"MAN2B2 deficiency"	"MONDO:0800141"	"MAN2B2 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29623"	"MAN2B2"	"MONDO:0800141"	"MAN2B2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-01-18 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccfe9ebc-087e-4cdd-bb49-9cdc1f12e3ef-2024-01-18T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ccfe9ebc-087e-4cdd-bb49-9cdc1f12e3ef"	"2024-04-21"
"GENCC_000102-HGNC_6831-MONDO_0009562-HP_0000007-GENCC_100001"	"HGNC:6831"	"MANBA"	"MONDO:0009562"	"beta-mannosidosis"	"MONDO:0009562"	"beta-mannosidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6831"	"MANBA"	"MONDO:0009562"	"beta-mannosidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d70d38aa-f7e9-4c93-8160-58dec9cec010-2022-08-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d70d38aa-f7e9-4c93-8160-58dec9cec010"	"2024-04-21"
"GENCC_000102-HGNC_6833-MONDO_0010379-HP_0001417-GENCC_100001"	"HGNC:6833"	"MAOA"	"MONDO:0010379"	"Brunner syndrome"	"MONDO:0010379"	"Brunner syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:6833"	"MAOA"	"MONDO:0010379"	"Brunner syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-14 20:39:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20ffc014-ef31-4693-91c4-424bbe1e48dd-2020-04-14T203950.820Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20ffc014-ef31-4693-91c4-424bbe1e48dd"	"2024-04-21"
"GENCC_000102-HGNC_6840-MONDO_0018997-HP_0000006-GENCC_100004"	"HGNC:6840"	"MAP2K1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6840"	"MAP2K1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1eafd4b1-29b1-4a17-a7ac-2c555f2e2648-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1eafd4b1-29b1-4a17-a7ac-2c555f2e2648"	"2024-04-21"
"GENCC_000102-HGNC_6840-MONDO_0009026-HP_0000006-GENCC_100005"	"HGNC:6840"	"MAP2K1"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6840"	"MAP2K1"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d28301c-df25-4c10-9edb-34be26f2838d-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d28301c-df25-4c10-9edb-34be26f2838d"	"2024-04-21"
"GENCC_000102-HGNC_6840-MONDO_0007893-HP_0000006-GENCC_100004"	"HGNC:6840"	"MAP2K1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6840"	"MAP2K1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-05-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee3071d5-ea0d-4804-ad61-3c6471f6a47e-2018-05-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ee3071d5-ea0d-4804-ad61-3c6471f6a47e"	"2024-04-21"
"GENCC_000102-HGNC_6840-MONDO_0015280-HP_0000006-GENCC_100001"	"HGNC:6840"	"MAP2K1"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6840"	"MAP2K1"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8c7a090-0a97-4653-bd51-702a9f9144b9-2018-05-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f8c7a090-0a97-4653-bd51-702a9f9144b9"	"2024-04-21"
"GENCC_000102-HGNC_6842-MONDO_0018997-HP_0000006-GENCC_100004"	"HGNC:6842"	"MAP2K2"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6842"	"MAP2K2"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a0eeefd-9105-435d-9daf-c748e52b0941-2018-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6a0eeefd-9105-435d-9daf-c748e52b0941"	"2024-04-21"
"GENCC_000102-HGNC_6842-MONDO_0015280-HP_0000006-GENCC_100001"	"HGNC:6842"	"MAP2K2"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6842"	"MAP2K2"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7765e2a4-19e4-4b15-9233-4847606fc501-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7765e2a4-19e4-4b15-9233-4847606fc501"	"2024-04-21"
"GENCC_000102-HGNC_6853-MONDO_0018642-HP_0000007-GENCC_100003"	"HGNC:6853"	"MAP3K14"	"MONDO:0018642"	"NIK deficiency"	"MONDO:0018642"	"NIK deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6853"	"MAP3K14"	"MONDO:0018642"	"NIK deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-18 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3952c8fc-29f9-4c29-be1d-258bb2cd90fc-2023-07-18T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3952c8fc-29f9-4c29-be1d-258bb2cd90fc"	"2024-04-21"
"GENCC_000102-HGNC_17797-MONDO_0054695-HP_0000007-GENCC_100003"	"HGNC:17797"	"MAP3K20"	"MONDO:0054695"	"myopathy, centronuclear, 6, with fiber-type disproportion"	"MONDO:0054695"	"myopathy, centronuclear, 6, with fiber-type disproportion"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17797"	"MAP3K20"	"MONDO:0054695"	"myopathy, centronuclear, 6, with fiber-type disproportion"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-06-08 14:18:02"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03628749-51d6-437e-9816-1e32852645cf-2020-06-08T141802.817Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03628749-51d6-437e-9816-1e32852645cf"	"2024-04-21"
"GENCC_000102-HGNC_6884-MONDO_0032755-HP_0000006-GENCC_100001"	"HGNC:6884"	"MAPK8IP3"	"MONDO:0032755"	"neurodevelopmental disorder with or without variable brain abnormalities; NEDBA"	"MONDO:0032755"	"neurodevelopmental disorder with or without variable brain abnormalities; NEDBA"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6884"	"MAPK8IP3"	"MONDO:0032755"	"neurodevelopmental disorder with or without variable brain abnormalities; NEDBA"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-22 06:39:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7af4bd87-1d3d-4e52-929f-c3893f81c38a-2022-05-22T063958.942Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7af4bd87-1d3d-4e52-929f-c3893f81c38a"	"2024-04-21"
"GENCC_000102-HGNC_29536-MONDO_0014997-HP_0000007-GENCC_100002"	"HGNC:29536"	"MAPKBP1"	"MONDO:0014997"	"nephronophthisis 20"	"MONDO:0014997"	"nephronophthisis 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29536"	"MAPKBP1"	"MONDO:0014997"	"nephronophthisis 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2021-05-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8542450-d48b-45ba-bd5f-4e55d210aa6b-2021-05-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b8542450-d48b-45ba-bd5f-4e55d210aa6b"	"2024-04-21"
"GENCC_000102-HGNC_6898-MONDO_0015626-HP_0000006-GENCC_100004"	"HGNC:6898"	"MARS1"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6898"	"MARS1"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-10-05 16:06:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f042c42-893b-4c98-a719-0f778a54be43-2020-10-05T160651.479Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8f042c42-893b-4c98-a719-0f778a54be43"	"2024-04-21"
"GENCC_000102-HGNC_25133-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:25133"	"MARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25133"	"MARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b65af5c2-f03e-4e10-a2c4-e4524b64f1cc-2022-05-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b65af5c2-f03e-4e10-a2c4-e4524b64f1cc"	"2024-04-21"
"GENCC_000102-HGNC_26401-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:26401"	"MARVELD2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26401"	"MARVELD2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba6df3f7-a000-401c-94d9-0dc5cb901f32-2018-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ba6df3f7-a000-401c-94d9-0dc5cb901f32"	"2024-04-21"
"GENCC_000102-HGNC_6903-MONDO_0009607-HP_0000007-GENCC_100001"	"HGNC:6903"	"MAT1A"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6903"	"MAT1A"	"MONDO:0009607"	"methionine adenosyltransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35cff382-98fe-4103-8edc-101f0c565a9e-2019-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"35cff382-98fe-4103-8edc-101f0c565a9e"	"2024-04-21"
"GENCC_000102-HGNC_6904-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:6904"	"MAT2A"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6904"	"MAT2A"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-07-03 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8263"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8263"	"2024-04-21"
"GENCC_000102-HGNC_6912-MONDO_0011632-HP_0000006-GENCC_100003"	"HGNC:6912"	"MATR3"	"MONDO:0011632"	"amyotrophic lateral sclerosis type 21"	"MONDO:0011632"	"amyotrophic lateral sclerosis type 21"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6912"	"MATR3"	"MONDO:0011632"	"amyotrophic lateral sclerosis type 21"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-09-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97ed1e35-c1b2-40c7-a60e-54b3c24004c4-2021-09-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"97ed1e35-c1b2-40c7-a60e-54b3c24004c4"	"2024-04-21"
"GENCC_000102-HGNC_6913-MONDO_0017366-HP_0000006-GENCC_100001"	"HGNC:6913"	"MAX"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6913"	"MAX"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-16 14:46:32"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ae9a06-6429-4b4b-b008-e1454511d5be-2021-06-16T144632.357Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f3ae9a06-6429-4b4b-b008-e1454511d5be"	"2024-04-21"
"GENCC_000102-HGNC_20444-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:20444"	"MBD5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20444"	"MBD5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_952cb4f8-e59b-4edb-a393-0266e0008963-2023-02-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"952cb4f8-e59b-4edb-a393-0266e0008963"	"2024-04-21"
"GENCC_000102-HGNC_15455-MONDO_0100213-HP_0001417-GENCC_100001"	"HGNC:15455"	"MBTPS2"	"MONDO:0100213"	"IFAP syndrome 1, with or without BRESHECK syndrome"	"MONDO:0100213"	"IFAP syndrome 1, with or without BRESHECK syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:15455"	"MBTPS2"	"MONDO:0100213"	"IFAP syndrome 1, with or without BRESHECK syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-17 14:52:33"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13a8a124-1071-4150-b6ea-0165cbf41c2d-2021-05-17T145233.620Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"13a8a124-1071-4150-b6ea-0165cbf41c2d"	"2024-04-21"
"GENCC_000102-HGNC_6936-MONDO_0018950-HP_0000007-GENCC_100001"	"HGNC:6936"	"MCCC1"	"MONDO:0018950"	"3-methylcrotonyl-CoA carboxylase deficiency"	"MONDO:0018950"	"3-methylcrotonyl-CoA carboxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6936"	"MCCC1"	"MONDO:0018950"	"3-methylcrotonyl-CoA carboxylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bd0c545-9ef8-4005-a124-a73be6178745-2019-10-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6bd0c545-9ef8-4005-a124-a73be6178745"	"2024-04-21"
"GENCC_000102-HGNC_6937-MONDO_0018950-HP_0000007-GENCC_100001"	"HGNC:6937"	"MCCC2"	"MONDO:0018950"	"3-methylcrotonyl-CoA carboxylase deficiency"	"MONDO:0018950"	"3-methylcrotonyl-CoA carboxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6937"	"MCCC2"	"MONDO:0018950"	"3-methylcrotonyl-CoA carboxylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3653ea30-b630-499a-a6f0-65152106ad8c-2019-10-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3653ea30-b630-499a-a6f0-65152106ad8c"	"2024-04-21"
"GENCC_000102-HGNC_16732-MONDO_0009615-HP_0000007-GENCC_100001"	"HGNC:16732"	"MCEE"	"MONDO:0009615"	"methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"	"MONDO:0009615"	"methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16732"	"MCEE"	"MONDO:0009615"	"methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8546531-fe3d-48fd-8103-f5f84fd04514-2020-07-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b8546531-fe3d-48fd-8103-f5f84fd04514"	"2024-04-21"
"GENCC_000102-HGNC_18451-MONDO_0013331-HP_0000007-GENCC_100001"	"HGNC:18451"	"MCFD2"	"MONDO:0013331"	"factor 5 and Factor VIII, combined deficiency of, 2"	"MONDO:0013331"	"factor 5 and Factor VIII, combined deficiency of, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18451"	"MCFD2"	"MONDO:0013331"	"factor 5 and Factor VIII, combined deficiency of, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afa4ae2a-c40d-4f25-affe-852a67144cdd-2020-06-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afa4ae2a-c40d-4f25-affe-852a67144cdd"	"2024-04-21"
"GENCC_000102-HGNC_40050-MONDO_0032872-HP_0000007-GENCC_100001"	"HGNC:40050"	"MCIDAS"	"MONDO:0032872"	"ciliary dyskinesia, primary, 42"	"MONDO:0032872"	"ciliary dyskinesia, primary, 42"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:40050"	"MCIDAS"	"MONDO:0032872"	"ciliary dyskinesia, primary, 42"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-29 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_866c87d2-9c7d-4f5e-bd7f-358d8e44fa54-2022-12-29T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"866c87d2-9c7d-4f5e-bd7f-358d8e44fa54"	"2024-04-21"
"GENCC_000102-HGNC_6944-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:6944"	"MCM2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6944"	"MCM2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-04-21 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29172723-c896-4cbf-a20b-9921fc72547f-2020-04-21T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29172723-c896-4cbf-a20b-9921fc72547f"	"2024-04-21"
"GENCC_000102-HGNC_6946-MONDO_0029131-HP_0000007-GENCC_100001"	"HGNC:6946"	"MCM3AP"	"MONDO:0029131"	"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"MONDO:0029131"	"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6946"	"MCM3AP"	"MONDO:0029131"	"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24bcbb92-9401-4659-beea-022646ee8930-2023-05-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"24bcbb92-9401-4659-beea-022646ee8930"	"2024-04-21"
"GENCC_000102-HGNC_6947-MONDO_0012383-HP_0000007-GENCC_100003"	"HGNC:6947"	"MCM4"	"MONDO:0012383"	"primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"	"MONDO:0012383"	"primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6947"	"MCM4"	"MONDO:0012383"	"primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9386eb47-5424-4f27-94d5-0d6709a6587e-2023-08-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9386eb47-5424-4f27-94d5-0d6709a6587e"	"2024-04-21"
"GENCC_000102-HGNC_13356-MONDO_0009653-HP_0000007-GENCC_100001"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"mucolipidosis type IV"	"MONDO:0009653"	"mucolipidosis type IV"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13356"	"MCOLN1"	"MONDO:0009653"	"mucolipidosis type IV"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_baf3301d-214e-46b5-8053-5217b52fe6c2-2022-09-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"baf3301d-214e-46b5-8053-5217b52fe6c2"	"2024-04-21"
"GENCC_000102-HGNC_6954-MONDO_0016419-HP_0000006-GENCC_100004"	"HGNC:6954"	"MCPH1"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6954"	"MCPH1"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-01-11 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8524"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8524"	"2024-04-21"
"GENCC_000102-HGNC_6954-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:6954"	"MCPH1"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6954"	"MCPH1"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-01-11 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8525"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8525"	"2024-04-21"
"GENCC_000102-HGNC_6954-MONDO_0100200-HP_0000007-GENCC_100001"	"HGNC:6954"	"MCPH1"	"MONDO:0100200"	"microcephaly with intellectual disability"	"MONDO:0100200"	"microcephaly with intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6954"	"MCPH1"	"MONDO:0100200"	"microcephaly with intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-17 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c193837-0c45-4363-8953-a49f08e242a0-2023-01-17T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7c193837-0c45-4363-8953-a49f08e242a0"	"2024-04-21"
"GENCC_000102-HGNC_3498-MONDO_0100458-HP_0000006-GENCC_100001"	"HGNC:3498"	"MECOM"	"MONDO:0100458"	"MECOM-associated syndrome"	"MONDO:0100458"	"MECOM-associated syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3498"	"MECOM"	"MONDO:0100458"	"MECOM-associated syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d25a48-f664-49c6-8ea4-dfddd0651209-2021-11-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1d25a48-f664-49c6-8ea4-dfddd0651209"	"2024-04-21"
"GENCC_000102-HGNC_6990-MONDO_0010726-HP_0001417-GENCC_100001"	"HGNC:6990"	"MECP2"	"MONDO:0010726"	"Rett syndrome"	"MONDO:0010726"	"Rett syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:6990"	"MECP2"	"MONDO:0010726"	"Rett syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-02 13:26:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2df006ff-5ab4-4926-9b72-48909b09e608-2018-05-02T132629.570Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2df006ff-5ab4-4926-9b72-48909b09e608"	"2024-04-21"
"GENCC_000102-HGNC_19691-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:19691"	"MECR"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19691"	"MECR"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-14 14:25:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_75fcef99-f3fe-43b3-a544-a91f04ed1285-2021-06-14T142534.349Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"75fcef99-f3fe-43b3-a544-a91f04ed1285"	"2024-04-21"
"GENCC_000102-HGNC_11957-MONDO_0100000-HP_0001417-GENCC_100001"	"HGNC:11957"	"MED12"	"MONDO:0100000"	"MED12-related intellectual disability syndrome"	"MONDO:0100000"	"MED12-related intellectual disability syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11957"	"MED12"	"MONDO:0100000"	"MED12-related intellectual disability syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-27 19:38:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afba0573-9f47-4814-bf3a-ef41f5512dee-2018-04-27T193808.041Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afba0573-9f47-4814-bf3a-ef41f5512dee"	"2024-04-21"
"GENCC_000102-HGNC_22474-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:22474"	"MED13"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:22474"	"MED13"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-17 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e82f63b1-ed0f-4dd0-8168-3aa4e0a4c2a9-2022-05-17T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e82f63b1-ed0f-4dd0-8168-3aa4e0a4c2a9"	"2024-04-21"
"GENCC_000102-HGNC_22962-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:22962"	"MED13L"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:22962"	"MED13L"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-21 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41758f8d-1f99-47fa-beb6-c327fa6cb940-2021-04-21T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41758f8d-1f99-47fa-beb6-c327fa6cb940"	"2024-04-21"
"GENCC_000102-HGNC_22962-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:22962"	"MED13L"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:22962"	"MED13L"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-02-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9479ebdd-98ef-48d1-8026-03360c19c23f-2024-02-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9479ebdd-98ef-48d1-8026-03360c19c23f"	"2024-04-21"
"GENCC_000102-HGNC_2372-MONDO_0000508-HP_0000007-GENCC_100003"	"HGNC:2372"	"MED23"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2372"	"MED23"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-04-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e8c75f0-39ae-4967-b95d-a92c55739876-2020-04-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6e8c75f0-39ae-4967-b95d-a92c55739876"	"2024-04-21"
"GENCC_000102-HGNC_28845-MONDO_0011570-HP_0000007-GENCC_100005"	"HGNC:28845"	"MED25"	"MONDO:0011570"	"Charcot-Marie-Tooth disease type 2B2"	"MONDO:0011570"	"Charcot-Marie-Tooth disease type 2B2"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28845"	"MED25"	"MONDO:0011570"	"Charcot-Marie-Tooth disease type 2B2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-03-22 20:15:27"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0e0d66f-c68d-4df3-bab2-71afc448e4b0-2021-03-22T201527.084Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c0e0d66f-c68d-4df3-bab2-71afc448e4b0"	"2024-04-21"
"GENCC_000102-HGNC_2377-MONDO_0859137-HP_0000007-GENCC_100002"	"HGNC:2377"	"MED27"	"MONDO:0859137"	"neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia"	"MONDO:0859137"	"neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2377"	"MED27"	"MONDO:0859137"	"neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58234a0f-9c8b-432f-9397-815ccfae66fc-2023-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"58234a0f-9c8b-432f-9397-815ccfae66fc"	"2024-04-21"
"GENCC_000102-HGNC_6996-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:6996"	"MEF2C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6996"	"MEF2C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34354e8f-4343-4fba-82ba-e49579e504bb-2019-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"34354e8f-4343-4fba-82ba-e49579e504bb"	"2024-04-21"
"GENCC_000102-HGNC_6998-MONDO_0018088-HP_0032113-GENCC_100001"	"HGNC:6998"	"MEFV"	"MONDO:0018088"	"familial Mediterranean fever"	"MONDO:0018088"	"familial Mediterranean fever"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:6998"	"MEFV"	"MONDO:0018088"	"familial Mediterranean fever"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d811d62e-7063-481a-922e-a3d1eb884971-2022-02-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d811d62e-7063-481a-922e-a3d1eb884971"	"2024-04-21"
"GENCC_000102-HGNC_29634-MONDO_0013731-HP_0000007-GENCC_100001"	"HGNC:29634"	"MEGF10"	"MONDO:0013731"	"MEGF10-related myopathy"	"MONDO:0013731"	"MEGF10-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29634"	"MEGF10"	"MONDO:0013731"	"MEGF10-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d00193c-b0fd-40b4-b5d5-51eecece9669-2020-01-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d00193c-b0fd-40b4-b5d5-51eecece9669"	"2024-04-21"
"GENCC_000102-HGNC_3233-MONDO_0013998-HP_0000007-GENCC_100003"	"HGNC:3233"	"MEGF8"	"MONDO:0013998"	"MEGF8-related Carpenter syndrome"	"MONDO:0013998"	"MEGF8-related Carpenter syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3233"	"MEGF8"	"MONDO:0013998"	"MEGF8-related Carpenter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-12-23 19:30:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd9400f1-2c0b-4ffd-989a-486b81779a53-2021-12-23T193047.075Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dd9400f1-2c0b-4ffd-989a-486b81779a53"	"2024-04-21"
"GENCC_000102-HGNC_7001-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:7001"	"MEIS2"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7001"	"MEIS2"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe156246-6e64-4096-a4c5-a83a3e70dbb9-2022-04-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fe156246-6e64-4096-a4c5-a83a3e70dbb9"	"2024-04-21"
"GENCC_000102-HGNC_7010-MONDO_0007540-HP_0000006-GENCC_100001"	"HGNC:7010"	"MEN1"	"MONDO:0007540"	"multiple endocrine neoplasia type 1"	"MONDO:0007540"	"multiple endocrine neoplasia type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7010"	"MEN1"	"MONDO:0007540"	"multiple endocrine neoplasia type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a40ef20e-115c-4667-b4a2-6c7c8fb07a49-2020-05-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a40ef20e-115c-4667-b4a2-6c7c8fb07a49"	"2024-04-21"
"GENCC_000102-HGNC_7027-MONDO_0800394-HP_0000007-GENCC_100001"	"HGNC:7027"	"MERTK"	"MONDO:0800394"	"MERTK-related retinopathy"	"MONDO:0800394"	"MERTK-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7027"	"MERTK"	"MONDO:0800394"	"MERTK-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b09e0755-aae3-47ef-b438-802285d5963b-2022-07-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b09e0755-aae3-47ef-b438-802285d5963b"	"2024-04-21"
"GENCC_000102-HGNC_7029-MONDO_0017884-HP_0000006-GENCC_100001"	"HGNC:7029"	"MET"	"MONDO:0017884"	"papillary renal cell carcinoma"	"MONDO:0017884"	"papillary renal cell carcinoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7029"	"MET"	"MONDO:0017884"	"papillary renal cell carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-11 18:47:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a71d9990-7202-487a-b7a3-4e659e0be73c-2018-10-11T184745.818Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a71d9990-7202-487a-b7a3-4e659e0be73c"	"2024-04-21"
"GENCC_000102-HGNC_7029-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:7029"	"MET"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7029"	"MET"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d55c61af-ef8e-475d-9ff7-454496cb6462-2021-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d55c61af-ef8e-475d-9ff7-454496cb6462"	"2024-04-21"
"GENCC_000102-HGNC_7029-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:7029"	"MET"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7029"	"MET"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-03-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0e6f9ac-f807-48fd-a5b6-bf67c4607e14-2021-03-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f0e6f9ac-f807-48fd-a5b6-bf67c4607e14"	"2024-04-21"
"GENCC_000102-HGNC_29673-MONDO_0019625-HP_0000006-GENCC_100003"	"HGNC:29673"	"MFAP5"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29673"	"MFAP5"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8264"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8264"	"2024-04-21"
"GENCC_000102-HGNC_24858-MONDO_0054865-HP_0000007-GENCC_100003"	"HGNC:24858"	"MFF"	"MONDO:0054865"	"encephalopathy due to mitochondrial and peroxisomal fission defect"	"MONDO:0054865"	"encephalopathy due to mitochondrial and peroxisomal fission defect"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24858"	"MFF"	"MONDO:0054865"	"encephalopathy due to mitochondrial and peroxisomal fission defect"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-04-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_021d15d7-dbf0-4b71-bbb5-48dc4a4b5ee6-2022-04-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"021d15d7-dbf0-4b71-bbb5-48dc4a4b5ee6"	"2024-04-21"
"GENCC_000102-HGNC_24858-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:24858"	"MFF"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24858"	"MFF"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-04-09 14:18:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4484881f-277f-47a2-b1dd-70072ec941e0-2021-04-09T141836.756Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4484881f-277f-47a2-b1dd-70072ec941e0"	"2024-04-21"
"GENCC_000102-HGNC_16877-MONDO_0018775-HP_0032113-GENCC_100001"	"HGNC:16877"	"MFN2"	"MONDO:0018775"	"axonal hereditary motor and sensory neuropathy"	"MONDO:0018775"	"axonal hereditary motor and sensory neuropathy"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:16877"	"MFN2"	"MONDO:0018775"	"obsolete axonal hereditary motor and sensory neuropathy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a04350b3-5fe9-438a-9e90-db0055ed15e7-2022-10-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a04350b3-5fe9-438a-9e90-db0055ed15e7"	"2024-04-21"
"GENCC_000102-HGNC_28486-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:28486"	"MFSD8"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28486"	"MFSD8"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f42cb66-5f28-4674-8f5a-76e15880bbfc-2020-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0f42cb66-5f28-4674-8f5a-76e15880bbfc"	"2024-04-21"
"GENCC_000102-HGNC_16205-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:16205"	"MGME1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16205"	"MGME1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-07 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15cc7c6b-dcdc-4289-a1c2-b4fad44c2f82-2023-08-07T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"15cc7c6b-dcdc-4289-a1c2-b4fad44c2f82"	"2024-04-21"
"GENCC_000102-HGNC_21086-MONDO_0005021-HP_0000006-GENCC_100008"	"HGNC:21086"	"MIB1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21086"	"MIB1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d97cecce-b9a7-42fb-bc2d-034468094949-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d97cecce-b9a7-42fb-bc2d-034468094949"	"2024-04-21"
"GENCC_000102-HGNC_33702-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:33702"	"MICOS13"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:33702"	"MICOS13"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-07 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b19a224-a6a5-4056-b69d-2d3090b8a9e6-2023-08-07T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2b19a224-a6a5-4056-b69d-2d3090b8a9e6"	"2024-04-21"
"GENCC_000102-HGNC_31830-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:31830"	"MICU2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:31830"	"MICU2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-10-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c0069ac-5c56-41c3-a008-f494802e7579-2023-10-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6c0069ac-5c56-41c3-a008-f494802e7579"	"2024-04-21"
"GENCC_000102-HGNC_7095-MONDO_0010222-HP_0001417-GENCC_100001"	"HGNC:7095"	"MID1"	"MONDO:0010222"	"X-linked Opitz G/BBB syndrome"	"MONDO:0010222"	"X-linked Opitz G/BBB syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:7095"	"MID1"	"MONDO:0010222"	"X-linked Opitz G/BBB syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-03-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2471967-d6b3-4ffb-a9fd-e3dbd089cb20-2018-03-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b2471967-d6b3-4ffb-a9fd-e3dbd089cb20"	"2024-04-21"
"GENCC_000102-HGNC_7104-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:7104"	"MIPEP"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7104"	"MIPEP"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-02-06 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c3a57a6-2bdb-420d-80fc-58a65a7863fb-2023-02-06T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0c3a57a6-2bdb-420d-80fc-58a65a7863fb"	"2024-04-21"
"GENCC_000102-HGNC_31648-MONDO_0019497-HP_0000006-GENCC_100003"	"HGNC:31648"	"MIR96"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:31648"	"MIR96"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01d1a7f4-8421-4be3-8fe7-2c2025f03ac9-2023-09-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"01d1a7f4-8421-4be3-8fe7-2c2025f03ac9"	"2024-04-21"
"GENCC_000102-HGNC_7105-MONDO_0019517-HP_0000006-GENCC_100001"	"HGNC:7105"	"MITF"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7105"	"MITF"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc5d40d2-44b5-49b6-97a9-7bdfc39bee49-2017-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bc5d40d2-44b5-49b6-97a9-7bdfc39bee49"	"2024-04-21"
"GENCC_000102-HGNC_7127-MONDO_0005835-HP_0000006-GENCC_100001"	"HGNC:7127"	"MLH1"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7127"	"MLH1"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24c5d3f4-2bb6-4beb-a781-52bd6962ca41-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"24c5d3f4-2bb6-4beb-a781-52bd6962ca41"	"2024-04-21"
"GENCC_000102-HGNC_7127-MONDO_0010159-HP_0000007-GENCC_100001"	"HGNC:7127"	"MLH1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7127"	"MLH1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-09 15:06:23"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a313ad2e-5c2a-4bb4-bed4-3b4f9b5095df-2018-10-09T150623.105Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a313ad2e-5c2a-4bb4-bed4-3b4f9b5095df"	"2024-04-21"
"GENCC_000102-HGNC_7127-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:7127"	"MLH1"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7127"	"MLH1"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c27a22e4-fc45-4888-8b1d-625bc649697c-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c27a22e4-fc45-4888-8b1d-625bc649697c"	"2024-04-21"
"GENCC_000102-HGNC_7128-MONDO_0013725-HP_0000006-GENCC_100003"	"HGNC:7128"	"MLH3"	"MONDO:0013725"	"colorectal cancer, hereditary nonpolyposis, type 7"	"MONDO:0013725"	"colorectal cancer, hereditary nonpolyposis, type 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7128"	"MLH3"	"MONDO:0013725"	"colorectal cancer, hereditary nonpolyposis, type 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fa28f74-c7c8-40f3-908f-63b74bea9d94-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4fa28f74-c7c8-40f3-908f-63b74bea9d94"	"2024-04-21"
"GENCC_000102-HGNC_7150-MONDO_0009556-HP_0000007-GENCC_100001"	"HGNC:7150"	"MLYCD"	"MONDO:0009556"	"malonic aciduria"	"MONDO:0009556"	"malonic aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7150"	"MLYCD"	"MONDO:0009556"	"malonic aciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70af8ffa-430b-4c69-bfa9-d6ba2f7b4f32-2018-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"70af8ffa-430b-4c69-bfa9-d6ba2f7b4f32"	"2024-04-21"
"GENCC_000102-HGNC_18871-MONDO_0009613-HP_0000007-GENCC_100001"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18871"	"MMAA"	"MONDO:0009613"	"methylmalonic aciduria, cblA type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b81bb9e-5f71-47bf-b187-5eef83d91d57-2022-07-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5b81bb9e-5f71-47bf-b187-5eef83d91d57"	"2024-04-21"
"GENCC_000102-HGNC_19331-MONDO_0009614-HP_0000007-GENCC_100001"	"HGNC:19331"	"MMAB"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19331"	"MMAB"	"MONDO:0009614"	"methylmalonic aciduria, cblB type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52b61ff5-afba-4ff7-adbc-51de6a837db7-2022-07-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"52b61ff5-afba-4ff7-adbc-51de6a837db7"	"2024-04-21"
"GENCC_000102-HGNC_24525-MONDO_0010184-HP_0000007-GENCC_100001"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24525"	"MMACHC"	"MONDO:0010184"	"methylmalonic aciduria and homocystinuria type cblC"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:43:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6feb4bda-539f-4592-acaf-26dc186e953a-2020-06-29T174303.503Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6feb4bda-539f-4592-acaf-26dc186e953a"	"2024-04-21"
"GENCC_000102-HGNC_25221-MONDO_0019220-HP_0000007-GENCC_100001"	"HGNC:25221"	"MMADHC"	"MONDO:0019220"	"inborn disorder of cobalamin metabolism and transport"	"MONDO:0019220"	"inborn disorder of cobalamin metabolism and transport"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25221"	"MMADHC"	"MONDO:0019220"	"inborn disorder of cobalamin metabolism and transport"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-12 18:27:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40ec59af-a143-4424-9218-7fd75deb6a61-2021-05-12T182739.747Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"40ec59af-a143-4424-9218-7fd75deb6a61"	"2024-04-21"
"GENCC_000102-HGNC_7154-MONDO_0014866-HP_0000007-GENCC_100001"	"HGNC:7154"	"MME"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7154"	"MME"	"MONDO:0014866"	"Charcot-Marie-Tooth disease axonal type 2T"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d426d95-70b5-4537-809f-9f2520fc39e9-2022-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6d426d95-70b5-4537-809f-9f2520fc39e9"	"2024-04-21"
"GENCC_000102-HGNC_7526-MONDO_0009612-HP_0000007-GENCC_100001"	"HGNC:7526"	"MMUT"	"MONDO:0009612"	"methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"	"MONDO:0009612"	"methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7526"	"MMUT"	"MONDO:0009612"	"methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c5301da-0dad-417a-8257-5b1c6155e8fa-2019-05-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3c5301da-0dad-417a-8257-5b1c6155e8fa"	"2024-04-21"
"GENCC_000102-HGNC_29636-MONDO_0016575-HP_0000007-GENCC_100005"	"HGNC:29636"	"MNS1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29636"	"MNS1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-09-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_255ba802-ece2-43c7-9089-6e54672b4f4a-2022-09-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"255ba802-ece2-43c7-9089-6e54672b4f4a"	"2024-04-21"
"GENCC_000102-HGNC_18234-MONDO_0011346-HP_0000007-GENCC_100001"	"HGNC:18234"	"MOCOS"	"MONDO:0011346"	"xanthinuria type II"	"MONDO:0011346"	"xanthinuria type II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18234"	"MOCOS"	"MONDO:0011346"	"xanthinuria type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04a1363e-0d51-4797-9358-0e48e362ea5f-2022-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"04a1363e-0d51-4797-9358-0e48e362ea5f"	"2024-04-21"
"GENCC_000102-HGNC_7190-MONDO_0009643-HP_0000007-GENCC_100001"	"HGNC:7190"	"MOCS1"	"MONDO:0009643"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"	"MONDO:0009643"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7190"	"MOCS1"	"MONDO:0009643"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c7c418c-3aea-415f-9953-c84526232963-2022-04-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1c7c418c-3aea-415f-9953-c84526232963"	"2024-04-21"
"GENCC_000102-HGNC_7193-MONDO_0009644-HP_0000007-GENCC_100001"	"HGNC:7193"	"MOCS2"	"MONDO:0009644"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"	"MONDO:0009644"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7193"	"MOCS2"	"MONDO:0009644"	"sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd8d7002-1f0a-4fa7-9311-9d63b31b0125-2022-12-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cd8d7002-1f0a-4fa7-9311-9d63b31b0125"	"2024-04-21"
"GENCC_000102-HGNC_24862-MONDO_0011629-HP_0000007-GENCC_100001"	"HGNC:24862"	"MOGS"	"MONDO:0011629"	"MOGS-congenital disorder of glycosylation"	"MONDO:0011629"	"MOGS-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24862"	"MOGS"	"MONDO:0011629"	"MOGS-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-20 13:07:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a628248-c2f9-4d31-b614-e082e3f83416-2021-07-20T130742.194Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5a628248-c2f9-4d31-b614-e082e3f83416"	"2024-04-21"
"GENCC_000102-HGNC_23573-MONDO_0009723-HP_0000006-GENCC_100004"	"HGNC:23573"	"MORC2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23573"	"MORC2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-14 14:29:52"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23358115-fe60-41c7-b01e-44d1cb8329b1-2021-06-14T142952.247Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"23358115-fe60-41c7-b01e-44d1cb8329b1"	"2024-04-21"
"GENCC_000102-HGNC_23573-MONDO_0014736-HP_0000006-GENCC_100001"	"HGNC:23573"	"MORC2"	"MONDO:0014736"	"Charcot-Marie-Tooth disease axonal type 2Z"	"MONDO:0014736"	"Charcot-Marie-Tooth disease axonal type 2Z"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23573"	"MORC2"	"MONDO:0014736"	"Charcot-Marie-Tooth disease axonal type 2Z"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3d5168d-b00c-475c-a696-d740675fbc84-2023-05-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e3d5168d-b00c-475c-a696-d740675fbc84"	"2024-04-21"
"GENCC_000102-HGNC_21606-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:21606"	"MPC1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21606"	"MPC1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-20 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de4dba62-51ef-4e0b-942a-a2175d3f9fb1-2023-11-20T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"de4dba62-51ef-4e0b-942a-a2175d3f9fb1"	"2024-04-21"
"GENCC_000102-HGNC_7216-MONDO_0011257-HP_0000007-GENCC_100001"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7216"	"MPI"	"MONDO:0011257"	"MPI-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6c880b8-c9fc-453b-8975-236a97047192-2023-12-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a6c880b8-c9fc-453b-8975-236a97047192"	"2024-04-21"
"GENCC_000102-HGNC_13937-MONDO_0044316-HP_0000007-GENCC_100001"	"HGNC:13937"	"MPIG6B"	"MONDO:0044316"	"thrombocytopenia, anemia, and myelofibrosis"	"MONDO:0044316"	"thrombocytopenia, anemia, and myelofibrosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13937"	"MPIG6B"	"MONDO:0044316"	"thrombocytopenia, anemia, and myelofibrosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03b93956-5abe-41f2-ba14-1e57952606b3-2020-10-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03b93956-5abe-41f2-ba14-1e57952606b3"	"2024-04-21"
"GENCC_000102-HGNC_7217-MONDO_0011173-HP_0000006-GENCC_100001"	"HGNC:7217"	"MPL"	"MONDO:0011173"	"thrombocythemia 2"	"MONDO:0011173"	"thrombocythemia 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7217"	"MPL"	"MONDO:0011173"	"thrombocythemia 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23b39955-2760-46aa-978b-d27d4a212567-2020-07-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"23b39955-2760-46aa-978b-d27d4a212567"	"2024-04-21"
"GENCC_000102-HGNC_7217-MONDO_0800452-HP_0000007-GENCC_100001"	"HGNC:7217"	"MPL"	"MONDO:0800452"	"congenital amegakaryocytic thrombocytopenia 1"	"MONDO:0800452"	"congenital amegakaryocytic thrombocytopenia 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7217"	"MPL"	"MONDO:0800452"	"congenital amegakaryocytic thrombocytopenia 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d97f51ea-0148-483b-a18e-e61ee2e30690-2020-07-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d97f51ea-0148-483b-a18e-e61ee2e30690"	"2024-04-21"
"GENCC_000102-HGNC_7223-MONDO_0009585-HP_0000007-GENCC_100008"	"HGNC:7223"	"MPST"	"MONDO:0009585"	"encephalopathy due to beta-mercaptolactate-cysteine disulfiduria"	"MONDO:0009585"	"encephalopathy due to beta-mercaptolactate-cysteine disulfiduria"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7223"	"MPST"	"MONDO:0009585"	"encephalopathy due to beta-mercaptolactate-cysteine disulfiduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2023-04-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc10dd44-961d-4925-b387-ed4569242eff-2023-04-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cc10dd44-961d-4925-b387-ed4569242eff"	"2024-04-21"
"GENCC_000102-HGNC_7224-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:7224"	"MPV17"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7224"	"MPV17"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-21 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc7c6e4d-1a22-4ab4-b1d5-8de6bcc3b961-2022-07-21T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fc7c6e4d-1a22-4ab4-b1d5-8de6bcc3b961"	"2024-04-21"
"GENCC_000102-HGNC_7225-MONDO_0015626-HP_0000006-GENCC_100001"	"HGNC:7225"	"MPZ"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7225"	"MPZ"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_11f638d2-d8d2-4fe4-ab79-acff5cf32a18-2020-08-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"11f638d2-d8d2-4fe4-ab79-acff5cf32a18"	"2024-04-21"
"GENCC_000102-HGNC_3496-MONDO_0019497-HP_0000007-GENCC_100002"	"HGNC:3496"	"MPZL2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3496"	"MPZL2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2021-03-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_046d28d7-60d8-4c7e-a901-37c86fa6a77e-2021-03-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"046d28d7-60d8-4c7e-a901-37c86fa6a77e"	"2024-04-21"
"GENCC_000102-HGNC_7227-MONDO_0018997-HP_0000006-GENCC_100003"	"HGNC:7227"	"MRAS"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7227"	"MRAS"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04ca29c1-6b44-474c-b54b-1c8be52de172-2022-12-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"04ca29c1-6b44-474c-b54b-1c8be52de172"	"2024-04-21"
"GENCC_000102-HGNC_7230-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:7230"	"MRE11"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7230"	"MRE11"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-03-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e720d1f7-62b3-4a0f-97de-e1144d0475a9-2023-03-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e720d1f7-62b3-4a0f-97de-e1144d0475a9"	"2024-04-21"
"GENCC_000102-HGNC_10379-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:10379"	"MRPL3"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10379"	"MRPL3"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-08-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2164ee6c-0956-4453-8d0a-afc21b691232-2022-08-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2164ee6c-0956-4453-8d0a-afc21b691232"	"2024-04-21"
"GENCC_000102-HGNC_14027-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:14027"	"MRPL39"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14027"	"MRPL39"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-01-29 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b112a15-0b02-4942-bd93-7cac3305f3b9-2024-01-29T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9b112a15-0b02-4942-bd93-7cac3305f3b9"	"2024-04-21"
"GENCC_000102-HGNC_16650-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:16650"	"MRPL44"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16650"	"MRPL44"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a5d4050-143c-42ed-b3b8-1742fc86bd28-2022-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4a5d4050-143c-42ed-b3b8-1742fc86bd28"	"2024-04-21"
"GENCC_000102-HGNC_14048-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:14048"	"MRPS16"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14048"	"MRPS16"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bc34eb8-8f60-4fad-892b-11929760cae6-2022-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1bc34eb8-8f60-4fad-892b-11929760cae6"	"2024-04-21"
"GENCC_000102-HGNC_14508-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:14508"	"MRPS22"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14508"	"MRPS22"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac32e0eb-0906-406f-9d1d-baca4e5096c3-2022-07-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac32e0eb-0906-406f-9d1d-baca4e5096c3"	"2024-04-21"
"GENCC_000102-HGNC_16618-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:16618"	"MRPS34"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16618"	"MRPS34"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-08-27 16:22:59"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41d20487-f150-41b6-947c-ce77e405e8de-2020-08-27T162259.700Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41d20487-f150-41b6-947c-ce77e405e8de"	"2024-04-21"
"GENCC_000102-HGNC_7315-MONDO_0013285-HP_0000007-GENCC_100004"	"HGNC:7315"	"MS4A1"	"MONDO:0013285"	"immunodeficiency, common variable, 5"	"MONDO:0013285"	"immunodeficiency, common variable, 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7315"	"MS4A1"	"MONDO:0013285"	"immunodeficiency, common variable, 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-03-02 18:57:14"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eba48c0f-53fa-48c9-8f4e-9892d095b515-2022-03-02T185714.677Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eba48c0f-53fa-48c9-8f4e-9892d095b515"	"2024-04-21"
"GENCC_000102-HGNC_7325-MONDO_0005835-HP_0000006-GENCC_100001"	"HGNC:7325"	"MSH2"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7325"	"MSH2"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f3acd9a-e2e5-498a-8974-399969ffa2d1-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0f3acd9a-e2e5-498a-8974-399969ffa2d1"	"2024-04-21"
"GENCC_000102-HGNC_7325-MONDO_0010159-HP_0000007-GENCC_100001"	"HGNC:7325"	"MSH2"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7325"	"MSH2"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-09 14:44:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ce2b2b9-9b04-4a47-b6fa-b85c60ba1c08-2018-10-09T144400.302Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7ce2b2b9-9b04-4a47-b6fa-b85c60ba1c08"	"2024-04-21"
"GENCC_000102-HGNC_7325-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:7325"	"MSH2"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7325"	"MSH2"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-03-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cb3ff3b-3e0e-42f2-85d5-3ffb1506a255-2023-03-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9cb3ff3b-3e0e-42f2-85d5-3ffb1506a255"	"2024-04-21"
"GENCC_000102-HGNC_7326-MONDO_0044300-HP_0000007-GENCC_100003"	"HGNC:7326"	"MSH3"	"MONDO:0044300"	"familial adenomatous polyposis 4"	"MONDO:0044300"	"familial adenomatous polyposis 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7326"	"MSH3"	"MONDO:0044300"	"familial adenomatous polyposis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-03-06 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec777aa-af6a-4cc6-ace1-b22e4b493457-2024-03-06T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ec777aa-af6a-4cc6-ace1-b22e4b493457"	"2024-04-21"
"GENCC_000102-HGNC_7329-MONDO_0010159-HP_0000007-GENCC_100001"	"HGNC:7329"	"MSH6"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7329"	"MSH6"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-09 14:57:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7d02927-ac93-4a43-a86d-01cd381f4e9f-2018-10-09T145726.378Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b7d02927-ac93-4a43-a86d-01cd381f4e9f"	"2024-04-21"
"GENCC_000102-HGNC_7329-MONDO_0005835-HP_0000006-GENCC_100001"	"HGNC:7329"	"MSH6"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7329"	"MSH6"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc6e042d-74ad-42fc-9638-7f53f8bc32f9-2023-07-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bc6e042d-74ad-42fc-9638-7f53f8bc32f9"	"2024-04-21"
"GENCC_000102-HGNC_7329-MONDO_0016419-HP_0000006-GENCC_100005"	"HGNC:7329"	"MSH6"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7329"	"MSH6"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3c3cce5-7d58-4800-a956-e83c092071de-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d3c3cce5-7d58-4800-a956-e83c092071de"	"2024-04-21"
"GENCC_000102-HGNC_7370-MONDO_0026730-HP_0001417-GENCC_100001"	"HGNC:7370"	"MSL3"	"MONDO:0026730"	"Basilicata-Akhtar syndrome"	"MONDO:0026730"	"Basilicata-Akhtar syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:7370"	"MSL3"	"MONDO:0026730"	"Basilicata-Akhtar syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f700593e-b7c1-4149-810d-7e71fbea61d0-2022-01-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f700593e-b7c1-4149-810d-7e71fbea61d0"	"2024-04-21"
"GENCC_000102-HGNC_7373-MONDO_0010514-HP_0001417-GENCC_100001"	"HGNC:7373"	"MSN"	"MONDO:0010514"	"combined immunodeficiency due to moesin deficiency"	"MONDO:0010514"	"combined immunodeficiency due to moesin deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:7373"	"MSN"	"MONDO:0010514"	"combined immunodeficiency due to moesin deficiency"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-19 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d65d1f9-be54-4e41-b8d7-c8a48e8c4146-2023-01-19T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d65d1f9-be54-4e41-b8d7-c8a48e8c4146"	"2024-04-21"
"GENCC_000102-HGNC_27375-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:27375"	"MSRB3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:27375"	"MSRB3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ea7c7e0-dc56-4484-b2b6-5e3899d04013-2021-11-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ea7c7e0-dc56-4484-b2b6-5e3899d04013"	"2024-04-21"
"GENCC_000102-HGNC_29678-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:29678"	"MSTO1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29678"	"MSTO1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10089a58-c9b4-497a-afb0-d249220eb2aa-2023-05-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10089a58-c9b4-497a-afb0-d249220eb2aa"	"2024-04-21"
"GENCC_000102-HGNC_7391-MONDO_0007129-HP_0000006-GENCC_100001"	"HGNC:7391"	"MSX1"	"MONDO:0007129"	"tooth agenesis, selective, 1"	"MONDO:0007129"	"tooth agenesis, selective, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7391"	"MSX1"	"MONDO:0007129"	"tooth agenesis, selective, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6624512d-c0c5-4620-9d36-47fa7f1fbee6-2024-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6624512d-c0c5-4620-9d36-47fa7f1fbee6"	"2024-04-21"
"GENCC_000102-HGNC_7392-MONDO_0018953-HP_0000006-GENCC_100001"	"HGNC:7392"	"MSX2"	"MONDO:0018953"	"parietal foramina"	"MONDO:0018953"	"parietal foramina"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7392"	"MSX2"	"MONDO:0018953"	"parietal foramina"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bb862dd-e6d2-4dc8-a7f3-3a03d58f9ade-2020-07-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2bb862dd-e6d2-4dc8-a7f3-3a03d58f9ade"	"2024-04-21"
"GENCC_000102-HGNC_7392-MONDO_0011481-HP_0000006-GENCC_100001"	"HGNC:7392"	"MSX2"	"MONDO:0011481"	"craniosynostosis 2"	"MONDO:0011481"	"craniosynostosis 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7392"	"MSX2"	"MONDO:0011481"	"craniosynostosis 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac8a9313-9ef2-4556-9a25-db7fa2ed99ed-2020-09-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac8a9313-9ef2-4556-9a25-db7fa2ed99ed"	"2024-04-21"
"GENCC_000102-HGNC_7414-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7414"	"MT-ATP6"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7414"	"MT-ATP6"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d7b0569-8dfe-40cf-a83b-44071430206f-2023-05-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d7b0569-8dfe-40cf-a83b-44071430206f"	"2024-04-21"
"GENCC_000102-HGNC_7414-MONDO_0009723-HP_0001427-GENCC_100001"	"HGNC:7414"	"MT-ATP6"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7414"	"MT-ATP6"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-28 14:53:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e492464b-cb98-4bf4-a12e-169b59576b04-2021-06-28T145350.161Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e492464b-cb98-4bf4-a12e-169b59576b04"	"2024-04-21"
"GENCC_000102-HGNC_7415-MONDO_0044970-HP_0001427-GENCC_100004"	"HGNC:7415"	"MT-ATP8"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7415"	"MT-ATP8"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dae079f2-ca8a-4994-a46b-56ac3d3094e6-2022-11-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dae079f2-ca8a-4994-a46b-56ac3d3094e6"	"2024-04-21"
"GENCC_000102-HGNC_7419-MONDO_0009723-HP_0001427-GENCC_100004"	"HGNC:7419"	"MT-CO1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7419"	"MT-CO1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-28 14:35:40"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_227922e2-1f4e-4bd5-9fc2-d48bac5d394f-2021-06-28T143540.269Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"227922e2-1f4e-4bd5-9fc2-d48bac5d394f"	"2024-04-21"
"GENCC_000102-HGNC_7419-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7419"	"MT-CO1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7419"	"MT-CO1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e87f1ffb-3657-4f88-92e0-20936346c207-2023-06-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e87f1ffb-3657-4f88-92e0-20936346c207"	"2024-04-21"
"GENCC_000102-HGNC_7421-MONDO_0009723-HP_0001427-GENCC_100004"	"HGNC:7421"	"MT-CO2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7421"	"MT-CO2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-28 14:41:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41d6a25c-4300-4e43-b0f8-1923ff3ddad8-2021-06-28T144136.451Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41d6a25c-4300-4e43-b0f8-1923ff3ddad8"	"2024-04-21"
"GENCC_000102-HGNC_7421-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7421"	"MT-CO2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7421"	"MT-CO2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8665d7c-6fca-44ba-9c37-d6e530ca263b-2023-07-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a8665d7c-6fca-44ba-9c37-d6e530ca263b"	"2024-04-21"
"GENCC_000102-HGNC_7422-MONDO_0009723-HP_0001427-GENCC_100004"	"HGNC:7422"	"MT-CO3"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7422"	"MT-CO3"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-28 14:47:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_996428ee-5af2-458b-afb7-6e29348c585a-2021-06-28T144716.059Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"996428ee-5af2-458b-afb7-6e29348c585a"	"2024-04-21"
"GENCC_000102-HGNC_7422-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7422"	"MT-CO3"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7422"	"MT-CO3"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d58759e1-bf55-44f2-9a97-839a9360d156-2023-03-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d58759e1-bf55-44f2-9a97-839a9360d156"	"2024-04-21"
"GENCC_000102-HGNC_7427-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7427"	"MT-CYB"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7427"	"MT-CYB"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ee50909-c576-4998-81bc-09980529cbb2-2024-03-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7ee50909-c576-4998-81bc-09980529cbb2"	"2024-04-21"
"GENCC_000102-HGNC_7455-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7455"	"MT-ND1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7455"	"MT-ND1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d55015a-dd90-479e-8e5b-4693e321c705-2023-04-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d55015a-dd90-479e-8e5b-4693e321c705"	"2024-04-21"
"GENCC_000102-HGNC_7455-MONDO_0009723-HP_0001427-GENCC_100001"	"HGNC:7455"	"MT-ND1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7455"	"MT-ND1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-14 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bb99c59-15c9-4e19-ba8b-df6cb800c32d-2021-04-14T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8bb99c59-15c9-4e19-ba8b-df6cb800c32d"	"2024-04-21"
"GENCC_000102-HGNC_7456-MONDO_0009723-HP_0001427-GENCC_100004"	"HGNC:7456"	"MT-ND2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7456"	"MT-ND2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-14 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80f1dcc9-aaf3-45f7-987a-4e0d83140913-2021-04-14T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"80f1dcc9-aaf3-45f7-987a-4e0d83140913"	"2024-04-21"
"GENCC_000102-HGNC_7456-MONDO_0044970-HP_0001427-GENCC_100003"	"HGNC:7456"	"MT-ND2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7456"	"MT-ND2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-05-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce38deed-d954-4e68-aed1-ede90e274a2c-2023-05-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ce38deed-d954-4e68-aed1-ede90e274a2c"	"2024-04-21"
"GENCC_000102-HGNC_7458-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7458"	"MT-ND3"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7458"	"MT-ND3"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06aaf3f7-69d3-415d-be22-257ed21abbc1-2023-03-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"06aaf3f7-69d3-415d-be22-257ed21abbc1"	"2024-04-21"
"GENCC_000102-HGNC_7458-MONDO_0009723-HP_0001427-GENCC_100001"	"HGNC:7458"	"MT-ND3"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7458"	"MT-ND3"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-24 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8af71e8b-b1f8-45d6-9dd7-e403a6f6080e-2021-03-24T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8af71e8b-b1f8-45d6-9dd7-e403a6f6080e"	"2024-04-21"
"GENCC_000102-HGNC_7459-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7459"	"MT-ND4"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7459"	"MT-ND4"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14ad3d43-a07b-4420-bc18-f10e71b5f974-2023-03-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14ad3d43-a07b-4420-bc18-f10e71b5f974"	"2024-04-21"
"GENCC_000102-HGNC_7459-MONDO_0009723-HP_0001427-GENCC_100001"	"HGNC:7459"	"MT-ND4"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7459"	"MT-ND4"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-17 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f05be3e5-352f-49a5-84af-8846d6839373-2021-05-17T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f05be3e5-352f-49a5-84af-8846d6839373"	"2024-04-21"
"GENCC_000102-HGNC_7460-MONDO_0044970-HP_0001427-GENCC_100004"	"HGNC:7460"	"MT-ND4L"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7460"	"MT-ND4L"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_315cca07-6aef-4749-abf2-c0eba7d6c1c5-2022-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"315cca07-6aef-4749-abf2-c0eba7d6c1c5"	"2024-04-21"
"GENCC_000102-HGNC_7461-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7461"	"MT-ND5"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7461"	"MT-ND5"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af2efc84-7d75-49a9-ae61-2ea59bf3ce5f-2023-05-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"af2efc84-7d75-49a9-ae61-2ea59bf3ce5f"	"2024-04-21"
"GENCC_000102-HGNC_7461-MONDO_0009723-HP_0001427-GENCC_100001"	"HGNC:7461"	"MT-ND5"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7461"	"MT-ND5"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-14 15:55:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e941d385-716f-4264-8f24-ffe3022579e2-2021-06-14T155537.548Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e941d385-716f-4264-8f24-ffe3022579e2"	"2024-04-21"
"GENCC_000102-HGNC_7462-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7462"	"MT-ND6"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7462"	"MT-ND6"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f581c96-e3cc-49bb-aa2b-98650efa4157-2023-05-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f581c96-e3cc-49bb-aa2b-98650efa4157"	"2024-04-21"
"GENCC_000102-HGNC_7462-MONDO_0009723-HP_0001427-GENCC_100001"	"HGNC:7462"	"MT-ND6"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7462"	"MT-ND6"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-17 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_836f975f-27f5-47c9-a58e-35089b6b39e6-2021-05-17T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"836f975f-27f5-47c9-a58e-35089b6b39e6"	"2024-04-21"
"GENCC_000102-HGNC_7470-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7470"	"MT-RNR1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7470"	"MT-RNR1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-04 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4408d791-630e-491d-b644-0ad40319a832-2024-03-04T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4408d791-630e-491d-b644-0ad40319a832"	"2024-04-21"
"GENCC_000102-HGNC_7471-MONDO_0044970-HP_0001427-GENCC_100004"	"HGNC:7471"	"MT-RNR2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7471"	"MT-RNR2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5cd88bf-4d80-4d6f-b479-cd4a3725b039-2022-12-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f5cd88bf-4d80-4d6f-b479-cd4a3725b039"	"2024-04-21"
"GENCC_000102-HGNC_7475-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7475"	"MT-TA"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7475"	"MT-TA"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_222b73fe-4a05-457f-bc36-f32dc4877056-2024-03-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"222b73fe-4a05-457f-bc36-f32dc4877056"	"2024-04-21"
"GENCC_000102-HGNC_7477-MONDO_0044970-HP_0001427-GENCC_100004"	"HGNC:7477"	"MT-TC"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7477"	"MT-TC"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3d92b0e-6753-4355-a982-2f9cf7cad8be-2023-03-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c3d92b0e-6753-4355-a982-2f9cf7cad8be"	"2024-04-21"
"GENCC_000102-HGNC_7478-MONDO_0044970-HP_0001427-GENCC_100003"	"HGNC:7478"	"MT-TD"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7478"	"MT-TD"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_620f9725-7a33-4b55-99bc-3d32d9e8ff63-2023-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"620f9725-7a33-4b55-99bc-3d32d9e8ff63"	"2024-04-21"
"GENCC_000102-HGNC_7479-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7479"	"MT-TE"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7479"	"MT-TE"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b560595b-ee5c-4b60-b63d-1e89a5e403b4-2023-03-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b560595b-ee5c-4b60-b63d-1e89a5e403b4"	"2024-04-21"
"GENCC_000102-HGNC_7481-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7481"	"MT-TF"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7481"	"MT-TF"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4b94030-f2dd-431d-9114-a7fd8b1e32a5-2023-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a4b94030-f2dd-431d-9114-a7fd8b1e32a5"	"2024-04-21"
"GENCC_000102-HGNC_7486-MONDO_0044970-HP_0001427-GENCC_100003"	"HGNC:7486"	"MT-TG"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7486"	"MT-TG"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e01ede3c-456b-432b-b1e0-27809dd1e976-2022-11-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e01ede3c-456b-432b-b1e0-27809dd1e976"	"2024-04-21"
"GENCC_000102-HGNC_7487-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7487"	"MT-TH"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7487"	"MT-TH"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_debb8afe-e379-465f-8b74-0241e1b14f8a-2022-11-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"debb8afe-e379-465f-8b74-0241e1b14f8a"	"2024-04-21"
"GENCC_000102-HGNC_7488-MONDO_0009723-HP_0001427-GENCC_100004"	"HGNC:7488"	"MT-TI"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7488"	"MT-TI"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-02-03 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69991755-b62f-42aa-bbe3-30ac10e4311d-2021-02-03T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"69991755-b62f-42aa-bbe3-30ac10e4311d"	"2024-04-21"
"GENCC_000102-HGNC_7488-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7488"	"MT-TI"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7488"	"MT-TI"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2025-06-05 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbdedc92-8d9d-4912-a4d1-69a91ea65ef0-2025-06-05T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bbdedc92-8d9d-4912-a4d1-69a91ea65ef0"	"2024-04-21"
"GENCC_000102-HGNC_7489-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7489"	"MT-TK"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7489"	"MT-TK"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d7a973c-7786-48a1-bf82-3764761739ba-2023-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d7a973c-7786-48a1-bf82-3764761739ba"	"2024-04-21"
"GENCC_000102-HGNC_7489-MONDO_0009723-HP_0001427-GENCC_100001"	"HGNC:7489"	"MT-TK"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7489"	"MT-TK"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-28 15:55:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f237644-83f5-412e-9bfa-01fbd280c15a-2021-06-28T155537.306Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3f237644-83f5-412e-9bfa-01fbd280c15a"	"2024-04-21"
"GENCC_000102-HGNC_7490-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7490"	"MT-TL1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7490"	"MT-TL1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_555b9573-762e-4c6a-904e-f2227c916bc4-2023-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"555b9573-762e-4c6a-904e-f2227c916bc4"	"2024-04-21"
"GENCC_000102-HGNC_7490-MONDO_0009723-HP_0001427-GENCC_100004"	"HGNC:7490"	"MT-TL1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7490"	"MT-TL1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-28 15:47:10"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efef782a-88db-470d-9687-23629c75e05a-2021-06-28T154710.419Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"efef782a-88db-470d-9687-23629c75e05a"	"2024-04-21"
"GENCC_000102-HGNC_7491-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7491"	"MT-TL2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7491"	"MT-TL2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-05 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6cd5832f-dd32-4217-bec4-93bd4b7b6618-2023-06-05T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6cd5832f-dd32-4217-bec4-93bd4b7b6618"	"2024-04-21"
"GENCC_000102-HGNC_7491-MONDO_0009723-HP_0001427-GENCC_100005"	"HGNC:7491"	"MT-TL2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7491"	"MT-TL2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-04-14 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cee9c77-e47a-4b2f-8029-b1da28799df6-2021-04-14T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8cee9c77-e47a-4b2f-8029-b1da28799df6"	"2024-04-21"
"GENCC_000102-HGNC_7492-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7492"	"MT-TM"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7492"	"MT-TM"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56195896-f357-403b-b7db-118314bcec94-2022-12-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"56195896-f357-403b-b7db-118314bcec94"	"2024-04-21"
"GENCC_000102-HGNC_7493-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7493"	"MT-TN"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7493"	"MT-TN"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4659b074-c4eb-4290-9716-f39a213e37cc-2022-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4659b074-c4eb-4290-9716-f39a213e37cc"	"2024-04-21"
"GENCC_000102-HGNC_7494-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7494"	"MT-TP"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7494"	"MT-TP"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60c99f15-3a4b-4d7f-be1c-5edde18a4396-2022-12-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"60c99f15-3a4b-4d7f-be1c-5edde18a4396"	"2024-04-21"
"GENCC_000102-HGNC_7495-MONDO_0044970-HP_0001427-GENCC_100004"	"HGNC:7495"	"MT-TQ"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7495"	"MT-TQ"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be8894e0-8d48-4f4a-86cd-66bc465cde70-2023-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"be8894e0-8d48-4f4a-86cd-66bc465cde70"	"2024-04-21"
"GENCC_000102-HGNC_7496-MONDO_0044970-HP_0001427-GENCC_100003"	"HGNC:7496"	"MT-TR"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7496"	"MT-TR"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-03-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ef40a42-d2c5-4770-a251-7e2c0b0ce96a-2024-03-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ef40a42-d2c5-4770-a251-7e2c0b0ce96a"	"2024-04-21"
"GENCC_000102-HGNC_7497-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7497"	"MT-TS1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7497"	"MT-TS1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6647b8f-3d8a-4a6f-b54d-383a33fc9828-2023-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d6647b8f-3d8a-4a6f-b54d-383a33fc9828"	"2024-04-21"
"GENCC_000102-HGNC_7498-MONDO_0044970-HP_0001427-GENCC_100003"	"HGNC:7498"	"MT-TS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7498"	"MT-TS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4af82e37-83b3-4c7a-9cbe-f2b587fcf809-2022-12-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4af82e37-83b3-4c7a-9cbe-f2b587fcf809"	"2024-04-21"
"GENCC_000102-HGNC_7499-MONDO_0044970-HP_0001427-GENCC_100003"	"HGNC:7499"	"MT-TT"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7499"	"MT-TT"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99e85f3e-3c1f-4265-8b70-0870e95d4c30-2023-04-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"99e85f3e-3c1f-4265-8b70-0870e95d4c30"	"2024-04-21"
"GENCC_000102-HGNC_7500-MONDO_0009723-HP_0001427-GENCC_100003"	"HGNC:7500"	"MT-TV"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7500"	"MT-TV"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-04-14 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42f2fc91-c26d-416c-8d93-448e4a52983b-2021-04-14T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"42f2fc91-c26d-416c-8d93-448e4a52983b"	"2024-04-21"
"GENCC_000102-HGNC_7500-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7500"	"MT-TV"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7500"	"MT-TV"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66a243e9-fa10-490c-9c85-9725a263e598-2023-04-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"66a243e9-fa10-490c-9c85-9725a263e598"	"2024-04-21"
"GENCC_000102-HGNC_7501-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7501"	"MT-TW"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7501"	"MT-TW"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03bdbd98-2ffd-4b0f-8d97-b1d89a4a2b61-2023-05-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03bdbd98-2ffd-4b0f-8d97-b1d89a4a2b61"	"2024-04-21"
"GENCC_000102-HGNC_7501-MONDO_0009723-HP_0001427-GENCC_100004"	"HGNC:7501"	"MT-TW"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7501"	"MT-TW"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-28 15:05:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dc54202-27f3-4bf4-883f-5273a49dcb70-2021-06-28T150550.120Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3dc54202-27f3-4bf4-883f-5273a49dcb70"	"2024-04-21"
"GENCC_000102-HGNC_7502-MONDO_0044970-HP_0001427-GENCC_100001"	"HGNC:7502"	"MT-TY"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"HGNC:7502"	"MT-TY"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001427"	"Mitochondrial"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d035d0c2-f0c9-4767-b833-99be610d3e46-2023-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d035d0c2-f0c9-4767-b833-99be610d3e46"	"2024-04-21"
"GENCC_000102-HGNC_7413-MONDO_0007205-HP_0000006-GENCC_100003"	"HGNC:7413"	"MTAP"	"MONDO:0007205"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"MONDO:0007205"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7413"	"MTAP"	"MONDO:0007205"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-15 23:29:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c2243ec-a10f-4aab-aaf9-99153d805455-2021-06-15T232951.915Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3c2243ec-a10f-4aab-aaf9-99153d805455"	"2024-04-21"
"GENCC_000102-HGNC_29666-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:29666"	"MTFMT"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29666"	"MTFMT"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-19 19:45:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e7a00ee-ef09-443f-9d66-03128e1fb225-2020-03-19T194517.723Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0e7a00ee-ef09-443f-9d66-03128e1fb225"	"2024-04-21"
"GENCC_000102-HGNC_7436-MONDO_0009353-HP_0000007-GENCC_100001"	"HGNC:7436"	"MTHFR"	"MONDO:0009353"	"homocystinuria due to methylene tetrahydrofolate reductase deficiency"	"MONDO:0009353"	"homocystinuria due to methylene tetrahydrofolate reductase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7436"	"MTHFR"	"MONDO:0009353"	"homocystinuria due to methylene tetrahydrofolate reductase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbfc5297-ed0d-4d7c-bca6-747114ed2b17-2019-06-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cbfc5297-ed0d-4d7c-bca6-747114ed2b17"	"2024-04-21"
"GENCC_000102-HGNC_7448-MONDO_0010683-HP_0001417-GENCC_100001"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked myotubular myopathy"	"MONDO:0010683"	"X-linked myotubular myopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:7448"	"MTM1"	"MONDO:0010683"	"X-linked myotubular myopathy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b60f008-871f-4c5f-aa46-099d09fb66df-2019-11-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2b60f008-871f-4c5f-aa46-099d09fb66df"	"2024-04-21"
"GENCC_000102-HGNC_7450-MONDO_0018776-HP_0000007-GENCC_100001"	"HGNC:7450"	"MTMR2"	"MONDO:0018776"	"demyelinating hereditary motor and sensory neuropathy"	"MONDO:0018776"	"demyelinating hereditary motor and sensory neuropathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7450"	"MTMR2"	"MONDO:0018776"	"demyelinating hereditary motor and sensory neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44a837e2-ae06-4e4d-b7cf-ae2a3009b47d-2020-02-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"44a837e2-ae06-4e4d-b7cf-ae2a3009b47d"	"2024-04-21"
"GENCC_000102-HGNC_19261-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:19261"	"MTO1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19261"	"MTO1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08fff88b-cbbd-46f3-bf35-f7b7a348ab54-2024-03-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"08fff88b-cbbd-46f3-bf35-f7b7a348ab54"	"2024-04-21"
"GENCC_000102-HGNC_3942-MONDO_0100283-HP_0000006-GENCC_100001"	"HGNC:3942"	"MTOR"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:3942"	"MTOR"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-29 21:32:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92ce0145-031d-41c4-8b74-0f9411629b64-2021-07-29T213256.506Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"92ce0145-031d-41c4-8b74-0f9411629b64"	"2024-04-21"
"GENCC_000102-HGNC_25532-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:25532"	"MTPAP"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25532"	"MTPAP"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffdfbc2d-29c5-4077-a871-940abdb27cb7-2022-08-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ffdfbc2d-29c5-4077-a871-940abdb27cb7"	"2024-04-21"
"GENCC_000102-HGNC_7468-MONDO_0009609-HP_0000007-GENCC_100001"	"HGNC:7468"	"MTR"	"MONDO:0009609"	"methylcobalamin deficiency type cblG"	"MONDO:0009609"	"methylcobalamin deficiency type cblG"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7468"	"MTR"	"MONDO:0009609"	"methylcobalamin deficiency type cblG"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1572b7da-1736-4a44-9420-d9734d53f950-2021-07-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1572b7da-1736-4a44-9420-d9734d53f950"	"2024-04-21"
"GENCC_000102-HGNC_26784-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:26784"	"MTRFR"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26784"	"MTRFR"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-01 17:45:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78f97463-d8b2-411a-9292-1908646dac77-2021-04-01T174500.572Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"78f97463-d8b2-411a-9292-1908646dac77"	"2024-04-21"
"GENCC_000102-HGNC_7473-MONDO_0009354-HP_0000007-GENCC_100001"	"HGNC:7473"	"MTRR"	"MONDO:0009354"	"methylcobalamin deficiency type cblE"	"MONDO:0009354"	"methylcobalamin deficiency type cblE"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7473"	"MTRR"	"MONDO:0009354"	"methylcobalamin deficiency type cblE"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_905575cf-cb80-4038-b82b-1de3ae1c469d-2021-07-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"905575cf-cb80-4038-b82b-1de3ae1c469d"	"2024-04-21"
"GENCC_000102-HGNC_7508-MONDO_0020726-HP_0000006-GENCC_100001"	"HGNC:7508"	"MUC1"	"MONDO:0020726"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"MONDO:0020726"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7508"	"MUC1"	"MONDO:0020726"	"tubulointerstitial kidney disease, autosomal dominant, 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_effa2b38-35c6-4071-b0d1-ce6970bb6ec1-2021-01-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"effa2b38-35c6-4071-b0d1-ce6970bb6ec1"	"2024-04-21"
"GENCC_000102-HGNC_7527-MONDO_0016248-HP_0000007-GENCC_100005"	"HGNC:7527"	"MUTYH"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7527"	"MUTYH"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2842036e-4a06-4d05-bce0-846f0f3c1678-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2842036e-4a06-4d05-bce0-846f0f3c1678"	"2024-04-21"
"GENCC_000102-HGNC_7527-MONDO_0016248-HP_0000006-GENCC_100005"	"HGNC:7527"	"MUTYH"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7527"	"MUTYH"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c329a2e-94fd-4719-a47b-a71cc9b39eec-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2c329a2e-94fd-4719-a47b-a71cc9b39eec"	"2024-04-21"
"GENCC_000102-HGNC_7527-MONDO_0012041-HP_0000007-GENCC_100001"	"HGNC:7527"	"MUTYH"	"MONDO:0012041"	"familial adenomatous polyposis 2"	"MONDO:0012041"	"familial adenomatous polyposis 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7527"	"MUTYH"	"MONDO:0012041"	"familial adenomatous polyposis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4330fde4-0116-4781-a5ac-40c387a0b41f-2022-06-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4330fde4-0116-4781-a5ac-40c387a0b41f"	"2024-04-21"
"GENCC_000102-HGNC_7527-MONDO_0016419-HP_0000007-GENCC_100005"	"HGNC:7527"	"MUTYH"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7527"	"MUTYH"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73e67e8c-0d12-44b1-a0d7-9fcc459b6773-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"73e67e8c-0d12-44b1-a0d7-9fcc459b6773"	"2024-04-21"
"GENCC_000102-HGNC_7527-MONDO_0005575-HP_0000006-GENCC_100005"	"HGNC:7527"	"MUTYH"	"MONDO:0005575"	"colorectal cancer"	"MONDO:0005575"	"colorectal cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7527"	"MUTYH"	"MONDO:0005575"	"colorectal cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-03-24 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b646b303-fb30-427c-9590-242a131624bf-2023-03-24T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b646b303-fb30-427c-9590-242a131624bf"	"2024-04-21"
"GENCC_000102-HGNC_7527-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:7527"	"MUTYH"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7527"	"MUTYH"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b818b8fc-7453-46be-8636-08644fd7a1d4-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b818b8fc-7453-46be-8636-08644fd7a1d4"	"2024-04-21"
"GENCC_000102-HGNC_7551-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:7551"	"MYBPC3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7551"	"MYBPC3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-08-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0639d989-8415-425c-ab89-e8a3a0b6ea49-2019-08-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0639d989-8415-425c-ab89-e8a3a0b6ea49"	"2024-04-21"
"GENCC_000102-HGNC_7551-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:7551"	"MYBPC3"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7551"	"MYBPC3"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_652d0370-9574-450c-b7c4-eec86ade9046-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"652d0370-9574-450c-b7c4-eec86ade9046"	"2024-04-21"
"GENCC_000102-HGNC_7551-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:7551"	"MYBPC3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7551"	"MYBPC3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e65896e-33f5-439d-8749-aba08a539dd0-2021-10-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7e65896e-33f5-439d-8749-aba08a539dd0"	"2024-04-21"
"GENCC_000102-HGNC_7569-MONDO_0019625-HP_0000006-GENCC_100001"	"HGNC:7569"	"MYH11"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7569"	"MYH11"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-07-03 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8252"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8252"	"2024-04-21"
"GENCC_000102-HGNC_23212-MONDO_0019497-HP_0000006-GENCC_100003"	"HGNC:23212"	"MYH14"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23212"	"MYH14"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-08-31 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_007697a5-2f83-40d0-b2ea-914e458a1452-2020-08-31T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"007697a5-2f83-40d0-b2ea-914e458a1452"	"2024-04-21"
"GENCC_000102-HGNC_7572-MONDO_0011577-HP_0032113-GENCC_100001"	"HGNC:7572"	"MYH2"	"MONDO:0011577"	"myopathy, proximal, and ophthalmoplegia"	"MONDO:0011577"	"myopathy, proximal, and ophthalmoplegia"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:7572"	"MYH2"	"MONDO:0011577"	"myopathy, proximal, and ophthalmoplegia"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72e37c65-570c-4d1c-b749-61d8981a6f21-2020-03-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"72e37c65-570c-4d1c-b749-61d8981a6f21"	"2024-04-21"
"GENCC_000102-HGNC_7576-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:7576"	"MYH6"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7576"	"MYH6"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-11-01 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10074"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10074"	"2024-04-21"
"GENCC_000102-HGNC_7576-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:7576"	"MYH6"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7576"	"MYH6"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d55ac7b-e9d8-4a97-bb20-92beeffaed96-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6d55ac7b-e9d8-4a97-bb20-92beeffaed96"	"2024-04-21"
"GENCC_000102-HGNC_7577-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:7577"	"MYH7"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7577"	"MYH7"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-08-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0265f091-a67d-4521-b6bd-5a110bd5356f-2019-08-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0265f091-a67d-4521-b6bd-5a110bd5356f"	"2024-04-21"
"GENCC_000102-HGNC_7577-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:7577"	"MYH7"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7577"	"MYH7"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31325c90-05cb-4db0-9372-e4f705cd5c82-2023-07-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"31325c90-05cb-4db0-9372-e4f705cd5c82"	"2024-04-21"
"GENCC_000102-HGNC_7577-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:7577"	"MYH7"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7577"	"MYH7"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ec27d4f-70ea-4c6a-ad67-d6260ecadcde-2020-11-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4ec27d4f-70ea-4c6a-ad67-d6260ecadcde"	"2024-04-21"
"GENCC_000102-HGNC_7577-MONDO_0008050-HP_0000006-GENCC_100001"	"HGNC:7577"	"MYH7"	"MONDO:0008050"	"MYH7-related skeletal myopathy"	"MONDO:0008050"	"MYH7-related skeletal myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7577"	"MYH7"	"MONDO:0008050"	"MYH7-related skeletal myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8974721a-f333-4fb7-b8b7-043233d3d100-2021-05-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8974721a-f333-4fb7-b8b7-043233d3d100"	"2024-04-21"
"GENCC_000102-HGNC_7577-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:7577"	"MYH7"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7577"	"MYH7"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-02-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9da50d1-a17c-4396-a6e6-632077b277b2-2024-02-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e9da50d1-a17c-4396-a6e6-632077b277b2"	"2024-04-21"
"GENCC_000102-HGNC_7579-MONDO_0015912-HP_0000006-GENCC_100001"	"HGNC:7579"	"MYH9"	"MONDO:0015912"	"macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	"MONDO:0015912"	"macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7579"	"MYH9"	"MONDO:0015912"	"macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-20 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6801442-c490-44a0-9a60-84ab5b20f7ac-2018-02-20T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d6801442-c490-44a0-9a60-84ab5b20f7ac"	"2024-04-21"
"GENCC_000102-HGNC_7582-MONDO_0019952-HP_0000007-GENCC_100004"	"HGNC:7582"	"MYL1"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7582"	"MYL1"	"MONDO:0019952"	"congenital myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-04-13 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c69fb71-4553-473e-94b7-a8c34af84739-2020-04-13T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1c69fb71-4553-473e-94b7-a8c34af84739"	"2024-04-21"
"GENCC_000102-HGNC_7583-MONDO_0012112-HP_0000006-GENCC_100001"	"HGNC:7583"	"MYL2"	"MONDO:0012112"	"hypertrophic cardiomyopathy 10"	"MONDO:0012112"	"hypertrophic cardiomyopathy 10"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7583"	"MYL2"	"MONDO:0012112"	"hypertrophic cardiomyopathy 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8768"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8768"	"2024-04-21"
"GENCC_000102-HGNC_7583-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:7583"	"MYL2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7583"	"MYL2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-13 15:49:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b25ff6c-3ede-46a3-a637-3eab7aa18569-2021-07-13T154913.625Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7b25ff6c-3ede-46a3-a637-3eab7aa18569"	"2024-04-21"
"GENCC_000102-HGNC_7583-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:7583"	"MYL2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7583"	"MYL2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8405609b-1664-4849-848e-bec138350c92-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8405609b-1664-4849-848e-bec138350c92"	"2024-04-21"
"GENCC_000102-HGNC_7583-MONDO_0016587-HP_0000006-GENCC_100008"	"HGNC:7583"	"MYL2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7583"	"MYL2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2019-05-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1db17cf-199d-4bd7-9673-e8f06219fc26-2019-05-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b1db17cf-199d-4bd7-9673-e8f06219fc26"	"2024-04-21"
"GENCC_000102-HGNC_7584-MONDO_0005021-HP_0000006-GENCC_100005"	"HGNC:7584"	"MYL3"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7584"	"MYL3"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6fdf5074-f853-473c-bd04-2c95c172b98a-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6fdf5074-f853-473c-bd04-2c95c172b98a"	"2024-04-21"
"GENCC_000102-HGNC_7584-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:7584"	"MYL3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7584"	"MYL3"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1d5e9bf-ca57-445a-a432-27fe221484bf-2019-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b1d5e9bf-ca57-445a-a432-27fe221484bf"	"2024-04-21"
"GENCC_000102-HGNC_7584-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:7584"	"MYL3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7584"	"MYL3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-07 14:50:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74b9d56-4f2a-4479-8913-1d96ddc28592-2021-06-07T145050.605Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d74b9d56-4f2a-4479-8913-1d96ddc28592"	"2024-04-21"
"GENCC_000102-HGNC_7590-MONDO_0019625-HP_0000006-GENCC_100002"	"HGNC:7590"	"MYLK"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7590"	"MYLK"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2016-12-18 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8257"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8257"	"2024-04-21"
"GENCC_000102-HGNC_16243-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:16243"	"MYLK2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16243"	"MYLK2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f0f41e3-7b5b-477c-b45d-598b5f8f3df0-2023-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6f0f41e3-7b5b-477c-b45d-598b5f8f3df0"	"2024-04-21"
"GENCC_000102-HGNC_33778-MONDO_0009700-HP_0000007-GENCC_100001"	"HGNC:33778"	"MYMK"	"MONDO:0009700"	"Carey-Fineman-Ziter syndrome"	"MONDO:0009700"	"Carey-Fineman-Ziter syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:33778"	"MYMK"	"MONDO:0009700"	"obsolete Carey-Fineman-Ziter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-08 04:00:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_570cb879-d299-41b0-87ba-406bf9567266-2022-04-08T040057.342Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"570cb879-d299-41b0-87ba-406bf9567266"	"2024-04-21"
"GENCC_000102-HGNC_7594-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:7594"	"MYO15A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7594"	"MYO15A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf0898e-5e63-4327-9341-fdf26490beee-2017-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2cf0898e-5e63-4327-9341-fdf26490beee"	"2024-04-21"
"GENCC_000102-HGNC_18150-MONDO_0014689-HP_0000007-GENCC_100003"	"HGNC:18150"	"MYO18B"	"MONDO:0014689"	"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	"MONDO:0014689"	"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18150"	"MYO18B"	"MONDO:0014689"	"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00998e50-dd3f-4bfa-8500-34d34980d5c8-2021-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"00998e50-dd3f-4bfa-8500-34d34980d5c8"	"2024-04-21"
"GENCC_000102-HGNC_7595-MONDO_0019497-HP_0000006-GENCC_100006"	"HGNC:7595"	"MYO1A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7595"	"MYO1A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2018-01-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dcc24f7-4cf7-413b-a956-16ad58bcbd36-2018-01-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3dcc24f7-4cf7-413b-a956-16ad58bcbd36"	"2024-04-21"
"GENCC_000102-HGNC_7597-MONDO_0019587-HP_0000006-GENCC_100005"	"HGNC:7597"	"MYO1C"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7597"	"MYO1C"	"MONDO:0019587"	"autosomal dominant nonsyndromic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f27e3d88-0a3d-44f8-bbbc-1f668e596541-2018-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f27e3d88-0a3d-44f8-bbbc-1f668e596541"	"2024-04-21"
"GENCC_000102-HGNC_7600-MONDO_0019497-HP_0000006-GENCC_100005"	"HGNC:7600"	"MYO1F"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7600"	"MYO1F"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c422abbd-4f16-4da0-8569-d5d7138be488-2017-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c422abbd-4f16-4da0-8569-d5d7138be488"	"2024-04-21"
"GENCC_000102-HGNC_7601-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:7601"	"MYO3A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7601"	"MYO3A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa3d7b-73a2-43a3-8f13-7dac3fd27737-2023-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a8fa3d7b-73a2-43a3-8f13-7dac3fd27737"	"2024-04-21"
"GENCC_000102-HGNC_7602-MONDO_0008962-HP_0000007-GENCC_100001"	"HGNC:7602"	"MYO5A"	"MONDO:0008962"	"Griscelli syndrome type 1"	"MONDO:0008962"	"Griscelli syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7602"	"MYO5A"	"MONDO:0008962"	"Griscelli syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 14:49:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_792cf7b2-5ca7-4d85-95a5-a43eaa52b180-2021-07-27T144901.941Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"792cf7b2-5ca7-4d85-95a5-a43eaa52b180"	"2024-04-21"
"GENCC_000102-HGNC_7605-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:7605"	"MYO6"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7605"	"MYO6"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50d408fe-e298-4683-985c-57a37b30e273-2018-02-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"50d408fe-e298-4683-985c-57a37b30e273"	"2024-04-21"
"GENCC_000102-HGNC_7606-MONDO_0010168-HP_0000007-GENCC_100001"	"HGNC:7606"	"MYO7A"	"MONDO:0010168"	"Usher syndrome type 1"	"MONDO:0010168"	"Usher syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7606"	"MYO7A"	"MONDO:0010168"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e897a2f-d4cf-4e13-85d8-f37405a09b18-2018-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1e897a2f-d4cf-4e13-85d8-f37405a09b18"	"2024-04-21"
"GENCC_000102-HGNC_7606-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:7606"	"MYO7A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7606"	"MYO7A"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-03-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_598b33f0-cdad-4290-b6eb-f9c2304c7bb6-2018-03-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"598b33f0-cdad-4290-b6eb-f9c2304c7bb6"	"2024-04-21"
"GENCC_000102-HGNC_7608-MONDO_0015225-HP_0000007-GENCC_100004"	"HGNC:7608"	"MYO9A"	"MONDO:0015225"	"arthrogryposis syndrome"	"MONDO:0015225"	"arthrogryposis syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7608"	"MYO9A"	"MONDO:0015225"	"arthrogryposis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-11-24 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5465"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5465"	"2024-04-21"
"GENCC_000102-HGNC_7610-MONDO_0005338-HP_0000006-GENCC_100001"	"HGNC:7610"	"MYOC"	"MONDO:0005338"	"open-angle glaucoma"	"MONDO:0005338"	"open-angle glaucoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7610"	"MYOC"	"MONDO:0005338"	"open-angle glaucoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe5896cf-ec59-431e-bf95-02de61729269-2022-02-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fe5896cf-ec59-431e-bf95-02de61729269"	"2024-04-21"
"GENCC_000102-HGNC_7613-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:7613"	"MYOM1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7613"	"MYOM1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-02-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ff00fbf-6b20-49cd-8af8-0f6404240db5-2023-02-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8ff00fbf-6b20-49cd-8af8-0f6404240db5"	"2024-04-21"
"GENCC_000102-HGNC_1330-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:1330"	"MYOZ2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1330"	"MYOZ2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74395ba-66ee-43c6-8d3c-c353bd8e5e82-2022-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d74395ba-66ee-43c6-8d3c-c353bd8e5e82"	"2024-04-21"
"GENCC_000102-HGNC_23246-MONDO_0015023-HP_0000007-GENCC_100001"	"HGNC:23246"	"MYPN"	"MONDO:0015023"	"MYPN-related myopathy"	"MONDO:0015023"	"MYPN-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23246"	"MYPN"	"MONDO:0015023"	"MYPN-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-17 19:46:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6aeb67cc-c960-4511-a708-b0acadb34588-2020-06-17T194636.472Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6aeb67cc-c960-4511-a708-b0acadb34588"	"2024-04-21"
"GENCC_000102-HGNC_23246-MONDO_0005045-HP_0000006-GENCC_100005"	"HGNC:23246"	"MYPN"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23246"	"MYPN"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-06-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d992d892-856b-4f25-bab1-997f6493018c-2023-06-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d992d892-856b-4f25-bab1-997f6493018c"	"2024-04-21"
"GENCC_000102-HGNC_23246-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:23246"	"MYPN"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23246"	"MYPN"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffd924ad-55ce-4b05-8a91-584ef49b4e80-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ffd924ad-55ce-4b05-8a91-584ef49b4e80"	"2024-04-21"
"GENCC_000102-HGNC_7623-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:7623"	"MYT1L"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7623"	"MYT1L"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32897f25-e36a-4ec8-9401-0374a95e06a5-2020-08-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"32897f25-e36a-4ec8-9401-0374a95e06a5"	"2024-04-21"
"GENCC_000102-HGNC_18704-MONDO_0100124-HP_0001417-GENCC_100001"	"HGNC:18704"	"NAA10"	"MONDO:0100124"	"NAA10-related syndrome"	"MONDO:0100124"	"NAA10-related syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:18704"	"NAA10"	"MONDO:0100124"	"NAA10-related syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-02 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcdd3d02-82f3-4ea3-a2b0-8ac2d4c40b1b-2020-09-02T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fcdd3d02-82f3-4ea3-a2b0-8ac2d4c40b1b"	"2024-04-21"
"GENCC_000102-HGNC_30782-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:30782"	"NAA15"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30782"	"NAA15"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9732e0c-1306-4fb5-b1b3-873258903e75-2022-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f9732e0c-1306-4fb5-b1b3-873258903e75"	"2024-04-21"
"GENCC_000102-HGNC_20967-MONDO_0800475-HP_0000006-GENCC_100001"	"HGNC:20967"	"NACC1"	"MONDO:0800475"	"NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability"	"MONDO:0800475"	"NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20967"	"NACC1"	"MONDO:0800475"	"NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd05706d-fd13-4f5e-9063-f49d7bbefd97-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bd05706d-fd13-4f5e-9063-f49d7bbefd97"	"2024-04-21"
"GENCC_000102-HGNC_26404-MONDO_0014464-HP_0000007-GENCC_100003"	"HGNC:26404"	"NADK2"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26404"	"NADK2"	"MONDO:0014464"	"progressive encephalopathy with leukodystrophy due to DECR deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-12-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_285bdfcd-10c2-48f9-9be9-d77894b26f19-2020-12-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"285bdfcd-10c2-48f9-9be9-d77894b26f19"	"2024-04-21"
"GENCC_000102-HGNC_7631-MONDO_0017779-HP_0000007-GENCC_100001"	"HGNC:7631"	"NAGA"	"MONDO:0017779"	"alpha-N-acetylgalactosaminidase deficiency"	"MONDO:0017779"	"alpha-N-acetylgalactosaminidase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7631"	"NAGA"	"MONDO:0017779"	"alpha-N-acetylgalactosaminidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94962878-05e3-4cc0-a6d7-e9cd86f49b1d-2022-09-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"94962878-05e3-4cc0-a6d7-e9cd86f49b1d"	"2024-04-21"
"GENCC_000102-HGNC_7632-MONDO_0009656-HP_0000007-GENCC_100001"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7632"	"NAGLU"	"MONDO:0009656"	"mucopolysaccharidosis type 3B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ee5629a-f6c2-4187-a802-d570f7180478-2022-08-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7ee5629a-f6c2-4187-a802-d570f7180478"	"2024-04-21"
"GENCC_000102-HGNC_17996-MONDO_0009377-HP_0000007-GENCC_100001"	"HGNC:17996"	"NAGS"	"MONDO:0009377"	"hyperammonemia due to N-acetylglutamate synthase deficiency"	"MONDO:0009377"	"hyperammonemia due to N-acetylglutamate synthase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17996"	"NAGS"	"MONDO:0009377"	"hyperammonemia due to N-acetylglutamate synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33dcead1-e3d9-4427-98fd-05a655c8c213-2019-07-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"33dcead1-e3d9-4427-98fd-05a655c8c213"	"2024-04-21"
"GENCC_000102-HGNC_7643-MONDO_0030837-HP_0000006-GENCC_100003"	"HGNC:7643"	"NARS1"	"MONDO:0030837"	"neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities"	"MONDO:0030837"	"neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7643"	"NARS1"	"MONDO:0030837"	"neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-03-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42f31685-bea9-4543-9aef-ed80859be363-2024-03-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"42f31685-bea9-4543-9aef-ed80859be363"	"2024-04-21"
"GENCC_000102-HGNC_7643-MONDO_0100348-HP_0000007-GENCC_100003"	"HGNC:7643"	"NARS1"	"MONDO:0100348"	"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"	"MONDO:0100348"	"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7643"	"NARS1"	"MONDO:0100348"	"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-03-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c46ba676-3297-4e2c-a88f-bc479c32de60-2024-03-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c46ba676-3297-4e2c-a88f-bc479c32de60"	"2024-04-21"
"GENCC_000102-HGNC_26274-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:26274"	"NARS2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26274"	"NARS2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-12-19 19:07:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8874861d-9d28-440d-a751-54c22df0d4ad-2019-12-19T190722.572Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8874861d-9d28-440d-a751-54c22df0d4ad"	"2024-04-21"
"GENCC_000102-HGNC_26274-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:26274"	"NARS2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26274"	"NARS2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9db16e79-4c14-437f-9723-749f99053d5c-2021-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9db16e79-4c14-437f-9723-749f99053d5c"	"2024-04-21"
"GENCC_000102-HGNC_25576-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:25576"	"NAXD"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25576"	"NAXD"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb15469f-f6a5-4f4e-b434-267c88c04fe3-2024-02-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eb15469f-f6a5-4f4e-b434-267c88c04fe3"	"2024-04-21"
"GENCC_000102-HGNC_18453-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:18453"	"NAXE"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18453"	"NAXE"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-04-09 14:21:30"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a062b287-a561-4c3e-942a-3379dee307c8-2021-04-09T142130.880Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a062b287-a561-4c3e-942a-3379dee307c8"	"2024-04-21"
"GENCC_000102-HGNC_7648-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:7648"	"NBEA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7648"	"NBEA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40357db-6cc2-4240-8771-1206cd27298a-2020-12-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f40357db-6cc2-4240-8771-1206cd27298a"	"2024-04-21"
"GENCC_000102-HGNC_31928-MONDO_0007686-HP_0000007-GENCC_100001"	"HGNC:31928"	"NBEAL2"	"MONDO:0007686"	"gray platelet syndrome"	"MONDO:0007686"	"gray platelet syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:31928"	"NBEAL2"	"MONDO:0007686"	"gray platelet syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae8bd4d6-8810-423b-83e0-98667f06426d-2019-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ae8bd4d6-8810-423b-83e0-98667f06426d"	"2024-04-21"
"GENCC_000102-HGNC_7652-MONDO_0009623-HP_0000007-GENCC_100001"	"HGNC:7652"	"NBN"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7652"	"NBN"	"MONDO:0009623"	"Nijmegen breakage syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de6fa1fe-a86e-4f0d-8da8-7690debe9aec-2022-06-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"de6fa1fe-a86e-4f0d-8da8-7690debe9aec"	"2024-04-21"
"GENCC_000102-HGNC_7652-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:7652"	"NBN"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7652"	"NBN"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-03-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc101ed8-f6ae-49b8-8850-384da62eb9b9-2023-03-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fc101ed8-f6ae-49b8-8850-384da62eb9b9"	"2024-04-21"
"GENCC_000102-HGNC_21904-MONDO_0032764-HP_0000007-GENCC_100004"	"HGNC:21904"	"NCAPG2"	"MONDO:0032764"	"Khan-Khan-Katsanis syndrome"	"MONDO:0032764"	"Khan-Khan-Katsanis syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21904"	"NCAPG2"	"MONDO:0032764"	"Khan-Khan-Katsanis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47881134-f959-48b9-a66c-25bb1456e5a8-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"47881134-f959-48b9-a66c-25bb1456e5a8"	"2024-04-21"
"GENCC_000102-HGNC_7666-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:7666"	"NCKAP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7666"	"NCKAP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-06 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd76936d-edb5-4c9b-9727-eb8e568f3ed2-2023-12-06T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bd76936d-edb5-4c9b-9727-eb8e568f3ed2"	"2024-04-21"
"GENCC_000102-HGNC_7678-MONDO_0010691-HP_0001417-GENCC_100001"	"HGNC:7678"	"NDP"	"MONDO:0010691"	"Norrie disease"	"MONDO:0010691"	"Norrie disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:7678"	"NDP"	"MONDO:0010691"	"Norrie disease"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-03-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_335ce5aa-7f87-4b91-a447-928399f40f11-2018-03-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"335ce5aa-7f87-4b91-a447-928399f40f11"	"2024-04-21"
"GENCC_000102-HGNC_7683-MONDO_0009723-HP_0001417-GENCC_100003"	"HGNC:7683"	"NDUFA1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:7683"	"NDUFA1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-05-20 18:48:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_497170a6-a042-46cb-9809-3c3094fcd05e-2019-05-20T184847.372Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"497170a6-a042-46cb-9809-3c3094fcd05e"	"2024-04-21"
"GENCC_000102-HGNC_7684-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:7684"	"NDUFA10"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7684"	"NDUFA10"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-11-06 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1abd1440-686c-4bc9-91fb-59f7191891dd-2023-11-06T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1abd1440-686c-4bc9-91fb-59f7191891dd"	"2024-04-21"
"GENCC_000102-HGNC_7684-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:7684"	"NDUFA10"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7684"	"NDUFA10"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-11-25 16:20:49"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e40eec3c-0ce0-442e-9058-6bf4d90d6dc3-2019-11-25T162049.949Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e40eec3c-0ce0-442e-9058-6bf4d90d6dc3"	"2024-04-21"
"GENCC_000102-HGNC_20371-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:20371"	"NDUFA11"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20371"	"NDUFA11"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-02-17 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_210108ec-da38-4a32-80b6-8d88f4d22677-2022-02-17T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"210108ec-da38-4a32-80b6-8d88f4d22677"	"2024-04-21"
"GENCC_000102-HGNC_23987-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:23987"	"NDUFA12"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23987"	"NDUFA12"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-11-25 16:08:15"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81f38f43-5e0c-4cb8-9be8-091f2c8a2c71-2019-11-25T160815.348Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"81f38f43-5e0c-4cb8-9be8-091f2c8a2c71"	"2024-04-21"
"GENCC_000102-HGNC_17194-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:17194"	"NDUFA13"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17194"	"NDUFA13"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-21 00:54:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bc56951-c454-4e79-95f3-7ffda20482b7-2021-01-21T005411.435Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0bc56951-c454-4e79-95f3-7ffda20482b7"	"2024-04-21"
"GENCC_000102-HGNC_7685-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:7685"	"NDUFA2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7685"	"NDUFA2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-05-20 19:06:23"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f40eb04-1cc3-477c-ab0a-c8162958fd4f-2019-05-20T190623.871Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3f40eb04-1cc3-477c-ab0a-c8162958fd4f"	"2024-04-21"
"GENCC_000102-HGNC_7687-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:7687"	"NDUFA4"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7687"	"NDUFA4"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-01-14 21:44:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2854d105-0d20-4a19-9dee-d7aa6a60ed99-2021-01-14T214439.481Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2854d105-0d20-4a19-9dee-d7aa6a60ed99"	"2024-04-21"
"GENCC_000102-HGNC_7693-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:7693"	"NDUFA9"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7693"	"NDUFA9"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-11-25 16:28:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87c6c5c5-7bf7-4bd2-94f0-2d529a512e74-2019-11-25T162851.567Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"87c6c5c5-7bf7-4bd2-94f0-2d529a512e74"	"2024-04-21"
"GENCC_000102-HGNC_18828-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:18828"	"NDUFAF1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18828"	"NDUFAF1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-02-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20bd44f6-360d-42ef-ba08-549773282d2e-2022-02-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20bd44f6-360d-42ef-ba08-549773282d2e"	"2024-04-21"
"GENCC_000102-HGNC_28086-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:28086"	"NDUFAF2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28086"	"NDUFAF2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-23 19:36:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c26c06d-17dc-4783-8145-5de35c9a73f5-2020-11-23T193634.959Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7c26c06d-17dc-4783-8145-5de35c9a73f5"	"2024-04-21"
"GENCC_000102-HGNC_29918-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:29918"	"NDUFAF3"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29918"	"NDUFAF3"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-07 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbdf3ba5-37d8-447d-888b-2762701bab49-2022-03-07T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fbdf3ba5-37d8-447d-888b-2762701bab49"	"2024-04-21"
"GENCC_000102-HGNC_21034-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:21034"	"NDUFAF4"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21034"	"NDUFAF4"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-02-12 19:47:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2df4e73b-a8a5-4ce2-bab6-2be732d3c542-2020-02-12T194734.160Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2df4e73b-a8a5-4ce2-bab6-2be732d3c542"	"2024-04-21"
"GENCC_000102-HGNC_15899-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:15899"	"NDUFAF5"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15899"	"NDUFAF5"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-09 13:52:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55a2c102-f05d-4ff1-9527-3a55fb3f00c3-2021-04-09T135236.631Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"55a2c102-f05d-4ff1-9527-3a55fb3f00c3"	"2024-04-21"
"GENCC_000102-HGNC_28625-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:28625"	"NDUFAF6"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28625"	"NDUFAF6"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-23 19:42:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7b6ace1-5b89-41c7-83a6-d6f37826d8c5-2020-11-23T194212.660Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f7b6ace1-5b89-41c7-83a6-d6f37826d8c5"	"2024-04-21"
"GENCC_000102-HGNC_33551-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:33551"	"NDUFAF8"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:33551"	"NDUFAF8"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-04-01 19:58:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3459bec0-88a8-463b-a135-54670357137a-2021-04-01T195856.777Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3459bec0-88a8-463b-a135-54670357137a"	"2024-04-21"
"GENCC_000102-HGNC_7696-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:7696"	"NDUFB10"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7696"	"NDUFB10"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bff63e5-63a2-44fe-9a3e-561442d9c931-2022-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2bff63e5-63a2-44fe-9a3e-561442d9c931"	"2024-04-21"
"GENCC_000102-HGNC_20372-MONDO_0044970-HP_0001417-GENCC_100001"	"HGNC:20372"	"NDUFB11"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:20372"	"NDUFB11"	"MONDO:0044970"	"mitochondrial disease"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b349c412-dba4-4b4d-91ba-47d72f8f910f-2022-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b349c412-dba4-4b4d-91ba-47d72f8f910f"	"2024-04-21"
"GENCC_000102-HGNC_7698-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:7698"	"NDUFB3"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7698"	"NDUFB3"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d93728e-eda7-4f4a-bd64-a1f545476ee8-2022-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5d93728e-eda7-4f4a-bd64-a1f545476ee8"	"2024-04-21"
"GENCC_000102-HGNC_7703-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:7703"	"NDUFB8"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7703"	"NDUFB8"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-21 00:44:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bef2c930-4b79-4938-8325-94a0f58cdfd9-2021-01-21T004458.566Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bef2c930-4b79-4938-8325-94a0f58cdfd9"	"2024-04-21"
"GENCC_000102-HGNC_7706-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:7706"	"NDUFC2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7706"	"NDUFC2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-21 00:40:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d819bce-43ed-45a3-a16b-74033d432272-2021-01-21T004055.963Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d819bce-43ed-45a3-a16b-74033d432272"	"2024-04-21"
"GENCC_000102-HGNC_7706-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:7706"	"NDUFC2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7706"	"NDUFC2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-12-18 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba9a01a8-3b86-420f-a7e8-a43898cab9fa-2023-12-18T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ba9a01a8-3b86-420f-a7e8-a43898cab9fa"	"2024-04-21"
"GENCC_000102-HGNC_7707-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:7707"	"NDUFS1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7707"	"NDUFS1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-06 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_048cc8f0-7d27-4108-ada2-5454791c0bc5-2023-11-06T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"048cc8f0-7d27-4108-ada2-5454791c0bc5"	"2024-04-21"
"GENCC_000102-HGNC_7707-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:7707"	"NDUFS1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7707"	"NDUFS1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-20 16:17:18"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6995e66-f840-485a-a635-b64cb9f45cd9-2019-06-20T161718.750Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b6995e66-f840-485a-a635-b64cb9f45cd9"	"2024-04-21"
"GENCC_000102-HGNC_7708-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:7708"	"NDUFS2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7708"	"NDUFS2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-09 14:31:44"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6df726c1-2897-46f8-aed1-f9939b9acf0c-2021-04-09T143144.546Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6df726c1-2897-46f8-aed1-f9939b9acf0c"	"2024-04-21"
"GENCC_000102-HGNC_7710-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:7710"	"NDUFS3"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7710"	"NDUFS3"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-06-20 16:25:02"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ae2af25-4fc1-48c3-a289-fae04977b192-2019-06-20T162502.779Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4ae2af25-4fc1-48c3-a289-fae04977b192"	"2024-04-21"
"GENCC_000102-HGNC_7711-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:7711"	"NDUFS4"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7711"	"NDUFS4"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-08 16:29:53"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ed6ae7f-8c64-4ca3-a71b-6e97ae21d71d-2019-04-08T162953.550Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1ed6ae7f-8c64-4ca3-a71b-6e97ae21d71d"	"2024-04-21"
"GENCC_000102-HGNC_7713-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:7713"	"NDUFS6"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7713"	"NDUFS6"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-31 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04cdc50a-1ce4-410e-88bb-9d75ed33bb46-2022-01-31T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"04cdc50a-1ce4-410e-88bb-9d75ed33bb46"	"2024-04-21"
"GENCC_000102-HGNC_7714-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:7714"	"NDUFS7"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7714"	"NDUFS7"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-11-25 16:00:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b702a150-de60-429e-bb12-ba8cde1483e7-2019-11-25T160008.570Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b702a150-de60-429e-bb12-ba8cde1483e7"	"2024-04-21"
"GENCC_000102-HGNC_7715-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:7715"	"NDUFS8"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7715"	"NDUFS8"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-11-25 15:24:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01a27520-f92a-4b81-b63b-c15132c873be-2019-11-25T152406.734Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"01a27520-f92a-4b81-b63b-c15132c873be"	"2024-04-21"
"GENCC_000102-HGNC_7716-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:7716"	"NDUFV1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7716"	"NDUFV1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-26 16:34:30"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b96e332-59c4-4636-8bdf-bf893ea059f1-2019-11-26T163430.120Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1b96e332-59c4-4636-8bdf-bf893ea059f1"	"2024-04-21"
"GENCC_000102-HGNC_7717-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:7717"	"NDUFV2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7717"	"NDUFV2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-04 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a5b5d66-4640-48a8-ac99-842593bac366-2023-12-04T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0a5b5d66-4640-48a8-ac99-842593bac366"	"2024-04-21"
"GENCC_000102-HGNC_7717-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:7717"	"NDUFV2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7717"	"NDUFV2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-11-25 14:57:48"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1266aed1-8c25-4b28-bf8a-a0e16d9b3da9-2019-11-25T145748.766Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1266aed1-8c25-4b28-bf8a-a0e16d9b3da9"	"2024-04-21"
"GENCC_000102-HGNC_7720-MONDO_0009725-HP_0000007-GENCC_100001"	"HGNC:7720"	"NEB"	"MONDO:0009725"	"nemaline myopathy 2"	"MONDO:0009725"	"nemaline myopathy 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7720"	"NEB"	"MONDO:0009725"	"nemaline myopathy 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_796dd762-f35c-425a-be3f-05424324ade0-2019-10-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"796dd762-f35c-425a-be3f-05424324ade0"	"2024-04-21"
"GENCC_000102-HGNC_16932-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:16932"	"NEBL"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16932"	"NEBL"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29bc6c4f-3f2d-45e2-b796-a79616857094-2020-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29bc6c4f-3f2d-45e2-b796-a79616857094"	"2024-04-21"
"GENCC_000102-HGNC_24539-MONDO_0100062-HP_0000007-GENCC_100003"	"HGNC:24539"	"NECAP1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24539"	"NECAP1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-01-17 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fa4d835-8c26-4b30-9f26-7b6fb64d6a0b-2023-01-17T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8fa4d835-8c26-4b30-9f26-7b6fb64d6a0b"	"2024-04-21"
"GENCC_000102-HGNC_7728-MONDO_0014966-HP_0000006-GENCC_100001"	"HGNC:7728"	"NEDD4L"	"MONDO:0014966"	"periventricular nodular heterotopia 7"	"MONDO:0014966"	"periventricular nodular heterotopia 7"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7728"	"NEDD4L"	"MONDO:0014966"	"periventricular nodular heterotopia 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b131d46a-069b-4c2e-a290-e7df2519a2df-2021-11-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b131d46a-069b-4c2e-a290-e7df2519a2df"	"2024-04-21"
"GENCC_000102-HGNC_7737-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:7737"	"NEFH"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7737"	"NEFH"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c71deac-6b11-4947-8834-8391d516a9c9-2023-03-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6c71deac-6b11-4947-8834-8391d516a9c9"	"2024-04-21"
"GENCC_000102-HGNC_7737-MONDO_0014836-HP_0000006-GENCC_100001"	"HGNC:7737"	"NEFH"	"MONDO:0014836"	"Charcot-Marie-Tooth disease axonal type 2CC"	"MONDO:0014836"	"Charcot-Marie-Tooth disease axonal type 2CC"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7737"	"NEFH"	"MONDO:0014836"	"Charcot-Marie-Tooth disease axonal type 2CC"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-05 16:16:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e1390ea-fd6c-4fa4-9b43-0eccff9e2829-2020-10-05T161645.817Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8e1390ea-fd6c-4fa4-9b43-0eccff9e2829"	"2024-04-21"
"GENCC_000102-HGNC_7739-MONDO_0018993-HP_0000007-GENCC_100001"	"HGNC:7739"	"NEFL"	"MONDO:0018993"	"Charcot-Marie-Tooth disease type 2"	"MONDO:0018993"	"Charcot-Marie-Tooth disease type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7739"	"NEFL"	"MONDO:0018993"	"Charcot-Marie-Tooth disease type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49d4cf82-b365-456e-9e35-2b28a66b71ec-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"49d4cf82-b365-456e-9e35-2b28a66b71ec"	"2024-04-21"
"GENCC_000102-HGNC_7739-MONDO_0015626-HP_0000006-GENCC_100001"	"HGNC:7739"	"NEFL"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7739"	"NEFL"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ec533a-b1cb-4d1d-b12a-61ee6ac6ab07-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"57ec533a-b1cb-4d1d-b12a-61ee6ac6ab07"	"2024-04-21"
"GENCC_000102-HGNC_7744-MONDO_0054750-HP_0000006-GENCC_100001"	"HGNC:7744"	"NEK1"	"MONDO:0054750"	"amyotrophic lateral sclerosis, susceptibility to, 24"	"MONDO:0054750"	"amyotrophic lateral sclerosis, susceptibility to, 24"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7744"	"NEK1"	"MONDO:0054750"	"amyotrophic lateral sclerosis, susceptibility to, 24"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-29 19:25:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb4f311c-df33-4d9e-8ac6-731b43b93615-2022-04-29T192526.542Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb4f311c-df33-4d9e-8ac6-731b43b93615"	"2024-04-21"
"GENCC_000102-HGNC_18592-MONDO_0032914-HP_0000007-GENCC_100002"	"HGNC:18592"	"NEK10"	"MONDO:0032914"	"ciliary dyskinesia, primary, 44"	"MONDO:0032914"	"ciliary dyskinesia, primary, 44"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18592"	"NEK10"	"MONDO:0032914"	"ciliary dyskinesia, primary, 44"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-07-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72a2f8fa-ee83-48cc-93fa-22a8990c8d13-2023-07-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"72a2f8fa-ee83-48cc-93fa-22a8990c8d13"	"2024-04-21"
"GENCC_000102-HGNC_13387-MONDO_0004691-HP_0000006-GENCC_100002"	"HGNC:13387"	"NEK8"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13387"	"NEK8"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2024-04-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32e19522-798c-4c32-a1f7-0cc42660b510-2024-04-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"32e19522-798c-4c32-a1f7-0cc42660b510"	"2024-04-21"
"GENCC_000102-HGNC_13387-MONDO_0014174-HP_0000007-GENCC_100001"	"HGNC:13387"	"NEK8"	"MONDO:0014174"	"renal-hepatic-pancreatic dysplasia 2"	"MONDO:0014174"	"renal-hepatic-pancreatic dysplasia 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13387"	"NEK8"	"MONDO:0014174"	"renal-hepatic-pancreatic dysplasia 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6888a91a-6589-42a9-9622-553b4918bed6-2021-09-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6888a91a-6589-42a9-9622-553b4918bed6"	"2024-04-21"
"GENCC_000102-HGNC_10663-MONDO_0030849-HP_0000007-GENCC_100002"	"HGNC:10663"	"NEMF"	"MONDO:0030849"	"intellectual developmental disorder with speech delay and axonal peripheral neuropathy"	"MONDO:0030849"	"intellectual developmental disorder with speech delay and axonal peripheral neuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10663"	"NEMF"	"MONDO:0030849"	"intellectual developmental disorder with speech delay and axonal peripheral neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67f2bf82-cc3e-4006-a8e6-3f6f1dcb2513-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"67f2bf82-cc3e-4006-a8e6-3f6f1dcb2513"	"2024-04-21"
"GENCC_000102-HGNC_7758-MONDO_0017734-HP_0000007-GENCC_100001"	"HGNC:7758"	"NEU1"	"MONDO:0017734"	"sialidosis"	"MONDO:0017734"	"sialidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7758"	"NEU1"	"MONDO:0017734"	"sialidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01f588c4-4fef-493d-b5e0-a76fb9492244-2022-09-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"01f588c4-4fef-493d-b5e0-a76fb9492244"	"2024-04-21"
"GENCC_000102-HGNC_7762-MONDO_0015967-HP_0000006-GENCC_100004"	"HGNC:7762"	"NEUROD1"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7762"	"NEUROD1"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-10-13 17:06:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f4e7f54-becc-432e-9827-514c783e6bc1-2021-10-13T170637.558Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8f4e7f54-becc-432e-9827-514c783e6bc1"	"2024-04-21"
"GENCC_000102-HGNC_7762-MONDO_0015967-HP_0000007-GENCC_100003"	"HGNC:7762"	"NEUROD1"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7762"	"NEUROD1"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-03-10 17:27:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9ace1b58-44d4-4479-9328-0871a8fb0e9f-2021-03-10T172754.003Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9ace1b58-44d4-4479-9328-0871a8fb0e9f"	"2024-04-21"
"GENCC_000102-HGNC_29433-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:29433"	"NEXMIF"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:29433"	"NEXMIF"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_191437ab-2e73-4a0b-a660-ab5eab4c1066-2020-02-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"191437ab-2e73-4a0b-a660-ab5eab4c1066"	"2024-04-21"
"GENCC_000102-HGNC_29557-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:29557"	"NEXN"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29557"	"NEXN"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9456bdef-7708-45b2-a698-c897167d7f5b-2023-03-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9456bdef-7708-45b2-a698-c897167d7f5b"	"2024-04-21"
"GENCC_000102-HGNC_29557-MONDO_0005021-HP_0000006-GENCC_100003"	"HGNC:29557"	"NEXN"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29557"	"NEXN"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffe00b43-a449-4476-b7e0-f24cf6613766-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ffe00b43-a449-4476-b7e0-f24cf6613766"	"2024-04-21"
"GENCC_000102-HGNC_7765-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:7765"	"NF1"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7765"	"NF1"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-02-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10082"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10082"	"2024-04-21"
"GENCC_000102-HGNC_7765-MONDO_0018975-HP_0000006-GENCC_100001"	"HGNC:7765"	"NF1"	"MONDO:0018975"	"neurofibromatosis type 1"	"MONDO:0018975"	"neurofibromatosis type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7765"	"NF1"	"MONDO:0018975"	"neurofibromatosis type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_367a3958-ce81-47fa-a505-a451ca67aab5-2019-03-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"367a3958-ce81-47fa-a505-a451ca67aab5"	"2024-04-21"
"GENCC_000102-HGNC_7773-MONDO_0007039-HP_0000006-GENCC_100001"	"HGNC:7773"	"NF2"	"MONDO:0007039"	"NF2-related schwannomatosis"	"MONDO:0007039"	"NF2-related schwannomatosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7773"	"NF2"	"MONDO:0007039"	"neurofibromatosis type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-02-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a185a859-a499-4c4a-bebe-996b16fb3cf3-2019-02-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a185a859-a499-4c4a-bebe-996b16fb3cf3"	"2024-04-21"
"GENCC_000102-HGNC_7775-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:7775"	"NFATC1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7775"	"NFATC1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-07-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8524125-b985-4fa5-bf8c-2cb6202964eb-2023-07-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f8524125-b985-4fa5-bf8c-2cb6202964eb"	"2024-04-21"
"GENCC_000102-HGNC_7776-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:7776"	"NFATC2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7776"	"NFATC2"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2024-03-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f22ef84-1ac1-412a-a134-bbe7617cf47f-2024-03-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6f22ef84-1ac1-412a-a134-bbe7617cf47f"	"2024-04-21"
"GENCC_000102-HGNC_7784-MONDO_0100478-HP_0000006-GENCC_100001"	"HGNC:7784"	"NFIA"	"MONDO:0100478"	"brain malformations with or without urinary tract defects"	"MONDO:0100478"	"brain malformations with or without urinary tract defects"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7784"	"NFIA"	"MONDO:0100478"	"brain malformations with or without urinary tract defects"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d5a5b89-8315-495a-b13d-448f9ba9c553-2022-10-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d5a5b89-8315-495a-b13d-448f9ba9c553"	"2024-04-21"
"GENCC_000102-HGNC_7788-MONDO_0011244-HP_0000006-GENCC_100001"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"MONDO:0011244"	"Marshall-Smith syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7788"	"NFIX"	"MONDO:0011244"	"Marshall-Smith syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ea5e599-a88b-46de-be18-62e71389c413-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5ea5e599-a88b-46de-be18-62e71389c413"	"2024-04-21"
"GENCC_000102-HGNC_7788-MONDO_0013885-HP_0000006-GENCC_100001"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan overgrowth syndrome"	"MONDO:0013885"	"Malan overgrowth syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7788"	"NFIX"	"MONDO:0013885"	"Malan overgrowth syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9313537f-649e-44b9-9a53-b77a9d7e070c-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9313537f-649e-44b9-9a53-b77a9d7e070c"	"2024-04-21"
"GENCC_000102-HGNC_7794-MONDO_0014697-HP_0000006-GENCC_100001"	"HGNC:7794"	"NFKB1"	"MONDO:0014697"	"immunodeficiency, common variable, 12"	"MONDO:0014697"	"immunodeficiency, common variable, 12"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7794"	"NFKB1"	"MONDO:0014697"	"immunodeficiency, common variable, 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-14 15:28:59"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e922c85d-f51a-4394-8906-cf01978d8154-2021-05-14T152859.709Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e922c85d-f51a-4394-8906-cf01978d8154"	"2024-04-21"
"GENCC_000102-HGNC_7795-MONDO_0014260-HP_0000006-GENCC_100001"	"HGNC:7795"	"NFKB2"	"MONDO:0014260"	"immunodeficiency, common variable, 10"	"MONDO:0014260"	"immunodeficiency, common variable, 10"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7795"	"NFKB2"	"MONDO:0014260"	"immunodeficiency, common variable, 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-13 13:26:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b546f1-5683-4588-a5bc-030ebbd5b401-2021-10-13T132601.192Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"61b546f1-5683-4588-a5bc-030ebbd5b401"	"2024-04-21"
"GENCC_000102-HGNC_29805-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:29805"	"NFKBIZ"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29805"	"NFKBIZ"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-07-10 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9867"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9867"	"2024-04-21"
"GENCC_000102-HGNC_16287-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:16287"	"NFU1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16287"	"NFU1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1adb01f7-d226-4f55-ab00-adb513c20e80-2023-07-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1adb01f7-d226-4f55-ab00-adb513c20e80"	"2024-04-21"
"GENCC_000102-HGNC_7808-MONDO_0015364-HP_0000007-GENCC_100002"	"HGNC:7808"	"NGF"	"MONDO:0015364"	"hereditary sensory and autonomic neuropathy"	"MONDO:0015364"	"hereditary sensory and autonomic neuropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7808"	"NGF"	"MONDO:0015364"	"hereditary sensory and autonomic neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-05-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0b3691d-a3d3-42f6-9703-18af08f40688-2023-05-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f0b3691d-a3d3-42f6-9703-18af08f40688"	"2024-04-21"
"GENCC_000102-HGNC_17646-MONDO_0800044-HP_0000007-GENCC_100001"	"HGNC:17646"	"NGLY1"	"MONDO:0800044"	"congenital disorder of deglycosylation 1"	"MONDO:0800044"	"congenital disorder of deglycosylation 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17646"	"NGLY1"	"MONDO:0800044"	"congenital disorder of deglycosylation 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d9f5127-4673-4cc2-99b4-5f220274bc90-2022-10-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d9f5127-4673-4cc2-99b4-5f220274bc90"	"2024-04-21"
"GENCC_000102-HGNC_25737-MONDO_0012650-HP_0000007-GENCC_100001"	"HGNC:25737"	"NHEJ1"	"MONDO:0012650"	"Cernunnos-XLF deficiency"	"MONDO:0012650"	"Cernunnos-XLF deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25737"	"NHEJ1"	"MONDO:0012650"	"Cernunnos-XLF deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-20 15:12:33"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_765b118e-c60a-4696-b401-f63b3349d6d2-2021-05-20T151233.276Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"765b118e-c60a-4696-b401-f63b3349d6d2"	"2024-04-21"
"GENCC_000102-HGNC_21576-MONDO_0009697-HP_0000007-GENCC_100001"	"HGNC:21576"	"NHLRC1"	"MONDO:0009697"	"Lafora disease"	"MONDO:0009697"	"Lafora disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21576"	"NHLRC1"	"MONDO:0009697"	"Lafora disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4dbe715-b897-482d-afeb-b05c0653a79a-2020-03-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c4dbe715-b897-482d-afeb-b05c0653a79a"	"2024-04-21"
"GENCC_000102-HGNC_14377-MONDO_0015780-HP_0000007-GENCC_100004"	"HGNC:14377"	"NHP2"	"MONDO:0015780"	"dyskeratosis congenita"	"MONDO:0015780"	"dyskeratosis congenita"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14377"	"NHP2"	"MONDO:0015780"	"dyskeratosis congenita"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-01-25 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3201"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3201"	"2024-04-21"
"GENCC_000102-HGNC_7820-MONDO_0010545-HP_0001417-GENCC_100001"	"HGNC:7820"	"NHS"	"MONDO:0010545"	"Nance-Horan syndrome"	"MONDO:0010545"	"Nance-Horan syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:7820"	"NHS"	"MONDO:0010545"	"Nance-Horan syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-10-20 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7f57ca3-efb2-4333-9ae1-732aa429f37a-2017-10-20T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7f57ca3-efb2-4333-9ae1-732aa429f37a"	"2024-04-21"
"GENCC_000102-HGNC_28862-MONDO_0016033-HP_0000006-GENCC_100001"	"HGNC:28862"	"NIPBL"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28862"	"NIPBL"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-28 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4ecc430-6562-4d58-9118-c5253dc95ae9-2023-06-28T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d4ecc430-6562-4d58-9118-c5253dc95ae9"	"2024-04-21"
"GENCC_000102-HGNC_11825-MONDO_0100520-HP_0000006-GENCC_100001"	"HGNC:11825"	"NKX2-1"	"MONDO:0100520"	"NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction"	"MONDO:0100520"	"NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11825"	"NKX2-1"	"MONDO:0100520"	"NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c584f6b9-ce28-4020-b34f-5d63a70a249b-2023-07-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c584f6b9-ce28-4020-b34f-5d63a70a249b"	"2024-04-21"
"GENCC_000102-HGNC_2488-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:2488"	"NKX2-5"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2488"	"NKX2-5"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6335de7f-71db-4768-8fa0-6faebd0ea0e8-2020-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6335de7f-71db-4768-8fa0-6faebd0ea0e8"	"2024-04-21"
"GENCC_000102-HGNC_2488-MONDO_0800441-HP_0000006-GENCC_100001"	"HGNC:2488"	"NKX2-5"	"MONDO:0800441"	"NKX2.5-related congenital, conduction and myopathic heart disease"	"MONDO:0800441"	"NKX2.5-related congenital, conduction and myopathic heart disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2488"	"NKX2-5"	"MONDO:0800441"	"NKX2.5-related congenital, conduction and myopathic heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c429ebe5-43ec-40e7-9d73-55bbbb44f6d1-2023-06-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c429ebe5-43ec-40e7-9d73-55bbbb44f6d1"	"2024-04-21"
"GENCC_000102-HGNC_32940-MONDO_0005453-HP_0000007-GENCC_100004"	"HGNC:32940"	"NKX2-6"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:32940"	"NKX2-6"	"MONDO:0005453"	"congenital heart disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-01-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3910a6d-6df0-419b-8dee-e5075bfee8f8-2024-01-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f3910a6d-6df0-419b-8dee-e5075bfee8f8"	"2024-04-21"
"GENCC_000102-HGNC_14289-MONDO_0100148-HP_0001417-GENCC_100003"	"HGNC:14289"	"NLGN3"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:14289"	"NLGN3"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2018-08-15 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6e7e531-093b-4216-8c56-0c94e63c2811-2018-08-15T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b6e7e531-093b-4216-8c56-0c94e63c2811"	"2024-04-21"
"GENCC_000102-HGNC_14287-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:14287"	"NLGN4X"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:14287"	"NLGN4X"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-08-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bed32aec-b1a6-41ff-9607-b4172888c46a-2018-08-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bed32aec-b1a6-41ff-9607-b4172888c46a"	"2024-04-21"
"GENCC_000102-HGNC_7853-MONDO_0031054-HP_0000007-GENCC_100003"	"HGNC:7853"	"NME5"	"MONDO:0031054"	"ciliary dyskinesia, primary, 48, without situs inversus"	"MONDO:0031054"	"ciliary dyskinesia, primary, 48, without situs inversus"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7853"	"NME5"	"MONDO:0031054"	"ciliary dyskinesia, primary, 48, without situs inversus"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00efe110-5916-4da0-92ac-cee8c8b18140-2024-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"00efe110-5916-4da0-92ac-cee8c8b18140"	"2024-04-21"
"GENCC_000102-HGNC_16473-MONDO_0012571-HP_0000007-GENCC_100004"	"HGNC:16473"	"NME8"	"MONDO:0012571"	"primary ciliary dyskinesia 6"	"MONDO:0012571"	"primary ciliary dyskinesia 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16473"	"NME8"	"MONDO:0012571"	"primary ciliary dyskinesia 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-06-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ca8383-55b6-4edd-9be2-67b1c5142ed1-2023-06-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"57ca8383-55b6-4edd-9be2-67b1c5142ed1"	"2024-04-21"
"GENCC_000102-HGNC_17877-MONDO_0800101-HP_0000007-GENCC_100001"	"HGNC:17877"	"NMNAT1"	"MONDO:0800101"	"NMNAT1-related retinopathy"	"MONDO:0800101"	"NMNAT1-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17877"	"NMNAT1"	"MONDO:0800101"	"NMNAT1-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6733bc3-489d-413d-9dbe-1bca25f48d49-2021-11-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a6733bc3-489d-413d-9dbe-1bca25f48d49"	"2024-04-21"
"GENCC_000102-HGNC_5331-MONDO_0008523-HP_0000006-GENCC_100001"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"MONDO:0008523"	"Blau syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:5331"	"NOD2"	"MONDO:0008523"	"Blau syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-07 17:18:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fd650d7-6a84-4b33-b86e-d34cab5b7d57-2020-10-07T171807.983Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1fd650d7-6a84-4b33-b86e-d34cab5b7d57"	"2024-04-21"
"GENCC_000102-HGNC_7866-MONDO_0100521-HP_0000006-GENCC_100001"	"HGNC:7866"	"NOG"	"MONDO:0100521"	"NOG-related symphalangism spectrum disorder"	"MONDO:0100521"	"NOG-related symphalangism spectrum disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7866"	"NOG"	"MONDO:0100521"	"NOG-related symphalangism spectrum disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab71a633-1fd2-45b8-93f3-40648526631d-2023-07-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab71a633-1fd2-45b8-93f3-40648526631d"	"2024-04-21"
"GENCC_000102-HGNC_7871-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:7871"	"NONO"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:7871"	"NONO"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-05 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82c86e42-461d-459e-b20e-70f2b51df099-2023-04-05T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82c86e42-461d-459e-b20e-70f2b51df099"	"2024-04-21"
"GENCC_000102-HGNC_7881-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:7881"	"NOTCH1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7881"	"NOTCH1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-04-06 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8269"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8269"	"2024-04-21"
"GENCC_000102-HGNC_7883-MONDO_0015924-HP_0000006-GENCC_100005"	"HGNC:7883"	"NOTCH3"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7883"	"NOTCH3"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d59e2823-a923-4c3e-8976-c3451eaa8666-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d59e2823-a923-4c3e-8976-c3451eaa8666"	"2024-04-21"
"GENCC_000102-HGNC_7897-MONDO_0009757-HP_0000007-GENCC_100001"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7897"	"NPC1"	"MONDO:0009757"	"Niemann-Pick disease, type C1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8459873-2577-43ff-966c-e5180683d4f4-2022-03-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e8459873-2577-43ff-966c-e5180683d4f4"	"2024-04-21"
"GENCC_000102-HGNC_14537-MONDO_0011873-HP_0000007-GENCC_100001"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14537"	"NPC2"	"MONDO:0011873"	"Niemann-Pick disease, type C2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-06 13:01:35"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82bb23dd-d3bc-478d-bb3d-d1928e810029-2022-04-06T130135.185Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82bb23dd-d3bc-478d-bb3d-d1928e810029"	"2024-04-21"
"GENCC_000102-HGNC_7905-MONDO_0009728-HP_0000007-GENCC_100001"	"HGNC:7905"	"NPHP1"	"MONDO:0009728"	"nephronophthisis 1"	"MONDO:0009728"	"nephronophthisis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7905"	"NPHP1"	"MONDO:0009728"	"nephronophthisis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abc69434-e9e6-4a2b-96b6-b7186f40021f-2021-01-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"abc69434-e9e6-4a2b-96b6-b7186f40021f"	"2024-04-21"
"GENCC_000102-HGNC_7907-MONDO_0019005-HP_0000007-GENCC_100001"	"HGNC:7907"	"NPHP3"	"MONDO:0019005"	"nephronophthisis"	"MONDO:0019005"	"nephronophthisis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7907"	"NPHP3"	"MONDO:0019005"	"nephronophthisis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47c3a0f1-9c14-4c92-83f2-e1105d528097-2021-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"47c3a0f1-9c14-4c92-83f2-e1105d528097"	"2024-04-21"
"GENCC_000102-HGNC_19104-MONDO_0011752-HP_0000007-GENCC_100001"	"HGNC:19104"	"NPHP4"	"MONDO:0011752"	"nephronophthisis 4"	"MONDO:0011752"	"nephronophthisis 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19104"	"NPHP4"	"MONDO:0011752"	"nephronophthisis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cafd0d51-dd5d-4691-8725-86518345b097-2021-02-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cafd0d51-dd5d-4691-8725-86518345b097"	"2024-04-21"
"GENCC_000102-HGNC_7908-MONDO_0009732-HP_0000007-GENCC_100001"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7908"	"NPHS1"	"MONDO:0009732"	"congenital nephrotic syndrome, Finnish type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-10 01:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b474ea36-3ba2-4a2e-b6f6-eaa0f05c05b8-2022-01-10T013000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b474ea36-3ba2-4a2e-b6f6-eaa0f05c05b8"	"2024-04-21"
"GENCC_000102-HGNC_7939-MONDO_0005021-HP_0000007-GENCC_100008"	"HGNC:7939"	"NPPA"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:7939"	"NPPA"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d85124b6-b754-4a0f-bbe4-3bbf1ca95283-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d85124b6-b754-4a0f-bbe4-3bbf1ca95283"	"2024-04-21"
"GENCC_000102-HGNC_24969-MONDO_0005384-HP_0000006-GENCC_100001"	"HGNC:24969"	"NPRL2"	"MONDO:0005384"	"focal epilepsy"	"MONDO:0005384"	"focal epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24969"	"NPRL2"	"MONDO:0005384"	"focal epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-18 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f386a6d-0a4a-4474-b9ad-586712395b8d-2023-07-18T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0f386a6d-0a4a-4474-b9ad-586712395b8d"	"2024-04-21"
"GENCC_000102-HGNC_14124-MONDO_0005384-HP_0000006-GENCC_100001"	"HGNC:14124"	"NPRL3"	"MONDO:0005384"	"focal epilepsy"	"MONDO:0005384"	"focal epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14124"	"NPRL3"	"MONDO:0005384"	"focal epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-01 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19a476ce-334f-4727-bbf2-ea4cfa37a223-2023-08-01T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"19a476ce-334f-4727-bbf2-ea4cfa37a223"	"2024-04-21"
"GENCC_000102-HGNC_7975-MONDO_0014320-HP_0000006-GENCC_100001"	"HGNC:7975"	"NR2F1"	"MONDO:0014320"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"MONDO:0014320"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7975"	"NR2F1"	"MONDO:0014320"	"Bosch-Boonstra-Schaaf optic atrophy syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aa4efce-b5b8-4cbd-b043-bb89c5283e3c-2022-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1aa4efce-b5b8-4cbd-b043-bb89c5283e3c"	"2024-04-21"
"GENCC_000102-HGNC_7976-MONDO_0800458-HP_0000006-GENCC_100001"	"HGNC:7976"	"NR2F2"	"MONDO:0800458"	"NR2F2 related multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0800458"	"NR2F2 related multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7976"	"NR2F2"	"MONDO:0800458"	"NR2F2 related multiple congenital anomalies/dysmorphic syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bac9024-04eb-4cea-8886-3181c948e54b-2023-08-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2bac9024-04eb-4cea-8886-3181c948e54b"	"2024-04-21"
"GENCC_000102-HGNC_7979-MONDO_0011517-HP_0000006-GENCC_100004"	"HGNC:7979"	"NR3C2"	"MONDO:0011517"	"pseudohyperaldosteronism type 2"	"MONDO:0011517"	"pseudohyperaldosteronism type 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7979"	"NR3C2"	"MONDO:0011517"	"pseudohyperaldosteronism type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-07-15 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26410755-d552-4111-9f23-14dbeaa99293-2021-07-15T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"26410755-d552-4111-9f23-14dbeaa99293"	"2024-04-21"
"GENCC_000102-HGNC_7979-MONDO_0008329-HP_0000006-GENCC_100001"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7979"	"NR3C2"	"MONDO:0008329"	"autosomal dominant pseudohypoaldosteronism type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-15 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c78e824-d77d-4635-a181-6139b8e9c028-2021-07-15T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8c78e824-d77d-4635-a181-6139b8e9c028"	"2024-04-21"
"GENCC_000102-HGNC_7981-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:7981"	"NR4A2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7981"	"NR4A2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8923fda-35f3-47e3-a987-8ca2b86e4b92-2021-05-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c8923fda-35f3-47e3-a987-8ca2b86e4b92"	"2024-04-21"
"GENCC_000102-HGNC_7989-MONDO_0009026-HP_0000006-GENCC_100004"	"HGNC:7989"	"NRAS"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7989"	"NRAS"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28526e91-0db9-4724-94f3-e4222ace602c-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"28526e91-0db9-4724-94f3-e4222ace602c"	"2024-04-21"
"GENCC_000102-HGNC_7989-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:7989"	"NRAS"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7989"	"NRAS"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34419b69-59c3-458b-a2a5-38a401679deb-2018-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"34419b69-59c3-458b-a2a5-38a401679deb"	"2024-04-21"
"GENCC_000102-HGNC_7989-MONDO_0015280-HP_0000006-GENCC_100004"	"HGNC:7989"	"NRAS"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7989"	"NRAS"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d466df2a-8e3d-4d4a-bb96-8e483d4c56e7-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d466df2a-8e3d-4d4a-bb96-8e483d4c56e7"	"2024-04-21"
"GENCC_000102-HGNC_7989-MONDO_0007893-HP_0000006-GENCC_100004"	"HGNC:7989"	"NRAS"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7989"	"NRAS"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5622684-4367-4d90-b769-f7205ee1cac8-2018-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e5622684-4367-4d90-b769-f7205ee1cac8"	"2024-04-21"
"GENCC_000102-HGNC_8004-MONDO_0005453-HP_0000007-GENCC_100004"	"HGNC:8004"	"NRP1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8004"	"NRP1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d5cd16a-bbd6-4cb0-bdb8-27b8bd4f0948-2024-03-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4d5cd16a-bbd6-4cb0-bdb8-27b8bd4f0948"	"2024-04-21"
"GENCC_000102-HGNC_24613-MONDO_0030033-HP_0000007-GENCC_100001"	"HGNC:24613"	"NRROS"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24613"	"NRROS"	"MONDO:0030033"	"seizures, early-onset, with neurodegeneration and brain calcifications"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebf06969-1af8-411f-bc64-7f1563851363-2023-09-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ebf06969-1af8-411f-bc64-7f1563851363"	"2024-04-21"
"GENCC_000102-HGNC_8008-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:8008"	"NRXN1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8008"	"NRXN1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14bb833a-eefd-4f02-b112-c74b6866d5be-2019-07-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14bb833a-eefd-4f02-b112-c74b6866d5be"	"2024-04-21"
"GENCC_000102-HGNC_14234-MONDO_0019349-HP_0000006-GENCC_100001"	"HGNC:14234"	"NSD1"	"MONDO:0019349"	"Sotos syndrome"	"MONDO:0019349"	"Sotos syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14234"	"NSD1"	"MONDO:0019349"	"Sotos syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa1a412a-ee7d-4517-81ba-0ceead9668d1-2018-10-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aa1a412a-ee7d-4517-81ba-0ceead9668d1"	"2024-04-21"
"GENCC_000102-HGNC_12766-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:12766"	"NSD2"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12766"	"NSD2"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-02 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de3c113b-0a7d-454d-88e3-faf4f1fdb9ac-2021-06-02T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"de3c113b-0a7d-454d-88e3-faf4f1fdb9ac"	"2024-04-21"
"GENCC_000102-HGNC_13398-MONDO_0010441-HP_0001417-GENCC_100003"	"HGNC:13398"	"NSDHL"	"MONDO:0010441"	"CK syndrome"	"MONDO:0010441"	"CK syndrome"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:13398"	"NSDHL"	"MONDO:0010441"	"CK syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d94406f0-a459-47ed-aabc-80c7b6be9293-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d94406f0-a459-47ed-aabc-80c7b6be9293"	"2024-04-21"
"GENCC_000102-HGNC_25994-MONDO_0021060-HP_0000007-GENCC_100005"	"HGNC:25994"	"NSUN2"	"MONDO:0021060"	"RASopathy"	"MONDO:0021060"	"RASopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25994"	"NSUN2"	"MONDO:0021060"	"RASopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2019-02-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6442d764-3ff8-41f4-984d-776254226b05-2019-02-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6442d764-3ff8-41f4-984d-776254226b05"	"2024-04-21"
"GENCC_000102-HGNC_8024-MONDO_0013134-HP_0000006-GENCC_100005"	"HGNC:8024"	"NTF4"	"MONDO:0013134"	"glaucoma 1, open angle, O"	"MONDO:0013134"	"glaucoma 1, open angle, O"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8024"	"NTF4"	"MONDO:0013134"	"glaucoma 1, open angle, O"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_144eb479-2c08-47cd-a6d2-8e1abef5cf54-2022-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"144eb479-2c08-47cd-a6d2-8e1abef5cf54"	"2024-04-21"
"GENCC_000102-HGNC_8028-MONDO_0100502-HP_0000007-GENCC_100001"	"HGNC:8028"	"NTHL1"	"MONDO:0100502"	"NTHL1-deficiency tumor predisposition syndrome"	"MONDO:0100502"	"NTHL1-deficiency tumor predisposition syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8028"	"NTHL1"	"MONDO:0100502"	"NTHL1-deficiency tumor predisposition syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a612b05-25f2-4e60-90a5-70ad6363c1fc-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7a612b05-25f2-4e60-90a5-70ad6363c1fc"	"2024-04-21"
"GENCC_000102-HGNC_23319-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:23319"	"NTNG1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23319"	"NTNG1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-02-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c648acf-5801-481b-a1c4-f950e99d4d96-2021-02-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2c648acf-5801-481b-a1c4-f950e99d4d96"	"2024-04-21"
"GENCC_000102-HGNC_8031-MONDO_0009746-HP_0000007-GENCC_100001"	"HGNC:8031"	"NTRK1"	"MONDO:0009746"	"hereditary sensory and autonomic neuropathy type 4"	"MONDO:0009746"	"hereditary sensory and autonomic neuropathy type 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8031"	"NTRK1"	"MONDO:0009746"	"hereditary sensory and autonomic neuropathy type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-17 03:09:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e716345f-08da-4a06-b3e1-d07974a4305d-2021-11-17T030955.951Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e716345f-08da-4a06-b3e1-d07974a4305d"	"2024-04-21"
"GENCC_000102-HGNC_8033-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:8033"	"NTRK3"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8033"	"NTRK3"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2024-02-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ec69048-b11f-41f5-b160-c184ae1d65e6-2024-02-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7ec69048-b11f-41f5-b160-c184ae1d65e6"	"2024-04-21"
"GENCC_000102-HGNC_20278-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:20278"	"NUBPL"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20278"	"NUBPL"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-03-19 19:51:15"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4365ffcd-637c-4862-9fa0-fb8a780a6d25-2020-03-19T195115.036Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4365ffcd-637c-4862-9fa0-fb8a780a6d25"	"2024-04-21"
"GENCC_000102-HGNC_8066-MONDO_0009723-HP_0000007-GENCC_100005"	"HGNC:8066"	"NUP62"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8066"	"NUP62"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-12-16 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8441b4db-da7d-49a2-816c-9f868a96ffab-2020-12-16T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8441b4db-da7d-49a2-816c-9f868a96ffab"	"2024-04-21"
"GENCC_000102-HGNC_8082-MONDO_0800407-HP_0001417-GENCC_100001"	"HGNC:8082"	"NYX"	"MONDO:0800407"	"NYX-related retinopathy"	"MONDO:0800407"	"NYX-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8082"	"NYX"	"MONDO:0800407"	"NYX-related retinopathy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c48083c5-2ef8-45ee-a97f-dc973d5d5072-2022-03-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c48083c5-2ef8-45ee-a97f-dc973d5d5072"	"2024-04-21"
"GENCC_000102-HGNC_8091-MONDO_0009796-HP_0000007-GENCC_100001"	"HGNC:8091"	"OAT"	"MONDO:0009796"	"ornithine aminotransferase deficiency"	"MONDO:0009796"	"ornithine aminotransferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8091"	"OAT"	"MONDO:0009796"	"ornithine aminotransferase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edbab666-9ae6-46db-b818-809a4bf8333e-2019-07-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"edbab666-9ae6-46db-b818-809a4bf8333e"	"2024-04-21"
"GENCC_000102-HGNC_15719-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:15719"	"OBSCN"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15719"	"OBSCN"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94265ca9-cf6a-468e-b12c-6ea173d09e51-2022-04-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"94265ca9-cf6a-468e-b12c-6ea173d09e51"	"2024-04-21"
"GENCC_000102-HGNC_15719-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:15719"	"OBSCN"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15719"	"OBSCN"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-11-06 18:06:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1b69281-f3d0-4efe-998d-db080868b57e-2020-11-06T180624.436Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e1b69281-f3d0-4efe-998d-db080868b57e"	"2024-04-21"
"GENCC_000102-HGNC_8101-MONDO_0008746-HP_0000007-GENCC_100001"	"HGNC:8101"	"OCA2"	"MONDO:0008746"	"oculocutaneous albinism type 2"	"MONDO:0008746"	"oculocutaneous albinism type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8101"	"OCA2"	"MONDO:0008746"	"oculocutaneous albinism type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7433c1e2-a3a6-4351-88e0-cb3edcf39910-2021-08-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7433c1e2-a3a6-4351-88e0-cb3edcf39910"	"2024-04-21"
"GENCC_000102-HGNC_8108-MONDO_0010645-HP_0001417-GENCC_100001"	"HGNC:8108"	"OCRL"	"MONDO:0010645"	"oculocerebrorenal syndrome"	"MONDO:0010645"	"oculocerebrorenal syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8108"	"OCRL"	"MONDO:0010645"	"oculocerebrorenal syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5140c756-fac0-435b-8f59-a5d4a0b0adb3-2020-07-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5140c756-fac0-435b-8f59-a5d4a0b0adb3"	"2024-04-21"
"GENCC_000102-HGNC_26560-MONDO_0014030-HP_0000007-GENCC_100001"	"HGNC:26560"	"ODAD1"	"MONDO:0014030"	"primary ciliary dyskinesia 20"	"MONDO:0014030"	"primary ciliary dyskinesia 20"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26560"	"ODAD1"	"MONDO:0014030"	"primary ciliary dyskinesia 20"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-17 11:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_999e752a-e549-447f-b142-265be7dd5935-2022-08-17T110000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"999e752a-e549-447f-b142-265be7dd5935"	"2024-04-21"
"GENCC_000102-HGNC_25583-MONDO_0014193-HP_0000007-GENCC_100001"	"HGNC:25583"	"ODAD2"	"MONDO:0014193"	"primary ciliary dyskinesia 23"	"MONDO:0014193"	"primary ciliary dyskinesia 23"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25583"	"ODAD2"	"MONDO:0014193"	"primary ciliary dyskinesia 23"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ac46902-bffa-46f9-bc0d-081e6461d5e2-2022-12-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4ac46902-bffa-46f9-bc0d-081e6461d5e2"	"2024-04-21"
"GENCC_000102-HGNC_28303-MONDO_0014465-HP_0000007-GENCC_100001"	"HGNC:28303"	"ODAD3"	"MONDO:0014465"	"primary ciliary dyskinesia 30"	"MONDO:0014465"	"primary ciliary dyskinesia 30"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28303"	"ODAD3"	"MONDO:0014465"	"primary ciliary dyskinesia 30"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3238f748-9461-4704-ae35-02115485fab6-2023-03-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3238f748-9461-4704-ae35-02115485fab6"	"2024-04-21"
"GENCC_000102-HGNC_25280-MONDO_0014910-HP_0000007-GENCC_100001"	"HGNC:25280"	"ODAD4"	"MONDO:0014910"	"primary ciliary dyskinesia 35"	"MONDO:0014910"	"primary ciliary dyskinesia 35"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25280"	"ODAD4"	"MONDO:0014910"	"primary ciliary dyskinesia 35"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_547fed6e-47df-44b5-bf4a-e31f7b045862-2022-12-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"547fed6e-47df-44b5-bf4a-e31f7b045862"	"2024-04-21"
"GENCC_000102-HGNC_2567-MONDO_0005308-HP_0001417-GENCC_100001"	"HGNC:2567"	"OFD1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:2567"	"OFD1"	"MONDO:0005308"	"ciliopathy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-27 16:51:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15e32789-4f24-4870-94d3-b5618e67509f-2018-04-27T165136.294Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"15e32789-4f24-4870-94d3-b5618e67509f"	"2024-04-21"
"GENCC_000102-HGNC_8127-MONDO_0030907-HP_0001417-GENCC_100003"	"HGNC:8127"	"OGT"	"MONDO:0030907"	"intellectual disability, X-linked 106"	"MONDO:0030907"	"intellectual disability, X-linked 106"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8127"	"OGT"	"MONDO:0030907"	"intellectual disability, X-linked 106"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-07-27 14:58:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07776d36-7494-4ee4-992e-c6fb82c36749-2021-07-27T145857.330Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"07776d36-7494-4ee4-992e-c6fb82c36749"	"2024-04-21"
"GENCC_000102-HGNC_8140-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:8140"	"OPA1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8140"	"OPA1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-06-14 15:21:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e72abd1-4b0a-4f66-b681-7a51d4467026-2021-06-14T152117.821Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7e72abd1-4b0a-4f66-b681-7a51d4467026"	"2024-04-21"
"GENCC_000102-HGNC_8140-MONDO_0800181-HP_0032113-GENCC_100001"	"HGNC:8140"	"OPA1"	"MONDO:0800181"	"OPA1-related optic atrophy with or without extraocular features"	"MONDO:0800181"	"OPA1-related optic atrophy with or without extraocular features"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:8140"	"OPA1"	"MONDO:0800181"	"OPA1-related optic atrophy with or without extraocular features"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc3f3ec8-0394-4732-bb4b-d75aaa5bdbcb-2022-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fc3f3ec8-0394-4732-bb4b-d75aaa5bdbcb"	"2024-04-21"
"GENCC_000102-HGNC_8148-MONDO_0010337-HP_0001417-GENCC_100001"	"HGNC:8148"	"OPHN1"	"MONDO:0010337"	"X-linked intellectual disability-cerebellar hypoplasia syndrome"	"MONDO:0010337"	"X-linked intellectual disability-cerebellar hypoplasia syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8148"	"OPHN1"	"MONDO:0010337"	"X-linked intellectual disability-cerebellar hypoplasia syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-24 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0cb6e45b-501d-4a6f-b76b-b50d92d48f16-2023-08-24T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0cb6e45b-501d-4a6f-b76b-b50d92d48f16"	"2024-04-21"
"GENCC_000102-HGNC_17142-MONDO_0013264-HP_0032113-GENCC_100001"	"HGNC:17142"	"OPTN"	"MONDO:0013264"	"amyotrophic lateral sclerosis type 12"	"MONDO:0013264"	"amyotrophic lateral sclerosis type 12"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:17142"	"OPTN"	"MONDO:0013264"	"amyotrophic lateral sclerosis type 12"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d8edc80-413c-4c76-bf06-89198175ac65-2022-05-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d8edc80-413c-4c76-bf06-89198175ac65"	"2024-04-21"
"GENCC_000102-HGNC_17142-MONDO_0011693-HP_0000006-GENCC_100001"	"HGNC:17142"	"OPTN"	"MONDO:0011693"	"glaucoma, normal tension, susceptibility to"	"MONDO:0011693"	"glaucoma, normal tension, susceptibility to"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17142"	"OPTN"	"MONDO:0011693"	"glaucoma, normal tension, susceptibility to"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22efb828-c989-4584-97f9-e1d795b7468f-2022-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"22efb828-c989-4584-97f9-e1d795b7468f"	"2024-04-21"
"GENCC_000102-HGNC_25896-MONDO_0008051-HP_0000006-GENCC_100001"	"HGNC:25896"	"ORAI1"	"MONDO:0008051"	"tubular aggregate myopathy"	"MONDO:0008051"	"tubular aggregate myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:25896"	"ORAI1"	"MONDO:0008051"	"tubular aggregate myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-13 16:49:19"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb8d614e-e8ff-4f16-bba3-6fc35ea56e8a-2020-07-13T164919.164Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb8d614e-e8ff-4f16-bba3-6fc35ea56e8a"	"2024-04-21"
"GENCC_000102-HGNC_8490-MONDO_0013428-HP_0000007-GENCC_100003"	"HGNC:8490"	"ORC4"	"MONDO:0013428"	"Meier-Gorlin syndrome 2"	"MONDO:0013428"	"Meier-Gorlin syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8490"	"ORC4"	"MONDO:0013428"	"Meier-Gorlin syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d00eb95c-5496-4051-a4e1-c327b71fe6e4-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d00eb95c-5496-4051-a4e1-c327b71fe6e4"	"2024-04-21"
"GENCC_000102-HGNC_17151-MONDO_0013430-HP_0000007-GENCC_100001"	"HGNC:17151"	"ORC6"	"MONDO:0013430"	"Meier-Gorlin syndrome 3"	"MONDO:0013430"	"Meier-Gorlin syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17151"	"ORC6"	"MONDO:0013430"	"Meier-Gorlin syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0054af97-33ac-4c63-8871-d948d6d184d9-2023-07-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0054af97-33ac-4c63-8871-d948d6d184d9"	"2024-04-21"
"GENCC_000102-HGNC_15761-MONDO_0019497-HP_0000006-GENCC_100003"	"HGNC:15761"	"OSBPL2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15761"	"OSBPL2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-02-06 17:20:31"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a493a4c4-3a9f-431a-a68e-d90d9a11b6f0-2020-02-06T172031.658Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a493a4c4-3a9f-431a-a68e-d90d9a11b6f0"	"2024-04-21"
"GENCC_000102-HGNC_8512-MONDO_0010703-HP_0001417-GENCC_100001"	"HGNC:8512"	"OTC"	"MONDO:0010703"	"ornithine carbamoyltransferase deficiency"	"MONDO:0010703"	"ornithine carbamoyltransferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8512"	"OTC"	"MONDO:0010703"	"ornithine carbamoyltransferase deficiency"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-29 18:13:25"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132fafbf-bb34-447c-9f6a-65803679eeb8-2019-10-29T181325.783Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"132fafbf-bb34-447c-9f6a-65803679eeb8"	"2024-04-21"
"GENCC_000102-HGNC_16378-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:16378"	"OTOA"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16378"	"OTOA"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-01 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87661be2-f024-49bb-a60e-a906f7f113b7-2018-05-01T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"87661be2-f024-49bb-a60e-a906f7f113b7"	"2024-04-21"
"GENCC_000102-HGNC_8515-MONDO_0010986-HP_0000007-GENCC_100001"	"HGNC:8515"	"OTOF"	"MONDO:0010986"	"autosomal recessive nonsyndromic hearing loss 9"	"MONDO:0010986"	"autosomal recessive nonsyndromic hearing loss 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8515"	"OTOF"	"MONDO:0010986"	"autosomal recessive nonsyndromic hearing loss 9"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-01-30 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5613"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5613"	"2024-04-21"
"GENCC_000102-HGNC_8516-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:8516"	"OTOG"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8516"	"OTOG"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fac4fd4-d674-4017-a9a6-1d6793162c6b-2018-06-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0fac4fd4-d674-4017-a9a6-1d6793162c6b"	"2024-04-21"
"GENCC_000102-HGNC_26901-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:26901"	"OTOGL"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26901"	"OTOGL"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28b962a1-8394-4366-8746-4b71a59cd60b-2018-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"28b962a1-8394-4366-8746-4b71a59cd60b"	"2024-04-21"
"GENCC_000102-HGNC_20718-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:20718"	"OTUD7A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20718"	"OTUD7A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-06-06 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d6ba704-2333-4f70-9f74-54dfea711e5b-2023-06-06T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7d6ba704-2333-4f70-9f74-54dfea711e5b"	"2024-04-21"
"GENCC_000102-HGNC_15459-MONDO_0019497-HP_0000006-GENCC_100003"	"HGNC:15459"	"P2RX2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15459"	"P2RX2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1dae6b6-4ed7-4c5a-ba4e-bcfaba026be8-2022-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c1dae6b6-4ed7-4c5a-ba4e-bcfaba026be8"	"2024-04-21"
"GENCC_000102-HGNC_18124-MONDO_0012354-HP_0000007-GENCC_100003"	"HGNC:18124"	"P2RY12"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18124"	"P2RY12"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b61af44-1fb4-4c7d-94b2-f21903793162-2023-04-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6b61af44-1fb4-4c7d-94b2-f21903793162"	"2024-04-21"
"GENCC_000102-HGNC_18124-MONDO_0012354-HP_0000006-GENCC_100003"	"HGNC:18124"	"P2RY12"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18124"	"P2RY12"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81c56aba-1414-4365-a8de-847c080251f3-2023-04-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"81c56aba-1414-4365-a8de-847c080251f3"	"2024-04-21"
"GENCC_000102-HGNC_30032-MONDO_0014006-HP_0000006-GENCC_100001"	"HGNC:30032"	"PACS1"	"MONDO:0014006"	"Schuurs-Hoeijmakers syndrome"	"MONDO:0014006"	"Schuurs-Hoeijmakers syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30032"	"PACS1"	"MONDO:0014006"	"Schuurs-Hoeijmakers syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-26 18:27:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5fb6cba-cff6-4498-a725-3f863a910cf1-2020-06-26T182716.855Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f5fb6cba-cff6-4498-a725-3f863a910cf1"	"2024-04-21"
"GENCC_000102-HGNC_8582-MONDO_0009861-HP_0000007-GENCC_100001"	"HGNC:8582"	"PAH"	"MONDO:0009861"	"phenylketonuria"	"MONDO:0009861"	"phenylketonuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8582"	"PAH"	"MONDO:0009861"	"phenylketonuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a617cb4-94ec-4f34-b97e-10d9808a1581-2020-04-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5a617cb4-94ec-4f34-b97e-10d9808a1581"	"2024-04-21"
"GENCC_000102-HGNC_8592-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:8592"	"PAK3"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8592"	"PAK3"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-31 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2f13863-a52d-49bd-b7f6-294edd73717a-2018-07-31T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c2f13863-a52d-49bd-b7f6-294edd73717a"	"2024-04-21"
"GENCC_000102-HGNC_26144-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:26144"	"PALB2"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26144"	"PALB2"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-03-12 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10073"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10073"	"2024-04-21"
"GENCC_000102-HGNC_26144-MONDO_0016419-HP_0000006-GENCC_100001"	"HGNC:26144"	"PALB2"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26144"	"PALB2"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-12-01 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3213"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3213"	"2024-04-21"
"GENCC_000102-HGNC_26144-MONDO_0016248-HP_0000006-GENCC_100003"	"HGNC:26144"	"PALB2"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26144"	"PALB2"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2017-11-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9940"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9940"	"2024-04-21"
"GENCC_000102-HGNC_26144-MONDO_0012565-HP_0000007-GENCC_100001"	"HGNC:26144"	"PALB2"	"MONDO:0012565"	"Fanconi anemia complementation group N"	"MONDO:0012565"	"Fanconi anemia complementation group N"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26144"	"PALB2"	"MONDO:0012565"	"Fanconi anemia complementation group N"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-08-18 16:03:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ebabbf1-1a43-4a57-b0b8-2b29bb57ade1-2019-08-18T160312.829Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ebabbf1-1a43-4a57-b0b8-2b29bb57ade1"	"2024-04-21"
"GENCC_000102-HGNC_16369-MONDO_0005180-HP_0000007-GENCC_100001"	"HGNC:16369"	"PARK7"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16369"	"PARK7"	"MONDO:0005180"	"Parkinson disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d79439d2-844b-4ba6-aceb-e6b179eaaa01-2022-06-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d79439d2-844b-4ba6-aceb-e6b179eaaa01"	"2024-04-21"
"GENCC_000102-HGNC_30563-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:30563"	"PARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30563"	"PARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8d59b26-84ba-413d-a79f-27903c863356-2022-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b8d59b26-84ba-413d-a79f-27903c863356"	"2024-04-21"
"GENCC_000102-HGNC_8615-MONDO_0014254-HP_0000007-GENCC_100001"	"HGNC:8615"	"PAX1"	"MONDO:0014254"	"otofaciocervical syndrome 2"	"MONDO:0014254"	"otofaciocervical syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8615"	"PAX1"	"MONDO:0014254"	"otofaciocervical syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-16 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29856f7d-7c10-48cc-a74f-b014c56c4f0c-2023-11-16T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29856f7d-7c10-48cc-a74f-b014c56c4f0c"	"2024-04-21"
"GENCC_000102-HGNC_8616-MONDO_0014451-HP_0000006-GENCC_100001"	"HGNC:8616"	"PAX2"	"MONDO:0014451"	"focal segmental glomerulosclerosis 7"	"MONDO:0014451"	"focal segmental glomerulosclerosis 7"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8616"	"PAX2"	"MONDO:0014451"	"focal segmental glomerulosclerosis 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-13 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed6df631-4153-4f76-9bdd-073ed4cb68a2-2021-09-13T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ed6df631-4153-4f76-9bdd-073ed4cb68a2"	"2024-04-21"
"GENCC_000102-HGNC_8617-MONDO_0018094-HP_0000006-GENCC_100001"	"HGNC:8617"	"PAX3"	"MONDO:0018094"	"Waardenburg syndrome"	"MONDO:0018094"	"Waardenburg syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8617"	"PAX3"	"MONDO:0018094"	"Waardenburg syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-15 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_594ef026-3730-43bc-b721-d15cf0bbbf26-2017-11-15T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"594ef026-3730-43bc-b721-d15cf0bbbf26"	"2024-04-21"
"GENCC_000102-HGNC_8618-MONDO_0015967-HP_0000006-GENCC_100006"	"HGNC:8618"	"PAX4"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8618"	"PAX4"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2022-12-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2e54103-c1c4-4095-8a12-d602e5326d90-2022-12-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e2e54103-c1c4-4095-8a12-d602e5326d90"	"2024-04-21"
"GENCC_000102-HGNC_8619-MONDO_0100299-HP_0000007-GENCC_100003"	"HGNC:8619"	"PAX5"	"MONDO:0100299"	"PAX5-related B lymphopenia and autism spectrum disorder"	"MONDO:0100299"	"PAX5-related B lymphopenia and autism spectrum disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8619"	"PAX5"	"MONDO:0100299"	"PAX5-related B lymphopenia and autism spectrum disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-02-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_111b7453-55ff-4638-9cb7-1936400ec2a4-2023-02-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"111b7453-55ff-4638-9cb7-1936400ec2a4"	"2024-04-21"
"GENCC_000102-HGNC_8620-MONDO_0800183-HP_0000006-GENCC_100001"	"HGNC:8620"	"PAX6"	"MONDO:0800183"	"PAX6-related ocular dysgenesis"	"MONDO:0800183"	"PAX6-related ocular dysgenesis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8620"	"PAX6"	"MONDO:0800183"	"PAX6-related ocular dysgenesis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e83f7da-f70f-4f06-a9f9-52bd20219088-2022-06-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e83f7da-f70f-4f06-a9f9-52bd20219088"	"2024-04-21"
"GENCC_000102-HGNC_8621-MONDO_0018528-HP_0000007-GENCC_100003"	"HGNC:8621"	"PAX7"	"MONDO:0018528"	"congenital myopathy with myasthenic-like onset"	"MONDO:0018528"	"congenital myopathy with myasthenic-like onset"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8621"	"PAX7"	"MONDO:0018528"	"congenital myopathy with myasthenic-like onset"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-07-27 14:53:21"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_684596b8-b8c4-40e5-8ab6-8b23cac49be5-2021-07-27T145321.701Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"684596b8-b8c4-40e5-8ab6-8b23cac49be5"	"2024-04-21"
"GENCC_000102-HGNC_8632-MONDO_0060549-HP_0000006-GENCC_100001"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8632"	"PBX1"	"MONDO:0060549"	"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28186515-9751-4137-a631-5addc51461b9-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"28186515-9751-4137-a631-5addc51461b9"	"2024-04-21"
"GENCC_000102-HGNC_34383-MONDO_0800404-HP_0000007-GENCC_100001"	"HGNC:34383"	"PCARE"	"MONDO:0800404"	"PCARE-related retinopathy"	"MONDO:0800404"	"PCARE-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:34383"	"PCARE"	"MONDO:0800404"	"PCARE-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afbc5168-51f6-4f69-bf41-41b9a1d9d665-2022-10-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"afbc5168-51f6-4f69-bf41-41b9a1d9d665"	"2024-04-21"
"GENCC_000102-HGNC_8646-MONDO_0009908-HP_0000007-GENCC_100001"	"HGNC:8646"	"PCBD1"	"MONDO:0009908"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"MONDO:0009908"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8646"	"PCBD1"	"MONDO:0009908"	"pterin-4 alpha-carbinolamine dehydratase 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d305c30f-50c1-491a-846f-4af6a2ad8aff-2021-07-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d305c30f-50c1-491a-846f-4af6a2ad8aff"	"2024-04-21"
"GENCC_000102-HGNC_8653-MONDO_0011628-HP_0000007-GENCC_100001"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"propionic acidemia"	"MONDO:0011628"	"propionic acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8653"	"PCCA"	"MONDO:0011628"	"propionic acidemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32a55e25-8632-4f31-84af-3eaf8098ca18-2018-12-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"32a55e25-8632-4f31-84af-3eaf8098ca18"	"2024-04-21"
"GENCC_000102-HGNC_8654-MONDO_0011628-HP_0000007-GENCC_100001"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"propionic acidemia"	"MONDO:0011628"	"propionic acidemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8654"	"PCCB"	"MONDO:0011628"	"propionic acidemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cd49a9b-08c2-49db-8e97-e334f171e34d-2018-12-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1cd49a9b-08c2-49db-8e97-e334f171e34d"	"2024-04-21"
"GENCC_000102-HGNC_14674-MONDO_0010168-HP_0000007-GENCC_100001"	"HGNC:14674"	"PCDH15"	"MONDO:0010168"	"Usher syndrome type 1"	"MONDO:0010168"	"Usher syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14674"	"PCDH15"	"MONDO:0010168"	"Usher syndrome type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-15 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5657"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5657"	"2024-04-21"
"GENCC_000102-HGNC_14674-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:14674"	"PCDH15"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14674"	"PCDH15"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-06-19 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48910592-40d6-4eb7-a53c-4b0883070287-2018-06-19T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"48910592-40d6-4eb7-a53c-4b0883070287"	"2024-04-21"
"GENCC_000102-HGNC_14270-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:14270"	"PCDH19"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:14270"	"PCDH19"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c00aad39-c6c4-4a46-af84-613592b166a3-2018-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c00aad39-c6c4-4a46-af84-613592b166a3"	"2024-04-21"
"GENCC_000102-HGNC_12929-MONDO_0032707-HP_0000006-GENCC_100002"	"HGNC:12929"	"PCGF2"	"MONDO:0032707"	"turnpenny-fry syndrome"	"MONDO:0032707"	"turnpenny-fry syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12929"	"PCGF2"	"MONDO:0032707"	"turnpenny-fry syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-04-08 07:42:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58b289b7-f842-4a32-a1fa-2777455fbd27-2022-04-08T074229.379Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"58b289b7-f842-4a32-a1fa-2777455fbd27"	"2024-04-21"
"GENCC_000102-HGNC_20001-MONDO_0011369-HP_0000006-GENCC_100001"	"HGNC:20001"	"PCSK9"	"MONDO:0011369"	"hypercholesterolemia, autosomal dominant, 3"	"MONDO:0011369"	"hypercholesterolemia, autosomal dominant, 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20001"	"PCSK9"	"MONDO:0011369"	"hypercholesterolemia, autosomal dominant, 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf710ddc-c189-419f-ab70-25300b067db2-2018-11-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bf710ddc-c189-419f-ab70-25300b067db2"	"2024-04-21"
"GENCC_000102-HGNC_8754-MONDO_0012160-HP_0000007-GENCC_100001"	"HGNC:8754"	"PCYT1A"	"MONDO:0012160"	"spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	"MONDO:0012160"	"spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8754"	"PCYT1A"	"MONDO:0012160"	"spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-26 18:37:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eff306ea-95ff-4b4e-8597-f50849b1b4c2-2021-07-26T183711.748Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eff306ea-95ff-4b4e-8597-f50849b1b4c2"	"2024-04-21"
"GENCC_000102-HGNC_8785-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:8785"	"PDE6A"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8785"	"PDE6A"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_165bc0fc-d0ce-4a74-a953-8d4687fbaa96-2022-12-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"165bc0fc-d0ce-4a74-a953-8d4687fbaa96"	"2024-04-21"
"GENCC_000102-HGNC_8787-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:8787"	"PDE6C"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8787"	"PDE6C"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73ed48ac-bdd6-4608-953d-773da6ade759-2023-11-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"73ed48ac-bdd6-4608-953d-773da6ade759"	"2024-04-21"
"GENCC_000102-HGNC_30620-MONDO_0015924-HP_0000006-GENCC_100004"	"HGNC:30620"	"PDGFD"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30620"	"PDGFD"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5da6fc7-e3a0-4de1-b69d-b86f312b48a1-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a5da6fc7-e3a0-4de1-b69d-b86f312b48a1"	"2024-04-21"
"GENCC_000102-HGNC_8803-MONDO_0011719-HP_0000006-GENCC_100001"	"HGNC:8803"	"PDGFRA"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8803"	"PDGFRA"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-13 19:55:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08bbf13f-bc04-47a7-a3c5-1ec6abfc9190-2020-01-13T195509.878Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"08bbf13f-bc04-47a7-a3c5-1ec6abfc9190"	"2024-04-21"
"GENCC_000102-HGNC_8803-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:8803"	"PDGFRA"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8803"	"PDGFRA"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40d874e-0c34-4ff6-8145-4b310a67a033-2024-03-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f40d874e-0c34-4ff6-8145-4b310a67a033"	"2024-04-21"
"GENCC_000102-HGNC_8806-MONDO_0009723-HP_0001417-GENCC_100001"	"HGNC:8806"	"PDHA1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8806"	"PDHA1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-08 16:12:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a579324c-3586-4636-9192-c2ea29391a4e-2019-04-08T161203.224Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a579324c-3586-4636-9192-c2ea29391a4e"	"2024-04-21"
"GENCC_000102-HGNC_8808-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:8808"	"PDHB"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8808"	"PDHB"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-03-11 17:28:53"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_133f688f-b498-4f5e-bd9b-b3406880ddd4-2021-03-11T172853.362Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"133f688f-b498-4f5e-bd9b-b3406880ddd4"	"2024-04-21"
"GENCC_000102-HGNC_21350-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:21350"	"PDHX"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21350"	"PDHX"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-11 17:42:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3608ac5e-4b1f-4bb5-aa0c-cc42a2262304-2021-03-11T174226.092Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3608ac5e-4b1f-4bb5-aa0c-cc42a2262304"	"2024-04-21"
"GENCC_000102-HGNC_8811-MONDO_0010479-HP_0001417-GENCC_100001"	"HGNC:8811"	"PDK3"	"MONDO:0010479"	"Charcot-Marie-Tooth disease X-linked dominant 6"	"MONDO:0010479"	"Charcot-Marie-Tooth disease X-linked dominant 6"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:8811"	"PDK3"	"MONDO:0010479"	"Charcot-Marie-Tooth disease X-linked dominant 6"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_508a1db7-0cf1-4c28-9203-89a3f4d7438d-2024-03-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"508a1db7-0cf1-4c28-9203-89a3f4d7438d"	"2024-04-21"
"GENCC_000102-HGNC_20767-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:20767"	"PDLIM3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20767"	"PDLIM3"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-23 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76cba060-8080-42b1-b9ea-2193fea658b0-2023-02-23T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"76cba060-8080-42b1-b9ea-2193fea658b0"	"2024-04-21"
"GENCC_000102-HGNC_20767-MONDO_0005021-HP_0000006-GENCC_100005"	"HGNC:20767"	"PDLIM3"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20767"	"PDLIM3"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-09-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78f8d362-f690-4319-912f-1bdceceacccd-2020-09-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"78f8d362-f690-4319-912f-1bdceceacccd"	"2024-04-21"
"GENCC_000102-HGNC_23041-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:23041"	"PDSS2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23041"	"PDSS2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-03-11 17:23:36"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0928f3-2b7d-4622-bc96-68a4d0078826-2021-03-11T172336.036Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5e0928f3-2b7d-4622-bc96-68a4d0078826"	"2024-04-21"
"GENCC_000102-HGNC_6107-MONDO_0015967-HP_0000006-GENCC_100003"	"HGNC:6107"	"PDX1"	"MONDO:0015967"	"monogenic diabetes"	"MONDO:0015967"	"monogenic diabetes"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6107"	"PDX1"	"MONDO:0015967"	"monogenic diabetes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5487c912-a653-411d-b640-a51c60f51fa6-2022-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5487c912-a653-411d-b640-a51c60f51fa6"	"2024-04-21"
"GENCC_000102-HGNC_6107-MONDO_0024547-HP_0000007-GENCC_100001"	"HGNC:6107"	"PDX1"	"MONDO:0024547"	"pancreatic agenesis 1"	"MONDO:0024547"	"pancreatic agenesis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:6107"	"PDX1"	"MONDO:0024547"	"pancreatic agenesis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76ea8c1e-88ba-436a-8eca-0de131027033-2022-06-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"76ea8c1e-88ba-436a-8eca-0de131027033"	"2024-04-21"
"GENCC_000102-HGNC_26257-MONDO_0019588-HP_0000007-GENCC_100001"	"HGNC:26257"	"PDZD7"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26257"	"PDZD7"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-04-26 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8406"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8406"	"2024-04-21"
"GENCC_000102-HGNC_40038-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:40038"	"PET100"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:40038"	"PET100"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-05-20 19:13:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33c546f5-a285-424b-9ae2-9ca4fc718c67-2019-05-20T191347.510Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"33c546f5-a285-424b-9ae2-9ca4fc718c67"	"2024-04-21"
"GENCC_000102-HGNC_40045-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:40045"	"PET117"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:40045"	"PET117"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-05-20 19:18:05"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69d9bbe0-ba3f-44f0-b340-d6d824cb969f-2019-05-20T191805.361Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"69d9bbe0-ba3f-44f0-b340-d6d824cb969f"	"2024-04-21"
"GENCC_000102-HGNC_8850-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8850"	"PEX1"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8850"	"PEX1"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a345ba65-9dcd-43dd-a1c2-1778c1a921ea-2023-09-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a345ba65-9dcd-43dd-a1c2-1778c1a921ea"	"2024-04-21"
"GENCC_000102-HGNC_8851-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8851"	"PEX10"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8851"	"PEX10"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-12-06 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0f7f094-ac3b-4309-ad8f-8e604f006485-2019-12-06T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c0f7f094-ac3b-4309-ad8f-8e604f006485"	"2024-04-21"
"GENCC_000102-HGNC_8852-MONDO_0019234-HP_0000007-GENCC_100008"	"HGNC:8852"	"PEX11A"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8852"	"PEX11A"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2020-07-17 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f83cdb0-7fca-4bc5-b896-3201000364f9-2020-07-17T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9f83cdb0-7fca-4bc5-b896-3201000364f9"	"2024-04-21"
"GENCC_000102-HGNC_8853-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8853"	"PEX11B"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8853"	"PEX11B"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93eacb33-b099-485d-bf8a-782479dc0a3b-2020-01-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93eacb33-b099-485d-bf8a-782479dc0a3b"	"2024-04-21"
"GENCC_000102-HGNC_20208-MONDO_0019234-HP_0000007-GENCC_100008"	"HGNC:20208"	"PEX11G"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20208"	"PEX11G"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2020-08-06 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_932d75de-89f1-4ba6-8a2a-05f53ecdf097-2020-08-06T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"932d75de-89f1-4ba6-8a2a-05f53ecdf097"	"2024-04-21"
"GENCC_000102-HGNC_8854-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8854"	"PEX12"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8854"	"PEX12"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-12-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_124c97b0-92ed-4921-a0b9-2ff33135139d-2019-12-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"124c97b0-92ed-4921-a0b9-2ff33135139d"	"2024-04-21"
"GENCC_000102-HGNC_8855-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8855"	"PEX13"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8855"	"PEX13"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c662669-4eb8-45e3-8540-c394ea40c1b2-2019-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0c662669-4eb8-45e3-8540-c394ea40c1b2"	"2024-04-21"
"GENCC_000102-HGNC_8856-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8856"	"PEX14"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8856"	"PEX14"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_846efcc3-5456-4db3-9bc2-e441acb768cd-2019-09-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"846efcc3-5456-4db3-9bc2-e441acb768cd"	"2024-04-21"
"GENCC_000102-HGNC_8857-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8857"	"PEX16"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8857"	"PEX16"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7506d938-efb4-416c-aafd-221251d00e6e-2020-01-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7506d938-efb4-416c-aafd-221251d00e6e"	"2024-04-21"
"GENCC_000102-HGNC_9713-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:9713"	"PEX19"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9713"	"PEX19"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa073c77-0623-4e82-b5b2-9fcd0eb0dc6e-2023-04-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fa073c77-0623-4e82-b5b2-9fcd0eb0dc6e"	"2024-04-21"
"GENCC_000102-HGNC_9717-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:9717"	"PEX2"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9717"	"PEX2"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17bf1c4a-1775-40c6-a499-774c93827343-2020-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"17bf1c4a-1775-40c6-a499-774c93827343"	"2024-04-21"
"GENCC_000102-HGNC_22965-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:22965"	"PEX26"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:22965"	"PEX26"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf6af95e-6696-420c-8731-d2e37ca6e692-2020-02-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bf6af95e-6696-420c-8731-d2e37ca6e692"	"2024-04-21"
"GENCC_000102-HGNC_8858-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8858"	"PEX3"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8858"	"PEX3"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d53df483-c31a-4672-8a11-04d33d6df336-2019-11-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d53df483-c31a-4672-8a11-04d33d6df336"	"2024-04-21"
"GENCC_000102-HGNC_9719-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:9719"	"PEX5"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9719"	"PEX5"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b49d9cfd-0e51-4219-84bb-76b4c9b99fa9-2020-01-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b49d9cfd-0e51-4219-84bb-76b4c9b99fa9"	"2024-04-21"
"GENCC_000102-HGNC_8859-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8859"	"PEX6"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8859"	"PEX6"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54df6fb2-b692-4ece-a525-ae0cfe243826-2019-09-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"54df6fb2-b692-4ece-a525-ae0cfe243826"	"2024-04-21"
"GENCC_000102-HGNC_8860-MONDO_0019234-HP_0000007-GENCC_100001"	"HGNC:8860"	"PEX7"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8860"	"PEX7"	"MONDO:0019234"	"peroxisome biogenesis disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0796d69-b304-4670-b4a2-8785ff6fd161-2020-02-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d0796d69-b304-4670-b4a2-8785ff6fd161"	"2024-04-21"
"GENCC_000102-HGNC_8881-MONDO_0013891-HP_0000006-GENCC_100001"	"HGNC:8881"	"PFN1"	"MONDO:0013891"	"amyotrophic lateral sclerosis type 18"	"MONDO:0013891"	"amyotrophic lateral sclerosis type 18"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8881"	"PFN1"	"MONDO:0013891"	"amyotrophic lateral sclerosis type 18"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_948de40f-2cef-4235-ae87-491c01ffe803-2021-04-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"948de40f-2cef-4235-ae87-491c01ffe803"	"2024-04-21"
"GENCC_000102-HGNC_23719-MONDO_0014318-HP_0000007-GENCC_100001"	"HGNC:23719"	"PGAP3"	"MONDO:0014318"	"hyperphosphatasia with intellectual disability syndrome 4"	"MONDO:0014318"	"hyperphosphatasia with intellectual disability syndrome 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23719"	"PGAP3"	"MONDO:0014318"	"hyperphosphatasia with intellectual disability syndrome 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-05 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c63978db-fe31-489a-985c-6b353f0d5243-2023-09-05T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c63978db-fe31-489a-985c-6b353f0d5243"	"2024-04-21"
"GENCC_000102-HGNC_24156-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:24156"	"PHF21A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24156"	"PHF21A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1312f4b-fcc2-46ca-9132-7592e46ae05f-2022-04-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a1312f4b-fcc2-46ca-9132-7592e46ae05f"	"2024-04-21"
"GENCC_000102-HGNC_18145-MONDO_0010537-HP_0001417-GENCC_100001"	"HGNC:18145"	"PHF6"	"MONDO:0010537"	"Borjeson-Forssman-Lehmann syndrome"	"MONDO:0010537"	"Borjeson-Forssman-Lehmann syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:18145"	"PHF6"	"MONDO:0010537"	"Borjeson-Forssman-Lehmann syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-02-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94ea5014-0a83-49ea-b001-fc2a8c24c0d9-2018-02-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"94ea5014-0a83-49ea-b001-fc2a8c24c0d9"	"2024-04-21"
"GENCC_000102-HGNC_20672-MONDO_0010286-HP_0001417-GENCC_100001"	"HGNC:20672"	"PHF8"	"MONDO:0010286"	"syndromic X-linked intellectual disability Siderius type"	"MONDO:0010286"	"syndromic X-linked intellectual disability Siderius type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:20672"	"PHF8"	"MONDO:0010286"	"syndromic X-linked intellectual disability Siderius type"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9e94640-1950-4438-bcda-4859545d83d1-2018-11-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b9e94640-1950-4438-bcda-4859545d83d1"	"2024-04-21"
"GENCC_000102-HGNC_8923-MONDO_0018162-HP_0000007-GENCC_100001"	"HGNC:8923"	"PHGDH"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8923"	"PHGDH"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:43:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1b4e8da-d6e7-4494-abb0-f2953548a722-2020-06-29T174326.589Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1b4e8da-d6e7-4494-abb0-f2953548a722"	"2024-04-21"
"GENCC_000102-HGNC_15673-MONDO_0035133-HP_0000006-GENCC_100001"	"HGNC:15673"	"PHIP"	"MONDO:0035133"	"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"	"MONDO:0035133"	"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15673"	"PHIP"	"MONDO:0035133"	"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0635f61b-d8aa-428a-b4d3-0b2d116ece39-2022-04-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0635f61b-d8aa-428a-b4d3-0b2d116ece39"	"2024-04-21"
"GENCC_000102-HGNC_8927-MONDO_0009868-HP_0000007-GENCC_100001"	"HGNC:8927"	"PHKB"	"MONDO:0009868"	"glycogen storage disease IXb"	"MONDO:0009868"	"glycogen storage disease IXb"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8927"	"PHKB"	"MONDO:0009868"	"glycogen storage disease IXb"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-17 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bc221ef-fafa-41c6-9b59-fab2b34241c4-2024-03-17T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0bc221ef-fafa-41c6-9b59-fab2b34241c4"	"2024-04-21"
"GENCC_000102-HGNC_9143-MONDO_0020493-HP_0000006-GENCC_100001"	"HGNC:9143"	"PHOX2B"	"MONDO:0020493"	"Haddad syndrome"	"MONDO:0020493"	"Haddad syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9143"	"PHOX2B"	"MONDO:0020493"	"Haddad syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-15 15:29:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07133a39-00fb-43c4-a7e2-a465c3c0c4ca-2021-06-15T152906.892Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"07133a39-00fb-43c4-a7e2-a465c3c0c4ca"	"2024-04-21"
"GENCC_000102-HGNC_9143-MONDO_0800026-HP_0000006-GENCC_100001"	"HGNC:9143"	"PHOX2B"	"MONDO:0800026"	"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"MONDO:0800026"	"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9143"	"PHOX2B"	"MONDO:0800026"	"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ed68efa-cafc-4e28-ab56-ab9b65666c15-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5ed68efa-cafc-4e28-ab56-ab9b65666c15"	"2024-04-21"
"GENCC_000102-HGNC_8940-MONDO_0100258-HP_0000007-GENCC_100001"	"HGNC:8940"	"PHYH"	"MONDO:0100258"	"phytanoyl-CoA hydroxylase deficiency"	"MONDO:0100258"	"phytanoyl-CoA hydroxylase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8940"	"PHYH"	"MONDO:0100258"	"phytanoyl-CoA hydroxylase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-07 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c50f8ab-65d8-493d-a800-52af1fa13339-2020-02-07T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8c50f8ab-65d8-493d-a800-52af1fa13339"	"2024-04-21"
"GENCC_000102-HGNC_28249-MONDO_0014008-HP_0000007-GENCC_100004"	"HGNC:28249"	"PHYKPL"	"MONDO:0014008"	"phosphohydroxylysinuria"	"MONDO:0014008"	"phosphohydroxylysinuria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28249"	"PHYKPL"	"MONDO:0014008"	"phosphohydroxylysinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82ba1358-e58c-4187-bbe7-0f1bf41267d0-2023-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"82ba1358-e58c-4187-bbe7-0f1bf41267d0"	"2024-04-21"
"GENCC_000102-HGNC_23352-MONDO_0005308-HP_0000007-GENCC_100003"	"HGNC:23352"	"PIBF1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23352"	"PIBF1"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf72e5f0-a64d-4fb9-9a9b-07fef481bf56-2023-09-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bf72e5f0-a64d-4fb9-9a9b-07fef481bf56"	"2024-04-21"
"GENCC_000102-HGNC_28993-MONDO_0008689-HP_0000006-GENCC_100002"	"HGNC:28993"	"PIEZO1"	"MONDO:0008689"	"dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"MONDO:0008689"	"dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:28993"	"PIEZO1"	"MONDO:0008689"	"dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-07-02 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a86cb1d-4eed-4c10-971f-4a9578cb12b1-2023-07-02T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6a86cb1d-4eed-4c10-971f-4a9578cb12b1"	"2024-04-21"
"GENCC_000102-HGNC_28993-MONDO_0035474-HP_0000007-GENCC_100001"	"HGNC:28993"	"PIEZO1"	"MONDO:0035474"	"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"	"MONDO:0035474"	"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28993"	"PIEZO1"	"MONDO:0035474"	"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d37d7a52-269b-4a45-b28e-c6cbdfd7d94e-2023-07-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d37d7a52-269b-4a45-b28e-c6cbdfd7d94e"	"2024-04-21"
"GENCC_000102-HGNC_8966-MONDO_0000508-HP_0000007-GENCC_100001"	"HGNC:8966"	"PIGL"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8966"	"PIGL"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-07 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c33f1e7-bad5-4f88-93e8-02d21e7e1850-2022-12-07T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7c33f1e7-bad5-4f88-93e8-02d21e7e1850"	"2024-04-21"
"GENCC_000102-HGNC_8967-MONDO_0013563-HP_0000007-GENCC_100001"	"HGNC:8967"	"PIGN"	"MONDO:0013563"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"MONDO:0013563"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8967"	"PIGN"	"MONDO:0013563"	"multiple congenital anomalies-hypotonia-seizures syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-28 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_252393aa-6a56-483e-a353-6dbe2cd99e84-2022-04-28T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"252393aa-6a56-483e-a353-6dbe2cd99e84"	"2024-04-21"
"GENCC_000102-HGNC_23215-MONDO_0100038-HP_0000007-GENCC_100001"	"HGNC:23215"	"PIGO"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23215"	"PIGO"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-10-21 00:46:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_830b11ca-6ec1-4aa9-bb44-379f03f738c7-2021-10-21T004641.341Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"830b11ca-6ec1-4aa9-bb44-379f03f738c7"	"2024-04-21"
"GENCC_000102-HGNC_15791-MONDO_0032824-HP_0000007-GENCC_100004"	"HGNC:15791"	"PIGU"	"MONDO:0032824"	"glycosylphosphatidylinositol biosynthesis defect 21"	"MONDO:0032824"	"glycosylphosphatidylinositol biosynthesis defect 21"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15791"	"PIGU"	"MONDO:0032824"	"glycosylphosphatidylinositol biosynthesis defect 21"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-06-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06c208ae-ed82-4b3e-88b6-a9a144ef7775-2022-06-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"06c208ae-ed82-4b3e-88b6-a9a144ef7775"	"2024-04-21"
"GENCC_000102-HGNC_8975-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:8975"	"PIK3CA"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8975"	"PIK3CA"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-02-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8694"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8694"	"2024-04-21"
"GENCC_000102-HGNC_8975-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:8975"	"PIK3CA"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8975"	"PIK3CA"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ce3540a-5a7f-4f47-aeb3-520767016539-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7ce3540a-5a7f-4f47-aeb3-520767016539"	"2024-04-21"
"GENCC_000102-HGNC_8975-MONDO_0100283-HP_0000006-GENCC_100001"	"HGNC:8975"	"PIK3CA"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8975"	"PIK3CA"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-29 21:31:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c670e6ce-97b6-4383-bea6-5c216ab2a4a0-2021-07-29T213157.366Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c670e6ce-97b6-4383-bea6-5c216ab2a4a0"	"2024-04-21"
"GENCC_000102-HGNC_8977-MONDO_0023655-HP_0000007-GENCC_100001"	"HGNC:8977"	"PIK3CD"	"MONDO:0023655"	"immunodeficiency 14b, autosomal recessive"	"MONDO:0023655"	"immunodeficiency 14b, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8977"	"PIK3CD"	"MONDO:0023655"	"immunodeficiency 14b, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-19 19:25:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00e2cc94-311b-44d8-9c41-e41c12ebd8f2-2022-04-19T192558.184Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"00e2cc94-311b-44d8-9c41-e41c12ebd8f2"	"2024-04-21"
"GENCC_000102-HGNC_8977-MONDO_0014222-HP_0000006-GENCC_100001"	"HGNC:8977"	"PIK3CD"	"MONDO:0014222"	"immunodeficiency 14"	"MONDO:0014222"	"immunodeficiency 14"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8977"	"PIK3CD"	"MONDO:0014222"	"immunodeficiency 14"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-19 15:05:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c37954fd-7d7c-4ca9-9cd0-7681c1edf8d3-2022-04-19T150547.546Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c37954fd-7d7c-4ca9-9cd0-7681c1edf8d3"	"2024-04-21"
"GENCC_000102-HGNC_8978-MONDO_0030717-HP_0000007-GENCC_100003"	"HGNC:8978"	"PIK3CG"	"MONDO:0030717"	"immunodeficiency 97 with autoinflammation"	"MONDO:0030717"	"immunodeficiency 97 with autoinflammation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8978"	"PIK3CG"	"MONDO:0030717"	"immunodeficiency 97 with autoinflammation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c042f849-508e-4125-be10-cfa6750408ef-2023-07-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c042f849-508e-4125-be10-cfa6750408ef"	"2024-04-21"
"GENCC_000102-HGNC_8979-MONDO_0014453-HP_0000006-GENCC_100001"	"HGNC:8979"	"PIK3R1"	"MONDO:0014453"	"immunodeficiency 36"	"MONDO:0014453"	"immunodeficiency 36"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8979"	"PIK3R1"	"MONDO:0014453"	"immunodeficiency 36"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-22 19:51:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40c5f722-d25e-46b1-8a52-c407d1c64e63-2021-07-22T195122.034Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"40c5f722-d25e-46b1-8a52-c407d1c64e63"	"2024-04-21"
"GENCC_000102-HGNC_8979-MONDO_0014083-HP_0000007-GENCC_100004"	"HGNC:8979"	"PIK3R1"	"MONDO:0014083"	"agammaglobulinemia 7, autosomal recessive"	"MONDO:0014083"	"agammaglobulinemia 7, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8979"	"PIK3R1"	"MONDO:0014083"	"agammaglobulinemia 7, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-05-20 15:34:38"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e019aaad-09a8-44c4-9fc0-12a1d53e79db-2021-05-20T153438.351Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e019aaad-09a8-44c4-9fc0-12a1d53e79db"	"2024-04-21"
"GENCC_000102-HGNC_8980-MONDO_0100283-HP_0000006-GENCC_100001"	"HGNC:8980"	"PIK3R2"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8980"	"PIK3R2"	"MONDO:0100283"	"overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-29 21:36:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc9a451e-0e75-47d2-a090-a2409732c465-2021-07-29T213616.452Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fc9a451e-0e75-47d2-a090-a2409732c465"	"2024-04-21"
"GENCC_000102-HGNC_14581-MONDO_0005180-HP_0000007-GENCC_100001"	"HGNC:14581"	"PINK1"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14581"	"PINK1"	"MONDO:0005180"	"Parkinson disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-18 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1999e6c4-eb15-438a-a4ea-98989112dcbb-2023-01-18T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1999e6c4-eb15-438a-a4ea-98989112dcbb"	"2024-04-21"
"GENCC_000102-HGNC_29502-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:29502"	"PJVK"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29502"	"PJVK"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-19 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3e304c3-33fd-41ec-81f9-1c0725a5549f-2017-12-19T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b3e304c3-33fd-41ec-81f9-1c0725a5549f"	"2024-04-21"
"GENCC_000102-HGNC_9008-MONDO_0004691-HP_0000006-GENCC_100001"	"HGNC:9008"	"PKD1"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9008"	"PKD1"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-26 15:13:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09d61dec-314b-4c5f-af2e-f22fc5992c12-2021-02-26T151356.823Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"09d61dec-314b-4c5f-af2e-f22fc5992c12"	"2024-04-21"
"GENCC_000102-HGNC_9008-MONDO_0009889-HP_0000007-GENCC_100001"	"HGNC:9008"	"PKD1"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9008"	"PKD1"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d38c5bda-7182-403f-a99b-4f8492afb24f-2023-01-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d38c5bda-7182-403f-a99b-4f8492afb24f"	"2024-04-21"
"GENCC_000102-HGNC_9009-MONDO_0004691-HP_0000006-GENCC_100001"	"HGNC:9009"	"PKD2"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9009"	"PKD2"	"MONDO:0004691"	"autosomal dominant polycystic kidney disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae0ae123-be04-4ba2-b685-594ca47a3467-2023-12-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ae0ae123-be04-4ba2-b685-594ca47a3467"	"2024-04-21"
"GENCC_000102-HGNC_9016-MONDO_0009889-HP_0000007-GENCC_100001"	"HGNC:9016"	"PKHD1"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9016"	"PKHD1"	"MONDO:0009889"	"autosomal recessive polycystic kidney disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-11 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06fb7576-e842-4e52-9284-0762bb7a05c6-2020-11-11T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"06fb7576-e842-4e52-9284-0762bb7a05c6"	"2024-04-21"
"GENCC_000102-HGNC_9020-MONDO_0009950-HP_0000007-GENCC_100001"	"HGNC:9020"	"PKLR"	"MONDO:0009950"	"pyruvate kinase deficiency of red cells"	"MONDO:0009950"	"pyruvate kinase deficiency of red cells"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9020"	"PKLR"	"MONDO:0009950"	"pyruvate kinase deficiency of red cells"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35a6386b-dc76-4382-b3a9-2e67c1407bc2-2024-02-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"35a6386b-dc76-4382-b3a9-2e67c1407bc2"	"2024-04-21"
"GENCC_000102-HGNC_9024-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:9024"	"PKP2"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9024"	"PKP2"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10156"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10156"	"2024-04-21"
"GENCC_000102-HGNC_9024-MONDO_0017990-HP_0000006-GENCC_100005"	"HGNC:9024"	"PKP2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9024"	"PKP2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1231ec3b-3570-48dd-bea4-f7cd7fc54811-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1231ec3b-3570-48dd-bea4-f7cd7fc54811"	"2024-04-21"
"GENCC_000102-HGNC_9024-MONDO_0005021-HP_0000006-GENCC_100005"	"HGNC:9024"	"PKP2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9024"	"PKP2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a8e26ad-c4ce-48d7-acab-1198d3b12ce5-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2a8e26ad-c4ce-48d7-acab-1198d3b12ce5"	"2024-04-21"
"GENCC_000102-HGNC_9024-MONDO_0016587-HP_0000006-GENCC_100001"	"HGNC:9024"	"PKP2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9024"	"PKP2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-03-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f97b6cd-5225-4076-b67a-2f609908e6fe-2018-03-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6f97b6cd-5225-4076-b67a-2f609908e6fe"	"2024-04-21"
"GENCC_000102-HGNC_9035-MONDO_0018794-HP_0000007-GENCC_100003"	"HGNC:9035"	"PLA2G4A"	"MONDO:0018794"	"cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	"MONDO:0018794"	"cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9035"	"PLA2G4A"	"MONDO:0018794"	"cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff7f6f85-cca7-4eb2-9957-9023c94402f0-2022-06-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff7f6f85-cca7-4eb2-9957-9023c94402f0"	"2024-04-21"
"GENCC_000102-HGNC_9039-MONDO_0017998-HP_0000007-GENCC_100001"	"HGNC:9039"	"PLA2G6"	"MONDO:0017998"	"PLA2G6-associated neurodegeneration"	"MONDO:0017998"	"PLA2G6-associated neurodegeneration"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9039"	"PLA2G6"	"MONDO:0017998"	"PLA2G6-associated neurodegeneration"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d183700f-e6cc-482f-a3ed-f18f8154f092-2024-03-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d183700f-e6cc-482f-a3ed-f18f8154f092"	"2024-04-21"
"GENCC_000102-HGNC_9051-MONDO_0012872-HP_0000006-GENCC_100005"	"HGNC:9051"	"PLAT"	"MONDO:0012872"	"thrombophilia, familial, due to decreased release of tissue plasminogen activator"	"MONDO:0012872"	"thrombophilia, familial, due to decreased release of tissue plasminogen activator"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9051"	"PLAT"	"MONDO:0012872"	"thrombophilia, familial, due to decreased release of tissue plasminogen activator"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c280374c-5c63-46e4-b1a0-26cdd12e357d-2023-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c280374c-5c63-46e4-b1a0-26cdd12e357d"	"2024-04-21"
"GENCC_000102-HGNC_9052-MONDO_0011136-HP_0000006-GENCC_100003"	"HGNC:9052"	"PLAU"	"MONDO:0011136"	"Quebec platelet disorder"	"MONDO:0011136"	"Quebec platelet disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9052"	"PLAU"	"MONDO:0011136"	"Quebec platelet disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-01-05 16:01:23"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ffd0133-1004-4a53-b38d-940c257e56c1-2022-01-05T160123.087Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ffd0133-1004-4a53-b38d-940c257e56c1"	"2024-04-21"
"GENCC_000102-HGNC_15917-MONDO_0100062-HP_0000007-GENCC_100001"	"HGNC:15917"	"PLCB1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15917"	"PLCB1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-18 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7887c3b-332b-4586-93cf-4098796ab66f-2020-09-18T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c7887c3b-332b-4586-93cf-4098796ab66f"	"2024-04-21"
"GENCC_000102-HGNC_9059-MONDO_0013845-HP_0000006-GENCC_100001"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b419754b-72d5-4565-8213-b40051e3e60e-2023-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b419754b-72d5-4565-8213-b40051e3e60e"	"2024-04-21"
"GENCC_000102-HGNC_9059-MONDO_0013845-HP_0000007-GENCC_100003"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9059"	"PLCB4"	"MONDO:0013845"	"auriculocondylar syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ddf3bbb2-762c-4a36-90d1-b53ea6585070-2023-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ddf3bbb2-762c-4a36-90d1-b53ea6585070"	"2024-04-21"
"GENCC_000102-HGNC_17175-MONDO_0012546-HP_0000007-GENCC_100001"	"HGNC:17175"	"PLCE1"	"MONDO:0012546"	"nephrotic syndrome, type 3"	"MONDO:0012546"	"nephrotic syndrome, type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17175"	"PLCE1"	"MONDO:0012546"	"nephrotic syndrome, type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-10 14:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf5e85df-45a3-48dc-8b8d-27228d620412-2022-04-10T143000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cf5e85df-45a3-48dc-8b8d-27228d620412"	"2024-04-21"
"GENCC_000102-HGNC_9069-MONDO_0015152-HP_0000007-GENCC_100003"	"HGNC:9069"	"PLEC"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9069"	"PLEC"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-19 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67674d96-8b18-4139-8b88-317f63485a14-2023-06-19T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"67674d96-8b18-4139-8b88-317f63485a14"	"2024-04-21"
"GENCC_000102-HGNC_29105-MONDO_0019056-HP_0000007-GENCC_100001"	"HGNC:29105"	"PLEKHG5"	"MONDO:0019056"	"neuromuscular disease"	"MONDO:0019056"	"neuromuscular disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29105"	"PLEKHG5"	"MONDO:0019056"	"neuromuscular disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f2f5a6d-3b4f-4f4c-b560-50944b4ab34f-2023-09-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2f2f5a6d-3b4f-4f4c-b560-50944b4ab34f"	"2024-04-21"
"GENCC_000102-HGNC_29017-MONDO_0020848-HP_0000006-GENCC_100004"	"HGNC:29017"	"PLEKHM1"	"MONDO:0020848"	"osteopetrosis, autosomal dominant 3"	"MONDO:0020848"	"osteopetrosis, autosomal dominant 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29017"	"PLEKHM1"	"MONDO:0020848"	"osteopetrosis, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_831aa283-9525-422c-8a73-14217d9222ad-2024-03-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"831aa283-9525-422c-8a73-14217d9222ad"	"2024-04-21"
"GENCC_000102-HGNC_29017-MONDO_0012679-HP_0000007-GENCC_100003"	"HGNC:29017"	"PLEKHM1"	"MONDO:0012679"	"autosomal recessive osteopetrosis 6"	"MONDO:0012679"	"autosomal recessive osteopetrosis 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29017"	"PLEKHM1"	"MONDO:0012679"	"autosomal recessive osteopetrosis 6"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-03-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d3ccf3-6b4a-4182-ae30-0c68c907715a-2024-03-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1d3ccf3-6b4a-4182-ae30-0c68c907715a"	"2024-04-21"
"GENCC_000102-HGNC_29131-MONDO_0005021-HP_0000007-GENCC_100004"	"HGNC:29131"	"PLEKHM2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29131"	"PLEKHM2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44c534b9-16d1-435b-9eca-fb7d1de6ea26-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"44c534b9-16d1-435b-9eca-fb7d1de6ea26"	"2024-04-21"
"GENCC_000102-HGNC_9071-MONDO_0009009-HP_0000007-GENCC_100001"	"HGNC:9071"	"PLG"	"MONDO:0009009"	"hypoplasminogenemia"	"MONDO:0009009"	"hypoplasminogenemia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9071"	"PLG"	"MONDO:0009009"	"hypoplasminogenemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-10-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c9320e7-9f02-4b54-beba-0ca781a442eb-2019-10-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2c9320e7-9f02-4b54-beba-0ca781a442eb"	"2024-04-21"
"GENCC_000102-HGNC_9080-MONDO_0016587-HP_0000006-GENCC_100003"	"HGNC:9080"	"PLN"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9080"	"PLN"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-12-17 21:32:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13027de9-c84a-4968-936b-6356265193a6-2020-12-17T213224.631Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"13027de9-c84a-4968-936b-6356265193a6"	"2024-04-21"
"GENCC_000102-HGNC_9080-MONDO_0000591-HP_0000006-GENCC_100001"	"HGNC:9080"	"PLN"	"MONDO:0000591"	"intrinsic cardiomyopathy"	"MONDO:0000591"	"intrinsic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9080"	"PLN"	"MONDO:0000591"	"intrinsic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f49f65fb-a2df-4e86-9a89-da2325b207c8-2021-02-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f49f65fb-a2df-4e86-9a89-da2325b207c8"	"2024-04-21"
"GENCC_000102-HGNC_9086-MONDO_0010714-HP_0001417-GENCC_100001"	"HGNC:9086"	"PLP1"	"MONDO:0010714"	"Pelizeaus-Merzbacher spectrum disorder"	"MONDO:0010714"	"Pelizeaus-Merzbacher spectrum disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:9086"	"PLP1"	"MONDO:0010714"	"Pelizeaus-Merzbacher spectrum disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-03-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1a44c5f-744e-4d02-a08f-e7c687531b21-2018-03-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c1a44c5f-744e-4d02-a08f-e7c687531b21"	"2024-04-21"
"GENCC_000102-HGNC_9115-MONDO_0008907-HP_0000007-GENCC_100001"	"HGNC:9115"	"PMM2"	"MONDO:0008907"	"PMM2-congenital disorder of glycosylation"	"MONDO:0008907"	"PMM2-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9115"	"PMM2"	"MONDO:0008907"	"PMM2-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a70becbb-336f-4a30-966b-8db1c7832d87-2023-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a70becbb-336f-4a30-966b-8db1c7832d87"	"2024-04-21"
"GENCC_000102-HGNC_9117-MONDO_0015626-HP_0000006-GENCC_100004"	"HGNC:9117"	"PMP2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9117"	"PMP2"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-03-22 20:17:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa4c5730-f807-45d7-afe7-573a3960916f-2021-03-22T201734.319Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aa4c5730-f807-45d7-afe7-573a3960916f"	"2024-04-21"
"GENCC_000102-HGNC_9118-MONDO_0007309-HP_0000006-GENCC_100001"	"HGNC:9118"	"PMP22"	"MONDO:0007309"	"Charcot-Marie-Tooth disease type 1A"	"MONDO:0007309"	"Charcot-Marie-Tooth disease type 1A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9118"	"PMP22"	"MONDO:0007309"	"Charcot-Marie-Tooth disease type 1A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-10 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_169edbc0-b942-43f1-885d-8d47ccdb6d90-2022-10-10T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"169edbc0-b942-43f1-885d-8d47ccdb6d90"	"2024-04-21"
"GENCC_000102-HGNC_18667-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:18667"	"PMPCA"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18667"	"PMPCA"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6020acad-80ce-430c-adfe-37ed65b0803d-2023-12-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6020acad-80ce-430c-adfe-37ed65b0803d"	"2024-04-21"
"GENCC_000102-HGNC_9121-MONDO_0005835-HP_0000006-GENCC_100006"	"HGNC:9121"	"PMS1"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9121"	"PMS1"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7aa5e58f-5778-4b62-9279-a3da77ca79c0-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7aa5e58f-5778-4b62-9279-a3da77ca79c0"	"2024-04-21"
"GENCC_000102-HGNC_9122-MONDO_0005835-HP_0000006-GENCC_100001"	"HGNC:9122"	"PMS2"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9122"	"PMS2"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_213ba61e-a4a5-4e4f-945d-f0fef691a9ba-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"213ba61e-a4a5-4e4f-945d-f0fef691a9ba"	"2024-04-21"
"GENCC_000102-HGNC_9122-MONDO_0016419-HP_0000006-GENCC_100005"	"HGNC:9122"	"PMS2"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9122"	"PMS2"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_308d8362-7bd9-46a7-b2fa-ab8f671a44c9-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"308d8362-7bd9-46a7-b2fa-ab8f671a44c9"	"2024-04-21"
"GENCC_000102-HGNC_9122-MONDO_0010159-HP_0000007-GENCC_100001"	"HGNC:9122"	"PMS2"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9122"	"PMS2"	"MONDO:0010159"	"mismatch repair cancer syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38bc9d1d-a436-4f21-9952-bd5e7790a797-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"38bc9d1d-a436-4f21-9952-bd5e7790a797"	"2024-04-21"
"GENCC_000102-HGNC_9154-MONDO_0013254-HP_0000007-GENCC_100001"	"HGNC:9154"	"PNKP"	"MONDO:0013254"	"microcephaly, seizures, and developmental delay"	"MONDO:0013254"	"microcephaly, seizures, and developmental delay"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9154"	"PNKP"	"MONDO:0013254"	"microcephaly, seizures, and developmental delay"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-17 16:53:04"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_901a984a-c678-4f35-81c2-9436785d3698-2020-04-17T165304.309Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"901a984a-c678-4f35-81c2-9436785d3698"	"2024-04-21"
"GENCC_000102-HGNC_30802-MONDO_0012545-HP_0000007-GENCC_100001"	"HGNC:30802"	"PNPLA2"	"MONDO:0012545"	"neutral lipid storage myopathy"	"MONDO:0012545"	"neutral lipid storage myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30802"	"PNPLA2"	"MONDO:0012545"	"neutral lipid storage myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd21d68b-7688-4164-ba13-1ced669c4dfa-2022-07-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fd21d68b-7688-4164-ba13-1ced669c4dfa"	"2024-04-21"
"GENCC_000102-HGNC_16268-MONDO_0100155-HP_0000007-GENCC_100001"	"HGNC:16268"	"PNPLA6"	"MONDO:0100155"	"retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome"	"MONDO:0100155"	"retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16268"	"PNPLA6"	"MONDO:0100155"	"retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcc502f3-e49f-4549-ba75-782235974d21-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bcc502f3-e49f-4549-ba75-782235974d21"	"2024-04-21"
"GENCC_000102-HGNC_16268-MONDO_0100149-HP_0000007-GENCC_100001"	"HGNC:16268"	"PNPLA6"	"MONDO:0100149"	"PNPLA6-related spastic paraplegia with or without ataxia"	"MONDO:0100149"	"PNPLA6-related spastic paraplegia with or without ataxia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16268"	"PNPLA6"	"MONDO:0100149"	"PNPLA6-related spastic paraplegia with or without ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f05d3811-d318-4d8e-be25-8b9da90e6d23-2023-11-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f05d3811-d318-4d8e-be25-8b9da90e6d23"	"2024-04-21"
"GENCC_000102-HGNC_30260-MONDO_0012407-HP_0000007-GENCC_100001"	"HGNC:30260"	"PNPO"	"MONDO:0012407"	"pyridoxal phosphate-responsive seizures"	"MONDO:0012407"	"pyridoxal phosphate-responsive seizures"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30260"	"PNPO"	"MONDO:0012407"	"pyridoxal phosphate-responsive seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ff7b38-dd26-458a-afbb-4870785c42ec-2020-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f3ff7b38-dd26-458a-afbb-4870785c42ec"	"2024-04-21"
"GENCC_000102-HGNC_23166-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:23166"	"PNPT1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23166"	"PNPT1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-03-19 19:14:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ed99943-2ab9-417d-b0ec-ddbfa11c8645-2020-03-19T191429.965Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ed99943-2ab9-417d-b0ec-ddbfa11c8645"	"2024-04-21"
"GENCC_000102-HGNC_22954-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:22954"	"POGLUT1"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:22954"	"POGLUT1"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3396945-a664-4ada-bb7f-c123ec50b849-2022-02-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c3396945-a664-4ada-bb7f-c123ec50b849"	"2024-04-21"
"GENCC_000102-HGNC_18801-MONDO_0014606-HP_0000006-GENCC_100001"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5742d94-0642-4598-9fbd-fd43a2c21559-2020-03-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c5742d94-0642-4598-9fbd-fd43a2c21559"	"2024-04-21"
"GENCC_000102-HGNC_9175-MONDO_0800145-HP_0000007-GENCC_100004"	"HGNC:9175"	"POLD1"	"MONDO:0800145"	"non-severe combined immunodeficiency due to polymerase delta deficiency"	"MONDO:0800145"	"non-severe combined immunodeficiency due to polymerase delta deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9175"	"POLD1"	"MONDO:0800145"	"non-severe combined immunodeficiency due to polymerase delta deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-16 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73065a32-62bc-4cde-8131-f8f44c09a74f-2023-02-16T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"73065a32-62bc-4cde-8131-f8f44c09a74f"	"2024-04-21"
"GENCC_000102-HGNC_9175-MONDO_0100351-HP_0000006-GENCC_100001"	"HGNC:9175"	"POLD1"	"MONDO:0100351"	"POLD1-related polyposis and colorectal cancer syndrome"	"MONDO:0100351"	"POLD1-related polyposis and colorectal cancer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9175"	"POLD1"	"MONDO:0100351"	"POLD1-related polyposis and colorectal cancer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c064a017-9158-4eb5-8ea4-036e53798d2c-2023-07-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c064a017-9158-4eb5-8ea4-036e53798d2c"	"2024-04-21"
"GENCC_000102-HGNC_9176-MONDO_0800145-HP_0000007-GENCC_100004"	"HGNC:9176"	"POLD2"	"MONDO:0800145"	"non-severe combined immunodeficiency due to polymerase delta deficiency"	"MONDO:0800145"	"non-severe combined immunodeficiency due to polymerase delta deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9176"	"POLD2"	"MONDO:0800145"	"non-severe combined immunodeficiency due to polymerase delta deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-16 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dac83899-5bf3-4b5e-ba39-868b54cea34a-2023-02-16T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dac83899-5bf3-4b5e-ba39-868b54cea34a"	"2024-04-21"
"GENCC_000102-HGNC_9177-MONDO_0100287-HP_0000006-GENCC_100001"	"HGNC:9177"	"POLE"	"MONDO:0100287"	"POLE-related polyposis and colorectal cancer syndrome"	"MONDO:0100287"	"POLE-related polyposis and colorectal cancer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9177"	"POLE"	"MONDO:0100287"	"POLE-related polyposis and colorectal cancer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b5306f4-0422-42fc-9f67-2d9b263e4e1e-2023-07-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8b5306f4-0422-42fc-9f67-2d9b263e4e1e"	"2024-04-21"
"GENCC_000102-HGNC_9179-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:9179"	"POLG"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9179"	"POLG"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-30 14:49:55"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1212393e-b517-4430-a8d7-df7e32295aff-2021-06-30T144955.983Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1212393e-b517-4430-a8d7-df7e32295aff"	"2024-04-21"
"GENCC_000102-HGNC_9181-MONDO_0010214-HP_0000007-GENCC_100001"	"HGNC:9181"	"POLH"	"MONDO:0010214"	"xeroderma pigmentosum variant type"	"MONDO:0010214"	"xeroderma pigmentosum variant type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9181"	"POLH"	"MONDO:0010214"	"xeroderma pigmentosum variant type"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-02 21:58:46"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdb29404-0c05-4519-b6ee-8591368ad1ff-2018-11-02T215846.146Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bdb29404-0c05-4519-b6ee-8591368ad1ff"	"2024-04-21"
"GENCC_000102-HGNC_20194-MONDO_0009558-HP_0000007-GENCC_100003"	"HGNC:20194"	"POLR1C"	"MONDO:0009558"	"Treacher Collins syndrome 3"	"MONDO:0009558"	"Treacher Collins syndrome 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20194"	"POLR1C"	"MONDO:0009558"	"Treacher Collins syndrome 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-20 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4708b2e-ed95-481c-a1db-1eeb12f6c0b0-2023-07-20T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e4708b2e-ed95-481c-a1db-1eeb12f6c0b0"	"2024-04-21"
"GENCC_000102-HGNC_9187-MONDO_0032829-HP_0000006-GENCC_100003"	"HGNC:9187"	"POLR2A"	"MONDO:0032829"	"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"MONDO:0032829"	"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9187"	"POLR2A"	"MONDO:0032829"	"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-08-25 13:14:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_45cab675-1ca5-4c25-97a9-bfeeeb1e112a-2020-08-25T131429.407Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"45cab675-1ca5-4c25-97a9-bfeeeb1e112a"	"2024-04-21"
"GENCC_000102-HGNC_19139-MONDO_0700068-HP_0000007-GENCC_100002"	"HGNC:19139"	"POMGNT1"	"MONDO:0700068"	"myopathy caused by variation in POMGNT1"	"MONDO:0700068"	"myopathy caused by variation in POMGNT1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19139"	"POMGNT1"	"MONDO:0700068"	"myopathy caused by variation in POMGNT1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-06-21 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03bb8479-2ed3-4b15-9e54-378ea0729ab2-2023-06-21T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03bb8479-2ed3-4b15-9e54-378ea0729ab2"	"2024-04-21"
"GENCC_000102-HGNC_25902-MONDO_0700069-HP_0000007-GENCC_100001"	"HGNC:25902"	"POMGNT2"	"MONDO:0700069"	"myopathy caused by variation in POMGNT2"	"MONDO:0700069"	"myopathy caused by variation in POMGNT2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25902"	"POMGNT2"	"MONDO:0700069"	"myopathy caused by variation in POMGNT2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-21 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_522f3d3f-8026-439f-9318-2e4df6097a2e-2023-06-21T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"522f3d3f-8026-439f-9318-2e4df6097a2e"	"2024-04-21"
"GENCC_000102-HGNC_9202-MONDO_0700070-HP_0000007-GENCC_100001"	"HGNC:9202"	"POMT1"	"MONDO:0700070"	"myopathy caused by variation in POMT1"	"MONDO:0700070"	"myopathy caused by variation in POMT1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9202"	"POMT1"	"MONDO:0700070"	"myopathy caused by variation in POMT1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-16 04:37:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_146ee85f-a6c2-468f-aacb-a320767de36e-2022-02-16T043713.150Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"146ee85f-a6c2-468f-aacb-a320767de36e"	"2024-04-21"
"GENCC_000102-HGNC_19743-MONDO_0700071-HP_0000007-GENCC_100001"	"HGNC:19743"	"POMT2"	"MONDO:0700071"	"myopathy caused by variation in POMT2"	"MONDO:0700071"	"myopathy caused by variation in POMT2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19743"	"POMT2"	"MONDO:0700071"	"myopathy caused by variation in POMT2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32427fb1-d583-47eb-a368-685ef56bad3d-2021-11-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"32427fb1-d583-47eb-a368-685ef56bad3d"	"2024-04-21"
"GENCC_000102-HGNC_9208-MONDO_0008726-HP_0000007-GENCC_100001"	"HGNC:9208"	"POR"	"MONDO:0008726"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	"MONDO:0008726"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9208"	"POR"	"MONDO:0008726"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-23 19:37:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6275d46a-f005-45f8-b3ec-e9722f8dd39e-2022-03-23T193729.312Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6275d46a-f005-45f8-b3ec-e9722f8dd39e"	"2024-04-21"
"GENCC_000102-HGNC_17652-MONDO_0010592-HP_0001417-GENCC_100001"	"HGNC:17652"	"PORCN"	"MONDO:0010592"	"focal dermal hypoplasia"	"MONDO:0010592"	"focal dermal hypoplasia"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:17652"	"PORCN"	"MONDO:0010592"	"focal dermal hypoplasia"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-05 12:44:32"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fc3afa-d10d-4239-885f-24e91cbb31a8-2020-08-05T124432.168Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"20fc3afa-d10d-4239-885f-24e91cbb31a8"	"2024-04-21"
"GENCC_000102-HGNC_9211-MONDO_0015977-HP_0000007-GENCC_100004"	"HGNC:9211"	"POU2AF1"	"MONDO:0015977"	"agammaglobulinemia"	"MONDO:0015977"	"agammaglobulinemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9211"	"POU2AF1"	"MONDO:0015977"	"agammaglobulinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-09-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfebbac7-4e4e-4bd6-8977-1b490e915f45-2022-09-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cfebbac7-4e4e-4bd6-8977-1b490e915f45"	"2024-04-21"
"GENCC_000102-HGNC_9217-MONDO_0019497-HP_0001417-GENCC_100001"	"HGNC:9217"	"POU3F4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:9217"	"POU3F4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ab4f4a3-757d-4de3-90e7-42a229c360a0-2018-01-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4ab4f4a3-757d-4de3-90e7-42a229c360a0"	"2024-04-21"
"GENCC_000102-HGNC_9220-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:9220"	"POU4F3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9220"	"POU4F3"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1476f1d9-7538-40bd-b602-b76781630cee-2017-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1476f1d9-7538-40bd-b602-b76781630cee"	"2024-04-21"
"GENCC_000102-HGNC_9277-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:9277"	"PPM1D"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9277"	"PPM1D"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a93ec2cb-1632-4439-bdd9-4bcae1bb779f-2022-02-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a93ec2cb-1632-4439-bdd9-4bcae1bb779f"	"2024-04-21"
"GENCC_000102-HGNC_25415-MONDO_0014057-HP_0000007-GENCC_100003"	"HGNC:25415"	"PPM1K"	"MONDO:0014057"	"maple syrup urine disease, mild variant"	"MONDO:0014057"	"maple syrup urine disease, mild variant"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25415"	"PPM1K"	"MONDO:0014057"	"maple syrup urine disease, mild variant"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-12-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2b1c4d4-ca12-4456-afe0-f727106afeaf-2023-12-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d2b1c4d4-ca12-4456-afe0-f727106afeaf"	"2024-04-21"
"GENCC_000102-HGNC_9282-MONDO_0011899-HP_0000006-GENCC_100001"	"HGNC:9282"	"PPP1CB"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9282"	"PPP1CB"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16bcb316-090f-420d-9c89-b7642d3dc725-2020-04-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"16bcb316-090f-420d-9c89-b7642d3dc725"	"2024-04-21"
"GENCC_000102-HGNC_7618-MONDO_0032934-HP_0000006-GENCC_100002"	"HGNC:7618"	"PPP1R12A"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7618"	"PPP1R12A"	"MONDO:0032934"	"genitourinary and/or brain malformation syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2021-07-27 14:54:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93fa5165-a907-4ca8-b0d3-bb174bf3fca9-2021-07-27T145458.008Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"93fa5165-a907-4ca8-b0d3-bb174bf3fca9"	"2024-04-21"
"GENCC_000102-HGNC_30595-MONDO_0859165-HP_0000007-GENCC_100002"	"HGNC:30595"	"PPP1R21"	"MONDO:0859165"	"neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"	"MONDO:0859165"	"neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30595"	"PPP1R21"	"MONDO:0859165"	"neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-10-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8743574-2fe2-4819-a7bd-40e94d20065e-2023-10-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d8743574-2fe2-4819-a7bd-40e94d20065e"	"2024-04-21"
"GENCC_000102-HGNC_9302-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:9302"	"PPP2R1A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9302"	"PPP2R1A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aae8155-7cb1-44ee-9cee-17bb22e6a0ad-2022-11-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1aae8155-7cb1-44ee-9cee-17bb22e6a0ad"	"2024-04-21"
"GENCC_000102-HGNC_9312-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:9312"	"PPP2R5D"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9312"	"PPP2R5D"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-12 05:50:53"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b43ff91-1ea4-475b-97d9-6fbda924ea16-2022-01-12T055053.721Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4b43ff91-1ea4-475b-97d9-6fbda924ea16"	"2024-04-21"
"GENCC_000102-HGNC_9325-MONDO_0009744-HP_0000007-GENCC_100001"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9325"	"PPT1"	"MONDO:0009744"	"neuronal ceroid lipofuscinosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f72e2d3-f951-44da-a052-555d4f680114-2021-09-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8f72e2d3-f951-44da-a052-555d4f680114"	"2024-04-21"
"GENCC_000102-HGNC_9325-MONDO_0016295-HP_0000007-GENCC_100001"	"HGNC:9325"	"PPT1"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9325"	"PPT1"	"MONDO:0016295"	"neuronal ceroid lipofuscinosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-15 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae7ebc05-9401-4932-afe2-a80e0d31e12f-2020-06-15T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ae7ebc05-9401-4932-afe2-a80e0d31e12f"	"2024-04-21"
"GENCC_000102-HGNC_9330-MONDO_0010653-HP_0001417-GENCC_100001"	"HGNC:9330"	"PQBP1"	"MONDO:0010653"	"Renpenning syndrome"	"MONDO:0010653"	"Renpenning syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:9330"	"PQBP1"	"MONDO:0010653"	"Renpenning syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-11-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8128f36b-f273-49ee-bfd8-bee64b4df921-2018-11-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8128f36b-f273-49ee-bfd8-bee64b4df921"	"2024-04-21"
"GENCC_000102-HGNC_14000-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:14000"	"PRDM16"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14000"	"PRDM16"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0a3445a-5bb0-4d77-a4f0-5b7cfceb837f-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c0a3445a-5bb0-4d77-a4f0-5b7cfceb837f"	"2024-04-21"
"GENCC_000102-HGNC_9360-MONDO_0011337-HP_0000007-GENCC_100001"	"HGNC:9360"	"PRF1"	"MONDO:0011337"	"familial hemophagocytic lymphohistiocytosis 2"	"MONDO:0011337"	"familial hemophagocytic lymphohistiocytosis 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9360"	"PRF1"	"MONDO:0011337"	"familial hemophagocytic lymphohistiocytosis 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-15 11:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6705dc54-6e7e-4d7f-8377-4e87bb093819-2023-08-15T110000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6705dc54-6e7e-4d7f-8377-4e87bb093819"	"2024-04-21"
"GENCC_000102-HGNC_9364-MONDO_0008828-HP_0000007-GENCC_100001"	"HGNC:9364"	"PRG4"	"MONDO:0008828"	"camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"MONDO:0008828"	"camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9364"	"PRG4"	"MONDO:0008828"	"camptodactyly-arthropathy-coxa vara-pericarditis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-30 13:07:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b4be938-664c-421e-922b-dc6ac83e5dec-2021-07-30T130737.801Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3b4be938-664c-421e-922b-dc6ac83e5dec"	"2024-04-21"
"GENCC_000102-HGNC_17019-MONDO_0005027-HP_0000006-GENCC_100005"	"HGNC:17019"	"PRICKLE1"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17019"	"PRICKLE1"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-09-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71a3c632-fd63-4103-a069-5e9e413043e7-2020-09-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"71a3c632-fd63-4103-a069-5e9e413043e7"	"2024-04-21"
"GENCC_000102-HGNC_17019-MONDO_0020074-HP_0000007-GENCC_100004"	"HGNC:17019"	"PRICKLE1"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17019"	"PRICKLE1"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4e1195f-21ea-4721-b94b-99604e7c6554-2020-08-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d4e1195f-21ea-4721-b94b-99604e7c6554"	"2024-04-21"
"GENCC_000102-HGNC_20340-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:20340"	"PRICKLE2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20340"	"PRICKLE2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-29 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1713884-4e19-4810-b73f-871645cfc0c3-2022-12-29T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d1713884-4e19-4810-b73f-871645cfc0c3"	"2024-04-21"
"GENCC_000102-HGNC_9386-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:9386"	"PRKAG2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9386"	"PRKAG2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-01-30 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10051"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10051"	"2024-04-21"
"GENCC_000102-HGNC_9386-MONDO_0800484-HP_0000006-GENCC_100001"	"HGNC:9386"	"PRKAG2"	"MONDO:0800484"	"PRKAG2-related cardiomyopathy"	"MONDO:0800484"	"PRKAG2-related cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9386"	"PRKAG2"	"MONDO:0800484"	"PRKAG2-related cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27297fe8-ceca-432f-bd0b-ffadf65c4c41-2022-06-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"27297fe8-ceca-432f-bd0b-ffadf65c4c41"	"2024-04-21"
"GENCC_000102-HGNC_9388-MONDO_0008057-HP_0000006-GENCC_100001"	"HGNC:9388"	"PRKAR1A"	"MONDO:0008057"	"Carney complex, type 1"	"MONDO:0008057"	"Carney complex, type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9388"	"PRKAR1A"	"MONDO:0008057"	"Carney complex, type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-21 15:40:44"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc16b2a9-c8dc-4a04-a029-2f6af049404d-2018-12-21T154044.801Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fc16b2a9-c8dc-4a04-a029-2f6af049404d"	"2024-04-21"
"GENCC_000102-HGNC_9411-MONDO_0008265-HP_0000006-GENCC_100001"	"HGNC:9411"	"PRKCSH"	"MONDO:0008265"	"polycystic liver disease 1"	"MONDO:0008265"	"polycystic liver disease 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9411"	"PRKCSH"	"MONDO:0008265"	"polycystic liver disease 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-08 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83607ef3-6ec2-4d63-991a-4aeb3f7c2a25-2020-07-08T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"83607ef3-6ec2-4d63-991a-4aeb3f7c2a25"	"2024-04-21"
"GENCC_000102-HGNC_9413-MONDO_0014423-HP_0000007-GENCC_100001"	"HGNC:9413"	"PRKDC"	"MONDO:0014423"	"severe combined immunodeficiency due to DNA-PKcs deficiency"	"MONDO:0014423"	"severe combined immunodeficiency due to DNA-PKcs deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9413"	"PRKDC"	"MONDO:0014423"	"severe combined immunodeficiency due to DNA-PKcs deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-01 15:16:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fff25ca1-bbe5-47d3-b672-4b675a9fa6f7-2022-02-01T151658.605Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fff25ca1-bbe5-47d3-b672-4b675a9fa6f7"	"2024-04-21"
"GENCC_000102-HGNC_9414-MONDO_0019625-HP_0000006-GENCC_100002"	"HGNC:9414"	"PRKG1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9414"	"PRKG1"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8259"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8259"	"2024-04-21"
"GENCC_000102-HGNC_8607-MONDO_0005180-HP_0000007-GENCC_100001"	"HGNC:8607"	"PRKN"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8607"	"PRKN"	"MONDO:0005180"	"Parkinson disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-18 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b39c4a0-f6bd-4afc-b2a7-f234eab5a667-2023-01-18T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6b39c4a0-f6bd-4afc-b2a7-f234eab5a667"	"2024-04-21"
"GENCC_000102-HGNC_9451-MONDO_0019145-HP_0032113-GENCC_100001"	"HGNC:9451"	"PROC"	"MONDO:0019145"	"hereditary thrombophilia due to congenital protein C deficiency"	"MONDO:0019145"	"hereditary thrombophilia due to congenital protein C deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:9451"	"PROC"	"MONDO:0019145"	"hereditary thrombophilia due to congenital protein C deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6fe2f63-36ad-40c2-beb6-8804de17409d-2020-01-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c6fe2f63-36ad-40c2-beb6-8804de17409d"	"2024-04-21"
"GENCC_000102-HGNC_9453-MONDO_0009400-HP_0000007-GENCC_100001"	"HGNC:9453"	"PRODH"	"MONDO:0009400"	"hyperprolinemia type 1"	"MONDO:0009400"	"hyperprolinemia type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9453"	"PRODH"	"MONDO:0009400"	"hyperprolinemia type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5f28c677-a9b4-4bb3-9aed-14af97ad9896"	"2024-04-21"
"GENCC_000102-HGNC_17325-MONDO_0009374-HP_0000007-GENCC_100004"	"HGNC:17325"	"PRODH2"	"MONDO:0009374"	"hydroxyprolinemia"	"MONDO:0009374"	"hydroxyprolinemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17325"	"PRODH2"	"MONDO:0009374"	"hydroxyprolinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9101c67-2635-4595-b9a8-8e749bba58d1-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d9101c67-2635-4595-b9a8-8e749bba58d1"	"2024-04-21"
"GENCC_000102-HGNC_18455-MONDO_0012528-HP_0032113-GENCC_100001"	"HGNC:18455"	"PROK2"	"MONDO:0012528"	"hypogonadotropic hypogonadism 4 with or without anosmia"	"MONDO:0012528"	"hypogonadotropic hypogonadism 4 with or without anosmia"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:18455"	"PROK2"	"MONDO:0012528"	"hypogonadotropic hypogonadism 4 with or without anosmia"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2305ec95-325d-4ebe-9401-121705e49660-2022-03-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2305ec95-325d-4ebe-9401-121705e49660"	"2024-04-21"
"GENCC_000102-HGNC_15836-MONDO_0009482-HP_0000006-GENCC_100001"	"HGNC:15836"	"PROKR2"	"MONDO:0009482"	"hypogonadotropic hypogonadism 3 with or without anosmia"	"MONDO:0009482"	"hypogonadotropic hypogonadism 3 with or without anosmia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15836"	"PROKR2"	"MONDO:0009482"	"hypogonadotropic hypogonadism 3 with or without anosmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ed279e5-f1a6-4f02-818e-e34aaf8c9947-2022-04-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1ed279e5-f1a6-4f02-818e-e34aaf8c9947"	"2024-04-21"
"GENCC_000102-HGNC_9454-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:9454"	"PROM1"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9454"	"PROM1"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-04-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc5e9aa6-cfc9-4d12-bf28-319c2a272497-2024-04-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fc5e9aa6-cfc9-4d12-bf28-319c2a272497"	"2024-04-21"
"GENCC_000102-HGNC_9456-MONDO_0019144-HP_0032113-GENCC_100001"	"HGNC:9456"	"PROS1"	"MONDO:0019144"	"hereditary thrombophilia due to congenital protein S deficiency"	"MONDO:0019144"	"hereditary thrombophilia due to congenital protein S deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:9456"	"PROS1"	"MONDO:0019144"	"hereditary thrombophilia due to congenital protein S deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10e3af9d-80aa-4934-b592-594b1bd1cd92-2020-01-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10e3af9d-80aa-4934-b592-594b1bd1cd92"	"2024-04-21"
"GENCC_000102-HGNC_15446-MONDO_0800395-HP_0000006-GENCC_100001"	"HGNC:15446"	"PRPF31"	"MONDO:0800395"	"PRPF31-related retinopathy"	"MONDO:0800395"	"PRPF31-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15446"	"PRPF31"	"MONDO:0800395"	"PRPF31-related retinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81f354cf-29c2-4955-a09d-735463f16a35-2022-07-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"81f354cf-29c2-4955-a09d-735463f16a35"	"2024-04-21"
"GENCC_000102-HGNC_17340-MONDO_0019118-HP_0000006-GENCC_100001"	"HGNC:17340"	"PRPF8"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17340"	"PRPF8"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9efbbc3-6ce1-4f92-8472-627c2060dd88-2023-04-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b9efbbc3-6ce1-4f92-8472-627c2060dd88"	"2024-04-21"
"GENCC_000102-HGNC_9461-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:9461"	"PRPH"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9461"	"PRPH"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d11b04d-508a-4f91-9d9a-b5016fd0b940-2022-12-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3d11b04d-508a-4f91-9d9a-b5016fd0b940"	"2024-04-21"
"GENCC_000102-HGNC_9942-MONDO_0019118-HP_0032113-GENCC_100001"	"HGNC:9942"	"PRPH2"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:9942"	"PRPH2"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-04-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f069086-b0fb-4aaa-9921-aec158b938b5-2024-04-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f069086-b0fb-4aaa-9921-aec158b938b5"	"2024-04-21"
"GENCC_000102-HGNC_9462-MONDO_0010395-HP_0001417-GENCC_100004"	"HGNC:9462"	"PRPS1"	"MONDO:0010395"	"phosphoribosylpyrophosphate synthetase superactivity"	"MONDO:0010395"	"phosphoribosylpyrophosphate synthetase superactivity"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:9462"	"PRPS1"	"MONDO:0010395"	"phosphoribosylpyrophosphate synthetase superactivity"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-02-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76dc3f8d-e1c9-4506-9381-d2b5ab3df300-2020-02-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"76dc3f8d-e1c9-4506-9381-d2b5ab3df300"	"2024-04-21"
"GENCC_000102-HGNC_9462-MONDO_0100061-HP_0001417-GENCC_100001"	"HGNC:9462"	"PRPS1"	"MONDO:0100061"	"PRPS1 deficiency disorder"	"MONDO:0100061"	"PRPS1 deficiency disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:9462"	"PRPS1"	"MONDO:0100061"	"PRPS1 deficiency disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9416f6e2-8de3-48b0-9a1c-9bd11a59315c-2020-02-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9416f6e2-8de3-48b0-9a1c-9bd11a59315c"	"2024-04-21"
"GENCC_000102-HGNC_29217-MONDO_0859193-HP_0000006-GENCC_100001"	"HGNC:29217"	"PRR12"	"MONDO:0859193"	"neuroocular syndrome"	"MONDO:0859193"	"neuroocular syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29217"	"PRR12"	"MONDO:0859193"	"neuroocular syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d645c7ed-51f7-4695-a47d-ec3172ab3833-2024-01-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d645c7ed-51f7-4695-a47d-ec3172ab3833"	"2024-04-21"
"GENCC_000102-HGNC_30500-MONDO_0011178-HP_0000006-GENCC_100001"	"HGNC:30500"	"PRRT2"	"MONDO:0011178"	"infantile convulsions and choreoathetosis"	"MONDO:0011178"	"infantile convulsions and choreoathetosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30500"	"PRRT2"	"MONDO:0011178"	"infantile convulsions and choreoathetosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-21 21:38:14"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62af25b8-b9a4-421f-b897-4fc222569618-2020-01-21T213814.191Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"62af25b8-b9a4-421f-b897-4fc222569618"	"2024-04-21"
"GENCC_000102-HGNC_9475-MONDO_0008185-HP_0000006-GENCC_100001"	"HGNC:9475"	"PRSS1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9475"	"PRSS1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 20:50:14"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d271c52b-b0bb-4e9b-a745-ea03dc716fa0-2020-07-30T205014.833Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d271c52b-b0bb-4e9b-a745-ea03dc716fa0"	"2024-04-21"
"GENCC_000102-HGNC_9477-MONDO_0000509-HP_0000007-GENCC_100004"	"HGNC:9477"	"PRSS12"	"MONDO:0000509"	"non-syndromic intellectual disability"	"MONDO:0000509"	"non-syndromic intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9477"	"PRSS12"	"MONDO:0000509"	"non-syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-08-04 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d98f99d6-b1df-4cad-a53b-c94cfb532167-2021-08-04T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d98f99d6-b1df-4cad-a53b-c94cfb532167"	"2024-04-21"
"GENCC_000102-HGNC_13797-MONDO_0018995-HP_0000007-GENCC_100001"	"HGNC:13797"	"PRX"	"MONDO:0018995"	"Charcot-Marie-Tooth disease type 4"	"MONDO:0018995"	"Charcot-Marie-Tooth disease type 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13797"	"PRX"	"MONDO:0018995"	"Charcot-Marie-Tooth disease type 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_471d2fcc-f9d4-49d7-92b9-d16f5f751d83-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"471d2fcc-f9d4-49d7-92b9-d16f5f751d83"	"2024-04-21"
"GENCC_000102-HGNC_9498-MONDO_0009590-HP_0000007-GENCC_100001"	"HGNC:9498"	"PSAP"	"MONDO:0009590"	"metachromatic leukodystrophy due to saposin B deficiency"	"MONDO:0009590"	"metachromatic leukodystrophy due to saposin B deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9498"	"PSAP"	"MONDO:0009590"	"metachromatic leukodystrophy due to saposin B deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e24c4e4-a97d-4d08-abd9-e190fb001b9d-2023-07-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4e24c4e4-a97d-4d08-abd9-e190fb001b9d"	"2024-04-21"
"GENCC_000102-HGNC_9498-MONDO_0012720-HP_0000007-GENCC_100003"	"HGNC:9498"	"PSAP"	"MONDO:0012720"	"Krabbe disease due to saposin A deficiency"	"MONDO:0012720"	"Krabbe disease due to saposin A deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9498"	"PSAP"	"MONDO:0012720"	"Krabbe disease due to saposin A deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-12-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3b621df-e104-4d9e-bd9b-f60dd6a40182-2023-12-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d3b621df-e104-4d9e-bd9b-f60dd6a40182"	"2024-04-21"
"GENCC_000102-HGNC_9498-MONDO_0012517-HP_0000007-GENCC_100001"	"HGNC:9498"	"PSAP"	"MONDO:0012517"	"Gaucher disease due to saposin C deficiency"	"MONDO:0012517"	"Gaucher disease due to saposin C deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9498"	"PSAP"	"MONDO:0012517"	"Gaucher disease due to saposin C deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e949cb92-7d76-471e-9e37-44fd7f00964b-2023-06-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e949cb92-7d76-471e-9e37-44fd7f00964b"	"2024-04-21"
"GENCC_000102-HGNC_9498-MONDO_0012719-HP_0000007-GENCC_100001"	"HGNC:9498"	"PSAP"	"MONDO:0012719"	"combined PSAP deficiency"	"MONDO:0012719"	"combined PSAP deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9498"	"PSAP"	"MONDO:0012719"	"combined PSAP deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb727feb-42ad-4035-868c-7a217da8e31f-2023-07-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eb727feb-42ad-4035-868c-7a217da8e31f"	"2024-04-21"
"GENCC_000102-HGNC_19129-MONDO_0018162-HP_0000007-GENCC_100001"	"HGNC:19129"	"PSAT1"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19129"	"PSAT1"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 16:56:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca702099-7dc9-4434-b661-a6f9b8c72d5c-2020-06-29T165656.452Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca702099-7dc9-4434-b661-a6f9b8c72d5c"	"2024-04-21"
"GENCC_000102-HGNC_19093-MONDO_0008339-HP_0000006-GENCC_100004"	"HGNC:19093"	"PSD3"	"MONDO:0008339"	"antecubital pterygium syndrome"	"MONDO:0008339"	"antecubital pterygium syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19093"	"PSD3"	"MONDO:0008339"	"antecubital pterygium syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-11-24 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4845"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4845"	"2024-04-21"
"GENCC_000102-HGNC_9508-MONDO_0005021-HP_0000006-GENCC_100005"	"HGNC:9508"	"PSEN1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9508"	"PSEN1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d71e8591-dece-4855-ae6c-d43e20cbf836-2020-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d71e8591-dece-4855-ae6c-d43e20cbf836"	"2024-04-21"
"GENCC_000102-HGNC_9509-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:9509"	"PSEN2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9509"	"PSEN2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e20579f-efc7-4ccd-8653-85c0aafe788f-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9e20579f-efc7-4ccd-8653-85c0aafe788f"	"2024-04-21"
"GENCC_000102-HGNC_9557-MONDO_0054591-HP_0000006-GENCC_100001"	"HGNC:9557"	"PSMD12"	"MONDO:0054591"	"Stankiewicz-Isidor syndrome"	"MONDO:0054591"	"Stankiewicz-Isidor syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9557"	"PSMD12"	"MONDO:0054591"	"Stankiewicz-Isidor syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-05 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ca4eea6-b6b2-41dd-8420-84f886e6d849-2024-03-05T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8ca4eea6-b6b2-41dd-8420-84f886e6d849"	"2024-04-21"
"GENCC_000102-HGNC_9577-MONDO_0018162-HP_0000007-GENCC_100003"	"HGNC:9577"	"PSPH"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9577"	"PSPH"	"MONDO:0018162"	"neurometabolic disorder due to serine deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa832956-c4e9-4620-a2e7-3d6d6e9eea8c-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fa832956-c4e9-4620-a2e7-3d6d6e9eea8c"	"2024-04-21"
"GENCC_000102-HGNC_24717-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:24717"	"PTCD3"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24717"	"PTCD3"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-06-20 16:44:19"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac3d1e08-56f0-43b6-a2fa-0d06571ba121-2019-06-20T164419.242Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ac3d1e08-56f0-43b6-a2fa-0d06571ba121"	"2024-04-21"
"GENCC_000102-HGNC_9585-MONDO_0007187-HP_0000006-GENCC_100001"	"HGNC:9585"	"PTCH1"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9585"	"PTCH1"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a3f55f5-e39b-4571-a41f-e46ddb8e298d-2018-06-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2a3f55f5-e39b-4571-a41f-e46ddb8e298d"	"2024-04-21"
"GENCC_000102-HGNC_9586-MONDO_0007187-HP_0000006-GENCC_100004"	"HGNC:9586"	"PTCH2"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9586"	"PTCH2"	"MONDO:0007187"	"nevoid basal cell carcinoma syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-10-12 21:39:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d189ca00-ba80-49af-9b2e-8523c8d29a44-2018-10-12T213908.660Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d189ca00-ba80-49af-9b2e-8523c8d29a44"	"2024-04-21"
"GENCC_000102-HGNC_26392-MONDO_0019181-HP_0001417-GENCC_100001"	"HGNC:26392"	"PTCHD1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:26392"	"PTCHD1"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-08-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05d36fe2-0026-4bbc-af4b-6d952490969b-2018-08-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"05d36fe2-0026-4bbc-af4b-6d952490969b"	"2024-04-21"
"GENCC_000102-HGNC_9604-MONDO_0011588-HP_0032113-GENCC_100004"	"HGNC:9604"	"PTGS1"	"MONDO:0011588"	"platelet-type bleeding disorder 12"	"MONDO:0011588"	"platelet-type bleeding disorder 12"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:9604"	"PTGS1"	"MONDO:0011588"	"platelet-type bleeding disorder 12"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-02-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d979e26e-bf9b-4f6a-a37c-2df0f2d35129-2023-02-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d979e26e-bf9b-4f6a-a37c-2df0f2d35129"	"2024-04-21"
"GENCC_000102-HGNC_9644-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:9644"	"PTPN11"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9644"	"PTPN11"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bb08565-4669-4633-b6ed-c04e2a431cf9-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2bb08565-4669-4633-b6ed-c04e2a431cf9"	"2024-04-21"
"GENCC_000102-HGNC_9644-MONDO_0009026-HP_0000006-GENCC_100005"	"HGNC:9644"	"PTPN11"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9644"	"PTPN11"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-05-31 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72fca24b-243b-49de-9ceb-ae76e12f60a8-2018-05-31T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"72fca24b-243b-49de-9ceb-ae76e12f60a8"	"2024-04-21"
"GENCC_000102-HGNC_9644-MONDO_0015280-HP_0000006-GENCC_100005"	"HGNC:9644"	"PTPN11"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9644"	"PTPN11"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1a2133e-4ce8-45b7-87da-1c52990d3890-2018-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a1a2133e-4ce8-45b7-87da-1c52990d3890"	"2024-04-21"
"GENCC_000102-HGNC_9644-MONDO_0007893-HP_0000006-GENCC_100001"	"HGNC:9644"	"PTPN11"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9644"	"PTPN11"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6c41f3b-c2d1-4d66-a1a3-a5beaa304578-2018-07-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e6c41f3b-c2d1-4d66-a1a3-a5beaa304578"	"2024-04-21"
"GENCC_000102-HGNC_9666-MONDO_0012163-HP_0000007-GENCC_100001"	"HGNC:9666"	"PTPRC"	"MONDO:0012163"	"immunodeficiency 104"	"MONDO:0012163"	"immunodeficiency 104"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9666"	"PTPRC"	"MONDO:0012163"	"immunodeficiency 104"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-22 20:55:04"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4b09bbc-c749-45be-9f2a-1a54813b2906-2021-12-22T205504.201Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f4b09bbc-c749-45be-9f2a-1a54813b2906"	"2024-04-21"
"GENCC_000102-HGNC_9673-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:9673"	"PTPRJ"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9673"	"PTPRJ"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-10-12 21:07:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_051bd795-fea1-4d6d-8947-348b7f0be80a-2018-10-12T210742.630Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"051bd795-fea1-4d6d-8947-348b7f0be80a"	"2024-04-21"
"GENCC_000102-HGNC_9679-MONDO_0019588-HP_0000007-GENCC_100001"	"HGNC:9679"	"PTPRQ"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9679"	"PTPRQ"	"MONDO:0019588"	"hearing loss, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-02-23 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8404"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8404"	"2024-04-21"
"GENCC_000102-HGNC_9689-MONDO_0009863-HP_0000007-GENCC_100001"	"HGNC:9689"	"PTS"	"MONDO:0009863"	"BH4-deficient hyperphenylalaninemia A"	"MONDO:0009863"	"BH4-deficient hyperphenylalaninemia A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9689"	"PTS"	"MONDO:0009863"	"BH4-deficient hyperphenylalaninemia A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3f9b683-bd6b-4566-9341-ddd7195b5108-2017-12-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f3f9b683-bd6b-4566-9341-ddd7195b5108"	"2024-04-21"
"GENCC_000102-HGNC_17042-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:17042"	"PUF60"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17042"	"PUF60"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_661c140f-11a3-46f8-b001-14a2314582e4-2021-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"661c140f-11a3-46f8-b001-14a2314582e4"	"2024-04-21"
"GENCC_000102-HGNC_9701-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:9701"	"PURA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9701"	"PURA"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6819633c-e488-4856-8dec-3981cd14db9b-2018-12-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6819633c-e488-4856-8dec-3981cd14db9b"	"2024-04-21"
"GENCC_000102-HGNC_15508-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:15508"	"PUS1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15508"	"PUS1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_821f6d18-025f-477b-8ba2-b4aad502670c-2022-08-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"821f6d18-025f-477b-8ba2-b4aad502670c"	"2024-04-21"
"GENCC_000102-HGNC_14966-MONDO_0010015-HP_0000007-GENCC_100001"	"HGNC:14966"	"PXDN"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14966"	"PXDN"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_905b07f8-ed15-4c25-9579-edac5521c699-2023-06-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"905b07f8-ed15-4c25-9579-edac5521c699"	"2024-04-21"
"GENCC_000102-HGNC_9721-MONDO_0013051-HP_0000007-GENCC_100001"	"HGNC:9721"	"PYCR1"	"MONDO:0013051"	"autosomal recessive cutis laxa type 2B"	"MONDO:0013051"	"autosomal recessive cutis laxa type 2B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9721"	"PYCR1"	"MONDO:0013051"	"autosomal recessive cutis laxa type 2B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-21 19:16:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca242cd8-1f57-4c7b-ba97-5ec0c97b425b-2020-05-21T191607.864Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca242cd8-1f57-4c7b-ba97-5ec0c97b425b"	"2024-04-21"
"GENCC_000102-HGNC_26162-MONDO_0014993-HP_0000007-GENCC_100001"	"HGNC:26162"	"PYROXD1"	"MONDO:0014993"	"myofibrillar myopathy 8"	"MONDO:0014993"	"myofibrillar myopathy 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26162"	"PYROXD1"	"MONDO:0014993"	"myofibrillar myopathy 8"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-05 13:47:31"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44f4197c-2004-4d10-81dc-e61190eba909-2019-11-05T134731.947Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"44f4197c-2004-4d10-81dc-e61190eba909"	"2024-04-21"
"GENCC_000102-HGNC_9751-MONDO_0014335-HP_0000007-GENCC_100001"	"HGNC:9751"	"QARS1"	"MONDO:0014335"	"diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome"	"MONDO:0014335"	"diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9751"	"QARS1"	"MONDO:0014335"	"diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-26 15:00:33"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b0cbc0e-c97c-4f6d-a351-0ac23a4ba8a5-2020-05-26T150033.131Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6b0cbc0e-c97c-4f6d-a351-0ac23a4ba8a5"	"2024-04-21"
"GENCC_000102-HGNC_9752-MONDO_0009862-HP_0000007-GENCC_100001"	"HGNC:9752"	"QDPR"	"MONDO:0009862"	"dihydropteridine reductase deficiency"	"MONDO:0009862"	"dihydropteridine reductase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9752"	"QDPR"	"MONDO:0009862"	"dihydropteridine reductase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cd45f13-9412-4439-9b68-cf2e3d02a646-2018-06-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3cd45f13-9412-4439-9b68-cf2e3d02a646"	"2024-04-21"
"GENCC_000102-HGNC_24713-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:24713"	"QRICH1"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:24713"	"QRICH1"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ccc6c6f-da19-4e86-88a8-5e7a1794efae-2022-06-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ccc6c6f-da19-4e86-88a8-5e7a1794efae"	"2024-04-21"
"GENCC_000102-HGNC_14244-MONDO_0016649-HP_0000007-GENCC_100003"	"HGNC:14244"	"RAB18"	"MONDO:0016649"	"Warburg micro syndrome"	"MONDO:0016649"	"Warburg micro syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14244"	"RAB18"	"MONDO:0016649"	"Warburg micro syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4f09a474-8789-4f05-8f7e-611698d30936-2023-09-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4f09a474-8789-4f05-8f7e-611698d30936"	"2024-04-21"
"GENCC_000102-HGNC_14263-MONDO_0008710-HP_0000007-GENCC_100001"	"HGNC:14263"	"RAB23"	"MONDO:0008710"	"RAB23-related Carpenter syndrome"	"MONDO:0008710"	"RAB23-related Carpenter syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14263"	"RAB23"	"MONDO:0008710"	"RAB23-related Carpenter syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_46756b21-4bb5-4384-a42c-cf10c76e98c8-2021-04-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"46756b21-4bb5-4384-a42c-cf10c76e98c8"	"2024-04-21"
"GENCC_000102-HGNC_9766-MONDO_0011872-HP_0000007-GENCC_100001"	"HGNC:9766"	"RAB27A"	"MONDO:0011872"	"Griscelli syndrome type 2"	"MONDO:0011872"	"Griscelli syndrome type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9766"	"RAB27A"	"MONDO:0011872"	"Griscelli syndrome type 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-31 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85b7d8d2-1d22-44f3-9b24-580b42d69300-2023-10-31T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"85b7d8d2-1d22-44f3-9b24-580b42d69300"	"2024-04-21"
"GENCC_000102-HGNC_9768-MONDO_0100448-HP_0000007-GENCC_100001"	"HGNC:9768"	"RAB28"	"MONDO:0100448"	"RAB28-related retinopathy"	"MONDO:0100448"	"RAB28-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9768"	"RAB28"	"MONDO:0100448"	"RAB28-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8e3c7bd-3ee5-404d-98b0-75af6ec257d1-2021-11-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e8e3c7bd-3ee5-404d-98b0-75af6ec257d1"	"2024-04-21"
"GENCC_000102-HGNC_16499-MONDO_0010709-HP_0001417-GENCC_100001"	"HGNC:16499"	"RAB39B"	"MONDO:0010709"	"early-onset parkinsonism-intellectual disability syndrome"	"MONDO:0010709"	"early-onset parkinsonism-intellectual disability syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:16499"	"RAB39B"	"MONDO:0010709"	"early-onset parkinsonism-intellectual disability syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-04 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01dc73a8-fbd2-4081-95cd-ab7cb59236d7-2018-06-04T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"01dc73a8-fbd2-4081-95cd-ab7cb59236d7"	"2024-04-21"
"GENCC_000102-HGNC_17063-MONDO_0016649-HP_0000007-GENCC_100001"	"HGNC:17063"	"RAB3GAP1"	"MONDO:0016649"	"Warburg micro syndrome"	"MONDO:0016649"	"Warburg micro syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17063"	"RAB3GAP1"	"MONDO:0016649"	"Warburg micro syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1e4a47e-757a-442f-b82f-2ddfd69d0854-2020-05-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a1e4a47e-757a-442f-b82f-2ddfd69d0854"	"2024-04-21"
"GENCC_000102-HGNC_17168-MONDO_0016649-HP_0000007-GENCC_100001"	"HGNC:17168"	"RAB3GAP2"	"MONDO:0016649"	"Warburg micro syndrome"	"MONDO:0016649"	"Warburg micro syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17168"	"RAB3GAP2"	"MONDO:0016649"	"Warburg micro syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-28 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a322fa3e-2985-4f60-9b4b-87f333cf9431-2023-11-28T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a322fa3e-2985-4f60-9b4b-87f333cf9431"	"2024-04-21"
"GENCC_000102-HGNC_25410-MONDO_0020119-HP_0001417-GENCC_100006"	"HGNC:25410"	"RAB40AL"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100006"	"Refuted Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:25410"	"RAB40AL"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2021-06-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_126405bb-ecf5-49a3-b7d5-bb1b45a65e26-2021-06-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"126405bb-ecf5-49a3-b7d5-bb1b45a65e26"	"2024-04-21"
"GENCC_000102-HGNC_9788-MONDO_0018993-HP_0000006-GENCC_100001"	"HGNC:9788"	"RAB7A"	"MONDO:0018993"	"Charcot-Marie-Tooth disease type 2"	"MONDO:0018993"	"Charcot-Marie-Tooth disease type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9788"	"RAB7A"	"MONDO:0018993"	"Charcot-Marie-Tooth disease type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-10 02:10:34"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_222dbfa6-db75-42a0-bab6-338b46a316c3-2022-02-10T021034.172Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"222dbfa6-db75-42a0-bab6-338b46a316c3"	"2024-04-21"
"GENCC_000102-HGNC_9802-MONDO_0033555-HP_0000007-GENCC_100003"	"HGNC:9802"	"RAC2"	"MONDO:0033555"	"immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"	"MONDO:0033555"	"immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9802"	"RAC2"	"MONDO:0033555"	"immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-10-19 15:46:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8191c879-cc6a-4c5e-9ceb-7101aa7cbc15-2021-10-19T154613.500Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8191c879-cc6a-4c5e-9ceb-7101aa7cbc15"	"2024-04-21"
"GENCC_000102-HGNC_9802-MONDO_0033554-HP_0000006-GENCC_100002"	"HGNC:9802"	"RAC2"	"MONDO:0033554"	"immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"	"MONDO:0033554"	"immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9802"	"RAC2"	"MONDO:0033554"	"immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2021-10-19 15:55:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6c1e0b1-de02-4899-9825-acc950bedcc3-2021-10-19T155522.241Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a6c1e0b1-de02-4899-9825-acc950bedcc3"	"2024-04-21"
"GENCC_000102-HGNC_9802-MONDO_0011988-HP_0000006-GENCC_100003"	"HGNC:9802"	"RAC2"	"MONDO:0011988"	"neutrophil immunodeficiency syndrome"	"MONDO:0011988"	"neutrophil immunodeficiency syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9802"	"RAC2"	"MONDO:0011988"	"neutrophil immunodeficiency syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-12-21 13:50:17"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f415e195-889f-4812-becd-5b3e7fe6b84f-2021-12-21T135017.284Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f415e195-889f-4812-becd-5b3e7fe6b84f"	"2024-04-21"
"GENCC_000102-HGNC_9811-MONDO_0016033-HP_0000006-GENCC_100001"	"HGNC:9811"	"RAD21"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9811"	"RAD21"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30ad5023-6c68-42ab-b8ea-a601a134eaf6-2020-01-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"30ad5023-6c68-42ab-b8ea-a601a134eaf6"	"2024-04-21"
"GENCC_000102-HGNC_9816-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:9816"	"RAD50"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9816"	"RAD50"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-03-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f16b58f-c6b5-45ef-bb4a-a9fa5fe8ac35-2023-03-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f16b58f-c6b5-45ef-bb4a-a9fa5fe8ac35"	"2024-04-21"
"GENCC_000102-HGNC_9820-MONDO_0016419-HP_0000006-GENCC_100005"	"HGNC:9820"	"RAD51C"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9820"	"RAD51C"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-05-10 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8697"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8697"	"2024-04-21"
"GENCC_000102-HGNC_9820-MONDO_0013248-HP_0000007-GENCC_100004"	"HGNC:9820"	"RAD51C"	"MONDO:0013248"	"Fanconi anemia complementation group O"	"MONDO:0013248"	"Fanconi anemia complementation group O"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9820"	"RAD51C"	"MONDO:0013248"	"Fanconi anemia complementation group O"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea7ea36f-955c-4478-b5f6-12ff0a0dbf0b-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ea7ea36f-955c-4478-b5f6-12ff0a0dbf0b"	"2024-04-21"
"GENCC_000102-HGNC_9823-MONDO_0016419-HP_0000006-GENCC_100004"	"HGNC:9823"	"RAD51D"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9823"	"RAD51D"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-11-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3215"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3215"	"2024-04-21"
"GENCC_000102-HGNC_9829-MONDO_0009026-HP_0000006-GENCC_100005"	"HGNC:9829"	"RAF1"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9829"	"RAF1"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67081421-a4a3-4b62-88e0-4a78d19859ba-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"67081421-a4a3-4b62-88e0-4a78d19859ba"	"2024-04-21"
"GENCC_000102-HGNC_9829-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:9829"	"RAF1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9829"	"RAF1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85645d27-2056-4ad3-9593-8d7739aa4121-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"85645d27-2056-4ad3-9593-8d7739aa4121"	"2024-04-21"
"GENCC_000102-HGNC_9829-MONDO_0015280-HP_0000006-GENCC_100005"	"HGNC:9829"	"RAF1"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9829"	"RAF1"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-05-31 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e7c802-14d7-435c-b396-637b728a3ae2-2018-05-31T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b1e7c802-14d7-435c-b396-637b728a3ae2"	"2024-04-21"
"GENCC_000102-HGNC_9829-MONDO_0007893-HP_0000006-GENCC_100004"	"HGNC:9829"	"RAF1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9829"	"RAF1"	"MONDO:0007893"	"Noonan syndrome with multiple lentigines"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-07-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cda0bf05-836b-40bb-99f5-e1dbfd0f6741-2018-07-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cda0bf05-836b-40bb-99f5-e1dbfd0f6741"	"2024-04-21"
"GENCC_000102-HGNC_9831-MONDO_0000572-HP_0000007-GENCC_100001"	"HGNC:9831"	"RAG1"	"MONDO:0000572"	"recombinase activating gene 1 deficiency"	"MONDO:0000572"	"recombinase activating gene 1 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9831"	"RAG1"	"MONDO:0000572"	"recombinase activating gene 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f08ada81-650b-4764-99e4-f3156f67cbc9-2021-06-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f08ada81-650b-4764-99e4-f3156f67cbc9"	"2024-04-21"
"GENCC_000102-HGNC_9832-MONDO_0000573-HP_0000007-GENCC_100001"	"HGNC:9832"	"RAG2"	"MONDO:0000573"	"recombinase activating gene 2 deficiency"	"MONDO:0000573"	"recombinase activating gene 2 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9832"	"RAG2"	"MONDO:0000573"	"recombinase activating gene 2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-19 14:05:20"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e9918ba-b94a-4526-bd99-09abef894225-2021-08-19T140520.555Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4e9918ba-b94a-4526-bd99-09abef894225"	"2024-04-21"
"GENCC_000102-HGNC_9834-MONDO_0008434-HP_0000006-GENCC_100001"	"HGNC:9834"	"RAI1"	"MONDO:0008434"	"Smith-Magenis syndrome"	"MONDO:0008434"	"Smith-Magenis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9834"	"RAI1"	"MONDO:0008434"	"Smith-Magenis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e576e58-debf-49c6-a86d-c599806180ff-2018-09-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1e576e58-debf-49c6-a86d-c599806180ff"	"2024-04-21"
"GENCC_000102-HGNC_9848-MONDO_0009723-HP_0000006-GENCC_100004"	"HGNC:9848"	"RANBP2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9848"	"RANBP2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-30 14:53:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_183be314-face-471f-9643-9cc1a302636f-2021-06-30T145342.020Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"183be314-face-471f-9643-9cc1a302636f"	"2024-04-21"
"GENCC_000102-HGNC_17679-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:17679"	"RANGRF"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17679"	"RANGRF"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10157"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10157"	"2024-04-21"
"GENCC_000102-HGNC_9857-MONDO_0018795-HP_0000006-GENCC_100004"	"HGNC:9857"	"RAP1B"	"MONDO:0018795"	"syndromic constitutional thrombocytopenia"	"MONDO:0018795"	"syndromic constitutional thrombocytopenia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9857"	"RAP1B"	"MONDO:0018795"	"syndromic constitutional thrombocytopenia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-09-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6140482f-8f93-47b2-9915-597da34a5975-2022-09-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6140482f-8f93-47b2-9915-597da34a5975"	"2024-04-21"
"GENCC_000102-HGNC_9865-MONDO_0014229-HP_0000006-GENCC_100001"	"HGNC:9865"	"RARB"	"MONDO:0014229"	"microphthalmia, syndromic 12"	"MONDO:0014229"	"microphthalmia, syndromic 12"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9865"	"RARB"	"MONDO:0014229"	"microphthalmia, syndromic 12"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fde1ee7-8deb-49e3-a335-0c47c5e77e52-2023-04-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8fde1ee7-8deb-49e3-a335-0c47c5e77e52"	"2024-04-21"
"GENCC_000102-HGNC_21406-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:21406"	"RARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21406"	"RARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bdeaf04-f6ce-42f1-9ee0-037f1ead77fb-2022-05-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1bdeaf04-f6ce-42f1-9ee0-037f1ead77fb"	"2024-04-21"
"GENCC_000102-HGNC_9871-MONDO_0018997-HP_0000006-GENCC_100005"	"HGNC:9871"	"RASA1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9871"	"RASA1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a957c2df-eeec-4bdf-b423-6f1667f66abd-2018-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a957c2df-eeec-4bdf-b423-6f1667f66abd"	"2024-04-21"
"GENCC_000102-HGNC_9872-MONDO_0018997-HP_0000006-GENCC_100004"	"HGNC:9872"	"RASA2"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9872"	"RASA2"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9635e391-79b6-4054-824e-1c607a02cd07-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9635e391-79b6-4054-824e-1c607a02cd07"	"2024-04-21"
"GENCC_000102-HGNC_9879-MONDO_0014386-HP_0000007-GENCC_100001"	"HGNC:9879"	"RASGRP2"	"MONDO:0014386"	"platelet-type bleeding disorder 18"	"MONDO:0014386"	"platelet-type bleeding disorder 18"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9879"	"RASGRP2"	"MONDO:0014386"	"platelet-type bleeding disorder 18"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-27 13:53:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4401e99-145a-4b93-aa73-6854b8037895-2019-09-27T135300.165Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f4401e99-145a-4b93-aa73-6854b8037895"	"2024-04-21"
"GENCC_000102-HGNC_9884-MONDO_0008380-HP_0000006-GENCC_100001"	"HGNC:9884"	"RB1"	"MONDO:0008380"	"retinoblastoma"	"MONDO:0008380"	"retinoblastoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9884"	"RB1"	"MONDO:0008380"	"retinoblastoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 21:39:29"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8c79621-7ace-4c0c-874e-a315a2e6c872-2020-07-30T213929.219Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f8c79621-7ace-4c0c-874e-a315a2e6c872"	"2024-04-21"
"GENCC_000102-HGNC_27424-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:27424"	"RBM20"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:27424"	"RBM20"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-10-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35dd9f5a-7575-4899-aadf-3e1234a44f2d-2023-10-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"35dd9f5a-7575-4899-aadf-3e1234a44f2d"	"2024-04-21"
"GENCC_000102-HGNC_27424-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:27424"	"RBM20"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:27424"	"RBM20"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e123751-078a-4d30-9f83-847119982342-2020-08-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3e123751-078a-4d30-9f83-847119982342"	"2024-04-21"
"GENCC_000102-HGNC_9905-MONDO_0010121-HP_0000007-GENCC_100001"	"HGNC:9905"	"RBM8A"	"MONDO:0010121"	"thrombocytopenia-absent radius syndrome"	"MONDO:0010121"	"thrombocytopenia-absent radius syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9905"	"RBM8A"	"MONDO:0010121"	"thrombocytopenia-absent radius syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56c276a7-3068-48db-9baa-6f178eb9c3a7-2020-05-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"56c276a7-3068-48db-9baa-6f178eb9c3a7"	"2024-04-21"
"GENCC_000102-HGNC_18243-MONDO_0014955-HP_0000007-GENCC_100001"	"HGNC:18243"	"RCBTB1"	"MONDO:0014955"	"RCBTB1-related retinopathy"	"MONDO:0014955"	"RCBTB1-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18243"	"RCBTB1"	"MONDO:0014955"	"RCBTB1-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f356649e-e6d6-4ab6-9e78-3774404794ff-2022-06-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f356649e-e6d6-4ab6-9e78-3774404794ff"	"2024-04-21"
"GENCC_000102-HGNC_19977-MONDO_0800099-HP_0000007-GENCC_100001"	"HGNC:19977"	"RDH12"	"MONDO:0800099"	"RDH12-related recessive retinopathy"	"MONDO:0800099"	"RDH12-related recessive retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19977"	"RDH12"	"MONDO:0800099"	"RDH12-related recessive retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd51db77-53c3-4f89-9a4c-c92bbe182d7e-2022-03-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bd51db77-53c3-4f89-9a4c-c92bbe182d7e"	"2024-04-21"
"GENCC_000102-HGNC_9940-MONDO_0100443-HP_0000007-GENCC_100001"	"HGNC:9940"	"RDH5"	"MONDO:0100443"	"RDH5-related retinopathy"	"MONDO:0100443"	"RDH5-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9940"	"RDH5"	"MONDO:0100443"	"RDH5-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-09-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5399fd62-ca69-4665-b3ba-c15ceefbf6d9-2021-09-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5399fd62-ca69-4665-b3ba-c15ceefbf6d9"	"2024-04-21"
"GENCC_000102-HGNC_9944-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:9944"	"RDX"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9944"	"RDX"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-01-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf494e5-7335-4e2a-8b50-75cf8412a9d0-2018-01-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2cf494e5-7335-4e2a-8b50-75cf8412a9d0"	"2024-04-21"
"GENCC_000102-HGNC_9948-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:9948"	"RECQL"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9948"	"RECQL"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2016-09-14 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8701"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8701"	"2024-04-21"
"GENCC_000102-HGNC_9948-MONDO_0016419-HP_0000006-GENCC_100005"	"HGNC:9948"	"RECQL"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9948"	"RECQL"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-03-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_777b2a5c-459f-4eee-8a6d-e8bf15b88aca-2023-03-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"777b2a5c-459f-4eee-8a6d-e8bf15b88aca"	"2024-04-21"
"GENCC_000102-HGNC_9949-MONDO_0010002-HP_0000007-GENCC_100001"	"HGNC:9949"	"RECQL4"	"MONDO:0010002"	"Rothmund-Thomson syndrome"	"MONDO:0010002"	"Rothmund-Thomson syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9949"	"RECQL4"	"MONDO:0010002"	"Rothmund-Thomson syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbf00cfa-ac36-4eb0-94c4-69b05014e0f6-2018-10-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dbf00cfa-ac36-4eb0-94c4-69b05014e0f6"	"2024-04-21"
"GENCC_000102-HGNC_9954-MONDO_0030498-HP_0000007-GENCC_100003"	"HGNC:9954"	"REL"	"MONDO:0030498"	"immunodeficiency 92"	"MONDO:0030498"	"immunodeficiency 92"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9954"	"REL"	"MONDO:0030498"	"immunodeficiency 92"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-03-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed422cfb-0cf3-44ec-8f36-5faace1a577d-2023-03-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ed422cfb-0cf3-44ec-8f36-5faace1a577d"	"2024-04-21"
"GENCC_000102-HGNC_9955-MONDO_0035694-HP_0000006-GENCC_100001"	"HGNC:9955"	"RELA"	"MONDO:0035694"	"combined immunodeficiency due to RELA haploinsufficiency"	"MONDO:0035694"	"combined immunodeficiency due to RELA haploinsufficiency"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9955"	"RELA"	"MONDO:0035694"	"combined immunodeficiency due to RELA haploinsufficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e0145f5-c001-420c-9591-c6583862a7ca-2023-09-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1e0145f5-c001-420c-9591-c6583862a7ca"	"2024-04-21"
"GENCC_000102-HGNC_9956-MONDO_0054696-HP_0000007-GENCC_100004"	"HGNC:9956"	"RELB"	"MONDO:0054696"	"immunodeficiency 53"	"MONDO:0054696"	"immunodeficiency 53"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9956"	"RELB"	"MONDO:0054696"	"immunodeficiency 53"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb3415ab-4fa5-4f53-8ae4-7b4c620a3391-2023-03-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eb3415ab-4fa5-4f53-8ae4-7b4c620a3391"	"2024-04-21"
"GENCC_000102-HGNC_9957-MONDO_0019450-HP_0000007-GENCC_100001"	"HGNC:9957"	"RELN"	"MONDO:0019450"	"lissencephaly with cerebellar hypoplasia"	"MONDO:0019450"	"lissencephaly with cerebellar hypoplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9957"	"RELN"	"MONDO:0019450"	"lissencephaly with cerebellar hypoplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-04 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28da7e7d-fa9c-4f7a-8962-ece6f572adc7-2023-12-04T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"28da7e7d-fa9c-4f7a-8962-ece6f572adc7"	"2024-04-21"
"GENCC_000102-HGNC_9957-MONDO_0100038-HP_0000006-GENCC_100005"	"HGNC:9957"	"RELN"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9957"	"RELN"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-07-19 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c654081c-5abd-4f86-a3f7-90d7f117b93d-2023-07-19T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c654081c-5abd-4f86-a3f7-90d7f117b93d"	"2024-04-21"
"GENCC_000102-HGNC_9958-MONDO_0009970-HP_0000007-GENCC_100001"	"HGNC:9958"	"REN"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9958"	"REN"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a9a43c4-771a-4a73-b66f-dd99ab76aeec-2020-10-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9a9a43c4-771a-4a73-b66f-dd99ab76aeec"	"2024-04-21"
"GENCC_000102-HGNC_9958-MONDO_0013128-HP_0000006-GENCC_100001"	"HGNC:9958"	"REN"	"MONDO:0013128"	"familial juvenile hyperuricemic nephropathy type 2"	"MONDO:0013128"	"familial juvenile hyperuricemic nephropathy type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9958"	"REN"	"MONDO:0013128"	"familial juvenile hyperuricemic nephropathy type 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cae92b57-f5b9-4000-9a42-72161f2d7dd3-2020-10-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cae92b57-f5b9-4000-9a42-72161f2d7dd3"	"2024-04-21"
"GENCC_000102-HGNC_9965-MONDO_0100465-HP_0000006-GENCC_100001"	"HGNC:9965"	"RERE"	"MONDO:0100465"	"complex neurodevelopmental disorder with or without congenital anomalies"	"MONDO:0100465"	"complex neurodevelopmental disorder with or without congenital anomalies"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9965"	"RERE"	"MONDO:0100465"	"complex neurodevelopmental disorder with or without congenital anomalies"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdf18409-7db7-4934-9bc7-99eea21d9058-2023-03-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bdf18409-7db7-4934-9bc7-99eea21d9058"	"2024-04-21"
"GENCC_000102-HGNC_9967-MONDO_0008082-HP_0000006-GENCC_100001"	"HGNC:9967"	"RET"	"MONDO:0008082"	"multiple endocrine neoplasia type 2B"	"MONDO:0008082"	"multiple endocrine neoplasia type 2B"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9967"	"RET"	"MONDO:0008082"	"multiple endocrine neoplasia type 2B"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-14 01:03:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e4425f0-0900-43c3-aac4-5b37554be386-2020-05-14T010345.543Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5e4425f0-0900-43c3-aac4-5b37554be386"	"2024-04-21"
"GENCC_000102-HGNC_9967-MONDO_0008234-HP_0000006-GENCC_100001"	"HGNC:9967"	"RET"	"MONDO:0008234"	"multiple endocrine neoplasia type 2A"	"MONDO:0008234"	"multiple endocrine neoplasia type 2A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9967"	"RET"	"MONDO:0008234"	"multiple endocrine neoplasia type 2A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-14 00:59:52"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5f3c875-2438-4bfe-b785-b86d7d3e6507-2020-05-14T005952.060Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c5f3c875-2438-4bfe-b785-b86d7d3e6507"	"2024-04-21"
"GENCC_000102-HGNC_30220-MONDO_0012783-HP_0000007-GENCC_100003"	"HGNC:30220"	"RFT1"	"MONDO:0012783"	"RFT1-congenital disorder of glycosylation"	"MONDO:0012783"	"RFT1-congenital disorder of glycosylation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30220"	"RFT1"	"MONDO:0012783"	"RFT1-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-09-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_850304c8-4ac4-4d58-aaee-1ffa577cccf7-2023-09-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"850304c8-4ac4-4d58-aaee-1ffa577cccf7"	"2024-04-21"
"GENCC_000102-HGNC_9986-MONDO_0008855-HP_0000007-GENCC_100001"	"HGNC:9986"	"RFX5"	"MONDO:0008855"	"MHC class II deficiency"	"MONDO:0008855"	"MHC class II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9986"	"RFX5"	"MONDO:0008855"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_430c4041-5e07-45d8-bea5-eaa925a18a72-2023-06-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"430c4041-5e07-45d8-bea5-eaa925a18a72"	"2024-04-21"
"GENCC_000102-HGNC_9987-MONDO_0008855-HP_0000007-GENCC_100001"	"HGNC:9987"	"RFXANK"	"MONDO:0008855"	"MHC class II deficiency"	"MONDO:0008855"	"MHC class II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9987"	"RFXANK"	"MONDO:0008855"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-17 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbfd1148-ab31-4ab2-97bb-9b95387e9313-2022-11-17T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fbfd1148-ab31-4ab2-97bb-9b95387e9313"	"2024-04-21"
"GENCC_000102-HGNC_9988-MONDO_0008855-HP_0000007-GENCC_100001"	"HGNC:9988"	"RFXAP"	"MONDO:0008855"	"MHC class II deficiency"	"MONDO:0008855"	"MHC class II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9988"	"RFXAP"	"MONDO:0008855"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53b17c5d-ccea-4674-8746-a2bc39ad95f0-2023-06-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"53b17c5d-ccea-4674-8746-a2bc39ad95f0"	"2024-04-21"
"GENCC_000102-HGNC_10004-MONDO_0012033-HP_0000007-GENCC_100003"	"HGNC:10004"	"RGS9"	"MONDO:0012033"	"bradyopsia"	"MONDO:0012033"	"bradyopsia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10004"	"RGS9"	"MONDO:0012033"	"bradyopsia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-09-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f90aa6cd-9e08-4fab-b6c3-570beb8232dd-2021-09-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f90aa6cd-9e08-4fab-b6c3-570beb8232dd"	"2024-04-21"
"GENCC_000102-HGNC_20788-MONDO_0007856-HP_0000006-GENCC_100001"	"HGNC:20788"	"RHBDF2"	"MONDO:0007856"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"MONDO:0007856"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20788"	"RHBDF2"	"MONDO:0007856"	"palmoplantar keratoderma-esophageal carcinoma syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 21:22:32"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7e72765-1a53-44fb-bfee-9e5923507bbe-2020-07-30T212232.808Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b7e72765-1a53-44fb-bfee-9e5923507bbe"	"2024-04-21"
"GENCC_000102-HGNC_18756-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:18756"	"RHOBTB2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18756"	"RHOBTB2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-16 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdb97806-9f55-42d1-ab27-b6222faef8ce-2024-01-16T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cdb97806-9f55-42d1-ab27-b6222faef8ce"	"2024-04-21"
"GENCC_000102-HGNC_18756-MONDO_0100038-HP_0000007-GENCC_100001"	"HGNC:18756"	"RHOBTB2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18756"	"RHOBTB2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-16 20:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd041c1e-57d9-452d-ba92-f0bb297f067e-2024-01-16T200000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dd041c1e-57d9-452d-ba92-f0bb297f067e"	"2024-04-21"
"GENCC_000102-HGNC_686-MONDO_0032666-HP_0000007-GENCC_100004"	"HGNC:686"	"RHOH"	"MONDO:0032666"	"epidermodysplasia verruciformis, susceptibility to, 4"	"MONDO:0032666"	"epidermodysplasia verruciformis, susceptibility to, 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:686"	"RHOH"	"MONDO:0032666"	"epidermodysplasia verruciformis, susceptibility to, 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-02 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6b27fc4-bd58-429f-bf1e-326786667f96-2023-03-02T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f6b27fc4-bd58-429f-bf1e-326786667f96"	"2024-04-21"
"GENCC_000102-HGNC_18750-MONDO_0013115-HP_0000007-GENCC_100001"	"HGNC:18750"	"RIN2"	"MONDO:0013115"	"RIN2 syndrome"	"MONDO:0013115"	"RIN2 syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18750"	"RIN2"	"MONDO:0013115"	"RIN2 syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7427a25e-68a1-4e1b-b951-f1a1d7b1e52b-2023-12-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7427a25e-68a1-4e1b-b951-f1a1d7b1e52b"	"2024-04-21"
"GENCC_000102-HGNC_21876-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:21876"	"RINT1"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21876"	"RINT1"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2016-09-14 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8703"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8703"	"2024-04-21"
"GENCC_000102-HGNC_21876-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:21876"	"RINT1"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21876"	"RINT1"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-03-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d523910c-67e4-4cec-82a2-d7803957ec02-2023-03-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d523910c-67e4-4cec-82a2-d7803957ec02"	"2024-04-21"
"GENCC_000102-HGNC_13872-MONDO_0019497-HP_0000007-GENCC_100003"	"HGNC:13872"	"RIPOR2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13872"	"RIPOR2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2018-09-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed7e0813-4e94-40a9-b3ef-ef90d5c4dce4-2018-09-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ed7e0813-4e94-40a9-b3ef-ef90d5c4dce4"	"2024-04-21"
"GENCC_000102-HGNC_10023-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:10023"	"RIT1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10023"	"RIT1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_240565fc-61b9-4ff8-9f5a-85938f17cdd9-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"240565fc-61b9-4ff8-9f5a-85938f17cdd9"	"2024-04-21"
"GENCC_000102-HGNC_10024-MONDO_0100444-HP_0000007-GENCC_100001"	"HGNC:10024"	"RLBP1"	"MONDO:0100444"	"RLBP1-related retinopathy"	"MONDO:0100444"	"RLBP1-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10024"	"RLBP1"	"MONDO:0100444"	"RLBP1-related retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8c69db5-8d29-40af-85f0-59471ce0c62c-2021-06-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d8c69db5-8d29-40af-85f0-59471ce0c62c"	"2024-04-21"
"GENCC_000102-HGNC_21176-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:21176"	"RMND1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21176"	"RMND1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e709765-beac-4f19-bcc0-181d0ce36f1b-2022-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7e709765-beac-4f19-bcc0-181d0ce36f1b"	"2024-04-21"
"GENCC_000102-HGNC_10031-MONDO_0009595-HP_0000007-GENCC_100001"	"HGNC:10031"	"RMRP"	"MONDO:0009595"	"cartilage-hair hypoplasia"	"MONDO:0009595"	"cartilage-hair hypoplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10031"	"RMRP"	"MONDO:0009595"	"cartilage-hair hypoplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 15:52:13"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7328b31-364b-4a7c-aaed-731b582cb716-2021-07-27T155213.681Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c7328b31-364b-4a7c-aaed-731b582cb716"	"2024-04-21"
"GENCC_000102-HGNC_18466-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:18466"	"RNASEH1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18466"	"RNASEH1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-01-14 21:38:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcf8b7a4-7bd5-45fe-824c-6a90825620f7-2021-01-14T213824.328Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fcf8b7a4-7bd5-45fe-824c-6a90825620f7"	"2024-04-21"
"GENCC_000102-HGNC_26661-MONDO_0012764-HP_0000007-GENCC_100001"	"HGNC:26661"	"RNF168"	"MONDO:0012764"	"RIDDLE syndrome"	"MONDO:0012764"	"RIDDLE syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26661"	"RNF168"	"MONDO:0012764"	"RIDDLE syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2eab353f-d7ed-4f22-883e-0b62c7bc4f9b-2022-08-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2eab353f-d7ed-4f22-883e-0b62c7bc4f9b"	"2024-04-21"
"GENCC_000102-HGNC_18505-MONDO_0014919-HP_0000006-GENCC_100001"	"HGNC:18505"	"RNF43"	"MONDO:0014919"	"sessile serrated polyposis cancer syndrome"	"MONDO:0014919"	"sessile serrated polyposis cancer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18505"	"RNF43"	"MONDO:0014919"	"sessile serrated polyposis cancer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-30 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9abf2a1d-21a7-4ef7-99c7-b0b37d5acf38-2022-12-30T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9abf2a1d-21a7-4ef7-99c7-b0b37d5acf38"	"2024-04-21"
"GENCC_000102-HGNC_13433-MONDO_0020790-HP_0000007-GENCC_100001"	"HGNC:13433"	"ROBO3"	"MONDO:0020790"	"gaze palsy, familial horizontal, with progressive scoliosis 1"	"MONDO:0020790"	"gaze palsy, familial horizontal, with progressive scoliosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13433"	"ROBO3"	"MONDO:0020790"	"gaze palsy, familial horizontal, with progressive scoliosis 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_257a59f3-1f00-4bd8-b255-793bc692bc9c-2022-07-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"257a59f3-1f00-4bd8-b255-793bc692bc9c"	"2024-04-21"
"GENCC_000102-HGNC_29478-MONDO_0009185-HP_0000007-GENCC_100001"	"HGNC:29478"	"ROGDI"	"MONDO:0009185"	"amelocerebrohypohidrotic syndrome"	"MONDO:0009185"	"amelocerebrohypohidrotic syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29478"	"ROGDI"	"MONDO:0009185"	"amelocerebrohypohidrotic syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc4132b5-fd80-440b-b7ae-65f4d28f33f1-2022-06-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dc4132b5-fd80-440b-b7ae-65f4d28f33f1"	"2024-04-21"
"GENCC_000102-HGNC_10256-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:10256"	"ROR1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10256"	"ROR1"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-06-15 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdee1ffc-d8bd-4188-acb6-5fad8f5902a6-2022-06-15T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fdee1ffc-d8bd-4188-acb6-5fad8f5902a6"	"2024-04-21"
"GENCC_000102-HGNC_10259-MONDO_0005027-HP_0000006-GENCC_100003"	"HGNC:10259"	"RORB"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10259"	"RORB"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-09-21 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88c55f22-3f6f-467a-b38b-267f93d6cc9a-2022-09-21T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"88c55f22-3f6f-467a-b38b-267f93d6cc9a"	"2024-04-21"
"GENCC_000102-HGNC_10263-MONDO_0800400-HP_0032113-GENCC_100001"	"HGNC:10263"	"RP1"	"MONDO:0800400"	"RP1-related dominant retinopathy"	"MONDO:0800400"	"RP1-related dominant retinopathy"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:10263"	"RP1"	"MONDO:0800400"	"RP1-related dominant retinopathy"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12feacf6-5c08-4cf7-9879-0ed6c134bf81-2022-09-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"12feacf6-5c08-4cf7-9879-0ed6c134bf81"	"2024-04-21"
"GENCC_000102-HGNC_10263-MONDO_0800399-HP_0000007-GENCC_100001"	"HGNC:10263"	"RP1"	"MONDO:0800399"	"RP1-related recessive retinopathy"	"MONDO:0800399"	"RP1-related recessive retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10263"	"RP1"	"MONDO:0800399"	"RP1-related recessive retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cbd531f-7c23-4745-a3da-38a2db421fc3-2022-07-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8cbd531f-7c23-4745-a3da-38a2db421fc3"	"2024-04-21"
"GENCC_000102-HGNC_10274-MONDO_0100442-HP_0001417-GENCC_100001"	"HGNC:10274"	"RP2"	"MONDO:0100442"	"RP2-related retinopathy"	"MONDO:0100442"	"RP2-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:10274"	"RP2"	"MONDO:0100442"	"RP2-related retinopathy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-02 21:49:41"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_75e3203d-3841-49eb-84d4-e6238eda55ea-2022-03-02T214941.540Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"75e3203d-3841-49eb-84d4-e6238eda55ea"	"2024-04-21"
"GENCC_000102-HGNC_10294-MONDO_0100368-HP_0000007-GENCC_100001"	"HGNC:10294"	"RPE65"	"MONDO:0100368"	"RPE65-related recessive retinopathy"	"MONDO:0100368"	"RPE65-related recessive retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10294"	"RPE65"	"MONDO:0100368"	"RPE65-related recessive retinopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-24 21:41:58"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_375ffa04-a8d9-427e-8948-f913bc8ff68d-2022-05-24T214158.160Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"375ffa04-a8d9-427e-8948-f913bc8ff68d"	"2024-04-21"
"GENCC_000102-HGNC_10294-MONDO_0100452-HP_0000006-GENCC_100002"	"HGNC:10294"	"RPE65"	"MONDO:0100452"	"RPE65-related dominant retinopathy"	"MONDO:0100452"	"RPE65-related dominant retinopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10294"	"RPE65"	"MONDO:0100452"	"RPE65-related dominant retinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-02-07 02:43:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a45f0ada-a32b-406e-b714-790a0cd4a6a2-2022-02-07T024303.928Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a45f0ada-a32b-406e-b714-790a0cd4a6a2"	"2024-04-21"
"GENCC_000102-HGNC_10295-MONDO_0100437-HP_0001417-GENCC_100001"	"HGNC:10295"	"RPGR"	"MONDO:0100437"	"RPGR-related retinopathy"	"MONDO:0100437"	"RPGR-related retinopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:10295"	"RPGR"	"MONDO:0100437"	"RPGR-related retinopathy"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ad94c7-d914-4a84-ab33-597c8d4bafdd-2022-08-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"57ad94c7-d914-4a84-ab33-597c8d4bafdd"	"2024-04-21"
"GENCC_000102-HGNC_10298-MONDO_0020119-HP_0001417-GENCC_100003"	"HGNC:10298"	"RPL10"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:10298"	"RPL10"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_974ac8bb-f7b1-4480-869a-e9ef4b8b3fa3-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"974ac8bb-f7b1-4480-869a-e9ef4b8b3fa3"	"2024-04-21"
"GENCC_000102-HGNC_10360-MONDO_0012937-HP_0000006-GENCC_100001"	"HGNC:10360"	"RPL5"	"MONDO:0012937"	"Diamond-Blackfan anemia 6"	"MONDO:0012937"	"Diamond-Blackfan anemia 6"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10360"	"RPL5"	"MONDO:0012937"	"Diamond-Blackfan anemia 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edb6a96b-92d7-4c57-8613-e055d1bdd678-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"edb6a96b-92d7-4c57-8613-e055d1bdd678"	"2024-04-21"
"GENCC_000102-HGNC_10383-MONDO_0015253-HP_0000006-GENCC_100001"	"HGNC:10383"	"RPS10"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10383"	"RPS10"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-01-19 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3205"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3205"	"2024-04-21"
"GENCC_000102-HGNC_10402-MONDO_0015253-HP_0000006-GENCC_100001"	"HGNC:10402"	"RPS19"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10402"	"RPS19"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bceef5ee-7596-4a90-91ce-b36385f9669b-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bceef5ee-7596-4a90-91ce-b36385f9669b"	"2024-04-21"
"GENCC_000102-HGNC_10411-MONDO_0015253-HP_0000006-GENCC_100001"	"HGNC:10411"	"RPS24"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10411"	"RPS24"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-01-19 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3206"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3206"	"2024-04-21"
"GENCC_000102-HGNC_10432-MONDO_0010561-HP_0001417-GENCC_100001"	"HGNC:10432"	"RPS6KA3"	"MONDO:0010561"	"Coffin-Lowry syndrome"	"MONDO:0010561"	"Coffin-Lowry syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:10432"	"RPS6KA3"	"MONDO:0010561"	"Coffin-Lowry syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-28 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af32a931-1d55-432f-82cf-ce87f6c26580-2019-05-28T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"af32a931-1d55-432f-82cf-ce87f6c26580"	"2024-04-21"
"GENCC_000102-HGNC_10436-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:10436"	"RPS6KB1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10436"	"RPS6KB1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-09-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e24747c-18e6-4db0-8ee7-1259bc74c4da-2023-09-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2e24747c-18e6-4db0-8ee7-1259bc74c4da"	"2024-04-21"
"GENCC_000102-HGNC_10447-MONDO_0018997-HP_0000006-GENCC_100004"	"HGNC:10447"	"RRAS"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10447"	"RRAS"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96280a14-d8cd-4c9b-b3e0-d5fcd8bf9ef6-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"96280a14-d8cd-4c9b-b3e0-d5fcd8bf9ef6"	"2024-04-21"
"GENCC_000102-HGNC_17271-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:17271"	"RRAS2"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17271"	"RRAS2"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5742615-3820-41dd-a523-e660a498f9e8-2022-12-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c5742615-3820-41dd-a523-e660a498f9e8"	"2024-04-21"
"GENCC_000102-HGNC_10457-MONDO_0010725-HP_0001417-GENCC_100001"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked retinoschisis"	"MONDO:0010725"	"X-linked retinoschisis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:10457"	"RS1"	"MONDO:0010725"	"X-linked retinoschisis"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-12-18 16:58:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_061adaaf-8b09-42e4-ae31-9b9c03d6e944-2020-12-18T165803.135Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"061adaaf-8b09-42e4-ae31-9b9c03d6e944"	"2024-04-21"
"GENCC_000102-HGNC_12371-MONDO_0014202-HP_0000007-GENCC_100001"	"HGNC:12371"	"RSPH1"	"MONDO:0014202"	"primary ciliary dyskinesia 24"	"MONDO:0014202"	"primary ciliary dyskinesia 24"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:12371"	"RSPH1"	"MONDO:0014202"	"primary ciliary dyskinesia 24"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-07 11:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2bdb2e5-9659-46af-b306-e01207f31174-2022-06-07T110000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f2bdb2e5-9659-46af-b306-e01207f31174"	"2024-04-21"
"GENCC_000102-HGNC_21558-MONDO_0012978-HP_0000007-GENCC_100001"	"HGNC:21558"	"RSPH4A"	"MONDO:0012978"	"primary ciliary dyskinesia 11"	"MONDO:0012978"	"primary ciliary dyskinesia 11"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21558"	"RSPH4A"	"MONDO:0012978"	"primary ciliary dyskinesia 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-05 15:04:44"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f876804-e14a-4c7e-a826-232c7f445c7f-2022-04-05T150444.668Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6f876804-e14a-4c7e-a826-232c7f445c7f"	"2024-04-21"
"GENCC_000102-HGNC_21057-MONDO_0012979-HP_0000007-GENCC_100001"	"HGNC:21057"	"RSPH9"	"MONDO:0012979"	"primary ciliary dyskinesia 12"	"MONDO:0012979"	"primary ciliary dyskinesia 12"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21057"	"RSPH9"	"MONDO:0012979"	"primary ciliary dyskinesia 12"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25b8ea38-8de2-45b7-95a1-51b33affb747-2023-10-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"25b8ea38-8de2-45b7-95a1-51b33affb747"	"2024-04-21"
"GENCC_000102-HGNC_10471-MONDO_0011071-HP_0000006-GENCC_100001"	"HGNC:10471"	"RUNX1"	"MONDO:0011071"	"hereditary thrombocytopenia and hematologic cancer predisposition syndrome"	"MONDO:0011071"	"hereditary thrombocytopenia and hematologic cancer predisposition syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10471"	"RUNX1"	"MONDO:0011071"	"hereditary thrombocytopenia and hematologic cancer predisposition syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06aed341-58db-459b-a750-7142e29b420b-2018-06-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"06aed341-58db-459b-a750-7142e29b420b"	"2024-04-21"
"GENCC_000102-HGNC_13530-MONDO_0018939-HP_0000007-GENCC_100001"	"HGNC:13530"	"RXYLT1"	"MONDO:0018939"	"muscle-eye-brain disease"	"MONDO:0018939"	"muscle-eye-brain disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13530"	"RXYLT1"	"MONDO:0018939"	"muscle-eye-brain disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31f6e2b9-8355-4631-8f6b-dadad24dabc4-2023-07-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"31f6e2b9-8355-4631-8f6b-dadad24dabc4"	"2024-04-21"
"GENCC_000102-HGNC_10483-MONDO_0007783-HP_0000006-GENCC_100001"	"HGNC:10483"	"RYR1"	"MONDO:0007783"	"malignant hyperthermia, susceptibility to, 1"	"MONDO:0007783"	"malignant hyperthermia, susceptibility to, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10483"	"RYR1"	"MONDO:0007783"	"malignant hyperthermia, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcd5e6ba-ef77-434c-9ec6-47f72f597bfe-2020-11-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bcd5e6ba-ef77-434c-9ec6-47f72f597bfe"	"2024-04-21"
"GENCC_000102-HGNC_10483-MONDO_0100150-HP_0000007-GENCC_100001"	"HGNC:10483"	"RYR1"	"MONDO:0100150"	"RYR1-related myopathy"	"MONDO:0100150"	"RYR1-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10483"	"RYR1"	"MONDO:0100150"	"RYR1-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5e4ff9a-94ad-453f-b2de-76deb98fe4ca-2020-07-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d5e4ff9a-94ad-453f-b2de-76deb98fe4ca"	"2024-04-21"
"GENCC_000102-HGNC_10483-MONDO_0100150-HP_0000006-GENCC_100001"	"HGNC:10483"	"RYR1"	"MONDO:0100150"	"RYR1-related myopathy"	"MONDO:0100150"	"RYR1-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10483"	"RYR1"	"MONDO:0100150"	"RYR1-related myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbd82373-705c-4b60-8b73-147ed461d357-2020-10-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fbd82373-705c-4b60-8b73-147ed461d357"	"2024-04-21"
"GENCC_000102-HGNC_10484-MONDO_0017990-HP_0000006-GENCC_100001"	"HGNC:10484"	"RYR2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10484"	"RYR2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1da07a67-9d04-448b-843b-39dac372cb59-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1da07a67-9d04-448b-843b-39dac372cb59"	"2024-04-21"
"GENCC_000102-HGNC_10484-MONDO_0005045-HP_0000006-GENCC_100004"	"HGNC:10484"	"RYR2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10484"	"RYR2"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ac9dd09-674f-4d67-94da-234ffb4e5070-2022-12-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ac9dd09-674f-4d67-94da-234ffb4e5070"	"2024-04-21"
"GENCC_000102-HGNC_10484-MONDO_0016587-HP_0000006-GENCC_100006"	"HGNC:10484"	"RYR2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10484"	"RYR2"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2019-07-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52fa7dee-4daa-4685-9461-f39c57a22f05-2019-07-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"52fa7dee-4daa-4685-9461-f39c57a22f05"	"2024-04-21"
"GENCC_000102-HGNC_10485-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:10485"	"RYR3"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10485"	"RYR3"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-10-03 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a277276e-7efa-45c9-ad01-74e9aa2dea63-2023-10-03T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a277276e-7efa-45c9-ad01-74e9aa2dea63"	"2024-04-21"
"GENCC_000102-HGNC_10485-MONDO_0019952-HP_0000007-GENCC_100005"	"HGNC:10485"	"RYR3"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10485"	"RYR3"	"MONDO:0019952"	"congenital myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2023-08-28 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f234219f-23fd-449f-9d7e-4c1731af3309-2023-08-28T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f234219f-23fd-449f-9d7e-4c1731af3309"	"2024-04-21"
"GENCC_000102-HGNC_3169-MONDO_0019497-HP_0000007-GENCC_100002"	"HGNC:3169"	"S1PR2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3169"	"S1PR2"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2017-03-02 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8405"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8405"	"2024-04-21"
"GENCC_000102-HGNC_10536-MONDO_0010008-HP_0000007-GENCC_100004"	"HGNC:10536"	"SARDH"	"MONDO:0010008"	"sarcosinemia"	"MONDO:0010008"	"sarcosinemia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10536"	"SARDH"	"MONDO:0010008"	"sarcosinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b994b6f-f296-45af-9d52-c1d0b211ef74-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2b994b6f-f296-45af-9d52-c1d0b211ef74"	"2024-04-21"
"GENCC_000102-HGNC_10537-MONDO_0060577-HP_0000007-GENCC_100004"	"HGNC:10537"	"SARS1"	"MONDO:0060577"	"neurodevelopmental disorder with microcephaly, ataxia, and seizures"	"MONDO:0060577"	"neurodevelopmental disorder with microcephaly, ataxia, and seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10537"	"SARS1"	"MONDO:0060577"	"neurodevelopmental disorder with microcephaly, ataxia, and seizures"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-07-18 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad14a75e-47ae-44c8-b122-f6ce95439143-2023-07-18T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ad14a75e-47ae-44c8-b122-f6ce95439143"	"2024-04-21"
"GENCC_000102-HGNC_17697-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:17697"	"SARS2"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:17697"	"SARS2"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d49e2a27-bd5f-4bc5-8d41-e3f0b4b043ad-2022-06-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d49e2a27-bd5f-4bc5-8d41-e3f0b4b043ad"	"2024-04-21"
"GENCC_000102-HGNC_15975-MONDO_0010730-HP_0001417-GENCC_100002"	"HGNC:15975"	"SASH3"	"MONDO:0010730"	"combined immunodeficiency, X-linked"	"MONDO:0010730"	"combined immunodeficiency, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:15975"	"SASH3"	"MONDO:0010730"	"combined immunodeficiency, X-linked"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-04-25 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f112c27-e610-425d-bbc5-a6d1d0de4da1-2023-04-25T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7f112c27-e610-425d-bbc5-a6d1d0de4da1"	"2024-04-21"
"GENCC_000102-HGNC_21637-MONDO_0100147-HP_0000006-GENCC_100001"	"HGNC:21637"	"SATB2"	"MONDO:0100147"	"SATB2 associated disorder"	"MONDO:0100147"	"SATB2 associated disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21637"	"SATB2"	"MONDO:0100147"	"SATB2 associated disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44d14081-fa32-4159-9049-35f510d2351a-2020-09-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"44d14081-fa32-4159-9049-35f510d2351a"	"2024-04-21"
"GENCC_000102-HGNC_19440-MONDO_0009833-HP_0000007-GENCC_100001"	"HGNC:19440"	"SBDS"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19440"	"SBDS"	"MONDO:0009833"	"Shwachman-Diamond syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 21:04:01"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c2a84f0-e42d-487f-a2af-5b536a30d30c-2020-07-30T210401.699Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7c2a84f0-e42d-487f-a2af-5b536a30d30c"	"2024-04-21"
"GENCC_000102-HGNC_10542-MONDO_0014117-HP_0000007-GENCC_100003"	"HGNC:10542"	"SBF1"	"MONDO:0014117"	"Charcot-Marie-Tooth disease type 4B3"	"MONDO:0014117"	"Charcot-Marie-Tooth disease type 4B3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10542"	"SBF1"	"MONDO:0014117"	"Charcot-Marie-Tooth disease type 4B3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-11-20 02:22:38"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0f814d9-02db-4c0c-8e1c-20a7759d993f-2021-11-20T022238.296Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c0f814d9-02db-4c0c-8e1c-20a7759d993f"	"2024-04-21"
"GENCC_000102-HGNC_2135-MONDO_0011475-HP_0000007-GENCC_100001"	"HGNC:2135"	"SBF2"	"MONDO:0011475"	"Charcot-Marie-Tooth disease type 4B2"	"MONDO:0011475"	"Charcot-Marie-Tooth disease type 4B2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2135"	"SBF2"	"MONDO:0011475"	"Charcot-Marie-Tooth disease type 4B2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-22 20:13:09"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01893bf4-e95d-4206-9d2e-e3822f778b7a-2021-03-22T201309.257Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"01893bf4-e95d-4206-9d2e-e3822f778b7a"	"2024-04-21"
"GENCC_000102-HGNC_1665-MONDO_0020074-HP_0000007-GENCC_100001"	"HGNC:1665"	"SCARB2"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1665"	"SCARB2"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-23 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc556613-cf24-44ee-8354-98ce91f78d7d-2020-08-23T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dc556613-cf24-44ee-8354-98ce91f78d7d"	"2024-04-21"
"GENCC_000102-HGNC_10582-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:10582"	"SCN10A"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10582"	"SCN10A"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10161"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10161"	"2024-04-21"
"GENCC_000102-HGNC_10583-MONDO_0015365-HP_0000006-GENCC_100001"	"HGNC:10583"	"SCN11A"	"MONDO:0015365"	"autosomal dominant hereditary sensory and autonomic neuropathy"	"MONDO:0015365"	"autosomal dominant hereditary sensory and autonomic neuropathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10583"	"SCN11A"	"MONDO:0015365"	"obsolete autosomal dominant hereditary sensory and autonomic neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-25 02:00:07"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abe8c0db-503c-46fa-a2a6-e4d6071219d0-2022-02-25T020007.355Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"abe8c0db-503c-46fa-a2a6-e4d6071219d0"	"2024-04-21"
"GENCC_000102-HGNC_10585-MONDO_0100062-HP_0000006-GENCC_100002"	"HGNC:10585"	"SCN1A"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10585"	"SCN1A"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2019-10-25 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_529f9cae-ac00-47d1-94d5-52c98bf6e2a2-2019-10-25T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"529f9cae-ac00-47d1-94d5-52c98bf6e2a2"	"2024-04-21"
"GENCC_000102-HGNC_10585-MONDO_0018214-HP_0000006-GENCC_100001"	"HGNC:10585"	"SCN1A"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10585"	"SCN1A"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-09-06 19:43:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ac39f7a-0743-47b1-8efd-21e0ca836840-2019-09-06T194357.485Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5ac39f7a-0743-47b1-8efd-21e0ca836840"	"2024-04-21"
"GENCC_000102-HGNC_10585-MONDO_0100135-HP_0000006-GENCC_100001"	"HGNC:10585"	"SCN1A"	"MONDO:0100135"	"Dravet syndrome"	"MONDO:0100135"	"Dravet syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10585"	"SCN1A"	"MONDO:0100135"	"Dravet syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-08-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60334a15-c73e-42ce-b7d2-4796c2affde4-2019-08-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"60334a15-c73e-42ce-b7d2-4796c2affde4"	"2024-04-21"
"GENCC_000102-HGNC_10585-MONDO_0000700-HP_0000006-GENCC_100003"	"HGNC:10585"	"SCN1A"	"MONDO:0000700"	"familial hemiplegic migraine"	"MONDO:0000700"	"familial hemiplegic migraine"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10585"	"SCN1A"	"MONDO:0000700"	"familial hemiplegic migraine"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-09-14 16:34:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8c1e158-983d-4547-a739-7781961e5bb8-2021-09-14T163408.306Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c8c1e158-983d-4547-a739-7781961e5bb8"	"2024-04-21"
"GENCC_000102-HGNC_10586-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:10586"	"SCN1B"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10586"	"SCN1B"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10158"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10158"	"2024-04-21"
"GENCC_000102-HGNC_10586-MONDO_0018214-HP_0000006-GENCC_100001"	"HGNC:10586"	"SCN1B"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10586"	"SCN1B"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91fb4b50-478b-4e3a-ac8a-a5cb7634a492-2022-12-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"91fb4b50-478b-4e3a-ac8a-a5cb7634a492"	"2024-04-21"
"GENCC_000102-HGNC_10586-MONDO_0100062-HP_0000007-GENCC_100001"	"HGNC:10586"	"SCN1B"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10586"	"SCN1B"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-04 21:10:51"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4c35c20-6e59-46cf-9347-852b80af8dcc-2022-01-04T211051.949Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d4c35c20-6e59-46cf-9347-852b80af8dcc"	"2024-04-21"
"GENCC_000102-HGNC_10588-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:10588"	"SCN2A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10588"	"SCN2A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-05-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a1b7361-5c9e-4803-844d-ad6606a0acdb-2019-05-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2a1b7361-5c9e-4803-844d-ad6606a0acdb"	"2024-04-21"
"GENCC_000102-HGNC_10589-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:10589"	"SCN2B"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10589"	"SCN2B"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10159"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10159"	"2024-04-21"
"GENCC_000102-HGNC_10590-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:10590"	"SCN3A"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10590"	"SCN3A"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-09 23:31:02"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9750183-c66c-4dd8-855e-9509fc9c25c6-2022-05-09T233102.697Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b9750183-c66c-4dd8-855e-9509fc9c25c6"	"2024-04-21"
"GENCC_000102-HGNC_20665-MONDO_0011001-HP_0000006-GENCC_100005"	"HGNC:20665"	"SCN3B"	"MONDO:0011001"	"Brugada syndrome 1"	"MONDO:0011001"	"Brugada syndrome 1"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20665"	"SCN3B"	"MONDO:0011001"	"Brugada syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10160"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10160"	"2024-04-21"
"GENCC_000102-HGNC_10591-MONDO_0100121-HP_0000007-GENCC_100001"	"HGNC:10591"	"SCN4A"	"MONDO:0100121"	"SCN4A-related myopathy, autosomal recessive"	"MONDO:0100121"	"SCN4A-related myopathy, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10591"	"SCN4A"	"MONDO:0100121"	"SCN4A-related myopathy, autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f71b22d2-1ee8-46f6-9488-a86588edd7d3-2021-05-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f71b22d2-1ee8-46f6-9488-a86588edd7d3"	"2024-04-21"
"GENCC_000102-HGNC_10592-MONDO_0002442-HP_0000006-GENCC_100005"	"HGNC:10592"	"SCN4B"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10592"	"SCN4B"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e276096-21ab-42bc-866a-b1b4dcb01753-2018-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0e276096-21ab-42bc-866a-b1b4dcb01753"	"2024-04-21"
"GENCC_000102-HGNC_10593-MONDO_0015263-HP_0000006-GENCC_100001"	"HGNC:10593"	"SCN5A"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10593"	"SCN5A"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10165"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10165"	"2024-04-21"
"GENCC_000102-HGNC_10593-MONDO_0016587-HP_0000006-GENCC_100004"	"HGNC:10593"	"SCN5A"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10593"	"SCN5A"	"MONDO:0016587"	"arrhythmogenic right ventricular cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2019-06-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c1cdce2-c8de-442d-b0c4-5936919b310f-2019-06-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3c1cdce2-c8de-442d-b0c4-5936919b310f"	"2024-04-21"
"GENCC_000102-HGNC_10593-MONDO_0005021-HP_0000006-GENCC_100001"	"HGNC:10593"	"SCN5A"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10593"	"SCN5A"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-06 18:16:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53c90d2e-4d40-48ab-8761-b0158102c977-2020-11-06T181622.881Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"53c90d2e-4d40-48ab-8761-b0158102c977"	"2024-04-21"
"GENCC_000102-HGNC_10593-MONDO_0019171-HP_0000006-GENCC_100001"	"HGNC:10593"	"SCN5A"	"MONDO:0019171"	"familial long QT syndrome"	"MONDO:0019171"	"familial long QT syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10593"	"SCN5A"	"MONDO:0019171"	"familial long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-09-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab19e69c-50fb-41e3-8adf-4d27617f3d55-2018-09-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab19e69c-50fb-41e3-8adf-4d27617f3d55"	"2024-04-21"
"GENCC_000102-HGNC_10593-MONDO_0000453-HP_0000006-GENCC_100005"	"HGNC:10593"	"SCN5A"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10593"	"SCN5A"	"MONDO:0000453"	"short QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-10-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c89660b5-d048-48fb-9d35-6f78f8c2ff01-2020-10-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c89660b5-d048-48fb-9d35-6f78f8c2ff01"	"2024-04-21"
"GENCC_000102-HGNC_10593-MONDO_0017990-HP_0000006-GENCC_100005"	"HGNC:10593"	"SCN5A"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10593"	"SCN5A"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_caef7504-ac08-43d4-8512-86f344a888a6-2021-01-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"caef7504-ac08-43d4-8512-86f344a888a6"	"2024-04-21"
"GENCC_000102-HGNC_10596-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:10596"	"SCN8A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10596"	"SCN8A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-18 12:50:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f52993aa-ddee-483d-b15e-dbf21608d5a9-2018-07-18T125000.560Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f52993aa-ddee-483d-b15e-dbf21608d5a9"	"2024-04-21"
"GENCC_000102-HGNC_10597-MONDO_0005027-HP_0000006-GENCC_100006"	"HGNC:10597"	"SCN9A"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10597"	"SCN9A"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2021-03-09 16:36:49"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72a91ef6-e052-44a4-b14e-6a5ba93393ff-2021-03-09T163649.218Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"72a91ef6-e052-44a4-b14e-6a5ba93393ff"	"2024-04-21"
"GENCC_000102-HGNC_10599-MONDO_0009917-HP_0000007-GENCC_100002"	"HGNC:10599"	"SCNN1A"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"MONDO:0009917"	"pseudohypoaldosteronism, type IB1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10599"	"SCNN1A"	"MONDO:0009917"	"autosomal recessive pseudohypoaldosteronism type 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2021-11-18 01:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38f18fef-1443-4005-a358-31f7d3a96ee0-2021-11-18T013000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"38f18fef-1443-4005-a358-31f7d3a96ee0"	"2024-04-21"
"GENCC_000102-HGNC_10602-MONDO_0008323-HP_0000006-GENCC_100001"	"HGNC:10602"	"SCNN1G"	"MONDO:0008323"	"Liddle syndrome"	"MONDO:0008323"	"Liddle syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10602"	"SCNN1G"	"MONDO:0008323"	"Liddle syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-17 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60ce148e-eb8b-49c4-adec-ae98071f9cc2-2021-06-17T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"60ce148e-eb8b-49c4-adec-ae98071f9cc2"	"2024-04-21"
"GENCC_000102-HGNC_10603-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:10603"	"SCO1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10603"	"SCO1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90d9d757-a45e-4d35-af68-c1345e1d8c65-2022-02-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"90d9d757-a45e-4d35-af68-c1345e1d8c65"	"2024-04-21"
"GENCC_000102-HGNC_10604-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:10604"	"SCO2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10604"	"SCO2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-28 15:42:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_011dd1c7-94bb-4a70-8b95-cc25432a5ea2-2019-03-28T154245.471Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"011dd1c7-94bb-4a70-8b95-cc25432a5ea2"	"2024-04-21"
"GENCC_000102-HGNC_10606-MONDO_0013391-HP_0000007-GENCC_100003"	"HGNC:10606"	"SCP2"	"MONDO:0013391"	"sterol carrier protein 2 deficiency"	"MONDO:0013391"	"sterol carrier protein 2 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10606"	"SCP2"	"MONDO:0013391"	"sterol carrier protein 2 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea6abbdb-3724-4d1e-a31e-c61b0157a86a-2022-11-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ea6abbdb-3724-4d1e-a31e-c61b0157a86a"	"2024-04-21"
"GENCC_000102-HGNC_10680-MONDO_0017366-HP_0000006-GENCC_100001"	"HGNC:10680"	"SDHA"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10680"	"SDHA"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-17 01:17:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4833b4b4-071c-4062-9007-8b0f6896a54e-2021-06-17T011716.456Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4833b4b4-071c-4062-9007-8b0f6896a54e"	"2024-04-21"
"GENCC_000102-HGNC_10680-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:10680"	"SDHA"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10680"	"SDHA"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-05-20 19:09:35"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c5801d0-5839-47d9-81cc-a53cea959b57-2019-05-20T190935.665Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4c5801d0-5839-47d9-81cc-a53cea959b57"	"2024-04-21"
"GENCC_000102-HGNC_33867-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:33867"	"SDHAF1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:33867"	"SDHAF1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-02-12 20:11:33"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0baf56d2-40f8-465a-9b50-22f57481a5cb-2020-02-12T201133.569Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0baf56d2-40f8-465a-9b50-22f57481a5cb"	"2024-04-21"
"GENCC_000102-HGNC_33867-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:33867"	"SDHAF1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:33867"	"SDHAF1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-04 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e421e4d0-9618-4fad-bf20-a509d8d527ed-2023-12-04T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e421e4d0-9618-4fad-bf20-a509d8d527ed"	"2024-04-21"
"GENCC_000102-HGNC_26034-MONDO_0017366-HP_0000006-GENCC_100001"	"HGNC:26034"	"SDHAF2"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:26034"	"SDHAF2"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-17 02:00:32"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f70f16ee-a8b5-4f81-bd98-270fda25ffa4-2021-06-17T020032.120Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f70f16ee-a8b5-4f81-bd98-270fda25ffa4"	"2024-04-21"
"GENCC_000102-HGNC_10681-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:10681"	"SDHB"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10681"	"SDHB"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53015cfb-c54a-4436-9ebd-79ae3fdbf613-2022-03-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"53015cfb-c54a-4436-9ebd-79ae3fdbf613"	"2024-04-21"
"GENCC_000102-HGNC_10681-MONDO_0017366-HP_0000006-GENCC_100001"	"HGNC:10681"	"SDHB"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10681"	"SDHB"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-17 01:21:05"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5b8852d-1641-4c45-8aa2-57c2dfbac4ea-2021-06-17T012105.373Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b5b8852d-1641-4c45-8aa2-57c2dfbac4ea"	"2024-04-21"
"GENCC_000102-HGNC_10682-MONDO_0017366-HP_0000006-GENCC_100001"	"HGNC:10682"	"SDHC"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10682"	"SDHC"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-17 01:31:25"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c6e49d4-8117-4fc2-88cd-aad0017ce2c4-2021-06-17T013125.314Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8c6e49d4-8117-4fc2-88cd-aad0017ce2c4"	"2024-04-21"
"GENCC_000102-HGNC_10682-MONDO_0044970-HP_0000005-GENCC_100008"	"HGNC:10682"	"SDHC"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:10682"	"SDHC"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2022-03-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_909982e0-a53c-4a87-bf28-cdb563c8ae62-2022-03-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"909982e0-a53c-4a87-bf28-cdb563c8ae62"	"2024-04-21"
"GENCC_000102-HGNC_10683-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:10683"	"SDHD"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10683"	"SDHD"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-04-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9010c629-a86c-4f55-a45b-212b7aabdb6f-2022-04-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9010c629-a86c-4f55-a45b-212b7aabdb6f"	"2024-04-21"
"GENCC_000102-HGNC_10683-MONDO_0017366-HP_0000006-GENCC_100001"	"HGNC:10683"	"SDHD"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10683"	"SDHD"	"MONDO:0017366"	"hereditary pheochromocytoma-paraganglioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-17 01:53:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d0b732e-81e4-4834-8fe6-fe71f694399e-2021-06-17T015316.638Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9d0b732e-81e4-4834-8fe6-fe71f694399e"	"2024-04-21"
"GENCC_000102-HGNC_18276-MONDO_0100337-HP_0000006-GENCC_100003"	"HGNC:18276"	"SEC61A1"	"MONDO:0100337"	"SEC61A1 deficiency"	"MONDO:0100337"	"SEC61A1 deficiency"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18276"	"SEC61A1"	"MONDO:0100337"	"SEC61A1 deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-07-27 15:48:37"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ff61d15-19f9-42a2-8dc4-0a4071b562eb-2021-07-27T154837.287Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1ff61d15-19f9-42a2-8dc4-0a4071b562eb"	"2024-04-21"
"GENCC_000102-HGNC_16993-MONDO_0550003-HP_0000006-GENCC_100004"	"HGNC:16993"	"SEC61B"	"MONDO:0550003"	"SEC61B-related polycystic liver disease"	"MONDO:0550003"	"SEC61B-related polycystic liver disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16993"	"SEC61B"	"MONDO:0550003"	"SEC61B-related polycystic liver disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-08-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fc2c7f6-caef-4f23-82ba-2360a5eb0990-2023-08-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0fc2c7f6-caef-4f23-82ba-2360a5eb0990"	"2024-04-21"
"GENCC_000102-HGNC_21082-MONDO_0014860-HP_0000006-GENCC_100001"	"HGNC:21082"	"SEC63"	"MONDO:0014860"	"polycystic liver disease 2"	"MONDO:0014860"	"polycystic liver disease 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:21082"	"SEC63"	"MONDO:0014860"	"polycystic liver disease 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-23 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76312e16-e3b1-400a-8a22-4c0cca5e6918-2020-09-23T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"76312e16-e3b1-400a-8a22-4c0cca5e6918"	"2024-04-21"
"GENCC_000102-HGNC_10719-MONDO_0029144-HP_0000007-GENCC_100003"	"HGNC:10719"	"SELENBP1"	"MONDO:0029144"	"extraoral halitosis due to methanethiol oxidase deficiency"	"MONDO:0029144"	"extraoral halitosis due to methanethiol oxidase deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10719"	"SELENBP1"	"MONDO:0029144"	"extraoral halitosis due to methanethiol oxidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcd063e5-93af-47d2-a59d-3fef995df556-2022-11-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fcd063e5-93af-47d2-a59d-3fef995df556"	"2024-04-21"
"GENCC_000102-HGNC_15999-MONDO_0100100-HP_0000007-GENCC_100001"	"HGNC:15999"	"SELENON"	"MONDO:0100100"	"SELENON-related myopathy"	"MONDO:0100100"	"SELENON-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:15999"	"SELENON"	"MONDO:0100100"	"SELENON-related myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-27 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7485529e-a573-4a47-aa0f-7c0d7067ae49-2020-04-27T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7485529e-a573-4a47-aa0f-7c0d7067ae49"	"2024-04-21"
"GENCC_000102-HGNC_7323-MONDO_0017362-HP_0000006-GENCC_100003"	"HGNC:7323"	"SEPTIN9"	"MONDO:0017362"	"neuralgic amyotrophy"	"MONDO:0017362"	"neuralgic amyotrophy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7323"	"SEPTIN9"	"MONDO:0017362"	"neuralgic amyotrophy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-16 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d2bb3b1-6fd0-4ee9-8273-322c33597eff-2023-08-16T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0d2bb3b1-6fd0-4ee9-8273-322c33597eff"	"2024-04-21"
"GENCC_000102-HGNC_21061-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:21061"	"SERAC1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:21061"	"SERAC1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-01-14 21:33:56"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf6861ce-e13a-42c9-a4ff-942a83874bfd-2021-01-14T213356.750Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bf6861ce-e13a-42c9-a4ff-942a83874bfd"	"2024-04-21"
"GENCC_000102-HGNC_8950-MONDO_0019497-HP_0000007-GENCC_100003"	"HGNC:8950"	"SERPINB6"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8950"	"SERPINB6"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b84c49a8-3b02-4e07-a0c7-80394c0cf991-2022-11-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b84c49a8-3b02-4e07-a0c7-80394c0cf991"	"2024-04-21"
"GENCC_000102-HGNC_775-MONDO_0013144-HP_0032113-GENCC_100001"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-26 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd6376b1-1593-461f-bfc8-cec5cfb1c3f8-2020-02-26T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dd6376b1-1593-461f-bfc8-cec5cfb1c3f8"	"2024-04-21"
"GENCC_000102-HGNC_4838-MONDO_0012876-HP_0000006-GENCC_100001"	"HGNC:4838"	"SERPIND1"	"MONDO:0012876"	"heparin cofactor 2 deficiency"	"MONDO:0012876"	"heparin cofactor 2 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4838"	"SERPIND1"	"MONDO:0012876"	"heparin cofactor 2 deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-11-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0888745c-f1e6-4af7-bdcd-bd229f043f07-2020-11-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0888745c-f1e6-4af7-bdcd-bd229f043f07"	"2024-04-21"
"GENCC_000102-HGNC_8583-MONDO_0013227-HP_0000007-GENCC_100001"	"HGNC:8583"	"SERPINE1"	"MONDO:0013227"	"congenital plasminogen activator inhibitor type 1 deficiency"	"MONDO:0013227"	"congenital plasminogen activator inhibitor type 1 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8583"	"SERPINE1"	"MONDO:0013227"	"congenital plasminogen activator inhibitor type 1 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33baf899-f63b-42ed-b2fd-689cca44a7b6-2023-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"33baf899-f63b-42ed-b2fd-689cca44a7b6"	"2024-04-21"
"GENCC_000102-HGNC_9075-MONDO_0009883-HP_0000007-GENCC_100001"	"HGNC:9075"	"SERPINF2"	"MONDO:0009883"	"alpha-2-plasmin inhibitor deficiency"	"MONDO:0009883"	"alpha-2-plasmin inhibitor deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9075"	"SERPINF2"	"MONDO:0009883"	"alpha-2-plasmin inhibitor deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-09-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa2353-ff89-41f1-b030-bde64517edbb-2020-09-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a8fa2353-ff89-41f1-b030-bde64517edbb"	"2024-04-21"
"GENCC_000102-HGNC_1228-MONDO_0033946-HP_0000006-GENCC_100001"	"HGNC:1228"	"SERPING1"	"MONDO:0033946"	"hereditary angioedema with C1Inh deficiency"	"MONDO:0033946"	"hereditary angioedema with C1Inh deficiency"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1228"	"SERPING1"	"MONDO:0033946"	"hereditary angioedema with C1Inh deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb571a69-47a6-4e28-a837-b9df492526c9-2022-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb571a69-47a6-4e28-a837-b9df492526c9"	"2024-04-21"
"GENCC_000102-HGNC_8943-MONDO_0020074-HP_0000006-GENCC_100001"	"HGNC:8943"	"SERPINI1"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:8943"	"SERPINI1"	"MONDO:0020074"	"progressive myoclonus epilepsy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-05 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b31db78-6595-440d-a3f1-b3b5ca361611-2022-06-05T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1b31db78-6595-440d-a3f1-b3b5ca361611"	"2024-04-21"
"GENCC_000102-HGNC_10760-MONDO_0001071-HP_0000006-GENCC_100001"	"HGNC:10760"	"SET"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10760"	"SET"	"MONDO:0001071"	"intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-11-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d7c9aa2-0a9a-4359-af98-6097cc6a3b91-2021-11-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4d7c9aa2-0a9a-4359-af98-6097cc6a3b91"	"2024-04-21"
"GENCC_000102-HGNC_15573-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:15573"	"SETBP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15573"	"SETBP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70505ca8-8869-4fa9-9965-fc8e03a19b28-2020-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"70505ca8-8869-4fa9-9965-fc8e03a19b28"	"2024-04-21"
"GENCC_000102-HGNC_15573-MONDO_0010010-HP_0000006-GENCC_100001"	"HGNC:15573"	"SETBP1"	"MONDO:0010010"	"Schinzel-Giedion syndrome"	"MONDO:0010010"	"Schinzel-Giedion syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15573"	"SETBP1"	"MONDO:0010010"	"Schinzel-Giedion syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71885c03-b578-4baf-a17c-4817349eaf36-2021-02-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"71885c03-b578-4baf-a17c-4817349eaf36"	"2024-04-21"
"GENCC_000102-HGNC_18420-MONDO_0035706-HP_0000006-GENCC_100002"	"HGNC:18420"	"SETD2"	"MONDO:0035706"	"SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"	"MONDO:0035706"	"SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18420"	"SETD2"	"MONDO:0035706"	"SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12443e12-a359-40fb-afbf-b334e9b87b1d-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"12443e12-a359-40fb-afbf-b334e9b87b1d"	"2024-04-21"
"GENCC_000102-HGNC_18420-MONDO_0800477-HP_0000006-GENCC_100001"	"HGNC:18420"	"SETD2"	"MONDO:0800477"	"SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth"	"MONDO:0800477"	"SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18420"	"SETD2"	"MONDO:0800477"	"SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8d0235a-b48e-4609-8c61-09586a83d1f2-2023-10-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c8d0235a-b48e-4609-8c61-09586a83d1f2"	"2024-04-21"
"GENCC_000102-HGNC_25566-MONDO_0800439-HP_0000006-GENCC_100001"	"HGNC:25566"	"SETD5"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:25566"	"SETD5"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-27 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0964426-ce53-46d4-87bb-e1eba4ac25ed-2023-07-27T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d0964426-ce53-46d4-87bb-e1eba4ac25ed"	"2024-04-21"
"GENCC_000102-HGNC_445-MONDO_0018894-HP_0000006-GENCC_100001"	"HGNC:445"	"SETX"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:445"	"SETX"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f355b8f-1cd9-401c-8f34-b9b3e2fe939b-2022-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1f355b8f-1cd9-401c-8f34-b9b3e2fe939b"	"2024-04-21"
"GENCC_000102-HGNC_10771-MONDO_0800483-HP_0000006-GENCC_100001"	"HGNC:10771"	"SF3B4"	"MONDO:0800483"	"SF3B4-related acrofacial dysostosis"	"MONDO:0800483"	"SF3B4-related acrofacial dysostosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10771"	"SF3B4"	"MONDO:0800483"	"SF3B4-related acrofacial dysostosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-18 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1dd38d7-8eac-460d-bcc1-c884cd503455-2023-05-18T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f1dd38d7-8eac-460d-bcc1-c884cd503455"	"2024-04-21"
"GENCC_000102-HGNC_10799-MONDO_0800029-HP_0000006-GENCC_100001"	"HGNC:10799"	"SFTPA2"	"MONDO:0800029"	"interstitial lung disease 2"	"MONDO:0800029"	"interstitial lung disease 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10799"	"SFTPA2"	"MONDO:0800029"	"interstitial lung disease 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a990f191-a08c-4429-88b4-9a9b455f37f0-2023-06-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a990f191-a08c-4429-88b4-9a9b455f37f0"	"2024-04-21"
"GENCC_000102-HGNC_16088-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:16088"	"SFXN4"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16088"	"SFXN4"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02ff9212-9668-4899-bdc9-b726564aeefe-2023-11-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"02ff9212-9668-4899-bdc9-b726564aeefe"	"2024-04-21"
"GENCC_000102-HGNC_10805-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:10805"	"SGCA"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10805"	"SGCA"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-14 18:42:43"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e60e8b70-857e-4dae-bc45-da7db0dd5bf1-2020-04-14T184243.590Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e60e8b70-857e-4dae-bc45-da7db0dd5bf1"	"2024-04-21"
"GENCC_000102-HGNC_10806-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:10806"	"SGCB"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10806"	"SGCB"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c90753f2-8252-400f-b7b3-9d0b04e1e12c-2020-02-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c90753f2-8252-400f-b7b3-9d0b04e1e12c"	"2024-04-21"
"GENCC_000102-HGNC_10807-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:10807"	"SGCD"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10807"	"SGCD"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-14 18:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ad12a23-af71-4b3b-8a79-831b4d338c97-2020-04-14T183000.400Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1ad12a23-af71-4b3b-8a79-831b4d338c97"	"2024-04-21"
"GENCC_000102-HGNC_10807-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:10807"	"SGCD"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10807"	"SGCD"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59326e1b-5cc1-4dfe-8d67-3379aa305c40-2020-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"59326e1b-5cc1-4dfe-8d67-3379aa305c40"	"2024-04-21"
"GENCC_000102-HGNC_10809-MONDO_0015152-HP_0000007-GENCC_100001"	"HGNC:10809"	"SGCG"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10809"	"SGCG"	"MONDO:0015152"	"autosomal recessive limb-girdle muscular dystrophy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-14 18:51:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc0d70af-ecb5-4755-a840-9e8bb6f4e0a7-2020-04-14T185145.093Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dc0d70af-ecb5-4755-a840-9e8bb6f4e0a7"	"2024-04-21"
"GENCC_000102-HGNC_10818-MONDO_0009655-HP_0000007-GENCC_100001"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10818"	"SGSH"	"MONDO:0009655"	"mucopolysaccharidosis type 3A"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-15 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_438dab6d-abf4-44e8-a176-bb39ae128052-2022-06-15T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"438dab6d-abf4-44e8-a176-bb39ae128052"	"2024-04-21"
"GENCC_000102-HGNC_13867-MONDO_0010296-HP_0001417-GENCC_100004"	"HGNC:13867"	"SH3KBP1"	"MONDO:0010296"	"immunodeficiency 61"	"MONDO:0010296"	"immunodeficiency 61"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:13867"	"SH3KBP1"	"MONDO:0010296"	"immunodeficiency 61"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-11-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cc42cdd-5484-467b-9e35-7529716114dd-2021-11-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3cc42cdd-5484-467b-9e35-7529716114dd"	"2024-04-21"
"GENCC_000102-HGNC_29242-MONDO_0009579-HP_0000007-GENCC_100001"	"HGNC:29242"	"SH3PXD2B"	"MONDO:0009579"	"Frank-Ter Haar syndrome"	"MONDO:0009579"	"Frank-Ter Haar syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29242"	"SH3PXD2B"	"MONDO:0009579"	"Frank-Ter Haar syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-05-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08691232-1885-49df-a3fb-b0ed8ef88a56-2023-05-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"08691232-1885-49df-a3fb-b0ed8ef88a56"	"2024-04-21"
"GENCC_000102-HGNC_29427-MONDO_0015361-HP_0000007-GENCC_100001"	"HGNC:29427"	"SH3TC2"	"MONDO:0015361"	"autosomal recessive hereditary demyelinating motor and sensory neuropathy"	"MONDO:0015361"	"autosomal recessive hereditary demyelinating motor and sensory neuropathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29427"	"SH3TC2"	"MONDO:0015361"	"obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-10 02:07:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d2b214f-3086-4012-bf4b-a6e651618f0b-2022-02-10T020711.223Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d2b214f-3086-4012-bf4b-a6e651618f0b"	"2024-04-21"
"GENCC_000102-HGNC_14295-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:14295"	"SHANK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14295"	"SHANK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-07-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_911cb9ff-e68e-4b47-8639-f6a63ab11b3e-2019-07-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"911cb9ff-e68e-4b47-8639-f6a63ab11b3e"	"2024-04-21"
"GENCC_000102-HGNC_14294-MONDO_0011652-HP_0000006-GENCC_100001"	"HGNC:14294"	"SHANK3"	"MONDO:0011652"	"Phelan-McDermid syndrome"	"MONDO:0011652"	"Phelan-McDermid syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14294"	"SHANK3"	"MONDO:0011652"	"Phelan-McDermid syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e941703a-0f30-4f4c-a997-bc3b4295f289-2018-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e941703a-0f30-4f4c-a997-bc3b4295f289"	"2024-04-21"
"GENCC_000102-HGNC_10852-MONDO_0030866-HP_0000007-GENCC_100003"	"HGNC:10852"	"SHMT2"	"MONDO:0030866"	"neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"	"MONDO:0030866"	"neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10852"	"SHMT2"	"MONDO:0030866"	"neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-11 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf0af939-9015-47dd-bbcd-192114220334-2022-11-11T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cf0af939-9015-47dd-bbcd-192114220334"	"2024-04-21"
"GENCC_000102-HGNC_15454-MONDO_0011899-HP_0000006-GENCC_100001"	"HGNC:15454"	"SHOC2"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15454"	"SHOC2"	"MONDO:0011899"	"Noonan syndrome-like disorder with loose anagen hair"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ecc1335-fb21-4d65-8df2-19558e8f5c07-2018-07-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0ecc1335-fb21-4d65-8df2-19558e8f5c07"	"2024-04-21"
"GENCC_000102-HGNC_15454-MONDO_0018997-HP_0000006-GENCC_100005"	"HGNC:15454"	"SHOC2"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15454"	"SHOC2"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-05-31 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_185c93c8-e875-46a2-83af-a8575b19a228-2018-05-31T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"185c93c8-e875-46a2-83af-a8575b19a228"	"2024-04-21"
"GENCC_000102-HGNC_15454-MONDO_0009026-HP_0000006-GENCC_100005"	"HGNC:15454"	"SHOC2"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15454"	"SHOC2"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7035ea3-d556-4aa4-b525-5ed6c02866df-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a7035ea3-d556-4aa4-b525-5ed6c02866df"	"2024-04-21"
"GENCC_000102-HGNC_15454-MONDO_0015280-HP_0000006-GENCC_100005"	"HGNC:15454"	"SHOC2"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15454"	"SHOC2"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd8e5069-4023-4763-9b41-03350b03ee7f-2018-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fd8e5069-4023-4763-9b41-03350b03ee7f"	"2024-04-21"
"GENCC_000102-HGNC_29215-MONDO_0100148-HP_0001417-GENCC_100005"	"HGNC:29215"	"SHROOM4"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:29215"	"SHROOM4"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a94d20f8-9909-48b2-9860-d17c6dc73ec3-2021-01-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a94d20f8-9909-48b2-9860-d17c6dc73ec3"	"2024-04-21"
"GENCC_000102-HGNC_24624-MONDO_0009567-HP_0000007-GENCC_100001"	"HGNC:24624"	"SIL1"	"MONDO:0009567"	"Marinesco-Sjogren syndrome"	"MONDO:0009567"	"Marinesco-Sjogren syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24624"	"SIL1"	"MONDO:0009567"	"Marinesco-Sjogren syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3511d4dd-48bc-4d93-9b86-16bf46fabc5d-2023-12-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3511d4dd-48bc-4d93-9b86-16bf46fabc5d"	"2024-04-21"
"GENCC_000102-HGNC_19353-MONDO_0044699-HP_0000006-GENCC_100001"	"HGNC:19353"	"SIN3A"	"MONDO:0044699"	"SIN3A-related intellectual disability syndrome"	"MONDO:0044699"	"SIN3A-related intellectual disability syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:19353"	"SIN3A"	"MONDO:0044699"	"SIN3A-related intellectual disability syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-19 07:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c6bb2ed-0912-4d60-9faa-39be27ecf4c7-2022-01-19T070000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8c6bb2ed-0912-4d60-9faa-39be27ecf4c7"	"2024-04-21"
"GENCC_000102-HGNC_10887-MONDO_0007029-HP_0000006-GENCC_100001"	"HGNC:10887"	"SIX1"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10887"	"SIX1"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-06-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2587f3b-52e1-4765-a9ac-82d8cc5ae45b-2017-06-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e2587f3b-52e1-4765-a9ac-82d8cc5ae45b"	"2024-04-21"
"GENCC_000102-HGNC_10891-MONDO_0007029-HP_0000006-GENCC_100005"	"HGNC:10891"	"SIX5"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10891"	"SIX5"	"MONDO:0007029"	"branchio-oto-renal syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-01-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0667561f-aa48-4ad5-b4ff-45aac933b255-2018-01-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0667561f-aa48-4ad5-b4ff-45aac933b255"	"2024-04-21"
"GENCC_000102-HGNC_10896-MONDO_0008426-HP_0000006-GENCC_100001"	"HGNC:10896"	"SKI"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10896"	"SKI"	"MONDO:0008426"	"Shprintzen-Goldberg syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_019ffb7a-be5f-482d-9adf-e28d5aadaede-2020-10-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"019ffb7a-be5f-482d-9adf-e28d5aadaede"	"2024-04-21"
"GENCC_000102-HGNC_13818-MONDO_0100062-HP_0000007-GENCC_100004"	"HGNC:13818"	"SLC12A5"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:13818"	"SLC12A5"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_768a3318-a75d-412a-91e6-78d51609ac3e-2023-03-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"768a3318-a75d-412a-91e6-78d51609ac3e"	"2024-04-21"
"GENCC_000102-HGNC_10923-MONDO_0010354-HP_0001417-GENCC_100001"	"HGNC:10923"	"SLC16A2"	"MONDO:0010354"	"Allan-Herndon-Dudley syndrome"	"MONDO:0010354"	"Allan-Herndon-Dudley syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:10923"	"SLC16A2"	"MONDO:0010354"	"Allan-Herndon-Dudley syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-08-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9242e32-a339-4426-8ef5-39df0960d390-2018-08-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b9242e32-a339-4426-8ef5-39df0960d390"	"2024-04-21"
"GENCC_000102-HGNC_10933-MONDO_0019366-HP_0000007-GENCC_100001"	"HGNC:10933"	"SLC17A5"	"MONDO:0019366"	"free sialic acid storage disease"	"MONDO:0019366"	"free sialic acid storage disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10933"	"SLC17A5"	"MONDO:0019366"	"free sialic acid storage disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-30 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfa5a3e8-f0f5-4cd8-93b4-0f81ceab1f6a-2023-10-30T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cfa5a3e8-f0f5-4cd8-93b4-0f81ceab1f6a"	"2024-04-21"
"GENCC_000102-HGNC_20151-MONDO_0019497-HP_0000006-GENCC_100001"	"HGNC:20151"	"SLC17A8"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20151"	"SLC17A8"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c399400-090a-4b2e-93ff-0c4915ce81c7-2023-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8c399400-090a-4b2e-93ff-0c4915ce81c7"	"2024-04-21"
"GENCC_000102-HGNC_16266-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:16266"	"SLC19A3"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16266"	"SLC19A3"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-14 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3907183-4cb2-4df7-bace-ecc1821b3acc-2019-01-14T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e3907183-4cb2-4df7-bace-ecc1821b3acc"	"2024-04-21"
"GENCC_000102-HGNC_10939-MONDO_0009110-HP_0000007-GENCC_100004"	"HGNC:10939"	"SLC1A1"	"MONDO:0009110"	"dicarboxylic aminoaciduria"	"MONDO:0009110"	"dicarboxylic aminoaciduria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10939"	"SLC1A1"	"MONDO:0009110"	"dicarboxylic aminoaciduria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd6cc720-f37b-4abf-a887-8701ac805343-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fd6cc720-f37b-4abf-a887-8701ac805343"	"2024-04-21"
"GENCC_000102-HGNC_10940-MONDO_0014916-HP_0000006-GENCC_100001"	"HGNC:10940"	"SLC1A2"	"MONDO:0014916"	"developmental and epileptic encephalopathy, 41"	"MONDO:0014916"	"developmental and epileptic encephalopathy, 41"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10940"	"SLC1A2"	"MONDO:0014916"	"developmental and epileptic encephalopathy, 41"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebb83674-206f-461b-b98e-e12420208deb-2020-10-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ebb83674-206f-461b-b98e-e12420208deb"	"2024-04-21"
"GENCC_000102-HGNC_10941-MONDO_0012982-HP_0000006-GENCC_100001"	"HGNC:10941"	"SLC1A3"	"MONDO:0012982"	"episodic ataxia type 6"	"MONDO:0012982"	"episodic ataxia type 6"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10941"	"SLC1A3"	"MONDO:0012982"	"episodic ataxia type 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-10-09 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3bcae41b-3438-4e82-8f29-83cca7f142f0-2020-10-09T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3bcae41b-3438-4e82-8f29-83cca7f142f0"	"2024-04-21"
"GENCC_000102-HGNC_10942-MONDO_0014725-HP_0000007-GENCC_100001"	"HGNC:10942"	"SLC1A4"	"MONDO:0014725"	"spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"	"MONDO:0014725"	"spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10942"	"SLC1A4"	"MONDO:0014725"	"spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cff4bb6-caab-4696-a061-1f9a40c56c80-2021-05-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8cff4bb6-caab-4696-a061-1f9a40c56c80"	"2024-04-21"
"GENCC_000102-HGNC_10969-MONDO_0008919-HP_0000007-GENCC_100001"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10969"	"SLC22A5"	"MONDO:0008919"	"systemic primary carnitine deficiency disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-04-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2beee8a9-193c-41ca-92c4-484c8e034b02-2018-04-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2beee8a9-193c-41ca-92c4-484c8e034b02"	"2024-04-21"
"GENCC_000102-HGNC_10969-MONDO_0000453-HP_0000007-GENCC_100005"	"HGNC:10969"	"SLC22A5"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10969"	"SLC22A5"	"MONDO:0000453"	"short QT syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23b9707-bb3c-423d-b68e-54c57b991db6-2020-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b23b9707-bb3c-423d-b68e-54c57b991db6"	"2024-04-21"
"GENCC_000102-HGNC_10979-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:10979"	"SLC25A1"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10979"	"SLC25A1"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efd22051-13dc-49ed-b8cd-ded1d67f2bf1-2023-12-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"efd22051-13dc-49ed-b8cd-ded1d67f2bf1"	"2024-04-21"
"GENCC_000102-HGNC_10980-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:10980"	"SLC25A10"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10980"	"SLC25A10"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-11-20 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ef30bfb-3f90-48f7-ac02-c8286461dfc0-2023-11-20T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1ef30bfb-3f90-48f7-ac02-c8286461dfc0"	"2024-04-21"
"GENCC_000102-HGNC_10982-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:10982"	"SLC25A12"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10982"	"SLC25A12"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-21 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47bba424-b4e3-4216-aae0-2a4602bc2e92-2023-08-21T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"47bba424-b4e3-4216-aae0-2a4602bc2e92"	"2024-04-21"
"GENCC_000102-HGNC_10983-MONDO_0016602-HP_0000007-GENCC_100001"	"HGNC:10983"	"SLC25A13"	"MONDO:0016602"	"citrin deficiency"	"MONDO:0016602"	"citrin deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10983"	"SLC25A13"	"MONDO:0016602"	"citrin deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-23 22:07:42"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc373b9e-ec5e-4471-92a1-bbdd9aa3378c-2021-07-23T220742.579Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bc373b9e-ec5e-4471-92a1-bbdd9aa3378c"	"2024-04-21"
"GENCC_000102-HGNC_10985-MONDO_0009393-HP_0000007-GENCC_100001"	"HGNC:10985"	"SLC25A15"	"MONDO:0009393"	"ornithine translocase deficiency"	"MONDO:0009393"	"ornithine translocase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10985"	"SLC25A15"	"MONDO:0009393"	"ornithine translocase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-12-04 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5cb32c9-d506-484f-b023-1c4f17ef0d93-2019-12-04T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e5cb32c9-d506-484f-b023-1c4f17ef0d93"	"2024-04-21"
"GENCC_000102-HGNC_14409-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:14409"	"SLC25A19"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14409"	"SLC25A19"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-27 16:28:50"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ae17da7-86b0-4aba-a401-de1ccb6ecb83-2020-08-27T162850.918Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ae17da7-86b0-4aba-a401-de1ccb6ecb83"	"2024-04-21"
"GENCC_000102-HGNC_1421-MONDO_0008918-HP_0000007-GENCC_100001"	"HGNC:1421"	"SLC25A20"	"MONDO:0008918"	"carnitine-acylcarnitine translocase deficiency"	"MONDO:0008918"	"carnitine-acylcarnitine translocase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1421"	"SLC25A20"	"MONDO:0008918"	"carnitine-acylcarnitine translocase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95c9aece-49b5-496f-9547-f6d03dd69b4f-2018-05-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"95c9aece-49b5-496f-9547-f6d03dd69b4f"	"2024-04-21"
"GENCC_000102-HGNC_19954-MONDO_0100062-HP_0000007-GENCC_100001"	"HGNC:19954"	"SLC25A22"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19954"	"SLC25A22"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9a7ba06-6ddf-4a94-a0df-0b6c164f72b9-2020-05-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e9a7ba06-6ddf-4a94-a0df-0b6c164f72b9"	"2024-04-21"
"GENCC_000102-HGNC_20661-MONDO_0044970-HP_0000007-GENCC_100001"	"HGNC:20661"	"SLC25A26"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20661"	"SLC25A26"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-31 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e91c575-34b9-4142-8492-5fbbdb95066f-2023-07-31T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5e91c575-34b9-4142-8492-5fbbdb95066f"	"2024-04-21"
"GENCC_000102-HGNC_10989-MONDO_0044970-HP_0000007-GENCC_100003"	"HGNC:10989"	"SLC25A3"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10989"	"SLC25A3"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-24 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0fc01e9-4239-45e6-8680-9b8566283337-2023-07-24T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c0fc01e9-4239-45e6-8680-9b8566283337"	"2024-04-21"
"GENCC_000102-HGNC_10990-MONDO_0014175-HP_0000007-GENCC_100001"	"HGNC:10990"	"SLC25A4"	"MONDO:0014175"	"mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"	"MONDO:0014175"	"mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10990"	"SLC25A4"	"MONDO:0014175"	"mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-08-30 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10062"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10062"	"2024-04-21"
"GENCC_000102-HGNC_10990-MONDO_0009723-HP_0000006-GENCC_100004"	"HGNC:10990"	"SLC25A4"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10990"	"SLC25A4"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-14 15:17:38"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a6890a4-e2d5-4895-956d-3f3103ec6a2b-2021-06-14T151738.675Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0a6890a4-e2d5-4895-956d-3f3103ec6a2b"	"2024-04-21"
"GENCC_000102-HGNC_25198-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:25198"	"SLC25A46"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25198"	"SLC25A46"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-27 16:37:57"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e456b6d-7a9b-42d2-ab51-0531f5184b41-2020-08-27T163757.565Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6e456b6d-7a9b-42d2-ab51-0531f5184b41"	"2024-04-21"
"GENCC_000102-HGNC_25198-MONDO_0014671-HP_0000007-GENCC_100001"	"HGNC:25198"	"SLC25A46"	"MONDO:0014671"	"neuropathy, hereditary motor and sensory, type 6B"	"MONDO:0014671"	"neuropathy, hereditary motor and sensory, type 6B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25198"	"SLC25A46"	"MONDO:0014671"	"neuropathy, hereditary motor and sensory, type 6B"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9852fb40-0df1-4668-ba57-38a4971cb244-2020-05-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9852fb40-0df1-4668-ba57-38a4971cb244"	"2024-04-21"
"GENCC_000102-HGNC_10994-MONDO_0009107-HP_0000007-GENCC_100001"	"HGNC:10994"	"SLC26A2"	"MONDO:0009107"	"diastrophic dysplasia"	"MONDO:0009107"	"diastrophic dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10994"	"SLC26A2"	"MONDO:0009107"	"diastrophic dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_311c9799-169e-4409-98bd-74b6d414904c-2020-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"311c9799-169e-4409-98bd-74b6d414904c"	"2024-04-21"
"GENCC_000102-HGNC_10994-MONDO_0010966-HP_0000007-GENCC_100001"	"HGNC:10994"	"SLC26A2"	"MONDO:0010966"	"achondrogenesis type IB"	"MONDO:0010966"	"achondrogenesis type IB"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10994"	"SLC26A2"	"MONDO:0010966"	"achondrogenesis type IB"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_392a7ac1-7ef5-45c7-97e0-2c1c1bd7884d-2020-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"392a7ac1-7ef5-45c7-97e0-2c1c1bd7884d"	"2024-04-21"
"GENCC_000102-HGNC_10994-MONDO_0016648-HP_0000007-GENCC_100001"	"HGNC:10994"	"SLC26A2"	"MONDO:0016648"	"multiple epiphyseal dysplasia"	"MONDO:0016648"	"multiple epiphyseal dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10994"	"SLC26A2"	"MONDO:0016648"	"multiple epiphyseal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b53d2317-709a-4b12-b846-fa51bfddf7e1-2020-04-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b53d2317-709a-4b12-b846-fa51bfddf7e1"	"2024-04-21"
"GENCC_000102-HGNC_10994-MONDO_0009727-HP_0000007-GENCC_100001"	"HGNC:10994"	"SLC26A2"	"MONDO:0009727"	"atelosteogenesis type II"	"MONDO:0009727"	"atelosteogenesis type II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10994"	"SLC26A2"	"MONDO:0009727"	"atelosteogenesis type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-14 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da79a651-9fc7-453e-a1c1-145771baa2f9-2020-07-14T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"da79a651-9fc7-453e-a1c1-145771baa2f9"	"2024-04-21"
"GENCC_000102-HGNC_8818-MONDO_0010134-HP_0000007-GENCC_100001"	"HGNC:8818"	"SLC26A4"	"MONDO:0010134"	"Pendred syndrome"	"MONDO:0010134"	"Pendred syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:8818"	"SLC26A4"	"MONDO:0010134"	"Pendred syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-06-07 04:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49e794f4-8725-4499-a0a2-82591b42cab5-2017-06-07T040000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"49e794f4-8725-4499-a0a2-82591b42cab5"	"2024-04-21"
"GENCC_000102-HGNC_9359-MONDO_0019497-HP_0000007-GENCC_100004"	"HGNC:9359"	"SLC26A5"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:9359"	"SLC26A5"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-01-26 20:42:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f835f34-fe68-49a8-9399-bccebba540d4-2022-01-26T204254.928Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2f835f34-fe68-49a8-9399-bccebba540d4"	"2024-04-21"
"GENCC_000102-HGNC_11005-MONDO_0000188-HP_0000006-GENCC_100001"	"HGNC:11005"	"SLC2A1"	"MONDO:0000188"	"GLUT1 deficiency syndrome"	"MONDO:0000188"	"GLUT1 deficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11005"	"SLC2A1"	"MONDO:0000188"	"GLUT1 deficiency syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-18 12:34:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a20a0bc0-49d5-41fc-9507-cec19a43bd81-2019-04-18T123454.696Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a20a0bc0-49d5-41fc-9507-cec19a43bd81"	"2024-04-21"
"GENCC_000102-HGNC_13444-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:13444"	"SLC2A10"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13444"	"SLC2A10"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2016-04-17 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8270"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8270"	"2024-04-21"
"GENCC_000102-HGNC_11019-MONDO_0014851-HP_0000007-GENCC_100001"	"HGNC:11019"	"SLC34A1"	"MONDO:0014851"	"hypercalcemia, infantile, 2"	"MONDO:0014851"	"hypercalcemia, infantile, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11019"	"SLC34A1"	"MONDO:0014851"	"hypercalcemia, infantile, 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-10-19 13:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b164a17-9f7b-43b2-88b2-2adb8e458c08-2022-10-19T133000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1b164a17-9f7b-43b2-88b2-2adb8e458c08"	"2024-04-21"
"GENCC_000102-HGNC_11019-MONDO_0013247-HP_0000007-GENCC_100005"	"HGNC:11019"	"SLC34A1"	"MONDO:0013247"	"Fanconi renotubular syndrome 2"	"MONDO:0013247"	"Fanconi renotubular syndrome 2"	"GENCC:100005"	"Disputed Evidence"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11019"	"SLC34A1"	"MONDO:0013247"	"Fanconi renotubular syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-09-06 14:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8aec2b2-9433-4f9f-8015-5f3dd46369d0-2022-09-06T143000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c8aec2b2-9433-4f9f-8015-5f3dd46369d0"	"2024-04-21"
"GENCC_000102-HGNC_11022-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:11022"	"SLC35A2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11022"	"SLC35A2"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-23 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8173aea-692d-4f50-aca4-228e3df16e80-2021-04-23T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e8173aea-692d-4f50-aca4-228e3df16e80"	"2024-04-21"
"GENCC_000102-HGNC_32434-MONDO_0012216-HP_0000007-GENCC_100001"	"HGNC:32434"	"SLC38A8"	"MONDO:0012216"	"foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"	"MONDO:0012216"	"foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:32434"	"SLC38A8"	"MONDO:0012216"	"foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-02-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5eb4abb6-392a-4ded-9a3e-79aaea763377-2023-02-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5eb4abb6-392a-4ded-9a3e-79aaea763377"	"2024-04-21"
"GENCC_000102-HGNC_26907-MONDO_0002561-HP_0000005-GENCC_100008"	"HGNC:26907"	"SLC38A9"	"MONDO:0002561"	"lysosomal storage disease"	"MONDO:0002561"	"lysosomal storage disease"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"HGNC:26907"	"SLC38A9"	"MONDO:0002561"	"lysosomal storage disease"	"HP:0000005"	"Unknown"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2022-08-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34c72694-90be-4ba1-a876-4f77562e7e72-2022-08-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"34c72694-90be-4ba1-a876-4f77562e7e72"	"2024-04-21"
"GENCC_000102-HGNC_4927-MONDO_0015977-HP_0000007-GENCC_100003"	"HGNC:4927"	"SLC39A7"	"MONDO:0015977"	"agammaglobulinemia"	"MONDO:0015977"	"agammaglobulinemia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:4927"	"SLC39A7"	"MONDO:0015977"	"agammaglobulinemia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-09-21 13:06:38"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69ebdc60-2bdd-4020-9d20-7c0ea0fd3cdd-2021-09-21T130638.465Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"69ebdc60-2bdd-4020-9d20-7c0ea0fd3cdd"	"2024-04-21"
"GENCC_000102-HGNC_20862-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:20862"	"SLC39A8"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20862"	"SLC39A8"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-11-23 19:51:04"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fddaae4-d982-49e7-9e83-b84d15f3cf2c-2020-11-23T195104.867Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5fddaae4-d982-49e7-9e83-b84d15f3cf2c"	"2024-04-21"
"GENCC_000102-HGNC_11025-MONDO_0009067-HP_0000007-GENCC_100001"	"HGNC:11025"	"SLC3A1"	"MONDO:0009067"	"cystinuria"	"MONDO:0009067"	"cystinuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11025"	"SLC3A1"	"MONDO:0009067"	"cystinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:43:47"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbde8280-d4bc-47e8-8f3d-aed8bb05e22e-2020-06-29T174347.853Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fbde8280-d4bc-47e8-8f3d-aed8bb05e22e"	"2024-04-21"
"GENCC_000102-HGNC_19429-MONDO_0005240-HP_0000007-GENCC_100004"	"HGNC:19429"	"SLC41A1"	"MONDO:0005240"	"kidney disorder"	"MONDO:0005240"	"kidney disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:19429"	"SLC41A1"	"MONDO:0005240"	"kidney disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-05-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1a853a0-854a-4b61-8b12-eaf8edeabee7-2022-05-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a1a853a0-854a-4b61-8b12-eaf8edeabee7"	"2024-04-21"
"GENCC_000102-HGNC_13941-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:13941"	"SLC44A4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:13941"	"SLC44A4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-11-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ddbe083-55c3-483b-8c32-fc9bdbef10c6-2022-11-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ddbe083-55c3-483b-8c32-fc9bdbef10c6"	"2024-04-21"
"GENCC_000102-HGNC_11029-MONDO_0000453-HP_0000006-GENCC_100003"	"HGNC:11029"	"SLC4A3"	"MONDO:0000453"	"short QT syndrome"	"MONDO:0000453"	"short QT syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11029"	"SLC4A3"	"MONDO:0000453"	"short QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5f6fcca-f8a9-47c2-bae9-a72df92f3bd1-2020-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b5f6fcca-f8a9-47c2-bae9-a72df92f3bd1"	"2024-04-21"
"GENCC_000102-HGNC_30225-MONDO_0014013-HP_0000006-GENCC_100004"	"HGNC:30225"	"SLC52A1"	"MONDO:0014013"	"maternal riboflavin deficiency"	"MONDO:0014013"	"maternal riboflavin deficiency"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30225"	"SLC52A1"	"MONDO:0014013"	"maternal riboflavin deficiency"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-12-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f44e2049-ade2-464c-a4e5-eaf851252082-2020-12-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f44e2049-ade2-464c-a4e5-eaf851252082"	"2024-04-21"
"GENCC_000102-HGNC_30224-MONDO_0013867-HP_0000007-GENCC_100001"	"HGNC:30224"	"SLC52A2"	"MONDO:0013867"	"Brown-Vialetto-van Laere syndrome 2"	"MONDO:0013867"	"Brown-Vialetto-van Laere syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30224"	"SLC52A2"	"MONDO:0013867"	"brown-Vialetto-van Laere syndrome 2"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a500078-4cd5-49db-b22e-c5628ee07304-2023-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5a500078-4cd5-49db-b22e-c5628ee07304"	"2024-04-21"
"GENCC_000102-HGNC_16187-MONDO_0024537-HP_0000007-GENCC_100001"	"HGNC:16187"	"SLC52A3"	"MONDO:0024537"	"Brown-Vialetto-van Laere syndrome 1"	"MONDO:0024537"	"Brown-Vialetto-van Laere syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16187"	"SLC52A3"	"MONDO:0024537"	"Brown-Vialetto-van Laere syndrome 1"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0ae82e2-4c39-45b2-ba2d-6fe2570dbcfc-2023-09-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b0ae82e2-4c39-45b2-ba2d-6fe2570dbcfc"	"2024-04-21"
"GENCC_000102-HGNC_14025-MONDO_0008024-HP_0000006-GENCC_100003"	"HGNC:14025"	"SLC5A7"	"MONDO:0008024"	"neuronopathy, distal hereditary motor, type 7A"	"MONDO:0008024"	"neuronopathy, distal hereditary motor, type 7A"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:14025"	"SLC5A7"	"MONDO:0008024"	"neuronopathy, distal hereditary motor, type 7A"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2021-11-20 02:20:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6e46608-98f5-4e4d-9bcf-22e42997af6e-2021-11-20T022003.630Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c6e46608-98f5-4e4d-9bcf-22e42997af6e"	"2024-04-21"
"GENCC_000102-HGNC_27960-MONDO_0009324-HP_0000007-GENCC_100001"	"HGNC:27960"	"SLC6A19"	"MONDO:0009324"	"Hartnup disease"	"MONDO:0009324"	"Hartnup disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:27960"	"SLC6A19"	"MONDO:0009324"	"Hartnup disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-05-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44c34762-450b-4abd-8fe4-3f17ff700630-2020-05-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"44c34762-450b-4abd-8fe4-3f17ff700630"	"2024-04-21"
"GENCC_000102-HGNC_11049-MONDO_0700117-HP_0000007-GENCC_100001"	"HGNC:11049"	"SLC6A3"	"MONDO:0700117"	"SLC6A3-related dopamine transporter deficiency syndrome"	"MONDO:0700117"	"SLC6A3-related dopamine transporter deficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11049"	"SLC6A3"	"MONDO:0700117"	"SLC6A3-related dopamine transporter deficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-09 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb7a8001-1bc9-4cdf-bb99-1979737bda79-2023-01-09T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb7a8001-1bc9-4cdf-bb99-1979737bda79"	"2024-04-21"
"GENCC_000102-HGNC_11050-MONDO_0005258-HP_0000006-GENCC_100005"	"HGNC:11050"	"SLC6A4"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11050"	"SLC6A4"	"MONDO:0005258"	"autism spectrum disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2021-01-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc4b0612-0a53-4e36-b737-5c0f49a387a1-2021-01-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cc4b0612-0a53-4e36-b737-5c0f49a387a1"	"2024-04-21"
"GENCC_000102-HGNC_11052-MONDO_0007777-HP_0000007-GENCC_100004"	"HGNC:11052"	"SLC6A6"	"MONDO:0007777"	"hypotaurinemic retinal degeneration and cardiomyopathy"	"MONDO:0007777"	"hypotaurinemic retinal degeneration and cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11052"	"SLC6A6"	"MONDO:0007777"	"hypotaurinemic retinal degeneration and cardiomyopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26addf7f-70f5-432d-abb1-0c21e297b0fd-2023-03-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"26addf7f-70f5-432d-abb1-0c21e297b0fd"	"2024-04-21"
"GENCC_000102-HGNC_11055-MONDO_0010305-HP_0001417-GENCC_100001"	"HGNC:11055"	"SLC6A8"	"MONDO:0010305"	"creatine transporter deficiency"	"MONDO:0010305"	"creatine transporter deficiency"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11055"	"SLC6A8"	"MONDO:0010305"	"creatine transporter deficiency"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-02-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3795f0ae-7668-47b8-b69e-9c686b82bd0a-2020-02-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3795f0ae-7668-47b8-b69e-9c686b82bd0a"	"2024-04-21"
"GENCC_000102-HGNC_11065-MONDO_0009109-HP_0000007-GENCC_100001"	"HGNC:11065"	"SLC7A7"	"MONDO:0009109"	"lysinuric protein intolerance"	"MONDO:0009109"	"lysinuric protein intolerance"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11065"	"SLC7A7"	"MONDO:0009109"	"lysinuric protein intolerance"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-11-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_207778e3-aff9-427d-ae87-f68fd938af88-2019-11-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"207778e3-aff9-427d-ae87-f68fd938af88"	"2024-04-21"
"GENCC_000102-HGNC_11067-MONDO_0009067-HP_0000007-GENCC_100001"	"HGNC:11067"	"SLC7A9"	"MONDO:0009067"	"cystinuria"	"MONDO:0009067"	"cystinuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11067"	"SLC7A9"	"MONDO:0009067"	"cystinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:44:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8e706c5-4b10-4c8a-b5ab-dda8545f464a-2020-06-29T174426.491Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a8e706c5-4b10-4c8a-b5ab-dda8545f464a"	"2024-04-21"
"GENCC_000102-HGNC_11079-MONDO_0010278-HP_0001417-GENCC_100001"	"HGNC:11079"	"SLC9A6"	"MONDO:0010278"	"Christianson syndrome"	"MONDO:0010278"	"Christianson syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11079"	"SLC9A6"	"MONDO:0010278"	"Christianson syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d97fc8d-e744-449a-939c-386895c121cd-2018-05-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1d97fc8d-e744-449a-939c-386895c121cd"	"2024-04-21"
"GENCC_000102-HGNC_20653-MONDO_0005258-HP_0000006-GENCC_100005"	"HGNC:20653"	"SLC9A9"	"MONDO:0005258"	"autism spectrum disorder"	"MONDO:0005258"	"autism spectrum disorder"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20653"	"SLC9A9"	"MONDO:0005258"	"autism spectrum disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-10-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_463ee005-1264-45da-bd85-3776a6637c68-2020-10-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"463ee005-1264-45da-bd85-3776a6637c68"	"2024-04-21"
"GENCC_000102-HGNC_32689-MONDO_0014830-HP_0000006-GENCC_100003"	"HGNC:32689"	"SLFN14"	"MONDO:0014830"	"platelet-type bleeding disorder 20"	"MONDO:0014830"	"platelet-type bleeding disorder 20"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:32689"	"SLFN14"	"MONDO:0014830"	"platelet-type bleeding disorder 20"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-05-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f31ec838-fc84-47a2-9341-1fe494788a09-2022-05-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f31ec838-fc84-47a2-9341-1fe494788a09"	"2024-04-21"
"GENCC_000102-HGNC_23503-MONDO_0009082-HP_0000007-GENCC_100001"	"HGNC:23503"	"SLITRK6"	"MONDO:0009082"	"high myopia-sensorineural deafness syndrome"	"MONDO:0009082"	"high myopia-sensorineural deafness syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23503"	"SLITRK6"	"MONDO:0009082"	"high myopia-sensorineural deafness syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-21 21:15:22"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9b9e41c-1b12-4159-9729-8de648e747b0-2020-04-21T211522.429Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e9b9e41c-1b12-4159-9729-8de648e747b0"	"2024-04-21"
"GENCC_000102-HGNC_16643-MONDO_0015263-HP_0000006-GENCC_100005"	"HGNC:16643"	"SLMAP"	"MONDO:0015263"	"Brugada syndrome"	"MONDO:0015263"	"Brugada syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16643"	"SLMAP"	"MONDO:0015263"	"Brugada syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2017-11-21 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10163"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10163"	"2024-04-21"
"GENCC_000102-HGNC_23845-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:23845"	"SLX4"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23845"	"SLX4"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2017-03-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8705"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8705"	"2024-04-21"
"GENCC_000102-HGNC_23845-MONDO_0016419-HP_0000006-GENCC_100006"	"HGNC:23845"	"SLX4"	"MONDO:0016419"	"hereditary breast carcinoma"	"MONDO:0016419"	"hereditary breast carcinoma"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23845"	"SLX4"	"MONDO:0016419"	"hereditary breast carcinoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-21 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4acc26ec-2174-4b21-bb02-965ae3539062-2023-12-21T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4acc26ec-2174-4b21-bb02-965ae3539062"	"2024-04-21"
"GENCC_000102-HGNC_6767-MONDO_0015924-HP_0000006-GENCC_100005"	"HGNC:6767"	"SMAD1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6767"	"SMAD1"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_804f2eeb-7328-45c2-947b-cb9c4da0fecc-2022-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"804f2eeb-7328-45c2-947b-cb9c4da0fecc"	"2024-04-21"
"GENCC_000102-HGNC_6768-MONDO_0019625-HP_0000006-GENCC_100003"	"HGNC:6768"	"SMAD2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6768"	"SMAD2"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2017-04-10 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8265"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8265"	"2024-04-21"
"GENCC_000102-HGNC_6768-MONDO_0005453-HP_0000006-GENCC_100001"	"HGNC:6768"	"SMAD2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6768"	"SMAD2"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-06 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0055af-46d4-42c2-93fa-f3c4d238b3d4-2023-11-06T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5e0055af-46d4-42c2-93fa-f3c4d238b3d4"	"2024-04-21"
"GENCC_000102-HGNC_6769-MONDO_0013426-HP_0000006-GENCC_100001"	"HGNC:6769"	"SMAD3"	"MONDO:0013426"	"aneurysm-osteoarthritis syndrome"	"MONDO:0013426"	"aneurysm-osteoarthritis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6769"	"SMAD3"	"MONDO:0013426"	"aneurysm-osteoarthritis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-12-01 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3210"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3210"	"2024-04-21"
"GENCC_000102-HGNC_6769-MONDO_0019625-HP_0000006-GENCC_100001"	"HGNC:6769"	"SMAD3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6769"	"SMAD3"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2016-12-22 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8253"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8253"	"2024-04-21"
"GENCC_000102-HGNC_6770-MONDO_0015924-HP_0000006-GENCC_100005"	"HGNC:6770"	"SMAD4"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6770"	"SMAD4"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2022-11-21 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12d82f9f-8ab2-4012-a5d5-20de99f23c07-2022-11-21T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"12d82f9f-8ab2-4012-a5d5-20de99f23c07"	"2024-04-21"
"GENCC_000102-HGNC_6770-MONDO_0007688-HP_0000006-GENCC_100001"	"HGNC:6770"	"SMAD4"	"MONDO:0007688"	"Myhre syndrome"	"MONDO:0007688"	"Myhre syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6770"	"SMAD4"	"MONDO:0007688"	"Myhre syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-30 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5a082cc-c214-4bfa-8cb8-caead239d129-2021-12-30T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a5a082cc-c214-4bfa-8cb8-caead239d129"	"2024-04-21"
"GENCC_000102-HGNC_6770-MONDO_0008278-HP_0000006-GENCC_100001"	"HGNC:6770"	"SMAD4"	"MONDO:0008278"	"juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"MONDO:0008278"	"juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6770"	"SMAD4"	"MONDO:0008278"	"juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9b79d0f-4259-49d7-882d-4ca23bb7e8cf-2023-04-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b9b79d0f-4259-49d7-882d-4ca23bb7e8cf"	"2024-04-21"
"GENCC_000102-HGNC_6774-MONDO_0015924-HP_0000006-GENCC_100001"	"HGNC:6774"	"SMAD9"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:6774"	"SMAD9"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-05-14 19:29:54"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14f5a0c2-f82c-4571-a161-fb7ce61ae6d4-2021-05-14T192954.557Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14f5a0c2-f82c-4571-a161-fb7ce61ae6d4"	"2024-04-21"
"GENCC_000102-HGNC_11097-MONDO_0100284-HP_0001417-GENCC_100004"	"HGNC:11097"	"SMARCA1"	"MONDO:0100284"	"X-linked intellectual disability"	"MONDO:0100284"	"X-linked intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11097"	"SMARCA1"	"MONDO:0100284"	"X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-08-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce97120a-5094-4768-b305-941353791584-2022-08-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ce97120a-5094-4768-b305-941353791584"	"2024-04-21"
"GENCC_000102-HGNC_11098-MONDO_0011053-HP_0000006-GENCC_100001"	"HGNC:11098"	"SMARCA2"	"MONDO:0011053"	"intellectual disability-sparse hair-brachydactyly syndrome"	"MONDO:0011053"	"intellectual disability-sparse hair-brachydactyly syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11098"	"SMARCA2"	"MONDO:0011053"	"intellectual disability-sparse hair-brachydactyly syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cde86bc-f99f-40cf-8c32-eac9f8f8a67d-2020-08-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5cde86bc-f99f-40cf-8c32-eac9f8f8a67d"	"2024-04-21"
"GENCC_000102-HGNC_11100-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:11100"	"SMARCA4"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11100"	"SMARCA4"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-05-08 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9866"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9866"	"2024-04-21"
"GENCC_000102-HGNC_11100-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:11100"	"SMARCA4"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11100"	"SMARCA4"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-17 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61d29c73-9a30-4664-9df2-2f5831219221-2020-06-17T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"61d29c73-9a30-4664-9df2-2f5831219221"	"2024-04-21"
"GENCC_000102-HGNC_11100-MONDO_0013224-HP_0000006-GENCC_100001"	"HGNC:11100"	"SMARCA4"	"MONDO:0013224"	"rhabdoid tumor predisposition syndrome 2"	"MONDO:0013224"	"rhabdoid tumor predisposition syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11100"	"SMARCA4"	"MONDO:0013224"	"rhabdoid tumor predisposition syndrome 2"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5edb191-f515-47a3-b1d8-cc723eaef665-2018-06-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e5edb191-f515-47a3-b1d8-cc723eaef665"	"2024-04-21"
"GENCC_000102-HGNC_11102-MONDO_0009458-HP_0000007-GENCC_100001"	"HGNC:11102"	"SMARCAL1"	"MONDO:0009458"	"Schimke immuno-osseous dysplasia"	"MONDO:0009458"	"Schimke immuno-osseous dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11102"	"SMARCAL1"	"MONDO:0009458"	"Schimke immuno-osseous dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-30 13:05:48"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58700233-acb6-4ea8-911b-b3f474906aaa-2021-07-30T130548.284Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"58700233-acb6-4ea8-911b-b3f474906aaa"	"2024-04-21"
"GENCC_000102-HGNC_11103-MONDO_0012252-HP_0000006-GENCC_100001"	"HGNC:11103"	"SMARCB1"	"MONDO:0012252"	"rhabdoid tumor predisposition syndrome 1"	"MONDO:0012252"	"rhabdoid tumor predisposition syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11103"	"SMARCB1"	"MONDO:0012252"	"rhabdoid tumor predisposition syndrome 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-12 20:59:53"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d7390e7-0bb1-4ba1-b97e-7f666b52c86b-2018-10-12T205953.762Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d7390e7-0bb1-4ba1-b97e-7f666b52c86b"	"2024-04-21"
"GENCC_000102-HGNC_11103-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:11103"	"SMARCB1"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11103"	"SMARCB1"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-15 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea554e80-81d2-4100-8d0e-b762ea38fe23-2023-08-15T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ea554e80-81d2-4100-8d0e-b762ea38fe23"	"2024-04-21"
"GENCC_000102-HGNC_11104-MONDO_0700123-HP_0000006-GENCC_100001"	"HGNC:11104"	"SMARCC1"	"MONDO:0700123"	"SMARCC1-associated developmental dysgenesis syndrome"	"MONDO:0700123"	"SMARCC1-associated developmental dysgenesis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11104"	"SMARCC1"	"MONDO:0700123"	"SMARCC1-associated developmental dysgenesis syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb13d681-db77-4219-93ce-a9eefbd2839c-2023-04-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bb13d681-db77-4219-93ce-a9eefbd2839c"	"2024-04-21"
"GENCC_000102-HGNC_11105-MONDO_0015452-HP_0000006-GENCC_100001"	"HGNC:11105"	"SMARCC2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"MONDO:0015452"	"Coffin-Siris syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11105"	"SMARCC2"	"MONDO:0015452"	"Coffin-Siris syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa645aa6-3a03-4ab7-9d09-b17be3184259-2022-02-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aa645aa6-3a03-4ab7-9d09-b17be3184259"	"2024-04-21"
"GENCC_000102-HGNC_11109-MONDO_0011789-HP_0000006-GENCC_100001"	"HGNC:11109"	"SMARCE1"	"MONDO:0011789"	"familial meningioma"	"MONDO:0011789"	"familial meningioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11109"	"SMARCE1"	"MONDO:0011789"	"familial meningioma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-30 21:16:30"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01e68b67-987e-48ec-a167-cb659cc245e9-2020-07-30T211630.144Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"01e68b67-987e-48ec-a167-cb659cc245e9"	"2024-04-21"
"GENCC_000102-HGNC_11111-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:11111"	"SMC1A"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11111"	"SMC1A"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-06-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c281f5fd-d868-4425-a7b4-8e39e3b2090e-2019-06-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c281f5fd-d868-4425-a7b4-8e39e3b2090e"	"2024-04-21"
"GENCC_000102-HGNC_2468-MONDO_0016033-HP_0000006-GENCC_100001"	"HGNC:2468"	"SMC3"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:2468"	"SMC3"	"MONDO:0016033"	"Cornelia de Lange syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9467eaad-a86a-4b24-8cd4-98ebb57121c1-2020-04-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9467eaad-a86a-4b24-8cd4-98ebb57121c1"	"2024-04-21"
"GENCC_000102-HGNC_29090-MONDO_0011323-HP_0000006-GENCC_100001"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29090"	"SMCHD1"	"MONDO:0011323"	"arhinia, choanal atresia, and microphthalmia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-20 04:21:39"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2f2b442-3afa-4427-8e9b-3dc2485790aa-2022-05-20T042139.263Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b2f2b442-3afa-4427-8e9b-3dc2485790aa"	"2024-04-21"
"GENCC_000102-HGNC_25551-MONDO_0859136-HP_0000007-GENCC_100001"	"HGNC:25551"	"SMG8"	"MONDO:0859136"	"Alzahrani-Kuwahara syndrome"	"MONDO:0859136"	"Alzahrani-Kuwahara syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25551"	"SMG8"	"MONDO:0859136"	"Alzahrani-Kuwahara syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d23a6b27-7d29-4547-81bc-11305470dab0-2023-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d23a6b27-7d29-4547-81bc-11305470dab0"	"2024-04-21"
"GENCC_000102-HGNC_11119-MONDO_0009436-HP_0000007-GENCC_100003"	"HGNC:11119"	"SMO"	"MONDO:0009436"	"congenital hypothalamic hamartoma syndrome"	"MONDO:0009436"	"congenital hypothalamic hamartoma syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11119"	"SMO"	"MONDO:0009436"	"congenital hypothalamic hamartoma syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33566da0-0f61-4dc5-b629-affb4e68e9c7-2023-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"33566da0-0f61-4dc5-b629-affb4e68e9c7"	"2024-04-21"
"GENCC_000102-HGNC_11120-MONDO_0100464-HP_0000007-GENCC_100001"	"HGNC:11120"	"SMPD1"	"MONDO:0100464"	"acid sphingomyelinase deficiency"	"MONDO:0100464"	"acid sphingomyelinase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11120"	"SMPD1"	"MONDO:0100464"	"acid sphingomyelinase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-07-08 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccda7e6a-1cd6-45e2-971f-528a13589e1c-2022-07-08T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ccda7e6a-1cd6-45e2-971f-528a13589e1c"	"2024-04-21"
"GENCC_000102-HGNC_11122-MONDO_0019497-HP_0001417-GENCC_100001"	"HGNC:11122"	"SMPX"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11122"	"SMPX"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-09-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29773bee-1f13-43f6-bda0-c5a646efccd7-2017-09-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"29773bee-1f13-43f6-bda0-c5a646efccd7"	"2024-04-21"
"GENCC_000102-HGNC_11123-MONDO_0010664-HP_0001417-GENCC_100001"	"HGNC:11123"	"SMS"	"MONDO:0010664"	"syndromic X-linked intellectual disability Snyder type"	"MONDO:0010664"	"syndromic X-linked intellectual disability Snyder type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11123"	"SMS"	"MONDO:0010664"	"syndromic X-linked intellectual disability Snyder type"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-05-16 19:55:43"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f1ca85b-ad57-4c64-9abf-9ae5d915703f-2018-05-16T195543.428Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8f1ca85b-ad57-4c64-9abf-9ae5d915703f"	"2024-04-21"
"GENCC_000102-HGNC_11094-MONDO_0018094-HP_0000007-GENCC_100004"	"HGNC:11094"	"SNAI2"	"MONDO:0018094"	"Waardenburg syndrome"	"MONDO:0018094"	"Waardenburg syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11094"	"SNAI2"	"MONDO:0018094"	"Waardenburg syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2017-12-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c01d8d8-40a4-4b11-ad9c-8283bb937c55-2017-12-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9c01d8d8-40a4-4b11-ad9c-8283bb937c55"	"2024-04-21"
"GENCC_000102-HGNC_11132-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:11132"	"SNAP25"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11132"	"SNAP25"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-03-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5696dbd2-dfe5-4c96-baec-c9d963959b28-2022-03-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5696dbd2-dfe5-4c96-baec-c9d963959b28"	"2024-04-21"
"GENCC_000102-HGNC_11138-MONDO_0005180-HP_0000006-GENCC_100001"	"HGNC:11138"	"SNCA"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11138"	"SNCA"	"MONDO:0005180"	"Parkinson disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-03 13:49:31"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d21593ae-ed10-4442-8167-24f96f917302-2022-05-03T134931.425Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d21593ae-ed10-4442-8167-24f96f917302"	"2024-04-21"
"GENCC_000102-HGNC_30859-MONDO_0800098-HP_0000006-GENCC_100001"	"HGNC:30859"	"SNRNP200"	"MONDO:0800098"	"SNRNP200-related dominant retinopathy"	"MONDO:0800098"	"SNRNP200-related dominant retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30859"	"SNRNP200"	"MONDO:0800098"	"SNRNP200-related dominant retinopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-05-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41acb15c-18a0-412b-a308-66a7f4e2837a-2022-05-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"41acb15c-18a0-412b-a308-66a7f4e2837a"	"2024-04-21"
"GENCC_000102-HGNC_11167-MONDO_0002442-HP_0000006-GENCC_100005"	"HGNC:11167"	"SNTA1"	"MONDO:0002442"	"long QT syndrome"	"MONDO:0002442"	"long QT syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11167"	"SNTA1"	"MONDO:0002442"	"long QT syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2020-04-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03c758a6-9290-4e14-9501-0ffb0fbfe8ce-2020-04-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"03c758a6-9290-4e14-9501-0ffb0fbfe8ce"	"2024-04-21"
"GENCC_000102-HGNC_29256-MONDO_0000508-HP_0000007-GENCC_100004"	"HGNC:29256"	"SOBP"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29256"	"SOBP"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-10-18 06:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3edc996d-92e2-4556-947e-5a298cf1341d-2022-10-18T063000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3edc996d-92e2-4556-947e-5a298cf1341d"	"2024-04-21"
"GENCC_000102-HGNC_11179-MONDO_0007103-HP_0000006-GENCC_100001"	"HGNC:11179"	"SOD1"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11179"	"SOD1"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-13 19:22:26"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97d17778-d21e-441f-b4b7-49eccaa8cbab-2021-07-13T192226.690Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"97d17778-d21e-441f-b4b7-49eccaa8cbab"	"2024-04-21"
"GENCC_000102-HGNC_11183-MONDO_0014936-HP_0000006-GENCC_100001"	"HGNC:11183"	"SON"	"MONDO:0014936"	"ZTTK syndrome"	"MONDO:0014936"	"ZTTK syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11183"	"SON"	"MONDO:0014936"	"ZTTK syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-24 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7e86b1d-154a-40b5-b454-fad392f87782-2023-09-24T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b7e86b1d-154a-40b5-b454-fad392f87782"	"2024-04-21"
"GENCC_000102-HGNC_11184-MONDO_0015626-HP_0000007-GENCC_100001"	"HGNC:11184"	"SORD"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11184"	"SORD"	"MONDO:0015626"	"Charcot-Marie-Tooth disease"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-13 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aac3d58a-b916-4b71-819f-ba4ef1de18d2-2023-04-13T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"aac3d58a-b916-4b71-819f-ba4ef1de18d2"	"2024-04-21"
"GENCC_000102-HGNC_11187-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:11187"	"SOS1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11187"	"SOS1"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9781b6bf-9b1e-4a10-a0a9-7e56562a6e3a-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9781b6bf-9b1e-4a10-a0a9-7e56562a6e3a"	"2024-04-21"
"GENCC_000102-HGNC_11187-MONDO_0009026-HP_0000006-GENCC_100005"	"HGNC:11187"	"SOS1"	"MONDO:0009026"	"Costello syndrome"	"MONDO:0009026"	"Costello syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11187"	"SOS1"	"MONDO:0009026"	"Costello syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-07-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf0ea291-849a-4bd9-a12a-cd9daad7e214-2018-07-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cf0ea291-849a-4bd9-a12a-cd9daad7e214"	"2024-04-21"
"GENCC_000102-HGNC_11187-MONDO_0015280-HP_0000006-GENCC_100005"	"HGNC:11187"	"SOS1"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11187"	"SOS1"	"MONDO:0015280"	"cardiofaciocutaneous syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2018-06-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee5b916f-82ef-4738-82c8-46ee2fad131b-2018-06-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ee5b916f-82ef-4738-82c8-46ee2fad131b"	"2024-04-21"
"GENCC_000102-HGNC_11188-MONDO_0018997-HP_0000006-GENCC_100001"	"HGNC:11188"	"SOS2"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11188"	"SOS2"	"MONDO:0018997"	"Noonan syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-08-27 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f20a1034-e29d-49bb-aed9-b4ba63dc5968-2020-08-27T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f20a1034-e29d-49bb-aed9-b4ba63dc5968"	"2024-04-21"
"GENCC_000102-HGNC_11190-MONDO_0013202-HP_0000006-GENCC_100001"	"HGNC:11190"	"SOX10"	"MONDO:0013202"	"Waardenburg syndrome type 4C"	"MONDO:0013202"	"Waardenburg syndrome type 4C"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11190"	"SOX10"	"MONDO:0013202"	"Waardenburg syndrome type 4C"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-06-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00a5b707-a265-4af0-a7e1-f15734ea42b9-2018-06-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"00a5b707-a265-4af0-a7e1-f15734ea42b9"	"2024-04-21"
"GENCC_000102-HGNC_18122-MONDO_0015924-HP_0000006-GENCC_100001"	"HGNC:18122"	"SOX17"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18122"	"SOX17"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-24 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d47cc1b-9fe0-4f2f-9415-1490d81a5ca3-2023-04-24T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8d47cc1b-9fe0-4f2f-9415-1490d81a5ca3"	"2024-04-21"
"GENCC_000102-HGNC_11199-MONDO_0800474-HP_0001417-GENCC_100003"	"HGNC:11199"	"SOX3"	"MONDO:0800474"	"SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder"	"MONDO:0800474"	"SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11199"	"SOX3"	"MONDO:0800474"	"SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-08-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_796f4ae7-c817-44d4-935b-babf74a0ce47-2023-08-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"796f4ae7-c817-44d4-935b-babf74a0ce47"	"2024-04-21"
"GENCC_000102-HGNC_11201-MONDO_0014778-HP_0000006-GENCC_100001"	"HGNC:11201"	"SOX5"	"MONDO:0014778"	"Lamb-Shaffer syndrome"	"MONDO:0014778"	"Lamb-Shaffer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11201"	"SOX5"	"MONDO:0014778"	"Lamb-Shaffer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-01-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_781f21f2-d01a-457c-913e-8687a7c2650d-2022-01-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"781f21f2-d01a-457c-913e-8687a7c2650d"	"2024-04-21"
"GENCC_000102-HGNC_11204-MONDO_0009869-HP_0000006-GENCC_100004"	"HGNC:11204"	"SOX9"	"MONDO:0009869"	"isolated Pierre-Robin syndrome"	"MONDO:0009869"	"isolated Pierre-Robin syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11204"	"SOX9"	"MONDO:0009869"	"isolated Pierre-Robin syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_951f7fcd-2b6a-46cd-be1d-7993ee5119c1-2020-09-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"951f7fcd-2b6a-46cd-be1d-7993ee5119c1"	"2024-04-21"
"GENCC_000102-HGNC_11204-MONDO_0007134-HP_0000006-GENCC_100004"	"HGNC:11204"	"SOX9"	"MONDO:0007134"	"Cooks syndrome"	"MONDO:0007134"	"Cooks syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11204"	"SOX9"	"MONDO:0007134"	"Cooks syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-09-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1fdeca1-a725-4ccb-a7f6-e77c2d6158aa-2020-09-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a1fdeca1-a725-4ccb-a7f6-e77c2d6158aa"	"2024-04-21"
"GENCC_000102-HGNC_11204-MONDO_0007251-HP_0000006-GENCC_100001"	"HGNC:11204"	"SOX9"	"MONDO:0007251"	"campomelic dysplasia"	"MONDO:0007251"	"campomelic dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11204"	"SOX9"	"MONDO:0007251"	"campomelic dysplasia"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-01 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca6e2118-28d5-4a6f-8333-ee30994d41cd-2020-06-01T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca6e2118-28d5-4a6f-8333-ee30994d41cd"	"2024-04-21"
"GENCC_000102-HGNC_5401-MONDO_0009338-HP_0000007-GENCC_100001"	"HGNC:5401"	"SP110"	"MONDO:0009338"	"hepatic veno-occlusive disease-immunodeficiency syndrome"	"MONDO:0009338"	"hepatic veno-occlusive disease-immunodeficiency syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:5401"	"SP110"	"MONDO:0009338"	"hepatic veno-occlusive disease-immunodeficiency syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee8bf8d3-46b2-4b29-b729-734c952ada99-2023-10-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ee8bf8d3-46b2-4b29-b729-734c952ada99"	"2024-04-21"
"GENCC_000102-HGNC_11212-MONDO_0014216-HP_0000007-GENCC_100001"	"HGNC:11212"	"SPAG1"	"MONDO:0014216"	"primary ciliary dyskinesia 28"	"MONDO:0014216"	"primary ciliary dyskinesia 28"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11212"	"SPAG1"	"MONDO:0014216"	"primary ciliary dyskinesia 28"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-22 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0d43e40-0aa3-41cf-9e3a-8311e685c7be-2022-06-22T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"c0d43e40-0aa3-41cf-9e3a-8311e685c7be"	"2024-04-21"
"GENCC_000102-HGNC_18514-MONDO_0010156-HP_0000007-GENCC_100001"	"HGNC:18514"	"SPART"	"MONDO:0010156"	"Troyer syndrome"	"MONDO:0010156"	"Troyer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18514"	"SPART"	"MONDO:0010156"	"Troyer syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-12-19 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f0c5bcd-68a3-46f2-b632-82feb28381d4-2022-12-19T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5f0c5bcd-68a3-46f2-b632-82feb28381d4"	"2024-04-21"
"GENCC_000102-HGNC_23222-MONDO_0001868-HP_0000006-GENCC_100004"	"HGNC:23222"	"SPATA13"	"MONDO:0001868"	"primary angle-closure glaucoma"	"MONDO:0001868"	"primary angle-closure glaucoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:23222"	"SPATA13"	"MONDO:0001868"	"primary angle-closure glaucoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-16 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ef1d5a1-5a5b-425b-998d-0c6e23d3bd40-2023-03-16T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5ef1d5a1-5a5b-425b-998d-0c6e23d3bd40"	"2024-04-21"
"GENCC_000102-HGNC_16901-MONDO_0014418-HP_0000007-GENCC_100001"	"HGNC:16901"	"SPEG"	"MONDO:0014418"	"myopathy, centronuclear, 5"	"MONDO:0014418"	"myopathy, centronuclear, 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16901"	"SPEG"	"MONDO:0014418"	"myopathy, centronuclear, 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-01-12 21:34:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a8f91f1-da1e-489d-84e1-46aa543b3df9-2020-01-12T213416.305Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3a8f91f1-da1e-489d-84e1-46aa543b3df9"	"2024-04-21"
"GENCC_000102-HGNC_17575-MONDO_0859143-HP_0000006-GENCC_100001"	"HGNC:17575"	"SPEN"	"MONDO:0859143"	"Radio-Tartaglia syndrome"	"MONDO:0859143"	"Radio-Tartaglia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:17575"	"SPEN"	"MONDO:0859143"	"Radio-Tartaglia syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-11-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4800898-ad53-4fec-8b29-dd0a8225919b-2023-11-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f4800898-ad53-4fec-8b29-dd0a8225919b"	"2024-04-21"
"GENCC_000102-HGNC_11226-MONDO_0011445-HP_0000007-GENCC_100001"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11226"	"SPG11"	"MONDO:0011445"	"hereditary spastic paraplegia 11"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d32f521e-3d88-4b35-94e6-5fc4124c159c-2023-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d32f521e-3d88-4b35-94e6-5fc4124c159c"	"2024-04-21"
"GENCC_000102-HGNC_11241-MONDO_0030529-HP_0000006-GENCC_100002"	"HGNC:11241"	"SPI1"	"MONDO:0030529"	"agammaglobulinemia 10, autosomal dominant"	"MONDO:0030529"	"agammaglobulinemia 10, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11241"	"SPI1"	"MONDO:0030529"	"agammaglobulinemia 10, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2022-08-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76a93861-b7d3-4d08-8882-6a7a1456b51a-2022-08-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"76a93861-b7d3-4d08-8882-6a7a1456b51a"	"2024-04-21"
"GENCC_000102-HGNC_11257-MONDO_0012994-HP_0000007-GENCC_100001"	"HGNC:11257"	"SPR"	"MONDO:0012994"	"dopa-responsive dystonia due to sepiapterin reductase deficiency"	"MONDO:0012994"	"dopa-responsive dystonia due to sepiapterin reductase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11257"	"SPR"	"MONDO:0012994"	"dopa-responsive dystonia due to sepiapterin reductase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-06-04 22:18:15"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c9f2ff6-39f1-4abc-9fdf-de4c0e23120d-2021-06-04T221815.205Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1c9f2ff6-39f1-4abc-9fdf-de4c0e23120d"	"2024-04-21"
"GENCC_000102-HGNC_20249-MONDO_0012669-HP_0000006-GENCC_100001"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"MONDO:0012669"	"Legius syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:20249"	"SPRED1"	"MONDO:0012669"	"Legius syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-24 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ba44430-8f71-4b94-a6f1-7f66d3a27897-2019-01-24T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3ba44430-8f71-4b94-a6f1-7f66d3a27897"	"2024-04-21"
"GENCC_000102-HGNC_11273-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:11273"	"SPTAN1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11273"	"SPTAN1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-01-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6737ac52-8177-4be1-95fe-92ddecbf5636-2019-01-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6737ac52-8177-4be1-95fe-92ddecbf5636"	"2024-04-21"
"GENCC_000102-HGNC_11275-MONDO_0859178-HP_0000006-GENCC_100002"	"HGNC:11275"	"SPTBN1"	"MONDO:0859178"	"developmental delay, impaired speech, and behavioral abnormalities"	"MONDO:0859178"	"developmental delay, impaired speech, and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11275"	"SPTBN1"	"MONDO:0859178"	"developmental delay, impaired speech, and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2023-12-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96d77406-9cbb-471f-b16a-7f1fb2af2655-2023-12-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"96d77406-9cbb-471f-b16a-7f1fb2af2655"	"2024-04-21"
"GENCC_000102-HGNC_14896-MONDO_0060496-HP_0000007-GENCC_100001"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:14896"	"SPTBN4"	"MONDO:0060496"	"neurodevelopmental disorder with hypotonia, neuropathy, and deafness"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8934be-15d6-474e-b5fa-30328f633170-2022-06-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff8934be-15d6-474e-b5fa-30328f633170"	"2024-04-21"
"GENCC_000102-HGNC_11278-MONDO_0013337-HP_0000006-GENCC_100001"	"HGNC:11278"	"SPTLC2"	"MONDO:0013337"	"neuropathy, hereditary sensory and autonomic, type 1C"	"MONDO:0013337"	"neuropathy, hereditary sensory and autonomic, type 1C"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11278"	"SPTLC2"	"MONDO:0013337"	"neuropathy, hereditary sensory and autonomic, type 1C"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-01-10 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2294e1cf-3aad-471e-a360-9f6f8c3b4d8f-2023-01-10T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2294e1cf-3aad-471e-a360-9f6f8c3b4d8f"	"2024-04-21"
"GENCC_000102-HGNC_20390-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:20390"	"SQOR"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20390"	"SQOR"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-01-21 00:51:24"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09ea3b0c-cc3a-44d1-a702-9f1674c33040-2021-01-21T005124.845Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"09ea3b0c-cc3a-44d1-a702-9f1674c33040"	"2024-04-21"
"GENCC_000102-HGNC_11280-MONDO_0014640-HP_0000006-GENCC_100003"	"HGNC:11280"	"SQSTM1"	"MONDO:0014640"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"MONDO:0014640"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11280"	"SQSTM1"	"MONDO:0014640"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 3"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-13 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dae3327f-6381-44cc-8baa-8fa1fc0d31d5-2022-12-13T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"dae3327f-6381-44cc-8baa-8fa1fc0d31d5"	"2024-04-21"
"GENCC_000102-HGNC_11283-MONDO_0014837-HP_0000006-GENCC_100003"	"HGNC:11283"	"SRC"	"MONDO:0014837"	"thrombocytopenia 6"	"MONDO:0014837"	"thrombocytopenia 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11283"	"SRC"	"MONDO:0014837"	"thrombocytopenia 6"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-06-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3420133d-7a37-4f76-a3e7-6b9a0bc3803e-2022-06-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3420133d-7a37-4f76-a3e7-6b9a0bc3803e"	"2024-04-21"
"GENCC_000102-HGNC_16974-MONDO_0007621-HP_0000006-GENCC_100001"	"HGNC:16974"	"SRCAP"	"MONDO:0007621"	"Floating-Harbor syndrome"	"MONDO:0007621"	"Floating-Harbor syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16974"	"SRCAP"	"MONDO:0007621"	"Floating-Harbor syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-08-01 06:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b414014-3a99-48f2-aac1-20903838af0f-2023-08-01T063000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"5b414014-3a99-48f2-aac1-20903838af0f"	"2024-04-21"
"GENCC_000102-HGNC_25812-MONDO_0012885-HP_0000007-GENCC_100001"	"HGNC:25812"	"SRD5A3"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:25812"	"SRD5A3"	"MONDO:0012885"	"SRD5A3-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-01-17 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8336b45-245d-4309-8451-e99acb568663-2024-01-17T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f8336b45-245d-4309-8451-e99acb568663"	"2024-04-21"
"GENCC_000102-HGNC_15592-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:15592"	"SS18L1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:15592"	"SS18L1"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-05-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e148a06-50fc-45f3-90ea-023dc8687577-2023-05-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6e148a06-50fc-45f3-90ea-023dc8687577"	"2024-04-21"
"GENCC_000102-HGNC_11317-MONDO_0008135-HP_0000006-GENCC_100002"	"HGNC:11317"	"SSBP1"	"MONDO:0008135"	"optic atrophy 13 with retinal and foveal abnormalities"	"MONDO:0008135"	"optic atrophy 13 with retinal and foveal abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11317"	"SSBP1"	"MONDO:0008135"	"optic atrophy 13 with retinal and foveal abnormalities"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2021-05-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51701b05-3956-4d7b-adc7-7ba4192e8283-2021-05-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"51701b05-3956-4d7b-adc7-7ba4192e8283"	"2024-04-21"
"GENCC_000102-HGNC_11317-MONDO_0009723-HP_0000006-GENCC_100004"	"HGNC:11317"	"SSBP1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11317"	"SSBP1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-14 14:48:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ef6f4e7-6e59-4eaf-b303-7f975542d1b9-2021-06-14T144803.625Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6ef6f4e7-6e59-4eaf-b303-7f975542d1b9"	"2024-04-21"
"GENCC_000102-HGNC_10866-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:10866"	"ST3GAL3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10866"	"ST3GAL3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-06-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e151129d-46fc-4f7e-a434-e423a3fb644b-2020-06-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e151129d-46fc-4f7e-a434-e423a3fb644b"	"2024-04-21"
"GENCC_000102-HGNC_10872-MONDO_0018274-HP_0000007-GENCC_100001"	"HGNC:10872"	"ST3GAL5"	"MONDO:0018274"	"GM3 synthase deficiency"	"MONDO:0018274"	"GM3 synthase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10872"	"ST3GAL5"	"MONDO:0018274"	"GM3 synthase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-04-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5ea65e3-6a02-4435-9ef5-100564d3497c-2022-04-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e5ea65e3-6a02-4435-9ef5-100564d3497c"	"2024-04-21"
"GENCC_000102-HGNC_28423-MONDO_0009722-HP_0000007-GENCC_100001"	"HGNC:28423"	"STAC3"	"MONDO:0009722"	"Bailey-Bloch congenital myopathy"	"MONDO:0009722"	"Bailey-Bloch congenital myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:28423"	"STAC3"	"MONDO:0009722"	"Bailey-Bloch congenital myopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-04-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940572b9-6a5a-4de1-8ee1-6394f589515f-2020-04-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"940572b9-6a5a-4de1-8ee1-6394f589515f"	"2024-04-21"
"GENCC_000102-HGNC_11354-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:11354"	"STAG1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11354"	"STAG1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-20 06:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30cc66e4-e3cf-428d-9f27-58e8427c94f1-2022-09-20T060000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"30cc66e4-e3cf-428d-9f27-58e8427c94f1"	"2024-04-21"
"GENCC_000102-HGNC_11364-MONDO_0014414-HP_0000006-GENCC_100001"	"HGNC:11364"	"STAT3"	"MONDO:0014414"	"STAT3-related early-onset multisystem autoimmune disease"	"MONDO:0014414"	"STAT3-related early-onset multisystem autoimmune disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11364"	"STAT3"	"MONDO:0014414"	"STAT3-related early-onset multisystem autoimmune disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-16 18:17:12"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47daba8d-d94b-4efc-ac42-28d9dd81e891-2022-02-16T181712.967Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"47daba8d-d94b-4efc-ac42-28d9dd81e891"	"2024-04-21"
"GENCC_000102-HGNC_11364-MONDO_0007818-HP_0000006-GENCC_100001"	"HGNC:11364"	"STAT3"	"MONDO:0007818"	"hyper-IgE recurrent infection syndrome 1, autosomal dominant"	"MONDO:0007818"	"hyper-IgE recurrent infection syndrome 1, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11364"	"STAT3"	"MONDO:0007818"	"hyper-IgE recurrent infection syndrome 1, autosomal dominant"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-12-24 16:05:48"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beb3aa5b-240e-45d7-969a-9de3e5564457-2021-12-24T160548.234Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"beb3aa5b-240e-45d7-969a-9de3e5564457"	"2024-04-21"
"GENCC_000102-HGNC_10879-MONDO_0016660-HP_0000007-GENCC_100001"	"HGNC:10879"	"STIL"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:10879"	"STIL"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-03-28 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19d81e58-cb01-4cf3-8817-dfa0429150c3-2023-03-28T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"19d81e58-cb01-4cf3-8817-dfa0429150c3"	"2024-04-21"
"GENCC_000102-HGNC_11386-MONDO_0008051-HP_0000006-GENCC_100001"	"HGNC:11386"	"STIM1"	"MONDO:0008051"	"tubular aggregate myopathy"	"MONDO:0008051"	"tubular aggregate myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11386"	"STIM1"	"MONDO:0008051"	"tubular aggregate myopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-04-01 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9419adda-b3fb-4c2d-8562-6a0318260bbd-2021-04-01T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9419adda-b3fb-4c2d-8562-6a0318260bbd"	"2024-04-21"
"GENCC_000102-HGNC_11389-MONDO_0016248-HP_0000006-GENCC_100008"	"HGNC:11389"	"STK11"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11389"	"STK11"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100008"	"No Known Disease Relationship"	"2016-10-26 00:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8708"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8708"	"2024-04-21"
"GENCC_000102-HGNC_11389-MONDO_0008280-HP_0000006-GENCC_100001"	"HGNC:11389"	"STK11"	"MONDO:0008280"	"Peutz-Jeghers syndrome"	"MONDO:0008280"	"Peutz-Jeghers syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11389"	"STK11"	"MONDO:0008280"	"Peutz-Jeghers syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-20 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89685102-ac40-4932-96e7-c2e9e9280858-2023-12-20T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"89685102-ac40-4932-96e7-c2e9e9280858"	"2024-04-21"
"GENCC_000102-HGNC_11408-MONDO_0013934-HP_0000007-GENCC_100001"	"HGNC:11408"	"STK4"	"MONDO:0013934"	"combined immunodeficiency due to STK4 deficiency"	"MONDO:0013934"	"combined immunodeficiency due to STK4 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11408"	"STK4"	"MONDO:0013934"	"combined immunodeficiency due to STK4 deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-06-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0febeeb3-1a55-41c2-905c-c1d0619aa45b-2022-06-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0febeeb3-1a55-41c2-905c-c1d0619aa45b"	"2024-04-21"
"GENCC_000102-HGNC_16035-MONDO_0019497-HP_0000007-GENCC_100001"	"HGNC:16035"	"STRC"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16035"	"STRC"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-12-19 05:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_977b98b7-00f4-4200-9b17-f37303889ab4-2017-12-19T050000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"977b98b7-00f4-4200-9b17-f37303889ab4"	"2024-04-21"
"GENCC_000102-HGNC_11429-MONDO_0011336-HP_0000007-GENCC_100001"	"HGNC:11429"	"STX11"	"MONDO:0011336"	"familial hemophagocytic lymphohistiocytosis 4"	"MONDO:0011336"	"familial hemophagocytic lymphohistiocytosis 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11429"	"STX11"	"MONDO:0011336"	"familial hemophagocytic lymphohistiocytosis 4"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9844bf07-9887-4a28-b644-467b664fcb80-2023-09-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"9844bf07-9887-4a28-b644-467b664fcb80"	"2024-04-21"
"GENCC_000102-HGNC_18539-MONDO_0018214-HP_0000006-GENCC_100001"	"HGNC:18539"	"STX1B"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:18539"	"STX1B"	"MONDO:0018214"	"generalized epilepsy with febrile seizures plus"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-06-20 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b9a9e0e-b3d5-4340-8853-0ae6e7c390fd-2023-06-20T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"3b9a9e0e-b3d5-4340-8853-0ae6e7c390fd"	"2024-04-21"
"GENCC_000102-HGNC_11444-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:11444"	"STXBP1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11444"	"STXBP1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2017-10-20 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8d21800-652f-431b-a5d8-4208d4e91d46-2017-10-20T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a8d21800-652f-431b-a5d8-4208d4e91d46"	"2024-04-21"
"GENCC_000102-HGNC_11445-MONDO_0013135-HP_0000007-GENCC_100001"	"HGNC:11445"	"STXBP2"	"MONDO:0013135"	"familial hemophagocytic lymphohistiocytosis 5"	"MONDO:0013135"	"familial hemophagocytic lymphohistiocytosis 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11445"	"STXBP2"	"MONDO:0013135"	"familial hemophagocytic lymphohistiocytosis 5"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-09-19 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b5c9256-89e0-4f97-a7ca-dd07bdd237f9-2023-09-19T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0b5c9256-89e0-4f97-a7ca-dd07bdd237f9"	"2024-04-21"
"GENCC_000102-HGNC_11448-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:11448"	"SUCLA2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11448"	"SUCLA2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-18 18:01:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eedc8c99-a02a-4a34-ba72-1b0fc975e63f-2019-04-18T180100.762Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"eedc8c99-a02a-4a34-ba72-1b0fc975e63f"	"2024-04-21"
"GENCC_000102-HGNC_11449-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:11449"	"SUCLG1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11449"	"SUCLG1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-04-18 18:14:48"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd0a5a96-69b8-47fb-9b7b-17de29439ecc-2019-04-18T181448.882Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"fd0a5a96-69b8-47fb-9b7b-17de29439ecc"	"2024-04-21"
"GENCC_000102-HGNC_16466-MONDO_0007959-HP_0000006-GENCC_100001"	"HGNC:16466"	"SUFU"	"MONDO:0007959"	"medulloblastoma"	"MONDO:0007959"	"medulloblastoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:16466"	"SUFU"	"MONDO:0007959"	"medulloblastoma"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-10-11 18:42:15"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1408d8b1-015c-48b3-a28e-d99b5545fce8-2018-10-11T184215.077Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1408d8b1-015c-48b3-a28e-d99b5545fce8"	"2024-04-21"
"GENCC_000102-HGNC_16466-MONDO_0005308-HP_0000007-GENCC_100004"	"HGNC:16466"	"SUFU"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16466"	"SUFU"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2023-03-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59700c43-cff6-454e-895f-623c8cd68f8e-2023-03-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"59700c43-cff6-454e-895f-623c8cd68f8e"	"2024-04-21"
"GENCC_000102-HGNC_16001-MONDO_0009283-HP_0000007-GENCC_100003"	"HGNC:16001"	"SUGCT"	"MONDO:0009283"	"glutaric acidemia type 3"	"MONDO:0009283"	"glutaric acidemia type 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:16001"	"SUGCT"	"MONDO:0009283"	"glutaric acidemia type 3"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-12-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10622f19-d307-4fa8-b3ff-a799922e7fea-2022-12-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"10622f19-d307-4fa8-b3ff-a799922e7fea"	"2024-04-21"
"GENCC_000102-HGNC_20376-MONDO_0010088-HP_0000007-GENCC_100001"	"HGNC:20376"	"SUMF1"	"MONDO:0010088"	"mucosulfatidosis"	"MONDO:0010088"	"mucosulfatidosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:20376"	"SUMF1"	"MONDO:0010088"	"mucosulfatidosis"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-06 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d64d13d-c2dc-4749-8330-fade259ca381-2022-09-06T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2d64d13d-c2dc-4749-8330-fade259ca381"	"2024-04-21"
"GENCC_000102-HGNC_11460-MONDO_0010089-HP_0000007-GENCC_100001"	"HGNC:11460"	"SUOX"	"MONDO:0010089"	"isolated sulfite oxidase deficiency"	"MONDO:0010089"	"isolated sulfite oxidase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11460"	"SUOX"	"MONDO:0010089"	"isolated sulfite oxidase deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-03-22 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be1ff294-4444-4d39-a507-a2115bcdcd58-2019-03-22T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"be1ff294-4444-4d39-a507-a2115bcdcd58"	"2024-04-21"
"GENCC_000102-HGNC_11474-MONDO_0009723-HP_0000007-GENCC_100001"	"HGNC:11474"	"SURF1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11474"	"SURF1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-08 16:03:38"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2ed17d9b-e746-4f1f-9c39-26f46bb2eadc-2019-04-08T160338.698Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2ed17d9b-e746-4f1f-9c39-26f46bb2eadc"	"2024-04-21"
"GENCC_000102-HGNC_11494-MONDO_0100148-HP_0001417-GENCC_100001"	"HGNC:11494"	"SYN1"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11494"	"SYN1"	"MONDO:0100148"	"X-linked complex neurodevelopmental disorder"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-04-05 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca5a3e64-5daa-4a2f-876d-4e7648c53ff8-2023-04-05T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ca5a3e64-5daa-4a2f-876d-4e7648c53ff8"	"2024-04-21"
"GENCC_000102-HGNC_26703-MONDO_0019497-HP_0000007-GENCC_100003"	"HGNC:26703"	"SYNE4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26703"	"SYNE4"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-02-06 17:10:16"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ba8e80d-ccfe-4c9d-a2a9-6abaa9dfacc6-2020-02-06T171016.249Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7ba8e80d-ccfe-4c9d-a2a9-6abaa9dfacc6"	"2024-04-21"
"GENCC_000102-HGNC_11497-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:11497"	"SYNGAP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11497"	"SYNGAP1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2019-04-02 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b19f2a30-5538-4339-9018-150fd1bcd9c8-2019-04-02T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b19f2a30-5538-4339-9018-150fd1bcd9c8"	"2024-04-21"
"GENCC_000102-HGNC_11503-MONDO_0100062-HP_0000007-GENCC_100001"	"HGNC:11503"	"SYNJ1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11503"	"SYNJ1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-02-10 04:48:03"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a283140a-5d8d-47bb-9dff-32d091a16c7c-2022-02-10T044803.180Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a283140a-5d8d-47bb-9dff-32d091a16c7c"	"2024-04-21"
"GENCC_000102-HGNC_11506-MONDO_0019181-HP_0001417-GENCC_100003"	"HGNC:11506"	"SYP"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11506"	"SYP"	"MONDO:0019181"	"non-syndromic X-linked intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2020-12-16 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0d770a5-873c-4a55-98da-fa8d235ff93b-2020-12-16T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b0d770a5-873c-4a55-98da-fa8d235ff93b"	"2024-04-21"
"GENCC_000102-HGNC_11510-MONDO_0014468-HP_0000006-GENCC_100003"	"HGNC:11510"	"SYT2"	"MONDO:0014468"	"congenital myasthenic syndrome 7"	"MONDO:0014468"	"congenital myasthenic syndrome 7"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11510"	"SYT2"	"MONDO:0014468"	"congenital myasthenic syndrome 7"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-07-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8871e1-5eed-4414-8137-432d57f328d1-2023-07-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ff8871e1-5eed-4414-8137-432d57f328d1"	"2024-04-21"
"GENCC_000102-HGNC_29040-MONDO_0100062-HP_0000007-GENCC_100001"	"HGNC:29040"	"SZT2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29040"	"SZT2"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-02 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5c3ef40-481f-4e10-a99c-9d208ae9574b-2021-02-02T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b5c3ef40-481f-4e10-a99c-9d208ae9574b"	"2024-04-21"
"GENCC_000102-HGNC_24316-MONDO_0009723-HP_0000007-GENCC_100003"	"HGNC:24316"	"TACO1"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:24316"	"TACO1"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2019-10-16 15:04:33"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae2fd0e4-db4e-4e17-bfc8-c43719066f97-2019-10-16T150433.004Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ae2fd0e4-db4e-4e17-bfc8-c43719066f97"	"2024-04-21"
"GENCC_000102-HGNC_11547-MONDO_0004976-HP_0000006-GENCC_100004"	"HGNC:11547"	"TAF15"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11547"	"TAF15"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-11-03 02:09:45"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_605446ae-fd1f-4451-bd49-643c24cd652e-2021-11-03T020945.214Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"605446ae-fd1f-4451-bd49-643c24cd652e"	"2024-04-21"
"GENCC_000102-HGNC_11577-MONDO_0010543-HP_0001417-GENCC_100001"	"HGNC:11577"	"TAFAZZIN"	"MONDO:0010543"	"Barth syndrome"	"MONDO:0010543"	"Barth syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:11577"	"TAFAZZIN"	"MONDO:0010543"	"Barth syndrome"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-02-12 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1629e6ab-9749-4949-bf54-fe1addf4dcfd-2021-02-12T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1629e6ab-9749-4949-bf54-fe1addf4dcfd"	"2024-04-21"
"GENCC_000102-HGNC_30212-MONDO_0030051-HP_0000006-GENCC_100001"	"HGNC:30212"	"TANC2"	"MONDO:0030051"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"MONDO:0030051"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:30212"	"TANC2"	"MONDO:0030051"	"intellectual developmental disorder with autistic features and language delay, with or without seizures"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-09-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3d3d067-5a78-44b4-9c57-25cc784123bf-2022-09-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b3d3d067-5a78-44b4-9c57-25cc784123bf"	"2024-04-21"
"GENCC_000102-HGNC_29259-MONDO_0000508-HP_0000006-GENCC_100001"	"HGNC:29259"	"TAOK1"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29259"	"TAOK1"	"MONDO:0000508"	"syndromic intellectual disability"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-08-04 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79c712d0-ac0e-4bf0-8e68-bd598b3bca42-2021-08-04T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"79c712d0-ac0e-4bf0-8e68-bd598b3bca42"	"2024-04-21"
"GENCC_000102-HGNC_43-MONDO_0011476-HP_0000007-GENCC_100001"	"HGNC:43"	"TAP1"	"MONDO:0011476"	"MHC class I deficiency"	"MONDO:0011476"	"MHC class I deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:43"	"TAP1"	"MONDO:0011476"	"MHC class I deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-07-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4f7ee853-d9f3-424e-9108-43931602d6df-2023-07-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4f7ee853-d9f3-424e-9108-43931602d6df"	"2024-04-21"
"GENCC_000102-HGNC_44-MONDO_0011476-HP_0000007-GENCC_100002"	"HGNC:44"	"TAP2"	"MONDO:0011476"	"MHC class I deficiency"	"MONDO:0011476"	"MHC class I deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:44"	"TAP2"	"MONDO:0011476"	"MHC class I deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100002"	"Strong"	"2024-02-06 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d34f7639-eb52-4a29-90e0-27dbdaeec334-2024-02-06T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"d34f7639-eb52-4a29-90e0-27dbdaeec334"	"2024-04-21"
"GENCC_000102-HGNC_11566-MONDO_0011476-HP_0000007-GENCC_100003"	"HGNC:11566"	"TAPBP"	"MONDO:0011476"	"MHC class I deficiency"	"MONDO:0011476"	"MHC class I deficiency"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11566"	"TAPBP"	"MONDO:0011476"	"MHC class I deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2022-11-03 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a75f4ea4-61e9-4a22-a6e9-d67c8b7a02e4-2022-11-03T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a75f4ea4-61e9-4a22-a6e9-d67c8b7a02e4"	"2024-04-21"
"GENCC_000102-HGNC_11571-MONDO_0012790-HP_0000006-GENCC_100001"	"HGNC:11571"	"TARDBP"	"MONDO:0012790"	"amyotrophic lateral sclerosis type 10"	"MONDO:0012790"	"amyotrophic lateral sclerosis type 10"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11571"	"TARDBP"	"MONDO:0012790"	"amyotrophic lateral sclerosis type 10"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 16:06:23"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf8bf781-25c9-4f16-b8cc-b0533390e4e2-2021-07-27T160623.437Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"bf8bf781-25c9-4f16-b8cc-b0533390e4e2"	"2024-04-21"
"GENCC_000102-HGNC_30740-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:30740"	"TARS2"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:30740"	"TARS2"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2021-06-14 14:44:25"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_475a994f-8420-45bb-8f14-9fe85cdcdbbc-2021-06-14T144425.888Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"475a994f-8420-45bb-8f14-9fe85cdcdbbc"	"2024-04-21"
"GENCC_000102-HGNC_11573-MONDO_0010160-HP_0000007-GENCC_100001"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"tyrosinemia type II"	"MONDO:0010160"	"tyrosinemia type II"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11573"	"TAT"	"MONDO:0010160"	"tyrosinemia type II"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-06-29 17:42:08"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a28aa11-78af-4c3b-900e-79c6a1e9339a-2020-06-29T174208.705Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7a28aa11-78af-4c3b-900e-79c6a1e9339a"	"2024-04-21"
"GENCC_000102-HGNC_29203-MONDO_0009079-HP_0000007-GENCC_100001"	"HGNC:29203"	"TBC1D24"	"MONDO:0009079"	"DOORS syndrome"	"MONDO:0009079"	"DOORS syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:29203"	"TBC1D24"	"MONDO:0009079"	"DOORS syndrome"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-11 13:20:31"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fcb9839-6798-4195-8959-08d45bc63339-2020-03-11T132031.642Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"0fcb9839-6798-4195-8959-08d45bc63339"	"2024-04-21"
"GENCC_000102-HGNC_29203-MONDO_0019497-HP_0000006-GENCC_100004"	"HGNC:29203"	"TBC1D24"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29203"	"TBC1D24"	"MONDO:0019497"	"nonsyndromic genetic hearing loss"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2022-07-26 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd496a45-5ae0-4e56-8a3d-2c410a5bd0c8-2022-07-26T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"cd496a45-5ae0-4e56-8a3d-2c410a5bd0c8"	"2024-04-21"
"GENCC_000102-HGNC_24715-MONDO_0026726-HP_0001417-GENCC_100003"	"HGNC:24715"	"TBC1D8B"	"MONDO:0026726"	"nephrotic syndrome, type 20"	"MONDO:0026726"	"nephrotic syndrome, type 20"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:24715"	"TBC1D8B"	"MONDO:0026726"	"nephrotic syndrome, type 20"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-25 02:30:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6eac03e8-0b58-427e-b174-8ada5fad1f1c-2023-04-25T023000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"6eac03e8-0b58-427e-b174-8ada5fad1f1c"	"2024-04-21"
"GENCC_000102-HGNC_11584-MONDO_0014641-HP_0000006-GENCC_100001"	"HGNC:11584"	"TBK1"	"MONDO:0014641"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"MONDO:0014641"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11584"	"TBK1"	"MONDO:0014641"	"frontotemporal dementia and/or amyotrophic lateral sclerosis 4"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2022-11-03 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_509b9e29-d354-4974-96e9-e819c3fee579-2022-11-03T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"509b9e29-d354-4974-96e9-e819c3fee579"	"2024-04-21"
"GENCC_000102-HGNC_29529-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:29529"	"TBL1XR1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:29529"	"TBL1XR1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-07-07 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8352a921-43c0-4097-9147-2618a4165b57-2020-07-07T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"8352a921-43c0-4097-9147-2618a4165b57"	"2024-04-21"
"GENCC_000102-HGNC_11590-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:11590"	"TBR1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11590"	"TBR1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2020-03-25 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_853c90ef-34a8-4d7d-931d-5fb4add3e4d0-2020-03-25T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"853c90ef-34a8-4d7d-931d-5fb4add3e4d0"	"2024-04-21"
"GENCC_000102-HGNC_11598-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:11598"	"TBX20"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11598"	"TBX20"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58a014d9-2d97-4041-961d-cfd09fa11adf-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"58a014d9-2d97-4041-961d-cfd09fa11adf"	"2024-04-21"
"GENCC_000102-HGNC_11603-MONDO_0015924-HP_0000006-GENCC_100001"	"HGNC:11603"	"TBX4"	"MONDO:0015924"	"pulmonary arterial hypertension"	"MONDO:0015924"	"pulmonary arterial hypertension"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11603"	"TBX4"	"MONDO:0015924"	"pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-03-10 21:46:11"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b8cc228-67d2-4530-8129-ebafee7fafa1-2021-03-10T214611.990Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"1b8cc228-67d2-4530-8129-ebafee7fafa1"	"2024-04-21"
"GENCC_000102-HGNC_11604-MONDO_0007732-HP_0000006-GENCC_100001"	"HGNC:11604"	"TBX5"	"MONDO:0007732"	"Holt-Oram syndrome"	"MONDO:0007732"	"Holt-Oram syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11604"	"TBX5"	"MONDO:0007732"	"Holt-Oram syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2021-07-27 14:57:06"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24e6c85a-33cf-4248-be1f-6431c7c6b1e5-2021-07-27T145706.838Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"24e6c85a-33cf-4248-be1f-6431c7c6b1e5"	"2024-04-21"
"GENCC_000102-HGNC_11608-MONDO_0001197-HP_0000006-GENCC_100003"	"HGNC:11608"	"TBXA2R"	"MONDO:0001197"	"qualitative platelet defect"	"MONDO:0001197"	"qualitative platelet defect"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11608"	"TBXA2R"	"MONDO:0001197"	"qualitative platelet defect"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-04-05 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab65570e-c07b-402c-99c0-322df4a86ee4-2023-04-05T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab65570e-c07b-402c-99c0-322df4a86ee4"	"2024-04-21"
"GENCC_000102-HGNC_11609-MONDO_0009274-HP_0000007-GENCC_100003"	"HGNC:11609"	"TBXAS1"	"MONDO:0009274"	"ghosal hematodiaphyseal dysplasia"	"MONDO:0009274"	"ghosal hematodiaphyseal dysplasia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:11609"	"TBXAS1"	"MONDO:0009274"	"ghosal hematodiaphyseal dysplasia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2023-06-07 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_612c46e2-8b4f-4bff-9d8b-28769d8854e2-2023-06-07T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"612c46e2-8b4f-4bff-9d8b-28769d8854e2"	"2024-04-21"
"GENCC_000102-HGNC_11610-MONDO_0005021-HP_0000006-GENCC_100004"	"HGNC:11610"	"TCAP"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11610"	"TCAP"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2020-08-12 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c8ab9d8-919a-443f-b027-5aec92b273d1-2020-08-12T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"4c8ab9d8-919a-443f-b027-5aec92b273d1"	"2024-04-21"
"GENCC_000102-HGNC_17342-MONDO_0020119-HP_0001417-GENCC_100001"	"HGNC:17342"	"BRWD3"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"HGNC:17342"	"BRWD3"	"MONDO:0020119"	"X-linked syndromic intellectual disability"	"HP:0001417"	"X-linked"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2018-07-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8a924e2-e76b-4363-bf38-d95fd53d6141-2018-07-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"b8a924e2-e76b-4363-bf38-d95fd53d6141"	"2024-04-21"
"GENCC_000102-HGNC_23845-MONDO_0013499-HP_0000007-GENCC_100001"	"HGNC:23845"	"SLX4"	"MONDO:0013499"	"Fanconi anemia complementation group P"	"MONDO:0013499"	"Fanconi anemia complementation group P"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:23845"	"SLX4"	"MONDO:0013499"	"Fanconi anemia complementation group P"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-10-27 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab56e51d-64d2-49ba-a927-ab04e4a1e254-2023-10-27T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ab56e51d-64d2-49ba-a927-ab04e4a1e254"	"2024-04-21"
"GENCC_000102-HGNC_7230-MONDO_0016248-HP_0000006-GENCC_100006"	"HGNC:7230"	"MRE11"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7230"	"MRE11"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2023-12-15 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5b721c7-52ab-4475-a87e-cb0fa3be198f-2023-12-15T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"f5b721c7-52ab-4475-a87e-cb0fa3be198f"	"2024-04-21"
"GENCC_000102-HGNC_9588-MONDO_0017623-HP_0000006-GENCC_100001"	"HGNC:9588"	"PTEN"	"MONDO:0017623"	"PTEN hamartoma tumor syndrome"	"MONDO:0017623"	"PTEN hamartoma tumor syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9588"	"PTEN"	"MONDO:0017623"	"PTEN hamartoma tumor syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-04-05 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e9e89c0-8d1b-4276-bd6f-90c7b7190ffb-2024-04-05T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"2e9e89c0-8d1b-4276-bd6f-90c7b7190ffb"	"2024-04-21"
"GENCC_000102-HGNC_9816-MONDO_0016248-HP_0000006-GENCC_100006"	"HGNC:9816"	"RAD50"	"MONDO:0016248"	"familial ovarian cancer"	"MONDO:0016248"	"familial ovarian cancer"	"GENCC:100006"	"Refuted Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:9816"	"RAD50"	"MONDO:0016248"	"familial ovarian cancer"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100006"	"Refuted Evidence"	"2024-02-23 18:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef809b24-cdc2-4d5c-a1ab-5a9c2f35da54-2024-02-23T180000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"ef809b24-cdc2-4d5c-a1ab-5a9c2f35da54"	"2024-04-21"
"GENCC_000102-HGNC_10405-MONDO_0005835-HP_0000006-GENCC_100004"	"HGNC:10405"	"RPS20"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10405"	"RPS20"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_258ec9c5-12bb-4d8b-9bc2-d5747b52660c-2024-03-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"258ec9c5-12bb-4d8b-9bc2-d5747b52660c"	"2024-04-21"
"GENCC_000102-HGNC_10729-MONDO_0005835-HP_0000006-GENCC_100005"	"HGNC:10729"	"SEMA4A"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:10729"	"SEMA4A"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2024-03-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af6942d6-a886-4ef0-a979-bce7a971e111-2024-03-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"af6942d6-a886-4ef0-a979-bce7a971e111"	"2024-04-21"
"GENCC_000102-HGNC_1748-MONDO_0100488-HP_0000006-GENCC_100001"	"HGNC:1748"	"CDH1"	"MONDO:0100488"	"CDH1-related diffuse gastric and lobular breast cancer syndrome"	"MONDO:0100488"	"CDH1-related diffuse gastric and lobular breast cancer syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:1748"	"CDH1"	"MONDO:0100488"	"CDH1-related diffuse gastric and lobular breast cancer syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14223ff7-e6b0-4c60-bee6-df55301d2017-2024-03-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"14223ff7-e6b0-4c60-bee6-df55301d2017"	"2024-04-21"
"GENCC_000102-HGNC_7326-MONDO_0005835-HP_0000006-GENCC_100004"	"HGNC:7326"	"MSH3"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:7326"	"MSH3"	"MONDO:0005835"	"Lynch syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9216399-2779-43fa-8b95-b10020753f43-2024-03-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e9216399-2779-43fa-8b95-b10020753f43"	"2024-04-21"
"GENCC_000102-HGNC_11998-MONDO_0018875-HP_0000006-GENCC_100001"	"HGNC:11998"	"TP53"	"MONDO:0018875"	"Li-Fraumeni syndrome"	"MONDO:0018875"	"Li-Fraumeni syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:11998"	"TP53"	"MONDO:0018875"	"Li-Fraumeni syndrome"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-03-22 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78494aba-bb52-4b33-bf1d-ebbb5374df4b-2024-03-22T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"78494aba-bb52-4b33-bf1d-ebbb5374df4b"	"2024-04-21"
"GENCC_000102-HGNC_2728-MONDO_0013789-HP_0000007-GENCC_100003"	"HGNC:2728"	"DDOST"	"MONDO:0013789"	"DDOST-congenital disorder of glycosylation"	"MONDO:0013789"	"DDOST-congenital disorder of glycosylation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:2728"	"DDOST"	"MONDO:0013789"	"DDOST-congenital disorder of glycosylation"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-02-28 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0605b51-70c5-42ee-81b5-d45bb0b1fdab-2024-02-28T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"e0605b51-70c5-42ee-81b5-d45bb0b1fdab"	"2024-04-21"
"GENCC_000102-HGNC_103-MONDO_0020787-HP_0032113-GENCC_100001"	"HGNC:103"	"CNNM2"	"MONDO:0020787"	"hypomagnesemia, seizures, and intellectual disability 1"	"MONDO:0020787"	"hypomagnesemia, seizures, and intellectual disability 1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"HGNC:103"	"CNNM2"	"MONDO:0020787"	"hypomagnesemia, seizures, and intellectual disability 1"	"HP:0032113"	"Semidominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2024-02-15 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_522bb617-c817-4536-a87b-01d4302d7bf0-2024-02-15T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"522bb617-c817-4536-a87b-01d4302d7bf0"	"2024-04-21"
"GENCC_000102-HGNC_1382-MONDO_0000437-HP_0000007-GENCC_100003"	"HGNC:1382"	"CA8"	"MONDO:0000437"	"cerebellar ataxia"	"MONDO:0000437"	"cerebellar ataxia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:1382"	"CA8"	"MONDO:0000437"	"cerebellar ataxia"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-01-16 19:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0800c48-e3b1-4cb2-bbd1-4d649e506ebd-2024-01-16T190000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"a0800c48-e3b1-4cb2-bbd1-4d649e506ebd"	"2024-04-21"
"GENCC_000102-HGNC_26742-MONDO_0013549-HP_0000007-GENCC_100004"	"HGNC:26742"	"NAT8L"	"MONDO:0013549"	"N-acetylaspartate deficiency"	"MONDO:0013549"	"N-acetylaspartate deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:26742"	"NAT8L"	"MONDO:0013549"	"N-acetylaspartate deficiency"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-03-29 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_854ce0ef-7744-483d-87c7-b2dc436f9f0f-2024-03-29T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"854ce0ef-7744-483d-87c7-b2dc436f9f0f"	"2024-04-21"
"GENCC_000102-HGNC_18762-MONDO_0009448-HP_0000007-GENCC_100004"	"HGNC:18762"	"SLC36A2"	"MONDO:0009448"	"iminoglycinuria"	"MONDO:0009448"	"iminoglycinuria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:18762"	"SLC36A2"	"MONDO:0009448"	"iminoglycinuria"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-04-11 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38341e13-b026-4a61-a049-5f7ef9df1805-2024-04-11T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"38341e13-b026-4a61-a049-5f7ef9df1805"	"2024-04-21"
"GENCC_000102-HGNC_4852-MONDO_0005453-HP_0000006-GENCC_100005"	"HGNC:4852"	"HDAC1"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:4852"	"HDAC1"	"MONDO:0005453"	"congenital heart disease"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100005"	"Disputed Evidence"	"2024-01-08 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_736390a5-ec08-4a25-b6ce-0d70dae98811-2024-01-08T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"736390a5-ec08-4a25-b6ce-0d70dae98811"	"2024-04-21"
"GENCC_000102-HGNC_3006-MONDO_0014023-HP_0000007-GENCC_100003"	"HGNC:3006"	"DPM2"	"MONDO:0014023"	"congenital muscular dystrophy with intellectual disability and severe epilepsy"	"MONDO:0014023"	"congenital muscular dystrophy with intellectual disability and severe epilepsy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:3006"	"DPM2"	"MONDO:0014023"	"congenital muscular dystrophy with intellectual disability and severe epilepsy"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100003"	"Moderate"	"2024-03-20 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a5c5381-1dba-4c06-803b-4c40f9da85d6-2024-03-20T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"7a5c5381-1dba-4c06-803b-4c40f9da85d6"	"2024-04-21"
"GENCC_000102-HGNC_914-MONDO_0009434-HP_0000007-GENCC_100004"	"HGNC:914"	"B2M"	"MONDO:0009434"	"hypoproteinemia, hypercatabolic"	"MONDO:0009434"	"hypoproteinemia, hypercatabolic"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"HGNC:914"	"B2M"	"MONDO:0009434"	"hypoproteinemia, hypercatabolic"	"HP:0000007"	"Autosomal recessive"	"GENCC:000102"	"ClinGen"	"GENCC:100004"	"Limited"	"2024-04-18 16:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56366640-5981-436e-bfa1-8d1edf14ac3f-2024-04-18T160000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"56366640-5981-436e-bfa1-8d1edf14ac3f"	"2024-04-21"
"GENCC_000102-HGNC_12010-MONDO_0005045-HP_0000006-GENCC_100001"	"HGNC:12010"	"TPM1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"HGNC:12010"	"TPM1"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000006"	"Autosomal dominant"	"GENCC:000102"	"ClinGen"	"GENCC:100001"	"Definitive"	"2023-12-18 17:00:00"	"https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32e7ed58-ee49-4719-b48e-7fad58012319-2023-12-18T170000.000Z"	""	""	"https://www.clinicalgenome.org/docs/?doc-type=curation-activity-procedures&curation-procedure=gene-disease-validity"	"32e7ed58-ee49-4719-b48e-7fad58012319"	"2024-04-21"
"GENCC_000115-HGNC_30605-OMIM_613811-HP_0000007-GENCC_100001"	"HGNC:30605"	"SEPSECS"	"MONDO:0013438"	"pontocerebellar hypoplasia type 2D"	"OMIM:613811"	"Pontocerebellar hypoplasia type 2D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:30605"	"SEPSECS"	"OMIM:613811"	"Pontocerebellar hypoplasia type 2D"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100001"	"Definitive"	"2023-04-01 00:00:00"	""	""	"34884733"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1342"	"2024-12-04"
"GENCC_000115-HGNC_2494-OMIM_617915-HP_0000006-GENCC_100002"	"HGNC:2494"	"CTBP1"	"MONDO:0060666"	"hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"OMIM:617915"	"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:2494"	"CTBP1"	"OMIM:617915"	"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2024-04-01 00:00:00"	""	""	"36341169"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-2468"	"2024-12-04"
"GENCC_000115-HGNC_12929-OMIM_618371-HP_0000006-GENCC_100002"	"HGNC:12929"	"PCGF2"	"MONDO:0032707"	"turnpenny-fry syndrome"	"OMIM:618371"	"Turnpenny-Fry syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:12929"	"PCGF2"	"OMIM:618371"	"Turnpenny-Fry syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2024-04-01 00:00:00"	""	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-19"	"2024-12-04"
"GENCC_000115-HGNC_19351-OMIM_601331-HP_0000006-GENCC_100003"	"HGNC:19351"	"BICC1"	"MONDO:0011037"	"renal dysplasia, cystic, susceptibility to"	"OMIM:601331"	"{Renal dysplasia, cystic, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:19351"	"BICC1"	"OMIM:601331"	"Renal dysplasia, cystic, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2020-03-06 00:00:00"	""	""	"21922595"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-48"	"2024-12-04"
"GENCC_000115-HGNC_20626-OMIM_214800-HP_0000006-GENCC_100001"	"HGNC:20626"	"CHD7"	"MONDO:0008965"	"CHARGE syndrome"	"OMIM:214800"	"CHARGE syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:20626"	"CHD7"	"OMIM:214800"	"CHARGE syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100001"	"Definitive"	"2024-04-01 00:00:00"	""	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-485"	"2024-12-04"
"GENCC_000115-HGNC_13726-OMIM_617768-HP_0000006-GENCC_100001"	"HGNC:13726"	"KMT2C"	"MONDO:0054701"	"Kleefstra syndrome 2"	"OMIM:617768"	"Kleefstra syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:13726"	"KMT2C"	"OMIM:617768"	"Kleefstra syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100001"	"Definitive"	"2024-04-01 00:00:00"	""	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-183"	"2024-12-04"
"GENCC_000115-HGNC_29029-OMIM_620445-HP_0000007-GENCC_100002"	"HGNC:29029"	"TTI1"	"MONDO:0957531"	"neurodevelopmental disorder with microcephaly and movement abnormalities"	"OMIM:620445"	"Neurodevelopmental disorder with microcephaly and movement abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:29029"	"TTI1"	"OMIM:620445"	"Neurodevelopmental disorder with microcephaly and movement abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2023-03-06 00:00:00"	""	""	"26539891, 26539891, 36724785, 30315573, 27435318"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1593"	"2024-12-04"
"GENCC_000115-HGNC_29308-MONDO_0800439-HP_0000006-GENCC_100003"	"HGNC:29308"	"FBRSL1"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:29308"	"FBRSL1"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2022-02-08 00:00:00"	""	""	"32424618"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1048"	"2024-12-04"
"GENCC_000115-HGNC_29678-OMIM_617675-HP_0000007-GENCC_100001"	"HGNC:29678"	"MSTO1"	"MONDO:0044714"	"mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"	"OMIM:617675"	"Myopathy, mitochondrial, and ataxia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:29678"	"MSTO1"	"OMIM:617675"	"Myopathy, mitochondrial, and ataxia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100001"	"Definitive"	"2024-04-01 00:00:00"	""	""	"28554942, 30684668, 28544275, 31463572"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1105"	"2024-12-04"
"GENCC_000115-HGNC_19090-MONDO_0005151-HP_0000006-GENCC_100004"	"HGNC:19090"	"EBF2"	"MONDO:0005151"	"endocrine system disorder"	"MONDO:0005151"	"endocrine system disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:19090"	"EBF2"	"MONDO:0005151"	"Type 1 diabetes, hypertriglyceridemia, and hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100004"	"Limited"	"2020-07-28 00:00:00"	""	""	"12466206, 28428261"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1149"	"2024-12-04"
"GENCC_000115-HGNC_11571-MONDO_0007827-HP_0000006-GENCC_100004"	"HGNC:11571"	"TARDBP"	"MONDO:0007827"	"inclusion body myositis"	"MONDO:0007827"	"inclusion body myositis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:11571"	"TARDBP"	"MONDO:0007827"	"Inclusion body myositis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100004"	"Limited"	"2023-07-01 00:00:00"	""	""	"28256728, 20959352"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1303"	"2024-12-04"
"GENCC_000115-HGNC_4384-OMIM_619854-HP_0000006-GENCC_100002"	"HGNC:4384"	"GNAI1"	"MONDO:0859243"	"neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	"OMIM:619854"	"Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:4384"	"GNAI1"	"OMIM:619854"	"Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2020-11-05 00:00:00"	""	""	"28135719, 33473207"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-610"	"2024-12-04"
"GENCC_000115-HGNC_8619-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:8619"	"PAX5"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:8619"	"PAX5"	"MONDO:0700092"	"Neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2021-09-16 00:00:00"	""	""	"25418537, 30559488, 35094443"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1532"	"2024-12-04"
"GENCC_000115-HGNC_12729-OMIM_617721-HP_0000006-GENCC_100003"	"HGNC:12729"	"WARS1"	"MONDO:0060585"	"neuronopathy, distal hereditary motor, type 9"	"OMIM:617721"	"Neuronopathy, distal hereditary motor, autosomal dominant 9"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:12729"	"WARS1"	"OMIM:617721"	"Neuronopathy, distal hereditary motor, autosomal dominant 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2022-06-14 00:00:00"	""	""	"28369220, 34813128, 34585293, 31069783, 31321409"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1823"	"2024-12-04"
"GENCC_000115-HGNC_7104-OMIM_617228-HP_0000007-GENCC_100002"	"HGNC:7104"	"MIPEP"	"MONDO:0014976"	"lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"	"OMIM:617228"	"Combined oxidative phosphorylation deficiency 31"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:7104"	"MIPEP"	"OMIM:617228"	"Combined oxidative phosphorylation deficiency 31"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2019-11-22 00:00:00"	""	""	"27799064, 10783257"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-466"	"2024-12-04"
"GENCC_000115-HGNC_13871-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:13871"	"CPSF6"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:13871"	"CPSF6"	"MONDO:0700092"	"Neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100004"	"Limited"	"2023-10-23 00:00:00"	""	""	"36800428"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-2112"	"2024-12-04"
"GENCC_000115-HGNC_2021-OMIM_619512-HP_0000006-GENCC_100003"	"HGNC:2021"	"CLCN3"	"MONDO:0859187"	"neurodevelopmental disorder with hypotonia and brain abnormalities"	"OMIM:619512"	"Neurodevelopmental disorder with hypotonia and brain abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:2021"	"CLCN3"	"OMIM:619512"	"Neurodevelopmental disorder with hypotonia and brain abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2018-12-10 00:00:00"	""	""	"24309898, 12059962, 12470859, 11182090"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-231"	"2024-12-04"
"GENCC_000115-HGNC_34016-MONDO_0100558-HP_0000007-GENCC_100002"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0100558"	"RNU4ATAC spectrum disorder"	"MONDO:0100558"	"RNU4ATAC spectrum disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:34016"	"RNU4ATAC"	"MONDO:0100558"	"RNU4ATAC spectrum disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2022-08-16 00:00:00"	""	""	"30368667, 26522830, 21474760, 36802443"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-248"	"2024-12-04"
"GENCC_000115-HGNC_30939-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:30939"	"ZFHX4"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:30939"	"ZFHX4"	"MONDO:0700092"	"Neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2019-09-03 00:00:00"	""	""	"29463886, 16946494, 24440720"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-251"	"2024-12-04"
"GENCC_000115-HGNC_777-MONDO_0800439-HP_0000006-GENCC_100002"	"HGNC:777"	"ZFHX3"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:777"	"ZFHX3"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2024-04-01 00:00:00"	""	""	"29718741, 38412861"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-379"	"2024-12-04"
"GENCC_000115-HGNC_9260-OMIM_619301-HP_0000007-GENCC_100003"	"HGNC:9260"	"PPIL1"	"MONDO:0030258"	"pontocerebellar hypoplasia, type 14"	"OMIM:619301"	"Pontocerebellar hypoplasia, type 14"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:9260"	"PPIL1"	"OMIM:619301"	"Pontocerebellar hypoplasia, type 14"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2019-01-30 00:00:00"	""	""	"8978786, 30518120, 33220177"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-434"	"2024-12-04"
"GENCC_000115-HGNC_9187-OMIM_618603-HP_0000006-GENCC_100002"	"HGNC:9187"	"POLR2A"	"MONDO:0032829"	"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"OMIM:618603"	"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:9187"	"POLR2A"	"OMIM:618603"	"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2019-09-01 00:00:00"	""	""	"31353023"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-477"	"2024-12-04"
"GENCC_000115-HGNC_18704-MONDO_0100124-HP_0001417-GENCC_100001"	"HGNC:18704"	"NAA10"	"MONDO:0100124"	"NAA10-related syndrome"	"MONDO:0100124"	"NAA10-related syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:18704"	"NAA10"	"MONDO:0100124"	"NAA10-related syndrome"	"HP:0001417"	"X-linked inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100001"	"Definitive"	"2024-04-01 00:00:00"	""	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-508"	"2024-12-04"
"GENCC_000115-HGNC_13429-OMIM_300978-HP_0001417-GENCC_100002"	"HGNC:13429"	"RLIM"	"MONDO:0010506"	"intellectual disability, X-linked 61"	"OMIM:300978"	"Tonne-Kalscheuer syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:13429"	"RLIM"	"OMIM:300978"	"Intellectual disability, X-linked 61"	"HP:0001417"	"X-linked inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2020-11-12 00:00:00"	""	""	"29728705, 25644381, 25735484, 29742418"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-683"	"2024-12-04"
"GENCC_000115-HGNC_10193-MONDO_0800439-HP_0000006-GENCC_100002"	"HGNC:10193"	"RNU4-2"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:10193"	"RNU4-2"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100002"	"Strong"	"2024-05-01 00:00:00"	""	""	"38645094 "	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-119"	"2024-12-04"
"GENCC_000115-HGNC_164-OMIM_618655-HP_0000006-GENCC_100004"	"HGNC:164"	"ACTN2"	"MONDO:0032853"	"myopathy, distal, 6, adult-onset, autosomal dominant"	"OMIM:618655"	"Myopathy, distal, 6, adult onset"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:164"	"ACTN2"	"OMIM:618655"	"Myopathy, distal, 6, adult onset"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100004"	"Limited"	"2023-05-17 00:00:00"	""	""	"30900782, 34170073, 34386585, 36116040"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1434"	"2024-12-04"
"GENCC_000115-HGNC_26611-OMIM_620250-HP_0000007-GENCC_100003"	"HGNC:26611"	"HECTD4"	"MONDO:0859516"	"neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:26611"	"HECTD4"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2024-07-02 00:00:00"	""	""	"36401616"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1830"	"2024-12-04"
"GENCC_000115-HGNC_564-OMIM_618587-HP_0000006-GENCC_100003"	"HGNC:564"	"AP2M1"	"MONDO:0032823"	"intellectual developmental disorder 60 with seizures"	"OMIM:618587"	"Intellectual developmental disorder 60 with seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:564"	"AP2M1"	"OMIM:618587"	"Intellectual developmental disorder 60 with seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2024-07-26 00:00:00"	""	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-2267"	"2024-12-04"
"GENCC_000115-HGNC_4341-OMIM_620806-HP_0000006-GENCC_100003"	"HGNC:4341"	"GLUL"	""	""	"OMIM:620806"	"Developmental and epileptic encephalopathy 116"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:4341"	"GLUL"	"OMIM:620806"	"Developmental and epileptic encephalopathy 116"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100003"	"Moderate"	"2024-08-01 00:00:00"	""	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-123"	"2024-12-04"
"GENCC_000115-HGNC_9440-MONDO_0800439-HP_0000007-GENCC_100004"	"HGNC:9440"	"THAP12"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:9440"	"THAP12"	"MONDO:0800439"	"Syndromic complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100004"	"Limited"	"2024-05-24 00:00:00"	""	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-431"	"2024-12-04"
"GENCC_000115-HGNC_27023-MONDO_0019952-HP_0000007-GENCC_100004"	"HGNC:27023"	"COL6A6"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"HGNC:27023"	"COL6A6"	"MONDO:0019952"	"Congential myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000115"	"Broad Center for Mendelian Genomics"	"GENCC:100004"	"Limited"	"2024-08-02 00:00:00"	""	""	""	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"BroadCMG-RGP-1157"	"2024-12-04"
"GENCC_000101-HGNC_493-MONDO_0010958-HP_0000006-GENCC_100004"	"HGNC:493"	"ANK2"	"MONDO:0010958"	"cardiac arrhythmia, ankyrin-B-related"	"MONDO:0010958"	"cardiac arrhythmia, ankyrin-B-related"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:493"	"ANK2"	"MONDO:0010958"	"cardiac arrhythmia, ankyrin-B-related"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2021-09-02 12:08:07"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"654"	"2025-01-17"
"GENCC_000101-HGNC_493-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:493"	"ANK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:493"	"ANK2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2015-08-28 12:08:07"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"655"	"2025-01-17"
"GENCC_000101-HGNC_16627-MONDO_0700271-HP_0000006-GENCC_100001"	"HGNC:16627"	"CHEK2"	"MONDO:0700271"	"CHEK2-related cancer predisposition"	"MONDO:0700271"	"CHEK2-related cancer predisposition"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16627"	"CHEK2"	"MONDO:0700271"	"CHEK2-related cancer predisposition"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2018-05-14 12:08:07"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"88622"	"2025-01-17"
"GENCC_000101-HGNC_25662-OMIM_148600-HP_0000006-GENCC_100001"	"HGNC:25662"	"AAGAB"	"MONDO:0007858"	"palmoplantar keratoderma, punctate type 1A"	"OMIM:148600"	"Keratoderma, palmoplantar, punctate type IA"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25662"	"AAGAB"	"OMIM:148600"	"Keratoderma, palmoplantar, punctate type IA"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-05-29 12:08:07"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61870"	"2025-01-17"
"GENCC_000101-HGNC_76-MONDO_0005497-HP_0000007-GENCC_100004"	"HGNC:76"	"ABL1"	"MONDO:0005497"	"bone development disease"	"MONDO:0005497"	"bone development disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:76"	"ABL1"	"MONDO:0005497"	"bone development disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-19 12:08:07"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42485"	"2025-01-17"
"GENCC_000101-HGNC_84-OMIM_613933-HP_0000007-GENCC_100004"	"HGNC:84"	"ACACA"	"MONDO:0013493"	"acetyl-coa carboxylase deficiency"	"OMIM:613933"	"Acetyl-CoA carboxylase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:84"	"ACACA"	"OMIM:613933"	"Acetyl-CoA carboxylase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-03 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"98222"	"2025-01-17"
"GENCC_000101-HGNC_3571-OMIM_300387-HP_0001417-GENCC_100003"	"HGNC:3571"	"ACSL4"	"MONDO:0010313"	"intellectual disability, X-linked 63"	"OMIM:300387"	"Intellectual developmental disorder, X-linked 63"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3571"	"ACSL4"	"OMIM:300387"	"Intellectual developmental disorder, X-linked 63"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-18 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"811"	"2025-01-17"
"GENCC_000101-HGNC_132-OMIM_620475-HP_0000006-GENCC_100003"	"HGNC:132"	"ACTB"	"MONDO:0100433"	"ACTB-associated syndromic thrombocytopenia"	"OMIM:620475"	"Thrombocytopenia 8, with dysmorphic features and developmental delay"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:132"	"ACTB"	"OMIM:620475"	"Thrombocytopenia 8, with dysmorphic features and developmental delay"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-29 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42950"	"2025-01-17"
"GENCC_000101-HGNC_225-OMIM_127400-HP_0000006-GENCC_100001"	"HGNC:225"	"ADAR"	"MONDO:0007483"	"dyschromatosis symmetrica hereditaria"	"OMIM:127400"	"Dyschromatosis symmetrica hereditaria"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:225"	"ADAR"	"OMIM:127400"	"Dyschromatosis symmetrica hereditaria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-01 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92312"	"2025-01-17"
"GENCC_000101-HGNC_281-OMIM_620679-HP_0000006-GENCC_100004"	"HGNC:281"	"ADRA2A"	"MONDO:0958022"	"lipodystrophy, familial partial, type 8"	"OMIM:620679"	"?Lipodystrophy, familial partial, type 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:281"	"ADRA2A"	"OMIM:620679"	"Lipodystrophy, familial partial, type 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-29 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18606"	"2025-01-17"
"GENCC_000101-HGNC_361-OMIM_612631-HP_0000007-GENCC_100003"	"HGNC:361"	"AK1"	"MONDO:0012967"	"hemolytic anemia due to adenylate kinase deficiency"	"OMIM:612631"	"Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:361"	"AK1"	"OMIM:612631"	"Hemolytic anemia due to adenylate kinase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-13 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92381"	"2025-01-17"
"GENCC_000101-HGNC_26777-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:26777"	"ALDH1L2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26777"	"ALDH1L2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-07 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42031"	"2025-01-17"
"GENCC_000101-HGNC_23159-OMIM_607906-HP_0000007-GENCC_100003"	"HGNC:23159"	"ALG2"	"MONDO:0011933"	"ALG2-congenital disorder of glycosylation"	"OMIM:607906"	"Congenital disorder of glycosylation, type Ii"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23159"	"ALG2"	"OMIM:607906"	"Congenital disorder of glycosylation, type Ii"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-13 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67334"	"2025-01-17"
"GENCC_000101-HGNC_17811-MONDO_0000358-HP_0000006-GENCC_100003"	"HGNC:17811"	"AMOTL1"	"MONDO:0000358"	"orofacial cleft"	"MONDO:0000358"	"orofacial cleft"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17811"	"AMOTL1"	"MONDO:0000358"	"orofacial cleft"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-09 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14461"	"2025-01-17"
"GENCC_000101-HGNC_492-OMIM_182900-HP_0000007-GENCC_100004"	"HGNC:492"	"ANK1"	"MONDO:0008447"	"hereditary spherocytosis type 1"	"OMIM:182900"	"Spherocytosis, type 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:492"	"ANK1"	"OMIM:182900"	"Spherocytosis, type 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-07 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"937"	"2025-01-17"
"GENCC_000101-HGNC_24600-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:24600"	"ANKS1B"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24600"	"ANKS1B"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-05 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14879"	"2025-01-17"
"GENCC_000101-HGNC_21625-OMIM_620687-HP_0000006-GENCC_100004"	"HGNC:21625"	"ANO1"	"MONDO:0958202"	"moyamoya disease 7"	"OMIM:620687"	"Moyamoya disease 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21625"	"ANO1"	"OMIM:620687"	"Moyamoya disease 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-01 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42936"	"2025-01-17"
"GENCC_000101-HGNC_23837-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:23837"	"ANO4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23837"	"ANO4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-16 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42114"	"2025-01-17"
"GENCC_000101-HGNC_25240-OMIM_262890-HP_0000007-GENCC_100003"	"HGNC:25240"	"ANO6"	"MONDO:0009885"	"Scott syndrome"	"OMIM:262890"	"Scott syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25240"	"ANO6"	"OMIM:262890"	"Scott syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-07 12:08:08"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42659"	"2025-01-17"
"GENCC_000101-HGNC_583-OMIM_619182-HP_0000006-GENCC_100002"	"HGNC:583"	"APC"	"MONDO:0017790"	"gastric adenocarcinoma and proximal polyposis of the stomach"	"OMIM:619182"	"Gastric adenocarcinoma and proximal polyposis of the stomach"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:583"	"APC"	"OMIM:619182"	"Gastric adenocarcinoma and proximal polyposis of the stomach"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-11 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42112"	"2025-01-17"
"GENCC_000101-HGNC_613-OMIM_611771-HP_0000006-GENCC_100003"	"HGNC:613"	"APOE"	"MONDO:0012725"	"lipoprotein glomerulopathy"	"OMIM:611771"	"Lipoprotein glomerulopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:613"	"APOE"	"OMIM:611771"	"Lipoprotein glomerulopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-31 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42133"	"2025-01-17"
"GENCC_000101-HGNC_24035-OMIM_616511-HP_0000006-GENCC_100004"	"HGNC:24035"	"APPL1"	"MONDO:0014674"	"maturity-onset diabetes of the young type 14"	"OMIM:616511"	"{Maturity-onset diabetes of the young, type 14}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24035"	"APPL1"	"OMIM:616511"	"Maturity-onset diabetes of the young, type 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-23 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74758"	"2025-01-17"
"GENCC_000101-HGNC_638-OMIM_600231-HP_0000006-GENCC_100003"	"HGNC:638"	"AQP5"	"MONDO:0010849"	"palmoplantar keratoderma, Bothnian type"	"OMIM:600231"	"Palmoplantar keratoderma, Bothnian type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:638"	"AQP5"	"OMIM:600231"	"Palmoplantar keratoderma, Bothnian type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-20 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"5395"	"2025-01-17"
"GENCC_000101-HGNC_4591-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:4591"	"ARHGAP35"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4591"	"ARHGAP35"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-12 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15385"	"2025-01-17"
"GENCC_000101-HGNC_685-MONDO_0100284-HP_0001417-GENCC_100004"	"HGNC:685"	"ARHGEF6"	"MONDO:0100284"	"X-linked intellectual disability"	"MONDO:0100284"	"X-linked intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:685"	"ARHGEF6"	"MONDO:0100284"	"X-linked intellectual disability"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-20 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64833"	"2025-01-17"
"GENCC_000101-HGNC_685-MONDO_0019719-HP_0001417-GENCC_100004"	"HGNC:685"	"ARHGEF6"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:685"	"ARHGEF6"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-20 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42467"	"2025-01-17"
"GENCC_000101-HGNC_14561-OMIM_300607-HP_0001417-GENCC_100001"	"HGNC:14561"	"ARHGEF9"	"MONDO:0010375"	"developmental and epileptic encephalopathy, 8"	"OMIM:300607"	"Developmental and epileptic encephalopathy 8"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14561"	"ARHGEF9"	"OMIM:300607"	"Developmental and epileptic encephalopathy 8"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-15 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"706"	"2025-01-17"
"GENCC_000101-HGNC_708-OMIM_620565-HP_0000007-GENCC_100003"	"HGNC:708"	"ARPC5"	"MONDO:0957920"	"immunodeficiency 113 with autoimmunity and autoinflammation"	"OMIM:620565"	"Immunodeficiency 113 with autoimmunity and autoinflammation"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:708"	"ARPC5"	"OMIM:620565"	"Immunodeficiency 133 with autoimmunity and autoinflammation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-06 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42683"	"2025-01-17"
"GENCC_000101-HGNC_588-MONDO_0005575-HP_0000006-GENCC_100004"	"HGNC:588"	"ATG12"	"MONDO:0005575"	"colorectal cancer"	"MONDO:0005575"	"colorectal cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:588"	"ATG12"	"MONDO:0005575"	"colorectal cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-31 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42131"	"2025-01-17"
"GENCC_000101-HGNC_589-OMIM_617584-HP_0000007-GENCC_100004"	"HGNC:589"	"ATG5"	"MONDO:0033115"	"spinocerebellar ataxia, autosomal recessive 25"	"OMIM:617584"	"?Spinocerebellar ataxia, autosomal recessive 25"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:589"	"ATG5"	"OMIM:617584"	"Spinocerebellar ataxia, autosomal recessive 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-22 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"16468"	"2025-01-17"
"GENCC_000101-HGNC_16935-OMIM_619422-HP_0000007-GENCC_100004"	"HGNC:16935"	"ATG7"	"MONDO:0030323"	"spinocerebellar ataxia, autosomal recessive 31"	"OMIM:619422"	"Spinocerebellar ataxia, autosomal recessive 31"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16935"	"ATG7"	"OMIM:619422"	"Spinocerebellar ataxia, autosomal recessive 31"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-02 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13852"	"2025-01-17"
"GENCC_000101-HGNC_795-MONDO_0018630-HP_0000006-GENCC_100004"	"HGNC:795"	"ATM"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:795"	"ATM"	"MONDO:0018630"	"hereditary non-polyposis colon cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-23 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71192"	"2025-01-17"
"GENCC_000101-HGNC_795-MONDO_0004950-HP_0000006-GENCC_100004"	"HGNC:795"	"ATM"	"MONDO:0004950"	"gastric carcinoma"	"MONDO:0004950"	"gastric carcinoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:795"	"ATM"	"MONDO:0004950"	"gastric carcinoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-23 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42769"	"2025-01-17"
"GENCC_000101-HGNC_13554-OMIM_301015-HP_0001417-GENCC_100004"	"HGNC:13554"	"ATP11C"	"MONDO:0060455"	"X-linked congenital hemolytic anemia"	"OMIM:301015"	"?Hemolytic anemia, congenital, X-linked"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13554"	"ATP11C"	"OMIM:301015"	"Hemolytic anemia, congenital, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-31 12:08:09"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"19165"	"2025-01-17"
"GENCC_000101-HGNC_800-OMIM_619605-HP_0000006-GENCC_100002"	"HGNC:800"	"ATP1A2"	"MONDO:0030472"	"developmental and epileptic encephalopathy 98"	"OMIM:619605"	"Developmental and epileptic encephalopathy 98"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:800"	"ATP1A2"	"OMIM:619605"	"Developmental and epileptic encephalopathy 98"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-01-17 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11859"	"2025-01-17"
"GENCC_000101-HGNC_801-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:801"	"ATP1A3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:801"	"ATP1A3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-29 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42172"	"2025-01-17"
"GENCC_000101-HGNC_814-OMIM_619910-HP_0000007-GENCC_100004"	"HGNC:814"	"ATP2B1"	"MONDO:0030891"	"intellectual developmental disorder, autosomal dominant 66"	"OMIM:619910"	"Intellectual developmental disorder, autosomal dominant 66"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:814"	"ATP2B1"	"OMIM:619910"	"Intellectual developmental disorder, autosomal dominant 66"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-09 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14587"	"2025-01-17"
"GENCC_000101-HGNC_815-OMIM_619804-HP_0000006-GENCC_100001"	"HGNC:815"	"ATP2B2"	"MONDO:0030719"	"hearing loss, autosomal dominant 82"	"OMIM:619804"	"Deafness, autosomal dominant 82"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:815"	"ATP2B2"	"OMIM:619804"	"Deafness, autosomal dominant 82"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-12-05 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11466"	"2025-01-17"
"GENCC_000101-HGNC_815-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:815"	"ATP2B2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:815"	"ATP2B2"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-12-05 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42479"	"2025-01-17"
"GENCC_000101-HGNC_13211-OMIM_169600-HP_0000006-GENCC_100001"	"HGNC:13211"	"ATP2C1"	"MONDO:0008218"	"Hailey-Hailey disease"	"OMIM:169600"	"Hailey-Hailey disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13211"	"ATP2C1"	"OMIM:169600"	"Hailey-Hailey disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-07-03 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61406"	"2025-01-17"
"GENCC_000101-HGNC_25416-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:25416"	"ATXN7L3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25416"	"ATXN7L3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-31 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42120"	"2025-01-17"
"GENCC_000101-HGNC_932-OMIM_619232-HP_0000007-GENCC_100004"	"HGNC:932"	"BAAT"	"MONDO:0030991"	"bile acid conjugation defect 1"	"OMIM:619232"	"Hypercholanemia, familial 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:932"	"BAAT"	"OMIM:619232"	"Bile acid conjugation defect 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-21 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"138"	"2025-01-17"
"GENCC_000101-HGNC_14078-MONDO_0032723-HP_0000006-GENCC_100003"	"HGNC:14078"	"BACH2"	"MONDO:0032723"	"immunodeficiency 60"	"MONDO:0032723"	"immunodeficiency 60"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14078"	"BACH2"	"MONDO:0032723"	"immunodeficiency 60"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-07 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11818"	"2025-01-17"
"GENCC_000101-HGNC_941-OMIM_619747-HP_0000007-GENCC_100003"	"HGNC:941"	"BAG5"	"MONDO:0030680"	"cardiomyopathy, dilated, 2F"	"OMIM:619747"	"Cardiomyopathy, dilated, 2F"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:941"	"BAG5"	"OMIM:619747"	"Cardiomyopathy, dilated, 2F"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-19 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42089"	"2025-01-17"
"GENCC_000101-HGNC_983-OMIM_617936-HP_0000007-GENCC_100001"	"HGNC:983"	"BCHE"	"MONDO:0015270"	"butyrylcholinesterase deficiency"	"OMIM:617936"	"{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:983"	"BCHE"	"OMIM:617936"	"Apnea, postanesthetic, susceptibility to, due to BCHE deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-06-14 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92402"	"2025-01-17"
"GENCC_000101-HGNC_989-OMIM_616098-HP_0000007-GENCC_100003"	"HGNC:989"	"BCL10"	"MONDO:0014491"	"immunodeficiency 37"	"OMIM:616098"	"?Immunodeficiency 37"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:989"	"BCL10"	"OMIM:616098"	"Immunodeficiency 37"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-01-24 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42908"	"2025-01-17"
"GENCC_000101-HGNC_20893-OMIM_300166-HP_0001417-GENCC_100004"	"HGNC:20893"	"BCOR"	"MONDO:0010261"	"microphthalmia, syndromic 2"	"OMIM:300166"	"Microphthalmia, syndromic 2"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20893"	"BCOR"	"OMIM:300166"	"Microphthalmia, syndromic 2"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-30 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61725"	"2025-01-17"
"GENCC_000101-HGNC_1040-OMIM_611391-HP_0000007-GENCC_100004"	"HGNC:1040"	"BFSP1"	"MONDO:0012665"	"cataract 33"	"OMIM:611391"	"Cataract 33, multiple types"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1040"	"BFSP1"	"OMIM:611391"	"Cataract 33, multiple types"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-12 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"3038"	"2025-01-17"
"GENCC_000101-HGNC_1041-MONDO_0011060-HP_0000007-GENCC_100003"	"HGNC:1041"	"BFSP2"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1041"	"BFSP2"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"472"	"2025-01-17"
"GENCC_000101-HGNC_1041-OMIM_611597-HP_0000006-GENCC_100003"	"HGNC:1041"	"BFSP2"	"MONDO:0012701"	"cataract 12 multiple types"	"OMIM:611597"	"Cataract 12, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1041"	"BFSP2"	"OMIM:611597"	"Cataract 12, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-24 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78708"	"2025-01-17"
"GENCC_000101-HGNC_35126-MONDO_0018050-HP_0000006-GENCC_100002"	"HGNC:35126"	"BHLHA9"	"MONDO:0018050"	"tibial aplasia-ectrodactyly syndrome"	"MONDO:0018050"	"tibial aplasia-ectrodactyly syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:35126"	"BHLHA9"	"MONDO:0018050"	"tibial aplasia-ectrodactyly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-12-06 12:08:10"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"3033"	"2025-01-17"
"GENCC_000101-HGNC_1051-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:1051"	"BIK"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1051"	"BIK"	"MONDO:0008315"	"prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-31 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42137"	"2025-01-17"
"GENCC_000101-HGNC_1058-MONDO_0018630-HP_0000006-GENCC_100005"	"HGNC:1058"	"BLM"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"MONDO:0018630"	"hereditary nonpolyposis colon cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1058"	"BLM"	"MONDO:0018630"	"hereditary non-polyposis colon cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2024-06-04 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15014"	"2025-01-17"
"GENCC_000101-HGNC_1062-OMIM_614156-HP_0000006-GENCC_100004"	"HGNC:1062"	"BLVRA"	"MONDO:0013595"	"hyperbiliverdinemia"	"OMIM:614156"	"Hyperbiliverdinemia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1062"	"BLVRA"	"OMIM:614156"	"Hyperbiliverdinemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-21 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"418"	"2025-01-17"
"GENCC_000101-HGNC_1068-OMIM_300510-HP_0001417-GENCC_100003"	"HGNC:1068"	"BMP15"	"MONDO:0010349"	"ovarian dysgenesis 2"	"OMIM:300510"	"Ovarian dysgenesis 2"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1068"	"BMP15"	"OMIM:300510"	"Premature ovarian failure 4"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"16137"	"2025-01-17"
"GENCC_000101-HGNC_37247-MONDO_0024237-HP_0000007-GENCC_100004"	"HGNC:37247"	"BORCS8"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:37247"	"BORCS8"	"MONDO:0024237"	"inherited neurodegenerative disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-18 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42701"	"2025-01-17"
"GENCC_000101-HGNC_1093-OMIM_222800-HP_0000007-GENCC_100004"	"HGNC:1093"	"BPGM"	"MONDO:0009113"	"hemolytic anemia due to diphosphoglycerate mutase deficiency"	"OMIM:222800"	"Erythrocytosis, familial, 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1093"	"BPGM"	"OMIM:222800"	"Erythrocytosis, familial, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-19 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42778"	"2025-01-17"
"GENCC_000101-HGNC_1101-OMIM_155255-HP_0000006-GENCC_100004"	"HGNC:1101"	"BRCA2"	"MONDO:0007959"	"medulloblastoma"	"OMIM:155255"	"{Medulloblastoma}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1101"	"BRCA2"	"OMIM:155255"	"Medulloblastoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-20 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"3119"	"2025-01-17"
"GENCC_000101-HGNC_12760-OMIM_620438-HP_0000007-GENCC_100004"	"HGNC:12760"	"BRWD1"	"MONDO:0957396"	"ciliary dyskinesia, primary, 51"	"OMIM:620438"	"Ciliary dyskinesia, primary, 51"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12760"	"BRWD1"	"OMIM:620438"	"Ciliary dyskinesia, primary, 51"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-07 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42791"	"2025-01-17"
"GENCC_000101-HGNC_15832-OMIM_615924-HP_0000006-GENCC_100004"	"HGNC:15832"	"BSCL2"	"MONDO:0014402"	"severe neurodegenerative syndrome with lipodystrophy"	"OMIM:615924"	"Encephalopathy, progressive, with or without lipodystrophy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15832"	"BSCL2"	"OMIM:615924"	"Encephalopathy, progressive, with or without lipodystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-30 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42972"	"2025-01-17"
"GENCC_000101-HGNC_20127-MONDO_0016660-HP_0000007-GENCC_100004"	"HGNC:20127"	"TEDC1"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20127"	"C14orf80"	"MONDO:0016660"	"autosomal recessive primary microcephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-01 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42091"	"2025-01-17"
"GENCC_000101-HGNC_24641-OMIM_619135-HP_0000007-GENCC_100004"	"HGNC:24641"	"VPS35L"	"MONDO:0030864"	"Ritscher-Schinzel syndrome 3"	"OMIM:619135"	"Ritscher-Schinzel syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24641"	"C16orf62"	"OMIM:619135"	"Ritscher-Schinzel syndrome 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-15 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42487"	"2025-01-17"
"GENCC_000101-HGNC_1248-OMIM_217000-HP_0000007-GENCC_100002"	"HGNC:1248"	"C2"	"MONDO:0009006"	"complement component 2 deficiency"	"OMIM:217000"	"C2 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1248"	"C2"	"OMIM:217000"	"C2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-01 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92116"	"2025-01-17"
"GENCC_000101-HGNC_1324-OMIM_614379-HP_0000007-GENCC_100008"	"HGNC:1324"	"C4B"	"MONDO:0013720"	"complement component 4b deficiency"	"OMIM:614379"	"C4B deficiency"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1324"	"C4B"	"OMIM:614379"	"C4B deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2024-07-03 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42717"	"2025-01-17"
"GENCC_000101-HGNC_1339-OMIM_612446-HP_0000007-GENCC_100002"	"HGNC:1339"	"C6"	"MONDO:0012908"	"complement component 6 deficiency"	"OMIM:612446"	"C6 deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1339"	"C6"	"OMIM:612446"	"C6 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-01-25 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92172"	"2025-01-17"
"GENCC_000101-HGNC_17601-OMIM_619519-HP_0000006-GENCC_100003"	"HGNC:17601"	"CADM3"	"MONDO:0030433"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	"OMIM:619519"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17601"	"CADM3"	"OMIM:619519"	"Charcot-Marie-Tooth disease, axonal, type 2FF"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-06 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11361"	"2025-01-17"
"GENCC_000101-HGNC_1462-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:1462"	"CAMK2D"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1462"	"CAMK2D"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-10 12:08:11"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42887"	"2025-01-17"
"GENCC_000101-HGNC_20039-OMIM_620462-HP_0000007-GENCC_100003"	"HGNC:20039"	"CAP2"	"MONDO:0957545"	"cardiomyopathy, dilated, 2I"	"OMIM:620462"	"Cardiomyopathy, dilated, 2I"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20039"	"CAP2"	"OMIM:620462"	"Cardiomyopathy, dilated, 2I"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13938"	"2025-01-17"
"GENCC_000101-HGNC_6743-OMIM_620636-HP_0000006-GENCC_100004"	"HGNC:6743"	"CAPRIN1"	"MONDO:0957985"	"neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline"	"OMIM:620636"	"Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6743"	"CAPRIN1"	"OMIM:620636"	"Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-09 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42983"	"2025-01-17"
"GENCC_000101-HGNC_16393-OMIM_615206-HP_0000007-GENCC_100003"	"HGNC:16393"	"CARD11"	"MONDO:0014081"	"severe combined immunodeficiency due to CARD11 deficiency"	"OMIM:615206"	"Immunodeficiency 11A"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16393"	"CARD11"	"OMIM:615206"	"Immunodeficiency 11A"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-08 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78151"	"2025-01-17"
"GENCC_000101-HGNC_16393-OMIM_616452-HP_0000006-GENCC_100002"	"HGNC:16393"	"CARD11"	"MONDO:0014645"	"BENTA disease"	"OMIM:616452"	"B-cell expansion with NFKB and T-cell anergy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16393"	"CARD11"	"OMIM:616452"	"B-cell expansion with NFKB and T-cell anergy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-12-12 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74106"	"2025-01-17"
"GENCC_000101-HGNC_16393-OMIM_617638-HP_0000006-GENCC_100002"	"HGNC:16393"	"CARD11"	"MONDO:0054697"	"immunodeficiency 11b with atopic dermatitis"	"OMIM:617638"	"Immunodeficiency 11B with atopic dermatitis"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16393"	"CARD11"	"OMIM:617638"	"Immunodeficiency 11B with atopic dermatitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-12-12 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11611"	"2025-01-17"
"GENCC_000101-HGNC_1503-OMIM_620653-HP_0000007-GENCC_100004"	"HGNC:1503"	"CASP2"	"MONDO:0957999"	"intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly"	"OMIM:620653"	"Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1503"	"CASP2"	"OMIM:620653"	"Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-12-14 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"82209"	"2025-01-17"
"GENCC_000101-HGNC_28910-MONDO_0017198-HP_0001417-GENCC_100004"	"HGNC:28910"	"CCDC120"	"MONDO:0017198"	"osteopetrosis"	"MONDO:0017198"	"osteopetrosis"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28910"	"CCDC120"	"MONDO:0017198"	"osteopetrosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-13 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42023"	"2025-01-17"
"GENCC_000101-HGNC_1616-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:1616"	"CCT3"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1616"	"CCT3"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-25 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42497"	"2025-01-17"
"GENCC_000101-HGNC_1617-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:1617"	"CCT4"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1617"	"CCT4"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-26 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42495"	"2025-01-17"
"GENCC_000101-HGNC_1618-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:1618"	"CCT5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1618"	"CCT5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-26 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42493"	"2025-01-17"
"GENCC_000101-HGNC_1620-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:1620"	"CCT6A"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1620"	"CCT6A"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-26 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42494"	"2025-01-17"
"GENCC_000101-HGNC_1622-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:1622"	"CCT7"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1622"	"CCT7"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-26 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42402"	"2025-01-17"
"GENCC_000101-HGNC_1623-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:1623"	"CCT8"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1623"	"CCT8"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-04 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42403"	"2025-01-17"
"GENCC_000101-HGNC_1653-OMIM_620901-HP_0000007-GENCC_100004"	"HGNC:1653"	"CD28"	"MONDO:0971177"	"immunodeficiency 123 with HPV-related verrucosis"	"OMIM:620901"	"?Immunodeficiency 123 with HPV-related verrucosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1653"	"CD28"	"OMIM:620901"	"Immunodeficiency 123 with HPV-related verrucosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-08 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42424"	"2025-01-17"
"GENCC_000101-HGNC_1678-OMIM_619238-HP_0000007-GENCC_100003"	"HGNC:1678"	"CD4"	"MONDO:0030981"	"immunodeficiency 79"	"OMIM:619238"	"Immunodeficiency 79"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1678"	"CD4"	"OMIM:619238"	"Immunodeficiency 79"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-28 12:08:12"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42718"	"2025-01-17"
"GENCC_000101-HGNC_1698-OMIM_613501-HP_0000007-GENCC_100002"	"HGNC:1698"	"CD79A"	"MONDO:0013288"	"agammaglobulinemia 3, autosomal recessive"	"OMIM:613501"	"Agammaglobulinemia 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1698"	"CD79A"	"OMIM:613501"	"Agammaglobulinemia 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-06-17 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92775"	"2025-01-17"
"GENCC_000101-HGNC_1699-OMIM_612692-HP_0000007-GENCC_100003"	"HGNC:1699"	"CD79B"	"MONDO:0012987"	"agammaglobulinemia 6, autosomal recessive"	"OMIM:612692"	"Agammaglobulinemia 6"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1699"	"CD79B"	"OMIM:612692"	"Agammaglobulinemia 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-22 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92774"	"2025-01-17"
"GENCC_000101-HGNC_1706-OMIM_608957-HP_0000007-GENCC_100004"	"HGNC:1706"	"CD8A"	"MONDO:0012161"	"susceptibility to respiratory infections associated with CD8alpha chain mutation"	"OMIM:608957"	"Immunodeficiency 116"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1706"	"CD8A"	"OMIM:608957"	"Immunodeficiency 116"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-23 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"8235"	"2025-01-17"
"GENCC_000101-HGNC_1748-MONDO_0054740-HP_0000006-GENCC_100002"	"HGNC:1748"	"CDH1"	"MONDO:0054740"	"blepharocheilodontic syndrome 1"	"MONDO:0054740"	"blepharocheilodontic syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1748"	"CDH1"	"MONDO:0054740"	"blepharocheilodontic syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-08 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17598"	"2025-01-17"
"GENCC_000101-HGNC_1748-MONDO_0010927-HP_0000006-GENCC_100003"	"HGNC:1748"	"CDH1"	"MONDO:0010927"	"orofacial cleft 3"	"MONDO:0010927"	"orofacial cleft 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1748"	"CDH1"	"MONDO:0010927"	"orofacial cleft 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-08 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42423"	"2025-01-17"
"GENCC_000101-HGNC_1750-MONDO_0030674-HP_0000006-GENCC_100003"	"HGNC:1750"	"CDH11"	"MONDO:0030674"	"Teebi hypertelorism syndrome 2"	"MONDO:0030674"	"Teebi hypertelorism syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1750"	"CDH11"	"MONDO:0030674"	"Teebi hypertelorism syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-28 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42139"	"2025-01-17"
"GENCC_000101-HGNC_1785-OMIM_610755-HP_0000006-GENCC_100003"	"HGNC:1785"	"CDKN1B"	"MONDO:0012552"	"multiple endocrine neoplasia type 4"	"OMIM:610755"	"Multiple endocrine neoplasia, type IV"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1785"	"CDKN1B"	"OMIM:610755"	"Multiple endocrine neoplasia, type IV"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-20 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92793"	"2025-01-17"
"GENCC_000101-HGNC_1787-OMIM_606719-HP_0000006-GENCC_100001"	"HGNC:1787"	"CDKN2A"	"MONDO:0011713"	"melanoma-pancreatic cancer syndrome"	"OMIM:606719"	"{Melanoma-pancreatic cancer syndrome}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1787"	"CDKN2A"	"OMIM:606719"	"Melanoma-pancreatic cancer syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-12-19 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92795"	"2025-01-17"
"GENCC_000101-HGNC_17104-MONDO_0013642-HP_0000006-GENCC_100003"	"HGNC:17104"	"CDON"	"MONDO:0013642"	"holoprosencephaly 11"	"MONDO:0013642"	"holoprosencephaly 11"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17104"	"CDON"	"MONDO:0013642"	"holoprosencephaly 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-13 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17126"	"2025-01-17"
"GENCC_000101-HGNC_2550-OMIM_619561-HP_0000006-GENCC_100003"	"HGNC:2550"	"CELF2"	"MONDO:0030453"	"developmental and epileptic encephalopathy 97"	"OMIM:619561"	"Developmental and epileptic encephalopathy 97"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2550"	"CELF2"	"OMIM:619561"	"Developmental and epileptic encephalopathy 97"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-20 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14513"	"2025-01-17"
"GENCC_000101-HGNC_14015-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:14015"	"CELF4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14015"	"CELF4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-26 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11442"	"2025-01-17"
"GENCC_000101-HGNC_29182-OMIM_614845-HP_0000007-GENCC_100003"	"HGNC:29182"	"CEP164"	"MONDO:0013917"	"nephronophthisis 15"	"OMIM:614845"	"Nephronophthisis 15"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29182"	"CEP164"	"OMIM:614845"	"Nephronophthisis 15"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-13 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17785"	"2025-01-17"
"GENCC_000101-HGNC_28209-OMIM_615703-HP_0000007-GENCC_100003"	"HGNC:28209"	"CEP19"	"MONDO:0014309"	"obesity due to CEP19 deficiency"	"OMIM:615703"	"Morbid obesity and spermatogenic failure"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28209"	"CEP19"	"OMIM:615703"	"Morbid obesity and spermatogenic failure"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-12 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78771"	"2025-01-17"
"GENCC_000101-HGNC_2771-OMIM_613912-HP_0000007-GENCC_100004"	"HGNC:2771"	"CFD"	"MONDO:0013487"	"recurrent Neisseria infections due to factor D deficiency"	"OMIM:613912"	"Complement factor D deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2771"	"CFD"	"OMIM:613912"	"Complement factor D deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-15 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92814"	"2025-01-17"
"GENCC_000101-HGNC_20311-OMIM_616579-HP_0000006-GENCC_100001"	"HGNC:20311"	"CHAMP1"	"MONDO:0014699"	"intellectual disability, autosomal dominant 40"	"OMIM:616579"	"Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20311"	"CHAMP1"	"OMIM:616579"	"Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-09-10 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71775"	"2025-01-17"
"GENCC_000101-HGNC_1915-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:1915"	"CHD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1915"	"CHD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-13 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11533"	"2025-01-17"
"GENCC_000101-HGNC_1918-OMIM_618205-HP_0000007-GENCC_100004"	"HGNC:1918"	"CHD3"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"OMIM:618205"	"Snijders Blok-Campeau syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1918"	"CHD3"	"OMIM:618205"	"Snijders Blok-Campeau syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-08 12:08:13"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42988"	"2025-01-17"
"GENCC_000101-HGNC_16171-OMIM_605387-HP_0000006-GENCC_100003"	"HGNC:16171"	"CHMP4B"	"MONDO:0011547"	"cataract 31 multiple types"	"OMIM:605387"	"Cataract 31, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16171"	"CHMP4B"	"OMIM:605387"	"Cataract 31, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-12 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76889"	"2025-01-17"
"GENCC_000101-HGNC_1957-OMIM_191800-HP_0000007-GENCC_100002"	"HGNC:1957"	"CHRNA3"	"MONDO:0008630"	"urinary bladder, atony of"	"OMIM:191800"	"Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1957"	"CHRNA3"	"OMIM:191800"	"Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-19 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15420"	"2025-01-17"
"GENCC_000101-HGNC_1961-OMIM_616313-HP_0000006-GENCC_100003"	"HGNC:1961"	"CHRNB1"	"MONDO:0014581"	"congenital myasthenic syndrome 2A"	"OMIM:616313"	"Myasthenic syndrome, congenital, 2A, slow-channel"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1961"	"CHRNB1"	"OMIM:616313"	"Myasthenic syndrome, congenital, 2A, slow-channel"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-27 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71663"	"2025-01-17"
"GENCC_000101-HGNC_1974-OMIM_613630-HP_0000007-GENCC_100003"	"HGNC:1974"	"CHUK"	"MONDO:0013334"	"cocoon syndrome"	"OMIM:613630"	"?Cocoon syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1974"	"CHUK"	"OMIM:613630"	"Cocoon syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-07 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17313"	"2025-01-17"
"GENCC_000101-HGNC_1974-OMIM_619339-HP_0000007-GENCC_100003"	"HGNC:1974"	"CHUK"	"MONDO:0859154"	"Bartsocas-Papas syndrome 2"	"OMIM:619339"	"?Popliteal pterygium syndrome, Bartsocas-Papas type 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1974"	"CHUK"	"OMIM:619339"	"Popliteal pterygium syndrome, Bartsocas-Papas type 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-07 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17313"	"2025-01-17"
"GENCC_000101-HGNC_2025-OMIM_166600-HP_0000006-GENCC_100002"	"HGNC:2025"	"CLCN7"	"MONDO:0008156"	"autosomal dominant osteopetrosis 2"	"OMIM:166600"	"Osteopetrosis, autosomal dominant 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2025"	"CLCN7"	"OMIM:166600"	"Osteopetrosis, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-02-13 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"8918"	"2025-01-17"
"GENCC_000101-HGNC_2025-OMIM_611490-HP_0000007-GENCC_100001"	"HGNC:2025"	"CLCN7"	"MONDO:0012676"	"autosomal recessive osteopetrosis 4"	"OMIM:611490"	"Osteopetrosis, autosomal recessive 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2025"	"CLCN7"	"OMIM:611490"	"Osteopetrosis, autosomal recessive 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-13 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92075"	"2025-01-17"
"GENCC_000101-HGNC_25635-MONDO_0008903-HP_0000006-GENCC_100004"	"HGNC:25635"	"CMTR2"	"MONDO:0008903"	"lung cancer"	"MONDO:0008903"	"lung cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25635"	"CMTR2"	"MONDO:0008903"	"lung cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-31 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42134"	"2025-01-17"
"GENCC_000101-HGNC_25635-MONDO_0005105-HP_0000006-GENCC_100004"	"HGNC:25635"	"CMTR2"	"MONDO:0005105"	"melanoma"	"MONDO:0005105"	"melanoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25635"	"CMTR2"	"MONDO:0005105"	"melanoma"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-31 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42135"	"2025-01-17"
"GENCC_000101-HGNC_2148-OMIM_613756-HP_0000007-GENCC_100004"	"HGNC:2148"	"CNGA1"	"MONDO:0013405"	"retinitis pigmentosa 49"	"OMIM:613756"	"Retinitis pigmentosa 49"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2148"	"CNGA1"	"OMIM:613756"	"Retinitis pigmentosa 49"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-21 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73141"	"2025-01-17"
"GENCC_000101-HGNC_2172-OMIM_615400-HP_0000007-GENCC_100004"	"HGNC:2172"	"CNTN2"	"MONDO:0014167"	"epilepsy, familial adult myoclonic, 5"	"OMIM:615400"	"Epilepsy, early-onset, 5, with or without developmental delay"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2172"	"CNTN2"	"OMIM:615400"	"Epilepsy, early-onset, 5, with or without developmental delay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-03 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78084"	"2025-01-17"
"GENCC_000101-HGNC_18619-OMIM_620546-HP_0000007-GENCC_100004"	"HGNC:18619"	"COG3"	"MONDO:0957820"	"congenital disorder of glycosylation, type IIbb"	"OMIM:620546"	"Congenital disorder of glycosylation, type IIbb"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18619"	"COG3"	"OMIM:620546"	"Congenital disorder of glycosylation, type IIbb"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-27 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42613"	"2025-01-17"
"GENCC_000101-HGNC_2218-OMIM_614284-HP_0000007-GENCC_100002"	"HGNC:2218"	"COL9A2"	"MONDO:0013666"	"Stickler syndrome, type 5"	"OMIM:614284"	"?Stickler syndrome, type V"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2218"	"COL9A2"	"OMIM:614284"	"Stickler syndrome, type V"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-10-09 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92916"	"2025-01-17"
"GENCC_000101-HGNC_2232-OMIM_617800-HP_0000007-GENCC_100004"	"HGNC:2232"	"COPB2"	"MONDO:0054716"	"microcephaly 19, primary, autosomal recessive"	"OMIM:617800"	"?Microcephaly 19, primary, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2232"	"COPB2"	"OMIM:617800"	"Microcephaly 19, primary, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-30 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11604"	"2025-01-17"
"GENCC_000101-HGNC_26970-OMIM_619054-HP_0000007-GENCC_100002"	"HGNC:26970"	"COX20"	"MONDO:0033645"	"mitochondrial complex 4 deficiency, nuclear type 11"	"OMIM:619054"	"Mitochondrial complex IV deficiency, nuclear type 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26970"	"COX20"	"OMIM:619054"	"Mitochondrial complex IV deficiency, nuclear type 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-05 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74712"	"2025-01-17"
"GENCC_000101-HGNC_2321-OMIM_618892-HP_0000007-GENCC_100004"	"HGNC:2321"	"CPOX"	"MONDO:0030048"	"harderoporphyria"	"OMIM:618892"	"Harderoporphyria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2321"	"CPOX"	"OMIM:618892"	"Harderoporphyria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-06 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"8180"	"2025-01-17"
"GENCC_000101-HGNC_26052-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:26052"	"INTS11"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26052"	"CPSF3L"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-15 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42205"	"2025-01-17"
"GENCC_000101-HGNC_14630-MONDO_0100038-HP_0000007-GENCC_100002"	"HGNC:14630"	"CRELD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14630"	"CRELD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-01-24 12:08:14"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42906"	"2025-01-17"
"GENCC_000101-HGNC_2383-OMIM_613829-HP_0000007-GENCC_100004"	"HGNC:2383"	"CRX"	"MONDO:0013449"	"Leber congenital amaurosis 7"	"OMIM:613829"	"Leber congenital amaurosis 7"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2383"	"CRX"	"OMIM:613829"	"Leber congenital amaurosis 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-05 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92923"	"2025-01-17"
"GENCC_000101-HGNC_2388-OMIM_604219-HP_0000006-GENCC_100002"	"HGNC:2388"	"CRYAA"	"MONDO:0011413"	"cataract 9 multiple types"	"OMIM:604219"	"Cataract 9, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2388"	"CRYAA"	"OMIM:604219"	"Cataract 9, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-10-02 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76896"	"2025-01-17"
"GENCC_000101-HGNC_2394-OMIM_600881-HP_0000006-GENCC_100001"	"HGNC:2394"	"CRYBA1"	"MONDO:0010948"	"cataract 10 multiple types"	"OMIM:600881"	"Cataract 10, multiple types"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2394"	"CRYBA1"	"OMIM:600881"	"Cataract 10, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-01-22 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"8110"	"2025-01-17"
"GENCC_000101-HGNC_2396-OMIM_610425-HP_0000007-GENCC_100004"	"HGNC:2396"	"CRYBA4"	"MONDO:0012489"	"cataract 23"	"OMIM:610425"	"Cataract 23"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2396"	"CRYBA4"	"OMIM:610425"	"Cataract 23"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-21 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"88764"	"2025-01-17"
"GENCC_000101-HGNC_2400-OMIM_609741-HP_0000007-GENCC_100003"	"HGNC:2400"	"CRYBB3"	"MONDO:0012336"	"cataract 22 multiple types"	"OMIM:609741"	"Cataract 22"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2400"	"CRYBB3"	"OMIM:609741"	"Cataract 22"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-12-10 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76802"	"2025-01-17"
"GENCC_000101-HGNC_2400-MONDO_0011060-HP_0000006-GENCC_100004"	"HGNC:2400"	"CRYBB3"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2400"	"CRYBB3"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-10 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42473"	"2025-01-17"
"GENCC_000101-HGNC_14026-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:14026"	"CSMD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14026"	"CSMD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-29 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42733"	"2025-01-17"
"GENCC_000101-HGNC_19291-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:19291"	"CSMD3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19291"	"CSMD3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-31 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42428"	"2025-01-17"
"GENCC_000101-HGNC_2460-OMIM_618732-HP_0000006-GENCC_100001"	"HGNC:2460"	"CSNK2B"	"MONDO:0032889"	"Poirier-Bienvenu neurodevelopmental syndrome"	"OMIM:618732"	"Poirier-Bienvenu neurodevelopmental syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2460"	"CSNK2B"	"OMIM:618732"	"Poirier-Bienvenu neurodevelopmental syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-10-17 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17054"	"2025-01-17"
"GENCC_000101-HGNC_2500-MONDO_0008881-HP_0000007-GENCC_100004"	"HGNC:2500"	"CCN2"	"MONDO:0008881"	"kyphomelic dysplasia"	"MONDO:0008881"	"kyphomelic dysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2500"	"CTGF"	"MONDO:0008881"	"kyphomelic dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-18 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42484"	"2025-01-17"
"GENCC_000101-HGNC_2509-OMIM_608970-HP_0000006-GENCC_100004"	"HGNC:2509"	"CTNNA1"	"MONDO:0012162"	"patterned macular dystrophy 2"	"OMIM:608970"	"Macular dystrophy, patterned, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2509"	"CTNNA1"	"OMIM:608970"	"Macular dystrophy, patterned, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-03 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"75898"	"2025-01-17"
"GENCC_000101-HGNC_2527-OMIM_148370-HP_0000006-GENCC_100004"	"HGNC:2527"	"CTSB"	"MONDO:0007854"	"keratolytic winter erythema"	"OMIM:148370"	"Keratolytic winter erythema"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2527"	"CTSB"	"OMIM:148370"	"Keratolytic winter erythema"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-15 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17304"	"2025-01-17"
"GENCC_000101-HGNC_17806-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:17806"	"ZFTRAF1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17806"	"CYHR1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-01 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42124"	"2025-01-17"
"GENCC_000101-HGNC_2597-MONDO_0800472-HP_0000007-GENCC_100001"	"HGNC:2597"	"CYP1B1"	"MONDO:0800472"	"CYP1B1-related glaucoma with or without anterior segment dysgenesis"	"MONDO:0800472"	"CYP1B1-related glaucoma with or without anterior segment dysgenesis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2597"	"CYP1B1"	"MONDO:0800472"	"CYP1B1-related glaucoma with or without anterior segment dysgenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-16 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"8434"	"2025-01-17"
"GENCC_000101-HGNC_26383-OMIM_620570-HP_0000007-GENCC_100003"	"HGNC:26383"	"DAW1"	"MONDO:0957922"	"ciliary dyskinesia, primary, 52"	"OMIM:620570"	"Ciliary dyskinesia, primary, 52"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26383"	"DAW1"	"OMIM:620570"	"Ciliary dyskinesia, primary, 52"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-31 12:08:15"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42790"	"2025-01-17"
"GENCC_000101-HGNC_15594-OMIM_620510-HP_0000007-GENCC_100003"	"HGNC:15594"	"DBR1"	"MONDO:0957786"	"xerosis and growth failure with immune and pulmonary dysfunction syndrome"	"OMIM:620510"	"Xerosis and growth failure with immune and pulmonary dysfunction syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15594"	"DBR1"	"OMIM:620510"	"Xerosis and growth failure with immune and pulmonary dysfunction syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-11 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42654"	"2025-01-17"
"GENCC_000101-HGNC_18141-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:18141"	"DCDC2"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18141"	"DCDC2"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-11-21 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"77669"	"2025-01-17"
"GENCC_000101-HGNC_2705-OMIM_610048-HP_0000006-GENCC_100003"	"HGNC:2705"	"DCN"	"MONDO:0012401"	"congenital stromal corneal dystrophy"	"OMIM:610048"	"Corneal dystrophy, congenital stromal"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2705"	"DCN"	"OMIM:610048"	"Corneal dystrophy, congenital stromal"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-21 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92836"	"2025-01-17"
"GENCC_000101-HGNC_28338-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:28338"	"DENND5B"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28338"	"DENND5B"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-14 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42008"	"2025-01-17"
"GENCC_000101-HGNC_28338-MONDO_0004933-HP_0000006-GENCC_100004"	"HGNC:28338"	"DENND5B"	"MONDO:0004933"	"hypoplastic left heart syndrome"	"MONDO:0004933"	"hypoplastic left heart syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28338"	"DENND5B"	"MONDO:0004933"	"hypoplastic left heart syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-03 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42009"	"2025-01-17"
"GENCC_000101-HGNC_2739-OMIM_618733-HP_0000006-GENCC_100003"	"HGNC:2739"	"DHX16"	"MONDO:0032890"	"neuromuscular disease and ocular or auditory anomalies with or without seizures"	"OMIM:618733"	"Neuromuscular disease and ocular or auditory anomalies with or without seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2739"	"DHX16"	"OMIM:618733"	"Neuromuscular disease and ocular or auditory anomalies with or without seizures"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-25 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15343"	"2025-01-17"
"GENCC_000101-HGNC_29150-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:29150"	"DIP2C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29150"	"DIP2C"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-22 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13810"	"2025-01-17"
"GENCC_000101-HGNC_2918-OMIM_183600-HP_0000006-GENCC_100003"	"HGNC:2918"	"DLX5"	"MONDO:0008464"	"split hand-foot malformation 1"	"OMIM:183600"	"Split-hand/foot malformation 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2918"	"DLX5"	"OMIM:183600"	"Split-hand/foot malformation 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-31 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"8340"	"2025-01-17"
"GENCC_000101-HGNC_2918-OMIM_220600-HP_0000007-GENCC_100004"	"HGNC:2918"	"DLX5"	"MONDO:0009080"	"split hand-foot malformation 1 with sensorineural hearing loss"	"OMIM:220600"	"?Split-hand/foot malformation 1 with sensorineural hearing loss"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2918"	"DLX5"	"OMIM:220600"	"Split-hand/foot malformation 1 with sensorineural hearing loss"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-31 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92899"	"2025-01-17"
"GENCC_000101-HGNC_2934-MONDO_0017576-HP_0000006-GENCC_100004"	"HGNC:2934"	"DMRT1"	"MONDO:0017576"	"46,XX disorder of sex development"	"MONDO:0017576"	"46,XX disorder of sex development"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2934"	"DMRT1"	"MONDO:0017576"	"46,XX disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-24 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"86966"	"2025-01-17"
"GENCC_000101-HGNC_2934-MONDO_0020040-HP_0000006-GENCC_100002"	"HGNC:2934"	"DMRT1"	"MONDO:0020040"	"46,XY disorder of sex development"	"MONDO:0020040"	"46,XY disorder of sex development"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2934"	"DMRT1"	"MONDO:0020040"	"46,XY disorder of sex development"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-09 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"86968"	"2025-01-17"
"GENCC_000101-HGNC_2949-MONDO_0005372-HP_0000007-GENCC_100004"	"HGNC:2949"	"DNAH3"	"MONDO:0005372"	"male infertility"	"MONDO:0005372"	"male infertility"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2949"	"DNAH3"	"MONDO:0005372"	"male infertility"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-21 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42466"	"2025-01-17"
"GENCC_000101-HGNC_14886-OMIM_620326-HP_0000007-GENCC_100003"	"HGNC:14886"	"DNAJB4"	"MONDO:0957224"	"congenital myopathy 21 with early respiratory failure"	"OMIM:620326"	"Congenital myopathy 21 with early respiratory failure"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14886"	"DNAJB4"	"OMIM:620326"	"Congenital myopathy 21 with early respiratory failure"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-19 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42207"	"2025-01-17"
"GENCC_000101-HGNC_14886-MONDO_0019952-HP_0000006-GENCC_100004"	"HGNC:14886"	"DNAJB4"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14886"	"DNAJB4"	"MONDO:0019952"	"congenital myopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-19 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42483"	"2025-01-17"
"GENCC_000101-HGNC_2972-OMIM_620352-HP_0000007-GENCC_100002"	"HGNC:2972"	"DNM1"	"MONDO:0957248"	"developmental and epileptic encephalopathy, 31B"	"OMIM:620352"	"Developmental and epileptic encephalopathy 31B, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2972"	"DNM1"	"OMIM:620352"	"Developmental and epileptic encephalopathy 31B, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-18 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13458"	"2025-01-17"
"GENCC_000101-HGNC_21194-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:21194"	"DOP1A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21194"	"DOPEY1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-20 12:08:16"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42198"	"2025-01-17"
"GENCC_000101-HGNC_24245-OMIM_620222-HP_0000007-GENCC_100004"	"HGNC:24245"	"DRC1"	"MONDO:0859364"	"spermatogenic failure 80"	"OMIM:620222"	"Spermatogenic failure 80"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24245"	"DRC1"	"OMIM:620222"	"Spermatogenic failure 80"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-11 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42749"	"2025-01-17"
"GENCC_000101-HGNC_3029-OMIM_620641-HP_0000007-GENCC_100003"	"HGNC:3029"	"DRG1"	"MONDO:0957990"	"Tan-Almurshedi syndrome"	"OMIM:620641"	"Tan-Almurshedi syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3029"	"DRG1"	"OMIM:620641"	"Tan-Almurshedi syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11170"	"2025-01-17"
"GENCC_000101-HGNC_14656-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:14656"	"DSCAML1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14656"	"DSCAML1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-11 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42020"	"2025-01-17"
"GENCC_000101-HGNC_3072-OMIM_615269-HP_0000006-GENCC_100004"	"HGNC:3072"	"DUSP6"	"MONDO:0014105"	"hypogonadotropic hypogonadism 19 with or without anosmia"	"OMIM:615269"	"Hypogonadotropic hypogonadism 19 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3072"	"DUSP6"	"OMIM:615269"	"Hypogonadotropic hypogonadism 19 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-22 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78532"	"2025-01-17"
"GENCC_000101-HGNC_21493-OMIM_615482-HP_0000007-GENCC_100001"	"HGNC:21493"	"DNAAF4"	"MONDO:0014203"	"primary ciliary dyskinesia 25"	"OMIM:615482"	"Ciliary dyskinesia, primary, 25"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21493"	"DYX1C1"	"OMIM:615482"	"Ciliary dyskinesia, primary, 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-25 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"86774"	"2025-01-17"
"GENCC_000101-HGNC_2895-OMIM_224900-HP_0000007-GENCC_100001"	"HGNC:2895"	"EDAR"	"MONDO:0009147"	"ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"	"OMIM:224900"	"Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2895"	"EDAR"	"OMIM:224900"	"Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-11 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61338"	"2025-01-17"
"GENCC_000101-HGNC_2895-OMIM_129490-HP_0000006-GENCC_100003"	"HGNC:2895"	"EDAR"	"MONDO:0007509"	"ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	"OMIM:129490"	"Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:2895"	"EDAR"	"OMIM:129490"	"Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-12 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61336"	"2025-01-17"
"GENCC_000101-HGNC_14341-OMIM_614941-HP_0000007-GENCC_100003"	"HGNC:14341"	"EDARADD"	"MONDO:0013983"	"ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"	"OMIM:614941"	"Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14341"	"EDARADD"	"OMIM:614941"	"Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-06 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6863"	"2025-01-17"
"GENCC_000101-HGNC_14341-OMIM_614940-HP_0000006-GENCC_100003"	"HGNC:14341"	"EDARADD"	"MONDO:0013982"	"ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"OMIM:614940"	"Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14341"	"EDARADD"	"OMIM:614940"	"Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-06 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78063"	"2025-01-17"
"GENCC_000101-HGNC_3178-OMIM_613265-HP_0000007-GENCC_100003"	"HGNC:3178"	"EDN3"	"MONDO:0013201"	"Waardenburg syndrome type 4B"	"OMIM:613265"	"Waardenburg syndrome, type 4B"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3178"	"EDN3"	"OMIM:613265"	"Waardenburg syndrome, type 4B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-06 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92273"	"2025-01-17"
"GENCC_000101-HGNC_3218-OMIM_620780-HP_0000007-GENCC_100003"	"HGNC:3218"	"EFEMP1"	"MONDO:0958335"	"cutis laxa, autosomal recessive, type 1d"	"OMIM:620780"	"Cutis laxa, autosomal recessive, type ID"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3218"	"EFEMP1"	"OMIM:620780"	"Cutis laxa, autosomal recessive, type ID"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-12-11 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14224"	"2025-01-17"
"GENCC_000101-HGNC_3218-MONDO_0016175-HP_0000006-GENCC_100004"	"HGNC:3218"	"EFEMP1"	"MONDO:0016175"	"cutis laxa"	"MONDO:0016175"	"cutis laxa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3218"	"EFEMP1"	"MONDO:0016175"	"cutis laxa"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-11 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42416"	"2025-01-17"
"GENCC_000101-HGNC_3219-MONDO_0005396-HP_0000006-GENCC_100004"	"HGNC:3219"	"EFEMP2"	"MONDO:0005396"	"thoracic aortic aneurysm"	"MONDO:0005396"	"thoracic aortic aneurysm"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3219"	"EFEMP2"	"MONDO:0005396"	"thoracic aortic aneurysm"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-17 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42964"	"2025-01-17"
"GENCC_000101-HGNC_3327-MONDO_0019625-HP_0000006-GENCC_100004"	"HGNC:3327"	"ELN"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3327"	"ELN"	"MONDO:0019625"	"familial thoracic aortic aneurysm and aortic dissection"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-10 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13303"	"2025-01-17"
"GENCC_000101-HGNC_3377-OMIM_611804-HP_0032113-GENCC_100001"	"HGNC:3377"	"EPB41"	"MONDO:0012731"	"elliptocytosis 1"	"OMIM:611804"	"Elliptocytosis-1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3377"	"EPB41"	"OMIM:611804"	"Elliptocytosis-1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-07 12:08:17"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92269"	"2025-01-17"
"GENCC_000101-HGNC_3386-OMIM_116600-HP_0000006-GENCC_100003"	"HGNC:3386"	"EPHA2"	"MONDO:0007288"	"cataract 6 multiple types"	"OMIM:116600"	"Cataract 6, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3386"	"EPHA2"	"OMIM:116600"	"Cataract 6, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-26 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78947"	"2025-01-17"
"GENCC_000101-HGNC_3386-MONDO_0011060-HP_0000007-GENCC_100003"	"HGNC:3386"	"EPHA2"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3386"	"EPHA2"	"MONDO:0011060"	"early-onset non-syndromic cataract"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-25 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42043"	"2025-01-17"
"GENCC_000101-HGNC_3388-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:3388"	"EPHA4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3388"	"EPHA4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-19 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42081"	"2025-01-17"
"GENCC_000101-HGNC_3395-MONDO_0700080-HP_0000006-GENCC_100001"	"HGNC:3395"	"EPHB4"	"MONDO:0700080"	"EPHB4-associated vascular malformation spectrum"	"MONDO:0700080"	"EPHB4-associated vascular malformation spectrum"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3395"	"EPHB4"	"MONDO:0700080"	"EPHB4-associated vascular malformation spectrum"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-24 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11945"	"2025-01-17"
"GENCC_000101-HGNC_3415-OMIM_617907-HP_0000006-GENCC_100004"	"HGNC:3415"	"EPO"	"MONDO:0033483"	"erythrocytosis, familial, 5"	"OMIM:617907"	"Erythrocytosis, familial, 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3415"	"EPO"	"OMIM:617907"	"Erythrocytosis, familial, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-11 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42740"	"2025-01-17"
"GENCC_000101-HGNC_3415-OMIM_617911-HP_0000007-GENCC_100004"	"HGNC:3415"	"EPO"	"MONDO:0060662"	"Diamond-Blackfan anemia-like"	"OMIM:617911"	"?Diamond-Blackfan anemia-like"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3415"	"EPO"	"OMIM:617911"	"Diamond-Blackfan anemia-like"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-11 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42747"	"2025-01-17"
"GENCC_000101-HGNC_3446-OMIM_620602-HP_0000006-GENCC_100004"	"HGNC:3446"	"ERG"	"MONDO:0957954"	"lymphatic malformation 14"	"OMIM:620602"	"Lymphatic malformation 14"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3446"	"ERG"	"OMIM:620602"	"Lymphatic malformation 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-15 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42088"	"2025-01-17"
"GENCC_000101-HGNC_3473-OMIM_608565-HP_0000007-GENCC_100002"	"HGNC:3473"	"ESRRB"	"MONDO:0012060"	"autosomal recessive nonsyndromic hearing loss 35"	"OMIM:608565"	"Deafness, autosomal recessive 35"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3473"	"ESRRB"	"OMIM:608565"	"Deafness, autosomal recessive 35"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-12 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42744"	"2025-01-17"
"GENCC_000101-HGNC_18189-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:18189"	"EXOSC4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18189"	"EXOSC4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-03 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42404"	"2025-01-17"
"GENCC_000101-HGNC_17035-OMIM_616081-HP_0000007-GENCC_100004"	"HGNC:17035"	"EXOSC8"	"MONDO:0014485"	"pontocerebellar hypoplasia, type 1C"	"OMIM:616081"	"Pontocerebellar hypoplasia, type 1C"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17035"	"EXOSC8"	"OMIM:616081"	"Pontocerebellar hypoplasia, type 1C"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-22 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78325"	"2025-01-17"
"GENCC_000101-HGNC_21555-OMIM_602772-HP_0000007-GENCC_100001"	"HGNC:21555"	"EYS"	"MONDO:0011272"	"retinitis pigmentosa 25"	"OMIM:602772"	"Retinitis pigmentosa 25"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21555"	"EYS"	"OMIM:602772"	"Retinitis pigmentosa 25"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-07-10 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67715"	"2025-01-17"
"GENCC_000101-HGNC_3544-OMIM_227500-HP_0000007-GENCC_100001"	"HGNC:3544"	"F7"	"MONDO:0009211"	"congenital factor VII deficiency"	"OMIM:227500"	"Factor VII deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3544"	"F7"	"OMIM:227500"	"Factor VII deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-01-18 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63301"	"2025-01-17"
"GENCC_000101-HGNC_30452-OMIM_618219-HP_0000007-GENCC_100004"	"HGNC:30452"	"CIBAR1"	"MONDO:0032603"	"polydactyly, postaxial, type A9"	"OMIM:618219"	"?Polydactyly, postaxial, type A9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30452"	"FAM92A1"	"OMIM:618219"	"Polydactyly, postaxial, type A9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-04 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42177"	"2025-01-17"
"GENCC_000101-HGNC_3584-MONDO_0008315-HP_0000006-GENCC_100004"	"HGNC:3584"	"FANCC"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3584"	"FANCC"	"MONDO:0008315"	"Prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-12-07 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13015"	"2025-01-17"
"GENCC_000101-HGNC_3592-OMIM_619013-HP_0000007-GENCC_100004"	"HGNC:3592"	"FARSA"	"MONDO:0100220"	"Rajab interstitial lung disease with brain calcifications 2"	"OMIM:619013"	"?Rajab interstitial lung disease with brain calcifications 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3592"	"FARSA"	"OMIM:619013"	"Rajab interstitial lung disease with brain calcifications 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-05 12:08:18"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15988"	"2025-01-17"
"GENCC_000101-HGNC_29308-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:29308"	"FBRSL1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29308"	"FBRSL1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-08 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42132"	"2025-01-17"
"GENCC_000101-HGNC_16731-MONDO_0005021-HP_0000007-GENCC_100004"	"HGNC:16731"	"FBXO32"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16731"	"FBXO32"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-03 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73967"	"2025-01-17"
"GENCC_000101-HGNC_3631-OMIM_616631-HP_0000006-GENCC_100003"	"HGNC:3631"	"FDPS"	"MONDO:0014713"	"porokeratosis 9, multiple types"	"OMIM:616631"	"Porokeratosis 9, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3631"	"FDPS"	"OMIM:616631"	"Porokeratosis 9, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-21 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73935"	"2025-01-17"
"GENCC_000101-HGNC_3649-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:3649"	"FEM1B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3649"	"FEM1B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-02 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42095"	"2025-01-17"
"GENCC_000101-HGNC_13506-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:13506"	"FEZF2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13506"	"FEZF2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-15 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"89087"	"2025-01-17"
"GENCC_000101-HGNC_3666-OMIM_620193-HP_0000006-GENCC_100001"	"HGNC:3666"	"FGF10"	"MONDO:0859578"	"lacrimoauriculodentodigital syndrome 3"	"OMIM:620193"	"LADD syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3666"	"FGF10"	"OMIM:620193"	"LADD syndrome 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-05-20 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63543"	"2025-01-17"
"GENCC_000101-HGNC_3666-MONDO_0000119-HP_0000006-GENCC_100004"	"HGNC:3666"	"FGF10"	"MONDO:0000119"	"congenital heart defects, multiple types"	"MONDO:0000119"	"congenital heart defects, multiple types"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3666"	"FGF10"	"MONDO:0000119"	"congenital heart defects, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-20 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42785"	"2025-01-17"
"GENCC_000101-HGNC_3666-MONDO_0015469-HP_0000006-GENCC_100004"	"HGNC:3666"	"FGF10"	"MONDO:0015469"	"craniosynostosis"	"MONDO:0015469"	"craniosynostosis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3666"	"FGF10"	"MONDO:0015469"	"craniosynostosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-20 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42762"	"2025-01-17"
"GENCC_000101-HGNC_3689-OMIM_149730-HP_0000006-GENCC_100003"	"HGNC:3689"	"FGFR2"	"MONDO:0100302"	"LADD syndrome 1"	"OMIM:149730"	"LADD syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3689"	"FGFR2"	"OMIM:149730"	"LADD syndrome 1	"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-22 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42196"	"2025-01-17"
"GENCC_000101-HGNC_18416-OMIM_620911-HP_0000007-GENCC_100004"	"HGNC:18416"	"FICD"	"MONDO:0975746"	"spastic paraplegia 92, autosomal recessive"	"OMIM:620911"	"Spastic paraplegia 92, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18416"	"FICD"	"OMIM:620911"	"Spastic paraplegia 92, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-05 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42478"	"2025-01-17"
"GENCC_000101-HGNC_3750-OMIM_620635-HP_0000007-GENCC_100004"	"HGNC:3750"	"FLII"	"MONDO:0957984"	"cardiomyopathy, dilated, 2j"	"OMIM:620635"	"Cardiomyopathy, dilated, 2J"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3750"	"FLII"	"OMIM:620635"	"Cardiomyopathy, dilated, 2J"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-12-08 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42650"	"2025-01-17"
"GENCC_000101-HGNC_3817-OMIM_620576-HP_0000006-GENCC_100004"	"HGNC:3817"	"FOXL1"	"MONDO:0957928"	"otosclerosis 11"	"OMIM:620576"	"Otosclerosis 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3817"	"FOXL1"	"OMIM:620576"	"Otosclerosis 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-30 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42763"	"2025-01-17"
"GENCC_000101-HGNC_20842-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:20842"	"FOXP4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20842"	"FOXP4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-22 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14596"	"2025-01-17"
"GENCC_000101-HGNC_29127-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:29127"	"FRYL"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29127"	"FRYL"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-24 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42044"	"2025-01-17"
"GENCC_000101-HGNC_3964-OMIM_229070-HP_0000007-GENCC_100003"	"HGNC:3964"	"FSHB"	"MONDO:0009239"	"hypogonadotropic hypogonadism 24 without anosmia"	"OMIM:229070"	"Hypogonadotropic hypogonadism 24 without anosmia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3964"	"FSHB"	"OMIM:229070"	"Hypogonadotropic hypogonadism 24 without anosmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-01-09 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42981"	"2025-01-17"
"GENCC_000101-HGNC_3976-OMIM_620669-HP_0000006-GENCC_100003"	"HGNC:3976"	"FTH1"	"MONDO:0958012"	"neurodegeneration with brain iron accumulation 9"	"OMIM:620669"	"Neurodegeneration with brain iron accumulation 9"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3976"	"FTH1"	"OMIM:620669"	"Neurodegeneration with brain iron accumulation 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-29 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42644"	"2025-01-17"
"GENCC_000101-HGNC_3976-OMIM_615517-HP_0000006-GENCC_100004"	"HGNC:3976"	"FTH1"	"MONDO:0014225"	"hemochromatosis type 5"	"OMIM:615517"	"?Hemochromatosis, type 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3976"	"FTH1"	"OMIM:615517"	"Hemochromatosis, type 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-29 12:08:19"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42645"	"2025-01-17"
"GENCC_000101-HGNC_4042-OMIM_133780-HP_0032113-GENCC_100001"	"HGNC:4042"	"FZD4"	"MONDO:0007589"	"exudative vitreoretinopathy 1"	"OMIM:133780"	"Exudative vitreoretinopathy 1"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4042"	"FZD4"	"OMIM:133780"	"Exudative vitreoretinopathy 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-10-04 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64062"	"2025-01-17"
"GENCC_000101-HGNC_4078-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:4078"	"GABRA4"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4078"	"GABRA4"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-17 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13707"	"2025-01-17"
"GENCC_000101-HGNC_4084-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:4084"	"GABRD"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4084"	"GABRD"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-01-24 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42999"	"2025-01-17"
"GENCC_000101-HGNC_4167-OMIM_620877-HP_0000007-GENCC_100004"	"HGNC:4167"	"GAS2"	"MONDO:0971152"	"hearing loss, autosomal recessive 125"	"OMIM:620877"	"?Deafness, autosomal recessive 125"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4167"	"GAS2"	"OMIM:620877"	"Deafness, autosomal recessive 125"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-06 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42420"	"2025-01-17"
"GENCC_000101-HGNC_4167-MONDO_0005365-HP_0000006-GENCC_100004"	"HGNC:4167"	"GAS2"	"MONDO:0005365"	"hearing loss disorder"	"MONDO:0005365"	"hearing loss disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4167"	"GAS2"	"MONDO:0005365"	"hearing loss disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-06 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42427"	"2025-01-17"
"GENCC_000101-HGNC_15802-OMIM_617912-HP_0000006-GENCC_100004"	"HGNC:15802"	"GATA5"	"MONDO:0060663"	"congenital heart defects, multiple types, 5"	"OMIM:617912"	"Congenital heart defects, multiple types, 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15802"	"GATA5"	"OMIM:617912"	"Congenital heart defects, multiple types, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-17 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"89341"	"2025-01-17"
"GENCC_000101-HGNC_4177-OMIM_168600-HP_0000006-GENCC_100002"	"HGNC:4177"	"GBA1"	"MONDO:0008199"	"late-onset Parkinson disease"	"OMIM:168600"	"{Parkinson disease, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4177"	"GBA"	"OMIM:168600"	"Parkinson disease, late-onset, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-06-24 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42779"	"2025-01-17"
"GENCC_000101-HGNC_4192-OMIM_619290-HP_0000007-GENCC_100003"	"HGNC:4192"	"GCGR"	"MONDO:0018582"	"GCGR-related hyperglucagonemia"	"OMIM:619290"	"Mahvash disease"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4192"	"GCGR"	"OMIM:619290"	"Mahvash disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"80298"	"2025-01-17"
"GENCC_000101-HGNC_26424-MONDO_0005021-HP_0000007-GENCC_100003"	"HGNC:26424"	"GCOM1"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26424"	"GCOM1"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-19 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13957"	"2025-01-17"
"GENCC_000101-HGNC_4208-OMIM_620423-HP_0000007-GENCC_100003"	"HGNC:4208"	"GCSH"	"MONDO:0957382"	"multiple mitochondrial dysfunctions syndrome 7"	"OMIM:620423"	"Multiple mitochondrial dysfunctions syndrome 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4208"	"GCSH"	"OMIM:620423"	"Multiple mitochondrial dysfunctions syndrome 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-05 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63155"	"2025-01-17"
"GENCC_000101-HGNC_4220-OMIM_615298-HP_0000006-GENCC_100003"	"HGNC:4220"	"GDF5"	"MONDO:0014125"	"symphalangism, proximal, 1B"	"OMIM:615298"	"Symphalangism, proximal, 1B"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4220"	"GDF5"	"OMIM:615298"	"Symphalangism, proximal, 1B"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-07 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76886"	"2025-01-17"
"GENCC_000101-HGNC_9126-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:9126"	"GIGYF1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9126"	"GIGYF1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-05-14 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76674"	"2025-01-17"
"GENCC_000101-HGNC_25851-MONDO_0016817-HP_0000007-GENCC_100004"	"HGNC:25851"	"GINS3"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25851"	"GINS3"	"MONDO:0016817"	"Meier-Gorlin syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-07 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42795"	"2025-01-17"
"GENCC_000101-HGNC_4274-OMIM_257850-HP_0000007-GENCC_100003"	"HGNC:4274"	"GJA1"	"MONDO:0009768"	"oculodentodigital dysplasia, autosomal recessive"	"OMIM:257850"	"Oculodentodigital dysplasia, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4274"	"GJA1"	"OMIM:257850"	"Oculodentodigital dysplasia, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-14 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15140"	"2025-01-17"
"GENCC_000101-HGNC_4274-OMIM_164200-HP_0000006-GENCC_100001"	"HGNC:4274"	"GJA1"	"MONDO:0008111"	"oculodentodigital dysplasia"	"OMIM:164200"	"Oculodentodigital dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4274"	"GJA1"	"OMIM:164200"	"Oculodentodigital dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2020-04-02 00:00:00"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6134"	"2025-01-17"
"GENCC_000101-HGNC_4281-OMIM_116200-HP_0000007-GENCC_100003"	"HGNC:4281"	"GJA8"	"MONDO:0007285"	"cataract 1 multiple types"	"OMIM:116200"	"Cataract 1, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4281"	"GJA8"	"OMIM:116200"	"Cataract 1, multiple types"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6382"	"2025-01-17"
"GENCC_000101-HGNC_4285-OMIM_133200-HP_0000007-GENCC_100004"	"HGNC:4285"	"GJB3"	"MONDO:0033010"	"erythrokeratodermia variabilis et progressiva 1"	"OMIM:133200"	"Erythrokeratodermia variabilis et progressiva 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4285"	"GJB3"	"OMIM:133200"	"Erythrokeratodermia variabilis et progressiva 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-13 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"6300"	"2025-01-17"
"GENCC_000101-HGNC_4285-OMIM_220290-HP_0000007-GENCC_100004"	"HGNC:4285"	"GJB3"	"MONDO:0009076"	"autosomal recessive nonsyndromic hearing loss 1A"	"OMIM:220290"	"Deafness, digenic GJB2/GJB6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4285"	"GJB3"	"OMIM:220290"	"Deafness, digenic, GJB2/GJB3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-14 12:08:20"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"80603"	"2025-01-17"
"GENCC_000101-HGNC_4285-OMIM_133200-HP_0000006-GENCC_100003"	"HGNC:4285"	"GJB3"	"MONDO:0033010"	"erythrokeratodermia variabilis et progressiva 1"	"OMIM:133200"	"Erythrokeratodermia variabilis et progressiva 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4285"	"GJB3"	"OMIM:133200"	"Erythrokeratodermia variabilis et progressiva 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-13 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63198"	"2025-01-17"
"GENCC_000101-HGNC_4341-OMIM_620806-HP_0000006-GENCC_100002"	"HGNC:4341"	"GLUL"	"MONDO:0970945"	"developmental and epileptic encephalopathy 116"	"OMIM:620806"	"Developmental and epileptic encephalopathy 116"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4341"	"GLUL"	"OMIM:620806"	"Developmental and epileptic encephalopathy 116"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-05-31 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42799"	"2025-01-17"
"GENCC_000101-HGNC_4390-OMIM_185300-HP_0000006-GENCC_100002"	"HGNC:4390"	"GNAQ"	"MONDO:0008501"	"Sturge-Weber syndrome"	"OMIM:185300"	"Sturge-Weber syndrome, somatic, mosaic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4390"	"GNAQ"	"OMIM:185300"	"Sturge-Weber syndrome, somatic, mosaic"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-19 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78405"	"2025-01-17"
"GENCC_000101-HGNC_4419-MONDO_0018555-HP_0000006-GENCC_100004"	"HGNC:4419"	"GNRH1"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4419"	"GNRH1"	"MONDO:0018555"	"hypogonadotropic hypogonadism"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-16 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63758"	"2025-01-17"
"GENCC_000101-HGNC_4419-OMIM_614841-HP_0000007-GENCC_100002"	"HGNC:4419"	"GNRH1"	"MONDO:0013914"	"hypogonadotropic hypogonadism 12 with or without anosmia"	"OMIM:614841"	"?Hypogonadotropic hypogonadism 12 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4419"	"GNRH1"	"OMIM:614841"	"Hypogonadotropic hypogonadism 12 with or without anosmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-16 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42756"	"2025-01-17"
"GENCC_000101-HGNC_4421-OMIM_146110-HP_0000006-GENCC_100004"	"HGNC:4421"	"GNRHR"	"MONDO:0007794"	"hypogonadotropic hypogonadism 7 with or without anosmia"	"OMIM:146110"	"Hypogonadotropic hypogonadism 7 without anosmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4421"	"GNRHR"	"OMIM:146110"	"Hypogonadotropic hypogonadism 7 without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-12 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42024"	"2025-01-17"
"GENCC_000101-HGNC_4439-OMIM_231200-HP_0000007-GENCC_100001"	"HGNC:4439"	"GP1BA"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"OMIM:231200"	"Bernard-Soulier syndrome, type B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4439"	"GP1BA"	"OMIM:231200"	"Bernard-Soulier syndrome, type A1 (recessive)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-01 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9271"	"2025-01-17"
"GENCC_000101-HGNC_4439-OMIM_177820-HP_0000006-GENCC_100003"	"HGNC:4439"	"GP1BA"	"MONDO:0008332"	"platelet-type von Willebrand disease"	"OMIM:177820"	"von Willebrand disease, platelet-type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4439"	"GP1BA"	"OMIM:177820"	"von Willebrand disease, platelet-type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-01 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63740"	"2025-01-17"
"GENCC_000101-HGNC_4440-OMIM_231200-HP_0000007-GENCC_100001"	"HGNC:4440"	"GP1BB"	"MONDO:0009276"	"Bernard-Soulier syndrome"	"OMIM:231200"	"Bernard-Soulier syndrome, type B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4440"	"GP1BB"	"OMIM:231200"	"Bernard-Soulier syndrome, type B"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-07-23 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42755"	"2025-01-17"
"GENCC_000101-HGNC_15465-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:15465"	"GPHN"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15465"	"GPHN"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-12-21 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42639"	"2025-01-17"
"GENCC_000101-HGNC_20844-OMIM_620551-HP_0000007-GENCC_100003"	"HGNC:20844"	"GPR156"	"MONDO:0957825"	"hearing loss, autosomal recessive 121"	"OMIM:620551"	"Deafness, autosomal recessive 121"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20844"	"GPR156"	"OMIM:620551"	"Deafness, autosomal recessive 121"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42648"	"2025-01-17"
"GENCC_000101-HGNC_4586-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:4586"	"GRIN2B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4586"	"GRIN2B"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-05-02 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63775"	"2025-01-17"
"GENCC_000101-HGNC_289-MONDO_0018770-HP_0000007-GENCC_100003"	"HGNC:289"	"GRK2"	"MONDO:0018770"	"Jeune syndrome"	"MONDO:0018770"	"Jeune syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:289"	"GRK2"	"MONDO:0018770"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-02 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42180"	"2025-01-17"
"GENCC_000101-HGNC_4668-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:4668"	"GTF3C5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4668"	"GTF3C5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-14 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42729"	"2025-01-17"
"GENCC_000101-HGNC_4847-OMIM_161400-HP_0000006-GENCC_100004"	"HGNC:4847"	"HCRT"	"MONDO:0008062"	"narcolepsy 1"	"OMIM:161400"	"?Narcolepsy 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4847"	"HCRT"	"OMIM:161400"	"Narcolepsy 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-24 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63057"	"2025-01-17"
"GENCC_000101-HGNC_4853-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:4853"	"HDAC2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4853"	"HDAC2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-30 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11994"	"2025-01-17"
"GENCC_000101-HGNC_4854-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:4854"	"HDAC3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4854"	"HDAC3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-15 12:08:21"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42012"	"2025-01-17"
"GENCC_000101-HGNC_14065-OMIM_620457-HP_0000006-GENCC_100004"	"HGNC:14065"	"HDAC9"	"MONDO:0957543"	"auriculocondylar syndrome 4"	"OMIM:620457"	"?Auriculocondylar syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14065"	"HDAC9"	"OMIM:620457"	"Auriculocondylar syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-26 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42491"	"2025-01-17"
"GENCC_000101-HGNC_4907-MONDO_0000688-HP_0000007-GENCC_100004"	"HGNC:4907"	"HIBADH"	"MONDO:0000688"	"inborn organic aciduria"	"MONDO:0000688"	"inborn organic aciduria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4907"	"HIBADH"	"MONDO:0000688"	"inborn organic aciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-22 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42498"	"2025-01-17"
"GENCC_000101-HGNC_5037-OMIM_609115-HP_0000006-GENCC_100003"	"HGNC:5037"	"HNRNPDL"	"MONDO:0012193"	"autosomal dominant limb-girdle muscular dystrophy type 1G"	"OMIM:609115"	"Muscular dystrophy, limb-girdle, autosomal dominant 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5037"	"HNRNPDL"	"OMIM:609115"	"Muscular dystrophy, limb-girdle, autosomal dominant 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-20 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74732"	"2025-01-17"
"GENCC_000101-HGNC_5045-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:5045"	"HNRNPL"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5045"	"HNRNPL"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-23 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14895"	"2025-01-17"
"GENCC_000101-HGNC_25451-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:25451"	"HNRNPUL2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25451"	"HNRNPUL2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-02-23 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42943"	"2025-01-17"
"GENCC_000101-HGNC_5103-OMIM_612290-HP_0000007-GENCC_100004"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"?Microtia, hearing impairment, and cleft palate (AR)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"Microtia, hearing impairment, and cleft palate (AR)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-27 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78130"	"2025-01-17"
"GENCC_000101-HGNC_5103-OMIM_612290-HP_0000006-GENCC_100003"	"HGNC:5103"	"HOXA2"	"MONDO:0012854"	"bilateral microtia-deafness-cleft palate syndrome"	"OMIM:612290"	"?Microtia, hearing impairment, and cleft palate (AR)"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5103"	"HOXA2"	"OMIM:612290"	"Microtia with or without hearing impairment (AD)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-27 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78137"	"2025-01-17"
"GENCC_000101-HGNC_5125-OMIM_614931-HP_0000007-GENCC_100002"	"HGNC:5125"	"HOXC13"	"MONDO:0013976"	"ectodermal dysplasia 9, hair/nail type"	"OMIM:614931"	"Ectodermal dysplasia 9, hair/nail type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5125"	"HOXC13"	"OMIM:614931"	"Ectodermal dysplasia 9, hair/nail type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-27 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63085"	"2025-01-17"
"GENCC_000101-HGNC_5154-OMIM_119900-HP_0000007-GENCC_100004"	"HGNC:5154"	"HPGD"	"MONDO:0007343"	"isolated congenital digital clubbing"	"OMIM:119900"	"?Digital clubbing, isolated congenital"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5154"	"HPGD"	"OMIM:119900"	"Digital clubbing, isolated congenital"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-05 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63022"	"2025-01-17"
"GENCC_000101-HGNC_5154-OMIM_259100-HP_0000007-GENCC_100002"	"HGNC:5154"	"HPGD"	"MONDO:0024546"	"hypertrophic osteoarthropathy, primary, autosomal recessive, 1"	"OMIM:259100"	"Cranioosteoarthropathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5154"	"HPGD"	"OMIM:259100"	"Cranioosteoarthropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-06 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63028"	"2025-01-17"
"GENCC_000101-HGNC_5261-OMIM_605280-HP_0000006-GENCC_100003"	"HGNC:5261"	"HSPD1"	"MONDO:0011532"	"hereditary spastic paraplegia 13"	"OMIM:605280"	"Spastic paraplegia 13, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5261"	"HSPD1"	"OMIM:605280"	"Spastic paraplegia 13, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-18 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63940"	"2025-01-17"
"GENCC_000101-HGNC_5261-OMIM_612233-HP_0000007-GENCC_100004"	"HGNC:5261"	"HSPD1"	"MONDO:0012824"	"hypomyelinating leukodystrophy 4"	"OMIM:612233"	"Leukodystrophy, hypomyelinating, 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5261"	"HSPD1"	"OMIM:612233"	"Leukodystrophy, hypomyelinating, 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-12-14 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63947"	"2025-01-17"
"GENCC_000101-HGNC_5321-MONDO_0000358-HP_0000007-GENCC_100003"	"HGNC:5321"	"HYAL2"	"MONDO:0000358"	"orofacial cleft"	"MONDO:0000358"	"orofacial cleft"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5321"	"HYAL2"	"MONDO:0000358"	"orofacial cleft"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-27 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17199"	"2025-01-17"
"GENCC_000101-HGNC_17087-OMIM_620825-HP_0000007-GENCC_100004"	"HGNC:17087"	"ICOSLG"	"MONDO:0970993"	"immunodeficiency 119"	"OMIM:620825"	"?Immunodeficiency 119"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17087"	"ICOSLG"	"OMIM:620825"	"Immunodeficiency 119"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-06 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42429"	"2025-01-17"
"GENCC_000101-HGNC_18873-OMIM_619773-HP_0000007-GENCC_100004"	"HGNC:18873"	"IFIH1"	"MONDO:0030692"	"immunodeficiency 95"	"OMIM:619773"	"Immunodeficiency 95"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18873"	"IFIH1"	"OMIM:619773"	"Immunodeficiency 95"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-18 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11664"	"2025-01-17"
"GENCC_000101-HGNC_5438-OMIM_618963-HP_0000007-GENCC_100004"	"HGNC:5438"	"IFNG"	"MONDO:0033541"	"immunodeficiency 69"	"OMIM:618963"	"?Immunodeficiency 69, mycobacteriosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5438"	"IFNG"	"OMIM:618963"	"Immunodeficiency 69, mycobacteriosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-19 12:08:22"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42751"	"2025-01-17"
"GENCC_000101-HGNC_5464-OMIM_608747-HP_0000006-GENCC_100004"	"HGNC:5464"	"IGF1"	"MONDO:0012110"	"growth delay due to insulin-like growth factor type 1 deficiency"	"OMIM:608747"	"Insulin-like growth factor I deficiency"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5464"	"IGF1"	"OMIM:608747"	"Insulin-like growth factor I deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-13 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9000"	"2025-01-17"
"GENCC_000101-HGNC_5956-OMIM_112500-HP_0000006-GENCC_100001"	"HGNC:5956"	"IHH"	"MONDO:0007215"	"brachydactyly type A1"	"OMIM:112500"	"Brachydactyly, type A1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5956"	"IHH"	"OMIM:112500"	"Brachydactyly, type A1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-06-26 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63988"	"2025-01-17"
"GENCC_000101-HGNC_5956-OMIM_607778-HP_0000007-GENCC_100004"	"HGNC:5956"	"IHH"	"MONDO:0011907"	"acrocapitofemoral dysplasia"	"OMIM:607778"	"Acrocapitofemoral dysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5956"	"IHH"	"OMIM:607778"	"Acrocapitofemoral dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-26 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63986"	"2025-01-17"
"GENCC_000101-HGNC_6019-OMIM_618944-HP_0000007-GENCC_100003"	"HGNC:6019"	"IL6R"	"MONDO:0030069"	"hyper-IgE recurrent infection syndrome 5, autosomal recessive"	"OMIM:618944"	"Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6019"	"IL6R"	"OMIM:618944"	"Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-12 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42766"	"2025-01-17"
"GENCC_000101-HGNC_26019-OMIM_614078-HP_0000007-GENCC_100002"	"HGNC:26019"	"BPNT2"	"MONDO:0013561"	"chondrodysplasia with joint dislocations, gPAPP type"	"OMIM:614078"	"Chondrodysplasia with joint dislocations, GPAPP type"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26019"	"IMPAD1"	"OMIM:614078"	"Chondrodysplasia with joint dislocations, GPAPP type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-20 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"12554"	"2025-01-17"
"GENCC_000101-HGNC_6081-OMIM_618858-HP_0000007-GENCC_100003"	"HGNC:6081"	"INS"	"MONDO:0030089"	"diabetes mellitus, permanent neonatal 4"	"OMIM:618858"	"Diabetes mellitus, permanent neonatal 4"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6081"	"INS"	"OMIM:618858"	"Diabetes mellitus, permanent neonatal 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-01-09 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9787"	"2025-01-17"
"GENCC_000101-HGNC_6116-OMIM_620668-HP_0000007-GENCC_100004"	"HGNC:6116"	"IRF1"	"MONDO:0958011"	"immunodeficiency 117"	"OMIM:620668"	"Immunodeficiency 117, mycobacteriosis, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6116"	"IRF1"	"OMIM:620668"	"Immunodeficiency 117, mycobacteriosis, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-28 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42956"	"2025-01-17"
"GENCC_000101-HGNC_5358-OMIM_226990-HP_0000007-GENCC_100003"	"HGNC:5358"	"IRF8"	"MONDO:0009194"	"immunodeficiency 32B"	"OMIM:226990"	"Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:5358"	"IRF8"	"OMIM:226990"	"Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-11 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76229"	"2025-01-17"
"GENCC_000101-HGNC_6144-OMIM_191830-HP_0000007-GENCC_100003"	"HGNC:6144"	"ITGA8"	"MONDO:0024519"	"renal hypodysplasia/aplasia 1"	"OMIM:191830"	"Renal hypodysplasia/aplasia 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6144"	"ITGA8"	"OMIM:191830"	"Renal hypodysplasia/aplasia 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-17 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78413"	"2025-01-17"
"GENCC_000101-HGNC_6156-OMIM_619271-HP_0000006-GENCC_100003"	"HGNC:6156"	"ITGB3"	"MONDO:0030996"	"bleeding disorder, platelet-type, 24"	"OMIM:619271"	"Bleeding disorder, platelet-type, 24, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6156"	"ITGB3"	"OMIM:619271"	"Bleeding disorder, platelet-type, 24, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-21 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74456"	"2025-01-17"
"GENCC_000101-HGNC_6156-OMIM_619267-HP_0000007-GENCC_100001"	"HGNC:6156"	"ITGB3"	"MONDO:0031009"	"Glanzmann thrombasthenia 2"	"OMIM:619267"	"Glanzmann thrombasthenia 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6156"	"ITGB3"	"OMIM:619267"	"Glanzmann thrombasthenia 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-21 12:08:23"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42083"	"2025-01-17"
"GENCC_000101-HGNC_14202-OMIM_619492-HP_0000007-GENCC_100002"	"HGNC:14202"	"JPH2"	"MONDO:0030366"	"cardiomyopathy, dilated, 2E"	"OMIM:619492"	"Cardiomyopathy, dilated, 2E"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14202"	"JPH2"	"OMIM:619492"	"Cardiomyopathy, dilated, 2E"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-13 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15390"	"2025-01-17"
"GENCC_000101-HGNC_19309-OMIM_612900-HP_0000006-GENCC_100004"	"HGNC:19309"	"KANK1"	"MONDO:0013033"	"cerebral palsy, spastic quadriplegic, 2"	"OMIM:612900"	"Cerebral palsy, spastic quadriplegic, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19309"	"KANK1"	"OMIM:612900"	"Cerebral palsy, spastic quadriplegic, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-07 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61537"	"2025-01-17"
"GENCC_000101-HGNC_15904-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:15904"	"KAT14"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15904"	"KAT14"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-20 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42144"	"2025-01-17"
"GENCC_000101-HGNC_6225-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:6225"	"KCNA6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6225"	"KCNA6"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-20 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42084"	"2025-01-17"
"GENCC_000101-HGNC_6284-OMIM_617643-HP_0000007-GENCC_100003"	"HGNC:6284"	"KCNMA1"	"MONDO:0060551"	"cerebellar atrophy, developmental delay, and seizures"	"OMIM:617643"	"Cerebellar atrophy, developmental delay, and seizures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6284"	"KCNMA1"	"OMIM:617643"	"Cerebellar atrophy, developmental delay, and seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-02 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17048"	"2025-01-17"
"GENCC_000101-HGNC_6297-MONDO_0100062-HP_0000007-GENCC_100004"	"HGNC:6297"	"KCNQ3"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6297"	"KCNQ3"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-29 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42640"	"2025-01-17"
"GENCC_000101-HGNC_6298-OMIM_600101-HP_0000006-GENCC_100001"	"HGNC:6298"	"KCNQ4"	"MONDO:0010817"	"autosomal dominant nonsyndromic hearing loss 2A"	"OMIM:600101"	"Deafness, autosomal dominant 2A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6298"	"KCNQ4"	"OMIM:600101"	"Deafness, autosomal dominant 2A"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-25 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64616"	"2025-01-17"
"GENCC_000101-HGNC_23297-MONDO_0016643-HP_0000006-GENCC_100004"	"HGNC:23297"	"KCTD15"	"MONDO:0016643"	"frontonasal dysplasia"	"MONDO:0016643"	"frontonasal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23297"	"KCTD15"	"MONDO:0016643"	"frontonasal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-30 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42051"	"2025-01-17"
"GENCC_000101-HGNC_9886-OMIM_620820-HP_0000007-GENCC_100004"	"HGNC:9886"	"KDM5A"	"MONDO:0970951"	"El Hayek-Chahrour neurodevelopmental disorder"	"OMIM:620820"	"El Hayek-Chahrour neurodevelopmental syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9886"	"KDM5A"	"OMIM:620820"	"El Hayek-Chahrour neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-14 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"81721"	"2025-01-17"
"GENCC_000101-HGNC_9886-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:9886"	"KDM5A"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9886"	"KDM5A"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-14 12:08:24"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42480"	"2025-01-17"
"GENCC_000101-HGNC_11114-OMIM_300534-HP_0001417-GENCC_100001"	"HGNC:11114"	"KDM5C"	"MONDO:0010355"	"syndromic X-linked intellectual disability Claes-Jensen type"	"OMIM:300534"	"Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11114"	"KDM5C"	"OMIM:300534"	"Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-10-31 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42422"	"2025-01-17"
"GENCC_000101-HGNC_6309-OMIM_217300-HP_0000007-GENCC_100003"	"HGNC:6309"	"KERA"	"MONDO:0009014"	"cornea plana 2"	"OMIM:217300"	"Cornea plana 2, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6309"	"KERA"	"OMIM:217300"	"Cornea plana 2, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-21 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9483"	"2025-01-17"
"GENCC_000101-HGNC_21495-OMIM_619662-HP_0000007-GENCC_100003"	"HGNC:21495"	"KIF12"	"MONDO:0030505"	"cholestasis, progressive familial intrahepatic, 8"	"OMIM:619662"	"Cholestasis, progressive familial intrahepatic, 8"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21495"	"KIF12"	"OMIM:619662"	"Cholestasis, progressive familial intrahepatic, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-28 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11599"	"2025-01-17"
"GENCC_000101-HGNC_19349-MONDO_0015168-HP_0000007-GENCC_100003"	"HGNC:19349"	"KIF21A"	"MONDO:0015168"	"arthrogryposis multiplex congenita"	"MONDO:0015168"	"arthrogryposis multiplex congenita"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19349"	"KIF21A"	"MONDO:0015168"	"arthrogryposis multiplex congenita"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-20 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13636"	"2025-01-17"
"GENCC_000101-HGNC_6391-OMIM_603546-HP_0000006-GENCC_100002"	"HGNC:6391"	"KIF22"	"MONDO:0011335"	"spondyloepimetaphyseal dysplasia with multiple dislocations"	"OMIM:603546"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6391"	"KIF22"	"OMIM:603546"	"Spondyloepimetaphyseal dysplasia with joint laxity, type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-19 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63818"	"2025-01-17"
"GENCC_000101-HGNC_6342-OMIM_606764-HP_0000006-GENCC_100002"	"HGNC:6342"	"KIT"	"MONDO:0011719"	"gastrointestinal stromal tumor"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6342"	"KIT"	"OMIM:606764"	"Gastrointestinal stromal tumor, familial"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-11-20 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13067"	"2025-01-17"
"GENCC_000101-HGNC_6343-OMIM_145250-HP_0000006-GENCC_100003"	"HGNC:6343"	"KITLG"	"MONDO:0007771"	"hyperpigmentation with or without hypopigmentation, familial progressive"	"OMIM:145250"	"Hyperpigmentation with or without hypopigmentation"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6343"	"KITLG"	"OMIM:145250"	"Hyperpigmentation with or without hypopigmentation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-21 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76943"	"2025-01-17"
"GENCC_000101-HGNC_6343-OMIM_619947-HP_0000007-GENCC_100004"	"HGNC:6343"	"KITLG"	"MONDO:0030983"	"Waardenburg syndrome, IIa 2F"	"OMIM:619947"	"Waardenburg syndrome, type 2F"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6343"	"KITLG"	"OMIM:619947"	"Waardenburg syndrome, type 2F"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-20 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42784"	"2025-01-17"
"GENCC_000101-HGNC_28557-OMIM_236000-HP_0000006-GENCC_100004"	"HGNC:28557"	"KLHDC8B"	"MONDO:0009348"	"classic Hodgkin lymphoma"	"OMIM:236000"	"{Hodgkin lymphoma, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28557"	"KLHDC8B"	"OMIM:236000"	"Hodgkin lymphoma, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-24 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42732"	"2025-01-17"
"GENCC_000101-HGNC_18829-OMIM_615081-HP_0000006-GENCC_100004"	"HGNC:18829"	"KLHL10"	"MONDO:0014037"	"spermatogenic failure 11"	"OMIM:615081"	"Spermatogenic failure 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18829"	"KLHL10"	"OMIM:615081"	"Spermatogenic failure 11"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-26 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42730"	"2025-01-17"
"GENCC_000101-HGNC_6396-OMIM_620106-HP_0000006-GENCC_100003"	"HGNC:6396"	"KPNA3"	"MONDO:0859309"	"spastic paraplegia 88, autosomal dominant"	"OMIM:620106"	"Spastic paraplegia 88, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6396"	"KPNA3"	"OMIM:620106"	"Spastic paraplegia 88, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-24 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13822"	"2025-01-17"
"GENCC_000101-HGNC_6413-OMIM_620707-HP_0000007-GENCC_100003"	"HGNC:6413"	"KRT10"	"MONDO:0700245"	"epidermolytic hyperkeratosis 2B, autosomal recessive"	"OMIM:620707"	"Epidermolytic hyperkeratosis 2B, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6413"	"KRT10"	"OMIM:620707"	"Epidermolytic hyperkeratosis 2B, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-08 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"9526"	"2025-01-17"
"GENCC_000101-HGNC_6413-OMIM_620150-HP_0000006-GENCC_100002"	"HGNC:6413"	"KRT10"	"MONDO:0700248"	"epidermolytic hyperkeratosis 2A, autosomal dominant"	"OMIM:620150"	"Epidermolytic hyperkeratosis 2A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6413"	"KRT10"	"OMIM:620150"	"Epidermolytic hyperkeratosis 2A, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-04-09 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63898"	"2025-01-17"
"GENCC_000101-HGNC_6442-OMIM_619599-HP_0000007-GENCC_100003"	"HGNC:6442"	"KRT5"	"MONDO:0030535"	"epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive"	"OMIM:619599"	"Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6442"	"KRT5"	"OMIM:619599"	"Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-10 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78545"	"2025-01-17"
"GENCC_000101-HGNC_6462-OMIM_602032-HP_0000007-GENCC_100003"	"HGNC:6462"	"KRT85"	"MONDO:0011177"	"ectodermal dysplasia 4, hair/nail type"	"OMIM:602032"	"Ectodermal dysplasia 4, hair/nail type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6462"	"KRT85"	"OMIM:602032"	"Ectodermal dysplasia 4, hair/nail type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-29 12:08:25"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42731"	"2025-01-17"
"GENCC_000101-HGNC_21244-OMIM_619322-HP_0000006-GENCC_100004"	"HGNC:21244"	"LEMD2"	"MONDO:0859147"	"Marbach-Rustad progeroid syndrome"	"OMIM:619322"	"Marbach-Rustad progeroid syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21244"	"LEMD2"	"OMIM:619322"	"Marbach-Rustad progeroid syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-12-05 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13866"	"2025-01-17"
"GENCC_000101-HGNC_6553-OMIM_614962-HP_0000007-GENCC_100001"	"HGNC:6553"	"LEP"	"MONDO:0013991"	"obesity due to congenital leptin deficiency"	"OMIM:614962"	"Obesity, morbid, due to leptin deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6553"	"LEP"	"OMIM:614962"	"Obesity, morbid, due to leptin deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-08 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42185"	"2025-01-17"
"GENCC_000101-HGNC_6584-OMIM_228300-HP_0000007-GENCC_100003"	"HGNC:6584"	"LHB"	"MONDO:0009223"	"hypogonadotropic hypogonadism 23 with or without anosmia"	"OMIM:228300"	"Hypogonadotropic hypogonadism 23 with or without anosmia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6584"	"LHB"	"OMIM:228300"	"Hypogonadotropic hypogonadism 23 with or without anosmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-29 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"76024"	"2025-01-17"
"GENCC_000101-HGNC_6594-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:6594"	"LHX2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6594"	"LHX2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-26 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"75841"	"2025-01-17"
"GENCC_000101-HGNC_26521-OMIM_613079-HP_0000007-GENCC_100001"	"HGNC:26521"	"LOXHD1"	"MONDO:0013119"	"autosomal recessive nonsyndromic hearing loss 77"	"OMIM:613079"	"Deafness, autosomal recessive 77"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26521"	"LOXHD1"	"OMIM:613079"	"Deafness, autosomal recessive 77"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-06-04 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67577"	"2025-01-17"
"GENCC_000101-HGNC_17171-MONDO_0018230-HP_0000006-GENCC_100004"	"HGNC:17171"	"LOXL4"	"MONDO:0018230"	"skeletal dysplasia"	"MONDO:0018230"	"skeletal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17171"	"LOXL4"	"MONDO:0018230"	"skeletal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-19 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42462"	"2025-01-17"
"GENCC_000101-HGNC_6677-OMIM_238600-HP_0000007-GENCC_100001"	"HGNC:6677"	"LPL"	"MONDO:0009387"	"familial lipoprotein lipase deficiency"	"OMIM:238600"	"[High density lipoprotein cholesterol level QTL 11]"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6677"	"LPL"	"OMIM:238600"	"Lipoprotein lipase deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-12-28 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63292"	"2025-01-17"
"GENCC_000101-HGNC_20889-OMIM_615112-HP_0000007-GENCC_100003"	"HGNC:20889"	"LRIG2"	"MONDO:0014049"	"urofacial syndrome 2"	"OMIM:615112"	"Urofacial syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20889"	"LRIG2"	"OMIM:615112"	"Urofacial syndrome 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-17 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64878"	"2025-01-17"
"GENCC_000101-HGNC_6692-OMIM_620690-HP_0000006-GENCC_100004"	"HGNC:6692"	"LRP1"	"MONDO:0958037"	"developmental dysplasia of the hip 3"	"OMIM:620690"	"Developmental dysplasia of the hip 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6692"	"LRP1"	"OMIM:620690"	"Developmental dysplasia of the hip 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-29 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42951"	"2025-01-17"
"GENCC_000101-HGNC_6701-OMIM_615431-HP_0000007-GENCC_100004"	"HGNC:6701"	"LRPAP1"	"MONDO:0014183"	"myopia 23, autosomal recessive"	"OMIM:615431"	"Myopia 23, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6701"	"LRPAP1"	"OMIM:615431"	"Myopia 23, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-17 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78775"	"2025-01-17"
"GENCC_000101-HGNC_6776-OMIM_610202-HP_0000006-GENCC_100002"	"HGNC:6776"	"MAF"	"MONDO:0012437"	"cataract 21 multiple types"	"OMIM:610202"	"Cataract 21, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6776"	"MAF"	"OMIM:610202"	"Cataract 21, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-10-10 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78336"	"2025-01-17"
"GENCC_000101-HGNC_6776-OMIM_601088-HP_0000006-GENCC_100002"	"HGNC:6776"	"MAF"	"MONDO:0010992"	"Ayme-Gripp syndrome"	"OMIM:601088"	"Ayme-Gripp syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6776"	"MAF"	"OMIM:601088"	"Ayme-Gripp syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-02-27 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71660"	"2025-01-17"
"GENCC_000101-HGNC_29623-MONDO_0800141-HP_0000007-GENCC_100004"	"HGNC:29623"	"MAN2B2"	"MONDO:0800141"	"MAN2B2 deficiency"	"MONDO:0800141"	"MAN2B2 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29623"	"MAN2B2"	"MONDO:0800141"	"MAN2B2 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-29 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42761"	"2025-01-17"
"GENCC_000101-HGNC_6909-OMIM_608728-HP_0000007-GENCC_100004"	"HGNC:6909"	"MATN3"	"MONDO:0012108"	"spondyloepimetaphyseal dysplasia, matrilin-3 type"	"OMIM:608728"	"Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6909"	"MATN3"	"OMIM:608728"	"Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-10 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65346"	"2025-01-17"
"GENCC_000101-HGNC_6909-OMIM_607078-HP_0000006-GENCC_100002"	"HGNC:6909"	"MATN3"	"MONDO:0011765"	"multiple epiphyseal dysplasia type 5"	"OMIM:607078"	"Epiphyseal dysplasia, multiple, 5"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6909"	"MATN3"	"OMIM:607078"	"Epiphyseal dysplasia, multiple, 5"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-24 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65340"	"2025-01-17"
"GENCC_000101-HGNC_6913-OMIM_620712-HP_0000006-GENCC_100004"	"HGNC:6913"	"MAX"	"MONDO:0958227"	"polydactyly-macrocephaly syndrome"	"OMIM:620712"	"Polydactyly-macrocephaly syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6913"	"MAX"	"OMIM:620712"	"Polydactyly-macrocephaly syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-05 12:08:26"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42910"	"2025-01-17"
"GENCC_000101-HGNC_6919-OMIM_606660-HP_0000006-GENCC_100004"	"HGNC:6919"	"MBD4"	"MONDO:0011695"	"melanoma, uveal, susceptibility to, 1"	"OMIM:606660"	"{Uveal melanoma, susceptibility to, 1}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6919"	"MBD4"	"OMIM:606660"	"Uveal melanoma, susceptibility to, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-30 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14214"	"2025-01-17"
"GENCC_000101-HGNC_18451-OMIM_613625-HP_0000007-GENCC_100001"	"HGNC:18451"	"MCFD2"	"MONDO:0013331"	"factor 5 and Factor VIII, combined deficiency of, 2"	"OMIM:613625"	"Factor V and factor VIII, combined deficiency of"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18451"	"MCFD2"	"OMIM:613625"	"Factor V and factor VIII, combined deficiency of"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-12 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"0842"	"2025-01-17"
"GENCC_000101-HGNC_13356-OMIM_620763-HP_0000006-GENCC_100004"	"HGNC:13356"	"MCOLN1"	"MONDO:0010425"	"Lisch epithelial corneal dystrophy"	"OMIM:620763"	"Lisch epithelial corneal dystrophy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13356"	"MCOLN1"	"OMIM:620763"	"Lisch epithelial corneal dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-09 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42980"	"2025-01-17"
"GENCC_000101-HGNC_23357-OMIM_301115-HP_0001417-GENCC_100003"	"HGNC:23357"	"MCTS1"	"MONDO:0958030"	"immunodeficiency 118"	"OMIM:301115"	"Immunodeficiency 118, mycobacteriosis"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23357"	"MCTS1"	"OMIM:301115"	"Immunodeficiency 118, mycobacteriosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-29 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42955"	"2025-01-17"
"GENCC_000101-HGNC_25979-OMIM_620550-HP_0000006-GENCC_100004"	"HGNC:25979"	"MIEF1"	"MONDO:0957824"	"optic atrophy 14"	"OMIM:620550"	"Optic atrophy 14"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25979"	"MIEF1"	"OMIM:620550"	"Optic atrophy 14"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-28 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42646"	"2025-01-17"
"GENCC_000101-HGNC_31582-OMIM_616722-HP_0000006-GENCC_100004"	"HGNC:31582"	"MIR204"	"MONDO:0014747"	"familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"	"OMIM:616722"	"Retinal dystrophy and iris coloboma with or without cataract"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:31582"	"MIR204"	"OMIM:616722"	"Retinal dystrophy and iris coloboma with or without cataract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-02 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42401"	"2025-01-17"
"GENCC_000101-HGNC_14334-OMIM_618847-HP_0000007-GENCC_100004"	"HGNC:14334"	"MRTFA"	"MONDO:0030013"	"immunodeficiency 66"	"OMIM:618847"	"?Immunodeficiency 66"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14334"	"MKL1"	"OMIM:618847"	"Immunodeficiency 66"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-06 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"12183"	"2025-01-17"
"GENCC_000101-HGNC_7128-OMIM_614385-HP_0000006-GENCC_100004"	"HGNC:7128"	"MLH3"	"MONDO:0013725"	"colorectal cancer, hereditary nonpolyposis, type 7"	"OMIM:614385"	"Colorectal cancer, hereditary nonpolyposis, type 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7128"	"MLH3"	"OMIM:614385"	"Colorectal cancer, hereditary nonpolyposis, type 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-27 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13402"	"2025-01-17"
"GENCC_000101-HGNC_7159-OMIM_250400-HP_0000007-GENCC_100003"	"HGNC:7159"	"MMP13"	"MONDO:0009597"	"metaphyseal chondrodysplasia, Spahr type"	"OMIM:250400"	"Metaphyseal dysplasia, Spahr type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7159"	"MMP13"	"OMIM:250400"	"Metaphyseal dysplasia, Spahr type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-11 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"84378"	"2025-01-17"
"GENCC_000101-HGNC_7159-OMIM_602111-HP_0000006-GENCC_100003"	"HGNC:7159"	"MMP13"	"MONDO:0011198"	"spondyloepimetaphyseal dysplasia, Missouri type"	"OMIM:602111"	"Metaphyseal anadysplasia 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7159"	"MMP13"	"OMIM:602111"	"Metaphyseal anadysplasia 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-11 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65532"	"2025-01-17"
"GENCC_000101-HGNC_7230-MONDO_0008315-HP_0000006-GENCC_100005"	"HGNC:7230"	"MRE11"	"MONDO:0008315"	"prostate cancer"	"MONDO:0008315"	"prostate cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7230"	"MRE11A"	"MONDO:0008315"	"Prostate cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2024-01-18 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42992"	"2025-01-17"
"GENCC_000101-HGNC_7230-MONDO_0007254-HP_0000006-GENCC_100005"	"HGNC:7230"	"MRE11"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100005"	"Disputed Evidence"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7230"	"MRE11A"	"MONDO:0007254"	"breast cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100005"	"Disputed Evidence"	"2024-05-30 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"85245"	"2025-01-17"
"GENCC_000101-HGNC_7230-OMIM_604391-HP_0000007-GENCC_100002"	"HGNC:7230"	"MRE11"	"MONDO:0024557"	"ataxia-telangiectasia-like disorder 1"	"OMIM:604391"	"Ataxia-telangiectasia-like disorder 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7230"	"MRE11A"	"OMIM:604391"	"Ataxia-telangiectasia-like disorder 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-05-31 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65514"	"2025-01-17"
"GENCC_000101-HGNC_14509-OMIM_618952-HP_0000007-GENCC_100004"	"HGNC:14509"	"MRPS23"	"MONDO:0033534"	"combined oxidative phosphorylation deficiency 46"	"OMIM:618952"	"?Combined oxidative phosphorylation deficiency 46"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14509"	"MRPS23"	"OMIM:618952"	"Combined oxidative phosphorylation deficiency 46"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-08 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15460"	"2025-01-17"
"GENCC_000101-HGNC_16631-MONDO_0009723-HP_0000007-GENCC_100004"	"HGNC:16631"	"KGD4"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16631"	"MRPS36"	"MONDO:0009723"	"Leigh syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-20 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42776"	"2025-01-17"
"GENCC_000101-HGNC_14907-MONDO_0018230-HP_0000007-GENCC_100004"	"HGNC:14907"	"MSGN1"	"MONDO:0018230"	"skeletal dysplasia"	"MONDO:0018230"	"skeletal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14907"	"MSGN1"	"MONDO:0018230"	"skeletal dysplasia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-03 12:08:27"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42001"	"2025-01-17"
"GENCC_000101-HGNC_25544-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:25544"	"MSL2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25544"	"MSL2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-14 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13008"	"2025-01-17"
"GENCC_000101-HGNC_4223-OMIM_614160-HP_0000007-GENCC_100004"	"HGNC:4223"	"MSTN"	"MONDO:0013598"	"myostatin-related muscle hypertrophy"	"OMIM:614160"	"?Muscle hypertrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4223"	"MSTN"	"OMIM:614160"	"Muscle hypertrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-24 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"63159"	"2025-01-17"
"GENCC_000101-HGNC_7551-OMIM_115197-HP_0000007-GENCC_100002"	"HGNC:7551"	"MYBPC3"	"MONDO:0007268"	"hypertrophic cardiomyopathy 4"	"OMIM:115197"	"Cardiomyopathy, hypertrophic, 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7551"	"MYBPC3"	"OMIM:115197"	"Cardiomyopathy, hypertrophic, 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-05-21 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42033"	"2025-01-17"
"GENCC_000101-HGNC_7551-OMIM_615396-HP_0000007-GENCC_100004"	"HGNC:7551"	"MYBPC3"	"MONDO:0014163"	"left ventricular noncompaction 10"	"OMIM:615396"	"Left ventricular noncompaction 10"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7551"	"MYBPC3"	"OMIM:615396"	"Cardiomyopathy, dilated, 1MM"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-08 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42722"	"2025-01-17"
"GENCC_000101-HGNC_7569-OMIM_619350-HP_0000007-GENCC_100004"	"HGNC:7569"	"MYH11"	"MONDO:0859157"	"visceral myopathy 2"	"OMIM:619350"	"Visceral myopathy 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7569"	"MYH11"	"OMIM:619350"	"Visceral myopathy 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-08 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42913"	"2025-01-17"
"GENCC_000101-HGNC_29826-MONDO_0005021-HP_0000007-GENCC_100003"	"HGNC:29826"	"MYLK3"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29826"	"MYLK3"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42971"	"2025-01-17"
"GENCC_000101-HGNC_7605-OMIM_606346-HP_0000006-GENCC_100001"	"HGNC:7605"	"MYO6"	"MONDO:0011660"	"autosomal dominant nonsyndromic hearing loss 22"	"OMIM:606346"	"Deafness, autosomal dominant 22"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7605"	"MYO6"	"OMIM:606346"	"Deafness, autosomal dominant 22"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-11-17 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"0794"	"2025-01-17"
"GENCC_000101-HGNC_7605-OMIM_607821-HP_0000007-GENCC_100003"	"HGNC:7605"	"MYO6"	"MONDO:0011912"	"autosomal recessive nonsyndromic hearing loss 37"	"OMIM:607821"	"Deafness, autosomal recessive 37"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7605"	"MYO6"	"OMIM:607821"	"Deafness, autosomal recessive 37"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-17 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42614"	"2025-01-17"
"GENCC_000101-HGNC_25875-OMIM_620786-HP_0000007-GENCC_100003"	"HGNC:25875"	"NAA60"	"MONDO:0968977"	"basal ganglia calcification, idiopathic, 9, autosomal recessive"	"OMIM:620786"	"Basal ganglia calcification, idiopathic, 9, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25875"	"NAA60"	"OMIM:620786"	"Basal ganglia calcification, idiopathic, 9, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-13 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42018"	"2025-01-17"
"GENCC_000101-HGNC_20967-OMIM_617393-HP_0000006-GENCC_100002"	"HGNC:20967"	"NACC1"	"MONDO:0044306"	"neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"	"OMIM:617393"	"Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20967"	"NACC1"	"OMIM:617393"	"Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2023-12-19 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17460"	"2025-01-17"
"GENCC_000101-HGNC_7643-OMIM_619091-HP_0000007-GENCC_100003"	"HGNC:7643"	"NARS1"	"MONDO:0100348"	"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"	"OMIM:619091"	"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7643"	"NARS"	"OMIM:619091"	"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-28 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15968"	"2025-01-17"
"GENCC_000101-HGNC_7643-OMIM_619092-HP_0000006-GENCC_100003"	"HGNC:7643"	"NARS1"	"MONDO:0030837"	"neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities"	"OMIM:619092"	"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7643"	"NARS"	"OMIM:619092"	"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-08 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42029"	"2025-01-17"
"GENCC_000101-HGNC_7672-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:7672"	"NCOR1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7672"	"NCOR1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-08 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42742"	"2025-01-17"
"GENCC_000101-HGNC_13387-MONDO_0014174-HP_0000007-GENCC_100002"	"HGNC:13387"	"NEK8"	"MONDO:0014174"	"renal-hepatic-pancreatic dysplasia 2"	"MONDO:0014174"	"renal-hepatic-pancreatic dysplasia 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13387"	"NEK8"	"MONDO:0014174"	"renal-hepatic-pancreatic dysplasia 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-20 12:08:28"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67190"	"2025-01-17"
"GENCC_000101-HGNC_13387-MONDO_0971178-HP_0000006-GENCC_100003"	"HGNC:13387"	"NEK8"	"MONDO:0971178"	"polycystic kidney disease 8"	"MONDO:0971178"	"polycystic kidney disease 8"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13387"	"NEK8"	"MONDO:0971178"	"polycystic kidney disease 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-21 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11853"	"2025-01-17"
"GENCC_000101-HGNC_7762-OMIM_606394-HP_0000006-GENCC_100003"	"HGNC:7762"	"NEUROD1"	"MONDO:0011668"	"maturity-onset diabetes of the young type 6"	"OMIM:606394"	"Maturity-onset diabetes of the young 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7762"	"NEUROD1"	"OMIM:606394"	"Maturity-onset diabetes of the young 6"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-20 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65463"	"2025-01-17"
"GENCC_000101-HGNC_7762-MONDO_0100038-HP_0000007-GENCC_100003"	"HGNC:7762"	"NEUROD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7762"	"NEUROD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-20 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42638"	"2025-01-17"
"GENCC_000101-HGNC_7776-OMIM_620232-HP_0000007-GENCC_100004"	"HGNC:7776"	"NFATC2"	"MONDO:0859369"	"joint contractures, osteochondromas, and B-cell lymphoma"	"OMIM:620232"	"?Joint contracture, osteochondromas, and B-cell lymphoma"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7776"	"NFATC2"	"OMIM:620232"	"Joint contracture, osteochondromas, and B-cell lymphoma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-04 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42472"	"2025-01-17"
"GENCC_000101-HGNC_14374-OMIM_615225-HP_0000006-GENCC_100002"	"HGNC:14374"	"NLRP1"	"MONDO:0014089"	"corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	"OMIM:615225"	"Palmoplantar carcinoma, multiple self-healing"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14374"	"NLRP1"	"OMIM:615225"	"Palmoplantar carcinoma, multiple self-healing"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-06 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11232"	"2025-01-17"
"GENCC_000101-HGNC_7882-OMIM_610205-HP_0000006-GENCC_100003"	"HGNC:7882"	"NOTCH2"	"MONDO:0012439"	"Alagille syndrome due to a NOTCH2 point mutation"	"OMIM:610205"	"Alagille syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7882"	"NOTCH2"	"OMIM:610205"	"Alagille syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-14 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"0442"	"2025-01-17"
"GENCC_000101-HGNC_7883-OMIM_125310-HP_0000007-GENCC_100003"	"HGNC:7883"	"NOTCH3"	"MONDO:0000914"	"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"	"OMIM:125310"	"Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7883"	"NOTCH3"	"OMIM:125310"	"Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-10 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74897"	"2025-01-17"
"GENCC_000101-HGNC_18983-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:18983"	"NPAS4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18983"	"NPAS4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-26 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"83241"	"2025-01-17"
"GENCC_000101-HGNC_7896-MONDO_0005575-HP_0000006-GENCC_100004"	"HGNC:7896"	"NPAT"	"MONDO:0005575"	"colorectal cancer"	"MONDO:0005575"	"colorectal cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7896"	"NPAT"	"MONDO:0005575"	"colorectal cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-27 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42712"	"2025-01-17"
"GENCC_000101-HGNC_19104-OMIM_606966-HP_0000007-GENCC_100001"	"HGNC:19104"	"NPHP4"	"MONDO:0011752"	"nephronophthisis 4"	"OMIM:606966"	"Nephronophthisis 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19104"	"NPHP4"	"OMIM:606966"	"Nephronophthisis 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-11-13 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67116"	"2025-01-17"
"GENCC_000101-HGNC_7944-MONDO_0014401-HP_0000006-GENCC_100003"	"HGNC:7944"	"NPR2"	"MONDO:0014401"	"tall stature-scoliosis-macrodactyly of the great toes syndrome"	"MONDO:0014401"	"tall stature-scoliosis-macrodactyly of the great toes syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7944"	"NPR2"	"MONDO:0014401"	"tall stature-scoliosis-macrodactyly of the great toes syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-12 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"0526"	"2025-01-17"
"GENCC_000101-HGNC_7973-MONDO_0001149-HP_0000006-GENCC_100004"	"HGNC:7973"	"NR2E1"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:7973"	"NR2E1"	"MONDO:0001149"	"microcephaly"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-14 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"83693"	"2025-01-17"
"GENCC_000101-HGNC_29843-OMIM_614838-HP_0000006-GENCC_100004"	"HGNC:29843"	"NSMF"	"MONDO:0013911"	"hypogonadotropic hypogonadism 9 with or without anosmia"	"OMIM:614838"	"Hypogonadotropic hypogonadism 9 with or without anosmia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29843"	"NSMF"	"OMIM:614838"	"Hypogonadotropic hypogonadism 9 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-09 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61432"	"2025-01-17"
"GENCC_000101-HGNC_17820-OMIM_266120-HP_0000007-GENCC_100001"	"HGNC:17820"	"NT5C3A"	"MONDO:0009946"	"hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"	"OMIM:266120"	"Anemia, congenital, nonspherocytic hemolytic, 8"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17820"	"NT5C3A"	"OMIM:266120"	"Anemia, hemolytic, due to UMPH1 deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-07-10 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"0544"	"2025-01-17"
"GENCC_000101-HGNC_8028-MONDO_0007254-HP_0000007-GENCC_100004"	"HGNC:8028"	"NTHL1"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8028"	"NTHL1"	"MONDO:0007254"	"breast cancer"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-05 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42918"	"2025-01-17"
"GENCC_000101-HGNC_8028-MONDO_0016642-HP_0000007-GENCC_100004"	"HGNC:8028"	"NTHL1"	"MONDO:0016642"	"meningioma"	"MONDO:0016642"	"meningioma"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8028"	"NTHL1"	"MONDO:0016642"	"meningioma"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-05 12:08:29"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42916"	"2025-01-17"
"GENCC_000101-HGNC_8049-OMIM_619844-HP_0000007-GENCC_100004"	"HGNC:8049"	"NUDT2"	"MONDO:0859240"	"intellectual developmental disorder with or without peripheral neuropathy"	"OMIM:619844"	"Intellectual developmental disorder with or without peripheral neuropathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8049"	"NUDT2"	"OMIM:619844"	"Intellectual developmental disorder with or without peripheral neuropathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-17 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18656"	"2025-01-17"
"GENCC_000101-HGNC_18016-OMIM_618177-HP_0000007-GENCC_100004"	"HGNC:18016"	"NUP133"	"MONDO:0032581"	"nephrotic syndrome, type 18"	"OMIM:618177"	"Nephrotic syndrome, type 18"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18016"	"NUP133"	"OMIM:618177"	"Nephrotic syndrome, type 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-14 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42610"	"2025-01-17"
"GENCC_000101-HGNC_4206-OMIM_303700-HP_0001417-GENCC_100008"	"HGNC:4206"	"OPN1MW"	"MONDO:0010563"	"blue cone monochromacy"	"OMIM:303700"	"Blue cone monochromacy"	"GENCC:100008"	"No Known Disease Relationship"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:4206"	"OPN1MW"	"OMIM:303700"	"Blue cone monochromacy"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100008"	"No Known Disease Relationship"	"2024-01-05 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42635"	"2025-01-17"
"GENCC_000101-HGNC_1012-OMIM_190900-HP_0000006-GENCC_100004"	"HGNC:1012"	"OPN1SW"	"MONDO:0008610"	"blue color blindness"	"OMIM:190900"	"Colorblindness, tritan"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1012"	"OPN1SW"	"OMIM:190900"	"Colorblindness, tritan"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-22 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"0372"	"2025-01-17"
"GENCC_000101-HGNC_8538-MONDO_0005336-HP_0000007-GENCC_100004"	"HGNC:8538"	"P2RX6"	"MONDO:0005336"	"myopathy"	"MONDO:0005336"	"myopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8538"	"P2RX6"	"MONDO:0005336"	"myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-25 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42045"	"2025-01-17"
"GENCC_000101-HGNC_18124-OMIM_609821-HP_0000007-GENCC_100004"	"HGNC:18124"	"P2RY12"	"MONDO:0012354"	"platelet-type bleeding disorder 8"	"OMIM:609821"	"Bleeding disorder, platelet-type, 8"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18124"	"P2RY12"	"OMIM:609821"	"Bleeding disorder, platelet-type, 8"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-29 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61666"	"2025-01-17"
"GENCC_000101-HGNC_8572-MONDO_0005336-HP_0000007-GENCC_100003"	"HGNC:8572"	"PACSIN3"	"MONDO:0005336"	"myopathy"	"MONDO:0005336"	"myopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8572"	"PACSIN3"	"MONDO:0005336"	"myopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-12-11 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42410"	"2025-01-17"
"GENCC_000101-HGNC_8591-OMIM_618458-HP_0000006-GENCC_100003"	"HGNC:8591"	"PAK2"	"MONDO:0100119"	"Knobloch syndrome 2"	"OMIM:618458"	"?Knobloch syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8591"	"PAK2"	"OMIM:618458"	"Knobloch syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-15 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15790"	"2025-01-17"
"GENCC_000101-HGNC_8621-OMIM_618578-HP_0000007-GENCC_100004"	"HGNC:8621"	"PAX7"	"MONDO:0032821"	"myopathy, congenital, progressive, with scoliosis"	"OMIM:618578"	"Congenital myopathy 19"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8621"	"PAX7"	"OMIM:618578"	"Congenital myopathy 19"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-25 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42900"	"2025-01-17"
"GENCC_000101-HGNC_8675-MONDO_0004976-HP_0000007-GENCC_100004"	"HGNC:8675"	"PCDHA9"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8675"	"PCDHA9"	"MONDO:0004976"	"amyotrophic lateral sclerosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-19 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42087"	"2025-01-17"
"GENCC_000101-HGNC_8703-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:8703"	"PCDHGA5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8703"	"PCDHGA5"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-03 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42715"	"2025-01-17"
"GENCC_000101-HGNC_25386-MONDO_0044970-HP_0000007-GENCC_100004"	"HGNC:25386"	"PDE12"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25386"	"PDE12"	"MONDO:0044970"	"mitochondrial disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-30 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42400"	"2025-01-17"
"GENCC_000101-HGNC_8786-OMIM_163500-HP_0000006-GENCC_100004"	"HGNC:8786"	"PDE6B"	"MONDO:0008099"	"congenital stationary night blindness autosomal dominant 2"	"OMIM:163500"	"Night blindness, congenital stationary, autosomal dominant 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8786"	"PDE6B"	"OMIM:163500"	"Night blindness, congenital stationary, autosomal dominant 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-30 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"7823"	"2025-01-17"
"GENCC_000101-HGNC_8789-OMIM_613582-HP_0000007-GENCC_100003"	"HGNC:8789"	"PDE6G"	"MONDO:0013315"	"retinitis pigmentosa 57"	"OMIM:613582"	"Retinitis pigmentosa 57"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8789"	"PDE6G"	"OMIM:613582"	"Retinitis pigmentosa 57"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-12 12:08:30"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65713"	"2025-01-17"
"GENCC_000101-HGNC_8790-OMIM_610024-HP_0000007-GENCC_100004"	"HGNC:8790"	"PDE6H"	"MONDO:0012398"	"retinal cone dystrophy 3A"	"OMIM:610024"	"Achromatopsia 6"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8790"	"PDE6H"	"OMIM:610024"	"Achromatopsia 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-13 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42183"	"2025-01-17"
"GENCC_000101-HGNC_17637-OMIM_619209-HP_0000007-GENCC_100003"	"HGNC:17637"	"PERP"	"MONDO:0030941"	"erythrokeratodermia variabilis et progressiva 7"	"OMIM:619209"	"Erythrokeratodermia variabilis et progressiva 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17637"	"PERP"	"OMIM:619209"	"Erythrokeratodermia variabilis et progressiva 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-29 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11341"	"2025-01-17"
"GENCC_000101-HGNC_17637-OMIM_619208-HP_0000006-GENCC_100003"	"HGNC:17637"	"PERP"	"MONDO:0030961"	"Olmsted syndrome 2"	"OMIM:619208"	"Olmsted syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17637"	"PERP"	"OMIM:619208"	"Olmsted syndrome 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-29 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42058"	"2025-01-17"
"GENCC_000101-HGNC_20990-OMIM_618298-HP_0000006-GENCC_100002"	"HGNC:20990"	"PHACTR1"	"MONDO:0032663"	"developmental and epileptic encephalopathy, 70"	"OMIM:618298"	"Developmental and epileptic encephalopathy 70"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20990"	"PHACTR1"	"OMIM:618298"	"Developmental and epileptic encephalopathy 70"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-31 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"62864"	"2025-01-17"
"GENCC_000101-HGNC_20956-MONDO_0005021-HP_0000007-GENCC_100004"	"HGNC:20956"	"PHACTR2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20956"	"PHACTR2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-01 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42032"	"2025-01-17"
"GENCC_000101-HGNC_8940-OMIM_266500-HP_0000007-GENCC_100001"	"HGNC:8940"	"PHYH"	"MONDO:0009958"	"adult Refsum disease"	"OMIM:266500"	"Refsum disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8940"	"PHYH"	"OMIM:266500"	"Refsum disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-12-02 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65031"	"2025-01-17"
"GENCC_000101-HGNC_25985-OMIM_616917-HP_0000007-GENCC_100001"	"HGNC:25985"	"PIGG"	"MONDO:0014832"	"intellectual disability, autosomal recessive 53"	"OMIM:616917"	"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25985"	"PIGG"	"OMIM:616917"	"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-12-02 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42426"	"2025-01-17"
"GENCC_000101-HGNC_8977-OMIM_615513-HP_0000006-GENCC_100001"	"HGNC:8977"	"PIK3CD"	"MONDO:0014222"	"immunodeficiency 14"	"OMIM:615513"	"Immunodeficiency 14A, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8977"	"PIK3CD"	"OMIM:615513"	"Immunodeficiency 14A, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-12-15 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78949"	"2025-01-17"
"GENCC_000101-HGNC_8977-OMIM_619281-HP_0000007-GENCC_100003"	"HGNC:8977"	"PIK3CD"	"MONDO:0023655"	"immunodeficiency 14b, autosomal recessive"	"OMIM:619281"	"Immunodeficiency 14B, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8977"	"PIK3CD"	"OMIM:619281"	"Immunodeficiency 14B, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-15 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42655"	"2025-01-17"
"GENCC_000101-HGNC_8979-OMIM_615214-HP_0000007-GENCC_100004"	"HGNC:8979"	"PIK3R1"	"MONDO:0014083"	"agammaglobulinemia 7, autosomal recessive"	"OMIM:615214"	"?Agammaglobulinemia 7, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:8979"	"PIK3R1"	"OMIM:615214"	"Agammaglobulinemia 7, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-23 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42902"	"2025-01-17"
"GENCC_000101-HGNC_14581-OMIM_605909-HP_0000006-GENCC_100004"	"HGNC:14581"	"PINK1"	"MONDO:0011613"	"autosomal recessive early-onset Parkinson disease 6"	"OMIM:605909"	"Parkinson disease 6, early onset"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14581"	"PINK1"	"OMIM:605909"	"Parkinson disease 6, early onset"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-16 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"62663"	"2025-01-17"
"GENCC_000101-HGNC_30048-MONDO_0100038-HP_0001417-GENCC_100004"	"HGNC:30048"	"PIR"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30048"	"PIR"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-19 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42141"	"2025-01-17"
"GENCC_000101-HGNC_9009-OMIM_613095-HP_0000007-GENCC_100004"	"HGNC:9009"	"PKD2"	"MONDO:0013131"	"polycystic kidney disease 2"	"OMIM:613095"	"Polycystic kidney disease 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9009"	"PKD2"	"OMIM:613095"	"Polycystic kidney disease 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-03 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42631"	"2025-01-17"
"GENCC_000101-HGNC_20313-OMIM_620794-HP_0000007-GENCC_100004"	"HGNC:20313"	"PKHD1L1"	"MONDO:0968981"	"autosomal recessive nonsyndromic hearing loss 124"	"OMIM:620794"	"Deafness, autosomal recessive 124"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20313"	"PKHD1L1"	"OMIM:620794"	"Deafness, autosomal recessive 124"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-06 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42037"	"2025-01-17"
"GENCC_000101-HGNC_17825-OMIM_620683-HP_0000007-GENCC_100004"	"HGNC:17825"	"PLAAT3"	"MONDO:0958034"	"lipodystrophy, familial partial, type 9"	"OMIM:620683"	"Lipodystrophy, familial partial, type 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17825"	"PLA2G16"	"OMIM:620683"	"Lipodystrophy, familial partial, type 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-21 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13581"	"2025-01-17"
"GENCC_000101-HGNC_9031-OMIM_114500-HP_0000006-GENCC_100004"	"HGNC:9031"	"PLA2G2A"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9031"	"PLA2G2A"	"OMIM:114500"	"Colorectal cancer, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-23 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65075"	"2025-01-17"
"GENCC_000101-HGNC_9035-OMIM_618372-HP_0000007-GENCC_100004"	"HGNC:9035"	"PLA2G4A"	"MONDO:0018794"	"cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"	"OMIM:618372"	"Gastrointestinal ulceration, recurrent, with dysfunctional platelets"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9035"	"PLA2G4A"	"OMIM:618372"	"Gastrointestinal ulceration, recurrent, with dysfunctional platelets"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-13 12:08:31"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"77473"	"2025-01-17"
"GENCC_000101-HGNC_9038-OMIM_228980-HP_0000007-GENCC_100004"	"HGNC:9038"	"PLA2G5"	"MONDO:0009235"	"familial benign flecked retina"	"OMIM:228980"	"[Fleck retina, familial benign]"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9038"	"PLA2G5"	"OMIM:228980"	"Fleck retina, familial benign"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-14 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"7675"	"2025-01-17"
"GENCC_000101-HGNC_9060-OMIM_151600-HP_0000007-GENCC_100004"	"HGNC:9060"	"PLCD1"	"MONDO:0007900"	"nonsyndromic congenital nail disorder 3"	"OMIM:151600"	"Nail disorder, nonsyndromic congenital, 3, (leukonychia)"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9060"	"PLCD1"	"OMIM:151600"	"Nail disorder, nonsyndromic congenital, 3, (leukonychia)"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-14 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"7646"	"2025-01-17"
"GENCC_000101-HGNC_9060-OMIM_151600-HP_0000006-GENCC_100004"	"HGNC:9060"	"PLCD1"	"MONDO:0007900"	"nonsyndromic congenital nail disorder 3"	"OMIM:151600"	"Nail disorder, nonsyndromic congenital, 3, (leukonychia)"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9060"	"PLCD1"	"OMIM:151600"	"Nail disorder, nonsyndromic congenital, 3, (leukonychia)"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-15 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65003"	"2025-01-17"
"GENCC_000101-HGNC_9065-OMIM_620514-HP_0000006-GENCC_100004"	"HGNC:9065"	"PLCG1"	"MONDO:0957790"	"immune dysregulation, autoimmunity, and autoinflammation"	"OMIM:620514"	"?Immune dysregulation, autoimmunity, and autoinflammation"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9065"	"PLCG1"	"OMIM:620514"	"Immune dysregulation, autoimmunity, and autoinflammation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-02 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42710"	"2025-01-17"
"GENCC_000101-HGNC_9066-OMIM_614878-HP_0000006-GENCC_100002"	"HGNC:9066"	"PLCG2"	"MONDO:0013944"	"autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"	"OMIM:614878"	"Autoinflammation, antibody deficiency, and immune dysregulation syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9066"	"PLCG2"	"OMIM:614878"	"Autoinflammation, antibody deficiency, and immune dysregulation syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-02-21 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65004"	"2025-01-17"
"GENCC_000101-HGNC_9069-MONDO_0001751-HP_0000007-GENCC_100004"	"HGNC:9069"	"PLEC"	"MONDO:0001751"	"cholestasis"	"MONDO:0001751"	"cholestasis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9069"	"PLEC"	"MONDO:0001751"	"cholestasis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-03 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42405"	"2025-01-17"
"GENCC_000101-HGNC_29515-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:29515"	"PLEKHG2"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29515"	"PLEKHG2"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-27 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42773"	"2025-01-17"
"GENCC_000101-HGNC_29131-MONDO_0005021-HP_0000007-GENCC_100004"	"HGNC:29131"	"PLEKHM2"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29131"	"PLEKHM2"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-02 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74386"	"2025-01-17"
"GENCC_000101-HGNC_29393-OMIM_601846-HP_0000006-GENCC_100003"	"HGNC:29393"	"PLIN4"	"MONDO:0011155"	"vacuolar Neuromyopathy"	"OMIM:601846"	"Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29393"	"PLIN4"	"OMIM:601846"	"Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-11 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42136"	"2025-01-17"
"GENCC_000101-HGNC_9100-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:9100"	"PLXNA2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9100"	"PLXNA2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-17 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15306"	"2025-01-17"
"GENCC_000101-HGNC_9100-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:9100"	"PLXNA2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9100"	"PLXNA2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-17 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42728"	"2025-01-17"
"GENCC_000101-HGNC_9154-OMIM_613402-HP_0000007-GENCC_100002"	"HGNC:9154"	"PNKP"	"MONDO:0013254"	"microcephaly, seizures, and developmental delay"	"OMIM:613402"	"Microcephaly, seizures, and developmental delay"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9154"	"PNKP"	"OMIM:613402"	"Microcephaly, seizures, and developmental delay"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-23 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11940"	"2025-01-17"
"GENCC_000101-HGNC_30836-MONDO_0005308-HP_0000007-GENCC_100003"	"HGNC:30836"	"POC1B"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30836"	"POC1B"	"MONDO:0005308"	"ciliopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-23 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11979"	"2025-01-17"
"GENCC_000101-HGNC_13711-OMIM_300604-HP_0001417-GENCC_100004"	"HGNC:13711"	"POF1B"	"MONDO:0010373"	"premature ovarian failure 2B"	"OMIM:300604"	"?Premature ovarian failure 2B"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13711"	"POF1B"	"OMIM:300604"	"Premature ovarian failure 2B"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-19 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61865"	"2025-01-17"
"GENCC_000101-HGNC_14988-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:14988"	"POFUT1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14988"	"POFUT1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-25 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11019"	"2025-01-17"
"GENCC_000101-HGNC_22954-OMIM_617232-HP_0000007-GENCC_100003"	"HGNC:22954"	"POGLUT1"	"MONDO:0014977"	"autosomal recessive limb-girdle muscular dystrophy type 2R1"	"OMIM:617232"	"Muscular dystrophy, limb-girdle, autosomal recessive 21"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:22954"	"POGLUT1"	"OMIM:617232"	"Limb-girdle muscular dystrophy 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-02 12:08:32"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42973"	"2025-01-17"
"GENCC_000101-HGNC_9175-OMIM_620836-HP_0000007-GENCC_100004"	"HGNC:9175"	"POLD1"	"MONDO:0970994"	"immunodeficiency 120"	"OMIM:620836"	"Immunodeficiency 120"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9175"	"POLD1"	"OMIM:620836"	"Immunodeficiency 120"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-22 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42199"	"2025-01-17"
"GENCC_000101-HGNC_17264-OMIM_616462-HP_0000006-GENCC_100003"	"HGNC:17264"	"POLR1A"	"MONDO:0014651"	"acrofacial dysostosis Cincinnati type"	"OMIM:616462"	"Acrofacial dysostosis, Cincinnati type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17264"	"POLR1A"	"OMIM:616462"	"Acrofacial dysostosis, Cincinnati type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2016-06-10 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17160"	"2025-01-17"
"GENCC_000101-HGNC_17264-OMIM_620675-HP_0000007-GENCC_100004"	"HGNC:17264"	"POLR1A"	"MONDO:0958018"	"leukodystrophy, hypomyelinating, 27"	"OMIM:620675"	"Leukodystrophy, hypomyelinating, 27"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17264"	"POLR1A"	"OMIM:620675"	"Leukodystrophy, hypomyelinating, 27"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-15 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17160"	"2025-01-17"
"GENCC_000101-HGNC_20454-OMIM_618939-HP_0000006-GENCC_100004"	"HGNC:20454"	"POLR1B"	"MONDO:0030067"	"Treacher Collins syndrome 4"	"OMIM:618939"	"Treacher-Collins syndrome 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20454"	"POLR1B"	"OMIM:618939"	"Treacher-Collins syndrome 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-25 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42490"	"2025-01-17"
"GENCC_000101-HGNC_14121-OMIM_619310-HP_0000007-GENCC_100004"	"HGNC:14121"	"POLR3K"	"MONDO:0030263"	"leukodystrophy, hypomyelinating, 21"	"OMIM:619310"	"Leukodystrophy, hypomyelinating, 21"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14121"	"POLR3K"	"OMIM:619310"	"Leukodystrophy, hypomyelinating, 21"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-31 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11464"	"2025-01-17"
"GENCC_000101-HGNC_9208-OMIM_201750-HP_0000007-GENCC_100001"	"HGNC:9208"	"POR"	"MONDO:0008726"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	"OMIM:201750"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9208"	"POR"	"OMIM:201750"	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-12-10 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65935"	"2025-01-17"
"GENCC_000101-HGNC_17284-OMIM_620367-HP_0000006-GENCC_100004"	"HGNC:17284"	"POT1"	"MONDO:0957263"	"pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8"	"OMIM:620367"	"?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17284"	"POT1"	"OMIM:620367"	"Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-17 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42963"	"2025-01-17"
"GENCC_000101-HGNC_9210-OMIM_613038-HP_0000006-GENCC_100003"	"HGNC:9210"	"POU1F1"	"MONDO:0024464"	"pituitary hormone deficiency, combined, 1"	"OMIM:613038"	"Pituitary hormone deficiency, combined or isolated, 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9210"	"POU1F1"	"OMIM:613038"	"Pituitary hormone deficiency, combined or isolated, 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-04 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13720"	"2025-01-17"
"GENCC_000101-HGNC_28883-OMIM_617222-HP_0000007-GENCC_100001"	"HGNC:28883"	"PPA2"	"MONDO:0014973"	"sudden cardiac failure, infantile"	"OMIM:617222"	"Sudden cardiac failure, infantile"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28883"	"PPA2"	"OMIM:617222"	"Sudden cardiac failure, infantile"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-13 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17017"	"2025-01-17"
"GENCC_000101-HGNC_9247-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:9247"	"PPFIA3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9247"	"PPFIA3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-22 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42062"	"2025-01-17"
"GENCC_000101-HGNC_9255-OMIM_259440-HP_0000007-GENCC_100003"	"HGNC:9255"	"PPIB"	"MONDO:0009805"	"osteogenesis imperfecta type 9"	"OMIM:259440"	"Osteogenesis imperfecta, type IX"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9255"	"PPIB"	"OMIM:259440"	"Osteogenesis imperfecta, type IX"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-12-10 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65951"	"2025-01-17"
"GENCC_000101-HGNC_18838-OMIM_620519-HP_0000007-GENCC_100001"	"HGNC:18838"	"PPP1R13L"	"MONDO:0957795"	"arrhythmogenic cardiomyopathy with variable ectodermal abnormalities"	"OMIM:620519"	"Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18838"	"PPP1R13L"	"OMIM:620519"	"Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-13 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14629"	"2025-01-17"
"GENCC_000101-HGNC_9305-OMIM_604326-HP_0000006-GENCC_100003"	"HGNC:9305"	"PPP2R2B"	"MONDO:0011439"	"spinocerebellar ataxia type 12"	"OMIM:604326"	"Spinocerebellar ataxia 12"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9305"	"PPP2R2B"	"OMIM:604326"	"Spinocerebellar ataxia 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-19 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"62131"	"2025-01-17"
"GENCC_000101-HGNC_13998-MONDO_0007630-HP_0000006-GENCC_100003"	"HGNC:13998"	"PRDM13"	"MONDO:0007630"	"North Carolina macular dystrophy"	"MONDO:0007630"	"North Carolina macular dystrophy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13998"	"PRDM13"	"MONDO:0007630"	"North Carolina macular dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-13 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"19677"	"2025-01-17"
"GENCC_000101-HGNC_20340-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:20340"	"PRICKLE2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20340"	"PRICKLE2"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-07 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42425"	"2025-01-17"
"GENCC_000101-HGNC_9407-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:9407"	"PRKD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9407"	"PRKD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-24 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"62446"	"2025-01-17"
"GENCC_000101-HGNC_9407-MONDO_0000119-HP_0000007-GENCC_100003"	"HGNC:9407"	"PRKD1"	"MONDO:0000119"	"congenital heart defects, multiple types"	"MONDO:0000119"	"congenital heart defects, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9407"	"PRKD1"	"MONDO:0000119"	"congenital heart defects, multiple types"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-23 12:08:33"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74680"	"2025-01-17"
"GENCC_000101-HGNC_9451-OMIM_176860-HP_0000006-GENCC_100001"	"HGNC:9451"	"PROC"	"MONDO:0008316"	"thrombophilia due to protein C deficiency, autosomal dominant"	"OMIM:176860"	"Thrombophilia 3 due to protein C deficiency, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9451"	"PROC"	"OMIM:176860"	"Thrombophilia 3 due to protein C deficiency, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-05-02 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65973"	"2025-01-17"
"GENCC_000101-HGNC_9461-OMIM_105400-HP_0000006-GENCC_100004"	"HGNC:9461"	"PRPH"	"MONDO:0007103"	"amyotrophic lateral sclerosis type 1"	"OMIM:105400"	"{?Amyotrophic lateral sclerosis, susceptibility to}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9461"	"PRPH"	"OMIM:105400"	"Amyotrophic lateral sclerosis, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-08 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65978"	"2025-01-17"
"GENCC_000101-HGNC_9475-OMIM_167800-HP_0000006-GENCC_100001"	"HGNC:9475"	"PRSS1"	"MONDO:0008185"	"hereditary chronic pancreatitis"	"OMIM:167800"	"{Pancreatitis, chronic, protection against}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9475"	"PRSS1"	"OMIM:167800"	"Pancreatitis, hereditary"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-01-04 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65900"	"2025-01-17"
"GENCC_000101-HGNC_30100-OMIM_613736-HP_0000006-GENCC_100002"	"HGNC:30100"	"PSENEN"	"MONDO:0013397"	"acne inversa, familial, 2"	"OMIM:613736"	"Acne inversa, familial, 2, with or without Dowling-Degos disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30100"	"PSENEN"	"OMIM:613736"	"Acne inversa, familial, 2, with or without Dowling-Degos disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-28 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61066"	"2025-01-17"
"GENCC_000101-HGNC_9538-OMIM_620807-HP_0000006-GENCC_100003"	"HGNC:9538"	"PSMB10"	"MONDO:0971001"	"immunodeficiency 121 with autoinflammation"	"OMIM:620807"	"Immunodeficiency 121 with autoinflammation"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9538"	"PSMB10"	"OMIM:620807"	"Immunodeficiency 121 with autoinflammation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-29 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42056"	"2025-01-17"
"GENCC_000101-HGNC_9538-OMIM_619175-HP_0000007-GENCC_100004"	"HGNC:9538"	"PSMB10"	"MONDO:0030924"	"proteasome-associated autoinflammatory syndrome 5"	"OMIM:619175"	"Proteasome-associated autoinflammatory syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9538"	"PSMB10"	"OMIM:619175"	"Proteasome-associated autoinflammatory syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-29 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42059"	"2025-01-17"
"GENCC_000101-HGNC_17928-OMIM_614324-HP_0000007-GENCC_100003"	"HGNC:17928"	"PSMC3IP"	"MONDO:0013689"	"ovarian dysgenesis 3"	"OMIM:614324"	"Ovarian dysgenesis 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17928"	"PSMC3IP"	"OMIM:614324"	"Ovarian dysgenesis 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-27 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61421"	"2025-01-17"
"GENCC_000101-HGNC_9556-MONDO_0100038-HP_0000006-GENCC_100002"	"HGNC:9556"	"PSMD11"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9556"	"PSMD11"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-26 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42107"	"2025-01-17"
"GENCC_000101-HGNC_9585-OMIM_610828-HP_0000006-GENCC_100004"	"HGNC:9585"	"PTCH1"	"MONDO:0012562"	"holoprosencephaly 7"	"OMIM:610828"	"Holoprosencephaly 7"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9585"	"PTCH1"	"OMIM:610828"	"Holoprosencephaly 7"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-04 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65987"	"2025-01-17"
"GENCC_000101-HGNC_9673-OMIM_620484-HP_0000007-GENCC_100004"	"HGNC:9673"	"PTPRJ"	"MONDO:0957578"	"thrombocytopenia 10"	"OMIM:620484"	"Thrombocytopenia 10"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9673"	"PTPRJ"	"OMIM:620484"	"Thrombocytopenia 10"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-19 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42990"	"2025-01-17"
"GENCC_000101-HGNC_9688-OMIM_613327-HP_0000007-GENCC_100002"	"HGNC:9688"	"CAVIN1"	"MONDO:0013225"	"congenital generalized lipodystrophy type 4"	"OMIM:613327"	"Lipodystrophy, congenital generalized, type 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9688"	"PTRF"	"OMIM:613327"	"Lipodystrophy, congenital generalized, type 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-22 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67199"	"2025-01-17"
"GENCC_000101-HGNC_33782-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:33782"	"PTRHD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:33782"	"PTRHD1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-21 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17137"	"2025-01-17"
"GENCC_000101-HGNC_9768-OMIM_615374-HP_0000007-GENCC_100003"	"HGNC:9768"	"RAB28"	"MONDO:0014153"	"cone-rod dystrophy 18"	"OMIM:615374"	"Cone-rod dystrophy 18"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9768"	"RAB28"	"OMIM:615374"	"Cone-rod dystrophy 18"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-15 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42758"	"2025-01-17"
"GENCC_000101-HGNC_9772-OMIM_620923-HP_0000006-GENCC_100003"	"HGNC:9772"	"RAB32"	"MONDO:0975748"	"Parkinson disease 26, autosomal dominant, susceptibility to"	"OMIM:620923"	"{Parkinson disease 26, autosomal dominant, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9772"	"RAB32"	"OMIM:620923"	"Parkinson disease 26, autosomal dominant, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-30 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42150"	"2025-01-17"
"GENCC_000101-HGNC_9774-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:9774"	"RAB35"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9774"	"RAB35"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-22 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42042"	"2025-01-17"
"GENCC_000101-HGNC_9822-MONDO_0005387-HP_0000007-GENCC_100004"	"HGNC:9822"	"RAD51B"	"MONDO:0005387"	"primary ovarian failure"	"MONDO:0005387"	"primary ovarian failure"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9822"	"RAD51B"	"MONDO:0005387"	"primary ovarian failure"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-08 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42073"	"2025-01-17"
"GENCC_000101-HGNC_9857-OMIM_620654-HP_0000006-GENCC_100003"	"HGNC:9857"	"RAP1B"	"MONDO:0958000"	"thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies"	"OMIM:620654"	"Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9857"	"RAP1B"	"OMIM:620654"	"Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-01-08 12:08:34"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42921"	"2025-01-17"
"GENCC_000101-HGNC_9870-OMIM_616140-HP_0000007-GENCC_100003"	"HGNC:9870"	"RARS1"	"MONDO:0014506"	"hypomyelinating leukodystrophy 9"	"OMIM:616140"	"Leukodystrophy, hypomyelinating, 9"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9870"	"RARS"	"OMIM:616140"	"Leukodystrophy, hypomyelinating, 9"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-06 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78197"	"2025-01-17"
"GENCC_000101-HGNC_9906-MONDO_0000119-HP_0000006-GENCC_100002"	"HGNC:9906"	"RBFOX2"	"MONDO:0000119"	"congenital heart defects, multiple types"	"MONDO:0000119"	"congenital heart defects, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9906"	"RBFOX2"	"MONDO:0000119"	"congenital heart defects, multiple types"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-10-28 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"75887"	"2025-01-17"
"GENCC_000101-HGNC_9958-OMIM_267430-HP_0000007-GENCC_100002"	"HGNC:9958"	"REN"	"MONDO:0009970"	"renal tubular dysgenesis of genetic origin"	"OMIM:267430"	"Renal tubular dysgenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9958"	"REN"	"OMIM:267430"	"Renal tubular dysgenesis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-05-10 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65688"	"2025-01-17"
"GENCC_000101-HGNC_25539-OMIM_617784-HP_0000007-GENCC_100004"	"HGNC:25539"	"RFWD3"	"MONDO:0044325"	"Fanconi anemia, complementation group W"	"OMIM:617784"	"?Fanconi anemia, complementation group W"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25539"	"RFWD3"	"OMIM:617784"	"Fanconi anemia, complementation group W"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-08 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11663"	"2025-01-17"
"GENCC_000101-HGNC_9986-MONDO_0008855-HP_0000007-GENCC_100001"	"HGNC:9986"	"RFX5"	"MONDO:0008855"	"MHC class II deficiency"	"MONDO:0008855"	"MHC class II deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9986"	"RFX5"	"MONDO:0008855"	"MHC class II deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-06 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"7526"	"2025-01-17"
"GENCC_000101-HGNC_10006-OMIM_268150-HP_0000007-GENCC_100001"	"HGNC:10006"	"RHAG"	"MONDO:0019107"	"Rh deficiency syndrome"	"OMIM:268150"	"Anemia, hemolytic, Rh-null, regulator type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10006"	"RHAG"	"OMIM:268150"	"Anemia, hemolytic, Rh-null, regulator type"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-10-15 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65833"	"2025-01-17"
"GENCC_000101-HGNC_10006-OMIM_185000-HP_0000006-GENCC_100003"	"HGNC:10006"	"RHAG"	"MONDO:0008493"	"overhydrated hereditary stomatocytosis"	"OMIM:185000"	"Overhydrated hereditary stomatocytosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10006"	"RHAG"	"OMIM:185000"	"Overhydrated hereditary stomatocytosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-10-07 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73060"	"2025-01-17"
"GENCC_000101-HGNC_686-OMIM_618307-HP_0000007-GENCC_100004"	"HGNC:686"	"RHOH"	"MONDO:0032666"	"epidermodysplasia verruciformis, susceptibility to, 4"	"OMIM:618307"	"Immunodeficiency 129"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:686"	"RHOH"	"OMIM:618307"	"Epidermodysplasia verruciformis, susceptibility to, 4"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-31 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"7596"	"2025-01-17"
"GENCC_000101-HGNC_16031-OMIM_620632-HP_0000007-GENCC_100004"	"HGNC:16031"	"RNF31"	"MONDO:0957981"	"immunodeficiency 115 with autoinflammation"	"OMIM:620632"	"Immunodeficiency 115 with autoinflammation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16031"	"RNF31"	"OMIM:620632"	"Immunodeficiency 115 with autoinflammation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-20 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"73294"	"2025-01-17"
"GENCC_000101-HGNC_10257-OMIM_268310-HP_0000007-GENCC_100001"	"HGNC:10257"	"ROR2"	"MONDO:0009999"	"autosomal recessive Robinow syndrome"	"OMIM:268310"	"Robinow syndrome, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10257"	"ROR2"	"OMIM:268310"	"Robinow syndrome, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-20 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65111"	"2025-01-17"
"GENCC_000101-HGNC_10257-OMIM_113000-HP_0000006-GENCC_100001"	"HGNC:10257"	"ROR2"	"MONDO:0007220"	"brachydactyly type B1"	"OMIM:113000"	"Brachydactyly, type B1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10257"	"ROR2"	"OMIM:113000"	"Brachydactyly, type B1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-21 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65114"	"2025-01-17"
"GENCC_000101-HGNC_10263-MONDO_0800399-HP_0000007-GENCC_100001"	"HGNC:10263"	"RP1"	"MONDO:0800399"	"RP1-related recessive retinopathy"	"MONDO:0800399"	"RP1-related recessive retinopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10263"	"RP1"	"MONDO:0800399"	"RP1-related recessive retinopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-01 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"7510"	"2025-01-17"
"GENCC_000101-HGNC_10263-MONDO_0800400-HP_0000006-GENCC_100002"	"HGNC:10263"	"RP1"	"MONDO:0800400"	"RP1-related dominant retinopathy"	"MONDO:0800400"	"RP1-related dominant retinopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10263"	"RP1"	"MONDO:0800400"	"RP1-related dominant retinopathy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-04-01 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42099"	"2025-01-17"
"GENCC_000101-HGNC_10294-OMIM_613794-HP_0000006-GENCC_100004"	"HGNC:10294"	"RPE65"	"MONDO:0013425"	"retinitis pigmentosa 20"	"OMIM:613794"	"Retinitis pigmentosa 20"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10294"	"RPE65"	"OMIM:613794"	"Retinitis pigmentosa 20"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-26 12:08:35"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"68739"	"2025-01-17"
"GENCC_000101-HGNC_10294-OMIM_618697-HP_0000006-GENCC_100004"	"HGNC:10294"	"RPE65"	"MONDO:0032873"	"retinitis pigmentosa 87 with choroidal involvement"	"OMIM:618697"	"Retinitis pigmentosa 87 with choroidal involvement"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10294"	"RPE65"	"OMIM:618697"	"Retinitis pigmentosa 87 with choroidal involvement"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-26 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"68739"	"2025-01-17"
"GENCC_000101-HGNC_17056-MONDO_0100038-HP_0000006-GENCC_100003"	"HGNC:17056"	"RPH3A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17056"	"RPH3A"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-18 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42086"	"2025-01-17"
"GENCC_000101-HGNC_10313-OMIM_615885-HP_0000006-GENCC_100004"	"HGNC:10313"	"RPL21"	"MONDO:0014384"	"hypotrichosis 12"	"OMIM:615885"	"Hypotrichosis 12"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10313"	"RPL21"	"OMIM:615885"	"Hypotrichosis 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-15 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78321"	"2025-01-17"
"GENCC_000101-HGNC_10405-MONDO_0023113-HP_0000006-GENCC_100003"	"HGNC:10405"	"RPS20"	"MONDO:0023113"	"familial colorectal cancer"	"MONDO:0023113"	"familial colorectal cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10405"	"RPS20"	"MONDO:0023113"	"familial colorectal cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-14 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"72583"	"2025-01-17"
"GENCC_000101-HGNC_10405-MONDO_0015253-HP_0000006-GENCC_100004"	"HGNC:10405"	"RPS20"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10405"	"RPS20"	"MONDO:0015253"	"Diamond-Blackfan anemia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-04 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14787"	"2025-01-17"
"GENCC_000101-HGNC_6502-OMIM_271400-HP_0000006-GENCC_100001"	"HGNC:6502"	"RPSA"	"MONDO:0010066"	"familial isolated congenital asplenia"	"OMIM:271400"	"Asplenia, isolated congenital"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:6502"	"RPSA"	"OMIM:271400"	"Asplenia, isolated congenital"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-08-23 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"68197"	"2025-01-17"
"GENCC_000101-HGNC_10449-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:10449"	"RREB1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10449"	"RREB1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-17 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42781"	"2025-01-17"
"GENCC_000101-HGNC_10451-MONDO_0000090-HP_0000007-GENCC_100004"	"HGNC:10451"	"RRM1"	"MONDO:0000090"	"progressive external ophthalmoplegia with mitochondrial DNA deletions"	"MONDO:0000090"	"progressive external ophthalmoplegia with mitochondrial DNA deletions"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10451"	"RRM1"	"MONDO:0000090"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-31 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42978"	"2025-01-17"
"GENCC_000101-HGNC_10451-MONDO_0000090-HP_0000006-GENCC_100004"	"HGNC:10451"	"RRM1"	"MONDO:0000090"	"progressive external ophthalmoplegia with mitochondrial DNA deletions"	"MONDO:0000090"	"progressive external ophthalmoplegia with mitochondrial DNA deletions"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10451"	"RRM1"	"MONDO:0000090"	"Progressive external ophthalmoplegia with mitochondrial DNA deletions"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-31 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42976"	"2025-01-17"
"GENCC_000101-HGNC_10468-OMIM_620854-HP_0000007-GENCC_100002"	"HGNC:10468"	"RTN2"	"MONDO:0971150"	"neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity"	"OMIM:620854"	"Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10468"	"RTN2"	"OMIM:620854"	"Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-10-29 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42130"	"2025-01-17"
"GENCC_000101-HGNC_25394-OMIM_620762-HP_0000007-GENCC_100003"	"HGNC:25394"	"SAMD7"	"MONDO:0958326"	"macular dystrophy with or without cone dysfunction"	"OMIM:620762"	"Macular dystrophy with or without cone dysfunction"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25394"	"SAMD7"	"OMIM:620762"	"Macular dystrophy with or without cone dysfunction"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-24 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42162"	"2025-01-17"
"GENCC_000101-HGNC_10541-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:10541"	"SATB1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10541"	"SATB1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-10-08 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11479"	"2025-01-17"
"GENCC_000101-HGNC_1665-OMIM_254900-HP_0000007-GENCC_100001"	"HGNC:1665"	"SCARB2"	"MONDO:0009699"	"action myoclonus-renal failure syndrome"	"OMIM:254900"	"Epilepsy, progressive myoclonic 4, with or without renal failure"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:1665"	"SCARB2"	"OMIM:254900"	"Epilepsy, progressive myoclonic 4, with or without renal failure"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2023-11-16 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92719"	"2025-01-17"
"GENCC_000101-HGNC_10600-OMIM_620125-HP_0000007-GENCC_100001"	"HGNC:10600"	"SCNN1B"	"MONDO:0859317"	"pseudohypoaldosteronism, type IB2, autosomal recessive"	"OMIM:620125"	"Pseudohypoaldosteronism, type IB2, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10600"	"SCNN1B"	"OMIM:620125"	"Pseudohypoaldosteronism, type IB2, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-05 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65236"	"2025-01-17"
"GENCC_000101-HGNC_10600-OMIM_211400-HP_0032113-GENCC_100004"	"HGNC:10600"	"SCNN1B"	"MONDO:0008887"	"bronchiectasis with or without elevated sweat chloride 1"	"OMIM:211400"	"Bronchiectasis with or without elevated sweat chloride 1"	"GENCC:100004"	"Limited"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10600"	"SCNN1B"	"OMIM:211400"	"Bronchiectasis with or without elevated sweat chloride 1"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-10 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65239"	"2025-01-17"
"GENCC_000101-HGNC_10600-OMIM_177200-HP_0000006-GENCC_100001"	"HGNC:10600"	"SCNN1B"	"MONDO:0020607"	"Liddle syndrome 1"	"OMIM:177200"	"Liddle syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10600"	"SCNN1B"	"OMIM:177200"	"Liddle syndrome 1"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-05 12:08:36"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65230"	"2025-01-17"
"GENCC_000101-HGNC_10680-OMIM_613642-HP_0000007-GENCC_100004"	"HGNC:10680"	"SDHA"	"MONDO:0013339"	"dilated cardiomyopathy 1GG"	"OMIM:613642"	"Cardiomyopathy, dilated, 1GG"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10680"	"SDHA"	"OMIM:613642"	"Cardiomyopathy, dilated, 1GG"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-01 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"68311"	"2025-01-17"
"GENCC_000101-HGNC_10723-MONDO_0019042-HP_0000007-GENCC_100003"	"HGNC:10723"	"SEMA3A"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10723"	"SEMA3A"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-18 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"66202"	"2025-01-17"
"GENCC_000101-HGNC_10723-OMIM_614897-HP_0000006-GENCC_100004"	"HGNC:10723"	"SEMA3A"	"MONDO:0013961"	"hypogonadotropic hypogonadism 16 with or without anosmia"	"OMIM:614897"	"{Hypogonadotropic hypogonadism 16 with or without anosmia}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10723"	"SEMA3A"	"OMIM:614897"	"Hypogonadotropic hypogonadism 16 with or without anosmia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-20 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64210"	"2025-01-17"
"GENCC_000101-HGNC_10727-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:10727"	"SEMA3E"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10727"	"SEMA3E"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-18 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13433"	"2025-01-17"
"GENCC_000101-HGNC_775-OMIM_613118-HP_0000006-GENCC_100001"	"HGNC:775"	"SERPINC1"	"MONDO:0013144"	"hereditary antithrombin deficiency"	"OMIM:613118"	"Thrombophilia 7 due to antithrombin III deficiency"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:775"	"SERPINC1"	"OMIM:613118"	"Thrombophilia 7 due to antithrombin III deficiency"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-27 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"92436"	"2025-01-17"
"GENCC_000101-HGNC_9075-OMIM_262850-HP_0000007-GENCC_100001"	"HGNC:9075"	"SERPINF2"	"MONDO:0009883"	"alpha-2-plasmin inhibitor deficiency"	"OMIM:262850"	"Alpha-2-plasmin inhibitor deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9075"	"SERPINF2"	"OMIM:262850"	"Alpha-2-plasmin inhibitor deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-09-30 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"65095"	"2025-01-17"
"GENCC_000101-HGNC_10799-OMIM_178500-HP_0000006-GENCC_100003"	"HGNC:10799"	"SFTPA2"	"MONDO:0800029"	"interstitial lung disease 2"	"OMIM:178500"	"{Pulmonary fibrosis, idiopathic, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10799"	"SFTPA2"	"OMIM:178500"	"Interstitial lung disease 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-05-07 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1834"	"2025-01-17"
"GENCC_000101-HGNC_29605-MONDO_0004967-HP_0000007-GENCC_100003"	"HGNC:29605"	"SH2B3"	"MONDO:0004967"	"acute lymphoblastic leukemia"	"MONDO:0004967"	"acute lymphoblastic leukemia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29605"	"SH2B3"	"MONDO:0004967"	"Acute lymphoblastic leukemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-01-09 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15039"	"2025-01-17"
"GENCC_000101-HGNC_10830-MONDO_0021094-HP_0000007-GENCC_100004"	"HGNC:10830"	"SH3GL1"	"MONDO:0021094"	"immunodeficiency disease"	"MONDO:0021094"	"immunodeficiency disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10830"	"SH3GL1"	"MONDO:0021094"	"immunodeficiency disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-19 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42468"	"2025-01-17"
"GENCC_000101-HGNC_13867-OMIM_300310-HP_0001417-GENCC_100004"	"HGNC:13867"	"SH3KBP1"	"MONDO:0010296"	"immunodeficiency 61"	"OMIM:300310"	"?Immunodeficiency 61"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13867"	"SH3KBP1"	"OMIM:300310"	"Immunodeficiency 61"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-19 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42757"	"2025-01-17"
"GENCC_000101-HGNC_25321-OMIM_620795-HP_0000007-GENCC_100004"	"HGNC:25321"	"SHARPIN"	"MONDO:0968982"	"autoinflammation with episodic fever and immune dysregulation"	"OMIM:620795"	"Autoinflammation with episodic fever and immune dysregulation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25321"	"SHARPIN"	"OMIM:620795"	"Autoinflammation with episodic fever and immune dysregulation"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-25 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42152"	"2025-01-17"
"GENCC_000101-HGNC_25543-OMIM_619922-HP_0000007-GENCC_100002"	"HGNC:25543"	"SHQ1"	"MONDO:0859258"	"neurodevelopmental disorder with dystonia and seizures"	"OMIM:619922"	"Neurodevelopmental disorder with dystonia and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25543"	"SHQ1"	"OMIM:619922"	"Neurodevelopmental disorder with dystonia and seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-04-30 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11990"	"2025-01-17"
"GENCC_000101-HGNC_29215-MONDO_0100038-HP_0001417-GENCC_100004"	"HGNC:29215"	"SHROOM4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29215"	"SHROOM4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-18 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1603"	"2025-01-17"
"GENCC_000101-HGNC_17435-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:17435"	"SLC12A9"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17435"	"SLC12A9"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-30 12:08:37"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42057"	"2025-01-17"
"GENCC_000101-HGNC_10939-OMIM_222730-HP_0000007-GENCC_100004"	"HGNC:10939"	"SLC1A1"	"MONDO:0009110"	"dicarboxylic aminoaciduria"	"OMIM:222730"	"Dicarboxylic aminoaciduria"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10939"	"SLC1A1"	"OMIM:222730"	"Dicarboxylic aminoaciduria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-05 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74147"	"2025-01-17"
"GENCC_000101-HGNC_10942-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:10942"	"SLC1A4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10942"	"SLC1A4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-08 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42482"	"2025-01-17"
"GENCC_000101-HGNC_13446-OMIM_612076-HP_0000006-GENCC_100003"	"HGNC:13446"	"SLC2A9"	"MONDO:0012793"	"hypouricemia, renal, 2"	"OMIM:612076"	"Hypouricemia, renal, 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13446"	"SLC2A9"	"OMIM:612076"	"Hypouricemia, renal, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-04 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42072"	"2025-01-17"
"GENCC_000101-HGNC_19089-MONDO_0005021-HP_0000007-GENCC_100004"	"HGNC:19089"	"SLC30A5"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19089"	"SLC30A5"	"MONDO:0005021"	"dilated cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-03 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42039"	"2025-01-17"
"GENCC_000101-HGNC_20305-OMIM_241530-HP_0032113-GENCC_100001"	"HGNC:20305"	"SLC34A3"	"MONDO:0009431"	"hereditary hypophosphatemic rickets with hypercalciuria"	"OMIM:241530"	"Hypophosphatemic rickets with hypercalciuria"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20305"	"SLC34A3"	"OMIM:241530"	"Hypophosphatemic rickets with hypercalciuria"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-07-10 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"67562"	"2025-01-17"
"GENCC_000101-HGNC_10909-OMIM_606069-HP_0000006-GENCC_100001"	"HGNC:10909"	"SLC40A1"	"MONDO:0011631"	"hemochromatosis type 4"	"OMIM:606069"	"Hemochromatosis, type 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10909"	"SLC40A1"	"OMIM:606069"	"Hemochromatosis, type 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-01-24 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61139"	"2025-01-17"
"GENCC_000101-HGNC_11037-OMIM_233100-HP_0000007-GENCC_100001"	"HGNC:11037"	"SLC5A2"	"MONDO:0009297"	"familial renal glucosuria"	"OMIM:233100"	"Renal glucosuria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11037"	"SLC5A2"	"OMIM:233100"	"Renal glucosuria"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-02 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64330"	"2025-01-17"
"GENCC_000101-HGNC_11037-OMIM_233100-HP_0000006-GENCC_100003"	"HGNC:11037"	"SLC5A2"	"MONDO:0009297"	"familial renal glucosuria"	"OMIM:233100"	"Renal glucosuria"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11037"	"SLC5A2"	"OMIM:233100"	"Renal glucosuria"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-02 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42002"	"2025-01-17"
"GENCC_000101-HGNC_13449-OMIM_301107-HP_0001417-GENCC_100004"	"HGNC:13449"	"SLITRK2"	"MONDO:0957203"	"intellectual developmental disorder, X-linked 111"	"OMIM:301107"	"Intellectual developmental disorder, X-linked 111"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13449"	"SLITRK2"	"OMIM:301107"	"Intellectual developmental disorder, X-linked 111"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-26 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42277"	"2025-01-17"
"GENCC_000101-HGNC_23501-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:23501"	"SLITRK3"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23501"	"SLITRK3"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-12 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42709"	"2025-01-17"
"GENCC_000101-HGNC_23501-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:23501"	"SLITRK3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23501"	"SLITRK3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-12 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42700"	"2025-01-17"
"GENCC_000101-HGNC_18746-OMIM_248300-HP_0000007-GENCC_100002"	"HGNC:18746"	"SLURP1"	"MONDO:0009552"	"mal de Meleda"	"OMIM:248300"	"Meleda disease"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18746"	"SLURP1"	"OMIM:248300"	"Meleda disease"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-08-31 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61949"	"2025-01-17"
"GENCC_000101-HGNC_11104-OMIM_620241-HP_0000006-GENCC_100003"	"HGNC:11104"	"SMARCC1"	"MONDO:0859376"	"hydrocephalus, congenital, 5, susceptibility to"	"OMIM:620241"	"{Hydrocephalus, congenital, 5, susceptibility to}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11104"	"SMARCC1"	"OMIM:620241"	"Hydrocephalus, congenital, 5, susceptibility to"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-05 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11185"	"2025-01-17"
"GENCC_000101-HGNC_17028-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:17028"	"SNF8"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17028"	"SNF8"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-12 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42065"	"2025-01-17"
"GENCC_000101-HGNC_11153-OMIM_117650-HP_0000006-GENCC_100002"	"HGNC:11153"	"SNRPB"	"MONDO:0007301"	"cerebrocostomandibular syndrome"	"OMIM:117650"	"Cerebrocostomandibular syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11153"	"SNRPB"	"OMIM:117650"	"Cerebrocostomandibular syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-06-06 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"77379"	"2025-01-17"
"GENCC_000101-HGNC_14245-OMIM_620793-HP_0000007-GENCC_100001"	"HGNC:14245"	"SNUPN"	"MONDO:0971171"	"muscular dystrophy, limb-girdle, autosomal recessive 29"	"OMIM:620793"	"Muscular dystrophy, limb-girdle, autosomal recessive 29"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14245"	"SNUPN"	"OMIM:620793"	"Muscular dystrophy, limb-girdle, autosomal recessive 29"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-09-30 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42159"	"2025-01-17"
"GENCC_000101-HGNC_11188-OMIM_616559-HP_0000006-GENCC_100001"	"HGNC:11188"	"SOS2"	"MONDO:0014691"	"Noonan syndrome 9"	"OMIM:616559"	"Noonan syndrome 9"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11188"	"SOS2"	"OMIM:616559"	"Noonan syndrome 9"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-10-08 12:08:38"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74328"	"2025-01-17"
"GENCC_000101-HGNC_11194-OMIM_607823-HP_0000007-GENCC_100004"	"HGNC:11194"	"SOX18"	"MONDO:0011914"	"hypotrichosis-lymphedema-telangiectasia syndrome"	"OMIM:607823"	"Hypotrichosis-lymphedema-telangiectasia syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11194"	"SOX18"	"OMIM:607823"	"Hypotrichosis-lymphedema-telangiectasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-05 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61704"	"2025-01-17"
"GENCC_000101-HGNC_11194-OMIM_137940-HP_0000006-GENCC_100003"	"HGNC:11194"	"SOX18"	"MONDO:0019073"	"hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"OMIM:137940"	"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11194"	"SOX18"	"OMIM:137940"	"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-05 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42930"	"2025-01-17"
"GENCC_000101-HGNC_11200-MONDO_0004981-HP_0000006-GENCC_100004"	"HGNC:11200"	"SOX4"	"MONDO:0004981"	"atrial fibrillation"	"MONDO:0004981"	"atrial fibrillation"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11200"	"SOX4"	"MONDO:0004981"	"atrial fibrillation"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-06 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42471"	"2025-01-17"
"GENCC_000101-HGNC_30705-MONDO_0005047-HP_0000007-GENCC_100003"	"HGNC:30705"	"SPATA22"	"MONDO:0005047"	"infertility disorder"	"MONDO:0005047"	"infertility disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30705"	"SPATA22"	"MONDO:0005047"	"infertility disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-27 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42406"	"2025-01-17"
"GENCC_000101-HGNC_16901-OMIM_615959-HP_0000007-GENCC_100001"	"HGNC:16901"	"SPEG"	"MONDO:0014418"	"myopathy, centronuclear, 5"	"OMIM:615959"	"Centronuclear myopathy 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16901"	"SPEG"	"OMIM:615959"	"Centronuclear myopathy 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-06-10 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78204"	"2025-01-17"
"GENCC_000101-HGNC_26933-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:26933"	"SPOUT1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26933"	"SPOUT1"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-01 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17101"	"2025-01-17"
"GENCC_000101-HGNC_11272-OMIM_270970-HP_0000007-GENCC_100002"	"HGNC:11272"	"SPTA1"	"MONDO:0010053"	"hereditary spherocytosis type 3"	"OMIM:270970"	"Spherocytosis, type 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11272"	"SPTA1"	"OMIM:270970"	"Spherocytosis, type 3"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-26 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1172"	"2025-01-17"
"GENCC_000101-HGNC_11272-OMIM_266140-HP_0000007-GENCC_100003"	"HGNC:11272"	"SPTA1"	"MONDO:0009948"	"pyropoikilocytosis, hereditary"	"OMIM:266140"	"Pyropoikilocytosis"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11272"	"SPTA1"	"OMIM:266140"	"Pyropoikilocytosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-26 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1176"	"2025-01-17"
"GENCC_000101-HGNC_11272-OMIM_130600-HP_0000006-GENCC_100003"	"HGNC:11272"	"SPTA1"	"MONDO:0007533"	"elliptocytosis 2"	"OMIM:130600"	"Elliptocytosis-2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11272"	"SPTA1"	"OMIM:130600"	"Elliptocytosis-2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-26 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1170"	"2025-01-17"
"GENCC_000101-HGNC_11302-OMIM_620534-HP_0000007-GENCC_100004"	"HGNC:11302"	"SRP68"	"MONDO:0957809"	"neutropenia, severe congenital, 10, autosomal recessive"	"OMIM:620534"	"?Neutropenia, severe congenital, 10, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11302"	"SRP68"	"OMIM:620534"	"Neutropenia, severe congenital, 10, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2023-11-27 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42642"	"2025-01-17"
"GENCC_000101-HGNC_10780-OMIM_620489-HP_0000006-GENCC_100002"	"HGNC:10780"	"SRSF1"	"MONDO:0957583"	"neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"	"OMIM:620489"	"Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:10780"	"SRSF1"	"OMIM:620489"	"Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-03 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"13569"	"2025-01-17"
"GENCC_000101-HGNC_17209-OMIM_619436-HP_0000007-GENCC_100004"	"HGNC:17209"	"STK36"	"MONDO:0030332"	"ciliary dyskinesia, primary, 46"	"OMIM:619436"	"?Ciliary dyskinesia, primary, 46"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17209"	"STK36"	"OMIM:619436"	"Ciliary dyskinesia, primary, 46"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-10 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17347"	"2025-01-17"
"GENCC_000101-HGNC_11445-OMIM_613101-HP_0000006-GENCC_100004"	"HGNC:11445"	"STXBP2"	"MONDO:0013135"	"familial hemophagocytic lymphohistiocytosis 5"	"OMIM:613101"	"Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11445"	"STXBP2"	"OMIM:613101"	"Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-22 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42993"	"2025-01-17"
"GENCC_000101-HGNC_16001-OMIM_231690-HP_0000007-GENCC_100003"	"HGNC:16001"	"SUGCT"	"MONDO:0009283"	"glutaric acidemia type 3"	"OMIM:231690"	"Glutaric aciduria III"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16001"	"SUGCT"	"OMIM:231690"	"Glutaric aciduria III"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-10 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61800"	"2025-01-17"
"GENCC_000101-HGNC_20566-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:20566"	"SV2A"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20566"	"SV2A"	"MONDO:0005027"	"epilepsy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-29 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71036"	"2025-01-17"
"GENCC_000101-HGNC_20566-OMIM_620772-HP_0000007-GENCC_100004"	"HGNC:20566"	"SV2A"	"MONDO:0958330"	"developmental and epileptic encephalopathy 113"	"OMIM:620772"	"Developmental and epileptic encephalopathy 113"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:20566"	"SV2A"	"OMIM:620772"	"Developmental and epileptic encephalopathy 113"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-29 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"16476"	"2025-01-17"
"GENCC_000101-HGNC_18130-OMIM_270960-HP_0000006-GENCC_100004"	"HGNC:18130"	"SYCP3"	"MONDO:0010052"	"spermatogenic failure 4"	"OMIM:270960"	"Spermatogenic failure 4"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18130"	"SYCP3"	"OMIM:270960"	"Spermatogenic failure 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-31 12:08:39"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1410"	"2025-01-17"
"GENCC_000101-HGNC_17075-OMIM_614980-HP_0000006-GENCC_100001"	"HGNC:17075"	"TAB2"	"MONDO:0014000"	"congenital heart defects, multiple types, 2"	"OMIM:614980"	"Congenital heart defects, nonsyndromic, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17075"	"TAB2"	"OMIM:614980"	"Congenital heart defects, nonsyndromic, 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-02-26 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18983"	"2025-01-17"
"GENCC_000101-HGNC_11521-OMIM_614839-HP_0000007-GENCC_100002"	"HGNC:11521"	"TAC3"	"MONDO:0013912"	"hypogonadotropic hypogonadism 10 with or without anosmia"	"OMIM:614839"	"Hypogonadotropic hypogonadism 10 with or without anosmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11521"	"TAC3"	"OMIM:614839"	"Hypogonadotropic hypogonadism 10 with or without anosmia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-10 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64542"	"2025-01-17"
"GENCC_000101-HGNC_11530-OMIM_204870-HP_0000007-GENCC_100001"	"HGNC:11530"	"TACSTD2"	"MONDO:0008777"	"gelatinous drop-like corneal dystrophy"	"OMIM:204870"	"Corneal dystrophy, gelatinous drop-like"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11530"	"TACSTD2"	"OMIM:204870"	"Corneal dystrophy, gelatinous drop-like"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-09-03 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"1450"	"2025-01-17"
"GENCC_000101-HGNC_11535-OMIM_300966-HP_0001417-GENCC_100002"	"HGNC:11535"	"TAF1"	"MONDO:0010500"	"intellectual disability, X-linked, syndromic 33"	"OMIM:300966"	"Intellectual developmental disorder, X-linked syndromic 33"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11535"	"TAF1"	"OMIM:300966"	"Intellectual developmental disorder, X-linked syndromic 33"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-21 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74939"	"2025-01-17"
"GENCC_000101-HGNC_11535-OMIM_314250-HP_0001417-GENCC_100002"	"HGNC:11535"	"TAF1"	"MONDO:0010747"	"X-linked dystonia-parkinsonism"	"OMIM:314250"	"Dystonia-Parkinsonism, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11535"	"TAF1"	"OMIM:314250"	"Dystonia-Parkinsonism, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-20 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42464"	"2025-01-17"
"GENCC_000101-HGNC_11578-MONDO_0019719-HP_0000006-GENCC_100004"	"HGNC:11578"	"TBC1D1"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11578"	"TBC1D1"	"MONDO:0019719"	"congenital anomaly of kidney and urinary tract"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-05 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"75273"	"2025-01-17"
"GENCC_000101-HGNC_29203-OMIM_616044-HP_0000006-GENCC_100003"	"HGNC:29203"	"TBC1D24"	"MONDO:0014470"	"autosomal dominant nonsyndromic hearing loss 65"	"OMIM:616044"	"Deafness, autosomal dominant 65"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29203"	"TBC1D24"	"OMIM:616044"	"Deafness, autosomal dominant 65"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-22 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78349"	"2025-01-17"
"GENCC_000101-HGNC_11584-OMIM_620880-HP_0000007-GENCC_100004"	"HGNC:11584"	"TBK1"	"MONDO:0971173"	"autoinflammation with arthritis and vasculitis"	"OMIM:620880"	"Autoinflammation with arthritis and vasculitis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11584"	"TBK1"	"OMIM:620880"	"Autoinflammation with arthritis and vasculitis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-11 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42116"	"2025-01-17"
"GENCC_000101-HGNC_11588-OMIM_607136-HP_0000006-GENCC_100002"	"HGNC:11588"	"TBP"	"MONDO:0011781"	"spinocerebellar ataxia type 17"	"OMIM:607136"	"Spinocerebellar ataxia 17"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11588"	"TBP"	"OMIM:607136"	"Spinocerebellar ataxia 17"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-14 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64505"	"2025-01-17"
"GENCC_000101-HGNC_11603-OMIM_147891-HP_0000006-GENCC_100002"	"HGNC:11603"	"TBX4"	"MONDO:0007841"	"coxopodopatellar syndrome"	"OMIM:147891"	"Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11603"	"TBX4"	"OMIM:147891"	"Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-12 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"12368"	"2025-01-17"
"GENCC_000101-HGNC_11603-OMIM_601360-HP_0000007-GENCC_100003"	"HGNC:11603"	"TBX4"	"MONDO:0011054"	"autosomal recessive amelia"	"OMIM:601360"	"Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11603"	"TBX4"	"OMIM:601360"	"Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-22 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42745"	"2025-01-17"
"GENCC_000101-HGNC_11655-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:11655"	"TCP1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11655"	"TCP1"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-11-25 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42496"	"2025-01-17"
"GENCC_000101-HGNC_26223-OMIM_620451-HP_0000007-GENCC_100004"	"HGNC:26223"	"TEFM"	"MONDO:0957537"	"combined oxidative phosphorylation deficiency 58"	"OMIM:620451"	"Combined oxidative phosphorylation deficiency 58"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:26223"	"TEFM"	"OMIM:620451"	"Combined oxidative phosphorylation deficiency 58"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-21 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42085"	"2025-01-17"
"GENCC_000101-HGNC_11764-MONDO_0002108-HP_0000006-GENCC_100004"	"HGNC:11764"	"TG"	"MONDO:0002108"	"thyroid cancer"	"MONDO:0002108"	"thyroid cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11764"	"TG"	"MONDO:0002108"	"Thyroid cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-10-31 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"69742"	"2025-01-17"
"GENCC_000101-HGNC_11782-OMIM_605407-HP_0000007-GENCC_100001"	"HGNC:11782"	"TH"	"MONDO:0011551"	"TH-deficient dopa-responsive dystonia"	"OMIM:605407"	"Segawa syndrome, recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11782"	"TH"	"OMIM:605407"	"Segawa syndrome, recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-07-08 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64452"	"2025-01-17"
"GENCC_000101-HGNC_11786-OMIM_620865-HP_0000006-GENCC_100004"	"HGNC:11786"	"THBS2"	"MONDO:0971044"	"Ehlers-Danlos syndrome, classic-like, 3"	"OMIM:620865"	"?Ehlers-Danlos syndrome, classic-like, 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11786"	"THBS2"	"OMIM:620865"	"Ehlers-Danlos syndrome, classic-like, 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-02 12:08:40"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42181"	"2025-01-17"
"GENCC_000101-HGNC_11822-OMIM_136900-HP_0000006-GENCC_100002"	"HGNC:11822"	"TIMP3"	"MONDO:0007640"	"Sorsby fundus dystrophy"	"OMIM:136900"	"Sorsby fundus dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11822"	"TIMP3"	"OMIM:136900"	"Sorsby fundus dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-16 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64442"	"2025-01-17"
"GENCC_000101-HGNC_16513-OMIM_606705-HP_0000006-GENCC_100003"	"HGNC:16513"	"TMC1"	"MONDO:0011708"	"autosomal dominant nonsyndromic hearing loss 36"	"OMIM:606705"	"Deafness, autosomal dominant 36"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16513"	"TMC1"	"OMIM:606705"	"Deafness, autosomal dominant 36"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-11 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"4286"	"2025-01-17"
"GENCC_000101-HGNC_16513-OMIM_600974-HP_0000007-GENCC_100001"	"HGNC:16513"	"TMC1"	"MONDO:0010967"	"autosomal recessive nonsyndromic hearing loss 7"	"OMIM:600974"	"Deafness, autosomal recessive 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16513"	"TMC1"	"OMIM:600974"	"Deafness, autosomal recessive 7"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-07 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42022"	"2025-01-17"
"GENCC_000101-HGNC_18021-OMIM_226400-HP_0000007-GENCC_100002"	"HGNC:18021"	"TMC6"	"MONDO:0100045"	"epidermodysplasia verruciformis, susceptibility to, 1"	"OMIM:226400"	"{Epidermodysplasia verruciformis, susceptibility to, 1}"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18021"	"TMC6"	"OMIM:226400"	"Epidermodysplasia verruciformis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-01-10 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42969"	"2025-01-17"
"GENCC_000101-HGNC_25984-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:25984"	"TMEM104"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25984"	"TMEM104"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-28 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42098"	"2025-01-17"
"GENCC_000101-HGNC_15876-MONDO_0005180-HP_0000006-GENCC_100004"	"HGNC:15876"	"TMEM230"	"MONDO:0005180"	"Parkinson disease"	"MONDO:0005180"	"Parkinson disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:15876"	"TMEM230"	"MONDO:0005180"	"Parkinson disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-19 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"18235"	"2025-01-17"
"GENCC_000101-HGNC_30079-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:30079"	"TMPRSS9"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30079"	"TMPRSS9"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-26 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42158"	"2025-01-17"
"GENCC_000101-HGNC_11908-OMIM_602080-HP_0000006-GENCC_100003"	"HGNC:11908"	"TNFRSF11A"	"MONDO:0011183"	"Paget disease of bone 2, early-onset"	"OMIM:602080"	"{Paget disease of bone 2, early-onset}"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11908"	"TNFRSF11A"	"OMIM:602080"	"Paget disease of bone 2, early-onset"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-07-02 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42716"	"2025-01-17"
"GENCC_000101-HGNC_18153-OMIM_240500-HP_0000007-GENCC_100002"	"HGNC:18153"	"TNFRSF13B"	"MONDO:0009413"	"immunodeficiency, common variable, 2"	"OMIM:240500"	"Immunodeficiency, common variable, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:18153"	"TNFRSF13B"	"OMIM:240500"	"Immunodeficiency, common variable, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-04-22 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61572"	"2025-01-17"
"GENCC_000101-HGNC_11949-MONDO_0004994-HP_0000007-GENCC_100004"	"HGNC:11949"	"TNNT2"	"MONDO:0004994"	"cardiomyopathy"	"MONDO:0004994"	"cardiomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11949"	"TNNT2"	"MONDO:0004994"	"Cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-07 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42035"	"2025-01-17"
"GENCC_000101-HGNC_21648-OMIM_620601-HP_0000007-GENCC_100004"	"HGNC:21648"	"TOMM7"	"MONDO:0957953"	"Garg-Mishra progeroid syndrome"	"OMIM:620601"	"Garg-Mishra progeroid syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:21648"	"TOMM7"	"OMIM:620601"	"Garg-Mishra progeroid syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-30 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42764"	"2025-01-17"
"GENCC_000101-HGNC_11985-MONDO_0000732-HP_0000007-GENCC_100004"	"HGNC:11985"	"TOMM70"	"MONDO:0000732"	"combined oxidative phosphorylation deficiency"	"MONDO:0000732"	"combined oxidative phosphorylation deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11985"	"TOMM70"	"MONDO:0000732"	"combined oxidative phosphorylation deficiency"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-02-21 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42947"	"2025-01-17"
"GENCC_000101-HGNC_11990-OMIM_609296-HP_0000006-GENCC_100002"	"HGNC:11990"	"TOP2B"	"MONDO:0012243"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"OMIM:609296"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11990"	"TOP2B"	"OMIM:609296"	"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-13 12:08:41"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17514"	"2025-01-17"
"GENCC_000101-HGNC_11998-OMIM_114500-HP_0000006-GENCC_100003"	"HGNC:11998"	"TP53"	"MONDO:0005575"	"colorectal cancer"	"OMIM:114500"	"Colorectal cancer, somatic"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:11998"	"TP53"	"OMIM:114500"	"Colorectal cancer"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-03 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42179"	"2025-01-17"
"GENCC_000101-HGNC_24259-OMIM_617731-HP_0000007-GENCC_100004"	"HGNC:24259"	"TPRKB"	"MONDO:0033009"	"Galloway-Mowat syndrome 5"	"OMIM:617731"	"Galloway-Mowat syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:24259"	"TPRKB"	"OMIM:617731"	"Galloway-Mowat syndrome 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-10 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11871"	"2025-01-17"
"GENCC_000101-HGNC_16007-MONDO_0005045-HP_0000007-GENCC_100003"	"HGNC:16007"	"TRIM63"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:16007"	"TRIM63"	"MONDO:0005045"	"hypertrophic cardiomyopathy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-03-08 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11494"	"2025-01-17"
"GENCC_000101-HGNC_3145-MONDO_0007748-HP_0000007-GENCC_100004"	"HGNC:3145"	"TRPV5"	"MONDO:0007748"	"hypercalciuria, absorptive, 2"	"MONDO:0007748"	"hypercalciuria, absorptive, 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:3145"	"TRPV5"	"MONDO:0007748"	"hypercalciuria, absorptive, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-26 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42408"	"2025-01-17"
"GENCC_000101-HGNC_14006-MONDO_0004982-HP_0000006-GENCC_100003"	"HGNC:14006"	"TRPV6"	"MONDO:0004982"	"pancreatitis"	"MONDO:0004982"	"pancreatitis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:14006"	"TRPV6"	"MONDO:0004982"	"pancreatitis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-01-30 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42904"	"2025-01-17"
"GENCC_000101-HGNC_12363-OMIM_613254-HP_0000006-GENCC_100001"	"HGNC:12363"	"TSC2"	"MONDO:0013199"	"tuberous sclerosis 2"	"OMIM:613254"	"Tuberous sclerosis-2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12363"	"TSC2"	"OMIM:613254"	"Tuberous sclerosis-2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-05-16 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64139"	"2025-01-17"
"GENCC_000101-HGNC_25660-OMIM_613820-HP_0000006-GENCC_100004"	"HGNC:25660"	"TTC21B"	"MONDO:0013442"	"nephronophthisis 12"	"OMIM:613820"	"Nephronophthisis 12"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:25660"	"TTC21B"	"OMIM:613820"	"Nephronophthisis 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-01-22 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"60720"	"2025-01-17"
"GENCC_000101-HGNC_12422-OMIM_620415-HP_0000007-GENCC_100003"	"HGNC:12422"	"TUFT1"	"MONDO:0957307"	"woolly hair-skin fragility syndrome"	"OMIM:620415"	"Woolly hair-skin fragility syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12422"	"TUFT1"	"OMIM:620415"	"Woolly hair-skin fragility syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-12-12 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42651"	"2025-01-17"
"GENCC_000101-HGNC_23156-OMIM_620535-HP_0000006-GENCC_100002"	"HGNC:23156"	"U2AF2"	"MONDO:0957810"	"developmental delay, dysmorphic facies, and brain anomalies"	"OMIM:620535"	"Developmental delay, dysmorphic facies, and brain anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:23156"	"U2AF2"	"OMIM:620535"	"Developmental delay, dysmorphic facies, and brain anomalies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-01-10 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15540"	"2025-01-17"
"GENCC_000101-HGNC_40028-MONDO_0019118-HP_0000007-GENCC_100001"	"HGNC:40028"	"UBAP1L"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:40028"	"UBAP1L"	"MONDO:0019118"	"inherited retinal dystrophy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-12-09 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42049"	"2025-01-17"
"GENCC_000101-HGNC_40028-MONDO_0004580-HP_0000007-GENCC_100003"	"HGNC:40028"	"UBAP1L"	"MONDO:0004580"	"retinal degeneration"	"MONDO:0004580"	"retinal degeneration"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:40028"	"UBAP1L"	"MONDO:0004580"	"retinal degeneration"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-04-23 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42049"	"2025-01-17"
"GENCC_000101-HGNC_29877-OMIM_620494-HP_0000006-GENCC_100001"	"HGNC:29877"	"UBAP2L"	"MONDO:0957588"	"neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies"	"OMIM:620494"	"Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29877"	"UBAP2L"	"OMIM:620494"	"Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-05-22 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42768"	"2025-01-17"
"GENCC_000101-HGNC_12472-OMIM_300860-HP_0001417-GENCC_100002"	"HGNC:12472"	"UBE2A"	"MONDO:0010461"	"syndromic X-linked intellectual disability Nascimento type"	"OMIM:300860"	"Intellectual developmental disorder, X-linked syndromic, Nascimento type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12472"	"UBE2A"	"OMIM:300860"	"Intellectual developmental disorder, X-linked syndromic, Nascimento type"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-01-19 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64179"	"2025-01-17"
"GENCC_000101-HGNC_30791-OMIM_121800-HP_0000006-GENCC_100002"	"HGNC:30791"	"UBIAD1"	"MONDO:0007374"	"Schnyder corneal dystrophy"	"OMIM:121800"	"Corneal dystrophy, Schnyder type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:30791"	"UBIAD1"	"OMIM:121800"	"Corneal dystrophy, Schnyder type"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-09-25 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78948"	"2025-01-17"
"GENCC_000101-HGNC_12509-OMIM_300857-HP_0001417-GENCC_100003"	"HGNC:12509"	"UBQLN2"	"MONDO:0010459"	"amyotrophic lateral sclerosis type 15"	"OMIM:300857"	"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12509"	"UBQLN2"	"OMIM:300857"	"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-30 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61134"	"2025-01-17"
"GENCC_000101-HGNC_12511-OMIM_617672-HP_0000006-GENCC_100002"	"HGNC:12511"	"UBTF"	"MONDO:0044701"	"childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"	"OMIM:617672"	"Neurodegeneration, childhood-onset, with brain atrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12511"	"UBTF"	"OMIM:617672"	"Neurodegeneration, childhood-onset, with brain atrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-07-25 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17358"	"2025-01-17"
"GENCC_000101-HGNC_12572-OMIM_608106-HP_0000007-GENCC_100003"	"HGNC:12572"	"UNG"	"MONDO:0011971"	"hyper-IgM syndrome type 5"	"OMIM:608106"	"Immunodeficiency with hyper IgM, type 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12572"	"UNG"	"OMIM:608106"	"Immunodeficiency with hyper IgM, type 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-17 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"4029"	"2025-01-17"
"GENCC_000101-HGNC_9962-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:9962"	"UPF1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:9962"	"UPF1"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-12-05 12:08:42"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42470"	"2025-01-17"
"GENCC_000101-HGNC_12586-OMIM_615160-HP_0000007-GENCC_100003"	"HGNC:12586"	"UQCRC2"	"MONDO:0014066"	"mitochondrial complex III deficiency nuclear type 5"	"OMIM:615160"	"Mitochondrial complex III deficiency, nuclear type 5"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12586"	"UQCRC2"	"OMIM:615160"	"Mitochondrial complex III deficiency, nuclear type 5"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-06-20 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78352"	"2025-01-17"
"GENCC_000101-HGNC_12591-MONDO_0100498-HP_0032113-GENCC_100001"	"HGNC:12591"	"UROD"	"MONDO:0100498"	"UROD-related inherited porphyria"	"MONDO:0100498"	"UROD-related inherited porphyria"	"GENCC:100001"	"Definitive"	"HP:0032113"	"Semidominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12591"	"UROD"	"MONDO:0100498"	"UROD-related inherited porphyria"	"HP:0032113"	"Semi-dominant mode of inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-07-15 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"4084"	"2025-01-17"
"GENCC_000101-HGNC_13486-OMIM_300984-HP_0001417-GENCC_100002"	"HGNC:13486"	"USP27X"	"MONDO:0010510"	"intellectual disability, X-linked 105"	"OMIM:300984"	"Intellectual developmental disorder, X-linked 105"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13486"	"USP27X"	"OMIM:300984"	"Intellectual developmental disorder, X-linked 105"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-03-21 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71822"	"2025-01-17"
"GENCC_000101-HGNC_12631-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:12631"	"USP8"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12631"	"USP8"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-24 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11436"	"2025-01-17"
"GENCC_000101-HGNC_12631-MONDO_0019064-HP_0000007-GENCC_100004"	"HGNC:12631"	"USP8"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12631"	"USP8"	"MONDO:0019064"	"hereditary spastic paraplegia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-09-24 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42143"	"2025-01-17"
"GENCC_000101-HGNC_17729-MONDO_0018230-HP_0000006-GENCC_100004"	"HGNC:17729"	"UXS1"	"MONDO:0018230"	"skeletal dysplasia"	"MONDO:0018230"	"skeletal dysplasia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:17729"	"UXS1"	"MONDO:0018230"	"skeletal dysplasia"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-08-23 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42194"	"2025-01-17"
"GENCC_000101-HGNC_12660-OMIM_614402-HP_0000007-GENCC_100004"	"HGNC:12660"	"VAX1"	"MONDO:0013734"	"microphthalmia, syndromic 11"	"OMIM:614402"	"?Microphthalmia, syndromic 11"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12660"	"VAX1"	"OMIM:614402"	"Microphthalmia, syndromic 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-30 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61352"	"2025-01-17"
"GENCC_000101-HGNC_12666-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:12666"	"VCP"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12666"	"VCP"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-03-05 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42937"	"2025-01-17"
"GENCC_000101-HGNC_12713-OMIM_619389-HP_0000007-GENCC_100003"	"HGNC:12713"	"VPS41"	"MONDO:0030312"	"spinocerebellar ataxia, autosomal recessive 29"	"OMIM:619389"	"Spinocerebellar ataxia, autosomal recessive 29"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12713"	"VPS41"	"OMIM:619389"	"Spinocerebellar ataxia, autosomal recessive 29"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2023-11-17 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"15187"	"2025-01-17"
"GENCC_000101-HGNC_29323-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:29323"	"WDFY4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29323"	"WDFY4"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-28 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42063"	"2025-01-17"
"GENCC_000101-HGNC_12774-OMIM_615221-HP_0000006-GENCC_100004"	"HGNC:12774"	"WNT1"	"MONDO:0019409"	"idiopathic juvenile osteoporosis"	"OMIM:615221"	"{Osteoporosis, early-onset, susceptibility to, autosomal dominant}"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12774"	"WNT1"	"OMIM:615221"	"Osteoporosis, early-onset, susceptibility to, autosomal dominant"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-06-12 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42706"	"2025-01-17"
"GENCC_000101-HGNC_12787-MONDO_0019042-HP_0000007-GENCC_100004"	"HGNC:12787"	"WNT7B"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12787"	"WNT7B"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-05 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42076"	"2025-01-17"
"GENCC_000101-HGNC_19222-MONDO_0100038-HP_0000007-GENCC_100004"	"HGNC:19222"	"WSB2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19222"	"WSB2"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-03-28 12:08:43"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42096"	"2025-01-17"
"GENCC_000101-HGNC_28052-OMIM_613159-HP_0000007-GENCC_100003"	"HGNC:28052"	"XPNPEP3"	"MONDO:0013163"	"nephronophthisis-like nephropathy 1"	"OMIM:613159"	"Nephronophthisis-like nephropathy 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:28052"	"XPNPEP3"	"OMIM:613159"	"Nephronophthisis-like nephropathy 1"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-01-30 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"61645"	"2025-01-17"
"GENCC_000101-HGNC_12851-MONDO_0100038-HP_0000006-GENCC_100004"	"HGNC:12851"	"YWHAE"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12851"	"YWHAE"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-25 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"17349"	"2025-01-17"
"GENCC_000101-HGNC_777-MONDO_0100038-HP_0000006-GENCC_100001"	"HGNC:777"	"ZFHX3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:777"	"ZFHX3"	"MONDO:0100038"	"complex neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-04-23 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71073"	"2025-01-17"
"GENCC_000101-HGNC_777-MONDO_0005027-HP_0000007-GENCC_100004"	"HGNC:777"	"ZFHX3"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:777"	"ZFHX3"	"MONDO:0005027"	"epilepsy"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-05-01 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42055"	"2025-01-17"
"GENCC_000101-HGNC_777-OMIM_600223-HP_0000006-GENCC_100003"	"HGNC:777"	"ZFHX3"	"MONDO:0010847"	"spinocerebellar ataxia type 4"	"OMIM:600223"	"Spinocerebellar ataxia 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:777"	"ZFHX3"	"OMIM:600223"	"Spinocerebellar ataxia 4"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-06 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42905"	"2025-01-17"
"GENCC_000101-HGNC_12869-OMIM_301118-HP_0001417-GENCC_100004"	"HGNC:12869"	"ZFX"	"MONDO:0958322"	"intellectual developmental disorder, x-linked, syndromic 37"	"OMIM:301118"	"Intellectual developmental disorder, X-linked syndromic 37"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12869"	"ZFX"	"OMIM:301118"	"Intellectual developmental disorder, X-linked syndromic 37"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-04-17 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42014"	"2025-01-17"
"GENCC_000101-HGNC_12872-OMIM_618736-HP_0000006-GENCC_100003"	"HGNC:12872"	"ZIC1"	"MONDO:0032892"	"structural brain anomalies with impaired intellectual development and craniosynostosis"	"OMIM:618736"	"Structural brain anomalies with impaired intellectual development and craniosynostosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12872"	"ZIC1"	"OMIM:618736"	"Structural brain anomalies with impaired intellectual development and craniosynostosis"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-02-20 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"74760"	"2025-01-17"
"GENCC_000101-HGNC_19904-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:19904"	"ZNF407"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19904"	"ZNF407"	"MONDO:0700092"	"neurodevelopmental disorder"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-07 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"78907"	"2025-01-17"
"GENCC_000101-HGNC_19904-MONDO_0859198-HP_0000007-GENCC_100004"	"HGNC:19904"	"ZNF407"	"MONDO:0859198"	"short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies"	"MONDO:0859198"	"short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:19904"	"ZNF407"	"MONDO:0859198"	"short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-07 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"14095"	"2025-01-17"
"GENCC_000101-HGNC_29415-OMIM_619877-HP_0000007-GENCC_100003"	"HGNC:29415"	"ZNF526"	"MONDO:0859251"	"Dentici-Novelli neurodevelopmental syndrome"	"OMIM:619877"	"Dentici-Novelli neurodevelopmental syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:29415"	"ZNF526"	"OMIM:619877"	"Dentici-Novelli neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-08-28 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"71808"	"2025-01-17"
"GENCC_000101-HGNC_13128-OMIM_300803-HP_0001417-GENCC_100002"	"HGNC:13128"	"ZNF711"	"MONDO:0010430"	"intellectual disability, X-linked 97"	"OMIM:300803"	"Intellectual developmental disorder, X-linked 97"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13128"	"ZNF711"	"OMIM:300803"	"Intellectual developmental disorder, X-linked 97"	"HP:0001417"	"X-linked inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100002"	"Strong"	"2024-04-02 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"64771"	"2025-01-17"
"GENCC_000101-HGNC_12309-MONDO_0017771-HP_0000006-GENCC_100004"	"HGNC:12309"	"ZNHIT3"	"MONDO:0017771"	"Mayer-Rokitansky-Kuster-Hauser syndrome"	"MONDO:0017771"	"Mayer-Rokitansky-Kuster-Hauser syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12309"	"ZNHIT3"	"MONDO:0017771"	"Mayer-Rokitansky-Kuster-Hauser syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-07-03 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42713"	"2025-01-17"
"GENCC_000101-HGNC_13188-MONDO_0032696-HP_0000007-GENCC_100001"	"HGNC:13188"	"ZP2"	"MONDO:0032696"	"oocyte maturation defect 6"	"MONDO:0032696"	"oocyte maturation defect 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13188"	"ZP2"	"MONDO:0032696"	"oocyte maturation defect 6"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100001"	"Definitive"	"2024-11-20 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42469"	"2025-01-17"
"GENCC_000101-HGNC_13188-MONDO_0014769-HP_0000006-GENCC_100003"	"HGNC:13188"	"ZP2"	"MONDO:0014769"	"inherited oocyte maturation defect"	"MONDO:0014769"	"inherited oocyte maturation defect"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13188"	"ZP2"	"MONDO:0014769"	"inherited oocyte maturation defect"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-20 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42461"	"2025-01-17"
"GENCC_000101-HGNC_13189-MONDO_0021574-HP_0000006-GENCC_100003"	"HGNC:13189"	"ZP3"	"MONDO:0021574"	"oocyte maturation defect 3"	"MONDO:0021574"	"oocyte maturation defect 3"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13189"	"ZP3"	"MONDO:0021574"	"oocyte maturation defect 3"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-11-21 12:08:44"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"11814"	"2025-01-17"
"GENCC_000101-HGNC_13189-MONDO_0014769-HP_0000007-GENCC_100004"	"HGNC:13189"	"ZP3"	"MONDO:0014769"	"inherited oocyte maturation defect"	"MONDO:0014769"	"inherited oocyte maturation defect"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:13189"	"ZP3"	"MONDO:0014769"	"inherited oocyte maturation defect"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100004"	"Limited"	"2024-11-21 12:08:45"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42463"	"2025-01-17"
"GENCC_000101-HGNC_12997-OMIM_620910-HP_0000007-GENCC_100003"	"HGNC:12997"	"ZSCAN10"	"MONDO:0975705"	"otofacial neurodevelopmental syndrome"	"OMIM:620910"	"Otofacial neurodevelopmental syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000101"	"Ambry Genetics"	"HGNC:12997"	"ZSCAN10"	"OMIM:620910"	"Otofacial neurodevelopmental syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000101"	"Ambry Genetics"	"GENCC:100003"	"Moderate"	"2024-09-04 12:08:45"	""	""	""	"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655771/"	"42171"	"2025-01-17"
"GENCC_000112-HGNC_25662-OMIM_148600-HP_0000006-GENCC_100001"	"HGNC:25662"	"AAGAB"	"MONDO:0007858"	"palmoplantar keratoderma, punctate type 1A"	"OMIM:148600"	"Keratoderma, palmoplantar, punctate type IA"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25662"	"AAGAB"	"OMIM:148600"	"AAGAB-related Palmoplantar keratoderma, punctate type IA"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5235"	""	"33914963;34535911;31526046"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205235"	"2025-01-17"
"GENCC_000112-HGNC_20-OMIM_616339-HP_0000007-GENCC_100002"	"HGNC:20"	"AARS1"	"MONDO:0014593"	"developmental and epileptic encephalopathy, 29"	"OMIM:616339"	"Developmental and epileptic encephalopathy 29"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20"	"AARS1"	"OMIM:616339"	"AARS1-related early-onset epileptic encephalopathy with persistent myelination defect"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=990"	""	"34446925;25817015"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200990"	"2025-01-17"
"GENCC_000112-HGNC_23-OMIM_613163-HP_0000007-GENCC_100001"	"HGNC:23"	"ABAT"	"MONDO:0013166"	"GABA aminotransaminase deficiency"	"OMIM:613163"	"GABA-transaminase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23"	"ABAT"	"OMIM:613163"	"ABAT-related GABA-transaminase deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-07-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4519"	""	"27376954;27903293;28411234"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204519"	"2025-01-17"
"GENCC_000112-HGNC_14637-OMIM_242500-HP_0000007-GENCC_100001"	"HGNC:14637"	"ABCA12"	"MONDO:0009443"	"autosomal recessive congenital ichthyosis 4B"	"OMIM:242500"	"Ichthyosis, congenital, autosomal recessive 4B (harlequin)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14637"	"ABCA12"	"OMIM:242500"	"ABCA12-related ichthyosis harlequin"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4189"	""	"12915478;16007253;15756637"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204189"	"2025-01-17"
"GENCC_000112-HGNC_34-OMIM_604116-HP_0000007-GENCC_100001"	"HGNC:34"	"ABCA4"	"MONDO:0011395"	"cone-rod dystrophy 3"	"OMIM:604116"	"Cone-rod dystrophy 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:34"	"ABCA4"	"OMIM:604116"	"ABCA4-related cone-rod dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2460"	""	"18285826;12515255;28446513;9490294;9425888;10746567;10958763;9054934;9466990;9070931;10958761;9781034;10874631;9973280;9503029"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202460"	"2025-01-17"
"GENCC_000112-HGNC_35-OMIM_135400-HP_0000007-GENCC_100004"	"HGNC:35"	"ABCA5"	"MONDO:0007610"	"gingival fibromatosis-hypertrichosis syndrome"	"OMIM:135400"	"?Hypertrichosis, congenital generalized, with gingival hyperplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:35"	"ABCA5"	"OMIM:135400"	"ABCA5-related Hypertrichosis, congenital generalised, with gingival hyperplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5247"	""	"24831815"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205247"	"2025-01-17"
"GENCC_000112-HGNC_13886-OMIM_618666-HP_0000007-GENCC_100001"	"HGNC:13886"	"ABCG5"	"MONDO:0020748"	"sitosterolemia 2"	"OMIM:618666"	"Sitosterolemia 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13886"	"ABCG5"	"OMIM:618666"	"ABCG5-related sitosterolemia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3887"	""	"11138003;11099417;1350991"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203887"	"2025-01-17"
"GENCC_000112-HGNC_15868-MONDO_0012984-HP_0000007-GENCC_100001"	"HGNC:15868"	"ABHD12"	"MONDO:0012984"	"PHARC syndrome"	"MONDO:0012984"	"PHARC syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15868"	"ABHD12"	"MONDO:0012984"	"ABHD12-related PHARC"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2461"	""	"24027063;24697911;28448692;27890673;20797687;22938382"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202461"	"2025-01-17"
"GENCC_000112-HGNC_23339-OMIM_620785-HP_0000007-GENCC_100004"	"HGNC:23339"	"ACBD6"	"MONDO:0968976"	"neurodevelopmental disorder with progressive movement abnormalities"	"OMIM:620785"	"Neurodevelopmental disorder with progressive movement abnormalities"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23339"	"ACBD6"	"OMIM:620785"	"ACBD6-related intellectual developmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=914"	""	"21937992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200914"	"2025-01-17"
"GENCC_000112-HGNC_25070-OMIM_616553-HP_0000006-GENCC_100003"	"HGNC:25070"	"ACD"	"MONDO:0014690"	"dyskeratosis congenita, autosomal dominant 6"	"OMIM:616553"	"?Dyskeratosis congenita, autosomal dominant 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25070"	"ACD"	"OMIM:616553"	"ACD-related dyskeratosis congenita"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4947"	""	"25205116;25233904"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204947"	"2025-01-17"
"GENCC_000112-HGNC_144-MONDO_0001476-HP_0000006-GENCC_100004"	"HGNC:144"	"ACTG1"	"MONDO:0001476"	"coloboma"	"MONDO:0001476"	"coloboma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:144"	"ACTG1"	"MONDO:0001476"	"ACTG1-related Isolated ocular coloboma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2724"	""	"28493397"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202724"	"2025-01-17"
"GENCC_000112-HGNC_175-OMIM_600376-HP_0000006-GENCC_100001"	"HGNC:175"	"ACVRL1"	"MONDO:0010880"	"telangiectasia, hereditary hemorrhagic, type 2"	"OMIM:600376"	"Telangiectasia, hereditary hemorrhagic, type 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:175"	"ACVRL1"	"OMIM:600376"	"ACVRL1-related hereditary haemorrhagic telangiectasia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3879"	""	"8640225"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203879"	"2025-01-17"
"GENCC_000112-HGNC_195-OMIM_614328-HP_0000007-GENCC_100001"	"HGNC:195"	"ADAM17"	"MONDO:0013693"	"inflammatory skin and bowel disease, neonatal, 1"	"OMIM:614328"	"?Inflammatory skin and bowel disease, neonatal, 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:195"	"ADAM17"	"OMIM:614328"	"ADAM17-related Inflammatory skin and bowel disease, neonatal, 1"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5230"	""	"33953303;34993966"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205230"	"2025-01-17"
"GENCC_000112-HGNC_201-OMIM_617933-HP_0000007-GENCC_100002"	"HGNC:201"	"ADAM22"	"MONDO:0033370"	"developmental and epileptic encephalopathy, 61"	"OMIM:617933"	"Developmental and epileptic encephalopathy 61"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:201"	"ADAM22"	"OMIM:617933"	"ADAM22-associated developmental and epileptic encephalopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-09-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4917"	""	"35373813"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204917"	"2025-01-17"
"GENCC_000112-HGNC_216-OMIM_612775-HP_0000007-GENCC_100001"	"HGNC:216"	"ADAM9"	"MONDO:0013002"	"cone-rod dystrophy 9"	"OMIM:612775"	"Cone-rod dystrophy 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:216"	"ADAM9"	"OMIM:612775"	"ADAM9-related cone-rod dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2421"	""	"25546566;19409519;25091951"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202421"	"2025-01-17"
"GENCC_000112-HGNC_218-MONDO_0009161-HP_0000007-GENCC_100001"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"MONDO:0009161"	"Ehlers-Danlos syndrome, dermatosparaxis type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:218"	"ADAMTS2"	"MONDO:0009161"	"ADAMTS2-related Dermatosparaxis Ehlers Danlos syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3846"	""	"10417273"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203846"	"2025-01-17"
"GENCC_000112-HGNC_14631-MONDO_0009269-HP_0000007-GENCC_100001"	"HGNC:14631"	"ADAMTSL2"	"MONDO:0009269"	"geleophysic dysplasia 1"	"MONDO:0009269"	"geleophysic dysplasia 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14631"	"ADAMTSL2"	"MONDO:0009269"	"ADAMTSL2-related GELEOPHYSIC DYSPLASIA 1"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-11-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4355"	""	"21415077;18677313"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204355"	"2025-01-17"
"GENCC_000112-HGNC_19706-MONDO_0009152-HP_0000007-GENCC_100001"	"HGNC:19706"	"ADAMTSL4"	"MONDO:0009152"	"ectopia lentis 2, isolated, autosomal recessive"	"MONDO:0009152"	"ectopia lentis 2, isolated, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19706"	"ADAMTSL4"	"MONDO:0009152"	"ADAMTSL4-related Ectopia lentis, isolated, autosomal recessive"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2465"	""	"23426735;21051722;25975359;20702823;22736615;19200529"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202465"	"2025-01-17"
"GENCC_000112-HGNC_226-OMIM_618862-HP_0000007-GENCC_100004"	"HGNC:226"	"ADARB1"	"MONDO:0030025"	"neurodevelopmental disorder with hypotonia, microcephaly, and seizures"	"OMIM:618862"	"Neurodevelopmental disorder with hypotonia, microcephaly, and seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:226"	"ADARB1"	"OMIM:618862"	"ADARB1-related microcephaly, intellectual disability, and seizures"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-04-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4478"	""	"32220291"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204478"	"2025-01-17"
"GENCC_000112-HGNC_3337-OMIM_125630-HP_0000006-GENCC_100004"	"HGNC:3337"	"ADGRE2"	"MONDO:0007447"	"autosomal dominant vibratory urticaria"	"OMIM:125630"	"Vibratory urticaria"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3337"	"ADGRE2"	"OMIM:125630"	"ADGRE2-related Vibratory urticaria"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5258"	""	"27406365;26841242"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205258"	"2025-01-17"
"GENCC_000112-HGNC_17416-OMIM_605472-HP_0000007-GENCC_100002"	"HGNC:17416"	"ADGRV1"	"MONDO:0011558"	"Usher syndrome type 2C"	"OMIM:605472"	"Usher syndrome, type IIC, GPR98/PDZD7 digenic"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17416"	"ADGRV1"	"OMIM:605472"	"ADGRV1-related Usher syndrome, type 2C"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2470"	""	"19357116;14740321;19357117"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202470"	"2025-01-17"
"GENCC_000112-HGNC_21304-OMIM_618170-HP_0000007-GENCC_100002"	"HGNC:21304"	"ADPRS"	"MONDO:0100095"	"neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"	"OMIM:618170"	"Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21304"	"ADPRS"	"OMIM:618170"	"ADPRS-related neurodegeneration with developmental delay ataxia and axonal neuropathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4051"	""	"30388405;30401461"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204051"	"2025-01-17"
"GENCC_000112-HGNC_303-OMIM_618000-HP_0000007-GENCC_100003"	"HGNC:303"	"AEBP1"	"MONDO:0054813"	"Ehlers-Danlos syndrome, classic-like, 2"	"OMIM:618000"	"Ehlers-Danlos syndrome, classic-like, 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:303"	"AEBP1"	"OMIM:618000"	"AEBP1-related Ehlers-Danlos syndrome, classic-like, 2"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5259"	""	"30759870"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205259"	"2025-01-17"
"GENCC_000112-HGNC_6473-OMIM_619297-HP_0000006-GENCC_100002"	"HGNC:6473"	"AFF3"	"MONDO:0851095"	"KINSSHIP syndrome"	"OMIM:619297"	"KINSSHIP syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6473"	"AFF3"	"OMIM:619297"	"AFF3-related KINSSHIP syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2523"	""	"33961779;36576140;38811945"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202523"	"2025-01-17"
"GENCC_000112-HGNC_6473-MONDO_0001071-HP_0000006-GENCC_100003"	"HGNC:6473"	"AFF3"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6473"	"AFF3"	"MONDO:0001071"	"AFF3-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5209"	""	"38811945"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205209"	"2025-01-17"
"GENCC_000112-HGNC_17869-OMIM_620568-HP_0000006-GENCC_100001"	"HGNC:17869"	"AFF4"	"MONDO:0957921"	"Cornelia de Lange syndrome 6"	"OMIM:620568"	"Cornelia de Lange syndrome 6"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17869"	"AFF4"	"OMIM:620568"	"AFF4-related CORNELIA DE LANGE-LIKE SYNDROME"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1779"	""	"25730767"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201779"	"2025-01-17"
"GENCC_000112-HGNC_28762-OMIM_619616-HP_0000007-GENCC_100003"	"HGNC:28762"	"AFG2B"	"MONDO:0859206"	"neurodevelopmental disorder with hearing loss and spasticity"	"OMIM:619616"	"Neurodevelopmental disorder with hearing loss and spasticity"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28762"	"AFG2B"	"OMIM:619616"	"AFG2B-related sensorineural hearing loss and intellectual disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2021-11-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4791"	""	"34626583"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204791"	"2025-01-17"
"GENCC_000112-HGNC_26504-OMIM_615523-HP_0000006-GENCC_100004"	"HGNC:26504"	"AGBL1"	"MONDO:0014228"	"corneal dystrophy, Fuchs endothelial, 8"	"OMIM:615523"	"Corneal dystrophy, Fuchs endothelial, 8"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:26504"	"AGBL1"	"OMIM:615523"	"AGBL1-related late-onset Fuchs corneal dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-06-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2530"	""	"24094747"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202530"	"2025-01-17"
"GENCC_000112-HGNC_26147-OMIM_617023-HP_0000007-GENCC_100002"	"HGNC:26147"	"AGBL5"	"MONDO:0014871"	"retinitis pigmentosa 75"	"OMIM:617023"	"Retinitis pigmentosa 75"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26147"	"AGBL5"	"OMIM:617023"	"AGBL5-related retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-10 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2473"	""	"27842159;27764769;26720455"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202473"	"2025-01-17"
"GENCC_000112-HGNC_3262-OMIM_620292-HP_0000006-GENCC_100002"	"HGNC:3262"	"AGO1"	"MONDO:0859531"	"neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"	"OMIM:620292"	"Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3262"	"AGO1"	"OMIM:620292"	"AGO1-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4381"	""	"35060114"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204381"	"2025-01-17"
"GENCC_000112-HGNC_325-OMIM_608594-HP_0000007-GENCC_100001"	"HGNC:325"	"AGPAT2"	"MONDO:0012071"	"congenital generalized lipodystrophy type 1"	"OMIM:608594"	"Lipodystrophy, congenital generalized, type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:325"	"AGPAT2"	"OMIM:608594"	"AGPAT2-related lipodystrophy, congenital generalised"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4112"	""	"11967537"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204112"	"2025-01-17"
"GENCC_000112-HGNC_348-OMIM_618345-HP_0000007-GENCC_100004"	"HGNC:348"	"AHR"	"MONDO:0032689"	"retinitis pigmentosa 85"	"OMIM:618345"	"?Retinitis pigmentosa 85"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:348"	"AHR"	"OMIM:618345"	"AHR-related retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-05-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3750"	""	"29726989"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203750"	"2025-01-17"
"GENCC_000112-HGNC_358-MONDO_0007052-HP_0000006-GENCC_100001"	"HGNC:358"	"AIP"	"MONDO:0007052"	"growth hormone secreting pituitary adenoma 1"	"MONDO:0007052"	"growth hormone secreting pituitary adenoma 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:358"	"AIP"	"MONDO:0007052"	"AIP-related Pituitary adenoma predisposition"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4952"	""	"17244780;17360484;16728643"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204952"	"2025-01-17"
"GENCC_000112-HGNC_23437-MONDO_0005129-HP_0000007-GENCC_100004"	"HGNC:23437"	"AKR1E2"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23437"	"AKR1E2"	"MONDO:0005129"	"AKR1E2-related Congenital cataract"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2662"	""	"22935719"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202662"	"2025-01-17"
"GENCC_000112-HGNC_15472-OMIM_620025-HP_0000007-GENCC_100002"	"HGNC:15472"	"ALDH1A2"	"MONDO:0859571"	"diaphragmatic hernia 4, with cardiovascular defects"	"OMIM:620025"	"Diaphragmatic hernia 4, with cardiovascular defects"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15472"	"ALDH1A2"	"OMIM:620025"	"ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4739"	""	"33565183"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204739"	"2025-01-17"
"GENCC_000112-HGNC_409-MONDO_0016764-HP_0000007-GENCC_100001"	"HGNC:409"	"ALDH1A3"	"MONDO:0016764"	"isolated anophthalmia-microphthalmia syndrome"	"MONDO:0016764"	"isolated anophthalmia-microphthalmia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:409"	"ALDH1A3"	"MONDO:0016764"	"ALDH1A3-related ANOPHTHALMIA/MICROPHTHALMIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1317"	""	"24568872;23646827;24777706;23312594;24024553;26873617;23591992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201317"	"2025-01-17"
"GENCC_000112-HGNC_427-MONDO_0013083-HP_0000006-GENCC_100001"	"HGNC:427"	"ALK"	"MONDO:0013083"	"neuroblastoma, susceptibility to, 3"	"MONDO:0013083"	"neuroblastoma, susceptibility to, 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:427"	"ALK"	"MONDO:0013083"	"ALK-related neuroblastoma, susceptibility to"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4950"	""	"18724359"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204950"	"2025-01-17"
"GENCC_000112-HGNC_430-MONDO_0009439-HP_0000007-GENCC_100001"	"HGNC:430"	"ALOX12B"	"MONDO:0009439"	"autosomal recessive congenital ichthyosis 2"	"MONDO:0009439"	"autosomal recessive congenital ichthyosis 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:430"	"ALOX12B"	"MONDO:0009439"	"ALOX12B-related Congenital ichthyosis type 2"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4182"	""	"17139268;11773004"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204182"	"2025-01-17"
"GENCC_000112-HGNC_13743-MONDO_0011680-HP_0000007-GENCC_100001"	"HGNC:13743"	"ALOXE3"	"MONDO:0011680"	"autosomal recessive congenital ichthyosis 3"	"MONDO:0011680"	"autosomal recessive congenital ichthyosis 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13743"	"ALOXE3"	"MONDO:0011680"	"ALOXE3-related Congenital ichthyosis type 3"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4183"	""	"11773004;16116617"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204183"	"2025-01-17"
"GENCC_000112-HGNC_20917-MONDO_0013999-HP_0000006-GENCC_100002"	"HGNC:20917"	"ALPK1"	"MONDO:0013999"	"retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome"	"MONDO:0013999"	"retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20917"	"ALPK1"	"MONDO:0013999"	"ALPK1-related ROSAH syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-05-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4079"	""	"30967659"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204079"	"2025-01-17"
"GENCC_000112-HGNC_17574-MONDO_0054838-HP_0000006-GENCC_100002"	"HGNC:17574"	"ALPK3"	"MONDO:0054838"	"cardiomyopathy, familial hypertrophic 27"	"MONDO:0054838"	"cardiomyopathy, familial hypertrophic 27"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17574"	"ALPK3"	"MONDO:0054838"	"ALPK3-related HCM"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-04-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4871"	""	"34263907;21441111;33191771;34263911;32480058;31074094;27106955;26846950"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204871"	"2025-01-17"
"GENCC_000112-HGNC_17574-MONDO_0054838-HP_0000007-GENCC_100002"	"HGNC:17574"	"ALPK3"	"MONDO:0054838"	"cardiomyopathy, familial hypertrophic 27"	"MONDO:0054838"	"cardiomyopathy, familial hypertrophic 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17574"	"ALPK3"	"MONDO:0054838"	"ALPK3-related HCM"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-04-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4872"	""	"34263907;21441111;33191771;34263911;32480058;31074094;27106955;26846950"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204872"	"2025-01-17"
"GENCC_000112-HGNC_463-OMIM_620379-HP_0000007-GENCC_100003"	"HGNC:463"	"AMFR"	"MONDO:0957274"	"spastic paraplegia 89, autosomal recessive"	"OMIM:620379"	"Spastic paraplegia 89, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:463"	"AMFR"	"OMIM:620379"	"AMFR-related spastic paraplegia with or without neurodevelopmental delay"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-02-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5128"	""	"37119330"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205128"	"2025-01-17"
"GENCC_000112-HGNC_17811-MONDO_0971064-HP_0000006-GENCC_100003"	"HGNC:17811"	"AMOTL1"	"MONDO:0971064"	"orofacial clefting-cardiac anomalies-facial dysmorphism syndrome"	"MONDO:0971064"	"orofacial clefting-cardiac anomalies-facial dysmorphism syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17811"	"AMOTL1"	"MONDO:0971064"	"AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-03-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5022"	""	"36751037"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205022"	"2025-01-17"
"GENCC_000112-HGNC_469-OMIM_615809-HP_0000007-GENCC_100001"	"HGNC:469"	"AMPD2"	"MONDO:0014351"	"pontocerebellar hypoplasia type 9"	"OMIM:615809"	"Pontocerebellar hypoplasia, type 9"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:469"	"AMPD2"	"OMIM:615809"	"AMPD2-related pontocerebellar hypoplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=547"	""	"23911318"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200547"	"2025-01-17"
"GENCC_000112-HGNC_19988-MONDO_0016368-HP_0000007-GENCC_100001"	"HGNC:19988"	"ANAPC1"	"MONDO:0016368"	"Rothmund-Thomson syndrome type 1"	"MONDO:0016368"	"Rothmund-Thomson syndrome type 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19988"	"ANAPC1"	"MONDO:0016368"	"ANAPC1-related Rothmund-Thomson syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4099"	""	"31303264"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204099"	"2025-01-17"
"GENCC_000112-HGNC_485-MONDO_0009369-HP_0000007-GENCC_100004"	"HGNC:485"	"ANGPT2"	"MONDO:0009369"	"non-immune hydrops fetalis"	"MONDO:0009369"	"non-immune hydrops fetalis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:485"	"ANGPT2"	"MONDO:0009369"	"ANGPT2-related non-immune hydrops fetalis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-12-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5094"	""	"34876502"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205094"	"2025-01-17"
"GENCC_000112-HGNC_493-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:493"	"ANK2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:493"	"ANK2"	"MONDO:0700092"	"ANK2-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4454"	""	"28191889;25356970;22542183;30755392"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204454"	"2025-01-17"
"GENCC_000112-HGNC_23575-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:23575"	"ANKRD17"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:23575"	"ANKRD17"	"MONDO:0700092"	"ANKRD17-associated neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4705"	""	"33909992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204705"	"2025-01-17"
"GENCC_000112-HGNC_21625-OMIM_620045-HP_0000007-GENCC_100004"	"HGNC:21625"	"ANO1"	"MONDO:0859289"	"intestinal dysmotility syndrome"	"OMIM:620045"	"?Intestinal dysmotility syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21625"	"ANO1"	"OMIM:620045"	"ANO1-associated intestinal disease"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-04-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4698"	""	"32487539"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204698"	"2025-01-17"
"GENCC_000112-HGNC_14004-OMIM_615034-HP_0000006-GENCC_100004"	"HGNC:14004"	"ANO3"	"MONDO:0014019"	"dystonia 24"	"OMIM:615034"	"Dystonia 24"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14004"	"ANO3"	"OMIM:615034"	"ANO3-related dystonia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2024-10-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5197"	""	"33502045;38079528"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205197"	"2025-01-17"
"GENCC_000112-HGNC_21732-MONDO_0016071-HP_0000007-GENCC_100001"	"HGNC:21732"	"ANTXR2"	"MONDO:0016071"	"juvenile hyaline fibromatosis"	"MONDO:0016071"	"juvenile hyaline fibromatosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21732"	"ANTXR2"	"MONDO:0016071"	"ANTXR2-related Juvenile hyaline fibromatosis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4198"	""	"12973667;14508707"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204198"	"2025-01-17"
"GENCC_000112-HGNC_554-OMIM_242150-HP_0000007-GENCC_100004"	"HGNC:554"	"AP1B1"	"MONDO:0009440"	"ichthyosiform erythroderma, corneal involvement, and hearing loss"	"OMIM:242150"	"Keratitis-ichthyosis-deafness syndrome, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:554"	"AP1B1"	"OMIM:242150"	"AP1B1-related MEDNIK-like Syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-11-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4361"	""	"31630788;31630791"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204361"	"2025-01-17"
"GENCC_000112-HGNC_555-OMIM_619548-HP_0000007-GENCC_100004"	"HGNC:555"	"AP1G1"	"MONDO:0859196"	"Usmani-Riazuddin syndrome, autosomal recessive"	"OMIM:619548"	"Usmani-Riazuddin syndrome, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:555"	"AP1G1"	"OMIM:619548"	"AP1G1-related intellectual disability, biallelic"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-09-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4768"	""	"34102099"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204768"	"2025-01-17"
"GENCC_000112-HGNC_555-OMIM_619467-HP_0000006-GENCC_100002"	"HGNC:555"	"AP1G1"	"MONDO:0859174"	"Usmani-Riazuddin syndrome, autosomal dominant"	"OMIM:619467"	"Usmani-Riazuddin syndrome, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:555"	"AP1G1"	"OMIM:619467"	"AP1G1-related intellectual disability and epilepsy, monoallelic"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-09-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4769"	""	"34102099"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204769"	"2025-01-17"
"GENCC_000112-HGNC_18971-OMIM_616106-HP_0000006-GENCC_100002"	"HGNC:18971"	"AP1S3"	"MONDO:0014494"	"psoriasis 15, pustular, susceptibility to"	"OMIM:616106"	"{Psoriasis 15, pustular, susceptibility to}"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18971"	"AP1S3"	"OMIM:616106"	"AP1S3-related Psoriasis 15, pustular, susceptibility to"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5246"	""	"24791904"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205246"	"2025-01-17"
"GENCC_000112-HGNC_564-OMIM_618587-HP_0000006-GENCC_100002"	"HGNC:564"	"AP2M1"	"MONDO:0032823"	"intellectual developmental disorder 60 with seizures"	"OMIM:618587"	"Intellectual developmental disorder 60 with seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:564"	"AP2M1"	"OMIM:618587"	"AP2M1-related developmental and epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4261"	""	"31104773"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204261"	"2025-01-17"
"GENCC_000112-HGNC_567-OMIM_617276-HP_0000007-GENCC_100002"	"HGNC:567"	"AP3B2"	"MONDO:0015000"	"developmental and epileptic encephalopathy, 48"	"OMIM:617276"	"Developmental and epileptic encephalopathy 48"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:567"	"AP3B2"	"OMIM:617276"	"AP3B2-related epileptic encephalopathy with optic atrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-03-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2390"	""	"27889060"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202390"	"2025-01-17"
"GENCC_000112-HGNC_583-MONDO_0021056-HP_0000006-GENCC_100001"	"HGNC:583"	"APC"	"MONDO:0021056"	"familial adenomatous polyposis 1"	"MONDO:0021056"	"familial adenomatous polyposis 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:583"	"APC"	"MONDO:0021056"	"APC-related adenomatous polyposis coli "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2185"	""	"1651174;8252630;10494086;8019566;1316610;7661930;9288102;9950370;3039373;2164769;15771908;9916927;10598803;7797123;9724771;9603437;1651563;9521420;10562580;27087319;9487968;1324223;12136240;8931709;7485167;8162051;8281160"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202185"	"2025-01-17"
"GENCC_000112-HGNC_24036-OMIM_618677-HP_0000007-GENCC_100002"	"HGNC:24036"	"APC2"	"MONDO:0032866"	"cortical dysplasia, complex, with other brain malformations 10"	"OMIM:618677"	"Cortical dysplasia, complex, with other brain malformations 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24036"	"APC2"	"OMIM:618677"	"APC2-related lissencephaly, subcortical heterotopia, and global developmental delay"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-10-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4335"	""	"31585108"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204335"	"2025-01-17"
"GENCC_000112-HGNC_15718-OMIM_605389-HP_0000006-GENCC_100004"	"HGNC:15718"	"APCDD1"	"MONDO:0011549"	"hypotrichosis 1"	"OMIM:605389"	"Hypotrichosis 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15718"	"APCDD1"	"OMIM:605389"	"APCDD1-related Generalised hereditary hypotrichosis simplex / Hypotrichosis type 1"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5303"	""	"20393562"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205303"	"2025-01-17"
"GENCC_000112-HGNC_17288-OMIM_145750-HP_0000006-GENCC_100001"	"HGNC:17288"	"APOA5"	"MONDO:0007788"	"hypertriglyceridemia 1"	"OMIM:145750"	"{Hypertriglyceridemia, susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17288"	"APOA5"	"OMIM:145750"	"APOA5-related hypertriglycidaemia, familial"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4175"	""	"25487149"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204175"	"2025-01-17"
"GENCC_000112-HGNC_603-OMIM_144010-HP_0000006-GENCC_100001"	"HGNC:603"	"APOB"	"MONDO:0007751"	"hypercholesterolemia, autosomal dominant, type B"	"OMIM:144010"	"Hypercholesterolemia, familial, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:603"	"APOB"	"OMIM:144010"	"APOB-related hypercholesterolaemia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4171"	""	"7883971"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204171"	"2025-01-17"
"GENCC_000112-HGNC_609-OMIM_207750-HP_0000007-GENCC_100001"	"HGNC:609"	"APOC2"	"MONDO:0008810"	"familial apolipoprotein C-II deficiency"	"OMIM:207750"	"Hyperlipoproteinemia, type Ib"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:609"	"APOC2"	"OMIM:207750"	"APOC2-related Hyperlipoproteinaemia, type IB"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4174"	""	"2477392;3225819"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204174"	"2025-01-17"
"GENCC_000112-HGNC_638-OMIM_600231-HP_0000006-GENCC_100003"	"HGNC:638"	"AQP5"	"MONDO:0010849"	"palmoplantar keratoderma, Bothnian type"	"OMIM:600231"	"Palmoplantar keratoderma, Bothnian type"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:638"	"AQP5"	"OMIM:600231"	"AQP5-related palmoplantar keratoderma, Bothnian type "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4209"	""	"30221495;23830519"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204209"	"2025-01-17"
"GENCC_000112-HGNC_649-OMIM_617164-HP_0000006-GENCC_100002"	"HGNC:649"	"ARCN1"	"MONDO:0014948"	"short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay"	"OMIM:617164"	"Short stature-micrognathia syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:649"	"ARCN1"	"OMIM:617164"	"ARCN1-related microcephalic dwarfism"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-11-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2174"	""	"33154040;27476655;31075182;35300924"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202174"	"2025-01-17"
"GENCC_000112-HGNC_654-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:654"	"ARF3"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:654"	"ARF3"	"MONDO:0700092"	"ARF3-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-06-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5043"	""	"36369169"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205043"	"2025-01-17"
"GENCC_000112-HGNC_15772-OMIM_619964-HP_0000006-GENCC_100002"	"HGNC:15772"	"ARFGEF1"	"MONDO:0859263"	"developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"OMIM:619964"	"Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15772"	"ARFGEF1"	"OMIM:619964"	"ARFGEF1-related intellectual disability and epilepsy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-07-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4726"	""	"34113008"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204726"	"2025-01-17"
"GENCC_000112-HGNC_17090-MONDO_0044314-HP_0000007-GENCC_100004"	"HGNC:17090"	"ARHGEF18"	"MONDO:0044314"	"retinitis pigmentosa 78"	"MONDO:0044314"	"retinitis pigmentosa 78"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17090"	"ARHGEF18"	"MONDO:0044314"	"ARHGEF18-related Retinal dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-04-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2414"	""	"28132693"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202414"	"2025-01-17"
"GENCC_000112-HGNC_14561-OMIM_300607-HP_0001417-GENCC_100002"	"HGNC:14561"	"ARHGEF9"	"MONDO:0010375"	"developmental and epileptic encephalopathy, 8"	"OMIM:300607"	"Developmental and epileptic encephalopathy 8"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:14561"	"ARHGEF9"	"OMIM:300607"	"ARHGEF9-related developmental disorder (X-linked dominant)"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4436"	""	"21633362;28589176"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204436"	"2025-01-17"
"GENCC_000112-HGNC_11110-OMIM_614607-HP_0000006-GENCC_100001"	"HGNC:11110"	"ARID1A"	"MONDO:0013819"	"intellectual disability, autosomal dominant 14"	"OMIM:614607"	"Coffin-Siris syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11110"	"ARID1A"	"OMIM:614607"	"ARID1A-related Coffin-Siris Syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=912"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200912"	"2025-01-17"
"GENCC_000112-HGNC_18037-OMIM_617808-HP_0000006-GENCC_100002"	"HGNC:18037"	"ARID2"	"MONDO:0033492"	"Coffin-Siris syndrome 6"	"OMIM:617808"	"Coffin-Siris syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18037"	"ARID2"	"OMIM:617808"	"ARID2-related Coffin-Siris like disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-03-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2373"	""	"28124119;36756859"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202373"	"2025-01-17"
"GENCC_000112-HGNC_693-OMIM_619082-HP_0000006-GENCC_100002"	"HGNC:693"	"ARL2"	"MONDO:0033644"	"microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1"	"OMIM:619082"	"?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:693"	"ARL2"	"OMIM:619082"	"ARL2-related microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (MRCS) syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-05-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4080"	""	"30945270"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204080"	"2025-01-17"
"GENCC_000112-HGNC_17146-MONDO_0014186-HP_0000007-GENCC_100001"	"HGNC:17146"	"ARL2BP"	"MONDO:0014186"	"retinitis pigmentosa with or without situs inversus"	"MONDO:0014186"	"retinitis pigmentosa with or without situs inversus"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17146"	"ARL2BP"	"MONDO:0014186"	"ARL2BP-related Retinitis pigmentosa with or without situs inversus"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2526"	""	"27790702;30210231;23849777"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202526"	"2025-01-17"
"GENCC_000112-HGNC_694-OMIM_618173-HP_0000006-GENCC_100004"	"HGNC:694"	"ARL3"	"MONDO:0032577"	"retinitis pigmentosa 83"	"OMIM:618173"	"Retinitis pigmentosa 83"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:694"	"ARL3"	"OMIM:618173"	"ARL3-related retinitis pigmentosa"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-05-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2527"	""	"26964041"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202527"	"2025-01-17"
"GENCC_000112-HGNC_707-OMIM_620141-HP_0000006-GENCC_100002"	"HGNC:707"	"ARPC4"	"MONDO:0859324"	"developmental delay, language impairment, and ocular abnormalities"	"OMIM:620141"	"Developmental delay, language impairment, and ocular abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:707"	"ARPC4"	"OMIM:620141"	"ARPC4-related microcephaly and developmental delay"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-02-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4820"	""	"36513617;35047857"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204820"	"2025-01-17"
"GENCC_000112-HGNC_24102-OMIM_618144-HP_0000007-GENCC_100004"	"HGNC:24102"	"ARSG"	"MONDO:0029141"	"Usher syndrome, type 4"	"OMIM:618144"	"Usher syndrome, type IV"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24102"	"ARSG"	"OMIM:618144"	"ARSG-related atypical Usher syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-11-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3952"	""	"29300381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203952"	"2025-01-17"
"GENCC_000112-HGNC_24268-OMIM_616867-HP_0000007-GENCC_100004"	"HGNC:24268"	"ASCC1"	"MONDO:0014807"	"spinal muscular atrophy with congenital bone fractures 2"	"OMIM:616867"	"Spinal muscular atrophy with congenital bone fractures 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24268"	"ASCC1"	"OMIM:616867"	"ASCC1-related prenatal spinal muscular atrophy and congenital bone fractures"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2016-06-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2106"	""	"26924529;35838082"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202106"	"2025-01-17"
"GENCC_000112-HGNC_18697-OMIM_620700-HP_0000007-GENCC_100004"	"HGNC:18697"	"ASCC3"	"MONDO:0958204"	"intellectual developmental disorder, autosomal recessive 81"	"OMIM:620700"	"Intellectual developmental disorder, autosomal recessive 81"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18697"	"ASCC3"	"OMIM:620700"	"ASCC3-related intellectual developmental disorder "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=163"	""	"21937992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200163"	"2025-01-17"
"GENCC_000112-HGNC_19088-OMIM_617796-HP_0000006-GENCC_100002"	"HGNC:19088"	"ASH1L"	"MONDO:0030918"	"intellectual disability, autosomal dominant 52"	"OMIM:617796"	"Intellectual developmental disorder, autosomal dominant 52"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19088"	"ASH1L"	"OMIM:617796"	"ASH1L-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1341"	""	"25961944;34373061;31673123;29753921;35241855;29276005;28394464"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201341"	"2025-01-17"
"GENCC_000112-HGNC_26321-OMIM_146750-HP_0000006-GENCC_100003"	"HGNC:26321"	"ASPRV1"	"MONDO:0007812"	"ichthyosis, lamellar, autosomal dominant"	"OMIM:146750"	"Ichthyosis, lamellar, autosomal dominant"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:26321"	"ASPRV1"	"OMIM:146750"	"ASPRV1-related Ichthyosis, lamellar, autosomal dominant"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5287"	""	"32516568"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205287"	"2025-01-17"
"GENCC_000112-HGNC_16448-MONDO_0019118-HP_0000007-GENCC_100002"	"HGNC:16448"	"ASRGL1"	"MONDO:0019118"	"inherited retinal dystrophy"	"MONDO:0019118"	"inherited retinal dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16448"	"ASRGL1"	"MONDO:0019118"	"ASRGL1-related retinal dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2656"	""	"27106100"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202656"	"2025-01-17"
"GENCC_000112-HGNC_23805-OMIM_617190-HP_0000006-GENCC_100002"	"HGNC:23805"	"ASXL2"	"MONDO:0014963"	"Shashi-Pena syndrome"	"OMIM:617190"	"Shashi-Pena syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:23805"	"ASXL2"	"OMIM:617190"	"ASXL2-related developmental delay, macrocephaly, and dysmorphic features"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2372"	""	"28061364"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202372"	"2025-01-17"
"GENCC_000112-HGNC_25567-OMIM_617183-HP_0000006-GENCC_100001"	"HGNC:25567"	"ATAD3A"	"MONDO:0014958"	"Harel-Yoon syndrome"	"OMIM:617183"	"Harel-Yoon syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25567"	"ATAD3A"	"OMIM:617183"	"ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-09-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2146"	""	"38173481;32004445;27640307;31496782;28158749"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202146"	"2025-01-17"
"GENCC_000112-HGNC_25567-OMIM_617183-HP_0000007-GENCC_100002"	"HGNC:25567"	"ATAD3A"	"MONDO:0014958"	"Harel-Yoon syndrome"	"OMIM:617183"	"Harel-Yoon syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25567"	"ATAD3A"	"OMIM:617183"	"ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2362"	""	"38105692;37095554;36061954;31727539;37031571;33845882;31496783;31239750;27640307;32933822"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202362"	"2025-01-17"
"GENCC_000112-HGNC_20789-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:20789"	"ATG4D"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20789"	"ATG4D"	"MONDO:0700092"	"ATG4D-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-03-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5021"	""	"36765070"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205021"	"2025-01-17"
"GENCC_000112-HGNC_11231-OMIM_182600-HP_0000006-GENCC_100001"	"HGNC:11231"	"ATL1"	"MONDO:0008437"	"hereditary spastic paraplegia 3A"	"OMIM:182600"	"Spastic paraplegia 3A, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11231"	"ATL1"	"OMIM:182600"	"ATL1-associated hereditary spastic paraplegia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2023-02-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5004"	""	"35925862"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205004"	"2025-01-17"
"GENCC_000112-HGNC_795-MONDO_0004992-HP_0000006-GENCC_100001"	"HGNC:795"	"ATM"	"MONDO:0004992"	"cancer"	"MONDO:0004992"	"cancer"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:795"	"ATM"	"MONDO:0004992"	"ATM-related cancer"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2023-01-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4995"	""	"34529012;33471991"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204995"	"2025-01-17"
"GENCC_000112-HGNC_3033-OMIM_618494-HP_0000006-GENCC_100002"	"HGNC:3033"	"ATN1"	"MONDO:0032781"	"congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"OMIM:618494"	"Congenital hypotonia, epilepsy, developmental delay, and digital anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3033"	"ATN1"	"OMIM:618494"	"ATN1-related congenital hypotonia, epilepsy, developmental delay, digit abnormalities"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4072"	""	"30827498"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204072"	"2025-01-17"
"GENCC_000112-HGNC_799-OMIM_618314-HP_0000006-GENCC_100002"	"HGNC:799"	"ATP1A1"	"MONDO:0020788"	"hypomagnesemia, seizures, and intellectual disability 2"	"OMIM:618314"	"Hypomagnesemia, seizures, and impaired intellectual development 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:799"	"ATP1A1"	"OMIM:618314"	"ATP1A1-related renal hypomagnesemia refractory seizures and intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4050"	""	"30388404"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204050"	"2025-01-17"
"GENCC_000112-HGNC_800-OMIM_602481-HP_0000006-GENCC_100001"	"HGNC:800"	"ATP1A2"	"MONDO:0011232"	"migraine, familial hemiplegic, 2"	"OMIM:602481"	"Migraine, familial hemiplegic, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:800"	"ATP1A2"	"OMIM:602481"	"ATP1A2-related  ATP1A2-related migraine, familial hemiplegic"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4575"	""	"17435187;20837964"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204575"	"2025-01-17"
"GENCC_000112-HGNC_800-OMIM_619605-HP_0000006-GENCC_100003"	"HGNC:800"	"ATP1A2"	"MONDO:0030472"	"developmental and epileptic encephalopathy 98"	"OMIM:619605"	"Developmental and epileptic encephalopathy 98"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:800"	"ATP1A2"	"OMIM:619605"	"ATP1A2-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-04-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5024"	""	"33493807"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205024"	"2025-01-17"
"GENCC_000112-HGNC_800-OMIM_619602-HP_0000007-GENCC_100002"	"HGNC:800"	"ATP1A2"	"MONDO:0859204"	"fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"	"OMIM:619602"	"Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:800"	"ATP1A2"	"OMIM:619602"	"ATP1A2-related neuronal migration disorder with epilepsy "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2023-04-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5025"	""	"33880529;30690204;31608932"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205025"	"2025-01-17"
"GENCC_000112-HGNC_814-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:814"	"ATP2B1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:814"	"ATP2B1"	"MONDO:0700092"	"ATP2B1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4905"	""	"35358416"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204905"	"2025-01-17"
"GENCC_000112-HGNC_823-OMIM_620358-HP_0000006-GENCC_100002"	"HGNC:823"	"ATP5F1A"	"MONDO:0957254"	"mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A"	"OMIM:620358"	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:823"	"ATP5F1A"	"OMIM:620358"	"ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-12-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4800"	""	"34483339"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204800"	"2025-01-17"
"GENCC_000112-HGNC_837-OMIM_618120-HP_0000007-GENCC_100002"	"HGNC:837"	"ATP5F1D"	"MONDO:0020858"	"mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5"	"OMIM:618120"	"Mitochondrial complex V (ATP synthase) deficiency"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:837"	"ATP5F1D"	"OMIM:618120"	"ATP5F1D-related metabolic disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4015"	""	"29478781"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204015"	"2025-01-17"
"GENCC_000112-HGNC_865-OMIM_619970-HP_0000006-GENCC_100001"	"HGNC:865"	"ATP6V0A1"	"MONDO:0031021"	"developmental and epileptic encephalopathy 104"	"OMIM:619970"	"Developmental and epileptic encephalopathy 104"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:865"	"ATP6V0A1"	"OMIM:619970"	"ATP6V0A1-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4422"	""	"33057194;28135719;30842224"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204422"	"2025-01-17"
"GENCC_000112-HGNC_855-OMIM_620465-HP_0000006-GENCC_100002"	"HGNC:855"	"ATP6V0C"	"MONDO:0958196"	"epilepsy, early-onset, 3, with or without developmental delay"	"OMIM:620465"	"Epilepsy, early-onset, 3, with or without developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:855"	"ATP6V0C"	"OMIM:620465"	"ATP6V0C-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4622"	""	"36074901;28135719;24623842;33190975"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204622"	"2025-01-17"
"GENCC_000112-HGNC_851-MONDO_0027451-HP_0000007-GENCC_100002"	"HGNC:851"	"ATP6V1A"	"MONDO:0027451"	"autosomal recessive cutis laxa type 2D"	"MONDO:0027451"	"autosomal recessive cutis laxa type 2D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:851"	"ATP6V1A"	"MONDO:0027451"	"ATP6V1A-related Autosomal Recessive Cutis Laxa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4010"	""	"33320377;28065471"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204010"	"2025-01-17"
"GENCC_000112-HGNC_854-OMIM_616455-HP_0000006-GENCC_100002"	"HGNC:854"	"ATP6V1B2"	"MONDO:0014646"	"Zimmermann-Laband syndrome 2"	"OMIM:616455"	"Zimmermann-Laband syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:854"	"ATP6V1B2"	"OMIM:616455"	"ATP6V1B2-related Zimmermann-Laband syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1829"	""	"25915598"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201829"	"2025-01-17"
"GENCC_000112-HGNC_857-OMIM_617402-HP_0000007-GENCC_100002"	"HGNC:857"	"ATP6V1E1"	"MONDO:0027462"	"autosomal recessive cutis laxa type 2C"	"OMIM:617402"	"Cutis laxa, autosomal recessive, type IIC"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:857"	"ATP6V1E1"	"OMIM:617402"	"ATP6V1E1-related cutis laxa "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4009"	""	"28065471"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204009"	"2025-01-17"
"GENCC_000112-HGNC_869-OMIM_304150-HP_0001417-GENCC_100001"	"HGNC:869"	"ATP7A"	"MONDO:0010572"	"occipital horn syndrome"	"OMIM:304150"	"Occipital horn syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:869"	"ATP7A"	"OMIM:304150"	"ATP7A-related Cutis laxa X linked/Occipital Horn Syndrome"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3829"	""	"8923001;7842019"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203829"	"2025-01-17"
"GENCC_000112-HGNC_13540-OMIM_620242-HP_0000007-GENCC_100003"	"HGNC:13540"	"ATP9A"	"MONDO:0859377"	"neurodevelopmental disorder with poor growth and behavioral abnormalities"	"OMIM:620242"	"Neurodevelopmental disorder with poor growth and behavioral abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13540"	"ATP9A"	"OMIM:620242"	"ATP9A-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-08-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4914"	""	"34764295;34379057"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204914"	"2025-01-17"
"GENCC_000112-HGNC_33499-MONDO_0007254-HP_0000006-GENCC_100003"	"HGNC:33499"	"ATRIP"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:33499"	"ATRIP"	"MONDO:0007254"	"ATRIP-related Breast cancer, susceptibility to"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-09-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5072"	""	"36977412;37592023"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205072"	"2025-01-17"
"GENCC_000112-HGNC_17978-OMIM_615349-HP_0000007-GENCC_100001"	"HGNC:17978"	"B3GALT6"	"MONDO:0014139"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"OMIM:615349"	"Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17978"	"B3GALT6"	"OMIM:615349"	"B3GALT6-related Ehlers-Danlos syndrome, spondylodysplastic type, 2"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5239"	""	"29443383;23664117"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205239"	"2025-01-17"
"GENCC_000112-HGNC_939-MONDO_0018943-HP_0000006-GENCC_100001"	"HGNC:939"	"BAG3"	"MONDO:0018943"	"myofibrillar myopathy"	"MONDO:0018943"	"myofibrillar myopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:939"	"BAG3"	"MONDO:0018943"	"BAG3-related Myofibrillar myopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2023-05-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5041"	""	"23995273;20605452;32453099;22734908;25728519;19085932;21361913"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205041"	"2025-01-17"
"GENCC_000112-HGNC_950-OMIM_619762-HP_0000006-GENCC_100003"	"HGNC:950"	"BAP1"	"MONDO:0859230"	"Kury-Isidor syndrome"	"OMIM:619762"	"Kury-Isidor syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:950"	"BAP1"	"OMIM:619762"	"BAP1-associated neurodevelopmental syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-02-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4825"	""	"35051358"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204825"	"2025-01-17"
"GENCC_000112-HGNC_952-MONDO_0007254-HP_0000006-GENCC_100001"	"HGNC:952"	"BARD1"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:952"	"BARD1"	"MONDO:0007254"	"BARD1-related Breast cancer, susceptibility to"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4942"	""	"37592023;33471991"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204942"	"2025-01-17"
"GENCC_000112-HGNC_963-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:963"	"BAZ2B"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:963"	"BAZ2B"	"MONDO:0700092"	"BAZ2B-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-03-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5017"	""	"31999386;37872713"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205017"	"2025-01-17"
"GENCC_000112-HGNC_16695-OMIM_300475-HP_0001417-GENCC_100001"	"HGNC:16695"	"BCAP31"	"MONDO:0010334"	"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"	"OMIM:300475"	"Deafness, dystonia, and cerebral hypomyelination"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:16695"	"BCAP31"	"OMIM:300475"	"BCAP31-related deafness, dystonia, and central hypomyelination with disorganization of the Golgi apparatus"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=452"	""	"28332767;24011989"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200452"	"2025-01-17"
"GENCC_000112-HGNC_14347-OMIM_619641-HP_0000007-GENCC_100002"	"HGNC:14347"	"BCAS3"	"MONDO:0859208"	"Hengel-Maroofian-Schols syndrome"	"OMIM:619641"	"Hengel-Maroofian-Schols syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14347"	"BCAS3"	"OMIM:619641"	"BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4734"	""	"34981858;34022130"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204734"	"2025-01-17"
"GENCC_000112-HGNC_13221-OMIM_617101-HP_0000006-GENCC_100001"	"HGNC:13221"	"BCL11A"	"MONDO:0014914"	"Dias-Logan syndrome"	"OMIM:617101"	"Dias-Logan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13221"	"BCL11A"	"OMIM:617101"	"BCL11A-related intellectual disability "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=716"	""	"25533962;27453576;35856171"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200716"	"2025-01-17"
"GENCC_000112-HGNC_13222-OMIM_618092-HP_0000006-GENCC_100002"	"HGNC:13222"	"BCL11B"	"MONDO:0060763"	"intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"	"OMIM:618092"	"Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13222"	"BCL11B"	"OMIM:618092"	"BCL11B-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4383"	""	"29985992;37860968"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204383"	"2025-01-17"
"GENCC_000112-HGNC_25657-MONDO_0026727-HP_0001417-GENCC_100004"	"HGNC:25657"	"BCORL1"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"MONDO:0026727"	"Shukla-Vernon syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:25657"	"BCORL1"	"MONDO:0026727"	"BCORL1-related Shukla-Vernon Syndrome"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4453"	""	"33810051;30941876;24123876;34400773"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204453"	"2025-01-17"
"GENCC_000112-HGNC_1020-OMIM_262000-HP_0000006-GENCC_100004"	"HGNC:1020"	"BCS1L"	"MONDO:0009872"	"Bjornstad syndrome"	"OMIM:262000"	"Bjornstad syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1020"	"BCS1L"	"OMIM:262000"	"BCS1L-related Bjornstad syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5300"	""	"28322498;17314340"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205300"	"2025-01-17"
"GENCC_000112-HGNC_12703-MONDO_0008662-HP_0000006-GENCC_100001"	"HGNC:12703"	"BEST1"	"MONDO:0008662"	"autosomal dominant vitreoretinochoroidopathy"	"MONDO:0008662"	"autosomal dominant vitreoretinochoroidopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12703"	"BEST1"	"MONDO:0008662"	"BEST1-related Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2652"	""	"15452077;12543751;18611979"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202652"	"2025-01-17"
"GENCC_000112-HGNC_1044-MONDO_0010248-HP_0001417-GENCC_100002"	"HGNC:1044"	"BGN"	"MONDO:0010248"	"X-linked spondyloepimetaphyseal dysplasia"	"MONDO:0010248"	"X-linked spondyloepimetaphyseal dysplasia"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:1044"	"BGN"	"MONDO:0010248"	"BGN-related X-Linked Spondyloepimetaphyseal Dysplasia"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2128"	""	"27236923"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202128"	"2025-01-17"
"GENCC_000112-HGNC_1044-OMIM_300989-HP_0001417-GENCC_100002"	"HGNC:1044"	"BGN"	"MONDO:0010515"	"Meester-Loeys syndrome"	"OMIM:300989"	"Meester-Loeys syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:1044"	"BGN"	"OMIM:300989"	"BGN-related severe syndromic form of thoracic aortic aneurysm and dissection"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-11-10 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2181"	""	"34807424;27632686"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202181"	"2025-01-17"
"GENCC_000112-HGNC_17208-OMIM_615290-HP_0000006-GENCC_100001"	"HGNC:17208"	"BICD2"	"MONDO:0014121"	"autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures"	"OMIM:615290"	"Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17208"	"BICD2"	"OMIM:615290"	"BICD2-related proximal spinal muscular atrophy with brain anomalies"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=742"	""	"23664120"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200742"	"2025-01-17"
"GENCC_000112-HGNC_4332-OMIM_619325-HP_0000006-GENCC_100002"	"HGNC:4332"	"BICRA"	"MONDO:0025699"	"Coffin-Siris syndrome 12"	"OMIM:619325"	"Coffin-Siris syndrome 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4332"	"BICRA"	"OMIM:619325"	"BICRA-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-01-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4637"	""	"33232675"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204637"	"2025-01-17"
"GENCC_000112-HGNC_26953-OMIM_617822-HP_0000007-GENCC_100002"	"HGNC:26953"	"BLTP1"	"MONDO:0060631"	"Alkuraya-Kucinskas syndrome"	"OMIM:617822"	"Alkuraya-Kucinskas syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26953"	"BLTP1"	"OMIM:617822"	"BLTP1-related brain atrophy, dandy walker and contractures"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2524"	""	"29290337;25558065"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202524"	"2025-01-17"
"GENCC_000112-HGNC_1069-OMIM_617877-HP_0000006-GENCC_100002"	"HGNC:1069"	"BMP2"	"MONDO:0100297"	"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"	"OMIM:617877"	"Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1069"	"BMP2"	"OMIM:617877"	"BMP2-related short stature, palatal anomalies, congenital heart disease, and skeletal malformations"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2525"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202525"	"2025-01-17"
"GENCC_000112-HGNC_1076-OMIM_174900-HP_0000006-GENCC_100001"	"HGNC:1076"	"BMPR1A"	"MONDO:0017380"	"juvenile polyposis syndrome"	"OMIM:174900"	"Polyposis, juvenile intestinal"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1076"	"BMPR1A"	"OMIM:174900"	"BMPR1A-related juvenile polypopsis syndrome, infantile form"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2188"	""	"9811934;9582123;10398437"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202188"	"2025-01-17"
"GENCC_000112-HGNC_23505-OMIM_107600-HP_0000006-GENCC_100002"	"HGNC:23505"	"BMS1"	"MONDO:0007145"	"aplasia cutis congenita"	"OMIM:107600"	"?Aplasia cutis congenita, nonsyndromic"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:23505"	"BMS1"	"OMIM:107600"	"BMS1-related Aplasia cutis congenita, non-syndromic"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5237"	""	"23785305"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205237"	"2025-01-17"
"GENCC_000112-HGNC_30988-OMIM_618612-HP_0000006-GENCC_100001"	"HGNC:30988"	"BNC2"	"MONDO:0032833"	"lower urinary tract obstruction, congenital"	"OMIM:618612"	"Lower urinary tract obstruction, congenital"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:30988"	"BNC2"	"OMIM:618612"	"BNC2-related congenital lower urinary tract obstruction"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4270"	""	"31051115"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204270"	"2025-01-17"
"GENCC_000112-HGNC_3581-OMIM_617755-HP_0000006-GENCC_100002"	"HGNC:3581"	"BPTF"	"MONDO:0060596"	"neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"	"OMIM:617755"	"Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3581"	"BPTF"	"OMIM:617755"	"BPTF-related developmental and speech delay, postnatal microcephaly, and dysmorphic features"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3653"	""	"28942966;30633344;36153657;33522091"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203653"	"2025-01-17"
"GENCC_000112-HGNC_13575-OMIM_620568-HP_0000006-GENCC_100002"	"HGNC:13575"	"BRD4"	"MONDO:0957921"	"Cornelia de Lange syndrome 6"	"OMIM:620568"	"Cornelia de Lange syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13575"	"BRD4"	"OMIM:620568"	"BRD4-related CORNELIA DE LANGE-LIKE SYNDROME"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-06-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4085"	""	"29379197;30302754"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204085"	"2025-01-17"
"GENCC_000112-HGNC_14255-OMIM_617333-HP_0000006-GENCC_100001"	"HGNC:14255"	"BRPF1"	"MONDO:0015022"	"intellectual developmental disorder with dysmorphic facies and ptosis"	"OMIM:617333"	"Intellectual developmental disorder with dysmorphic facies and ptosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14255"	"BRPF1"	"OMIM:617333"	"BRPF1-related syndromic intellectual disability with ptosis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-01-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2341"	""	"27939639;27939640"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202341"	"2025-01-17"
"GENCC_000112-HGNC_11405-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:11405"	"BRSK2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11405"	"BRSK2"	"MONDO:0700092"	"BRSK2-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4273"	""	"30879638"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204273"	"2025-01-17"
"GENCC_000112-HGNC_15832-OMIM_269700-HP_0000007-GENCC_100001"	"HGNC:15832"	"BSCL2"	"MONDO:0010020"	"congenital generalized lipodystrophy type 2"	"OMIM:269700"	"Lipodystrophy, congenital generalized, type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15832"	"BSCL2"	"OMIM:269700"	"BSCL2-related Lipodystrophy, congenital generalised type 2"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4113"	""	"11479539"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204113"	"2025-01-17"
"GENCC_000112-HGNC_1117-MONDO_0005027-HP_0000006-GENCC_100004"	"HGNC:1117"	"BSN"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1117"	"BSN"	"MONDO:0005027"	"BSN-related epilepsy "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-07-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5053"	""	"36600631"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205053"	"2025-01-17"
"GENCC_000112-HGNC_1117-MONDO_0005027-HP_0000007-GENCC_100004"	"HGNC:1117"	"BSN"	"MONDO:0005027"	"epilepsy"	"MONDO:0005027"	"epilepsy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1117"	"BSN"	"MONDO:0005027"	"BSN-related epilepsy "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-07-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5054"	""	"36600631"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205054"	"2025-01-17"
"GENCC_000112-HGNC_1148-OMIM_620183-HP_0000007-GENCC_100003"	"HGNC:1148"	"BUB1"	"MONDO:0859342"	"microcephaly 30, primary, autosomal recessive"	"OMIM:620183"	"Microcephaly 30, primary, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1148"	"BUB1"	"OMIM:620183"	"BUB1-related microcephaly and developmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-11-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4966"	""	"35044816"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204966"	"2025-01-17"
"GENCC_000112-HGNC_1243-OMIM_617713-HP_0000007-GENCC_100002"	"HGNC:1243"	"C1QBP"	"MONDO:0054677"	"combined oxidative phosphorylation deficiency 33"	"OMIM:617713"	"Combined oxidative phosphorylation deficiency 33"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1243"	"C1QBP"	"OMIM:617713"	"C1QBP-related severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3655"	""	"28942965"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203655"	"2025-01-17"
"GENCC_000112-HGNC_1246-OMIM_130080-HP_0000006-GENCC_100001"	"HGNC:1246"	"C1R"	"MONDO:0020684"	"Ehlers-Danlos syndrome, periodontal type 1"	"OMIM:130080"	"Ehlers-Danlos syndrome, periodontal type, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1246"	"C1R"	"OMIM:130080"	"C1R-related Ehlers-Danlos syndrome, periodontal type, 1"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5263"	""	"31749804"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205263"	"2025-01-17"
"GENCC_000112-HGNC_1247-OMIM_617174-HP_0000006-GENCC_100004"	"HGNC:1247"	"C1S"	"MONDO:0014954"	"Ehlers-Danlos syndrome, periodontal type 2"	"OMIM:617174"	"Ehlers-Danlos syndrome, periodontal type, 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1247"	"C1S"	"OMIM:617174"	"C1S-related Ehlers-Danlos syndrome, periodontal type, 2"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5264"	""	"33890303"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205264"	"2025-01-17"
"GENCC_000112-HGNC_26255-OMIM_620177-HP_0000007-GENCC_100003"	"HGNC:26255"	"C3orf52"	"MONDO:0859341"	"hypotrichosis 15"	"OMIM:620177"	"Hypotrichosis 15"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26255"	"C3orf52"	"OMIM:620177"	"C3orf52-related Localised, autosomal recessive hypotrichosis, type 15"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5298"	""	"32336749"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205298"	"2025-01-17"
"GENCC_000112-HGNC_1375-MONDO_0019200-HP_0000006-GENCC_100004"	"HGNC:1375"	"CA4"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1375"	"CA4"	"MONDO:0019200"	"CA4-related Retinitis pigmentosa"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-04-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2422"	""	"17652713;19211803;7581389;15090652;15563508;20450258"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202422"	"2025-01-17"
"GENCC_000112-HGNC_1388-MONDO_0014917-HP_0000006-GENCC_100002"	"HGNC:1388"	"CACNA1A"	"MONDO:0014917"	"developmental and epileptic encephalopathy, 42"	"MONDO:0014917"	"developmental and epileptic encephalopathy, 42"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1388"	"CACNA1A"	"MONDO:0014917"	"CACNA1A-related EPILEPTIC ENCEPHALOPATHY"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=762"	""	"11812585;11342703;28927557;28742085;29366381;27476654;23934111"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200762"	"2025-01-17"
"GENCC_000112-HGNC_1392-OMIM_618285-HP_0000006-GENCC_100002"	"HGNC:1392"	"CACNA1E"	"MONDO:0032657"	"developmental and epileptic encephalopathy, 69"	"OMIM:618285"	"Developmental and epileptic encephalopathy 69"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1392"	"CACNA1E"	"OMIM:618285"	"CACNA1E-related epileptic encephalopathy with contractures, macrocephaly, and dyskinesia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-11-26 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3984"	""	"30343943"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203984"	"2025-01-17"
"GENCC_000112-HGNC_1399-OMIM_620149-HP_0000007-GENCC_100004"	"HGNC:1399"	"CACNA2D1"	"MONDO:0859327"	"developmental and epileptic encephalopathy 110"	"OMIM:620149"	"Developmental and epileptic encephalopathy 110"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1399"	"CACNA2D1"	"OMIM:620149"	"CACNA2D1-related neurodevelopmental disorder "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-07-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5055"	""	"35293990"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205055"	"2025-01-17"
"GENCC_000112-HGNC_1424-OMIM_616457-HP_0000007-GENCC_100001"	"HGNC:1424"	"CAD"	"MONDO:0014647"	"developmental and epileptic encephalopathy, 50"	"OMIM:616457"	"Developmental and epileptic encephalopathy 50"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1424"	"CAD"	"OMIM:616457"	"CAD-related uridine-responsive epileptic encephalopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-02-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3736"	""	"28007989;25678555"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203736"	"2025-01-17"
"GENCC_000112-HGNC_1460-OMIM_617798-HP_0000006-GENCC_100002"	"HGNC:1460"	"CAMK2A"	"MONDO:0030919"	"intellectual disability, autosomal dominant 53"	"OMIM:617798"	"Intellectual developmental disorder, autosomal dominant 53"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1460"	"CAMK2A"	"OMIM:617798"	"CAMK2A-related intellectual disability "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3665"	""	"29100089;29560374"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203665"	"2025-01-17"
"GENCC_000112-HGNC_1461-OMIM_617799-HP_0000006-GENCC_100002"	"HGNC:1461"	"CAMK2B"	"MONDO:0030920"	"intellectual disability, autosomal dominant 54"	"OMIM:617799"	"Intellectual developmental disorder, autosomal dominant 54"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1461"	"CAMK2B"	"OMIM:617799"	"CAMK2B-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3666"	""	"29100089;29560374"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203666"	"2025-01-17"
"GENCC_000112-HGNC_19946-OMIM_620316-HP_0000007-GENCC_100003"	"HGNC:19946"	"CAMSAP1"	"MONDO:0957217"	"cortical dysplasia, complex, with other brain malformations 12"	"OMIM:620316"	"Cortical dysplasia, complex, with other brain malformations 12"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19946"	"CAMSAP1"	"OMIM:620316"	"CAMSAP1-associated neuronal migration disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-03-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5011"	""	"36283405"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205011"	"2025-01-17"
"GENCC_000112-HGNC_6743-OMIM_620782-HP_0000006-GENCC_100003"	"HGNC:6743"	"CAPRIN1"	"MONDO:0968945"	"neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder"	"OMIM:620782"	"Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6743"	"CAPRIN1"	"OMIM:620782"	"CAPRIN1-related neurodevelopmental disorder "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1617"	""	"23849776;35979925"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201617"	"2025-01-17"
"GENCC_000112-HGNC_16446-OMIM_602723-HP_0000006-GENCC_100001"	"HGNC:16446"	"CARD14"	"MONDO:0011269"	"psoriasis 2"	"OMIM:602723"	"Psoriasis 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16446"	"CARD14"	"OMIM:602723"	"CARD14-related Psoriasis susceptibilty 2"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4118"	""	"22521418"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204118"	"2025-01-17"
"GENCC_000112-HGNC_27089-OMIM_618131-HP_0000007-GENCC_100002"	"HGNC:27089"	"CARMIL2"	"MONDO:0029134"	"severe combined immunodeficiency due to CARMIL2 deficiency"	"OMIM:618131"	"Immunodeficiency 58"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:27089"	"CARMIL2"	"OMIM:618131"	"CARMIL2-related Immunodeficiency 58"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5261"	""	"29479355"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205261"	"2025-01-17"
"GENCC_000112-HGNC_1493-OMIM_618891-HP_0000007-GENCC_100002"	"HGNC:1493"	"CARS1"	"MONDO:0030047"	"microcephaly, developmental delay, and brittle hair syndrome"	"OMIM:618891"	"Microcephaly, developmental delay, and brittle hair syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1493"	"CARS1"	"OMIM:618891"	"CARS1-related microcephaly developmental delay and brittle hair and nails"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4070"	""	"30824121"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204070"	"2025-01-17"
"GENCC_000112-HGNC_25695-OMIM_616672-HP_0000007-GENCC_100002"	"HGNC:25695"	"CARS2"	"MONDO:0014728"	"combined oxidative phosphorylation defect type 27"	"OMIM:616672"	"Combined oxidative phosphorylation deficiency 27"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25695"	"CARS2"	"OMIM:616672"	"CARS2-related epileptic encephalopathy with complex movement disorder and regression"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-03-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2374"	""	"25787132;25361775"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202374"	"2025-01-17"
"GENCC_000112-HGNC_1503-OMIM_620653-HP_0000007-GENCC_100003"	"HGNC:1503"	"CASP2"	"MONDO:0957999"	"intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly"	"OMIM:620653"	"Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1503"	"CASP2"	"OMIM:620653"	"CASP2-related developmental disorder with lissencephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1326"	""	"37880421;21937992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201326"	"2025-01-17"
"GENCC_000112-HGNC_1515-OMIM_616295-HP_0000007-GENCC_100004"	"HGNC:1515"	"CAST"	"MONDO:0014574"	"peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"	"OMIM:616295"	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1515"	"CAST"	"OMIM:616295"	"CAST-related PLACK syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5250"	""	"33010050;31392520"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205250"	"2025-01-17"
"GENCC_000112-HGNC_1539-OMIM_620099-HP_0000006-GENCC_100003"	"HGNC:1539"	"CBFB"	"MONDO:0859307"	"cleidocranial dysplasia 2"	"OMIM:620099"	"Cleidocranial dysplasia 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1539"	"CBFB"	"OMIM:620099"	"CBFB-related cleidocranial dysplasia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-03-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5137"	""	"36241386"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205137"	"2025-01-17"
"GENCC_000112-HGNC_1551-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:1551"	"CBX1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1551"	"CBX1"	"MONDO:0700092"	"CBX1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-12-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5096"	""	"37087635"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205096"	"2025-01-17"
"GENCC_000112-HGNC_32700-OMIM_614679-HP_0000007-GENCC_100001"	"HGNC:32700"	"DNAAF19"	"MONDO:0013854"	"primary ciliary dyskinesia 17"	"OMIM:614679"	"Ciliary dyskinesia, primary, 17"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:32700"	"CCDC103"	"OMIM:614679"	"CCDC103-related PRIMARY CILIARY DYSKINESIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1510"	""	"22581229"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201510"	"2025-01-17"
"GENCC_000112-HGNC_28178-OMIM_616828-HP_0000007-GENCC_100001"	"HGNC:28178"	"VMA22"	"MONDO:0014789"	"CCDC115-CDG"	"OMIM:616828"	"Congenital disorder of glycosylation, type IIo"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28178"	"CCDC115"	"OMIM:616828"	"CCDC115-related Disorder of Golgi homeostasis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-06-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2102"	""	"26833332"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202102"	"2025-01-17"
"GENCC_000112-HGNC_28909-MONDO_0010499-HP_0001417-GENCC_100002"	"HGNC:28909"	"CCDC22"	"MONDO:0010499"	"Ritscher-Schinzel syndrome 2"	"MONDO:0010499"	"Ritscher-Schinzel syndrome 2"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:28909"	"CCDC22"	"MONDO:0010499"	"CCDC22-related SYNDROMIC X-LINKED INTELLECTUAL DISABILITY"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1568"	""	"36073196;24916641"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201568"	"2025-01-17"
"GENCC_000112-HGNC_28295-OMIM_619123-HP_0000007-GENCC_100002"	"HGNC:28295"	"CCDC32"	"MONDO:0030873"	"cardiofacioneurodevelopmental syndrome"	"OMIM:619123"	"Cardiofacioneurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28295"	"CCDC32"	"OMIM:619123"	"CCDC32-associated neurodevelopmental syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-06-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4493"	""	"35451546;32307552"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204493"	"2025-01-17"
"GENCC_000112-HGNC_24856-OMIM_618268-HP_0000007-GENCC_100002"	"HGNC:24856"	"CCDC47"	"MONDO:0032645"	"trichohepatoneurodevelopmental syndrome"	"OMIM:618268"	"Trichohepatoneurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24856"	"CCDC47"	"OMIM:618268"	"CCDC47-related woolly hair liver dysfunction dysmorphic features and global developmental delay"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4049"	""	"30401460"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204049"	"2025-01-17"
"GENCC_000112-HGNC_29937-OMIM_615504-HP_0000007-GENCC_100001"	"HGNC:29937"	"CCDC65"	"MONDO:0014215"	"primary ciliary dyskinesia 27"	"OMIM:615504"	"Ciliary dyskinesia, primary, 27"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29937"	"CCDC65"	"OMIM:615504"	"CCDC65-related primary ciliary dyskinesia "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1922"	""	"23991085;24094744"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201922"	"2025-01-17"
"GENCC_000112-HGNC_24855-OMIM_101850-HP_0000006-GENCC_100004"	"HGNC:24855"	"CCDC91"	"MONDO:0007047"	"punctate palmoplantar keratoderma type III"	"OMIM:101850"	"?Keratoderma, palmoplantar, punctate type 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:24855"	"CCDC91"	"OMIM:101850"	"CCDC91-related Palmoplantar keratoderma, punctate type III"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5309"	""	"38627542"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205309"	"2025-01-17"
"GENCC_000112-HGNC_1596-OMIM_618147-HP_0000006-GENCC_100004"	"HGNC:1596"	"CCNK"	"MONDO:0029143"	"intellectual developmental disorder with hypertelorism and distinctive facies"	"OMIM:618147"	"?Intellectual developmental disorder with hypertelorism and distinctive facies"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1596"	"CCNK"	"OMIM:618147"	"CCNK-related syndromic neurodevelopmental disorder with distinctive facial dysmorphism"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4040"	""	"30122539"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204040"	"2025-01-17"
"GENCC_000112-HGNC_17350-OMIM_619302-HP_0000007-GENCC_100004"	"HGNC:17350"	"CDC40"	"MONDO:0030259"	"pontocerebellar hypoplasia, type 15"	"OMIM:619302"	"?Pontocerebellar hypoplasia, type 15"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17350"	"CDC40"	"OMIM:619302"	"CDC40-related neurodegenerative pontocerebellar hypoplasia with microcephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4632"	""	"33220177"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204632"	"2025-01-17"
"GENCC_000112-HGNC_1736-MONDO_0700092-HP_0000006-GENCC_100001"	"HGNC:1736"	"CDC42"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1736"	"CDC42"	"MONDO:0700092"	"CDC42-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-02-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4466"	""	"26386261;29394990;26708094"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204466"	"2025-01-17"
"GENCC_000112-HGNC_1738-OMIM_619841-HP_0000006-GENCC_100004"	"HGNC:1738"	"CDC42BPB"	"MONDO:0859239"	"Chilton-Okur-Chung neurodevelopmental syndrome"	"OMIM:619841"	"Chilton-Okur-Chung neurodevelopmental syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1738"	"CDC42BPB"	"OMIM:619841"	"CDC42BPB-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-02-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4465"	""	"32031333"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204465"	"2025-01-17"
"GENCC_000112-HGNC_1739-OMIM_617063-HP_0000007-GENCC_100001"	"HGNC:1739"	"CDC45"	"MONDO:0014894"	"Meier-Gorlin syndrome 7"	"OMIM:617063"	"Meier-Gorlin syndrome 7"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1739"	"CDC45"	"OMIM:617063"	"CDC45-related Meier-Gorlin syndrome and craniosynostosis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-07-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2135"	""	"27374770"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202135"	"2025-01-17"
"GENCC_000112-HGNC_1748-OMIM_119580-HP_0000006-GENCC_100001"	"HGNC:1748"	"CDH1"	"MONDO:0054740"	"blepharocheilodontic syndrome 1"	"OMIM:119580"	"Blepharocheilodontic syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1748"	"CDH1"	"OMIM:119580"	"CDH1-related Blepharo-cheiro-dontic syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2518"	""	"29348693"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202518"	"2025-01-17"
"GENCC_000112-HGNC_1759-OMIM_618929-HP_0000006-GENCC_100002"	"HGNC:1759"	"CDH2"	"MONDO:0030065"	"agenesis of corpus callosum, cardiac, ocular, and genital syndrome"	"OMIM:618929"	"Agenesis of corpus callosum, cardiac, ocular, and genital syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1759"	"CDH2"	"OMIM:618929"	"CDH2-related syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-10-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4336"	""	"31650526;31585109"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204336"	"2025-01-17"
"GENCC_000112-HGNC_1762-OMIM_601553-HP_0000007-GENCC_100004"	"HGNC:1762"	"CDH3"	"MONDO:0011107"	"congenital hypotrichosis with juvenile macular dystrophy"	"OMIM:601553"	"Hypotrichosis, congenital, with juvenile macular dystrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1762"	"CDH3"	"OMIM:601553"	"CDH3-related Hypotrichosis with juvenile macular dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5297"	""	"33837674;27386845"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205297"	"2025-01-17"
"GENCC_000112-HGNC_14550-OMIM_613660-HP_0000007-GENCC_100001"	"HGNC:14550"	"CDHR1"	"MONDO:0013348"	"cone-rod dystrophy 15"	"OMIM:613660"	"Retinitis pigmentosa 65"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14550"	"CDHR1"	"OMIM:613660"	"CDHR1-related retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-07-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2611"	""	"26350383;20805371;20087419"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202611"	"2025-01-17"
"GENCC_000112-HGNC_1770-OMIM_617694-HP_0000007-GENCC_100004"	"HGNC:1770"	"CDK10"	"MONDO:0044324"	"Al Kaissi syndrome"	"OMIM:617694"	"Al Kaissi syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1770"	"CDK10"	"OMIM:617694"	"CDK10-related severe growth retardation, spine malformations, and developmental delays"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3648"	""	"28886341;29130579"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203648"	"2025-01-17"
"GENCC_000112-HGNC_1733-OMIM_617360-HP_0000006-GENCC_100001"	"HGNC:1733"	"CDK13"	"MONDO:0044302"	"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	"OMIM:617360"	"Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1733"	"CDK13"	"OMIM:617360"	"CDK13-related syndromic intellectual disability with or without congenital heart disease"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-09-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2153"	""	"36599938;29222009;29393965;27479907;35063350;31883531;37351084;28807008;35651941;29021403"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202153"	"2025-01-17"
"GENCC_000112-HGNC_8749-MONDO_0001071-HP_0001417-GENCC_100004"	"HGNC:8749"	"CDK16"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:8749"	"CDK16"	"MONDO:0001071"	"CDK16-related INTELLECTUAL DISABILITY"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2576"	""	"36323681;25644381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202576"	"2025-01-17"
"GENCC_000112-HGNC_19338-OMIM_618916-HP_0000006-GENCC_100002"	"HGNC:19338"	"CDK19"	"MONDO:0030059"	"developmental and epileptic encephalopathy, 87"	"OMIM:618916"	"Developmental and epileptic encephalopathy 87"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19338"	"CDK19"	"OMIM:618916"	"CDK19-associated intellectual disability and epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-06-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4499"	""	"32330417"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204499"	"2025-01-17"
"GENCC_000112-HGNC_1773-MONDO_0012183-HP_0000006-GENCC_100001"	"HGNC:1773"	"CDK4"	"MONDO:0012183"	"melanoma, cutaneous malignant, susceptibility to, 3"	"MONDO:0012183"	"melanoma, cutaneous malignant, susceptibility to, 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1773"	"CDK4"	"MONDO:0012183"	"CDK4-related MELANOMA, CUTANEOUS MALIGNANT, 3"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2197"	""	"7652577;9425228"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202197"	"2025-01-17"
"GENCC_000112-HGNC_1785-MONDO_0017169-HP_0000006-GENCC_100002"	"HGNC:1785"	"CDKN1B"	"MONDO:0017169"	"multiple endocrine neoplasia"	"MONDO:0017169"	"multiple endocrine neoplasia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1785"	"CDKN1B"	"MONDO:0017169"	"CDKN1B-related Multiple endocrine neoplasia, type IV"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4925"	""	"32232325;17030811;30990521"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204925"	"2025-01-17"
"GENCC_000112-HGNC_1787-MONDO_0007964-HP_0000006-GENCC_100001"	"HGNC:1787"	"CDKN2A"	"MONDO:0007964"	"melanoma, cutaneous malignant, susceptibility to, 2"	"MONDO:0007964"	"melanoma, cutaneous malignant, susceptibility to, 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1787"	"CDKN2A"	"MONDO:0007964"	"CDKN2A-related MELANOMA, CUTANEOUS MALIGNANT, 2"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2199"	""	"7670475;9516223;10797439;7666917;11726555;7624155;20132244;8653684;8727306;8153634;11506491;9603434;17492760;11725203;9328469;18178632;7987387"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202199"	"2025-01-17"
"GENCC_000112-HGNC_1802-OMIM_146520-HP_0000006-GENCC_100004"	"HGNC:1802"	"CDSN"	"MONDO:0007805"	"hypotrichosis 2"	"OMIM:146520"	"Hypotrichosis 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1802"	"CDSN"	"OMIM:146520"	"CDSN-related Hypotrichosis simplex of the scalp / Hypotrichosis type 2"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4180"	""	"12754508;31663161"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204180"	"2025-01-17"
"GENCC_000112-HGNC_2550-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:2550"	"CELF2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2550"	"CELF2"	"MONDO:0700092"	"CELF2-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-01-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4674"	""	"33131106"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204674"	"2025-01-17"
"GENCC_000112-HGNC_26690-OMIM_616300-HP_0000007-GENCC_100001"	"HGNC:26690"	"CEP120"	"MONDO:0014577"	"short-rib thoracic dysplasia 13 with or without polydactyly"	"OMIM:616300"	"Short-rib thoracic dysplasia 13 with or without polydactyly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26690"	"CEP120"	"OMIM:616300"	"CEP120-related ciliopathy syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-01-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3696"	""	"25361962;27208211"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203696"	"2025-01-17"
"GENCC_000112-HGNC_1859-OMIM_618358-HP_0000007-GENCC_100002"	"HGNC:1859"	"CEP250"	"MONDO:0020780"	"cone-rod dystrophy and hearing loss 2"	"OMIM:618358"	"Cone-rod dystrophy and hearing loss 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1859"	"CEP250"	"OMIM:618358"	"CEP250-related retinal dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-07-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2607"	""	"30998843;24780881;30459346;28005958"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202607"	"2025-01-17"
"GENCC_000112-HGNC_25740-MONDO_0014980-HP_0000007-GENCC_100001"	"HGNC:25740"	"CEP78"	"MONDO:0014980"	"cone-rod dystrophy and hearing loss"	"MONDO:0014980"	"cone-rod dystrophy and hearing loss"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25740"	"CEP78"	"MONDO:0014980"	"CEP78-related Cone-rod dystrophy and hearing loss"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2743"	""	"27588451;27814526;27627988;28005958"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202743"	"2025-01-17"
"GENCC_000112-HGNC_17966-OMIM_615862-HP_0000007-GENCC_100001"	"HGNC:17966"	"CEP83"	"MONDO:0014374"	"nephronophthisis 18"	"OMIM:615862"	"Nephronophthisis 18"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17966"	"CEP83"	"OMIM:615862"	"CEP83-related infantile nephronophthisis and intellectual disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1676"	""	"24882706"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201676"	"2025-01-17"
"GENCC_000112-HGNC_23752-OMIM_615023-HP_0000007-GENCC_100004"	"HGNC:23752"	"CERS3"	"MONDO:0014010"	"autosomal recessive congenital ichthyosis 9"	"OMIM:615023"	"Ichthyosis, congenital, autosomal recessive 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23752"	"CERS3"	"OMIM:615023"	"CERS3-related Ichthyosis, congenital, autosomal recessive 9"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5241"	""	"23754960"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205241"	"2025-01-17"
"GENCC_000112-HGNC_2205-OMIM_616351-HP_0000006-GENCC_100001"	"HGNC:2205"	"CERT1"	"MONDO:0014599"	"intellectual disability, autosomal dominant 34"	"OMIM:616351"	"Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2205"	"CERT1"	"OMIM:616351"	"CERT1-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1433"	""	"25533962"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201433"	"2025-01-17"
"GENCC_000112-HGNC_28188-MONDO_0016575-HP_0000007-GENCC_100001"	"HGNC:28188"	"CFAP300"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28188"	"CFAP300"	"MONDO:0016575"	"CFAP300-related PRIMARY CILIARY DYSKINESIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-03-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4020"	""	"29727693;29727692"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204020"	"2025-01-17"
"GENCC_000112-HGNC_1915-OMIM_617682-HP_0000006-GENCC_100002"	"HGNC:1915"	"CHD1"	"MONDO:0060568"	"Pilarowski-Bjornsson syndrome"	"OMIM:617682"	"Pilarowski-Bjornsson syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1915"	"CHD1"	"OMIM:617682"	"CHD1-related neurodevelopment disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4578"	""	"28866611"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204578"	"2025-01-17"
"GENCC_000112-HGNC_1917-OMIM_615369-HP_0000006-GENCC_100001"	"HGNC:1917"	"CHD2"	"MONDO:0014150"	"developmental and epileptic encephalopathy 94"	"OMIM:615369"	"Developmental and epileptic encephalopathy 94"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1917"	"CHD2"	"OMIM:615369"	"CHD2-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1747"	""	"35386198;37873138;24207121;35774518;29740950;26262932;24614520;34713950;25672921;28910737;25783594;31677157;35627293;28960266;37877434;32170405;29529558;31993582;34609735;35774528;35222528;23708187;38125503"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201747"	"2025-01-17"
"GENCC_000112-HGNC_1918-OMIM_618205-HP_0000006-GENCC_100002"	"HGNC:1918"	"CHD3"	"MONDO:0032600"	"Snijders Blok-Campeau syndrome"	"OMIM:618205"	"Snijders Blok-Campeau syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1918"	"CHD3"	"OMIM:618205"	"CHD3-related macrocephaly and impaired speech and language"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3775"	""	"30397230;33358638;36565043;33571694;32483341;35346573;34535214"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203775"	"2025-01-17"
"GENCC_000112-HGNC_16627-OMIM_609265-HP_0000006-GENCC_100001"	"HGNC:16627"	"CHEK2"	"MONDO:0012233"	"Li-Fraumeni syndrome 2"	"OMIM:609265"	"Tumor predisposition syndrome 4, breast/prostate/colorectal"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16627"	"CHEK2"	"OMIM:609265"	"CHEK2 related CANCER"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2202"	""	"11719428;10617473"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202202"	"2025-01-17"
"GENCC_000112-HGNC_1937-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:1937"	"CHKA"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1937"	"CHKA"	"MONDO:0700092"	"CHKA-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4918"	""	"35202461"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204918"	"2025-01-17"
"GENCC_000112-HGNC_1950-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:1950"	"CHRM1"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1950"	"CHRM1"	"MONDO:0001071"	"CHRM1-associated intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-11-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4794"	""	"34212451"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204794"	"2025-01-17"
"GENCC_000112-HGNC_1957-OMIM_191800-HP_0000007-GENCC_100002"	"HGNC:1957"	"CHRNA3"	"MONDO:0008630"	"urinary bladder, atony of"	"OMIM:191800"	"Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1957"	"CHRNA3"	"OMIM:191800"	"CHRNA3-related congenital anomalies of the kidney and urinary tract"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-12-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4443"	""	"31708116"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204443"	"2025-01-17"
"GENCC_000112-HGNC_6938-MONDO_0009020-HP_0000007-GENCC_100001"	"HGNC:6938"	"CHST6"	"MONDO:0009020"	"macular corneal dystrophy"	"MONDO:0009020"	"macular corneal dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6938"	"CHST6"	"MONDO:0009020"	"CHST6-related Macular corneal dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2438"	""	"11818380;8644739;16568029;11139648"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202438"	"2025-01-17"
"GENCC_000112-HGNC_15993-OMIM_616265-HP_0000007-GENCC_100004"	"HGNC:15993"	"CHST8"	"MONDO:0014555"	"peeling skin syndrome type A"	"OMIM:616265"	"Peeling skin syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15993"	"CHST8"	"OMIM:616265"	"CHST8-related Peeling Skin Syndrome 3"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5232"	""	"22289416"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205232"	"2025-01-17"
"GENCC_000112-HGNC_16920-OMIM_618267-HP_0000007-GENCC_100001"	"HGNC:16920"	"CIB1"	"MONDO:0032644"	"epidermodysplasia verruciformis, susceptibility to, 3"	"OMIM:618267"	"{Epidermodysplasia verruciformis, susceptibility to, 3}"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16920"	"CIB1"	"OMIM:618267"	"CIB1-related Epidermodysplasia verruciformis 3"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5273"	""	"34386043"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205273"	"2025-01-17"
"GENCC_000112-HGNC_29675-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:29675"	"CLCC1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29675"	"CLCC1"	"MONDO:0019200"	"CLCC1-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3941"	""	"30157172"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203941"	"2025-01-17"
"GENCC_000112-HGNC_2022-OMIM_300114-HP_0001417-GENCC_100002"	"HGNC:2022"	"CLCN4"	"MONDO:0010250"	"intellectual disability, X-linked 49"	"OMIM:300114"	"Raynaud-Claes syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:2022"	"CLCN4"	"OMIM:300114"	"CLCN4-related infantile epileptic encephalopathy and/or intellectual disability"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1790"	""	"23647072;27550844;25644381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201790"	"2025-01-17"
"GENCC_000112-HGNC_2024-OMIM_619173-HP_0000006-GENCC_100002"	"HGNC:2024"	"CLCN6"	"MONDO:0030947"	"neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities"	"OMIM:619173"	"Ceroid lipofuscinosis, neuronal, 15"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2024"	"CLCN6"	"OMIM:619173"	"CLCN6-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-01-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4635"	""	"29667327;28074849;33217309"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204635"	"2025-01-17"
"GENCC_000112-HGNC_2025-OMIM_618541-HP_0000006-GENCC_100003"	"HGNC:2025"	"CLCN7"	"MONDO:0032805"	"hypopigmentation, organomegaly, and delayed myelination and development"	"OMIM:618541"	"Hypopigmentation, organomegaly, and delayed myelination and development"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2025"	"CLCN7"	"OMIM:618541"	"CLCN7-related Hypopigmentation, organomegaly, and delayed myelination and development"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5283"	""	"31155284"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205283"	"2025-01-17"
"GENCC_000112-HGNC_2047-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:2047"	"CLDN5"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2047"	"CLDN5"	"MONDO:0700092"	"CLDN5-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-08-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4912"	""	"36477332;35714222"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204912"	"2025-01-17"
"GENCC_000112-HGNC_2074-MONDO_0044314-HP_0000007-GENCC_100001"	"HGNC:2074"	"CLN3"	"MONDO:0044314"	"retinitis pigmentosa 78"	"MONDO:0044314"	"retinitis pigmentosa 78"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2074"	"CLN3"	"MONDO:0044314"	"CLN3-related Retinal dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2746"	""	"24154662;23847139;28542676"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202746"	"2025-01-17"
"GENCC_000112-HGNC_2084-MONDO_0017312-HP_0000007-GENCC_100002"	"HGNC:2084"	"CLPP"	"MONDO:0017312"	"Perrault syndrome"	"MONDO:0017312"	"Perrault syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2084"	"CLPP"	"MONDO:0017312"	"CLPP-related PERRAULT SYNDROME"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=549"	""	"23541340"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200549"	"2025-01-17"
"GENCC_000112-HGNC_2092-MONDO_0030922-HP_0000006-GENCC_100002"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2092"	"CLTC"	"MONDO:0030922"	"CLTC-related Epilepsy and intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3657"	""	"26822784;38111042;29100083;34230591;33041083;31776469;30337205;37196051"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203657"	"2025-01-17"
"GENCC_000112-HGNC_19009-MONDO_0018998-HP_0000007-GENCC_100002"	"HGNC:19009"	"CLUAP1"	"MONDO:0018998"	"Leber congenital amaurosis"	"MONDO:0018998"	"Leber congenital amaurosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19009"	"CLUAP1"	"MONDO:0018998"	"CLUAP1-related LEBER CONGENITAL AMAUROSIS"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2686"	""	"26820066"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202686"	"2025-01-17"
"GENCC_000112-HGNC_19701-MONDO_0030909-HP_0001417-GENCC_100002"	"HGNC:19701"	"CNKSR2"	"MONDO:0030909"	"intellectual disability, X-linked, syndromic, Houge type"	"MONDO:0030909"	"intellectual disability, X-linked, syndromic, Houge type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:19701"	"CNKSR2"	"MONDO:0030909"	"CNKSR2-related INTELLECTUAL DISABILITY WITH EPILEPSY"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1411"	""	"22511892;25644381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201411"	"2025-01-17"
"GENCC_000112-HGNC_103-OMIM_616418-HP_0000006-GENCC_100002"	"HGNC:103"	"CNNM2"	"MONDO:0020787"	"hypomagnesemia, seizures, and intellectual disability 1"	"OMIM:616418"	"Hypomagnesemia, seizures, and impaired intellectual development 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:103"	"CNNM2"	"OMIM:616418"	"CNNM2-related neurodevelopmental disorder with hypomagnesemia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4580"	""	"35806288;35002148;35846113;24699222;34604137;32997713;21397062;33600043;37532502;35170241;34490037"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204580"	"2025-01-17"
"GENCC_000112-HGNC_103-OMIM_616418-HP_0000007-GENCC_100001"	"HGNC:103"	"CNNM2"	"MONDO:0020787"	"hypomagnesemia, seizures, and intellectual disability 1"	"OMIM:616418"	"Hypomagnesemia, seizures, and impaired intellectual development 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:103"	"CNNM2"	"OMIM:616418"	"CNNM2-related neurodevelopmental disorder with hypomagnesemia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4581"	""	"24699222;30026055"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204581"	"2025-01-17"
"GENCC_000112-HGNC_7877-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:7877"	"CNOT1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7877"	"CNOT1"	"MONDO:0700092"	"CNOT1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4565"	""	"32553196"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204565"	"2025-01-17"
"GENCC_000112-HGNC_7878-OMIM_618608-HP_0000006-GENCC_100002"	"HGNC:7878"	"CNOT2"	"MONDO:0032832"	"intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies"	"OMIM:618608"	"Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7878"	"CNOT2"	"OMIM:618608"	"CNOT2-related neurodevelopmental disorder with hypotonia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2024-02-10 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5124"	""	"21299754;31512373;36224108;31145527"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205124"	"2025-01-17"
"GENCC_000112-HGNC_7879-OMIM_618672-HP_0000006-GENCC_100001"	"HGNC:7879"	"CNOT3"	"MONDO:0032864"	"intellectual developmental disorder with speech delay, autism, and dysmorphic facies"	"OMIM:618672"	"Intellectual developmental disorder with speech delay, autism, and dysmorphic facies"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7879"	"CNOT3"	"OMIM:618672"	"CNOT3-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-01-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2084"	""	"36802310;37003183;38179413;32720325;31201375"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202084"	"2025-01-17"
"GENCC_000112-HGNC_11968-MONDO_0033369-HP_0000007-GENCC_100002"	"HGNC:11968"	"CNPY3"	"MONDO:0033369"	"developmental and epileptic encephalopathy, 60"	"MONDO:0033369"	"developmental and epileptic encephalopathy, 60"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11968"	"CNPY3"	"MONDO:0033369"	"CNPY3-related EARLY ONSET EPILEPTIC ENCEPHALOPATHY"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4013"	""	"29394991"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204013"	"2025-01-17"
"GENCC_000112-HGNC_29932-MONDO_0018307-HP_0000007-GENCC_100001"	"HGNC:29932"	"COASY"	"MONDO:0018307"	"neurodegeneration with brain iron accumulation"	"MONDO:0018307"	"neurodegeneration with brain iron accumulation"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29932"	"COASY"	"MONDO:0018307"	"COASY-related NEURODEGENERATION WITH BRAIN IRON ACCUMULATION"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=298"	""	"35499143;24360804"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200298"	"2025-01-17"
"GENCC_000112-HGNC_2190-MONDO_0018940-HP_0000007-GENCC_100002"	"HGNC:2190"	"COL13A1"	"MONDO:0018940"	"congenital myasthenic syndrome"	"MONDO:0018940"	"congenital myasthenic syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2190"	"COL13A1"	"MONDO:0018940"	"COL13A1-related Congenital Myasthenic Syndrome Type 19"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-01-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2035"	""	"26626625"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202035"	"2025-01-17"
"GENCC_000112-HGNC_2194-OMIM_619787-HP_0000007-GENCC_100001"	"HGNC:2194"	"COL17A1"	"MONDO:0030750"	"epidermolysis bullosa, junctional 4, intermediate"	"OMIM:619787"	"Epidermolysis bullosa, junctional 4, intermediate"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2194"	"COL17A1"	"OMIM:619787"	"COL17A1-related Epidermolysis Bullosa Junctional (atrophic benign)"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4236"	""	"30761300;7550320"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204236"	"2025-01-17"
"GENCC_000112-HGNC_2197-MONDO_0019019-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0019019"	"osteogenesis imperfecta"	"MONDO:0019019"	"osteogenesis imperfecta"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2197"	"COL1A1"	"MONDO:0019019"	"COL1A1-related osteogenesis imperfecta spectrum"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=28"	""	"1988452;9067755;2037280;9295084;3403550;8950680;2295701;7816518;8100209;12538651;8723681;3082886;2309707;2913053;1770532;15728585;21834035;11286507;15024692;2511192;8364588;8757037;8910493;8456809;7789952;2794057;18409203;8097422;8786074;1737847;3667599;1613761;2298750;3108247;1864604;7881420;8408653;2500431;1634225;1874719;2339700"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200028"	"2025-01-17"
"GENCC_000112-HGNC_2197-MONDO_0020066-HP_0000006-GENCC_100001"	"HGNC:2197"	"COL1A1"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2197"	"COL1A1"	"MONDO:0020066"	"COL1A1-related Classical Ehlers Danlos syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3841"	""	"10739762"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203841"	"2025-01-17"
"GENCC_000112-HGNC_2198-MONDO_0019019-HP_0000006-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0019019"	"osteogenesis imperfecta"	"MONDO:0019019"	"osteogenesis imperfecta"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2198"	"COL1A2"	"MONDO:0019019"	"COL1A2-related Osteogenesis imperfecta type IV"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4165"	""	"2897363"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204165"	"2025-01-17"
"GENCC_000112-HGNC_2198-OMIM_166210-HP_0000006-GENCC_100001"	"HGNC:2198"	"COL1A2"	"MONDO:0008147"	"osteogenesis imperfecta type 2"	"OMIM:166210"	"Osteogenesis imperfecta, type II"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2198"	"COL1A2"	"OMIM:166210"	"COL1A2-related osteogenesis imperfecta congenita type II"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4166"	""	"18996919"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204166"	"2025-01-17"
"GENCC_000112-HGNC_22986-MONDO_0014061-HP_0000007-GENCC_100001"	"HGNC:22986"	"COL27A1"	"MONDO:0014061"	"Steel syndrome"	"MONDO:0014061"	"Steel syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:22986"	"COL27A1"	"MONDO:0014061"	"COL27A1-related Steel Syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-01-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4452"	""	"28322503;24986830;31903681;28276056"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204452"	"2025-01-17"
"GENCC_000112-HGNC_2202-MONDO_0008289-HP_0000006-GENCC_100001"	"HGNC:2202"	"COL4A1"	"MONDO:0008289"	"brain small vessel disease 1 with or without ocular anomalies"	"MONDO:0008289"	"brain small vessel disease 1 with or without ocular anomalies"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2202"	"COL4A1"	"MONDO:0008289"	"COL4A1-related Brain small vessel disease with or without ocular anomalies"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-01-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3698"	""	"25124159;28043398;26708157;24374867;19477666"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203698"	"2025-01-17"
"GENCC_000112-HGNC_2207-MONDO_0018965-HP_0001417-GENCC_100001"	"HGNC:2207"	"COL4A5"	"MONDO:0018965"	"Alport syndrome"	"MONDO:0018965"	"Alport syndrome"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:2207"	"COL4A5"	"MONDO:0018965"	"COL4A5-related Alport syndrome x-linked"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-06-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3765"	""	"8651296;2349482;1474765"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203765"	"2025-01-17"
"GENCC_000112-HGNC_2209-MONDO_0020066-HP_0000006-GENCC_100001"	"HGNC:2209"	"COL5A1"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2209"	"COL5A1"	"MONDO:0020066"	"COL5A1-related classical Ehlers Danlos syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-06-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3766"	""	"22696272;8923000;10739762;15580559"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203766"	"2025-01-17"
"GENCC_000112-HGNC_2210-MONDO_0020066-HP_0000006-GENCC_100001"	"HGNC:2210"	"COL5A2"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2210"	"COL5A2"	"MONDO:0020066"	"COL5A2-related Classical Ehlers Danlos syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3843"	""	"22696272;15580559"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203843"	"2025-01-17"
"GENCC_000112-HGNC_2211-OMIM_158810-HP_0000006-GENCC_100001"	"HGNC:2211"	"COL6A1"	"MONDO:0024530"	"Bethlem myopathy 1A"	"OMIM:158810"	"Bethlem myopathy 1A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2211"	"COL6A1"	"OMIM:158810"	"COL6A1-related myopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-06-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2134"	""	"11932968;8782832;36779064;15955946"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202134"	"2025-01-17"
"GENCC_000112-HGNC_2212-OMIM_620727-HP_0000007-GENCC_100001"	"HGNC:2212"	"COL6A2"	"MONDO:0958235"	"Ullrich congenital muscular dystrophy 1B"	"OMIM:620727"	"Ullrich congenital muscular dystrophy 1B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2212"	"COL6A2"	"OMIM:620727"	"COL6A2-related muscular dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-07-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4724"	""	"19949035;32663882;37738610;11381124;12218063;20106987;16075202;34167565;20302629;19884007;36292982"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204724"	"2025-01-17"
"GENCC_000112-HGNC_2212-OMIM_620727-HP_0000006-GENCC_100001"	"HGNC:2212"	"COL6A2"	"MONDO:0958235"	"Ullrich congenital muscular dystrophy 1B"	"OMIM:620727"	"Ullrich congenital muscular dystrophy 1B"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2212"	"COL6A2"	"OMIM:620727"	"COL6A2-related muscular dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-07-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4725"	""	"20976770;15563506;38065855;34167565;18366090;19564581"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204725"	"2025-01-17"
"GENCC_000112-HGNC_2214-OMIM_226600-HP_0000007-GENCC_100001"	"HGNC:2214"	"COL7A1"	"MONDO:0009179"	"recessive dystrophic epidermolysis bullosa"	"OMIM:226600"	"Epidermolysis bullosa dystrophica, localisata variant"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2214"	"COL7A1"	"OMIM:226600"	"COL7A1-related epidermolysis bullosa dystrophica"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2699"	""	"7883979;8513326;21113014;25201089;22209565"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202699"	"2025-01-17"
"GENCC_000112-HGNC_2214-MONDO_0006541-HP_0000006-GENCC_100001"	"HGNC:2214"	"COL7A1"	"MONDO:0006541"	"epidermolysis bullosa"	"MONDO:0006541"	"epidermolysis bullosa"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2214"	"COL7A1"	"MONDO:0006541"	"COL7A1-related Epidermolysis Bullosa (Bart Type)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4102"	""	"8618021"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204102"	"2025-01-17"
"GENCC_000112-HGNC_2214-OMIM_131750-HP_0000006-GENCC_100001"	"HGNC:2214"	"COL7A1"	"MONDO:0007549"	"generalized dominant dystrophic epidermolysis bullosa"	"OMIM:131750"	"Epidermolysis bullosa dystrophica, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2214"	"COL7A1"	"OMIM:131750"	"COL7A1-related epidermolysis bullosa dystrophica"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4134"	""	"8170945"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204134"	"2025-01-17"
"GENCC_000112-HGNC_2214-MONDO_0011398-HP_0000006-GENCC_100001"	"HGNC:2214"	"COL7A1"	"MONDO:0011398"	"dystrophic epidermolysis bullosa pruriginosa"	"MONDO:0011398"	"dystrophic epidermolysis bullosa pruriginosa"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2214"	"COL7A1"	"MONDO:0011398"	"COL7A1-related Epidermolysis Bullosa Pruriginosa"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4243"	""	"10383749"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204243"	"2025-01-17"
"GENCC_000112-HGNC_2219-MONDO_0019354-HP_0000007-GENCC_100002"	"HGNC:2219"	"COL9A3"	"MONDO:0019354"	"Stickler syndrome"	"MONDO:0019354"	"Stickler syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2219"	"COL9A3"	"MONDO:0019354"	"COL9A3-related Stickler syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-07-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2760"	""	"24273071;31090205;30450842"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202760"	"2025-01-17"
"GENCC_000112-HGNC_2220-MONDO_0009554-HP_0000007-GENCC_100002"	"HGNC:2220"	"COLEC10"	"MONDO:0009554"	"3MC syndrome 3"	"MONDO:0009554"	"3MC syndrome 3"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2220"	"COLEC10"	"MONDO:0009554"	"COLEC10-related 3MC"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-09-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3567"	""	"35943032;28301481"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203567"	"2025-01-17"
"GENCC_000112-HGNC_2231-OMIM_619255-HP_0000007-GENCC_100004"	"HGNC:2231"	"COPB1"	"MONDO:0031002"	"Baralle-Macken syndrome"	"OMIM:619255"	"Baralle-Macken syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2231"	"COPB1"	"OMIM:619255"	"COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-03-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4688"	""	"33632302"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204688"	"2025-01-17"
"GENCC_000112-HGNC_2232-OMIM_619884-HP_0000006-GENCC_100002"	"HGNC:2232"	"COPB2"	"MONDO:0859253"	"osteoporosis, childhood- or juvenile-onset, with developmental delay"	"OMIM:619884"	"Osteoporosis, childhood- or juvenile-onset, with developmental delay"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2232"	"COPB2"	"OMIM:619884"	"COPB2-related developmental delay and osteopenia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-09-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4775"	""	"34450031"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204775"	"2025-01-17"
"GENCC_000112-HGNC_20213-OMIM_619355-HP_0000007-GENCC_100002"	"HGNC:20213"	"COX16"	"MONDO:0859160"	"mitochondrial complex IV deficiency, nuclear type 22"	"OMIM:619355"	"Mitochondrial complex IV deficiency, nuclear type 22"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20213"	"COX16"	"OMIM:619355"	"COX16-related developmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4628"	""	"33169484"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204628"	"2025-01-17"
"GENCC_000112-HGNC_23228-MONDO_0019503-HP_0000007-GENCC_100002"	"HGNC:23228"	"CPAMD8"	"MONDO:0019503"	"anterior segment dysgenesis"	"MONDO:0019503"	"anterior segment dysgenesis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23228"	"CPAMD8"	"MONDO:0019503"	"CPAMD8-related Anterior Segment Dysgenesis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-03-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2388"	""	"27839872"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202388"	"2025-01-17"
"GENCC_000112-HGNC_2326-OMIM_619876-HP_0000007-GENCC_100003"	"HGNC:2326"	"CPSF3"	"MONDO:0859250"	"neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	"OMIM:619876"	"Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2326"	"CPSF3"	"OMIM:619876"	"CPSF3-associated neurodevelopmental disorder with seizures and microcephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-02-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4821"	""	"35121750"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204821"	"2025-01-17"
"GENCC_000112-HGNC_2343-MONDO_0020242-HP_0000007-GENCC_100001"	"HGNC:2343"	"CRB1"	"MONDO:0020242"	"hereditary macular dystrophy"	"MONDO:0020242"	"hereditary macular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2343"	"CRB1"	"MONDO:0020242"	"CRB1-related Macular dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-10-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4330"	""	"29869924;26312378;29391521"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204330"	"2025-01-17"
"GENCC_000112-HGNC_18688-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:18688"	"CRB2"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18688"	"CRB2"	"MONDO:0019200"	"CRB2-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-01-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4000"	""	"30593785"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204000"	"2025-01-17"
"GENCC_000112-HGNC_14630-OMIM_620771-HP_0000007-GENCC_100003"	"HGNC:14630"	"CRELD1"	"MONDO:0958329"	"Jeffries-Lakhani neurodevelopmental syndrome"	"OMIM:620771"	"Jeffries-Lakhani neurodevelopmental syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14630"	"CRELD1"	"OMIM:620771"	"CRELD1-related neurodevelopmental disorder with hypotonia and seizures"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-05-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5156"	""	"37947183"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205156"	"2025-01-17"
"GENCC_000112-HGNC_2364-MONDO_0010091-HP_0000007-GENCC_100001"	"HGNC:2364"	"CRLF1"	"MONDO:0010091"	"Cold-induced sweating syndrome 1"	"MONDO:0010091"	"Cold-induced sweating syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2364"	"CRLF1"	"MONDO:0010091"	"CRLF1-related Cold induced sweating syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3824"	""	"17436251;17436252;12509788"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203824"	"2025-01-17"
"GENCC_000112-HGNC_16148-OMIM_620167-HP_0000007-GENCC_100004"	"HGNC:16148"	"CRLS1"	"MONDO:0859337"	"combined oxidative phosphorylation deficiency 57"	"OMIM:620167"	"Combined oxidative phosphorylation deficiency 57"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16148"	"CRLS1"	"OMIM:620167"	"CRLS1-related mitochondrial disorder "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-07-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5052"	""	"35147173"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205052"	"2025-01-17"
"GENCC_000112-HGNC_2383-MONDO_0020242-HP_0000006-GENCC_100001"	"HGNC:2383"	"CRX"	"MONDO:0020242"	"hereditary macular dystrophy"	"MONDO:0020242"	"hereditary macular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2383"	"CRX"	"MONDO:0020242"	"CRX-related Macular dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-10-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4329"	""	"25270190;30067412;28945142"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204329"	"2025-01-17"
"GENCC_000112-HGNC_2389-OMIM_613763-HP_0000007-GENCC_100004"	"HGNC:2389"	"CRYAB"	"MONDO:0013411"	"cataract 16 multiple types"	"OMIM:613763"	"Cataract 16, multiple types"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2389"	"CRYAB"	"OMIM:613763"	"CRYAB-related Cataract 16, multiple types"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-05-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2503"	""	"26402864;19461931"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202503"	"2025-01-17"
"GENCC_000112-HGNC_2396-MONDO_0012489-HP_0000006-GENCC_100001"	"HGNC:2396"	"CRYBA4"	"MONDO:0012489"	"cataract 23"	"MONDO:0012489"	"cataract 23"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2396"	"CRYBA4"	"MONDO:0012489"	"CRYBA4-related CATARACT 23"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2506"	""	"15452067;20577656;16960806"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202506"	"2025-01-17"
"GENCC_000112-HGNC_2409-MONDO_0014075-HP_0000006-GENCC_100004"	"HGNC:2409"	"CRYGB"	"MONDO:0014075"	"cataract 39 multiple types"	"MONDO:0014075"	"cataract 39 multiple types"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2409"	"CRYGB"	"MONDO:0014075"	"CRYGB-related Cataract 39, multiple types, autosomal dominant"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2764"	""	"23288985"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202764"	"2025-01-17"
"GENCC_000112-HGNC_2457-OMIM_617062-HP_0000006-GENCC_100001"	"HGNC:2457"	"CSNK2A1"	"MONDO:0014893"	"Okur-Chung neurodevelopmental syndrome"	"OMIM:617062"	"Okur-Chung neurodevelopmental syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2457"	"CSNK2A1"	"OMIM:617062"	"CSNK2A1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-01-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2085"	""	"32472542;31060130;29383814;28725024;29568000;27048600;34038195;37491870;37195306"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202085"	"2025-01-17"
"GENCC_000112-HGNC_2460-OMIM_618732-HP_0000006-GENCC_100002"	"HGNC:2460"	"CSNK2B"	"MONDO:0032889"	"Poirier-Bienvenu neurodevelopmental syndrome"	"OMIM:618732"	"Poirier-Bienvenu neurodevelopmental syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2460"	"CSNK2B"	"OMIM:618732"	"CSNK2B-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4384"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204384"	"2025-01-17"
"GENCC_000112-HGNC_2494-OMIM_617915-HP_0000006-GENCC_100002"	"HGNC:2494"	"CTBP1"	"MONDO:0060666"	"hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"OMIM:617915"	"Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2494"	"CTBP1"	"OMIM:617915"	"CTBP1-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4385"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204385"	"2025-01-17"
"GENCC_000112-HGNC_26169-MONDO_0015780-HP_0000007-GENCC_100001"	"HGNC:26169"	"CTC1"	"MONDO:0015780"	"dyskeratosis congenita"	"MONDO:0015780"	"dyskeratosis congenita"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26169"	"CTC1"	"MONDO:0015780"	"CTC1-related Dyskeratosis Congenita"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2023-01-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4994"	""	"22532422"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204994"	"2025-01-17"
"GENCC_000112-HGNC_13723-OMIM_615502-HP_0000006-GENCC_100001"	"HGNC:13723"	"CTCF"	"MONDO:0014213"	"intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome"	"OMIM:615502"	"Intellectual developmental disorder, autosomal dominant 21"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13723"	"CTCF"	"OMIM:615502"	"CTCF-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=586"	""	"23746550"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200586"	"2025-01-17"
"GENCC_000112-HGNC_2510-OMIM_618174-HP_0000007-GENCC_100002"	"HGNC:2510"	"CTNNA2"	"MONDO:0032578"	"cortical dysplasia, complex, with other brain malformations 9"	"OMIM:618174"	"Cortical dysplasia, complex, with other brain malformations 9"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2510"	"CTNNA2"	"OMIM:618174"	"CTNNA2-related disordered cortical neuronal migration"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3940"	""	"30013181"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203940"	"2025-01-17"
"GENCC_000112-HGNC_2514-MONDO_0019516-HP_0000006-GENCC_100001"	"HGNC:2514"	"CTNNB1"	"MONDO:0019516"	"exudative vitreoretinopathy"	"MONDO:0019516"	"exudative vitreoretinopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2514"	"CTNNB1"	"MONDO:0019516"	"CTNNB1-related Exudative vitreoretinopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-06-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2552"	""	"28575650;26967979"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202552"	"2025-01-17"
"GENCC_000112-HGNC_2515-OMIM_617681-HP_0000006-GENCC_100002"	"HGNC:2515"	"CTNND1"	"MONDO:0040503"	"blepharocheilodontic syndrome 2"	"OMIM:617681"	"Blepharocheilodontic syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2515"	"CTNND1"	"OMIM:617681"	"CTNND1-related blepharo-cheiro-dontic syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2519"	""	"29348693;28301459;32196547"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202519"	"2025-01-17"
"GENCC_000112-HGNC_2516-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:2516"	"CTNND2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2516"	"CTNND2"	"MONDO:0700092"	"CTNND2-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4582"	""	"25807484;25839933"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204582"	"2025-01-17"
"GENCC_000112-HGNC_16850-MONDO_0024676-HP_0000006-GENCC_100003"	"HGNC:16850"	"CTR9"	"MONDO:0024676"	"childhood kidney Wilms tumor"	"MONDO:0024676"	"childhood kidney Wilms tumor"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16850"	"CTR9"	"MONDO:0024676"	"CTR9-related Wilms tumour"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4937"	""	"29292210;25099282"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204937"	"2025-01-17"
"GENCC_000112-HGNC_16850-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:16850"	"CTR9"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16850"	"CTR9"	"MONDO:0700092"	"CTR9-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-05-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5160"	""	"35717577;35468861;35499524"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205160"	"2025-01-17"
"GENCC_000112-HGNC_2527-OMIM_148370-HP_0000006-GENCC_100004"	"HGNC:2527"	"CTSB"	"MONDO:0007854"	"keratolytic winter erythema"	"OMIM:148370"	"Keratolytic winter erythema"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2527"	"CTSB"	"OMIM:148370"	"CTSB-related Keratolytic winter erythema"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5291"	""	"32683719"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205291"	"2025-01-17"
"GENCC_000112-HGNC_2528-MONDO_0009491-HP_0000007-GENCC_100001"	"HGNC:2528"	"CTSC"	"MONDO:0009491"	"Haim-Munk syndrome"	"MONDO:0009491"	"Haim-Munk syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2528"	"CTSC"	"MONDO:0009491"	"CTSC-related Haim-Munk syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4141"	""	"10581027;10662807"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204141"	"2025-01-17"
"GENCC_000112-HGNC_2553-OMIM_619239-HP_0000006-GENCC_100001"	"HGNC:2553"	"CUL3"	"MONDO:0030994"	"neurodevelopmental disorder with or without autism or seizures"	"OMIM:619239"	"Neurodevelopmental disorder with or without autism or seizures"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2553"	"CUL3"	"OMIM:619239"	"CUL3-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4438"	""	"33097317;32341456;31696658;27824329"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204438"	"2025-01-17"
"GENCC_000112-HGNC_2557-MONDO_0032680-HP_0000006-GENCC_100004"	"HGNC:2557"	"CUX1"	"MONDO:0032680"	"global developmental delay with or without impaired intellectual development"	"MONDO:0032680"	"global developmental delay with or without impaired intellectual development"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2557"	"CUX1"	"MONDO:0032680"	"CUX1-related GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4537"	""	"30014507"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204537"	"2025-01-17"
"GENCC_000112-HGNC_19347-OMIM_618141-HP_0000006-GENCC_100002"	"HGNC:19347"	"CUX2"	"MONDO:0029138"	"developmental and epileptic encephalopathy, 67"	"OMIM:618141"	"Developmental and epileptic encephalopathy 67"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19347"	"CUX2"	"OMIM:618141"	"CUX2-related developmental epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-04-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3743"	""	"29630738"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203743"	"2025-01-17"
"GENCC_000112-HGNC_25613-OMIM_616127-HP_0000007-GENCC_100002"	"HGNC:25613"	"CWF19L1"	"MONDO:0014503"	"autosomal recessive spinocerebellar ataxia 17"	"OMIM:616127"	"Spinocerebellar ataxia, autosomal recessive 17"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25613"	"CWF19L1"	"OMIM:616127"	"CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2023-12-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5087"	""	"26197978;25361784;27016154;36453471;33012273"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205087"	"2025-01-17"
"GENCC_000112-HGNC_2577-OMIM_233690-HP_0000007-GENCC_100001"	"HGNC:2577"	"CYBA"	"MONDO:0009308"	"granulomatous disease, chronic, autosomal recessive, cytochrome b-negative"	"OMIM:233690"	"Chronic granulomatous disease 4, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2577"	"CYBA"	"OMIM:233690"	"CYBA-related chronic granulomatous disease cytochrome b negative"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3819"	""	"2243141;2770793"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203819"	"2025-01-17"
"GENCC_000112-HGNC_2578-MONDO_0010600-HP_0001417-GENCC_100001"	"HGNC:2578"	"CYBB"	"MONDO:0010600"	"granulomatous disease, chronic, X-linked"	"MONDO:0010600"	"granulomatous disease, chronic, X-linked"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:2578"	"CYBB"	"MONDO:0010600"	"CYBB-related Chronic granulomatous disease X linked"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3818"	""	"8807090;2556453;1710153"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203818"	"2025-01-17"
"GENCC_000112-HGNC_2602-MONDO_0020739-HP_0000007-GENCC_100004"	"HGNC:2602"	"CYP24A1"	"MONDO:0020739"	"hypercalcemia, infantile, 1"	"MONDO:0020739"	"hypercalcemia, infantile, 1"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2602"	"CYP24A1"	"MONDO:0020739"	"CYP24A1-related Hereditary 1,25-dihydroxyvitamin D-resistant rickets"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2016-09-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2148"	""	"27394135"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202148"	"2025-01-17"
"GENCC_000112-HGNC_2649-MONDO_0005129-HP_0000007-GENCC_100001"	"HGNC:2649"	"CYP51A1"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2649"	"CYP51A1"	"MONDO:0005129"	"CYP51A1-related Congenital cataract"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2493"	""	"27878435;25148791;22935719"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202493"	"2025-01-17"
"GENCC_000112-HGNC_17748-OMIM_617466-HP_0000006-GENCC_100004"	"HGNC:17748"	"DACT1"	"MONDO:0054582"	"Townes-Brocks syndrome 2"	"OMIM:617466"	"Townes-Brocks syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17748"	"DACT1"	"OMIM:617466"	"DACT1-related multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-10-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4326"	""	"28054444;22610794;36066768"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204326"	"2025-01-17"
"GENCC_000112-HGNC_26383-MONDO_0005308-HP_0000007-GENCC_100003"	"HGNC:26383"	"DAW1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26383"	"DAW1"	"MONDO:0005308"	"DAW1-associated ciliopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4992"	""	"36074124"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204992"	"2025-01-17"
"GENCC_000112-HGNC_2701-OMIM_617542-HP_0000007-GENCC_100002"	"HGNC:2701"	"DCC"	"MONDO:0054602"	"gaze palsy, familial horizontal, with progressive scoliosis, 2"	"OMIM:617542"	"Gaze palsy, familial horizontal, with progressive scoliosis, 2"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2701"	"DCC"	"OMIM:617542"	"DCC-related midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3125"	""	"28250456"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203125"	"2025-01-17"
"GENCC_000112-HGNC_17642-MONDO_0011338-HP_0000007-GENCC_100001"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011338"	"Omenn syndrome"	"MONDO:0011338"	"Omenn syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17642"	"DCLRE1C"	"MONDO:0011338"	"DCLRE1C-related Omenn syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4163"	""	"26476407;15731174"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204163"	"2025-01-17"
"GENCC_000112-HGNC_2717-OMIM_619426-HP_0000006-GENCC_100002"	"HGNC:2717"	"DDB1"	"MONDO:0859169"	"White-Kernohan syndrome"	"OMIM:619426"	"White-Kernohan syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2717"	"DDB1"	"OMIM:619426"	"DDB1-related neurodevelopmental syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-04-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4697"	""	"33743206"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204697"	"2025-01-17"
"GENCC_000112-HGNC_2731-OMIM_618175-HP_0000006-GENCC_100002"	"HGNC:2731"	"DDR2"	"MONDO:0032579"	"warburg-cinotti syndrome"	"OMIM:618175"	"Warburg-Cinotti syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2731"	"DDR2"	"OMIM:618175"	"DDR2-related Warburg-Cinotti syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5277"	""	"30449416"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205277"	"2025-01-17"
"GENCC_000112-HGNC_2745-MONDO_0001071-HP_0001417-GENCC_100001"	"HGNC:2745"	"DDX3X"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:2745"	"DDX3X"	"MONDO:0001071"	"DDX3X-related INTELLECTUAL DISABILITY"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=603"	""	"32600431;28371085;30349862;33789733;25533962;32896648;32714884;30817323;26235985;30936465;31274575"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200603"	"2025-01-17"
"GENCC_000112-HGNC_18674-MONDO_0014809-HP_0000006-GENCC_100001"	"HGNC:18674"	"DDX41"	"MONDO:0014809"	"DDX41-related hematologic malignancy predisposition syndrome"	"MONDO:0014809"	"DDX41-related hematologic malignancy predisposition syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18674"	"DDX41"	"MONDO:0014809"	"DDX41-related Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4948"	""	"26712909;25920683"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204948"	"2025-01-17"
"GENCC_000112-HGNC_25360-MONDO_0015375-HP_0000007-GENCC_100002"	"HGNC:25360"	"DDX59"	"MONDO:0015375"	"orofaciodigital syndrome"	"MONDO:0015375"	"orofaciodigital syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25360"	"DDX59"	"MONDO:0015375"	"DDX59-related OROFACIODIGITAL SYNDROME"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1874"	""	"23972372"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201874"	"2025-01-17"
"GENCC_000112-HGNC_2747-OMIM_618653-HP_0000006-GENCC_100002"	"HGNC:2747"	"DDX6"	"MONDO:0032851"	"intellectual developmental disorder with impaired language and dysmorphic facies"	"OMIM:618653"	"Intellectual developmental disorder with impaired language and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2747"	"DDX6"	"OMIM:618653"	"DDX6-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-06-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3780"	""	"31422817"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203780"	"2025-01-17"
"GENCC_000112-HGNC_14677-OMIM_617171-HP_0000007-GENCC_100002"	"HGNC:14677"	"DEAF1"	"MONDO:0014952"	"intellectual disability-epilepsy-extrapyramidal syndrome"	"OMIM:617171"	"Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14677"	"DEAF1"	"OMIM:617171"	"DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-04-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3746"	""	"26834045;26048982"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203746"	"2025-01-17"
"GENCC_000112-HGNC_19344-OMIM_617281-HP_0000007-GENCC_100002"	"HGNC:19344"	"DENND5A"	"MONDO:0015002"	"developmental and epileptic encephalopathy, 49"	"OMIM:617281"	"Developmental and epileptic encephalopathy 49"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19344"	"DENND5A"	"OMIM:617281"	"DENND5A-related epileptic encephalopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-03-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2389"	""	"27866705"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202389"	"2025-01-17"
"GENCC_000112-HGNC_2843-OMIM_615863-HP_0000007-GENCC_100004"	"HGNC:2843"	"DGAT1"	"MONDO:0014375"	"congenital diarrhea 7 with exudative enteropathy"	"OMIM:615863"	"Diarrhea 7, protein-losing enteropathy type"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2843"	"DGAT1"	"OMIM:615863"	"DGAT1-related congenital diarrheal disorder "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1570"	""	"23114594"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201570"	"2025-01-17"
"GENCC_000112-HGNC_20603-MONDO_0030922-HP_0000006-GENCC_100002"	"HGNC:20603"	"DHDDS"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20603"	"DHDDS"	"MONDO:0030922"	"DHDDS-related Epilepsy and intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3663"	""	"29100083"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203663"	"2025-01-17"
"GENCC_000112-HGNC_2869-OMIM_618480-HP_0000007-GENCC_100002"	"HGNC:2869"	"DHPS"	"MONDO:0032775"	"neurodevelopmental disorder with seizures and speech and walking impairment"	"OMIM:618480"	"Neurodevelopmental disorder with seizures and speech and walking impairment"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2869"	"DHPS"	"OMIM:618480"	"DHPS-related neurodevelopmental disorder of hypusination"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4069"	""	"30661771"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204069"	"2025-01-17"
"GENCC_000112-HGNC_17693-MONDO_0015469-HP_0000007-GENCC_100004"	"HGNC:17693"	"DHRS3"	"MONDO:0015469"	"craniosynostosis"	"MONDO:0015469"	"craniosynostosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17693"	"DHRS3"	"MONDO:0015469"	"DHRS3 related craniosynostosis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-10-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3625"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203625"	"2025-01-17"
"GENCC_000112-HGNC_2739-OMIM_618733-HP_0000006-GENCC_100004"	"HGNC:2739"	"DHX16"	"MONDO:0032890"	"neuromuscular disease and ocular or auditory anomalies with or without seizures"	"OMIM:618733"	"Neuromuscular disease and ocular or auditory anomalies with or without seizures"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2739"	"DHX16"	"OMIM:618733"	"DHX16-related Intellectual Disability, Central Nervous System anomalies and Seizures"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4247"	""	"31256877"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204247"	"2025-01-17"
"GENCC_000112-HGNC_16716-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:16716"	"DHX30"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16716"	"DHX30"	"MONDO:0700092"	"DHX30-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3664"	""	"29100085"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203664"	"2025-01-17"
"GENCC_000112-HGNC_16717-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:16717"	"DHX32"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16717"	"DHX32"	"MONDO:0019200"	"DHX32-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3673"	""	"29320387"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203673"	"2025-01-17"
"GENCC_000112-HGNC_16719-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:16719"	"DHX34"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16719"	"DHX34"	"MONDO:0001071"	"DHX34-related intellectual disability "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4249"	""	"31256877"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204249"	"2025-01-17"
"GENCC_000112-HGNC_17210-OMIM_618731-HP_0000007-GENCC_100004"	"HGNC:17210"	"DHX37"	"MONDO:0032888"	"neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies"	"OMIM:618731"	"Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17210"	"DHX37"	"OMIM:618731"	"DHX37-related Intellectual Disability and Central Nervous System anomalies"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4246"	""	"31256877"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204246"	"2025-01-17"
"GENCC_000112-HGNC_17211-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:17211"	"DHX38"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17211"	"DHX38"	"MONDO:0019200"	"DHX38-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2776"	""	"24737827"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202776"	"2025-01-17"
"GENCC_000112-HGNC_17098-MONDO_0100216-HP_0000006-GENCC_100001"	"HGNC:17098"	"DICER1"	"MONDO:0100216"	"DICER1-related tumor predisposition"	"MONDO:0100216"	"DICER1-related tumor predisposition"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17098"	"DICER1"	"MONDO:0100216"	"DICER1 Tumor Predisposition"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-11-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4983"	""	"21205968;9345104;26566882;19556464;21036787;21882293;25209242;25836323;9295070"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204983"	"2025-01-17"
"GENCC_000112-HGNC_2903-OMIM_618793-HP_0000006-GENCC_100002"	"HGNC:2903"	"DLG4"	"MONDO:0032919"	"intellectual developmental disorder 62"	"OMIM:618793"	"Intellectual developmental disorder, autosomal dominant 62"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2903"	"DLG4"	"OMIM:618793"	"DLG4-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-03-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2377"	""	"27479843"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202377"	"2025-01-17"
"GENCC_000112-HGNC_2904-OMIM_620703-HP_0000007-GENCC_100004"	"HGNC:2904"	"DLG5"	"MONDO:0958205"	"Yuksel-Vogel-Bauer syndrome"	"OMIM:620703"	"Yuksel-Vogel-Bauser syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2904"	"DLG5"	"OMIM:620703"	"DLG5-related developmental disorder "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-10-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4606"	""	"32631816;30791088"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204606"	"2025-01-17"
"GENCC_000112-HGNC_2908-OMIM_618709-HP_0000006-GENCC_100003"	"HGNC:2908"	"DLL1"	"MONDO:0032877"	"neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"OMIM:618709"	"Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2908"	"DLL1"	"OMIM:618709"	"DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4282"	""	"36590296;31353024;37204857"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204282"	"2025-01-17"
"GENCC_000112-HGNC_28570-OMIM_300991-HP_0001417-GENCC_100002"	"HGNC:28570"	"DNAAF6"	"MONDO:0010517"	"ciliary dyskinesia, primary, 36, X-linked"	"OMIM:300991"	"Ciliary dyskinesia, primary, 36, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:28570"	"DNAAF6"	"OMIM:300991"	"DNAAF6-related X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-03-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2393"	""	"28176794;28041644"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202393"	"2025-01-17"
"GENCC_000112-HGNC_2945-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:2945"	"DNAH14"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2945"	"DNAH14"	"MONDO:0700092"	"DNAH14-related Neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4900"	""	"35438214"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204900"	"2025-01-17"
"GENCC_000112-HGNC_2953-OMIM_618300-HP_0000007-GENCC_100001"	"HGNC:2953"	"DNAH9"	"MONDO:0032664"	"ciliary dyskinesia, primary, 40"	"OMIM:618300"	"Ciliary dyskinesia, primary, 40"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2953"	"DNAH9"	"OMIM:618300"	"DNAH9-related Motile Cilia Defects and Situs Inversus"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4054"	""	"30471717;30471718"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204054"	"2025-01-17"
"GENCC_000112-HGNC_30718-OMIM_617091-HP_0000007-GENCC_100004"	"HGNC:30718"	"DNAJB13"	"MONDO:0014909"	"primary ciliary dyskinesia 34"	"OMIM:617091"	"Ciliary dyskinesia, primary, 34"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30718"	"DNAJB13"	"OMIM:617091"	"DNAJB13-related primary ciliary dyskinesia and male infertility"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-02-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2353"	""	"27486783"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202353"	"2025-01-17"
"GENCC_000112-HGNC_14886-OMIM_620326-HP_0000007-GENCC_100004"	"HGNC:14886"	"DNAJB4"	"MONDO:0957224"	"congenital myopathy 21 with early respiratory failure"	"OMIM:620326"	"Congenital myopathy 21 with early respiratory failure"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14886"	"DNAJB4"	"OMIM:620326"	"DNAJB4-related myopathy with early respiratory failure"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-12-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4990"	""	"36264506"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204990"	"2025-01-17"
"GENCC_000112-HGNC_28908-OMIM_617384-HP_0000007-GENCC_100002"	"HGNC:28908"	"DNAJC12"	"MONDO:0044304"	"hyperphenylalaninemia due to DNAJC12 deficiency"	"OMIM:617384"	"Hyperphenylalaninemia, mild, non-BH4-deficient"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28908"	"DNAJC12"	"OMIM:617384"	"DNAJC12-related hyperphenylalaninemia, dystonia, and intellectual disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-04-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2395"	""	"28132689"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202395"	"2025-01-17"
"GENCC_000112-HGNC_2972-OMIM_616346-HP_0000006-GENCC_100002"	"HGNC:2972"	"DNM1"	"MONDO:0014598"	"developmental and epileptic encephalopathy, 31A"	"OMIM:616346"	"Developmental and epileptic encephalopathy 31A, autosomal dominant"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2972"	"DNM1"	"OMIM:616346"	"DNM1-associated microcephaly, developmental and epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=442"	""	"29427836;34172529;29397573;38009673;26611353;37248033;25262651;37132416;36413998;28667181;32909139;34386584;30455886;37039969"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200442"	"2025-01-17"
"GENCC_000112-HGNC_2972-OMIM_620352-HP_0000007-GENCC_100003"	"HGNC:2972"	"DNM1"	"MONDO:0957248"	"developmental and epileptic encephalopathy, 31B"	"OMIM:620352"	"Developmental and epileptic encephalopathy 31B, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2972"	"DNM1"	"OMIM:620352"	"DNM1-associated microcephaly, developmental and epileptic encephalopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-02-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5006"	""	"36553519;37900685;34172529;36413998"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205006"	"2025-01-17"
"GENCC_000112-HGNC_2973-OMIM_614388-HP_0000006-GENCC_100002"	"HGNC:2973"	"DNM1L"	"MONDO:0013726"	"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"OMIM:614388"	"Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2973"	"DNM1L"	"OMIM:614388"	"DNM1L-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4382"	""	"31587467;31475481;26604000;30939602;29877124;30850373;27328748;30801875;26992161"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204382"	"2025-01-17"
"GENCC_000112-HGNC_2978-OMIM_615879-HP_0000006-GENCC_100001"	"HGNC:2978"	"DNMT3A"	"MONDO:0014382"	"Tatton-Brown-Rahman overgrowth syndrome"	"OMIM:615879"	"Tatton-Brown-Rahman syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2978"	"DNMT3A"	"OMIM:615879"	"DNMT3A-related Tatton-Brown Rahman syndrome (overgrowth syndrome with intellectual disability)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=508"	""	"24614070;28475857;29900417"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200508"	"2025-01-17"
"GENCC_000112-HGNC_2978-OMIM_618724-HP_0000006-GENCC_100002"	"HGNC:2978"	"DNMT3A"	"MONDO:0032882"	"Heyn-Sproul-Jackson syndrome"	"OMIM:618724"	"Heyn-Sproul-Jackson syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2978"	"DNMT3A"	"OMIM:618724"	"DNMT3A-related microcephalic primordial dwarfism"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-11-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3970"	""	"30478443"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203970"	"2025-01-17"
"GENCC_000112-HGNC_19191-MONDO_0009478-HP_0000007-GENCC_100004"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"MONDO:0009478"	"combined immunodeficiency due to DOCK8 deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19191"	"DOCK8"	"MONDO:0009478"	"DOCK8-related Hyper-IgE recurrent infection syndrome, autosomal recessive"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-11-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4975"	""	"19776401"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204975"	"2025-01-17"
"GENCC_000112-HGNC_28662-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:28662"	"DOHH"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28662"	"DOHH"	"MONDO:0700092"	"DOHH-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4919"	""	"35858628"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204919"	"2025-01-17"
"GENCC_000112-HGNC_9964-OMIM_618027-HP_0000006-GENCC_100002"	"HGNC:9964"	"DPF2"	"MONDO:0054831"	"Coffin-Siris syndrome 7"	"OMIM:618027"	"Coffin-Siris syndrome 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9964"	"DPF2"	"OMIM:618027"	"DPF2-related Coffin-Siris like disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3774"	""	"35607970;29429572"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203774"	"2025-01-17"
"GENCC_000112-HGNC_24270-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:24270"	"DPH5"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24270"	"DPH5"	"MONDO:0700092"	"DPH5-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4902"	""	"35482014"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204902"	"2025-01-17"
"GENCC_000112-HGNC_20637-OMIM_619435-HP_0000006-GENCC_100002"	"HGNC:20637"	"DPYSL5"	"MONDO:0030331"	"Ritscher-Schinzel syndrome 4"	"OMIM:619435"	"Ritscher-Schinzel syndrome 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20637"	"DPYSL5"	"OMIM:619435"	"DPYSL5-related developmental disorder "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4404"	""	"33894126"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204404"	"2025-01-17"
"GENCC_000112-HGNC_3037-OMIM_613102-HP_0000007-GENCC_100003"	"HGNC:3037"	"DSC3"	"MONDO:0013136"	"hereditary hypotrichosis with recurrent skin vesicles"	"OMIM:613102"	"Hypotrichosis and recurrent skin vesicles"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3037"	"DSC3"	"OMIM:613102"	"DSC3-related Hypotrichosis and recurrent skin vesicles"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5286"	""	"31790667;19765682"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205286"	"2025-01-17"
"GENCC_000112-HGNC_14656-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:14656"	"DSCAML1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14656"	"DSCAML1"	"MONDO:0019200"	"DSCAML1-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3674"	""	"29320387"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203674"	"2025-01-17"
"GENCC_000112-HGNC_3048-OMIM_148700-HP_0000006-GENCC_100001"	"HGNC:3048"	"DSG1"	"MONDO:0007859"	"palmoplantar keratoderma i, striate, focal, or diffuse"	"OMIM:148700"	"Keratosis palmoplantaris striata I, AD"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3048"	"DSG1"	"OMIM:148700"	"DSG1-related PPK (striate)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4207"	""	"10332028"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204207"	"2025-01-17"
"GENCC_000112-HGNC_3050-OMIM_619226-HP_0000007-GENCC_100003"	"HGNC:3050"	"DSG3"	"MONDO:0030986"	"blistering, acantholytic, of oral and laryngeal mucosa"	"OMIM:619226"	"Blistering, acantholytic, of oral and laryngeal mucosa"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3050"	"DSG3"	"OMIM:619226"	"DSG3-related Blistering, acantholytic, of oral and laryngeal mucosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5282"	""	"30528827"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205282"	"2025-01-17"
"GENCC_000112-HGNC_21307-OMIM_607903-HP_0000007-GENCC_100001"	"HGNC:21307"	"DSG4"	"MONDO:0011932"	"hypotrichosis 6"	"OMIM:607903"	"Hypotrichosis 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21307"	"DSG4"	"OMIM:607903"	"DSG4-related hypotrichosis, localised"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4178"	""	"17392831;16575393"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204178"	"2025-01-17"
"GENCC_000112-HGNC_3052-MONDO_0011581-HP_0000006-GENCC_100001"	"HGNC:3052"	"DSP"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"MONDO:0011581"	"arrhythmogenic cardiomyopathy with wooly hair and keratoderma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3052"	"DSP"	"MONDO:0011581"	"DSP-related DCM"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2024-03-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5133"	""	"20716751;27532257;31317183;32005173;24503780;23022708;31983221;32013205"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205133"	"2025-01-17"
"GENCC_000112-HGNC_3052-MONDO_0011882-HP_0000007-GENCC_100001"	"HGNC:3052"	"DSP"	"MONDO:0011882"	"skin fragility-woolly hair-palmoplantar keratoderma syndrome"	"MONDO:0011882"	"skin fragility-woolly hair-palmoplantar keratoderma syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3052"	"DSP"	"MONDO:0011882"	"DSP-related Skin fragility, Woolly Hair"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3890"	""	"11841538;11063735;16175511"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203890"	"2025-01-17"
"GENCC_000112-HGNC_3052-OMIM_612908-HP_0000006-GENCC_100001"	"HGNC:3052"	"DSP"	"MONDO:0013034"	"keratosis palmoplantaris striata 2"	"OMIM:612908"	"Keratosis palmoplantaris striata II"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3052"	"DSP"	"OMIM:612908"	"DSP-related PPK (striate)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4208"	""	"9887343"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204208"	"2025-01-17"
"GENCC_000112-HGNC_29043-OMIM_270750-HP_0000007-GENCC_100002"	"HGNC:29043"	"DSTYK"	"MONDO:0010046"	"hereditary spastic paraplegia 23"	"OMIM:270750"	"Spastic paraplegia 23, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29043"	"DSTYK"	"OMIM:270750"	"DSTYK-related complicated spastic paraparesis "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4012"	""	"28157540"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204012"	"2025-01-17"
"GENCC_000112-HGNC_21862-MONDO_0014214-HP_0000007-GENCC_100001"	"HGNC:21862"	"DYNC2I1"	"MONDO:0014214"	"short-rib thoracic dysplasia 8 with or without polydactyly"	"MONDO:0014214"	"short-rib thoracic dysplasia 8 with or without polydactyly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21862"	"DYNC2I1"	"MONDO:0014214"	"DYNC2I1-related SHORT-RIB POLYDACTYLY"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=719"	""	"23910462"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200719"	"2025-01-17"
"GENCC_000112-HGNC_28296-OMIM_615633-HP_0000007-GENCC_100001"	"HGNC:28296"	"DYNC2I2"	"MONDO:0014287"	"short-rib thoracic dysplasia 11 with or without polydactyly"	"OMIM:615633"	"Short-rib thoracic dysplasia 11 with or without polydactyly"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28296"	"DYNC2I2"	"OMIM:615633"	"DYNC2I2-related severe asphyxiating thoracic dysplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1906"	""	"24183449"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201906"	"2025-01-17"
"GENCC_000112-HGNC_19087-OMIM_617330-HP_0000006-GENCC_100001"	"HGNC:19087"	"EBF3"	"MONDO:0015021"	"hypotonia, ataxia, and delayed development syndrome"	"OMIM:617330"	"Hypotonia, ataxia, and delayed development syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19087"	"EBF3"	"OMIM:617330"	"EBF3-related intellectual disability, ataxia, and facial dysmorphism"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-02-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2366"	""	"28017373;34367240;28487885;28017372;36937983;36317217;35340043;28017370;34177436;29162653;32366537"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202366"	"2025-01-17"
"GENCC_000112-HGNC_3151-MONDO_0014563-HP_0000007-GENCC_100001"	"HGNC:3151"	"ECHS1"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"MONDO:0014563"	"mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3151"	"ECHS1"	"MONDO:0014563"	"ECHS1-related MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-11-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4353"	""	"25393721;29575569;26000322;35856138;25125611"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204353"	"2025-01-17"
"GENCC_000112-HGNC_2895-OMIM_129490-HP_0000006-GENCC_100001"	"HGNC:2895"	"EDAR"	"MONDO:0007509"	"ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	"OMIM:129490"	"Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2895"	"EDAR"	"OMIM:129490"	"EDAR-related hypohidrotic ectodermal dysplasia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-11-26 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4441"	""	"33205897;32906216;24641098;24884697;26336973;16435307;33943035;32325225;18231121;10431241;20979233;27168349"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204441"	"2025-01-17"
"GENCC_000112-HGNC_3178-MONDO_0018094-HP_0000006-GENCC_100001"	"HGNC:3178"	"EDN3"	"MONDO:0018094"	"Waardenburg syndrome"	"MONDO:0018094"	"Waardenburg syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3178"	"EDN3"	"MONDO:0018094"	"EDN3-related Waardenburg syndrome type IV"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3906"	""	"8630502"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203906"	"2025-01-17"
"GENCC_000112-HGNC_3180-MONDO_0018094-HP_0000006-GENCC_100001"	"HGNC:3180"	"EDNRB"	"MONDO:0018094"	"Waardenburg syndrome"	"MONDO:0018094"	"Waardenburg syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3180"	"EDNRB"	"MONDO:0018094"	"EDNRB-related Waardenburg syndrome type IV"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3905"	""	"8001158"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203905"	"2025-01-17"
"GENCC_000112-HGNC_3180-OMIM_277580-HP_0000007-GENCC_100001"	"HGNC:3180"	"EDNRB"	"MONDO:0010192"	"Waardenburg syndrome type 4A"	"OMIM:277580"	"Waardenburg syndrome, type 4A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3180"	"EDNRB"	"OMIM:277580"	"EDNRB-related Waardenburg syndrome type IV"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-01-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4645"	""	"8001158"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204645"	"2025-01-17"
"GENCC_000112-HGNC_3188-OMIM_617561-HP_0000006-GENCC_100002"	"HGNC:3188"	"EED"	"MONDO:0060510"	"Cohen-Gibson syndrome"	"OMIM:617561"	"Cohen-Gibson syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3188"	"EED"	"OMIM:617561"	"EED-related Weaver-like overgrowth syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3096"	""	"27868325;27193220;28475857;25787343"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203096"	"2025-01-17"
"GENCC_000112-HGNC_3192-MONDO_0014625-HP_0000006-GENCC_100002"	"HGNC:3192"	"EEF1A2"	"MONDO:0014625"	"developmental and epileptic encephalopathy, 33"	"MONDO:0014625"	"developmental and epileptic encephalopathy, 33"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3192"	"EEF1A2"	"MONDO:0014625"	"EEF1A2-related INFANTILE EPILEPTIC ENCEPHALOPATHY"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1963"	""	"23647072;32196822"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201963"	"2025-01-17"
"GENCC_000112-HGNC_3208-MONDO_0019502-HP_0000007-GENCC_100004"	"HGNC:3208"	"EEF1B2"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"MONDO:0019502"	"autosomal recessive non-syndromic intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3208"	"EEF1B2"	"MONDO:0019502"	"EEF1B2-related intellectual developmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=746"	""	"21937992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200746"	"2025-01-17"
"GENCC_000112-HGNC_3236-MONDO_0008903-HP_0000006-GENCC_100001"	"HGNC:3236"	"EGFR"	"MONDO:0008903"	"lung cancer"	"MONDO:0008903"	"lung cancer"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3236"	"EGFR"	"MONDO:0008903"	"EGFR-related Nonsmall cell lung cancer, susceptibility to"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4951"	""	"16258541"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204951"	"2025-01-17"
"GENCC_000112-HGNC_3236-OMIM_616069-HP_0000007-GENCC_100004"	"HGNC:3236"	"EGFR"	"MONDO:0014481"	"inflammatory skin and bowel disease, neonatal, 2"	"OMIM:616069"	"Neonatal nephrocutaneous inflammatory syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3236"	"EGFR"	"OMIM:616069"	"EGFR-related Inflammatory Skin and Bowel Disease, neonatal, 2"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5249"	""	"24691054"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205249"	"2025-01-17"
"GENCC_000112-HGNC_24650-MONDO_0012455-HP_0000006-GENCC_100001"	"HGNC:24650"	"EHMT1"	"MONDO:0012455"	"Kleefstra syndrome"	"MONDO:0012455"	"Kleefstra syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:24650"	"EHMT1"	"MONDO:0012455"	"EHMT1-related Kleefstra syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=421"	""	"19264732;23232695;25349628;28361099;28498556;27123477;30370152;29416845;28361100;34265435;16826528;27651234"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200421"	"2025-01-17"
"GENCC_000112-HGNC_24921-OMIM_618878-HP_0000006-GENCC_100004"	"HGNC:24921"	"EIF2AK1"	"MONDO:0030036"	"leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"	"OMIM:618878"	"?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:24921"	"EIF2AK1"	"OMIM:618878"	"EIF2AK1-related neurodevelopmental syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-04-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4483"	""	"32197074"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204483"	"2025-01-17"
"GENCC_000112-HGNC_9437-OMIM_618877-HP_0000006-GENCC_100002"	"HGNC:9437"	"EIF2AK2"	"MONDO:0030035"	"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"OMIM:618877"	"Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9437"	"EIF2AK2"	"OMIM:618877"	"EIF2AK2-related developmental delay, leukoencephalopathy, and neurologic decompensation"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-04-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4484"	""	"32197074"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204484"	"2025-01-17"
"GENCC_000112-HGNC_3258-MONDO_0800448-HP_0000007-GENCC_100002"	"HGNC:3258"	"EIF2B2"	"MONDO:0800448"	"leukoencephalopathy with vanishing white matter"	"MONDO:0800448"	"leukoencephalopathy with vanishing white matter"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3258"	"EIF2B2"	"MONDO:0800448"	"EIF2B2-related Leukoencephalopathy with vanishing white matter"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-10-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4313"	""	"28041799;14566705;21484434"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204313"	"2025-01-17"
"GENCC_000112-HGNC_3260-OMIM_620314-HP_0000007-GENCC_100001"	"HGNC:3260"	"EIF2B4"	"MONDO:0957872"	"leukoencephalopathy with vanishing white matter 4"	"OMIM:620314"	"Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3260"	"EIF2B4"	"OMIM:620314"	"EIF2B4-related leukoencephalopathy with vanishing white matter"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4521"	""	"18539998;31385086;25089094;14572143;30073106;26043506"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204521"	"2025-01-17"
"GENCC_000112-HGNC_3261-OMIM_620315-HP_0000007-GENCC_100001"	"HGNC:3261"	"EIF2B5"	"MONDO:0957873"	"leukoencephalopathy with vanishing white matter 5"	"OMIM:620315"	"Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3261"	"EIF2B5"	"OMIM:620315"	"EIF2B5-related leukoencephalopathy with vanishing white matter"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4522"	""	"25457085;15776425;25089094;25230711;25758335;14572143;28939701"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204522"	"2025-01-17"
"GENCC_000112-HGNC_3267-OMIM_300148-HP_0001417-GENCC_100002"	"HGNC:3267"	"EIF2S3"	"MONDO:0010258"	"MEHMO syndrome"	"OMIM:300148"	"MEHMO syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:3267"	"EIF2S3"	"OMIM:300148"	"EIF2S3-related syndromic intellectual disability with severe microcephaly"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-11-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2169"	""	"23063529;27333055"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202169"	"2025-01-17"
"GENCC_000112-HGNC_3275-OMIM_618295-HP_0000007-GENCC_100002"	"HGNC:3275"	"EIF3F"	"MONDO:0032662"	"intellectual developmental disorder, autosomal recessive 67"	"OMIM:618295"	"Intellectual developmental disorder, autosomal recessive 67"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3275"	"EIF3F"	"OMIM:618295"	"EIF3F-related developmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-06-10 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4089"	""	"30409806"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204089"	"2025-01-17"
"GENCC_000112-HGNC_3284-OMIM_620455-HP_0000006-GENCC_100003"	"HGNC:3284"	"EIF4A2"	"MONDO:0957541"	"neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"OMIM:620455"	"Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3284"	"EIF4A2"	"OMIM:620455"	"EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy  "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-08-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5064"	""	"36528028"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205064"	"2025-01-17"
"GENCC_000112-HGNC_3284-OMIM_620455-HP_0000007-GENCC_100004"	"HGNC:3284"	"EIF4A2"	"MONDO:0957541"	"neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"OMIM:620455"	"Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3284"	"EIF4A2"	"OMIM:620455"	"EIF4A2-related neurodevelopmental disorder "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-08-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5065"	""	"36528028"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205065"	"2025-01-17"
"GENCC_000112-HGNC_3300-OMIM_619376-HP_0000006-GENCC_100002"	"HGNC:3300"	"EIF5A"	"MONDO:0859163"	"Faundes-Banka syndrome"	"OMIM:619376"	"Faundes-Banka syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3300"	"EIF5A"	"OMIM:619376"	"EIF5A-related craniofacial-neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-02-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4677"	""	"33547280"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204677"	"2025-01-17"
"GENCC_000112-HGNC_14198-OMIM_615440-HP_0000007-GENCC_100001"	"HGNC:14198"	"ELAC2"	"MONDO:0014190"	"combined oxidative phosphorylation defect type 17"	"OMIM:615440"	"Combined oxidative phosphorylation deficiency 17"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14198"	"ELAC2"	"OMIM:615440"	"ELAC2-related infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1023"	""	"23849775;27769300"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201023"	"2025-01-17"
"GENCC_000112-HGNC_3309-MONDO_0001475-HP_0000006-GENCC_100002"	"HGNC:3309"	"ELANE"	"MONDO:0001475"	"neutropenia"	"MONDO:0001475"	"neutropenia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3309"	"ELANE"	"MONDO:0001475"	"ELANE-related neutropenia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4931"	""	"15642668"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204931"	"2025-01-17"
"GENCC_000112-HGNC_17233-OMIM_606893-HP_0000007-GENCC_100002"	"HGNC:17233"	"ELMO2"	"MONDO:0011744"	"primary intraosseous venous malformation"	"OMIM:606893"	"Vascular malformation, primary intraosseous"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17233"	"ELMO2"	"OMIM:606893"	"ELMO2-related intraosseous vascular malformation"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2349"	""	"27476657"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202349"	"2025-01-17"
"GENCC_000112-HGNC_5959-OMIM_223900-HP_0000006-GENCC_100001"	"HGNC:5959"	"ELP1"	"MONDO:0009131"	"Riley-Day syndrome"	"OMIM:223900"	"Dysautonomia, familial"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5959"	"ELP1"	"OMIM:223900"	" ELP1-related familial dysautonomia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-01-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3687"	""	"11179008;12687659;11179021"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203687"	"2025-01-17"
"GENCC_000112-HGNC_5959-MONDO_0009131-HP_0000007-GENCC_100001"	"HGNC:5959"	"ELP1"	"MONDO:0009131"	"Riley-Day syndrome"	"MONDO:0009131"	"Riley-Day syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5959"	"ELP1"	"MONDO:0009131"	"ELP1-related Neuropathy, hereditary sensory and autonomic, type III"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4158"	""	"11179008;11179021"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204158"	"2025-01-17"
"GENCC_000112-HGNC_18248-OMIM_617270-HP_0000007-GENCC_100004"	"HGNC:18248"	"ELP2"	"MONDO:0014996"	"intellectual disability, autosomal recessive 58"	"OMIM:617270"	"Intellectual developmental disorder, autosomal recessive 58"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18248"	"ELP2"	"OMIM:617270"	"ELP2-related intellectual developmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=948"	""	"21937992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200948"	"2025-01-17"
"GENCC_000112-HGNC_27609-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:27609"	"EMC10"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:27609"	"EMC10"	"MONDO:0700092"	"EMC10-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-02-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4678"	""	"33531666;35124540;32869858;35684946"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204678"	"2025-01-17"
"GENCC_000112-HGNC_3349-OMIM_187300-HP_0000006-GENCC_100001"	"HGNC:3349"	"ENG"	"MONDO:0008535"	"telangiectasia, hereditary hemorrhagic, type 1"	"OMIM:187300"	"Telangiectasia, hereditary hemorrhagic, type 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3349"	"ENG"	"OMIM:187300"	"ENG-related hereditary haemorrhagic telangiectasia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3878"	""	"7894484"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203878"	"2025-01-17"
"GENCC_000112-HGNC_3356-OMIM_615522-HP_0000006-GENCC_100002"	"HGNC:3356"	"ENPP1"	"MONDO:0014227"	"hypopigmentation-punctate palmoplantar keratoderma syndrome"	"OMIM:615522"	"Cole disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3356"	"ENPP1"	"OMIM:615522"	"ENPP1-related Cole disease"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5242"	""	"24075184;28964717;32598042"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205242"	"2025-01-17"
"GENCC_000112-HGNC_28526-MONDO_0007034-HP_0000007-GENCC_100001"	"HGNC:28526"	"EOGT"	"MONDO:0007034"	"Adams-Oliver syndrome"	"MONDO:0007034"	"Adams-Oliver syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28526"	"EOGT"	"MONDO:0007034"	"EOGT-related ADAMS OLIVER SYNDROME"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1028"	""	"23522784"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201028"	"2025-01-17"
"GENCC_000112-HGNC_3372-MONDO_0015745-HP_0000007-GENCC_100004"	"HGNC:3372"	"EOMES"	"MONDO:0015745"	"microcephaly-polymicrogyria-corpus callosum agenesis syndrome"	"MONDO:0015745"	"microcephaly-polymicrogyria-corpus callosum agenesis syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3372"	"EOMES"	"MONDO:0015745"	"EOMES-related POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1971"	""	"17353897"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201971"	"2025-01-17"
"GENCC_000112-HGNC_3373-MONDO_0019200-HP_0000006-GENCC_100004"	"HGNC:3373"	"EP300"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3373"	"EP300"	"MONDO:0019200"	"EP300-related Retinitis pigmentosa"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3675"	""	"29320387"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203675"	"2025-01-17"
"GENCC_000112-HGNC_3378-OMIM_614257-HP_0000006-GENCC_100004"	"HGNC:3378"	"EPB41L1"	"MONDO:0013658"	"intellectual disability, autosomal dominant 11"	"OMIM:614257"	"?Intellectual developmental disorder, autosomal dominant 11"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3378"	"EPB41L1"	"OMIM:614257"	"EPB41L1-related intellectual disability "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-05-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2514"	""	"21376300"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202514"	"2025-01-17"
"GENCC_000112-HGNC_11529-OMIM_613244-HP_0000006-GENCC_100001"	"HGNC:11529"	"EPCAM"	"MONDO:0013196"	"Lynch syndrome 8"	"OMIM:613244"	"Lynch syndrome 8"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11529"	"EPCAM"	"OMIM:613244"	"EPCAM-related COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2211"	""	"19098912;21309036"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202211"	"2025-01-17"
"GENCC_000112-HGNC_3386-OMIM_116600-HP_0000006-GENCC_100001"	"HGNC:3386"	"EPHA2"	"MONDO:0007288"	"cataract 6 multiple types"	"OMIM:116600"	"Cataract 6, multiple types"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3386"	"EPHA2"	"OMIM:116600"	"EPHA2-related cataract"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2501"	""	"19005574;30450742;28418495;20361013;31555371;19306328"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202501"	"2025-01-17"
"GENCC_000112-HGNC_3418-MONDO_0054782-HP_0000007-GENCC_100002"	"HGNC:3418"	"EPRS1"	"MONDO:0054782"	"leukodystrophy, hypomyelinating, 15"	"MONDO:0054782"	"leukodystrophy, hypomyelinating, 15"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3418"	"EPRS1"	"MONDO:0054782"	"EPRS1-related Hypomyelinating Leukodystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4016"	""	"29576217"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204016"	"2025-01-17"
"GENCC_000112-HGNC_21297-OMIM_612841-HP_0000006-GENCC_100004"	"HGNC:21297"	"EPS8L3"	"MONDO:0013017"	"hypotrichosis 5"	"OMIM:612841"	"?Hypotrichosis 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:21297"	"EPS8L3"	"OMIM:612841"	"EPS8L3-related Marie Unna hereditary hypotrichosis type 5"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5304"	""	"23099647"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205304"	"2025-01-17"
"GENCC_000112-HGNC_3431-OMIM_243180-HP_0000007-GENCC_100002"	"HGNC:3431"	"ERBB3"	"MONDO:8000011"	"visceral neuropathy, familial, 1, autosomal recessive"	"OMIM:243180"	"Visceral neuropathy, familial, 1, autosomal recessive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3431"	"ERBB3"	"OMIM:243180"	"ERBB3-related Hirschprung disease with intestinal pseudo-obstruction"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-11-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3966"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203966"	"2025-01-17"
"GENCC_000112-HGNC_3434-MONDO_0010212-HP_0000007-GENCC_100001"	"HGNC:3434"	"ERCC2"	"MONDO:0010212"	"xeroderma pigmentosum group D"	"MONDO:0010212"	"xeroderma pigmentosum group D"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3434"	"ERCC2"	"MONDO:0010212"	"ERCC2-related XERODERMA PIGMENTOSUM, GROUP D"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2212"	""	"11443545;11709541;7849702;9101292;7585650"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202212"	"2025-01-17"
"GENCC_000112-HGNC_3435-OMIM_616390-HP_0000007-GENCC_100001"	"HGNC:3435"	"ERCC3"	"MONDO:0014615"	"trichothiodystrophy 2, photosensitive"	"OMIM:616390"	"Trichothiodystrophy 2, photosensitive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3435"	"ERCC3"	"OMIM:616390"	"ERCC3-related TRICHOTHIODYSTROPHY, PHOTOSENSITIVE"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-26 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2792"	""	"9012405;16947863;4811796;8408834"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202792"	"2025-01-17"
"GENCC_000112-HGNC_3436-MONDO_0010215-HP_0000007-GENCC_100001"	"HGNC:3436"	"ERCC4"	"MONDO:0010215"	"xeroderma pigmentosum group F"	"MONDO:0010215"	"xeroderma pigmentosum group F"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3436"	"ERCC4"	"MONDO:0010215"	"ERCC4-related Xeroderma pigmentosum group F"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3917"	""	"8797827"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203917"	"2025-01-17"
"GENCC_000112-HGNC_3444-OMIM_600775-HP_0000006-GENCC_100001"	"HGNC:3444"	"ERF"	"MONDO:0010929"	"craniosynostosis 4"	"OMIM:600775"	"Craniosynostosis 4"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3444"	"ERF"	"OMIM:600775"	"ERF-related complex craniosynostosis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1879"	""	"35852485;23354439"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201879"	"2025-01-17"
"GENCC_000112-HGNC_3444-MONDO_0014956-HP_0000006-GENCC_100001"	"HGNC:3444"	"ERF"	"MONDO:0014956"	"Chitayat syndrome"	"MONDO:0014956"	"Chitayat syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3444"	"ERF"	"MONDO:0014956"	"ERF-related Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2730"	""	"27738187"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202730"	"2025-01-17"
"GENCC_000112-HGNC_23994-OMIM_620663-HP_0000007-GENCC_100003"	"HGNC:23994"	"ERI1"	"MONDO:0958006"	"spondyloepimetaphyseal dysplasia, Guo-Campeau type"	"OMIM:620663"	"Spondyloepimetaphyseal dysplasia, Guo-Campeau type"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23994"	"ERI1"	"OMIM:620663"	"ERI1-related severe growth restriction and skeletal dysplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-03-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5139"	""	"37352860"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205139"	"2025-01-17"
"GENCC_000112-HGNC_23994-OMIM_620662-HP_0000007-GENCC_100003"	"HGNC:23994"	"ERI1"	"MONDO:0958005"	"Hoxha-Aliu syndrome"	"OMIM:620662"	"Hoxha-Aliu syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23994"	"ERI1"	"OMIM:620662"	"ERI1-related brachydactyly and mild neurodevelopmental delay"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-03-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5140"	""	"37352860;36208065;28488351"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205140"	"2025-01-17"
"GENCC_000112-HGNC_1356-OMIM_611225-HP_0000007-GENCC_100004"	"HGNC:1356"	"ERLIN2"	"MONDO:0012639"	"hereditary spastic paraplegia 18"	"OMIM:611225"	"Spastic paraplegia 18B, autosomal recessive"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1356"	"ERLIN2"	"OMIM:611225"	"ERLIN2-related intellectual developmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=38"	""	"21937992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200038"	"2025-01-17"
"GENCC_000112-HGNC_17097-OMIM_617763-HP_0000007-GENCC_100004"	"HGNC:17097"	"EXOSC2"	"MONDO:0044634"	"retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"	"OMIM:617763"	"Short stature, hearing loss, retinitis pigmentosa, and distinctive facies"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17097"	"EXOSC2"	"OMIM:617763"	"EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-12-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4989"	""	"36069504;26843489"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204989"	"2025-01-17"
"GENCC_000112-HGNC_17944-OMIM_614678-HP_0000007-GENCC_100001"	"HGNC:17944"	"EXOSC3"	"MONDO:0013853"	"pontocerebellar hypoplasia type 1B"	"OMIM:614678"	"Pontocerebellar hypoplasia, type 1B"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17944"	"EXOSC3"	"OMIM:614678"	"EXOSC3-related pontocerebellar hypoplasia "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=892"	""	"34085948"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200892"	"2025-01-17"
"GENCC_000112-HGNC_17035-OMIM_616081-HP_0000007-GENCC_100003"	"HGNC:17035"	"EXOSC8"	"MONDO:0014485"	"pontocerebellar hypoplasia, type 1C"	"OMIM:616081"	"Pontocerebellar hypoplasia, type 1C"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17035"	"EXOSC8"	"OMIM:616081"	"EXOSC8-related pontocerebellar hypoplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-11-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5204"	""	"38017281;24989451;34210538"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205204"	"2025-01-17"
"GENCC_000112-HGNC_9137-OMIM_618065-HP_0000007-GENCC_100002"	"HGNC:9137"	"EXOSC9"	"MONDO:0054844"	"pontocerebellar hypoplasia, type 1D"	"OMIM:618065"	"Pontocerebellar hypoplasia, type 1D"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9137"	"EXOSC9"	"OMIM:618065"	"EXOSC9-related cerebellar atrophy with spinal motor neuronopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4019"	""	"29727687"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204019"	"2025-01-17"
"GENCC_000112-HGNC_3518-OMIM_617425-HP_0000007-GENCC_100002"	"HGNC:3518"	"EXTL3"	"MONDO:0044312"	"immunoskeletal dysplasia with neurodevelopmental abnormalities"	"OMIM:617425"	"Immunoskeletal dysplasia with neurodevelopmental abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3518"	"EXTL3"	"OMIM:617425"	"EXTL3-related neuro immuno skeletal dysplasia syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4011"	""	"28132690"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204011"	"2025-01-17"
"GENCC_000112-HGNC_21555-MONDO_0019200-HP_0000007-GENCC_100001"	"HGNC:21555"	"EYS"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21555"	"EYS"	"MONDO:0019200"	"EYS-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2404"	""	"18836446;24652164;20537394;18976725;27375351;21519034;29159838;20237254"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202404"	"2025-01-17"
"GENCC_000112-HGNC_24200-OMIM_615704-HP_0000006-GENCC_100003"	"HGNC:24200"	"FAM111B"	"MONDO:0014310"	"hereditary sclerosing poikiloderma with tendon and pulmonary involvement"	"OMIM:615704"	"Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:24200"	"FAM111B"	"OMIM:615704"	"FAM111B-related Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis  (POIKTMP)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5244"	""	"31392773;26471370"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205244"	"2025-01-17"
"GENCC_000112-HGNC_29162-OMIM_618763-HP_0000007-GENCC_100002"	"HGNC:29162"	"FAM149B1"	"MONDO:0032902"	"Joubert syndrome 36"	"OMIM:618763"	"Joubert syndrome 36"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29162"	"FAM149B1"	"OMIM:618763"	"FAM149B1-related ciliopathy-related syndromic intellectual disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4276"	""	"30905400"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204276"	"2025-01-17"
"GENCC_000112-HGNC_3583-OMIM_300514-HP_0001417-GENCC_100001"	"HGNC:3583"	"FANCB"	"MONDO:0010351"	"Fanconi anemia complementation group B"	"OMIM:300514"	"Fanconi anemia, complementation group B"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:3583"	"FANCB"	"OMIM:300514"	"FANCB-related Fanconi anemia"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=8"	""	"25168418;22052692;16679491;15502827;29193904;23613520;36135330;24584348;26683739;30792206;32106311;21910217;29232005"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200008"	"2025-01-17"
"GENCC_000112-HGNC_26222-OMIM_616154-HP_0000007-GENCC_100001"	"HGNC:26222"	"FAR1"	"MONDO:0014510"	"fatty acyl-CoA reductase 1 deficiency"	"OMIM:616154"	"Peroxisomal fatty acyl-CoA reductase 1 disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26222"	"FAR1"	"OMIM:616154"	"FAR1-relayed severe intellectual disability, epilepsy, and cataracts"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1087"	""	"25439727"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201087"	"2025-01-17"
"GENCC_000112-HGNC_11920-MONDO_0017979-HP_0000006-GENCC_100001"	"HGNC:11920"	"FAS"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11920"	"FAS"	"MONDO:0017979"	"FAS-related autoimmune lymphoproliferative syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3802"	""	"10709732;8929361;20360470;39060684;7540117"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203802"	"2025-01-17"
"GENCC_000112-HGNC_11920-MONDO_0017979-HP_0000007-GENCC_100001"	"HGNC:11920"	"FAS"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"MONDO:0017979"	"autoimmune lymphoproliferative syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11920"	"FAS"	"MONDO:0017979"	"FAS-related Autoimmune lymphoproliferative syndrome type IA (biallelic, dominant negative)"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-01-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4646"	""	"8929361;10709732;20360470;7540117"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204646"	"2025-01-17"
"GENCC_000112-HGNC_3602-OMIM_219100-HP_0000007-GENCC_100001"	"HGNC:3602"	"FBLN5"	"MONDO:0009052"	"cutis laxa, autosomal recessive, type 1A"	"OMIM:219100"	"Cutis laxa, autosomal recessive, type IA"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3602"	"FBLN5"	"OMIM:219100"	"FBLN5-related cutis laxa type I "	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3828"	""	"22829427;12189163"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203828"	"2025-01-17"
"GENCC_000112-HGNC_13601-OMIM_615471-HP_0000007-GENCC_100001"	"HGNC:13601"	"FBXL4"	"MONDO:0014198"	"mitochondrial DNA depletion syndrome 13"	"OMIM:615471"	"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13601"	"FBXL4"	"OMIM:615471"	"FBXL4-related fatal encephalopathy, lactic acidosis, and severe mitochondrial DNA depletion in muscle"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1604"	""	"23993194"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201604"	"2025-01-17"
"GENCC_000112-HGNC_13590-OMIM_618089-HP_0000006-GENCC_100001"	"HGNC:13590"	"FBXO11"	"MONDO:0060760"	"intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"OMIM:618089"	"Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13590"	"FBXO11"	"OMIM:618089"	"FBXO11-related variable neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4037"	""	"30679813;30057029;27620904"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204037"	"2025-01-17"
"GENCC_000112-HGNC_29046-OMIM_619777-HP_0000006-GENCC_100001"	"HGNC:29046"	"FBXO28"	"MONDO:0030695"	"developmental and epileptic encephalopathy 100"	"OMIM:619777"	"Developmental and epileptic encephalopathy 100"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29046"	"FBXO28"	"OMIM:619777"	"FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-01-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4642"	""	"30160831;37543484;33280099"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204642"	"2025-01-17"
"GENCC_000112-HGNC_16712-OMIM_620012-HP_0000006-GENCC_100003"	"HGNC:16712"	"FBXW7"	"MONDO:0859280"	"developmental delay, hypotonia, and impaired language"	"OMIM:620012"	"Developmental delay, hypotonia, and impaired language"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16712"	"FBXW7"	"OMIM:620012"	"FBXW7-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4405"	""	"33057194;35395208"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204405"	"2025-01-17"
"GENCC_000112-HGNC_3629-OMIM_618156-HP_0000007-GENCC_100004"	"HGNC:3629"	"FDFT1"	"MONDO:0032566"	"squalene synthase deficiency"	"OMIM:618156"	"Squalene synthase deficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3629"	"FDFT1"	"OMIM:618156"	"FDFT1-related defect in cholesterol biosynthesis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4030"	""	"29909962"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204030"	"2025-01-17"
"GENCC_000112-HGNC_3629-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:3629"	"FDFT1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3629"	"FDFT1"	"MONDO:0019200"	"FDFT1-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3676"	""	"29320387"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203676"	"2025-01-17"
"GENCC_000112-HGNC_3631-OMIM_616631-HP_0000006-GENCC_100003"	"HGNC:3631"	"FDPS"	"MONDO:0014713"	"porokeratosis 9, multiple types"	"OMIM:616631"	"Porokeratosis 9, multiple types"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3631"	"FDPS"	"OMIM:616631"	"FDPS-related Porokeratosis 9, multiple types"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5254"	""	"28777842"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205254"	"2025-01-17"
"GENCC_000112-HGNC_3642-OMIM_620887-HP_0000007-GENCC_100002"	"HGNC:3642"	"FDXR"	"MONDO:0971174"	"multiple mitochondrial dysfunctions syndrome 9b"	"OMIM:620887"	"Multiple mitochondrial dysfunctions syndrome 9B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3642"	"FDXR"	"OMIM:620887"	"FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2024-02-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5126"	""	"32499495;33938912;28965846;30250212"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205126"	"2025-01-17"
"GENCC_000112-HGNC_3666-OMIM_620193-HP_0000006-GENCC_100001"	"HGNC:3666"	"FGF10"	"MONDO:0859578"	"lacrimoauriculodentodigital syndrome 3"	"OMIM:620193"	"LADD syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3666"	"FGF10"	"OMIM:620193"	"FGF10-related lacrimo-auriculo-dento-digital (LADD) syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1081"	""	"16501574;16630169"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201081"	"2025-01-17"
"GENCC_000112-HGNC_3668-MONDO_0014949-HP_0000006-GENCC_100001"	"HGNC:3668"	"FGF12"	"MONDO:0014949"	"developmental and epileptic encephalopathy, 47"	"MONDO:0014949"	"developmental and epileptic encephalopathy, 47"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3668"	"FGF12"	"MONDO:0014949"	"FGF12-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-02-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2365"	""	"27830185;27872899;27164707"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202365"	"2025-01-17"
"GENCC_000112-HGNC_3670-MONDO_0859086-HP_0001417-GENCC_100004"	"HGNC:3670"	"FGF13"	"MONDO:0859086"	"intellectual developmental disorder, X-linked 110"	"MONDO:0859086"	"intellectual developmental disorder, X-linked 110"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:3670"	"FGF13"	"MONDO:0859086"	"FGF13-related neurodevelopmental disorder (X-linked dominant)"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-01-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4670"	""	"37536293;34871784;33245860"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204670"	"2025-01-17"
"GENCC_000112-HGNC_3705-OMIM_617107-HP_0000007-GENCC_100003"	"HGNC:3705"	"FIBP"	"MONDO:0014918"	"tall stature-intellectual disability-renal anomalies syndrome"	"OMIM:617107"	"Thauvin-Robinet-Faivre syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3705"	"FIBP"	"OMIM:617107"	"FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-03-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5132"	""	"37876348;26660953;38102793;36919607;37218527;27183861"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205132"	"2025-01-17"
"GENCC_000112-HGNC_21015-OMIM_620775-HP_0000007-GENCC_100003"	"HGNC:21015"	"FILIP1"	"MONDO:0958332"	"neuromuscular disorder, congenital, with dysmorphic facies"	"OMIM:620775"	"Neuromuscular disorder, congenital, with dysmorphic facies"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21015"	"FILIP1"	"OMIM:620775"	"FILIP1-related arthrogryposis multiplex congenita with microcephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-02-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5127"	""	"36943452"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205127"	"2025-01-17"
"GENCC_000112-HGNC_18169-MONDO_0017195-HP_0000007-GENCC_100001"	"HGNC:18169"	"FKBP10"	"MONDO:0017195"	"Bruck syndrome"	"MONDO:0017195"	"Bruck syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18169"	"FKBP10"	"MONDO:0017195"	"FKBP10-related BRUCK SYNDROME TYPE 1"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-07-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4908"	""	"21567934;20362275;35278031;20839288"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204908"	"2025-01-17"
"GENCC_000112-HGNC_24671-OMIM_255100-HP_0000007-GENCC_100001"	"HGNC:24671"	"FLAD1"	"MONDO:0009703"	"myopathy with abnormal lipid metabolism"	"OMIM:255100"	"Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24671"	"FLAD1"	"OMIM:255100"	"FLAD1-related Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency."	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2124"	""	"27259049"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202124"	"2025-01-17"
"GENCC_000112-HGNC_33276-OMIM_618084-HP_0000007-GENCC_100002"	"HGNC:33276"	"FLG2"	"MONDO:0054852"	"peeling skin syndrome 6"	"OMIM:618084"	"Peeling skin syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:33276"	"FLG2"	"OMIM:618084"	"FLG2-related Peeling skin syndrome 6"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5271"	""	"28884927"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205271"	"2025-01-17"
"GENCC_000112-HGNC_3754-MONDO_0100062-HP_0001417-GENCC_100001"	"HGNC:3754"	"FLNA"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:3754"	"FLNA"	"MONDO:0100062"	"FLNA-related EPILEPTIC ENCEPHALOPATHY"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=75"	""	"23934111"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200075"	"2025-01-17"
"GENCC_000112-HGNC_3767-OMIM_618780-HP_0000006-GENCC_100002"	"HGNC:3767"	"FLT4"	"MONDO:0032913"	"congenital heart defects, multiple types, 7"	"OMIM:618780"	"Congenital heart defects, multiple types, 7"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3767"	"FLT4"	"OMIM:618780"	"FLT4-related congenital heart disease"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2023-04-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5034"	""	"33067626"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205034"	"2025-01-17"
"GENCC_000112-HGNC_3798-OMIM_620789-HP_0000006-GENCC_100003"	"HGNC:3798"	"FOSL2"	"MONDO:0968978"	"aplasia cutis-enamel dysplasia syndrome"	"OMIM:620789"	"Aplasia cutis-enamel dysplasia syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3798"	"FOSL2"	"OMIM:620789"	"FOSL2-related neurodevelopmental disorder with scalp and enamel defects"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-11-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5083"	""	"36197437"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205083"	"2025-01-17"
"GENCC_000112-HGNC_3804-MONDO_0019503-HP_0000006-GENCC_100004"	"HGNC:3804"	"FOXD3"	"MONDO:0019503"	"anterior segment dysgenesis"	"MONDO:0019503"	"anterior segment dysgenesis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3804"	"FOXD3"	"MONDO:0019503"	"FOXD3-related Anterior Segment Dysgenesis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2813"	""	"22815627"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202813"	"2025-01-17"
"GENCC_000112-HGNC_3808-MONDO_0005129-HP_0000007-GENCC_100001"	"HGNC:3808"	"FOXE3"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3808"	"FOXE3"	"MONDO:0005129"	"FOXE3-related Congenital cataract"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-01-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3683"	""	"17893665;28418495;29136273;27218149;20806047"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203683"	"2025-01-17"
"GENCC_000112-HGNC_3808-MONDO_0005129-HP_0000006-GENCC_100001"	"HGNC:3808"	"FOXE3"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3808"	"FOXE3"	"MONDO:0005129"	"FOXE3-related Congenital cataract (monoallelic, uncertain)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-01-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4649"	""	"17893665;28418495;29136273;27218149;20806047"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204649"	"2025-01-17"
"GENCC_000112-HGNC_35123-OMIM_620444-HP_0000006-GENCC_100004"	"HGNC:35123"	"FOXI3"	"MONDO:0958194"	"craniofacial microsomia 2"	"OMIM:620444"	"Craniofacial microsomia 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:35123"	"FOXI3"	"OMIM:620444"	"FOXI3-related microtia and craniofacial microsomia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-12-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4991"	""	"36260083"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204991"	"2025-01-17"
"GENCC_000112-HGNC_3816-OMIM_618699-HP_0000006-GENCC_100002"	"HGNC:3816"	"FOXJ1"	"MONDO:0032874"	"ciliary dyskinesia, primary, 43"	"OMIM:618699"	"Ciliary dyskinesia, primary, 43"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3816"	"FOXJ1"	"OMIM:618699"	"FOXJ1-related motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4360"	""	"31630787"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204360"	"2025-01-17"
"GENCC_000112-HGNC_20842-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:20842"	"FOXP4"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20842"	"FOXP4"	"MONDO:0700092"	"FOXP4-related Developmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4621"	""	"36301021;33110267"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204621"	"2025-01-17"
"GENCC_000112-HGNC_26927-OMIM_618241-HP_0000007-GENCC_100001"	"HGNC:26927"	"FOXRED1"	"MONDO:0032624"	"mitochondrial complex 1 deficiency, nuclear type 19"	"OMIM:618241"	"Mitochondrial complex I deficiency, nuclear type 19"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26927"	"FOXRED1"	"OMIM:618241"	"FOXRED1-related mitochondrial complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1979"	""	"20858599;17262856;10080174;23553477;20382551;22499348;12616398;11349233;15159508;11181577;21203893;9837812;10330338;19185523;16200211;10944442;15824269;20818383;9463323"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201979"	"2025-01-17"
"GENCC_000112-HGNC_1162-MONDO_0859312-HP_0000007-GENCC_100002"	"HGNC:1162"	"FRA10AC1"	"MONDO:0859312"	"neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities"	"MONDO:0859312"	"neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1162"	"FRA10AC1"	"MONDO:0859312"	"FRA10AC1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-10-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4920"	""	"34694367;35821753;35871492"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204920"	"2025-01-17"
"GENCC_000112-HGNC_28214-OMIM_620094-HP_0000006-GENCC_100003"	"HGNC:28214"	"FRMD5"	"MONDO:0859305"	"neurodevelopmental disorder with eye movement abnormalities and ataxia"	"OMIM:620094"	"Neurodevelopmental disorder with eye movement abnormalities and ataxia"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:28214"	"FRMD5"	"OMIM:620094"	"FRMD5-related developmental disorder "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-02-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5002"	""	"36206744"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205002"	"2025-01-17"
"GENCC_000112-HGNC_29007-MONDO_0010509-HP_0001417-GENCC_100002"	"HGNC:29007"	"FRMPD4"	"MONDO:0010509"	"intellectual disability, X-linked 104"	"MONDO:0010509"	"intellectual disability, X-linked 104"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:29007"	"FRMPD4"	"MONDO:0010509"	"FRMPD4-related intellectual disability"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2571"	""	"25644381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202571"	"2025-01-17"
"GENCC_000112-HGNC_1362-OMIM_616981-HP_0000007-GENCC_100002"	"HGNC:1362"	"FRRS1L"	"MONDO:0014859"	"developmental and epileptic encephalopathy, 37"	"OMIM:616981"	"Developmental and epileptic encephalopathy 37"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1362"	"FRRS1L"	"OMIM:616981"	"FRRS1L-related Epileptic encephalopathy with continuous spike-and-wave during sleep"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2129"	""	"27236917;27239025"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202129"	"2025-01-17"
"GENCC_000112-HGNC_4019-OMIM_618005-HP_0000007-GENCC_100002"	"HGNC:4019"	"FUT8"	"MONDO:0020775"	"congenital disorder of glycosylation with defective fucosylation 1"	"OMIM:618005"	"Congenital disorder of glycosylation with defective fucosylation 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4019"	"FUT8"	"OMIM:618005"	"FUT8-related congenital disorder of glycosylation with defective fucosylation"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4008"	""	"29304374"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204008"	"2025-01-17"
"GENCC_000112-HGNC_4023-MONDO_0019952-HP_0000007-GENCC_100002"	"HGNC:4023"	"FXR1"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4023"	"FXR1"	"MONDO:0019952"	"FXR1-related congenital myopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2023-04-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5028"	""	"30770808;35393337"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205028"	"2025-01-17"
"GENCC_000112-HGNC_4043-OMIM_620731-HP_0000006-GENCC_100002"	"HGNC:4043"	"FZD5"	"MONDO:0958239"	"microphthalmia/coloboma 11"	"OMIM:620731"	"Microphthalmia/coloboma 11"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4043"	"FZD5"	"OMIM:620731"	"FZD5-related coloboma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2133"	""	"26908622"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202133"	"2025-01-17"
"GENCC_000112-HGNC_4070-MONDO_0957779-HP_0000006-GENCC_100003"	"HGNC:4070"	"GABBR1"	"MONDO:0957779"	"neurodevelopmental disorder with language delay and variable cognitive abnormalities"	"MONDO:0957779"	"neurodevelopmental disorder with language delay and variable cognitive abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4070"	"GABBR1"	"MONDO:0957779"	"GABBR1-associated neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4932"	""	"36103875"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204932"	"2025-01-17"
"GENCC_000112-HGNC_4507-OMIM_617904-HP_0000006-GENCC_100002"	"HGNC:4507"	"GABBR2"	"MONDO:0033368"	"developmental and epileptic encephalopathy, 59"	"OMIM:617904"	"Developmental and epileptic encephalopathy 59"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4507"	"GABBR2"	"OMIM:617904"	"GABBR2-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1407"	""	"29369404;29100083;26740508;25262651;28856709"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201407"	"2025-01-17"
"GENCC_000112-HGNC_4075-OMIM_615744-HP_0000006-GENCC_100002"	"HGNC:4075"	"GABRA1"	"MONDO:0014328"	"developmental and epileptic encephalopathy, 19"	"OMIM:615744"	"Developmental and epileptic encephalopathy 19"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4075"	"GABRA1"	"OMIM:615744"	"GABRA1-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1776"	""	"23934111"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201776"	"2025-01-17"
"GENCC_000112-HGNC_4076-OMIM_618557-HP_0000006-GENCC_100002"	"HGNC:4076"	"GABRA2"	"MONDO:0032812"	"developmental and epileptic encephalopathy, 78"	"OMIM:618557"	"Developmental and epileptic encephalopathy 78"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4076"	"GABRA2"	"OMIM:618557"	"GABRA2-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2023-08-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5068"	""	"29422393;29961870;31032849"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205068"	"2025-01-17"
"GENCC_000112-HGNC_4082-MONDO_0030922-HP_0000006-GENCC_100002"	"HGNC:4082"	"GABRB2"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4082"	"GABRB2"	"MONDO:0030922"	"GABRB2-related Epilepsy and intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3661"	""	"29100083"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203661"	"2025-01-17"
"GENCC_000112-HGNC_4086-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:4086"	"GABRG1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4086"	"GABRG1"	"MONDO:0100062"	"GABRG1-associated epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4935"	""	"36121006"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204935"	"2025-01-17"
"GENCC_000112-HGNC_4137-MONDO_0009749-HP_0000007-GENCC_100001"	"HGNC:4137"	"GAN"	"MONDO:0009749"	"giant axonal neuropathy 1"	"MONDO:0009749"	"giant axonal neuropathy 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4137"	"GAN"	"MONDO:0009749"	"GAN-related Giant axonal neuropathy 1"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-06-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3863"	""	"30246730;29876741;19231187;30532362;11062483;20949505"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203863"	"2025-01-17"
"GENCC_000112-HGNC_24846-OMIM_618449-HP_0000007-GENCC_100002"	"HGNC:24846"	"GAS2L2"	"MONDO:0032757"	"ciliary dyskinesia, primary, 41"	"OMIM:618449"	"?Ciliary dyskinesia, primary, 41"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24846"	"GAS2L2"	"OMIM:618449"	"GAS2L2-related impaired cilia orientation and mucociliary clearance"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4067"	""	"30665704"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204067"	"2025-01-17"
"GENCC_000112-HGNC_4166-MONDO_0016575-HP_0000007-GENCC_100001"	"HGNC:4166"	"GAS8"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4166"	"GAS8"	"MONDO:0016575"	"GAS8-related PRIMARY CILIARY DYSKINESIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-01-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2062"	""	"26387594"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202062"	"2025-01-17"
"GENCC_000112-HGNC_30778-OMIM_615074-HP_0000006-GENCC_100001"	"HGNC:30778"	"GATAD2B"	"MONDO:0014034"	"severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"	"OMIM:615074"	"GAND syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:30778"	"GATAD2B"	"OMIM:615074"	"GATAD2B-related nonspecific severe intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1075"	""	"23644463;30346093;28077840;31205050;34470925;31949314;30482549;32688057"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201075"	"2025-01-17"
"GENCC_000112-HGNC_18986-OMIM_614409-HP_0000007-GENCC_100001"	"HGNC:18986"	"GBA2"	"MONDO:0013737"	"hereditary spastic paraplegia 46"	"OMIM:614409"	"Spastic paraplegia 46, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18986"	"GBA2"	"OMIM:614409"	"GBA2-related cerebellar ataxia with spasticity"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1449"	""	"23332917"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201449"	"2025-01-17"
"GENCC_000112-HGNC_4217-OMIM_615506-HP_0000006-GENCC_100004"	"HGNC:4217"	"GDF2"	"MONDO:0014217"	"telangiectasia, hereditary hemorrhagic, type 5"	"OMIM:615506"	"Telangiectasia, hereditary hemorrhagic, type 5"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4217"	"GDF2"	"OMIM:615506"	"GDF2-related Telangiectasia, hereditary haemorrhagic, type 5"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5240"	""	"34611981"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205240"	"2025-01-17"
"GENCC_000112-HGNC_4221-MONDO_0021129-HP_0000006-GENCC_100001"	"HGNC:4221"	"GDF6"	"MONDO:0021129"	"microphthalmia"	"MONDO:0021129"	"microphthalmia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4221"	"GDF6"	"MONDO:0021129"	"GDF6-related Microphthalmia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2830"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202830"	"2025-01-17"
"GENCC_000112-HGNC_4247-OMIM_610842-HP_0000007-GENCC_100001"	"HGNC:4247"	"GGCX"	"MONDO:0012570"	"body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"	"OMIM:610842"	"Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4247"	"GGCX"	"OMIM:610842"	"GGCX-related pseudoxanthoma elasticum-like skin manifestations with eye anomalies"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2834"	""	"28125048;24739904"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202834"	"2025-01-17"
"GENCC_000112-HGNC_4274-OMIM_164200-HP_0000007-GENCC_100001"	"HGNC:4274"	"GJA1"	"MONDO:0008111"	"oculodentodigital dysplasia"	"OMIM:164200"	"Oculodentodigital dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4274"	"GJA1"	"OMIM:164200"	"GJA1-related oculodentodigital dysplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1857"	""	"15512999;16816024;14974090;20597923;12457340;36396593;23606748;29902798"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201857"	"2025-01-17"
"GENCC_000112-HGNC_4285-MONDO_0009076-HP_0000007-GENCC_100003"	"HGNC:4285"	"GJB3"	"MONDO:0009076"	"autosomal recessive nonsyndromic hearing loss 1A"	"MONDO:0009076"	"autosomal recessive nonsyndromic hearing loss 1A"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4285"	"GJB3"	"MONDO:0009076"	"GJB3-related DEAFNESS, AUTOSOMAL RECESSIVE"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1232"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201232"	"2025-01-17"
"GENCC_000112-HGNC_29514-OMIM_617194-HP_0000007-GENCC_100002"	"HGNC:29514"	"GLDN"	"MONDO:0014965"	"lethal congenital contracture syndrome 11"	"OMIM:617194"	"Lethal congenital contracture syndrome 11"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29514"	"GLDN"	"OMIM:617194"	"GLDN-related lethal arthroogryposis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2369"	""	"27616481"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202369"	"2025-01-17"
"GENCC_000112-HGNC_17493-OMIM_616835-HP_0000006-GENCC_100002"	"HGNC:17493"	"GMNN"	"MONDO:0014794"	"Meier-Gorlin syndrome 6"	"OMIM:616835"	"Meier-Gorlin syndrome 6"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17493"	"GMNN"	"OMIM:616835"	"GMNN-related primordial dwarfism associated with Meier-Gorlin syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-01-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2037"	""	"26637980"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202037"	"2025-01-17"
"GENCC_000112-HGNC_4379-MONDO_0018715-HP_0000006-GENCC_100002"	"HGNC:4379"	"GNA11"	"MONDO:0018715"	"congenital hemangioma"	"MONDO:0018715"	"congenital hemangioma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4379"	"GNA11"	"MONDO:0018715"	"GNA11-related Congenital Hemangioma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2116"	""	"27058448"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202116"	"2025-01-17"
"GENCC_000112-HGNC_4384-OMIM_619854-HP_0000006-GENCC_100003"	"HGNC:4384"	"GNAI1"	"MONDO:0859243"	"neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	"OMIM:619854"	"Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4384"	"GNAI1"	"OMIM:619854"	"GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2016-01-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2086"	""	"34819662;33473207"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202086"	"2025-01-17"
"GENCC_000112-HGNC_4389-OMIM_615473-HP_0000006-GENCC_100001"	"HGNC:4389"	"GNAO1"	"MONDO:0014199"	"developmental and epileptic encephalopathy, 17"	"OMIM:615473"	"Developmental and epileptic encephalopathy 17"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4389"	"GNAO1"	"OMIM:615473"	"GNAO1-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=663"	""	"23993195"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200663"	"2025-01-17"
"GENCC_000112-HGNC_4390-MONDO_0018715-HP_0000006-GENCC_100002"	"HGNC:4390"	"GNAQ"	"MONDO:0018715"	"congenital hemangioma"	"MONDO:0018715"	"congenital hemangioma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4390"	"GNAQ"	"MONDO:0018715"	"GNAQ-related Congenital Hemangioma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2115"	""	"27058448"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202115"	"2025-01-17"
"GENCC_000112-HGNC_4392-OMIM_612462-HP_0000006-GENCC_100001"	"HGNC:4392"	"GNAS"	"MONDO:0012911"	"pseudohypoparathyroidism type 1C"	"OMIM:612462"	"Pseudohypoparathyroidism Ic"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4392"	"GNAS"	"OMIM:612462"	"GNAS-related Pseudohypoparathyroidism Ic"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2845"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202845"	"2025-01-17"
"GENCC_000112-HGNC_4392-MONDO_0008153-HP_0000006-GENCC_100001"	"HGNC:4392"	"GNAS"	"MONDO:0008153"	"progressive osseous heteroplasia"	"MONDO:0008153"	"progressive osseous heteroplasia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4392"	"GNAS"	"MONDO:0008153"	"GNAS-related OSSEOUS HETEROPLASIA, PROGRESSIVE"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4164"	""	"11784876"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204164"	"2025-01-17"
"GENCC_000112-HGNC_4393-MONDO_0004580-HP_0000007-GENCC_100002"	"HGNC:4393"	"GNAT1"	"MONDO:0004580"	"retinal degeneration"	"MONDO:0004580"	"retinal degeneration"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4393"	"GNAT1"	"MONDO:0004580"	"GNAT1-related Rod-cone dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2846"	""	"27977773;26472407"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202846"	"2025-01-17"
"GENCC_000112-HGNC_4396-OMIM_616973-HP_0000006-GENCC_100001"	"HGNC:4396"	"GNB1"	"MONDO:0014855"	"intellectual disability, autosomal dominant 42"	"OMIM:616973"	"Intellectual developmental disorder, autosomal dominant 42"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4396"	"GNB1"	"OMIM:616973"	"GNB1-related Severe Neurodevelopmental Disability, Hypotonia, and Seizures"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121"	""	"27108799;30194818"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202121"	"2025-01-17"
"GENCC_000112-HGNC_4398-OMIM_619503-HP_0000006-GENCC_100001"	"HGNC:4398"	"GNB2"	"MONDO:0859185"	"neurodevelopmental disorder with hypotonia and dysmorphic facies"	"OMIM:619503"	"Neurodevelopmental disorder with hypotonia and dysmorphic facies"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4398"	"GNB2"	"OMIM:619503"	"GNB2-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4406"	""	"28219978;33057194;34183358;31698099"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204406"	"2025-01-17"
"GENCC_000112-HGNC_4401-OMIM_617173-HP_0000007-GENCC_100002"	"HGNC:4401"	"GNB5"	"MONDO:0014953"	"gnb5-related intellectual disability-cardiac arrhythmia syndrome"	"OMIM:617173"	"Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4401"	"GNB5"	"OMIM:617173"	"GNB5-related Sinus Bradycardia and Cognitive Disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2356"	""	"27523599"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202356"	"2025-01-17"
"GENCC_000112-HGNC_23657-MONDO_0019952-HP_0000007-GENCC_100004"	"HGNC:23657"	"GNE"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23657"	"GNE"	"MONDO:0019952"	"GNE-associated congenital myopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-02-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4822"	""	"35121750"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204822"	"2025-01-17"
"GENCC_000112-HGNC_4425-OMIM_620240-HP_0000007-GENCC_100002"	"HGNC:4425"	"GOLGA2"	"MONDO:0859375"	"developmental delay with hypotonia, myopathy, and brain abnormalities"	"OMIM:620240"	"Developmental delay with hypotonia, myopathy, and brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4425"	"GOLGA2"	"OMIM:620240"	"GOLGA2-related myopathy, seizures and microcephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-12-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4810"	""	"26742501;34424553"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204810"	"2025-01-17"
"GENCC_000112-HGNC_25973-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:25973"	"GON4L"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25973"	"GON4L"	"MONDO:0001071"	"GON4L-related AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=706"	""	"21937992"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200706"	"2025-01-17"
"GENCC_000112-HGNC_4433-OMIM_618721-HP_0000007-GENCC_100002"	"HGNC:4433"	"GOT2"	"MONDO:0032880"	"developmental and epileptic encephalopathy, 82"	"OMIM:618721"	"Developmental and epileptic encephalopathy 82"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4433"	"GOT2"	"OMIM:618721"	"GOT2-related Malate-Aspartate Shuttle-Related Encephalopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4281"	""	"31422819"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204281"	"2025-01-17"
"GENCC_000112-HGNC_25720-MONDO_0020366-HP_0000007-GENCC_100004"	"HGNC:25720"	"GPATCH3"	"MONDO:0020366"	"congenital glaucoma"	"MONDO:0020366"	"congenital glaucoma"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25720"	"GPATCH3"	"MONDO:0020366"	"GPATCH3-related Congenital glaucoma"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-10-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3634"	""	"28397860"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203634"	"2025-01-17"
"GENCC_000112-HGNC_4462-OMIM_617920-HP_0000007-GENCC_100001"	"HGNC:4462"	"GPNMB"	"MONDO:0054765"	"amyloidosis, primary localized cutaneous, 3"	"OMIM:617920"	"Amyloidosis, primary localized cutaneous, 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4462"	"GPNMB"	"OMIM:617920"	"GPNMB-related Amyloidosis, primary localised cutaneous, 3"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5272"	""	"34551863;29336782"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205272"	"2025-01-17"
"GENCC_000112-HGNC_20145-MONDO_0017304-HP_0001417-GENCC_100001"	"HGNC:20145"	"GPR143"	"MONDO:0017304"	"ocular albinism"	"MONDO:0017304"	"ocular albinism"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:20145"	"GPR143"	"MONDO:0017304"	"GPR143-related Ocular albinism"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-06-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2531"	""	"9529334;8634705;18523664;19390656;7647783"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202531"	"2025-01-17"
"GENCC_000112-HGNC_31371-MONDO_0013807-HP_0000007-GENCC_100001"	"HGNC:31371"	"GPR179"	"MONDO:0013807"	"congenital stationary night blindness 1E"	"MONDO:0013807"	"congenital stationary night blindness 1E"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:31371"	"GPR179"	"MONDO:0013807"	"GPR179-related Night blindness, congenital stationary (complete), 1E, autosomal recessive"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2855"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202855"	"2025-01-17"
"GENCC_000112-HGNC_4503-MONDO_0015993-HP_0000007-GENCC_100004"	"HGNC:4503"	"GPR45"	"MONDO:0015993"	"cone-rod dystrophy"	"MONDO:0015993"	"cone-rod dystrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4503"	"GPR45"	"MONDO:0015993"	"GPR45-related Cone-rod dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3680"	""	"29320387"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203680"	"2025-01-17"
"GENCC_000112-HGNC_2001-MONDO_0011023-HP_0000006-GENCC_100001"	"HGNC:2001"	"GREM1"	"MONDO:0011023"	"hereditary mixed polyposis syndrome"	"MONDO:0011023"	"hereditary mixed polyposis syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2001"	"GREM1"	"MONDO:0011023"	"GREM1-related HEREDITARY MIXED POLYPOSIS"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2301"	""	"22561515"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202301"	"2025-01-17"
"GENCC_000112-HGNC_2799-MONDO_0020364-HP_0000006-GENCC_100002"	"HGNC:2799"	"GRHL2"	"MONDO:0020364"	"posterior polymorphous corneal dystrophy"	"MONDO:0020364"	"posterior polymorphous corneal dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:2799"	"GRHL2"	"MONDO:0020364"	"GRHL2-related Posterior Polymorphous Corneal Dystrophy 4"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-05-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3758"	""	"29499165"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203758"	"2025-01-17"
"GENCC_000112-HGNC_4571-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:4571"	"GRIA1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4571"	"GRIA1"	"MONDO:0700092"	"GRIA1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2021-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4716"	""	"35675825;23033978"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204716"	"2025-01-17"
"GENCC_000112-HGNC_4576-MONDO_0014530-HP_0000007-GENCC_100002"	"HGNC:4576"	"GRID2"	"MONDO:0014530"	"autosomal recessive spinocerebellar ataxia 18"	"MONDO:0014530"	"autosomal recessive spinocerebellar ataxia 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4576"	"GRID2"	"MONDO:0014530"	"GRID2-related cerebellar ataxia, biallelic"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-12-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4446"	""	"31183084;24078737;28856174;23611888"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204446"	"2025-01-17"
"GENCC_000112-HGNC_4576-MONDO_0000437-HP_0000006-GENCC_100002"	"HGNC:4576"	"GRID2"	"MONDO:0000437"	"cerebellar ataxia"	"MONDO:0000437"	"cerebellar ataxia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4576"	"GRID2"	"MONDO:0000437"	"GRID2-related cerebellar ataxia, monoallelic"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-12-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4447"	""	"25841024"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204447"	"2025-01-17"
"GENCC_000112-HGNC_4580-OMIM_619580-HP_0000006-GENCC_100002"	"HGNC:4580"	"GRIK2"	"MONDO:0859201"	"neurodevelopmental disorder with impaired language and ataxia and with or without seizures"	"OMIM:619580"	"Neurodevelopmental disorder with impaired language and ataxia and with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4580"	"GRIK2"	"OMIM:619580"	"GRIK2-related intellectual disability and hypomyelination"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-09-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4774"	""	"34375587"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204774"	"2025-01-17"
"GENCC_000112-HGNC_4584-MONDO_0100062-HP_0000006-GENCC_100001"	"HGNC:4584"	"GRIN1"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4584"	"GRIN1"	"MONDO:0100062"	"GRIN1-related EPILEPTIC ENCEPHALOPATHY"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1357"	""	"34413877;29365063;29194067;23934111;34884460;33403508;34227748;33062288;31176596;30355546;35393335;28389307;28228639;26933583;25864721;27164704"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201357"	"2025-01-17"
"GENCC_000112-HGNC_4585-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:4585"	"GRIN2A"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4585"	"GRIN2A"	"MONDO:0700092"	"GRIN2A-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-04-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5026"	""	"35983985"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205026"	"2025-01-17"
"GENCC_000112-HGNC_4586-OMIM_616139-HP_0000006-GENCC_100001"	"HGNC:4586"	"GRIN2B"	"MONDO:0014505"	"developmental and epileptic encephalopathy, 27"	"OMIM:616139"	"Developmental and epileptic encephalopathy 27"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4586"	"GRIN2B"	"OMIM:616139"	"GRIN2B-related epileptic encelopathy "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=852"	""	"24272827;35393335;30151416;27605359;23934111;28377535;31085877"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200852"	"2025-01-17"
"GENCC_000112-HGNC_4588-OMIM_617162-HP_0000006-GENCC_100002"	"HGNC:4588"	"GRIN2D"	"MONDO:0014947"	"developmental and epileptic encephalopathy, 46"	"OMIM:617162"	"Developmental and epileptic encephalopathy 46"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4588"	"GRIN2D"	"OMIM:617162"	"GRIN2D-related Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2361"	""	"27616483"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202361"	"2025-01-17"
"GENCC_000112-HGNC_4599-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:4599"	"GRM7"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4599"	"GRM7"	"MONDO:0700092"	"GRM7-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-11-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4959"	""	"28097321;32286009;38070825;27435318"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204959"	"2025-01-17"
"GENCC_000112-HGNC_4622-MONDO_0001071-HP_0001417-GENCC_100002"	"HGNC:4622"	"GSPT2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:4622"	"GSPT2"	"MONDO:0001071"	"GSPT2-related intellectual disability"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1766"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201766"	"2025-01-17"
"GENCC_000112-HGNC_4651-OMIM_616943-HP_0000007-GENCC_100002"	"HGNC:4651"	"GTF2E2"	"MONDO:0014841"	"trichothiodystrophy 6, nonphotosensitive"	"OMIM:616943"	"Trichothiodystrophy 6, nonphotosensitive"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4651"	"GTF2E2"	"OMIM:616943"	"GTF2E2-related DNA repair-proficient trichothiodystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2111"	""	"26996949"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202111"	"2025-01-17"
"GENCC_000112-HGNC_4661-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:4661"	"GTF2IRD1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4661"	"GTF2IRD1"	"MONDO:0700092"	"GTF2IRD1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-04-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5030"	""	"36308390"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205030"	"2025-01-17"
"GENCC_000112-HGNC_4669-OMIM_620888-HP_0000007-GENCC_100003"	"HGNC:4669"	"GTPBP1"	"MONDO:0975745"	"neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1"	"OMIM:620888"	"Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4669"	"GTPBP1"	"OMIM:620888"	"GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features."	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-08-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5182"	""	"38118446"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205182"	"2025-01-17"
"GENCC_000112-HGNC_4678-MONDO_0800326-HP_0000006-GENCC_100001"	"HGNC:4678"	"GUCA1A"	"MONDO:0800326"	"cone-rod dystrophy 14"	"MONDO:0800326"	"cone-rod dystrophy 14"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4678"	"GUCA1A"	"MONDO:0800326"	"GUCA1A-related Cone-rod dystrophy 14"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2863"	""	"28442884"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202863"	"2025-01-17"
"GENCC_000112-HGNC_4678-MONDO_0020242-HP_0000006-GENCC_100002"	"HGNC:4678"	"GUCA1A"	"MONDO:0020242"	"hereditary macular dystrophy"	"MONDO:0020242"	"hereditary macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4678"	"GUCA1A"	"MONDO:0020242"	"GUCA1A-related Macular dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2864"	""	"28125083"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202864"	"2025-01-17"
"GENCC_000112-HGNC_4679-MONDO_0044314-HP_0000006-GENCC_100004"	"HGNC:4679"	"GUCA1B"	"MONDO:0044314"	"retinitis pigmentosa 78"	"MONDO:0044314"	"retinitis pigmentosa 78"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4679"	"GUCA1B"	"MONDO:0044314"	"GUCA1B-related Retinal dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2865"	""	"15452722;21405999"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202865"	"2025-01-17"
"GENCC_000112-HGNC_4689-MONDO_0015993-HP_0000006-GENCC_100001"	"HGNC:4689"	"GUCY2D"	"MONDO:0015993"	"cone-rod dystrophy"	"MONDO:0015993"	"cone-rod dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4689"	"GUCY2D"	"MONDO:0015993"	"GUCY2D-related Cone-rod dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-01-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3705"	""	"11709018;29061346"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203705"	"2025-01-17"
"GENCC_000112-HGNC_4689-MONDO_0008982-HP_0000007-GENCC_100004"	"HGNC:4689"	"GUCY2D"	"MONDO:0008982"	"central areolar choroidal dystrophy"	"MONDO:0008982"	"central areolar choroidal dystrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4689"	"GUCY2D"	"MONDO:0008982"	"GUCY2D-related Central areolar choroidal dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-01-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3706"	""	"22695961"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203706"	"2025-01-17"
"GENCC_000112-HGNC_4718-MONDO_0044323-HP_0000006-GENCC_100002"	"HGNC:4718"	"H1-4"	"MONDO:0044323"	"Rahman syndrome"	"MONDO:0044323"	"Rahman syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4718"	"H1-4"	"MONDO:0044323"	"H1-4-related Rahman syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2515"	""	"31400068;28475857"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202515"	"2025-01-17"
"GENCC_000112-HGNC_4764-OMIM_619720-HP_0000006-GENCC_100002"	"HGNC:4764"	"H3-3A"	"MONDO:0030606"	"Bryant-Li-Bhoj neurodevelopmental syndrome 1"	"OMIM:619720"	"Bryant-Li-Bhoj neurodevelopmental syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4764"	"H3-3A"	"OMIM:619720"	"H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3778"	""	"33057194;31942419;33268356"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203778"	"2025-01-17"
"GENCC_000112-HGNC_4765-OMIM_619721-HP_0000006-GENCC_100003"	"HGNC:4765"	"H3-3B"	"MONDO:0030607"	"Bryant-Li-Bhoj neurodevelopmental syndrome 2"	"OMIM:619721"	"Bryant-Li-Bhoj neurodevelopmental syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4765"	"H3-3B"	"OMIM:619721"	"H3-3B-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-05-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4891"	""	"33268356"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204891"	"2025-01-17"
"GENCC_000112-HGNC_4785-OMIM_619759-HP_0000006-GENCC_100003"	"HGNC:4785"	"H4C11"	"MONDO:0030730"	"Tessadori-van Haaften neurodevelopmental syndrome 2"	"OMIM:619759"	"?Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4785"	"H4C11"	"OMIM:619759"	"H4C11-related intellectual disability with facial dysmorphism"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2018-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3776"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203776"	"2025-01-17"
"GENCC_000112-HGNC_4787-OMIM_619758-HP_0000006-GENCC_100002"	"HGNC:4787"	"H4C3"	"MONDO:0030729"	"Tessadori-van Haaften neurodevelopmental syndrome 1"	"OMIM:619758"	"Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4787"	"H4C3"	"OMIM:619758"	"H4C3-related HIST1H4C"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2513"	""	"28920961"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202513"	"2025-01-17"
"GENCC_000112-HGNC_4796-MONDO_0060554-HP_0000007-GENCC_100003"	"HGNC:4796"	"HAAO"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"MONDO:0060554"	"vertebral, cardiac, renal, and limb defects syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4796"	"HAAO"	"MONDO:0060554"	"HAAO-related NAD deficiency disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4906"	""	"33942433;28792876"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204906"	"2025-01-17"
"GENCC_000112-HGNC_9639-MONDO_0019952-HP_0000007-GENCC_100001"	"HGNC:9639"	"HACD1"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9639"	"HACD1"	"MONDO:0019952"	"HACD1-related congenital myopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-03-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4692"	""	"36823680;33354762;23933735;32426512"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204692"	"2025-01-17"
"GENCC_000112-HGNC_21033-OMIM_616756-HP_0000007-GENCC_100001"	"HGNC:21033"	"HACE1"	"MONDO:0014764"	"spastic paraplegia-severe developmental delay-epilepsy syndrome"	"OMIM:616756"	"Spastic paraplegia and psychomotor retardation with or without seizures"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21033"	"HACE1"	"OMIM:616756"	"HACE1 related disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-11-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2024"	""	"26424145;26437029"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202024"	"2025-01-17"
"GENCC_000112-HGNC_18437-OMIM_618398-HP_0000007-GENCC_100001"	"HGNC:18437"	"HAVCR2"	"MONDO:0019475"	"subcutaneous panniculitis-like T-cell lymphoma"	"OMIM:618398"	"T-cell lymphoma, subcutaneous panniculitis-like"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18437"	"HAVCR2"	"OMIM:618398"	"HAVCR2-related T-cell lymphoma, subcutaneous panniculitis-like"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5276"	""	"30374066"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205276"	"2025-01-17"
"GENCC_000112-HGNC_4840-OMIM_620296-HP_0000006-GENCC_100004"	"HGNC:4840"	"HCK"	"MONDO:0957204"	"autoinflammation with pulmonary and cutaneous vasculitis"	"OMIM:620296"	"Autoinflammation with pulmonary and cutaneous vasculitis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4840"	"HCK"	"OMIM:620296"	"HCK-driven pulmonary and cutaneous vasculitis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5296"	""	"34536415"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205296"	"2025-01-17"
"GENCC_000112-HGNC_14063-MONDO_0001071-HP_0000006-GENCC_100002"	"HGNC:14063"	"HDAC4"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14063"	"HDAC4"	"MONDO:0001071"	"HDAC4-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-11-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4783"	""	"33537682"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204783"	"2025-01-17"
"GENCC_000112-HGNC_26611-OMIM_620250-HP_0000007-GENCC_100003"	"HGNC:26611"	"HECTD4"	"MONDO:0859516"	"neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26611"	"HECTD4"	"OMIM:620250"	"HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-12-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5091"	""	"36401616"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205091"	"2025-01-17"
"GENCC_000112-HGNC_29853-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:29853"	"HECW2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29853"	"HECW2"	"MONDO:0700092"	"HECW2-associated neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-12-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4984"	""	"35753050;35487419"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204984"	"2025-01-17"
"GENCC_000112-HGNC_4916-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:4916"	"HIRA"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4916"	"HIRA"	"MONDO:0700092"	"HIRA-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-01-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4668"	""	"33417013"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204668"	"2025-01-17"
"GENCC_000112-HGNC_4921-OMIM_616977-HP_0000006-GENCC_100001"	"HGNC:4921"	"HIVEP2"	"MONDO:0014858"	"intellectual disability, autosomal dominant 43"	"OMIM:616977"	"Intellectual developmental disorder, autosomal dominant 43"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4921"	"HIVEP2"	"OMIM:616977"	"HIVEP2 associated syndromic developmental delay with intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-01-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2342"	""	"27003583;26153216"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202342"	"2025-01-17"
"GENCC_000112-HGNC_4922-OMIM_617460-HP_0000006-GENCC_100004"	"HGNC:4922"	"HK1"	"MONDO:0044320"	"retinitis pigmentosa 79"	"OMIM:617460"	"Retinitis pigmentosa 79"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4922"	"HK1"	"OMIM:617460"	"HK1-related retinitis pigmentosa"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-05-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2529"	""	"26427411;25316723;25190649"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202529"	"2025-01-17"
"GENCC_000112-HGNC_23302-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:23302"	"HKDC1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23302"	"HKDC1"	"MONDO:0019200"	"HKDC1-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-09-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3944"	""	"30085091"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203944"	"2025-01-17"
"GENCC_000112-HGNC_4983-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:4983"	"HMGB1"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:4983"	"HMGB1"	"MONDO:0001071"	"HMGB1-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-12-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4796"	""	"34164801"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204796"	"2025-01-17"
"GENCC_000112-HGNC_5004-OMIM_300915-HP_0001417-GENCC_100004"	"HGNC:5004"	"HMGB3"	"MONDO:0010485"	"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"	"OMIM:300915"	"?Microphthalmia, syndromic 13"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:5004"	"HMGB3"	"OMIM:300915"	"HMGB3-related Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-01-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2344"	""	"24993872"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202344"	"2025-01-17"
"GENCC_000112-HGNC_5006-OMIM_620375-HP_0000007-GENCC_100003"	"HGNC:5006"	"HMGCR"	"MONDO:0957270"	"muscular dystrophy, limb-girdle, autosomal recessive 28"	"OMIM:620375"	"Muscular dystrophy, limb-girdle, autosomal recessive 28"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5006"	"HMGCR"	"OMIM:620375"	"HMGCR-related limb-girdle muscular dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-04-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5152"	""	"36745799;37167966"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205152"	"2025-01-17"
"GENCC_000112-HGNC_5033-OMIM_620460-HP_0000006-GENCC_100002"	"HGNC:5033"	"HNRNPA2B1"	"MONDO:0958195"	"oculopharyngeal muscular dystrophy 2"	"OMIM:620460"	"Oculopharyngeal muscular dystrophy 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5033"	"HNRNPA2B1"	"OMIM:620460"	"HNRNPA2B1-related Early-onset oculopharyngeal muscular dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4903"	""	"35484142"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204903"	"2025-01-17"
"GENCC_000112-HGNC_5041-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:5041"	"HNRNPH1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5041"	"HNRNPH1"	"MONDO:0700092"	"HNRNPH1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-06-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4509"	""	"32335897;29938792"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204509"	"2025-01-17"
"GENCC_000112-HGNC_5042-OMIM_300986-HP_0001417-GENCC_100002"	"HGNC:5042"	"HNRNPH2"	"MONDO:0010512"	"intellectual disability, X-linked, syndromic, Bain type"	"OMIM:300986"	"Intellectual developmental disorder, X-linked syndromic, Bain type"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:5042"	"HNRNPH2"	"OMIM:300986"	"HNRNPH2-related Neurodevelopmental Disorder in Females"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2358"	""	"27545675"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202358"	"2025-01-17"
"GENCC_000112-HGNC_5047-OMIM_620073-HP_0000006-GENCC_100001"	"HGNC:5047"	"HNRNPR"	"MONDO:0859297"	"neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"	"OMIM:620073"	"Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5047"	"HNRNPR"	"OMIM:620073"	"HNRNPR-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4260"	""	"31079900"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204260"	"2025-01-17"
"GENCC_000112-HGNC_5048-OMIM_617391-HP_0000006-GENCC_100001"	"HGNC:5048"	"HNRNPU"	"MONDO:0033363"	"developmental and epileptic encephalopathy, 54"	"OMIM:617391"	"Developmental and epileptic encephalopathy 54"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5048"	"HNRNPU"	"OMIM:617391"	"HNRNPU-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1683"	""	"37407733;28815871;28393272;32319732;28944577;38171565;23934111;33914968;35138025;34012379;37120726;29858110"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201683"	"2025-01-17"
"GENCC_000112-HGNC_5101-MONDO_0024558-HP_0000006-GENCC_100004"	"HGNC:5101"	"HOXA11"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:5101"	"HOXA11"	"MONDO:0024558"	"HOXA11-related Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2016-01-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2033"	""	"26581901"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202033"	"2025-01-17"
"GENCC_000112-HGNC_28242-OMIM_619026-HP_0000007-GENCC_100002"	"HGNC:28242"	"HPDL"	"MONDO:0033613"	"neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"OMIM:619026"	"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28242"	"HPDL"	"OMIM:619026"	"HPDL-related neurodegenerative disease"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-09-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4593"	""	"32707086"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204593"	"2025-01-17"
"GENCC_000112-HGNC_55085-OMIM_146550-HP_0000006-GENCC_100003"	"HGNC:55085"	"HRURF"	"MONDO:0100522"	"hypotrichosis 4"	"OMIM:146550"	"Hypotrichosis 4"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:55085"	"HRURF"	"OMIM:146550"	"HRURF-related Marie Unna hereditary hypotrichosis type 4"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5302"	""	"19122663;20659777"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205302"	"2025-01-17"
"GENCC_000112-HGNC_5351-OMIM_607594-HP_0000007-GENCC_100003"	"HGNC:5351"	"ICOS"	"MONDO:0011864"	"immunodeficiency, common variable, 1"	"OMIM:607594"	"Immunodeficiency, common variable, 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5351"	"ICOS"	"OMIM:607594"	"ICOS-related Combined immunodeficiency with recurrent sinopulmonary infections and recalcitrant warts"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5295"	""	"35276224"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205295"	"2025-01-17"
"GENCC_000112-HGNC_5384-MONDO_0019200-HP_0000007-GENCC_100002"	"HGNC:5384"	"IDH3A"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5384"	"IDH3A"	"MONDO:0019200"	"IDH3A-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2881"	""	"28412069;30058936"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202881"	"2025-01-17"
"GENCC_000112-HGNC_5967-MONDO_0015338-HP_0000007-GENCC_100001"	"HGNC:5967"	"IL11RA"	"MONDO:0015338"	"syndromic craniosynostosis"	"MONDO:0015338"	"syndromic craniosynostosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:5967"	"IL11RA"	"MONDO:0015338"	"IL11RA-related Autosomal Recessive Craniosynostosis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2167"	""	"24498618"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202167"	"2025-01-17"
"GENCC_000112-HGNC_15561-OMIM_614204-HP_0000007-GENCC_100004"	"HGNC:15561"	"IL36RN"	"MONDO:0013626"	"psoriasis 14, pustular"	"OMIM:614204"	"Psoriasis 14, pustular"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15561"	"IL36RN"	"OMIM:614204"	"IL36RN-related Psoriasis 14, pustular"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5229"	""	"30036598;22903787;21839423;26589685"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205229"	"2025-01-17"
"GENCC_000112-HGNC_6018-OMIM_148000-HP_0000006-GENCC_100001"	"HGNC:6018"	"IL6"	"MONDO:0007845"	"Kaposi sarcoma, susceptibility to"	"OMIM:148000"	"{Kaposi sarcoma, susceptibility to}"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6018"	"IL6"	"OMIM:148000"	"IL6-related Kaposi sarcoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4106"	""	"11001912"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204106"	"2025-01-17"
"GENCC_000112-HGNC_6023-OMIM_618309-HP_0000007-GENCC_100004"	"HGNC:6023"	"IL7"	"MONDO:0032667"	"epidermodysplasia verruciformis, susceptibility to, 5"	"OMIM:618309"	"Immunodeficiency 130 with HPV-related verrucosis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6023"	"IL7"	"OMIM:618309"	"IL7-related Epidermodysplasia verruciformis, susceptibility to, 5"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5251"	""	"25981006"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205251"	"2025-01-17"
"GENCC_000112-HGNC_6091-Orphanet_508-HP_0000007-GENCC_100001"	"HGNC:6091"	"INSR"	"MONDO:0009517"	"Donohue syndrome"	"Orphanet:508"	"Orphanet:508"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6091"	"INSR"	"Orphanet:508"	"INSR-related Leprechaunism"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4110"	""	"7815442;8105179"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204110"	"2025-01-17"
"GENCC_000112-HGNC_24555-OMIM_618571-HP_0000007-GENCC_100002"	"HGNC:24555"	"INTS1"	"MONDO:0032817"	"neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"	"OMIM:618571"	"Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24555"	"INTS1"	"OMIM:618571"	"INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2024-04-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5149"	""	"28542170;31428919;30622326"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205149"	"2025-01-17"
"GENCC_000112-HGNC_26052-OMIM_620428-HP_0000007-GENCC_100003"	"HGNC:26052"	"INTS11"	"MONDO:0957386"	"neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities"	"OMIM:620428"	"Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26052"	"INTS11"	"OMIM:620428"	"INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-07-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5174"	""	"37980560;37054711"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205174"	"2025-01-17"
"GENCC_000112-HGNC_9853-OMIM_619472-HP_0000007-GENCC_100001"	"HGNC:9853"	"IPO8"	"MONDO:0859177"	"VISS syndrome"	"OMIM:619472"	"VISS syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9853"	"IPO8"	"OMIM:619472"	"IPO8-related syndromic thoracic aortic aneurysm"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4736"	""	"34010605;34010604"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204736"	"2025-01-17"
"GENCC_000112-HGNC_29112-MONDO_0032870-HP_0000007-GENCC_100002"	"HGNC:29112"	"IQSEC1"	"MONDO:0032870"	"intellectual developmental disorder with short stature and behavioral abnormalities"	"MONDO:0032870"	"intellectual developmental disorder with short stature and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29112"	"IQSEC1"	"MONDO:0032870"	"IQSEC1-related Intellectual Disability, Developmental Delay, and Short Stature"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4359"	""	"31607425"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204359"	"2025-01-17"
"GENCC_000112-HGNC_6115-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:6115"	"IREB2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6115"	"IREB2"	"MONDO:0700092"	"IREB2-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-11-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4968"	""	"30915432;35602653;31243445"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204968"	"2025-01-17"
"GENCC_000112-HGNC_14282-OMIM_618088-HP_0000006-GENCC_100002"	"HGNC:14282"	"IRF2BPL"	"MONDO:0060759"	"neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	"OMIM:618088"	"Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14282"	"IRF2BPL"	"OMIM:618088"	"IRF2BPL-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4038"	""	"30193138"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204038"	"2025-01-17"
"GENCC_000112-HGNC_6158-MONDO_0017610-HP_0000006-GENCC_100001"	"HGNC:6158"	"ITGB4"	"MONDO:0017610"	"epidermolysis bullosa simplex"	"MONDO:0017610"	"epidermolysis bullosa simplex"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6158"	"ITGB4"	"MONDO:0017610"	"ITGB4-related Epidermolysis Bullosa Simplex (Weber Cockayne)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4124"	""	"12485428"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204124"	"2025-01-17"
"GENCC_000112-HGNC_6158-MONDO_0006541-HP_0000007-GENCC_100002"	"HGNC:6158"	"ITGB4"	"MONDO:0006541"	"epidermolysis bullosa"	"MONDO:0006541"	"epidermolysis bullosa"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6158"	"ITGB4"	"MONDO:0006541"	"ITGB4-related Epidermolysis Bullosa Junctional"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4241"	""	"10792571;7545057"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204241"	"2025-01-17"
"GENCC_000112-HGNC_6171-MONDO_0016537-HP_0000007-GENCC_100001"	"HGNC:6171"	"ITK"	"MONDO:0016537"	"lymphoproliferative syndrome"	"MONDO:0016537"	"lymphoproliferative syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6171"	"ITK"	"MONDO:0016537"	"ITK-related Lymphoproliferative syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4945"	""	"22289921;21109689;19425169"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204945"	"2025-01-17"
"GENCC_000112-HGNC_6189-MONDO_0020121-HP_0000007-GENCC_100002"	"HGNC:6189"	"JAG2"	"MONDO:0020121"	"muscular dystrophy"	"MONDO:0020121"	"muscular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6189"	"JAG2"	"MONDO:0020121"	"JAG2-related muscular dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-07-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4727"	""	"33861953"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204727"	"2025-01-17"
"GENCC_000112-HGNC_26926-MONDO_0018542-HP_0000007-GENCC_100001"	"HGNC:26926"	"JAGN1"	"MONDO:0018542"	"severe congenital neutropenia"	"MONDO:0018542"	"severe congenital neutropenia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26926"	"JAGN1"	"MONDO:0018542"	"JAGN1-related SEVERE CONGENITAL NEUTROPENIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=649"	""	"25129144"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200649"	"2025-01-17"
"GENCC_000112-HGNC_6196-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:6196"	"JARID2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6196"	"JARID2"	"MONDO:0700092"	"JARID2-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4620"	""	"33077894;35533077"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204620"	"2025-01-17"
"GENCC_000112-HGNC_12313-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:12313"	"JMJD1C"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12313"	"JMJD1C"	"MONDO:0700092"	"JMJD1C-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-03-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5020"	""	"26181491;31954878"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205020"	"2025-01-17"
"GENCC_000112-HGNC_29300-OMIM_616099-HP_0000007-GENCC_100004"	"HGNC:29300"	"KANK2"	"MONDO:0014492"	"wooly hair-palmoplantar keratoderma syndrome"	"OMIM:616099"	"Palmoplantar keratoderma and woolly hair"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29300"	"KANK2"	"OMIM:616099"	"KANK2-related Palmoplantar keratoderma and woolly hair"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5306"	""	"24671081"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205306"	"2025-01-17"
"GENCC_000112-HGNC_6238-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:6238"	"KCND2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6238"	"KCND2"	"MONDO:0700092"	"KCND2-related neurodevelopmental disorder with or without seizures"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-07-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5169"	""	"34245260;24501278"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205169"	"2025-01-17"
"GENCC_000112-HGNC_6269-MONDO_0009406-HP_0000006-GENCC_100002"	"HGNC:6269"	"KCNJ8"	"MONDO:0009406"	"hypertrichotic osteochondrodysplasia Cantu type"	"MONDO:0009406"	"hypertrichotic osteochondrodysplasia Cantu type"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6269"	"KCNJ8"	"MONDO:0009406"	"KCNJ8-related Cantu syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4006"	""	"24176758;25275207;24700710"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204006"	"2025-01-17"
"GENCC_000112-HGNC_6292-MONDO_0000200-HP_0000006-GENCC_100002"	"HGNC:6292"	"KCNN3"	"MONDO:0000200"	"Zimmermann-Laband syndrome"	"MONDO:0000200"	"Zimmermann-Laband syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6292"	"KCNN3"	"MONDO:0000200"	"KCNN3-related ZIMMERMANN-LABAND SYNDROME"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4263"	""	"31155282"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204263"	"2025-01-17"
"GENCC_000112-HGNC_18865-MONDO_0017385-HP_0000006-GENCC_100001"	"HGNC:18865"	"KCNT1"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"MONDO:0017385"	"malignant migrating partial seizures of infancy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18865"	"KCNT1"	"MONDO:0017385"	"KCNT1-related MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1082"	""	"23086397"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201082"	"2025-01-17"
"GENCC_000112-HGNC_19698-MONDO_0012475-HP_0000007-GENCC_100001"	"HGNC:19698"	"KCNV2"	"MONDO:0012475"	"cone dystrophy with supernormal rod response"	"MONDO:0012475"	"cone dystrophy with supernormal rod response"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19698"	"KCNV2"	"MONDO:0012475"	"KCNV2-related Cone dystrophy with supernormal rod responses"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-10-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4346"	""	"19952985;16909397"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204346"	"2025-01-17"
"GENCC_000112-HGNC_6305-MONDO_0019019-HP_0000007-GENCC_100002"	"HGNC:6305"	"KDELR2"	"MONDO:0019019"	"osteogenesis imperfecta"	"MONDO:0019019"	"osteogenesis imperfecta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6305"	"KDELR2"	"MONDO:0019019"	"KDELR2-related Osteogenesis Imperfecta"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4627"	""	"33053334"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204627"	"2025-01-17"
"GENCC_000112-HGNC_13610-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:13610"	"KDM2B"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13610"	"KDM2B"	"MONDO:0700092"	"KDM2B-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-04-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5032"	""	"36322151"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205032"	"2025-01-17"
"GENCC_000112-HGNC_4021-OMIM_617526-HP_0000007-GENCC_100004"	"HGNC:4021"	"KDSR"	"MONDO:0033014"	"erythrokeratodermia variabilis et progressiva 4"	"OMIM:617526"	"Erythrokeratodermia variabilis et progressiva 4"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:4021"	"KDSR"	"OMIM:617526"	"KDSR-related Erythrokeratodermiavariabilis et progressiva 4"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5269"	""	"30467204"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205269"	"2025-01-17"
"GENCC_000112-HGNC_6309-MONDO_0000733-HP_0000007-GENCC_100001"	"HGNC:6309"	"KERA"	"MONDO:0000733"	"cornea plana"	"MONDO:0000733"	"cornea plana"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6309"	"KERA"	"MONDO:0000733"	"KERA-related Cornea plana"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2435"	""	"11726611;28677912;31059048;10828599;10802664"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202435"	"2025-01-17"
"GENCC_000112-HGNC_22219-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:22219"	"KIAA1549"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:22219"	"KIAA1549"	"MONDO:0019200"	"KIAA1549-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3942"	""	"30120214"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203942"	"2025-01-17"
"GENCC_000112-HGNC_19349-MONDO_0800209-HP_0000006-GENCC_100004"	"HGNC:19349"	"KIF21A"	"MONDO:0800209"	"fibrosis of extraocular muscles, congenital, 3b"	"MONDO:0800209"	"fibrosis of extraocular muscles, congenital, 3b"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19349"	"KIF21A"	"MONDO:0800209"	"KIF21A-related Fibrosis of extraocular muscles, congenital, 3B"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-05-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2446"	""	"15223798;18332320"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202446"	"2025-01-17"
"GENCC_000112-HGNC_6320-MONDO_0005308-HP_0000006-GENCC_100004"	"HGNC:6320"	"KIF3B"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6320"	"KIF3B"	"MONDO:0005308"	"KIF3B-related ciliopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-06-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4508"	""	"32386558"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204508"	"2025-01-17"
"GENCC_000112-HGNC_13339-OMIM_300923-HP_0001417-GENCC_100004"	"HGNC:13339"	"KIF4A"	"MONDO:0010488"	"intellectual disability, X-linked 100"	"OMIM:300923"	"Intellectual developmental disorder, X-linked 100"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:13339"	"KIF4A"	"OMIM:300923"	"KIF4A-related intellectual disability"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1771"	""	"24812067"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201771"	"2025-01-17"
"GENCC_000112-HGNC_6324-MONDO_0000001-HP_0000006-GENCC_100003"	"HGNC:6324"	"KIF5B"	"MONDO:0000001"	"disease"	"MONDO:0000001"	"disease"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6324"	"KIF5B"	"MONDO:0000001"	"KIF5B-related disease"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-07-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5056"	""	"35342932;36018820"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205056"	"2025-01-17"
"GENCC_000112-HGNC_6343-MONDO_0019517-HP_0000006-GENCC_100004"	"HGNC:6343"	"KITLG"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6343"	"KITLG"	"MONDO:0019517"	"KITLG-related WAARDENBURG SYNDROME TYPE 2"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2016-01-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2069"	""	"26522471"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202069"	"2025-01-17"
"GENCC_000112-HGNC_6350-MONDO_0700092-HP_0000006-GENCC_100001"	"HGNC:6350"	"KLF7"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6350"	"KLF7"	"MONDO:0700092"	"KLF7-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4534"	""	"29251763"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204534"	"2025-01-17"
"GENCC_000112-HGNC_29347-OMIM_300982-HP_0001417-GENCC_100004"	"HGNC:29347"	"KLHL15"	"MONDO:0010508"	"intellectual disability, X-linked 103"	"OMIM:300982"	"Intellectual developmental disorder, X-linked 103"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:29347"	"KLHL15"	"OMIM:300982"	"KLHL15-related IKLHL15-related intellectual disability"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2572"	""	"25644381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202572"	"2025-01-17"
"GENCC_000112-HGNC_25056-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:25056"	"KLHL20"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25056"	"KLHL20"	"MONDO:0700092"	"KLHL20-related developmental disorder with seizures"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-12-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5089"	""	"36214804"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205089"	"2025-01-17"
"GENCC_000112-HGNC_25947-OMIM_617294-HP_0000006-GENCC_100003"	"HGNC:25947"	"KLHL24"	"MONDO:0015006"	"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"	"OMIM:617294"	"Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25947"	"KLHL24"	"OMIM:617294"	"KLHL24-related Epidermolysis bullosa simplex, generalised intermediate, with or without cardiomyopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5265"	""	"30579426;27889062"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205265"	"2025-01-17"
"GENCC_000112-HGNC_15646-OMIM_617055-HP_0000007-GENCC_100002"	"HGNC:15646"	"KLHL7"	"MONDO:0014890"	"PERCHING syndrome"	"OMIM:617055"	"PERCHING syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15646"	"KLHL7"	"OMIM:617055"	"KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures)"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-11-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3975"	""	"38333279;30300710;27392078;30142437;35699517;29074562;37076692;35670385;30997404;31953236"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203975"	"2025-01-17"
"GENCC_000112-HGNC_13726-OMIM_617768-HP_0000006-GENCC_100002"	"HGNC:13726"	"KMT2C"	"MONDO:0054701"	"Kleefstra syndrome 2"	"OMIM:617768"	"Kleefstra syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13726"	"KMT2C"	"OMIM:617768"	"KMT2C-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3777"	""	"38146907;35324822;31712638;29276005;29069077"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203777"	"2025-01-17"
"GENCC_000112-HGNC_18541-OMIM_618512-HP_0000006-GENCC_100001"	"HGNC:18541"	"KMT2E"	"MONDO:0032793"	"O'Donnell-Luria-Rodan syndrome"	"OMIM:618512"	"O'Donnell-Luria-Rodan syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18541"	"KMT2E"	"OMIM:618512"	"KMT2E-related neurodevelopmental disorder/O'Donnell-Luria-Rodan syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-11-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3969"	""	"31079897;34321323"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203969"	"2025-01-17"
"GENCC_000112-HGNC_6412-MONDO_0011870-HP_0000006-GENCC_100001"	"HGNC:6412"	"KRT1"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6412"	"KRT1"	"MONDO:0011870"	"KRT1-related Ichthyosis, cyclic with epidermolytic hyperkeratosis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4187"	""	"10053007"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204187"	"2025-01-17"
"GENCC_000112-HGNC_6412-MONDO_0007808-HP_0000006-GENCC_100001"	"HGNC:6412"	"KRT1"	"MONDO:0007808"	"ichthyosis hystrix of Curth-Macklin"	"MONDO:0007808"	"ichthyosis hystrix of Curth-Macklin"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6412"	"KRT1"	"MONDO:0007808"	"KRT1-related Ichthyosis hystrix, Curth-Macklin type"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4190"	""	"11286616"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204190"	"2025-01-17"
"GENCC_000112-HGNC_6413-MONDO_0011870-HP_0000006-GENCC_100001"	"HGNC:6413"	"KRT10"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"MONDO:0011870"	"annular epidermolytic ichthyosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6413"	"KRT10"	"MONDO:0011870"	"KRT10-related Ichthyosis, cyclic with epidermolytic hyperkeratosis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4188"	""	"9036939"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204188"	"2025-01-17"
"GENCC_000112-HGNC_6416-MONDO_0017610-HP_0000007-GENCC_100001"	"HGNC:6416"	"KRT14"	"MONDO:0017610"	"epidermolysis bullosa simplex"	"MONDO:0017610"	"epidermolysis bullosa simplex"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6416"	"KRT14"	"MONDO:0017610"	"KRT14-related Epidermolysis Bullosa Simplex (recessive)"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4130"	""	"7526933"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204130"	"2025-01-17"
"GENCC_000112-HGNC_6416-MONDO_0008059-HP_0000006-GENCC_100001"	"HGNC:6416"	"KRT14"	"MONDO:0008059"	"Naegeli-Franceschetti-Jadassohn syndrome"	"MONDO:0008059"	"Naegeli-Franceschetti-Jadassohn syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6416"	"KRT14"	"MONDO:0008059"	"KRT14-related Naegeli syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4155"	""	"16960809"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204155"	"2025-01-17"
"GENCC_000112-HGNC_30839-OMIM_616760-HP_0000007-GENCC_100003"	"HGNC:30839"	"KRT25"	"MONDO:0014765"	"wooly hair, autosomal recessive 3"	"OMIM:616760"	"Woolly hair, autosomal recessive 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30839"	"KRT25"	"OMIM:616760"	"KRT25-related Woolly hair, autosomal recessive 3"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5256"	""	"33988877"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205256"	"2025-01-17"
"GENCC_000112-HGNC_6442-MONDO_0008371-HP_0000006-GENCC_100001"	"HGNC:6442"	"KRT5"	"MONDO:0008371"	"Dowling-Degos disease"	"MONDO:0008371"	"Dowling-Degos disease"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6442"	"KRT5"	"MONDO:0008371"	"KRT5-related Dowling-Degos disease"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3832"	""	"16465624;20222933"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203832"	"2025-01-17"
"GENCC_000112-HGNC_6442-OMIM_131960-HP_0000006-GENCC_100001"	"HGNC:6442"	"KRT5"	"MONDO:0007556"	"epidermolysis bullosa simplex 2F, with mottled pigmentation"	"OMIM:131960"	"Epidermolysis bullosa simplex 2F, with mottled pigmentation"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6442"	"KRT5"	"OMIM:131960"	"KRT5-related epidermolysis bullosa simplex (Mottled pigmentation)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4129"	""	"8799157"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204129"	"2025-01-17"
"GENCC_000112-HGNC_28927-OMIM_615896-HP_0000006-GENCC_100004"	"HGNC:28927"	"KRT71"	"MONDO:0014390"	"hypotrichosis 13"	"OMIM:615896"	"?Hypotrichosis 13"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:28927"	"KRT71"	"OMIM:615896"	"KRT71-related Hypotrichosis 13"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5305"	""	"22592156"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205305"	"2025-01-17"
"GENCC_000112-HGNC_6458-MONDO_0008009-HP_0000006-GENCC_100003"	"HGNC:6458"	"KRT81"	"MONDO:0008009"	"monilethrix"	"MONDO:0008009"	"monilethrix"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6458"	"KRT81"	"MONDO:0008009"	"KRT81-related Monilethrix"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4150"	""	"22670615;25557232;25809918"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204150"	"2025-01-17"
"GENCC_000112-HGNC_6460-MONDO_0008009-HP_0000006-GENCC_100003"	"HGNC:6460"	"KRT83"	"MONDO:0008009"	"monilethrix"	"MONDO:0008009"	"monilethrix"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6460"	"KRT83"	"MONDO:0008009"	"KRT83-related Monilethrix"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4151"	""	"22670615;25557232;25809918"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204151"	"2025-01-17"
"GENCC_000112-HGNC_6463-MONDO_0008009-HP_0000006-GENCC_100003"	"HGNC:6463"	"KRT86"	"MONDO:0008009"	"monilethrix"	"MONDO:0008009"	"monilethrix"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6463"	"KRT86"	"MONDO:0008009"	"KRT86-related Monilethrix"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4152"	""	"22670615;25557232;9241275;25809918"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204152"	"2025-01-17"
"GENCC_000112-HGNC_6483-MONDO_0009513-HP_0000007-GENCC_100001"	"HGNC:6483"	"LAMA3"	"MONDO:0009513"	"laryngo-onycho-cutaneous syndrome"	"MONDO:0009513"	"laryngo-onycho-cutaneous syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6483"	"LAMA3"	"MONDO:0009513"	"LAMA3-related Laryngoonychocutaneous syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4109"	""	"11810295;12915477;7633458;8586427"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204109"	"2025-01-17"
"GENCC_000112-HGNC_17095-MONDO_0017312-HP_0000007-GENCC_100002"	"HGNC:17095"	"LARS2"	"MONDO:0017312"	"Perrault syndrome"	"MONDO:0017312"	"Perrault syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17095"	"LARS2"	"MONDO:0017312"	"LARS2-related PERRAULT SYNDROME"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1040"	""	"23541342"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201040"	"2025-01-17"
"GENCC_000112-HGNC_25726-OMIM_309585-HP_0001417-GENCC_100004"	"HGNC:25726"	"LAS1L"	"MONDO:0010665"	"Wilson-Turner syndrome"	"OMIM:309585"	"Wilson-Turner syndrome"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:25726"	"LAS1L"	"OMIM:309585"	"LAS1L-related intellectual disability"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2573"	""	"25644381;34653234"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202573"	"2025-01-17"
"GENCC_000112-HGNC_6556-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:6556"	"LETM1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6556"	"LETM1"	"MONDO:0700092"	"LETM1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-02-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5001"	""	"36055214"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205001"	"2025-01-17"
"GENCC_000112-HGNC_18712-MONDO_0015168-HP_0000007-GENCC_100002"	"HGNC:18712"	"LGI4"	"MONDO:0015168"	"arthrogryposis multiplex congenita"	"MONDO:0015168"	"arthrogryposis multiplex congenita"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18712"	"LGI4"	"MONDO:0015168"	"LGI4-related ARTHROGRYPOSIS MULTIPLEX CONGENITA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3104"	""	"28318499"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203104"	"2025-01-17"
"GENCC_000112-HGNC_18483-OMIM_604379-HP_0000007-GENCC_100001"	"HGNC:18483"	"LIPH"	"MONDO:0011452"	"hypotrichosis 7"	"OMIM:604379"	"Woolly hair, autosomal recessive 2 with or without hypotrichosis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18483"	"LIPH"	"OMIM:604379"	"LIPH-related Woolly hair, autosomal recessive 2 with or without hypotrichosis / Hypotrichosis 7"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5299"	""	"29464811;19536142;33988877"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205299"	"2025-01-17"
"GENCC_000112-HGNC_18821-MONDO_0005347-HP_0000006-GENCC_100001"	"HGNC:18821"	"LIPI"	"MONDO:0005347"	"hypertriglyceridemia"	"MONDO:0005347"	"hypertriglyceridemia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18821"	"LIPI"	"MONDO:0005347"	"LIPI-related hypertriglycidaemia, familial"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4176"	""	"25487149"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204176"	"2025-01-17"
"GENCC_000112-HGNC_25287-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:25287"	"LMBRD2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25287"	"LMBRD2"	"MONDO:0001071"	"LMBRD2-associated intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-11-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4793"	""	"32820033"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204793"	"2025-01-17"
"GENCC_000112-HGNC_6636-MONDO_0800042-HP_0000007-GENCC_100001"	"HGNC:6636"	"LMNA"	"MONDO:0800042"	"restrictive dermopathy 1"	"MONDO:0800042"	"restrictive dermopathy 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6636"	"LMNA"	"MONDO:0800042"	"LMNA-related Restrictive dermopathy, lethal"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4232"	""	"15317753"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204232"	"2025-01-17"
"GENCC_000112-HGNC_6638-MONDO_0001149-HP_0000006-GENCC_100002"	"HGNC:6638"	"LMNB2"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6638"	"LMNB2"	"MONDO:0001149"	"LMNB2-related Primary Microcephaly"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4618"	""	"33033404"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204618"	"2025-01-17"
"GENCC_000112-HGNC_6648-OMIM_619897-HP_0000007-GENCC_100001"	"HGNC:6648"	"LMOD2"	"MONDO:0030887"	"cardiomyopathy, dilated, 2G"	"OMIM:619897"	"Cardiomyopathy, dilated, 2G"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6648"	"LMOD2"	"OMIM:619897"	"LMOD2-related infantile dilated cardiomyopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2023-08-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5069"	""	"35082396;37296576;31517052;34888509;35188328"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205069"	"2025-01-17"
"GENCC_000112-HGNC_21610-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:21610"	"LNPK"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21610"	"LNPK"	"MONDO:0700092"	"LNPK-associated neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4034"	""	"35599435;30032983"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204034"	"2025-01-17"
"GENCC_000112-HGNC_9479-MONDO_0005711-HP_0000006-GENCC_100004"	"HGNC:9479"	"LONP1"	"MONDO:0005711"	"congenital diaphragmatic hernia"	"MONDO:0005711"	"congenital diaphragmatic hernia"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9479"	"LONP1"	"MONDO:0005711"	"LONP1-associated congenital diaphragmatic hernia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-11-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4790"	""	"34547244"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204790"	"2025-01-17"
"GENCC_000112-HGNC_15520-OMIM_278150-HP_0000007-GENCC_100002"	"HGNC:15520"	"LPAR6"	"MONDO:0010206"	"hypotrichosis 8"	"OMIM:278150"	"Woolly hair, autosomal recessive 1, with or without hypotrichosis"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15520"	"LPAR6"	"OMIM:278150"	"LPAR6-related Woolly hair, autosomal recessive 1, with or without hypotrichosis / Hypotrichosis 8"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5301"	""	"31077348"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205301"	"2025-01-17"
"GENCC_000112-HGNC_6677-OMIM_238600-HP_0000007-GENCC_100001"	"HGNC:6677"	"LPL"	"MONDO:0009387"	"familial lipoprotein lipase deficiency"	"OMIM:238600"	"[High density lipoprotein cholesterol level QTL 11]"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6677"	"LPL"	"OMIM:238600"	"LPL-related Hyperlipoproteinaemia type 1"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4173"	""	"11334614"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204173"	"2025-01-17"
"GENCC_000112-HGNC_6694-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:6694"	"LRP2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6694"	"LRP2"	"MONDO:0001071"	"LRP2-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=403"	""	"23033978"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200403"	"2025-01-17"
"GENCC_000112-HGNC_6698-MONDO_0005486-HP_0000006-GENCC_100004"	"HGNC:6698"	"LRP6"	"MONDO:0005486"	"tooth agenesis"	"MONDO:0005486"	"tooth agenesis"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6698"	"LRP6"	"MONDO:0005486"	"LRP6-related Tooth Agenesis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-05-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2457"	""	"38385987;26963285"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202457"	"2025-01-17"
"GENCC_000112-HGNC_21173-OMIM_620199-HP_0000007-GENCC_100004"	"HGNC:21173"	"LTV1"	"MONDO:0859355"	"inflammatory poikiloderma with hair abnormalities and acral keratoses"	"OMIM:620199"	"Inflammatory poikiloderma with hair abnormalities and acral keratoses"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21173"	"LTV1"	"OMIM:620199"	"LTV1-related Inflammatory poikiloderma with hair abnormalities and acral keratoses"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5294"	""	"34999892"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205294"	"2025-01-17"
"GENCC_000112-HGNC_20218-MONDO_0018230-HP_0000007-GENCC_100002"	"HGNC:20218"	"LYSET"	"MONDO:0018230"	"skeletal dysplasia"	"MONDO:0018230"	"skeletal dysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20218"	"LYSET"	"MONDO:0018230"	"LYSET-related TMEM251-related skeletal dysplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-01-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4675"	""	"33252156"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204675"	"2025-01-17"
"GENCC_000112-HGNC_6742-MONDO_0008075-HP_0000006-GENCC_100001"	"HGNC:6742"	"LZTR1"	"MONDO:0008075"	"schwannomatosis"	"MONDO:0008075"	"schwannomatosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6742"	"LZTR1"	"MONDO:0008075"	"LZTR1-related SCHWANNOMATOSIS"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2310"	""	"25480913"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202310"	"2025-01-17"
"GENCC_000112-HGNC_6742-MONDO_0007254-HP_0000006-GENCC_100003"	"HGNC:6742"	"LZTR1"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6742"	"LZTR1"	"MONDO:0007254"	"LZTR1-related Breast cancer, susceptibility to"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-09-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5073"	""	"37592023"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205073"	"2025-01-17"
"GENCC_000112-HGNC_6742-MONDO_0018997-HP_0000007-GENCC_100002"	"HGNC:6742"	"LZTR1"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6742"	"LZTR1"	"MONDO:0018997"	"LZTR1-related Noonan syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-11-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3981"	""	"37936555;29959388;38135892;30368668;29469822;31182298"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203981"	"2025-01-17"
"GENCC_000112-HGNC_6408-MONDO_0007473-HP_0000006-GENCC_100002"	"HGNC:6408"	"MAFB"	"MONDO:0007473"	"Duane retraction syndrome"	"MONDO:0007473"	"Duane retraction syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6408"	"MAFB"	"MONDO:0007473"	"MAFB-related Duane retraction syndrome 3 (monoallelic, dominant negative)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-01-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4659"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204659"	"2025-01-17"
"GENCC_000112-HGNC_18957-MONDO_0033369-HP_0000006-GENCC_100004"	"HGNC:18957"	"MAGI2"	"MONDO:0033369"	"developmental and epileptic encephalopathy, 60"	"MONDO:0033369"	"developmental and epileptic encephalopathy, 60"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18957"	"MAGI2"	"MONDO:0033369"	"MAGI2-related EARLY ONSET EPILEPTIC ENCEPHALOPATHY"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1002"	""	"18565486"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201002"	"2025-01-17"
"GENCC_000112-HGNC_6825-MONDO_0024322-HP_0000007-GENCC_100004"	"HGNC:6825"	"MAN2A2"	"MONDO:0024322"	"disorder of glycosylation"	"MONDO:0024322"	"disorder of glycosylation"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:6825"	"MAN2A2"	"MONDO:0024322"	"MAN2A2-related disorder of glycosylation"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-03-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5014"	""	"36357165"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205014"	"2025-01-17"
"GENCC_000112-HGNC_6848-MONDO_0007254-HP_0000006-GENCC_100003"	"HGNC:6848"	"MAP3K1"	"MONDO:0007254"	"breast cancer"	"MONDO:0007254"	"breast cancer"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6848"	"MAP3K1"	"MONDO:0007254"	"MAP3K1-related Breast cancer, susceptibility to"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-09-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5074"	""	"37592023"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205074"	"2025-01-17"
"GENCC_000112-HGNC_6866-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:6866"	"MAP4K4"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6866"	"MAP4K4"	"MONDO:0700092"	"MAP4K4-related neurodevelopmental disorder with or without congenital anomalies"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-08-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5175"	""	"37126546;28518170;36469137"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205175"	"2025-01-17"
"GENCC_000112-HGNC_6871-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:6871"	"MAPK1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6871"	"MAPK1"	"MONDO:0700092"	"MAPK1-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4598"	""	"32721402"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204598"	"2025-01-17"
"GENCC_000112-HGNC_6891-OMIM_616734-HP_0000006-GENCC_100003"	"HGNC:6891"	"MAPRE2"	"MONDO:0014755"	"skin creases, congenital symmetric circumferential, 2"	"OMIM:616734"	"Symmetric circumferential skin creases, congenital, 2"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6891"	"MAPRE2"	"OMIM:616734"	"MAPRE2-related Symmetric circumferential skin creases, congenital, 2"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5257"	""	"31903734"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205257"	"2025-01-17"
"GENCC_000112-HGNC_29140-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:29140"	"MAU2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29140"	"MAU2"	"MONDO:0700092"	"MAU2-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-06-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4502"	""	"32433956"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204502"	"2025-01-17"
"GENCC_000112-HGNC_15455-MONDO_0000136-HP_0001417-GENCC_100001"	"HGNC:15455"	"MBTPS2"	"MONDO:0000136"	"keratosis follicularis spinulosa decalvans"	"MONDO:0000136"	"keratosis follicularis spinulosa decalvans"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:15455"	"MBTPS2"	"MONDO:0000136"	"MBTPS2-related Keratosis follicularis spinulosa decalvans"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4107"	""	"20672378"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204107"	"2025-01-17"
"GENCC_000112-HGNC_15455-OMIM_300918-HP_0001417-GENCC_100002"	"HGNC:15455"	"MBTPS2"	"MONDO:0010486"	"Olmsted syndrome, X-linked"	"OMIM:300918"	"?Olmsted syndrome, X-linked"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:15455"	"MBTPS2"	"OMIM:300918"	"MBTPS2-related Olmsted syndrome, X-linked"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5236"	""	"24313295;25886873"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205236"	"2025-01-17"
"GENCC_000112-HGNC_3498-MONDO_0024558-HP_0000006-GENCC_100002"	"HGNC:3498"	"MECOM"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"MONDO:0024558"	"radioulnar synostosis with amegakaryocytic thrombocytopenia 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:3498"	"MECOM"	"MONDO:0024558"	"MECOM-related Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-01-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2032"	""	"26581901"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202032"	"2025-01-17"
"GENCC_000112-HGNC_32687-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:32687"	"MED11"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:32687"	"MED11"	"MONDO:0700092"	"MED11-associated neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4928"	""	"36001086"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204928"	"2025-01-17"
"GENCC_000112-HGNC_22962-OMIM_616789-HP_0000006-GENCC_100002"	"HGNC:22962"	"MED13L"	"MONDO:0014773"	"cardiac anomalies - developmental delay - facial dysmorphism syndrome"	"OMIM:616789"	"Impaired intellectual development and distinctive facial features with or without cardiac defects"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:22962"	"MED13L"	"OMIM:616789"	"MED13L-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=446"	""	"25758992;28645799;33930262;25712080;29511999;32646507;25137640;29593475;29159987;34654706;24781760;29959045;34713510;23403903;28371282"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200446"	"2025-01-17"
"GENCC_000112-HGNC_2377-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:2377"	"MED27"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:2377"	"MED27"	"MONDO:0700092"	"MED27-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-01-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4671"	""	"37517035;33443317"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204671"	"2025-01-17"
"GENCC_000112-HGNC_13520-MONDO_0019019-HP_0000007-GENCC_100002"	"HGNC:13520"	"MESD"	"MONDO:0019019"	"osteogenesis imperfecta"	"MONDO:0019019"	"osteogenesis imperfecta"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13520"	"MESD"	"MONDO:0019019"	"MESD-related OSTEOGENESIS IMPERFECTA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-10-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4334"	""	"31564437"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204334"	"2025-01-17"
"GENCC_000112-HGNC_26988-MONDO_0001071-HP_0000007-GENCC_100001"	"HGNC:26988"	"METTL23"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26988"	"METTL23"	"MONDO:0001071"	"METTL23-related Intellectual Disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-03-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4473"	""	"24501276;32067349;24626631"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204473"	"2025-01-17"
"GENCC_000112-HGNC_16877-MONDO_0011002-HP_0000006-GENCC_100001"	"HGNC:16877"	"MFN2"	"MONDO:0011002"	"neuropathy, hereditary motor and sensory, type 6A"	"MONDO:0011002"	"neuropathy, hereditary motor and sensory, type 6A"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16877"	"MFN2"	"MONDO:0011002"	"MFN2-related Hereditary motor and sensory neuropathy VIA"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2942"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202942"	"2025-01-17"
"GENCC_000112-HGNC_16877-MONDO_0014906-HP_0000007-GENCC_100001"	"HGNC:16877"	"MFN2"	"MONDO:0014906"	"Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;"	"MONDO:0014906"	"Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16877"	"MFN2"	"MONDO:0014906"	"MFN2-related Charcot-Marie-Tooth disease, axonal, type 2A2B"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2943"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202943"	"2025-01-17"
"GENCC_000112-HGNC_26656-MONDO_0005129-HP_0000007-GENCC_100004"	"HGNC:26656"	"MFSD6L"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26656"	"MFSD6L"	"MONDO:0005129"	"MFSD6L-related Congenital cataract"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2946"	""	"22935719"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202946"	"2025-01-17"
"GENCC_000112-HGNC_31582-MONDO_0014747-HP_0000006-GENCC_100004"	"HGNC:31582"	"MIR204"	"MONDO:0014747"	"familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"	"MONDO:0014747"	"familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:31582"	"MIR204"	"MONDO:0014747"	"MIR204-related Retinal dystrophy and iris coloboma with or without cataract"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2951"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202951"	"2025-01-17"
"GENCC_000112-HGNC_7105-MONDO_0005012-HP_0000006-GENCC_100004"	"HGNC:7105"	"MITF"	"MONDO:0005012"	"cutaneous melanoma"	"MONDO:0005012"	"cutaneous melanoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7105"	"MITF"	"MONDO:0005012"	"MITF-related Melanoma, cutaneous malignant"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4936"	""	"22012259"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204936"	"2025-01-17"
"GENCC_000112-HGNC_7127-MONDO_0005835-HP_0000006-GENCC_100001"	"HGNC:7127"	"MLH1"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7127"	"MLH1"	"MONDO:0005835"	"MLH1-related Lynch syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4970"	""	"8128251;7584997;12919137;12124320;9245993;4063166;9831355;21785361;28754778;15571801;9927034;2022152;14635101;20533529;10598809;15923275;16341550;20858721;8145827;9927033;19142183;12112654"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204970"	"2025-01-17"
"GENCC_000112-HGNC_24515-MONDO_0005066-HP_0000007-GENCC_100004"	"HGNC:24515"	"MPC2"	"MONDO:0005066"	"metabolic disease"	"MONDO:0005066"	"metabolic disease"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24515"	"MPC2"	"MONDO:0005066"	"MPC2-related metabolic disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-07-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5051"	""	"36417180"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205051"	"2025-01-17"
"GENCC_000112-HGNC_7218-OMIM_614204-HP_0000007-GENCC_100004"	"HGNC:7218"	"MPO"	"MONDO:0013626"	"psoriasis 14, pustular"	"OMIM:614204"	"Psoriasis 14, pustular"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7218"	"MPO"	"OMIM:614204"	"MPO-related Generalised pustular psoriasis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5288"	""	"32758448;36585391"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205288"	"2025-01-17"
"GENCC_000112-HGNC_29819-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:29819"	"MRTFB"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29819"	"MRTFB"	"MONDO:0700092"	"MRTFB-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-12-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5093"	""	"37013900"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205093"	"2025-01-17"
"GENCC_000112-HGNC_7325-MONDO_0005835-HP_0000006-GENCC_100001"	"HGNC:7325"	"MSH2"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7325"	"MSH2"	"MONDO:0005835"	"MSH2-related Lynch syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4923"	""	"10528862;12694232;22781090;7874129;10051005;8723682;28754778;8261515;23170986;12658575;16451135;7937795;15042510"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204923"	"2025-01-17"
"GENCC_000112-HGNC_7329-MONDO_0005835-HP_0000006-GENCC_100001"	"HGNC:7329"	"MSH6"	"MONDO:0005835"	"Lynch syndrome"	"MONDO:0005835"	"Lynch syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7329"	"MSH6"	"MONDO:0005835"	"MSH6-related Lynch syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4969"	""	"28754778;9354786;7604266;10508506;8075649"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204969"	"2025-01-17"
"GENCC_000112-HGNC_7330-MONDO_0001149-HP_0000007-GENCC_100004"	"HGNC:7330"	"MSI1"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7330"	"MSI1"	"MONDO:0001149"	"MSI1-associated Microcephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-04-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3745"	""	"28572454"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203745"	"2025-01-17"
"GENCC_000112-HGNC_25544-MONDO_0700092-HP_0000006-GENCC_100001"	"HGNC:25544"	"MSL2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25544"	"MSL2"	"MONDO:0700092"	"MSL2-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4418"	""	"31332282;33057194"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204418"	"2025-01-17"
"GENCC_000112-HGNC_7490-MONDO_0004069-HP_0001427-GENCC_100004"	"HGNC:7490"	"MT-TL1"	"MONDO:0004069"	"inborn mitochondrial metabolism disorder"	"MONDO:0004069"	"inborn mitochondrial metabolism disorder"	"GENCC:100004"	"Limited"	"HP:0001427"	"Mitochondrial"	"GENCC:000112"	"G2P"	"HGNC:7490"	"MT-TL1"	"MONDO:0004069"	"MT-TL1-associated mitochondrial disorder"	"HP:0001427"	"mitochondrial"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4713"	""	"34075211"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204713"	"2025-01-17"
"GENCC_000112-HGNC_7413-MONDO_0007205-HP_0000006-GENCC_100002"	"HGNC:7413"	"MTAP"	"MONDO:0007205"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"MONDO:0007205"	"diaphyseal medullary stenosis-bone malignancy syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7413"	"MTAP"	"MONDO:0007205"	"MTAP-related Diaphyseal medullary stenosis with malignant fibrous histiocytoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-10-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4949"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204949"	"2025-01-17"
"GENCC_000112-HGNC_7428-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:7428"	"MTF1"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7428"	"MTF1"	"MONDO:0001071"	"MTF1-related intellectual disability "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=727"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200727"	"2025-01-17"
"GENCC_000112-HGNC_25094-MONDO_0000508-HP_0000006-GENCC_100003"	"HGNC:25094"	"MTSS2"	"MONDO:0000508"	"syndromic intellectual disability"	"MONDO:0000508"	"syndromic intellectual disability"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:25094"	"MTSS2"	"MONDO:0000508"	"MTSS2-associated syndromic intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4934"	""	"36067766"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204934"	"2025-01-17"
"GENCC_000112-HGNC_7527-MONDO_0012041-HP_0000007-GENCC_100001"	"HGNC:7527"	"MUTYH"	"MONDO:0012041"	"familial adenomatous polyposis 2"	"MONDO:0012041"	"familial adenomatous polyposis 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7527"	"MUTYH"	"MONDO:0012041"	"MUTYH-related ADENOMAS, MULTIPLE COLORECTAL"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2241"	""	"11818965;12393807;12606733;15690400"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202241"	"2025-01-17"
"GENCC_000112-HGNC_7529-OMIM_614714-HP_0000006-GENCC_100002"	"HGNC:7529"	"MVD"	"MONDO:0013868"	"porokeratosis 7, multiple types"	"OMIM:614714"	"Porokeratosis 7, multiple types"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7529"	"MVD"	"OMIM:614714"	"MVD-related Porokeratosis 7, multiple types"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5253"	""	"29722423"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205253"	"2025-01-17"
"GENCC_000112-HGNC_7530-OMIM_610377-HP_0000007-GENCC_100001"	"HGNC:7530"	"MVK"	"MONDO:0012481"	"mevalonic aciduria"	"OMIM:610377"	"Mevalonic aciduria"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7530"	"MVK"	"OMIM:610377"	"MVK-related mevalonic aciduria"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2965"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202965"	"2025-01-17"
"GENCC_000112-HGNC_7530-OMIM_175900-HP_0000006-GENCC_100001"	"HGNC:7530"	"MVK"	"MONDO:0008293"	"porokeratosis 3, disseminated superficial actinic type"	"OMIM:175900"	"Porokeratosis 3, multiple types"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7530"	"MVK"	"OMIM:175900"	"MVK-related Porokeratosis 3, multiple types"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5233"	""	"24781643;25059119;34751146"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205233"	"2025-01-17"
"GENCC_000112-HGNC_7568-MONDO_0019042-HP_0000006-GENCC_100003"	"HGNC:7568"	"MYH10"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"MONDO:0019042"	"multiple congenital anomalies/dysmorphic syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7568"	"MYH10"	"MONDO:0019042"	"MYH10-related multiple congenital anomalies"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2017-04-26 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2434"	""	"35980381;25356899;25003005"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202434"	"2025-01-17"
"GENCC_000112-HGNC_7569-MONDO_0025986-HP_0000007-GENCC_100004"	"HGNC:7569"	"MYH11"	"MONDO:0025986"	"megacystis-microcolon-intestinal hypoperistalsis syndrome"	"MONDO:0025986"	"megacystis-microcolon-intestinal hypoperistalsis syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7569"	"MYH11"	"MONDO:0025986"	"MYH11-related Megacystis-microcolon-intestinal hypoperistalsis syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-11-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3967"	""	"29575632;25407000"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203967"	"2025-01-17"
"GENCC_000112-HGNC_7590-MONDO_0100354-HP_0000007-GENCC_100002"	"HGNC:7590"	"MYLK"	"MONDO:0100354"	"megacystis-microcolon-intestinal hypoperistalsis syndrome 1"	"MONDO:0100354"	"megacystis-microcolon-intestinal hypoperistalsis syndrome 1"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7590"	"MYLK"	"MONDO:0100354"	"MYLK-related Megacystis Microcolon Intestinal Hypoperistalsis Syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3084"	""	"28602422"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203084"	"2025-01-17"
"GENCC_000112-HGNC_7610-MONDO_0020367-HP_0000006-GENCC_100001"	"HGNC:7610"	"MYOC"	"MONDO:0020367"	"juvenile open angle glaucoma"	"MONDO:0020367"	"juvenile open angle glaucoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7610"	"MYOC"	"MONDO:0020367"	"MYOC-related Juvenile open angle glaucoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-06-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2567"	""	"27080696;29540704;29600168;18214788;9639450;18385784;11774072"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202567"	"2025-01-17"
"GENCC_000112-HGNC_1181-MONDO_0004891-HP_0000006-GENCC_100002"	"HGNC:1181"	"MYRF"	"MONDO:0004891"	"hyperopia"	"MONDO:0004891"	"hyperopia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:1181"	"MYRF"	"MONDO:0004891"	"MYRF-related High hyperopia "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-06-10 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4088"	""	"31172260"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204088"	"2025-01-17"
"GENCC_000112-HGNC_19082-MONDO_0005115-HP_0000006-GENCC_100004"	"HGNC:19082"	"NALCN"	"MONDO:0005115"	"temporal lobe epilepsy"	"MONDO:0005115"	"temporal lobe epilepsy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19082"	"NALCN"	"MONDO:0005115"	"NALCN-related temporal lobe epilepsy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2024-08-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5178"	""	"37046053"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205178"	"2025-01-17"
"GENCC_000112-HGNC_15751-MONDO_0700092-HP_0000007-GENCC_100001"	"HGNC:15751"	"NAPB"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15751"	"NAPB"	"MONDO:0700092"	"NAPB-related Neurodevelopmental Disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4623"	""	"28097321;33189936;26235277"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204623"	"2025-01-17"
"GENCC_000112-HGNC_1112-MONDO_0001149-HP_0000007-GENCC_100004"	"HGNC:1112"	"NCAPH"	"MONDO:0001149"	"microcephaly"	"MONDO:0001149"	"microcephaly"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:1112"	"NCAPH"	"MONDO:0001149"	"NCAPH-related microcephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2016-11-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2173"	""	"27737959"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202173"	"2025-01-17"
"GENCC_000112-HGNC_7666-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:7666"	"NCKAP1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7666"	"NCKAP1"	"MONDO:0700092"	"NCKAP1-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-11-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4624"	""	"33157009"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204624"	"2025-01-17"
"GENCC_000112-HGNC_14466-MONDO_0018852-HP_0000007-GENCC_100004"	"HGNC:14466"	"NDRG4"	"MONDO:0018852"	"achromatopsia"	"MONDO:0018852"	"achromatopsia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14466"	"NDRG4"	"MONDO:0018852"	"NDRG4-related ACHROMATOPSIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3679"	""	"29320387"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203679"	"2025-01-17"
"GENCC_000112-HGNC_7683-OMIM_301020-HP_0001417-GENCC_100001"	"HGNC:7683"	"NDUFA1"	"MONDO:0026720"	"mitochondrial complex 1 deficiency, nuclear type 12"	"OMIM:301020"	"Mitochondrial complex I deficiency, nuclear type 12"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:7683"	"NDUFA1"	"OMIM:301020"	"NDUFA1-related mitochondrial respiratory chain complex I deficiency"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1996"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201996"	"2025-01-17"
"GENCC_000112-HGNC_33551-MONDO_0009723-HP_0000007-GENCC_100002"	"HGNC:33551"	"NDUFAF8"	"MONDO:0009723"	"Leigh syndrome"	"MONDO:0009723"	"Leigh syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:33551"	"NDUFAF8"	"MONDO:0009723"	"NDUFAF8-related Leigh Syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-01-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4449"	""	"31866046"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204449"	"2025-01-17"
"GENCC_000112-HGNC_20372-OMIM_300952-HP_0001417-GENCC_100002"	"HGNC:20372"	"NDUFB11"	"MONDO:0010494"	"linear skin defects with multiple congenital anomalies 3"	"OMIM:300952"	"Linear skin defects with multiple congenital anomalies 3"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:20372"	"NDUFB11"	"OMIM:300952"	"NDUFB11-related microphthalmia with linear skin defects syndrome"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1875"	""	"25772934"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201875"	"2025-01-17"
"GENCC_000112-HGNC_7703-OMIM_618252-HP_0000007-GENCC_100002"	"HGNC:7703"	"NDUFB8"	"MONDO:0032635"	"mitochondrial complex 1 deficiency, nuclear type 32"	"OMIM:618252"	"Mitochondrial complex I deficiency, nuclear type 32"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7703"	"NDUFB8"	"OMIM:618252"	"NDUFB8-related mitochondrial complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4014"	""	"29429571"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204014"	"2025-01-17"
"GENCC_000112-HGNC_7707-OMIM_618226-HP_0000007-GENCC_100001"	"HGNC:7707"	"NDUFS1"	"MONDO:0032610"	"mitochondrial complex 1 deficiency, nuclear type 5"	"OMIM:618226"	"Mitochondrial complex I deficiency, nuclear type 5"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7707"	"NDUFS1"	"OMIM:618226"	"NDUFS1-related mitochondrial respiratory chain complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1783"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201783"	"2025-01-17"
"GENCC_000112-HGNC_7708-OMIM_618228-HP_0000007-GENCC_100001"	"HGNC:7708"	"NDUFS2"	"MONDO:0032611"	"mitochondrial complex 1 deficiency, nuclear type 6"	"OMIM:618228"	"Mitochondrial complex I deficiency, nuclear type 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7708"	"NDUFS2"	"OMIM:618228"	"NDUFS2-related mitochondrial complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-06-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2555"	""	"11220739;22036843;20819849;9585441;22142868"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202555"	"2025-01-17"
"GENCC_000112-HGNC_7714-OMIM_618224-HP_0000007-GENCC_100001"	"HGNC:7714"	"NDUFS7"	"MONDO:0032608"	"mitochondrial complex 1 deficiency, nuclear type 3"	"OMIM:618224"	"Mitochondrial complex I deficiency, nuclear type 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7714"	"NDUFS7"	"OMIM:618224"	"NDUFS7-related mitochondrial respiratory chain complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1088"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201088"	"2025-01-17"
"GENCC_000112-HGNC_7715-OMIM_618222-HP_0000007-GENCC_100001"	"HGNC:7715"	"NDUFS8"	"MONDO:0032606"	"mitochondrial complex 1 deficiency, nuclear type 2"	"OMIM:618222"	"Mitochondrial complex I deficiency, nuclear type 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7715"	"NDUFS8"	"OMIM:618222"	"NDUFS8-related mitochondrial respiratory chain complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=270"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200270"	"2025-01-17"
"GENCC_000112-HGNC_7716-OMIM_618225-HP_0000007-GENCC_100001"	"HGNC:7716"	"NDUFV1"	"MONDO:0032609"	"mitochondrial complex 1 deficiency, nuclear type 4"	"OMIM:618225"	"Mitochondrial complex I deficiency, nuclear type 4"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7716"	"NDUFV1"	"OMIM:618225"	"NDUFV1-related mitochondrial complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=619"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200619"	"2025-01-17"
"GENCC_000112-HGNC_28018-MONDO_0012847-HP_0000007-GENCC_100001"	"HGNC:28018"	"NIPAL4"	"MONDO:0012847"	"autosomal recessive congenital ichthyosis 6"	"MONDO:0012847"	"autosomal recessive congenital ichthyosis 6"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28018"	"NIPAL4"	"MONDO:0012847"	"NIPAL4-related Ichthyosis, congenital, autosomal recessive"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4186"	""	"15317751"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204186"	"2025-01-17"
"GENCC_000112-HGNC_14374-MONDO_0014089-HP_0000006-GENCC_100004"	"HGNC:14374"	"NLRP1"	"MONDO:0014089"	"corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	"MONDO:0014089"	"corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14374"	"NLRP1"	"MONDO:0014089"	"NLRP1-related Corneal intraepithelial dyskeratosis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3019"	""	"23349227"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203019"	"2025-01-17"
"GENCC_000112-HGNC_16400-MONDO_0018768-HP_0000006-GENCC_100001"	"HGNC:16400"	"NLRP3"	"MONDO:0018768"	"familial cold autoinflammatory syndrome"	"MONDO:0018768"	"familial cold autoinflammatory syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16400"	"NLRP3"	"MONDO:0018768"	"NLRP3-related Familial cold autoinflammatory syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3854"	""	"11687797"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203854"	"2025-01-17"
"GENCC_000112-HGNC_7887-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:7887"	"NOVA2"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7887"	"NOVA2"	"MONDO:0700092"	"NOVA2-associated neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-06-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3781"	""	"32197073;35607920"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203781"	"2025-01-17"
"GENCC_000112-HGNC_7907-MONDO_0017842-HP_0000007-GENCC_100001"	"HGNC:7907"	"NPHP3"	"MONDO:0017842"	"Senior-Loken syndrome"	"MONDO:0017842"	"Senior-Loken syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:7907"	"NPHP3"	"MONDO:0017842"	"NPHP3-related Senior-Loken syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-10-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4350"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204350"	"2025-01-17"
"GENCC_000112-HGNC_7910-MONDO_0015780-HP_0000006-GENCC_100002"	"HGNC:7910"	"NPM1"	"MONDO:0015780"	"dyskeratosis congenita"	"MONDO:0015780"	"dyskeratosis congenita"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:7910"	"NPM1"	"MONDO:0015780"	"NPM1-related Dyskeratosis Congenita"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-10-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4337"	""	"31570891"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204337"	"2025-01-17"
"GENCC_000112-HGNC_8002-MONDO_0013402-HP_0000007-GENCC_100001"	"HGNC:8002"	"NRL"	"MONDO:0013402"	"retinitis pigmentosa 27"	"MONDO:0013402"	"retinitis pigmentosa 27"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8002"	"NRL"	"MONDO:0013402"	"NRL-related Retinal degeneration, autosomal recessive, clumped pigment type"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2547"	""	"27732723;15591106;29385733"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202547"	"2025-01-17"
"GENCC_000112-HGNC_8032-MONDO_0030922-HP_0000006-GENCC_100002"	"HGNC:8032"	"NTRK2"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8032"	"NTRK2"	"MONDO:0030922"	"NTRK2-related Epilepsy and intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3658"	""	"29100083"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203658"	"2025-01-17"
"GENCC_000112-HGNC_20278-OMIM_618242-HP_0000007-GENCC_100001"	"HGNC:20278"	"NUBPL"	"MONDO:0032625"	"mitochondrial complex 1 deficiency, nuclear type 21"	"OMIM:618242"	"Mitochondrial complex I deficiency, nuclear type 21"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20278"	"NUBPL"	"OMIM:618242"	"NUBPL-related mitochondrial complex I deficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1840"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201840"	"2025-01-17"
"GENCC_000112-HGNC_21042-MONDO_0030922-HP_0000006-GENCC_100002"	"HGNC:21042"	"NUS1"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:21042"	"NUS1"	"MONDO:0030922"	"NUS1-related Epilepsy and intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3659"	""	"29100083"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203659"	"2025-01-17"
"GENCC_000112-HGNC_8091-MONDO_0009796-HP_0000007-GENCC_100001"	"HGNC:8091"	"OAT"	"MONDO:0009796"	"ornithine aminotransferase deficiency"	"MONDO:0009796"	"ornithine aminotransferase deficiency"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8091"	"OAT"	"MONDO:0009796"	"OAT-related Gyrate atrophy of choroid and retina with or without ornithinemia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2986"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202986"	"2025-01-17"
"GENCC_000112-HGNC_26560-MONDO_0016575-HP_0000007-GENCC_100001"	"HGNC:26560"	"ODAD1"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26560"	"ODAD1"	"MONDO:0016575"	"ODAD1-related PRIMARY CILIARY DYSKINESIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1174"	""	"23261303;23261302"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201174"	"2025-01-17"
"GENCC_000112-HGNC_8124-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:8124"	"OGDH"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8124"	"OGDH"	"MONDO:0700092"	"OGDH-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2021-09-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4781"	""	"36520152;32383294"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204781"	"2025-01-17"
"GENCC_000112-HGNC_8138-MONDO_0016391-HP_0000007-GENCC_100002"	"HGNC:8138"	"ONECUT1"	"MONDO:0016391"	"neonatal diabetes mellitus"	"MONDO:0016391"	"neonatal diabetes mellitus"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8138"	"ONECUT1"	"MONDO:0016391"	"ONECUT1-related neonatal diabetes"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-11-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4788"	""	"37639628;37941991;34663987"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204788"	"2025-01-17"
"GENCC_000112-HGNC_8140-MONDO_0003608-HP_0000006-GENCC_100001"	"HGNC:8140"	"OPA1"	"MONDO:0003608"	"optic atrophy"	"MONDO:0003608"	"optic atrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8140"	"OPA1"	"MONDO:0003608"	"OPA1-related Optic atrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2441"	""	"7951248"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202441"	"2025-01-17"
"GENCC_000112-HGNC_8140-MONDO_0007429-HP_0000006-GENCC_100001"	"HGNC:8140"	"OPA1"	"MONDO:0007429"	"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"	"MONDO:0007429"	"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8140"	"OPA1"	"MONDO:0007429"	"OPA1-related optic atrophy plus syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-01-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3713"	""	"16240368;16158427;15531309;20157015"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203713"	"2025-01-17"
"GENCC_000112-HGNC_8142-MONDO_0008133-HP_0000006-GENCC_100001"	"HGNC:8142"	"OPA3"	"MONDO:0008133"	"optic atrophy 3"	"MONDO:0008133"	"optic atrophy 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8142"	"OPA3"	"MONDO:0008133"	"OPA3-related Optic atrophy 3 with cataract"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-06-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2584"	""	"28050599;25159689;15342707"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202584"	"2025-01-17"
"GENCC_000112-HGNC_4206-OMIM_303700-HP_0001417-GENCC_100001"	"HGNC:4206"	"OPN1MW"	"MONDO:0010563"	"blue cone monochromacy"	"OMIM:303700"	"Blue cone monochromacy"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:4206"	"OPN1MW"	"OMIM:303700"	"OPN1MW-related blue cone monochromacy"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2992"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202992"	"2025-01-17"
"GENCC_000112-HGNC_25402-MONDO_0700092-HP_0001417-GENCC_100002"	"HGNC:25402"	"OTUD5"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:25402"	"OTUD5"	"MONDO:0700092"	"OTUD5-associated neurodevelopmental disorder"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2023-04-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5031"	""	"33748114;33131077;33523931"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205031"	"2025-01-17"
"GENCC_000112-HGNC_8547-MONDO_0001384-HP_0000006-GENCC_100002"	"HGNC:8547"	"P4HA2"	"MONDO:0001384"	"myopia"	"MONDO:0001384"	"myopia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8547"	"P4HA2"	"MONDO:0001384"	"P4HA2-related Myopia"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-01-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4002"	""	"29364500;25741866"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204002"	"2025-01-17"
"GENCC_000112-HGNC_30032-OMIM_615009-HP_0000006-GENCC_100001"	"HGNC:30032"	"PACS1"	"MONDO:0014006"	"Schuurs-Hoeijmakers syndrome"	"OMIM:615009"	"Schuurs-Hoeijmakers syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:30032"	"PACS1"	"OMIM:615009"	"PACS1-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1763"	""	"25522177;34517877;37064331;26842493;37373745;28975623;36210549;34068396;23159249;29550517;37141437;34373684;30113927;37218682;28111752;36415352;37747683"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201763"	"2025-01-17"
"GENCC_000112-HGNC_18337-OMIM_191480-HP_0000007-GENCC_100002"	"HGNC:18337"	"PADI3"	"MONDO:0020736"	"uncombable hair syndrome 1"	"OMIM:191480"	"Uncombable hair syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18337"	"PADI3"	"OMIM:191480"	"PADI3-related Uncombable hair syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5307"	""	"27866708;28087452"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205307"	"2025-01-17"
"GENCC_000112-HGNC_8590-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:8590"	"PAK1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8590"	"PAK1"	"MONDO:0700092"	"PAK1-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4046"	""	"30290153"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204046"	"2025-01-17"
"GENCC_000112-HGNC_8592-MONDO_0009022-HP_0001417-GENCC_100001"	"HGNC:8592"	"PAK3"	"MONDO:0009022"	"corpus callosum, agenesis of"	"MONDO:0009022"	"corpus callosum, agenesis of"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:8592"	"PAK3"	"MONDO:0009022"	"PAK3-related AGENESIS OF THE CORPUS CALLOSUM"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1368"	""	"28126652;10946356;18523455;31444167;34227036;24556213;17853471;25666757;32050918;28481730;9731525;34014906;31678216;29246092;12884430;28322502"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201368"	"2025-01-17"
"GENCC_000112-HGNC_19366-MONDO_0005129-HP_0000006-GENCC_100004"	"HGNC:19366"	"PANK4"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19366"	"PANK4"	"MONDO:0005129"	"PANK4-related Congenital cataract"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2019-06-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4084"	""	"30585370"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204084"	"2025-01-17"
"GENCC_000112-HGNC_8617-MONDO_0007862-HP_0000007-GENCC_100003"	"HGNC:8617"	"PAX3"	"MONDO:0007862"	"Waardenburg syndrome type 3"	"MONDO:0007862"	"Waardenburg syndrome type 3"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8617"	"PAX3"	"MONDO:0007862"	"PAX3-related Waardenburg syndrome type 3"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-11-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4967"	""	"12949970;7726174;35607853;26443304"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204967"	"2025-01-17"
"GENCC_000112-HGNC_12929-OMIM_618371-HP_0000006-GENCC_100002"	"HGNC:12929"	"PCGF2"	"MONDO:0032707"	"turnpenny-fry syndrome"	"OMIM:618371"	"Turnpenny-Fry syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12929"	"PCGF2"	"OMIM:618371"	"PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1057"	""	"30526864;34750959;36105049;30343942"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201057"	"2025-01-17"
"GENCC_000112-HGNC_8790-MONDO_0018852-HP_0000007-GENCC_100002"	"HGNC:8790"	"PDE6H"	"MONDO:0018852"	"achromatopsia"	"MONDO:0018852"	"achromatopsia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8790"	"PDE6H"	"MONDO:0018852"	"PDE6H-related ACHROMATOPSIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1667"	""	"27472364;22901948"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201667"	"2025-01-17"
"GENCC_000112-HGNC_8803-MONDO_0008285-HP_0000006-GENCC_100001"	"HGNC:8803"	"PDGFRA"	"MONDO:0008285"	"polyps, multiple and recurrent inflammatory fibroid, gastrointestinal"	"MONDO:0008285"	"polyps, multiple and recurrent inflammatory fibroid, gastrointestinal"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8803"	"PDGFRA"	"MONDO:0008285"	"PDGFRA-related Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-11-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4979"	""	"17087943"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204979"	"2025-01-17"
"GENCC_000112-HGNC_8804-MONDO_0009227-HP_0000006-GENCC_100001"	"HGNC:8804"	"PDGFRB"	"MONDO:0009227"	"myofibromatosis, infantile, 1"	"MONDO:0009227"	"myofibromatosis, infantile, 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8804"	"PDGFRB"	"MONDO:0009227"	"PDGFRB-related Myofibromatosis, infantile"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-11-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4972"	""	"23731537"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204972"	"2025-01-17"
"GENCC_000112-HGNC_17637-OMIM_619208-HP_0000006-GENCC_100002"	"HGNC:17637"	"PERP"	"MONDO:0030961"	"Olmsted syndrome 2"	"OMIM:619208"	"Olmsted syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17637"	"PERP"	"OMIM:619208"	"PERP-related Olmsted syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5278"	""	"34265120;31361044"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205278"	"2025-01-17"
"GENCC_000112-HGNC_17637-OMIM_619209-HP_0000007-GENCC_100003"	"HGNC:17637"	"PERP"	"MONDO:0030941"	"erythrokeratodermia variabilis et progressiva 7"	"OMIM:619209"	"Erythrokeratodermia variabilis et progressiva 7"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17637"	"PERP"	"OMIM:619209"	"PERP-related Erythrokeratodermia variabilis et progressiva 7"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5279"	""	"31898316"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205279"	"2025-01-17"
"GENCC_000112-HGNC_8858-OMIM_617370-HP_0000007-GENCC_100002"	"HGNC:8858"	"PEX3"	"MONDO:0054549"	"peroxisome biogenesis disorder 10B"	"OMIM:617370"	"?Peroxisome biogenesis disorder 10B"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8858"	"PEX3"	"OMIM:617370"	"PEX3-related Peroxisome biogenesis disorder 10B"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3042"	""	"27557811"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203042"	"2025-01-17"
"GENCC_000112-HGNC_8859-OMIM_616617-HP_0000007-GENCC_100003"	"HGNC:8859"	"PEX6"	"MONDO:0014709"	"Heimler syndrome 2"	"OMIM:616617"	"Heimler syndrome 2"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8859"	"PEX6"	"OMIM:616617"	"PEX6-related Heimler syndrome 2"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5255"	""	"29676688"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205255"	"2025-01-17"
"GENCC_000112-HGNC_17893-OMIM_614207-HP_0000007-GENCC_100001"	"HGNC:17893"	"PGAP2"	"MONDO:0013628"	"hyperphosphatasia with intellectual disability syndrome 3"	"OMIM:614207"	"Hyperphosphatasia with impaired intellectual development syndrome 3"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17893"	"PGAP2"	"OMIM:614207"	"PGAP2-related intellectual disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=349"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200349"	"2025-01-17"
"GENCC_000112-HGNC_20898-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:20898"	"PGM2L1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20898"	"PGM2L1"	"MONDO:0700092"	"PGM2L1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4737"	""	"33979636"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204737"	"2025-01-17"
"GENCC_000112-HGNC_18000-MONDO_0100465-HP_0000006-GENCC_100003"	"HGNC:18000"	"PHF5A"	"MONDO:0100465"	"complex neurodevelopmental disorder with or without congenital anomalies"	"MONDO:0100465"	"complex neurodevelopmental disorder with or without congenital anomalies"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18000"	"PHF5A"	"MONDO:0100465"	"PHF5A-related neurodevelopmental disorder with congenital malformations"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-12-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5088"	""	"33811463;37422718"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205088"	"2025-01-17"
"GENCC_000112-HGNC_8923-OMIM_256520-HP_0000007-GENCC_100003"	"HGNC:8923"	"PHGDH"	"MONDO:0009736"	"Neu-Laxova syndrome 1"	"OMIM:256520"	"Neu-Laxova syndrome 1"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8923"	"PHGDH"	"OMIM:256520"	"PHGDH-related Neu-Laxova syndrome 1"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5248"	""	"24836451"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205248"	"2025-01-17"
"GENCC_000112-HGNC_16491-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:16491"	"PIDD1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:16491"	"PIDD1"	"MONDO:0700092"	"PIDD1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-01-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4667"	""	"33414379"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204667"	"2025-01-17"
"GENCC_000112-HGNC_3046-MONDO_0100247-HP_0000007-GENCC_100003"	"HGNC:3046"	"PIGP"	"MONDO:0100247"	"multiple congenital anomalies-hypotonia-seizures syndrome"	"MONDO:0100247"	"multiple congenital anomalies-hypotonia-seizures syndrome"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:3046"	"PIGP"	"MONDO:0100247"	"PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5057"	""	"37125481;31139695;28334793;32042915"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205057"	"2025-01-17"
"GENCC_000112-HGNC_8996-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:8996"	"PIP5K1C"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:8996"	"PIP5K1C"	"MONDO:0700092"	"PIP5K1C-associated neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5060"	""	"37451268"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205060"	"2025-01-17"
"GENCC_000112-HGNC_18053-MONDO_0014967-HP_0000007-GENCC_100001"	"HGNC:18053"	"PKD1L1"	"MONDO:0014967"	"heterotaxy, visceral, 8, autosomal"	"MONDO:0014967"	"heterotaxy, visceral, 8, autosomal"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18053"	"PKD1L1"	"MONDO:0014967"	"PKD1L1-related Laterality defects"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2163"	""	"27616478;35691949"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202163"	"2025-01-17"
"GENCC_000112-HGNC_17825-OMIM_620683-HP_0000007-GENCC_100004"	"HGNC:17825"	"PLAAT3"	"MONDO:0958034"	"lipodystrophy, familial partial, type 9"	"OMIM:620683"	"Lipodystrophy, familial partial, type 9"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17825"	"PLAAT3"	"OMIM:620683"	"PLAAT3-related lipodystrophy syndrome with neurological features"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2024-12-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5219"	""	"37919452"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205219"	"2025-01-17"
"GENCC_000112-HGNC_9060-OMIM_151600-HP_0000006-GENCC_100004"	"HGNC:9060"	"PLCD1"	"MONDO:0007900"	"nonsyndromic congenital nail disorder 3"	"OMIM:151600"	"Nail disorder, nonsyndromic congenital, 3, (leukonychia)"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9060"	"PLCD1"	"OMIM:151600"	"PLCD1-related Nail disorder, nonsyndromic congenital, 3, (leukonychia)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5284"	""	"31082376"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205284"	"2025-01-17"
"GENCC_000112-HGNC_9069-MONDO_0017610-HP_0000006-GENCC_100002"	"HGNC:9069"	"PLEC"	"MONDO:0017610"	"epidermolysis bullosa simplex"	"MONDO:0017610"	"epidermolysis bullosa simplex"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9069"	"PLEC"	"MONDO:0017610"	"PLEC-related Epidermolysis Bullosa Simplex (Ogna)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4132"	""	"11851880"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204132"	"2025-01-17"
"GENCC_000112-HGNC_9091-OMIM_300910-HP_0001417-GENCC_100001"	"HGNC:9091"	"PLS3"	"MONDO:0018315"	"X-linked osteoporosis with fractures"	"OMIM:300910"	"Bone mineral density QTL18, osteoporosis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:9091"	"PLS3"	"OMIM:300910"	"PLS3-related osteoporosis with fractures"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2024-09-04 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5187"	""	"28748388;29736964;25209159;24616189;28620780;24088043;38043102;35752817;28777485"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205187"	"2025-01-17"
"GENCC_000112-HGNC_9099-OMIM_619955-HP_0000007-GENCC_100004"	"HGNC:9099"	"PLXNA1"	"MONDO:0859260"	"Dworschak-Punetha neurodevelopmental syndrome"	"OMIM:619955"	"Dworschak-Punetha neurodevelopmental syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9099"	"PLXNA1"	"OMIM:619955"	"PLXNA1-associated neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4711"	""	"34054129"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204711"	"2025-01-17"
"GENCC_000112-HGNC_9107-OMIM_157900-HP_0000006-GENCC_100004"	"HGNC:9107"	"PLXND1"	"MONDO:0008006"	"Mobius syndrome"	"OMIM:157900"	"?Moebius syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9107"	"PLXND1"	"OMIM:157900"	"PLXND1-related Moebius syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=392"	""	"26068067"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200392"	"2025-01-17"
"GENCC_000112-HGNC_9141-OMIM_175800-HP_0000006-GENCC_100001"	"HGNC:9141"	"PMVK"	"MONDO:0008290"	"porokeratosis 1, Mibelli type"	"OMIM:175800"	"Porokeratosis 1, multiple types"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9141"	"PMVK"	"OMIM:175800"	"PMVK-related Porokeratosis 1, multiple types"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5252"	""	"30942823"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205252"	"2025-01-17"
"GENCC_000112-HGNC_21246-MONDO_0014011-HP_0000007-GENCC_100002"	"HGNC:21246"	"PNPLA1"	"MONDO:0014011"	"autosomal recessive congenital ichthyosis 10"	"MONDO:0014011"	"autosomal recessive congenital ichthyosis 10"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:21246"	"PNPLA1"	"MONDO:0014011"	"PNPLA1-related CONGENITAL ICHTHYOSIS"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1009"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201009"	"2025-01-17"
"GENCC_000112-HGNC_23166-MONDO_0005365-HP_0000007-GENCC_100001"	"HGNC:23166"	"PNPT1"	"MONDO:0005365"	"hearing loss disorder"	"MONDO:0005365"	"hearing loss disorder"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23166"	"PNPT1"	"MONDO:0005365"	"PNPT1-related HEARING LOSS"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1404"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201404"	"2025-01-17"
"GENCC_000112-HGNC_14988-OMIM_615327-HP_0000006-GENCC_100002"	"HGNC:14988"	"POFUT1"	"MONDO:0014130"	"Dowling-Degos disease 2"	"OMIM:615327"	"Dowling-Degos disease 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:14988"	"POFUT1"	"OMIM:615327"	"POFUT1-related Dowling-Degos disease 2"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5238"	""	"25229252;25639155"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205238"	"2025-01-17"
"GENCC_000112-HGNC_22954-OMIM_615696-HP_0000006-GENCC_100002"	"HGNC:22954"	"POGLUT1"	"MONDO:0014307"	"Dowling-Degos disease 4"	"OMIM:615696"	"Dowling-Degos disease 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:22954"	"POGLUT1"	"OMIM:615696"	"POGLUT1-related Dowling-Degos disease 4"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5245"	""	"30414910"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205245"	"2025-01-17"
"GENCC_000112-HGNC_18801-OMIM_616364-HP_0000006-GENCC_100001"	"HGNC:18801"	"POGZ"	"MONDO:0014606"	"intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"	"OMIM:616364"	"White-Sutton syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18801"	"POGZ"	"OMIM:616364"	"POGZ-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=814"	""	"34133408;35396900;27148570;26942287;25533962;28480548;27103995;26739615;37619992;31136090;26763879;32359026;31347273;35052493;31782611;30879264;32103003;31196716;33277917;35821784;25694107"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200814"	"2025-01-17"
"GENCC_000112-HGNC_9177-MONDO_0013873-HP_0000007-GENCC_100002"	"HGNC:9177"	"POLE"	"MONDO:0013873"	"IMAGe syndrome"	"MONDO:0013873"	"IMAGe syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9177"	"POLE"	"MONDO:0013873"	"POLE-related IMAGe Syndrome with variable immunodeficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-11-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3983"	""	"35860951;25948378;30503519;23230001"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203983"	"2025-01-17"
"GENCC_000112-HGNC_9179-MONDO_0019791-HP_0000007-GENCC_100001"	"HGNC:9179"	"POLG"	"MONDO:0019791"	"recessive mitochondrial ataxia syndrome"	"MONDO:0019791"	"recessive mitochondrial ataxia syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9179"	"POLG"	"MONDO:0019791"	"POLG-related Mitochondrial recessive ataxia syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3087"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203087"	"2025-01-17"
"GENCC_000112-HGNC_20194-MONDO_0019046-HP_0000007-GENCC_100002"	"HGNC:20194"	"POLR1C"	"MONDO:0019046"	"leukodystrophy"	"MONDO:0019046"	"leukodystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20194"	"POLR1C"	"MONDO:0019046"	"POLR1C-related Leukodystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-03-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4476"	""	"21131976;32042905;26151409"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204476"	"2025-01-17"
"GENCC_000112-HGNC_9187-OMIM_618603-HP_0000006-GENCC_100001"	"HGNC:9187"	"POLR2A"	"MONDO:0032829"	"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"OMIM:618603"	"Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9187"	"POLR2A"	"OMIM:618603"	"POLR2A-related syndromic intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4253"	""	"35461703;33665635;31353023"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204253"	"2025-01-17"
"GENCC_000112-HGNC_30348-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:30348"	"POLR3B"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:30348"	"POLR3B"	"MONDO:0700092"	"POLR3B-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-01-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4666"	""	"33417887"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204666"	"2025-01-17"
"GENCC_000112-HGNC_26267-MONDO_0014101-HP_0000007-GENCC_100001"	"HGNC:26267"	"POMK"	"MONDO:0014101"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"	"MONDO:0014101"	"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26267"	"POMK"	"MONDO:0014101"	"POMK-related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4602"	""	"24925318;31833209;24556084;32907597"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204602"	"2025-01-17"
"GENCC_000112-HGNC_30129-MONDO_0011773-HP_0000007-GENCC_100001"	"HGNC:30129"	"POP1"	"MONDO:0011773"	"anauxetic dysplasia"	"MONDO:0011773"	"anauxetic dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30129"	"POP1"	"MONDO:0011773"	"POP1-related Anauxetic Dysplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2023-12-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5098"	""	"21455487;27380734;28067412"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205098"	"2025-01-17"
"GENCC_000112-HGNC_17284-OMIM_620368-HP_0000007-GENCC_100004"	"HGNC:17284"	"POT1"	"MONDO:0957264"	"cerebroretinal microangiopathy with calcifications and cysts 3"	"OMIM:620368"	"?Cerebroretinal microangiopathy with calcifications and cysts 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17284"	"POT1"	"OMIM:620368"	"POT1-related Coats Plus"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2016-07-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2141"	""	"27013236"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202141"	"2025-01-17"
"GENCC_000112-HGNC_9216-OMIM_618604-HP_0000006-GENCC_100001"	"HGNC:9216"	"POU3F3"	"MONDO:0032830"	"snijders blok-fisher syndrome"	"OMIM:618604"	"Snijders Blok-Fisher syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9216"	"POU3F3"	"OMIM:618604"	"POU3F3-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4250"	""	"31303265"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204250"	"2025-01-17"
"GENCC_000112-HGNC_9236-MONDO_0011448-HP_0000006-GENCC_100001"	"HGNC:9236"	"PPARG"	"MONDO:0011448"	"PPARG-related familial partial lipodystrophy"	"MONDO:0011448"	"PPARG-related familial partial lipodystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9236"	"PPARG"	"MONDO:0011448"	"PPARG-related Lipodystrophy, familial partial type 3"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4115"	""	"12453919;10622252"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204115"	"2025-01-17"
"GENCC_000112-HGNC_9247-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:9247"	"PPFIA3"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9247"	"PPFIA3"	"MONDO:0700092"	"PPFIA3-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-06-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5164"	""	"38181735"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205164"	"2025-01-17"
"GENCC_000112-HGNC_9249-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:9249"	"PPFIBP1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9249"	"PPFIBP1"	"MONDO:0700092"	"PPFIBP1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-08-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4913"	""	"35830857;30214071"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204913"	"2025-01-17"
"GENCC_000112-HGNC_18838-MONDO_0005021-HP_0000007-GENCC_100001"	"HGNC:18838"	"PPP1R13L"	"MONDO:0005021"	"dilated cardiomyopathy"	"MONDO:0005021"	"dilated cardiomyopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18838"	"PPP1R13L"	"MONDO:0005021"	"PPP1R13L-related dilated cardiomyopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-10-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4613"	""	"28069640;32666529"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204613"	"2025-01-17"
"GENCC_000112-HGNC_30595-OMIM_619383-HP_0000007-GENCC_100001"	"HGNC:30595"	"PPP1R21"	"MONDO:0859165"	"neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"	"OMIM:619383"	"Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30595"	"PPP1R21"	"OMIM:619383"	"PPP1R21-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-10-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4607"	""	"29808498;32985083;28940097;30520571"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204607"	"2025-01-17"
"GENCC_000112-HGNC_9302-OMIM_616362-HP_0000006-GENCC_100001"	"HGNC:9302"	"PPP2R1A"	"MONDO:0014605"	"Houge-Janssens syndrome 2"	"OMIM:616362"	"Houge-Janssens syndrome 2"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9302"	"PPP2R1A"	"OMIM:616362"	"PPP2R1A-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1769"	""	"25533962"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201769"	"2025-01-17"
"GENCC_000112-HGNC_9312-OMIM_616355-HP_0000006-GENCC_100001"	"HGNC:9312"	"PPP2R5D"	"MONDO:0014602"	"Hogue-Janssens syndrome 1"	"OMIM:616355"	"Houge-Janssens syndrome 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9312"	"PPP2R5D"	"OMIM:616355"	"PPP2R5D-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1587"	""	"33338668;26576547;36403339;33628804;34448180;25972378;25533962;36216457;37248744"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201587"	"2025-01-17"
"GENCC_000112-HGNC_13998-MONDO_0007630-HP_0000006-GENCC_100001"	"HGNC:13998"	"PRDM13"	"MONDO:0007630"	"North Carolina macular dystrophy"	"MONDO:0007630"	"North Carolina macular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13998"	"PRDM13"	"MONDO:0007630"	"PRDM13-related North Carolina macular dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-01-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3707"	""	"26507665;27777503;28973654"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203707"	"2025-01-17"
"GENCC_000112-HGNC_9349-MONDO_0019187-HP_0000006-GENCC_100004"	"HGNC:9349"	"PRDM5"	"MONDO:0019187"	"Axenfeld-Rieger syndrome"	"MONDO:0019187"	"Axenfeld-Rieger syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9349"	"PRDM5"	"MONDO:0019187"	"PRDM5-related Axenfeld-Rieger syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3023"	""	"26489929"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203023"	"2025-01-17"
"GENCC_000112-HGNC_9354-MONDO_0000437-HP_0000007-GENCC_100003"	"HGNC:9354"	"PRDX3"	"MONDO:0000437"	"cerebellar ataxia"	"MONDO:0000437"	"cerebellar ataxia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9354"	"PRDX3"	"MONDO:0000437"	"PRDX3-associated cerebellar ataxia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4926"	""	"35766882"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204926"	"2025-01-17"
"GENCC_000112-HGNC_9454-MONDO_0020242-HP_0000006-GENCC_100001"	"HGNC:9454"	"PROM1"	"MONDO:0020242"	"hereditary macular dystrophy"	"MONDO:0020242"	"hereditary macular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9454"	"PROM1"	"MONDO:0020242"	"PROM1-related Macular dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3109"	""	"20393116;28840994;18654668;28095140"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203109"	"2025-01-17"
"GENCC_000112-HGNC_20291-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:20291"	"PROSER1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20291"	"PROSER1"	"MONDO:0700092"	"PROSER1-related developmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-11-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4965"	""	"35229282"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204965"	"2025-01-17"
"GENCC_000112-HGNC_17896-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:17896"	"PRPF19"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17896"	"PRPF19"	"MONDO:0700092"	"PRPF19-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-05-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5161"	""	"37962958"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205161"	"2025-01-17"
"GENCC_000112-HGNC_17340-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:17340"	"PRPF8"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17340"	"PRPF8"	"MONDO:0700092"	"PRPF8-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4395"	""	"35543142;33057194;29847639"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204395"	"2025-01-17"
"GENCC_000112-HGNC_17340-MONDO_0005041-HP_0000006-GENCC_100004"	"HGNC:17340"	"PRPF8"	"MONDO:0005041"	"glaucoma"	"MONDO:0005041"	"glaucoma"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17340"	"PRPF8"	"MONDO:0005041"	"PRPF8-related Glaucoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3116"	""	"28707069"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203116"	"2025-01-17"
"GENCC_000112-HGNC_9942-MONDO_0020242-HP_0000006-GENCC_100001"	"HGNC:9942"	"PRPH2"	"MONDO:0020242"	"hereditary macular dystrophy"	"MONDO:0020242"	"hereditary macular dystrophy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9942"	"PRPH2"	"MONDO:0020242"	"PRPH2-related Macular dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3124"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203124"	"2025-01-17"
"GENCC_000112-HGNC_9462-MONDO_0044314-HP_0001417-GENCC_100001"	"HGNC:9462"	"PRPS1"	"MONDO:0044314"	"retinitis pigmentosa 78"	"MONDO:0044314"	"retinitis pigmentosa 78"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:9462"	"PRPS1"	"MONDO:0044314"	"PRPS1-related Retinal dystrophy"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-11-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3645"	""	"25491489;28967191"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203645"	"2025-01-17"
"GENCC_000112-HGNC_9142-MONDO_0015469-HP_0000006-GENCC_100003"	"HGNC:9142"	"PRRX1"	"MONDO:0015469"	"craniosynostosis"	"MONDO:0015469"	"craniosynostosis"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9142"	"PRRX1"	"MONDO:0015469"	"PRRX1-related craniosynostosis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2018-11-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3962"	""	"37154149"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203962"	"2025-01-17"
"GENCC_000112-HGNC_9547-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:9547"	"PSMC1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9547"	"PSMC1"	"MONDO:0700092"	"PSMC1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-10-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4921"	""	"35861243"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204921"	"2025-01-17"
"GENCC_000112-HGNC_9549-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:9549"	"PSMC3"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9549"	"PSMC3"	"MONDO:0700092"	"PSMC3-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-12-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5097"	""	"37256937"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205097"	"2025-01-17"
"GENCC_000112-HGNC_9552-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:9552"	"PSMC5"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9552"	"PSMC5"	"MONDO:0700092"	"PSMC5-related developmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2019-11-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4429"	""	"33057194"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204429"	"2025-01-17"
"GENCC_000112-HGNC_9580-MONDO_0011462-HP_0000006-GENCC_100001"	"HGNC:9580"	"PSTPIP1"	"MONDO:0011462"	"pyogenic arthritis-pyoderma gangrenosum-acne syndrome"	"MONDO:0011462"	"pyogenic arthritis-pyoderma gangrenosum-acne syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9580"	"PSTPIP1"	"MONDO:0011462"	"PSTPIP1-related Pyogenic sterile arthritis, pyoderma gangrenosum and acne"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4226"	""	"11971877"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204226"	"2025-01-17"
"GENCC_000112-HGNC_23734-MONDO_0009832-HP_0000007-GENCC_100001"	"HGNC:23734"	"PTF1A"	"MONDO:0009832"	"pancreatic agenesis"	"MONDO:0009832"	"pancreatic agenesis"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23734"	"PTF1A"	"MONDO:0009832"	"PTF1A-related PANCREATIC AGENESIS"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1440"	""	"24212882"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201440"	"2025-01-17"
"GENCC_000112-HGNC_9670-MONDO_0015855-HP_0000007-GENCC_100004"	"HGNC:9670"	"PTPRF"	"MONDO:0015855"	"isolated congenital breast hypoplasia/aplasia"	"MONDO:0015855"	"isolated congenital breast hypoplasia/aplasia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9670"	"PTPRF"	"MONDO:0015855"	"PTPRF-related ATHELIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=425"	""	"24781087"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200425"	"2025-01-17"
"GENCC_000112-HGNC_9701-OMIM_616158-HP_0000006-GENCC_100001"	"HGNC:9701"	"PURA"	"MONDO:0014512"	"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"	"OMIM:616158"	"Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9701"	"PURA"	"OMIM:616158"	"PURA-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=847"	""	"35094889;25439098;33352606;33229923;27148565;35211951;31911028;32089526;33633953;34790866;28486374;36210261;29150892;34933843;29097605;33117858;33750045;34631953;25342064;35440576;33275834;34583915;29307761"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200847"	"2025-01-17"
"GENCC_000112-HGNC_14966-MONDO_0010015-HP_0000007-GENCC_100002"	"HGNC:14966"	"PXDN"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"MONDO:0010015"	"anterior segment dysgenesis 7"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14966"	"PXDN"	"MONDO:0010015"	"PXDN-related anterior segment dysgenesis with sclerocornea"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=157"	""	"24939590;27409795;21907015"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200157"	"2025-01-17"
"GENCC_000112-HGNC_9721-OMIM_614438-HP_0000007-GENCC_100002"	"HGNC:9721"	"PYCR1"	"MONDO:0013755"	"PYCR1-related de Barsy syndrome"	"OMIM:614438"	"Cutis laxa, autosomal recessive, type IIIB"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9721"	"PYCR1"	"OMIM:614438"	"PYCR1-related Cutis laxa, autosomal recessive, type IIIB (de Barsy syndrome)"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5226"	""	"19648921"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205226"	"2025-01-17"
"GENCC_000112-HGNC_21100-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:21100"	"QKI"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:21100"	"QKI"	"MONDO:0001071"	"QKI-related intellectual disability "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=505"	""	"20082458"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200505"	"2025-01-17"
"GENCC_000112-HGNC_9760-MONDO_0030922-HP_0000006-GENCC_100002"	"HGNC:9760"	"RAB11A"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9760"	"RAB11A"	"MONDO:0030922"	"RAB11A-related Epilepsy and intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3660"	""	"29100083"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203660"	"2025-01-17"
"GENCC_000112-HGNC_9761-OMIM_617807-HP_0000006-GENCC_100002"	"HGNC:9761"	"RAB11B"	"MONDO:0060624"	"neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"OMIM:617807"	"Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9761"	"RAB11B"	"OMIM:617807"	"RAB11B-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2516"	""	"29106825"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202516"	"2025-01-17"
"GENCC_000112-HGNC_9801-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:9801"	"RAC1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9801"	"RAC1"	"MONDO:0700092"	"RAC1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3650"	""	"28886345;35139179"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203650"	"2025-01-17"
"GENCC_000112-HGNC_9831-MONDO_0011338-HP_0000007-GENCC_100001"	"HGNC:9831"	"RAG1"	"MONDO:0011338"	"Omenn syndrome"	"MONDO:0011338"	"Omenn syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9831"	"RAG1"	"MONDO:0011338"	"RAG1-related Omenn syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4161"	""	"9630231"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204161"	"2025-01-17"
"GENCC_000112-HGNC_9832-MONDO_0011338-HP_0000007-GENCC_100001"	"HGNC:9832"	"RAG2"	"MONDO:0011338"	"Omenn syndrome"	"MONDO:0011338"	"Omenn syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9832"	"RAG2"	"MONDO:0011338"	"RAG2-related Omenn syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4162"	""	"9630231"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204162"	"2025-01-17"
"GENCC_000112-HGNC_17770-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:17770"	"RALGAPA1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17770"	"RALGAPA1"	"MONDO:0700092"	"RALGAPA1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-02-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4463"	""	"32004447"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204463"	"2025-01-17"
"GENCC_000112-HGNC_18662-MONDO_0001476-HP_0000007-GENCC_100004"	"HGNC:18662"	"RAX"	"MONDO:0001476"	"coloboma"	"MONDO:0001476"	"coloboma"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18662"	"RAX"	"MONDO:0001476"	"RAX-related Ocular coloboma"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-09-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3593"	""	"28831107"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203593"	"2025-01-17"
"GENCC_000112-HGNC_18286-MONDO_0019200-HP_0000007-GENCC_100001"	"HGNC:18286"	"RAX2"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:18286"	"RAX2"	"MONDO:0019200"	"RAX2-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-10-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4351"	""	"30377383"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204351"	"2025-01-17"
"GENCC_000112-HGNC_18222-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:18222"	"RBFOX1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18222"	"RBFOX1"	"MONDO:0700092"	"RBFOX1-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-08-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4579"	""	"26185613;26749308"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204579"	"2025-01-17"
"GENCC_000112-HGNC_9922-MONDO_0000170-HP_0000006-GENCC_100002"	"HGNC:9922"	"RBP4"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9922"	"RBP4"	"MONDO:0000170"	"RBP4-related Microphthalmia, isolated, with coloboma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-04-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2416"	""	"25910211"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202416"	"2025-01-17"
"GENCC_000112-HGNC_18243-Orphanet_891-HP_0000006-GENCC_100004"	"HGNC:18243"	"RCBTB1"	"MONDO:0019516"	"exudative vitreoretinopathy"	"Orphanet:891"	"Orphanet:891"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18243"	"RCBTB1"	"Orphanet:891"	"RCBTB1-related Familial exudative vitreoretinopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-06-11 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2560"	""	"26908610"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202560"	"2025-01-17"
"GENCC_000112-HGNC_9940-MONDO_0007639-HP_0000007-GENCC_100001"	"HGNC:9940"	"RDH5"	"MONDO:0007639"	"fundus albipunctatus"	"MONDO:0007639"	"fundus albipunctatus"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9940"	"RDH5"	"MONDO:0007639"	"RDH5-related Fundus albipunctatus"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3144"	""	"10617778;10369264;25820994"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203144"	"2025-01-17"
"GENCC_000112-HGNC_30078-MONDO_0019200-HP_0000007-GENCC_100001"	"HGNC:30078"	"REEP6"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30078"	"REEP6"	"MONDO:0019200"	"REEP6-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2403"	""	"28369466;27889058;29120066"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202403"	"2025-01-17"
"GENCC_000112-HGNC_9966-MONDO_0024676-HP_0000006-GENCC_100003"	"HGNC:9966"	"REST"	"MONDO:0024676"	"childhood kidney Wilms tumor"	"MONDO:0024676"	"childhood kidney Wilms tumor"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9966"	"REST"	"MONDO:0024676"	"REST-related Wilms tumour"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4940"	""	"26551668"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204940"	"2025-01-17"
"GENCC_000112-HGNC_9967-Orphanet_1332-HP_0000006-GENCC_100001"	"HGNC:9967"	"RET"	"MONDO:0015277"	"medullary thyroid gland carcinoma"	"Orphanet:1332"	"Orphanet:1332"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9967"	"RET"	"Orphanet:1332"	"RET-related MEDULLARY THYROID CARCINOMA"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2257"	""	"9506724;11454140;7915165;8099202;7906866;3697657;10323403;9111992;14602786;15240641"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202257"	"2025-01-17"
"GENCC_000112-HGNC_9967-MONDO_0018470-HP_0000007-GENCC_100004"	"HGNC:9967"	"RET"	"MONDO:0018470"	"renal agenesis"	"MONDO:0018470"	"renal agenesis"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:9967"	"RET"	"MONDO:0018470"	"RET-related RENAL AGENESIS"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-09-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=528"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200528"	"2025-01-17"
"GENCC_000112-HGNC_9967-MONDO_0008233-HP_0000006-GENCC_100001"	"HGNC:9967"	"RET"	"MONDO:0008233"	"pheochromocytoma"	"MONDO:0008233"	"pheochromocytoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9967"	"RET"	"MONDO:0008233"	"RET-related Pheochromocytoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4220"	""	"8825918"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204220"	"2025-01-17"
"GENCC_000112-HGNC_9968-Orphanet_570-HP_0000006-GENCC_100004"	"HGNC:9968"	"REV3L"	"MONDO:0008006"	"Mobius syndrome"	"Orphanet:570"	"Orphanet:570"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9968"	"REV3L"	"Orphanet:570"	"REV3L-related MOEBIUS SYNDROME"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3072"	""	"26068067"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203072"	"2025-01-17"
"GENCC_000112-HGNC_10012-OMIM_613731-HP_0000007-GENCC_100001"	"HGNC:10012"	"RHO"	"MONDO:0013395"	"retinitis pigmentosa 4"	"OMIM:613731"	"Retinitis pigmentosa 4, autosomal dominant or recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10012"	"RHO"	"OMIM:613731"	"RHO-related retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-05-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2484"	""	"32423767;7987385;21174529;1303237;19960070;26887858;21217109;31319082"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202484"	"2025-01-17"
"GENCC_000112-HGNC_18756-OMIM_618004-HP_0000006-GENCC_100002"	"HGNC:18756"	"RHOBTB2"	"MONDO:0033373"	"developmental and epileptic encephalopathy, 64"	"OMIM:618004"	"Developmental and epileptic encephalopathy 64"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18756"	"RHOBTB2"	"OMIM:618004"	"RHOBTB2-related developmental and epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-12 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4007"	""	"29276004"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204007"	"2025-01-17"
"GENCC_000112-HGNC_686-OMIM_618307-HP_0000007-GENCC_100004"	"HGNC:686"	"RHOH"	"MONDO:0032666"	"epidermodysplasia verruciformis, susceptibility to, 4"	"OMIM:618307"	"Immunodeficiency 129"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:686"	"RHOH"	"OMIM:618307"	"RHOH-related Epidermodysplasia verruciformis, susceptibility to, 4"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5234"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205234"	"2025-01-17"
"GENCC_000112-HGNC_13429-OMIM_300978-HP_0001417-GENCC_100002"	"HGNC:13429"	"RLIM"	"MONDO:0010506"	"intellectual disability, X-linked 61"	"OMIM:300978"	"Tonne-Kalscheuer syndrome"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:13429"	"RLIM"	"OMIM:300978"	"RLIM-related intellectual disability"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2574"	""	"25644381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202574"	"2025-01-17"
"GENCC_000112-HGNC_25641-MONDO_0005129-HP_0000007-GENCC_100004"	"HGNC:25641"	"RNLS"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25641"	"RNLS"	"MONDO:0005129"	"RNLS-related Congenital cataract"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-09-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3573"	""	"22935719"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203573"	"2025-01-17"
"GENCC_000112-HGNC_10193-OMIM_620851-HP_0000006-GENCC_100002"	"HGNC:10193"	"RNU4-2"	"MONDO:0971172"	"neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language"	"OMIM:620851"	"ReNU syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10193"	"RNU4-2"	"OMIM:620851"	"RNU4-2 related neurodevelopmental disorder with microcephaly and seizures"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2024-06-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5162"	""	"38991538;38821540"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205162"	"2025-01-17"
"GENCC_000112-HGNC_10258-OMIM_618060-HP_0000006-GENCC_100002"	"HGNC:10258"	"RORA"	"MONDO:0060745"	"intellectual developmental disorder with or without epilepsy or cerebellar ataxia"	"OMIM:618060"	"Intellectual developmental disorder with or without epilepsy or cerebellar ataxia"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10258"	"RORA"	"OMIM:618060"	"RORA-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-06-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3779"	""	"29656859"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203779"	"2025-01-17"
"GENCC_000112-HGNC_15946-MONDO_0000455-HP_0000007-GENCC_100004"	"HGNC:15946"	"RP1L1"	"MONDO:0000455"	"cone dystrophy"	"MONDO:0000455"	"cone dystrophy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15946"	"RP1L1"	"MONDO:0000455"	"RP1L1-related Cone dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-09-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3577"	""	"25692141"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203577"	"2025-01-17"
"GENCC_000112-HGNC_15946-MONDO_0019200-HP_0000007-GENCC_100001"	"HGNC:15946"	"RP1L1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15946"	"RP1L1"	"MONDO:0019200"	"RP1L1-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-09-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3578"	""	"30025130;31213501;23281133;25324289"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203578"	"2025-01-17"
"GENCC_000112-HGNC_10294-MONDO_0019200-HP_0000007-GENCC_100001"	"HGNC:10294"	"RPE65"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10294"	"RPE65"	"MONDO:0019200"	"RPE65-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2428"	""	"9326941;9501220;20811047;11786058;9801879"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202428"	"2025-01-17"
"GENCC_000112-HGNC_10313-OMIM_615885-HP_0000006-GENCC_100002"	"HGNC:10313"	"RPL21"	"MONDO:0014384"	"hypotrichosis 12"	"OMIM:615885"	"Hypotrichosis 12"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10313"	"RPL21"	"OMIM:615885"	"RPL21-related Hypotrichosis 12"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5227"	""	"21412954"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205227"	"2025-01-17"
"GENCC_000112-HGNC_16963-MONDO_0005129-HP_0000006-GENCC_100002"	"HGNC:16963"	"RRAGA"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16963"	"RRAGA"	"MONDO:0005129"	"RRAGA-related Cataract"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-09-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3591"	""	"27294265"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203591"	"2025-01-17"
"GENCC_000112-HGNC_10457-MONDO_0004579-HP_0001417-GENCC_100001"	"HGNC:10457"	"RS1"	"MONDO:0004579"	"retinoschisis"	"MONDO:0004579"	"retinoschisis"	"GENCC:100001"	"Definitive"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:10457"	"RS1"	"MONDO:0004579"	"RS1-related Retinoschisis"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2402"	""	"10234514;22245991;9618178;9326935;2080952;22245536"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202402"	"2025-01-17"
"GENCC_000112-HGNC_24152-MONDO_0032729-HP_0000007-GENCC_100001"	"HGNC:24152"	"RSRC1"	"MONDO:0032729"	"intellectual developmental disorder, autosomal recessive 70"	"MONDO:0032729"	"intellectual developmental disorder, autosomal recessive 70"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:24152"	"RSRC1"	"MONDO:0032729"	"RSRC1-related INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-04-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4486"	""	"32227164;29522154;28640246"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204486"	"2025-01-17"
"GENCC_000112-HGNC_15888-MONDO_0009136-HP_0000006-GENCC_100003"	"HGNC:15888"	"RTEL1"	"MONDO:0009136"	"dyskeratosis congenita, autosomal recessive 1"	"MONDO:0009136"	"dyskeratosis congenita, autosomal recessive 1"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15888"	"RTEL1"	"MONDO:0009136"	"RTEL1-related dyskeratosis congenita"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4946"	""	"23329068;23453664"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204946"	"2025-01-17"
"GENCC_000112-HGNC_15888-MONDO_0009136-HP_0000007-GENCC_100001"	"HGNC:15888"	"RTEL1"	"MONDO:0009136"	"dyskeratosis congenita, autosomal recessive 1"	"MONDO:0009136"	"dyskeratosis congenita, autosomal recessive 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15888"	"RTEL1"	"MONDO:0009136"	"RTEL1-related dyskeratosis congenita"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-11-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4977"	""	"23591994;23329068;23959892;23453664"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204977"	"2025-01-17"
"GENCC_000112-HGNC_10484-MONDO_0017990-HP_0000006-GENCC_100001"	"HGNC:10484"	"RYR2"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"MONDO:0017990"	"catecholaminergic polymorphic ventricular tachycardia"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10484"	"RYR2"	"MONDO:0017990"	"RYR2-related CPVT"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-05-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4896"	""	"31112425;30696458;11208676;24394973;17081562;12093772;17875969;29453246;19216760;23479668;26018045"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204896"	"2025-01-17"
"GENCC_000112-HGNC_10485-MONDO_0100062-HP_0000006-GENCC_100004"	"HGNC:10485"	"RYR3"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"MONDO:0100062"	"developmental and epileptic encephalopathy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10485"	"RYR3"	"MONDO:0100062"	"RYR3-related EPILEPTIC ENCEPHALOPATHY"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1472"	""	"25262651"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201472"	"2025-01-17"
"GENCC_000112-HGNC_28706-MONDO_0019200-HP_0000007-GENCC_100002"	"HGNC:28706"	"SAMD11"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:28706"	"SAMD11"	"MONDO:0019200"	"SAMD11-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-09-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3597"	""	"27734943"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203597"	"2025-01-17"
"GENCC_000112-HGNC_19304-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:19304"	"SCAF4"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19304"	"SCAF4"	"MONDO:0700092"	"SCAF4-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4599"	""	"32730804;36333968"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204599"	"2025-01-17"
"GENCC_000112-HGNC_26406-MONDO_0019200-HP_0000007-GENCC_100004"	"HGNC:26406"	"SCLT1"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26406"	"SCLT1"	"MONDO:0019200"	"SCLT1-related Retinitis pigmentosa"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-09-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3602"	""	"28005958"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203602"	"2025-01-17"
"GENCC_000112-HGNC_10588-MONDO_0014625-HP_0000006-GENCC_100001"	"HGNC:10588"	"SCN2A"	"MONDO:0014625"	"developmental and epileptic encephalopathy, 33"	"MONDO:0014625"	"developmental and epileptic encephalopathy, 33"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10588"	"SCN2A"	"MONDO:0014625"	"SCN2A-related INFANTILE EPILEPTIC ENCEPHALOPATHY"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-01-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2100"	""	"29996185;19783390;25772804;23988467;20236112;28379373;25459969;16417554;30165711;27876397;22591750;24659627;27781028;27159988;29625812;15028761;31966371;23827426;26645390;31439038;28065826;31204721;26291284;28489313;29635106;30361185;25457084;30381472;29844171;23935176;24579881;30062040;29649454;20956790;28254201;28709814;30144217;27867041;27328862;24814476;23758435;17386050;26311622;15301839;30415926;24710820;30203812;23550958;19786696"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202100"	"2025-01-17"
"GENCC_000112-HGNC_10590-MONDO_0005384-HP_0000006-GENCC_100002"	"HGNC:10590"	"SCN3A"	"MONDO:0005384"	"focal epilepsy"	"MONDO:0005384"	"focal epilepsy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10590"	"SCN3A"	"MONDO:0005384"	"SCN3A-related Focal epilepsy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-12-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2028"	""	"24157691;18242854"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202028"	"2025-01-17"
"GENCC_000112-HGNC_10593-MONDO_0011003-HP_0000006-GENCC_100001"	"HGNC:10593"	"SCN5A"	"MONDO:0011003"	"dilated cardiomyopathy 1E"	"MONDO:0011003"	"dilated cardiomyopathy 1E"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10593"	"SCN5A"	"MONDO:0011003"	"SCN5A-related DCM"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2024-03-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5135"	""	"15671429;27532257;26916278;15466643;19808398;21596231;22675453;22999724;30847666"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205135"	"2025-01-17"
"GENCC_000112-HGNC_23136-MONDO_0015375-HP_0000007-GENCC_100004"	"HGNC:23136"	"SCNM1"	"MONDO:0015375"	"orofaciodigital syndrome"	"MONDO:0015375"	"orofaciodigital syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23136"	"SCNM1"	"MONDO:0015375"	"SCNM1-associated orofaciodigital syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4993"	""	"36084634"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204993"	"2025-01-17"
"GENCC_000112-HGNC_10680-MONDO_0013602-HP_0000006-GENCC_100001"	"HGNC:10680"	"SDHA"	"MONDO:0013602"	"paragangliomas 5"	"MONDO:0013602"	"paragangliomas 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10680"	"SDHA"	"MONDO:0013602"	"SDHA-related PARAGANGLIOMAS"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2311"	""	"26273102"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202311"	"2025-01-17"
"GENCC_000112-HGNC_10681-OMIM_606864-HP_0000006-GENCC_100001"	"HGNC:10681"	"SDHB"	"MONDO:0011740"	"Carney-Stratakis syndrome"	"OMIM:606864"	"Paraganglioma and gastric stromal sarcoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10681"	"SDHB"	"OMIM:606864"	"SDHB-related PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2266"	""	"15383933;17804857"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202266"	"2025-01-17"
"GENCC_000112-HGNC_10681-MONDO_0008233-HP_0000006-GENCC_100001"	"HGNC:10681"	"SDHB"	"MONDO:0008233"	"pheochromocytoma"	"MONDO:0008233"	"pheochromocytoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10681"	"SDHB"	"MONDO:0008233"	"SDHB-related Pheochromocytoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4222"	""	"11404820;12000816"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204222"	"2025-01-17"
"GENCC_000112-HGNC_10683-MONDO_0008192-HP_0000006-GENCC_100001"	"HGNC:10683"	"SDHD"	"MONDO:0008192"	"paragangliomas 1"	"MONDO:0008192"	"paragangliomas 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10683"	"SDHD"	"MONDO:0008192"	"SDHD-related PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2269"	""	"15531530;12111639;10657297;11391796;11343322;15032977;11323050;18678321;11391798;15066320;11605159;11156372"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202269"	"2025-01-17"
"GENCC_000112-HGNC_10683-MONDO_0005814-HP_0000006-GENCC_100004"	"HGNC:10683"	"SDHD"	"MONDO:0005814"	"intestinal cancer"	"MONDO:0005814"	"intestinal cancer"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10683"	"SDHD"	"MONDO:0005814"	"SDHD-related CARCINOID TUMORS, INTESTINAL"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-09-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2268"	""	"12007193"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202268"	"2025-01-17"
"GENCC_000112-HGNC_10683-MONDO_0008233-HP_0000006-GENCC_100001"	"HGNC:10683"	"SDHD"	"MONDO:0008233"	"pheochromocytoma"	"MONDO:0008233"	"pheochromocytoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10683"	"SDHD"	"MONDO:0008233"	"SDHD-related Pheochromocytoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4221"	""	"11156372"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204221"	"2025-01-17"
"GENCC_000112-HGNC_29958-OMIM_617574-HP_0000007-GENCC_100003"	"HGNC:29958"	"SDR9C7"	"MONDO:0033092"	"ichthyosis, congenital, autosomal recessive 13"	"OMIM:617574"	"Ichthyosis, congenital, autosomal recessive 13"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29958"	"SDR9C7"	"OMIM:617574"	"SDR9C7-related Ichthyosis, congenital, autosomal recessive 13"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5262"	""	"28173123"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205262"	"2025-01-17"
"GENCC_000112-HGNC_10702-Orphanet_201-HP_0000006-GENCC_100004"	"HGNC:10702"	"SEC23B"	"MONDO:0016063"	"Cowden disease"	"Orphanet:201"	"Orphanet:201"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10702"	"SEC23B"	"Orphanet:201"	"SEC23B-related Cowden syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4939"	""	"26522472"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204939"	"2025-01-17"
"GENCC_000112-HGNC_15999-MONDO_0100100-HP_0000007-GENCC_100001"	"HGNC:15999"	"SELENON"	"MONDO:0100100"	"SELENON-related myopathy"	"MONDO:0100100"	"SELENON-related myopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15999"	"SELENON"	"MONDO:0100100"	"SELENON-related myopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4528"	""	"11528383;28558865;32154989;29172004;15961312;25808192;28688748;29850975;15792869;21670436;31066047;26841830;30642275;17951086;23394784;26780752;28606403;15668457;16498447;12192640;20937510"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204528"	"2025-01-17"
"GENCC_000112-HGNC_10723-MONDO_0018230-HP_0000007-GENCC_100001"	"HGNC:10723"	"SEMA3A"	"MONDO:0018230"	"skeletal dysplasia"	"MONDO:0018230"	"skeletal dysplasia"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10723"	"SEMA3A"	"MONDO:0018230"	"SEMA3A-related skeletal dysplasia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2021-02-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4684"	""	"24124006;33369061;28075028"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204684"	"2025-01-17"
"GENCC_000112-HGNC_13902-OMIM_615598-HP_0000007-GENCC_100001"	"HGNC:13902"	"SERPINB7"	"MONDO:0014272"	"palmoplantar keratoderma, Nagashima type"	"OMIM:615598"	"Palmoplantar keratoderma, Nagashima type"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13902"	"SERPINB7"	"OMIM:615598"	"SERPINB7-related Palmoplantar keratoderma, Nagashima type"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5243"	""	"34616427;33362511"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205243"	"2025-01-17"
"GENCC_000112-HGNC_8952-OMIM_617115-HP_0000007-GENCC_100004"	"HGNC:8952"	"SERPINB8"	"MONDO:0014923"	"peeling skin syndrome 5"	"OMIM:617115"	"Peeling skin syndrome 5"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:8952"	"SERPINB8"	"OMIM:617115"	"SERPINB8-related Peeling skin syndrome 5"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5260"	""	"27476651"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205260"	"2025-01-17"
"GENCC_000112-HGNC_29010-OMIM_619056-HP_0000006-GENCC_100002"	"HGNC:29010"	"SETD1A"	"MONDO:0033630"	"neurodevelopmental disorder with speech impairment and dysmorphic facies"	"OMIM:619056"	"Neurodevelopmental disorder with speech impairment and dysmorphic facies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29010"	"SETD1A"	"OMIM:619056"	"SETD1A-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2346"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202346"	"2025-01-17"
"GENCC_000112-HGNC_18420-MONDO_0014791-HP_0000006-GENCC_100002"	"HGNC:18420"	"SETD2"	"MONDO:0014791"	"Luscan-Lumish syndrome"	"MONDO:0014791"	"Luscan-Lumish syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18420"	"SETD2"	"MONDO:0014791"	"SETD2-associated Overgrowth Syndrome (Luscan-Lumish syndrome)"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-04-14 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3744"	""	"24852293;27317772"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203744"	"2025-01-17"
"GENCC_000112-HGNC_18420-MONDO_0859331-HP_0000006-GENCC_100003"	"HGNC:18420"	"SETD2"	"MONDO:0859331"	"Rabin-Pappas syndrome"	"MONDO:0859331"	"Rabin-Pappas syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18420"	"SETD2"	"MONDO:0859331"	"SETD2-related Rabin-Pappas syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-03-02 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5015"	""	"32710489;34978780"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205015"	"2025-01-17"
"GENCC_000112-HGNC_10820-MONDO_0024551-HP_0001417-GENCC_100002"	"HGNC:10820"	"SH2D1A"	"MONDO:0024551"	"X-linked lymphoproliferative disease due to SH2D1A deficiency"	"MONDO:0024551"	"X-linked lymphoproliferative disease due to SH2D1A deficiency"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:10820"	"SH2D1A"	"MONDO:0024551"	"SH2D1A-related Lymphoproliferative syndrome, X-linked"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4933"	""	"20926771"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204933"	"2025-01-17"
"GENCC_000112-HGNC_30422-MONDO_0018075-HP_0000006-GENCC_100002"	"HGNC:30422"	"SHROOM3"	"MONDO:0018075"	"neural tube defect"	"MONDO:0018075"	"neural tube defect"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:30422"	"SHROOM3"	"MONDO:0018075"	"SHROOM3-related NEURAL TUBE DEFECT"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=394"	""	"25805808"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200394"	"2025-01-17"
"GENCC_000112-HGNC_10857-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:10857"	"SIAH1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10857"	"SIAH1"	"MONDO:0700092"	"SIAH1-associated neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-06-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4497"	""	"32430360"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204497"	"2025-01-17"
"GENCC_000112-HGNC_10892-OMIM_212550-HP_0000007-GENCC_100002"	"HGNC:10892"	"SIX6"	"MONDO:0008927"	"colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"	"OMIM:212550"	"Optic disc anomalies with retinal and/or macular dystrophy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10892"	"SIX6"	"OMIM:212550"	"SIX6-related MAC spectrum"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3255"	""	"24702266;23167593"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203255"	"2025-01-17"
"GENCC_000112-HGNC_13818-MONDO_0100025-HP_0000007-GENCC_100002"	"HGNC:13818"	"SLC12A5"	"MONDO:0100025"	"epilepsy of infancy with migrating focal seizures"	"MONDO:0100025"	"epilepsy of infancy with migrating focal seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13818"	"SLC12A5"	"MONDO:0100025"	"SLC12A5-related epilepsy of infancy with migrating focal seizures"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=849"	""	"27436767;28477354;26333769"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200849"	"2025-01-17"
"GENCC_000112-HGNC_23094-MONDO_0012786-HP_0000006-GENCC_100004"	"HGNC:23094"	"SLC16A12"	"MONDO:0012786"	"juvenile cataract-microcornea-renal glucosuria syndrome"	"MONDO:0012786"	"juvenile cataract-microcornea-renal glucosuria syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:23094"	"SLC16A12"	"MONDO:0012786"	"SLC16A12-related Cataract 47, juvenile, with microcornea"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3253"	""	"18304496"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203253"	"2025-01-17"
"GENCC_000112-HGNC_10940-OMIM_617105-HP_0000006-GENCC_100002"	"HGNC:10940"	"SLC1A2"	"MONDO:0014916"	"developmental and epileptic encephalopathy, 41"	"OMIM:617105"	"Developmental and epileptic encephalopathy 41"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10940"	"SLC1A2"	"OMIM:617105"	"SLC1A2-related epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2348"	""	"28777935;27476654"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202348"	"2025-01-17"
"GENCC_000112-HGNC_10978-MONDO_0007538-HP_0000007-GENCC_100002"	"HGNC:10978"	"SLC24A4"	"MONDO:0007538"	"amelogenesis imperfecta, type 3A"	"MONDO:0007538"	"amelogenesis imperfecta, type 3A"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10978"	"SLC24A4"	"MONDO:0007538"	"SLC24A4-related AMELOGENESIS IMPERFECTA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=180"	""	"23375655"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200180"	"2025-01-17"
"GENCC_000112-HGNC_10990-MONDO_0044970-HP_0000006-GENCC_100002"	"HGNC:10990"	"SLC25A4"	"MONDO:0044970"	"mitochondrial disease"	"MONDO:0044970"	"mitochondrial disease"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10990"	"SLC25A4"	"MONDO:0044970"	"SLC25A4-related Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2363"	""	"30046662;27693233"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202363"	"2025-01-17"
"GENCC_000112-HGNC_10990-MONDO_0012853-HP_0000006-GENCC_100002"	"HGNC:10990"	"SLC25A4"	"MONDO:0012853"	"Fontaine progeroid syndrome"	"MONDO:0012853"	"Fontaine progeroid syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:10990"	"SLC25A4"	"MONDO:0012853"	"SLC25A4-related Fontaine progeroid syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-11-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3982"	""	"30329211"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203982"	"2025-01-17"
"GENCC_000112-HGNC_19306-MONDO_0018772-HP_0000006-GENCC_100004"	"HGNC:19306"	"SLC30A7"	"MONDO:0018772"	"Joubert syndrome"	"MONDO:0018772"	"Joubert syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19306"	"SLC30A7"	"MONDO:0018772"	"SLC30A7-associated Joubert syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-03-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5016"	""	"35751429"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205016"	"2025-01-17"
"GENCC_000112-HGNC_11018-OMIM_620774-HP_0000006-GENCC_100003"	"HGNC:11018"	"SLC32A1"	"MONDO:0958331"	"developmental and epileptic encephalopathy 114"	"OMIM:620774"	"Developmental and epileptic encephalopathy 114"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11018"	"SLC32A1"	"OMIM:620774"	"SLC32A1-associated developmental and epileptic encephalopathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-08-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4915"	""	"36073542;34038384"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204915"	"2025-01-17"
"GENCC_000112-HGNC_17939-MONDO_0044322-HP_0000007-GENCC_100002"	"HGNC:17939"	"SLC45A1"	"MONDO:0044322"	"intellectual developmental disorder with neuropsychiatric features"	"MONDO:0044322"	"intellectual developmental disorder with neuropsychiatric features"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17939"	"SLC45A1"	"MONDO:0044322"	"SLC45A1-related Intellectual disability and epilepsy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3100"	""	"28434495"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203100"	"2025-01-17"
"GENCC_000112-HGNC_13811-OMIM_620746-HP_0000007-GENCC_100003"	"HGNC:13811"	"SLC4A10"	"MONDO:0958278"	"neurodevelopmental disorder with hypotonia and characteristic brain abnormalities"	"OMIM:620746"	"Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:13811"	"SLC4A10"	"OMIM:620746"	"SLC4A10-related neurodevelopmental disorder with hypotonia and characteristic brain abnormalities"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2024-10-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5198"	""	"38054405;31130284;37459438"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205198"	"2025-01-17"
"GENCC_000112-HGNC_11041-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:11041"	"SLC5A6"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11041"	"SLC5A6"	"MONDO:0700092"	"SLC5A6-related Neurodevelopmental Disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2020-02-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4468"	""	"31754459;35013551;27904971"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204468"	"2025-01-17"
"GENCC_000112-HGNC_14025-MONDO_0014939-HP_0000007-GENCC_100002"	"HGNC:14025"	"SLC5A7"	"MONDO:0014939"	"congenital myasthenic syndrome 20"	"MONDO:0014939"	"congenital myasthenic syndrome 20"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14025"	"SLC5A7"	"MONDO:0014939"	"SLC5A7-related Congenital Myasthenic Syndrome with Episodic Apnea"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-02-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2359"	""	"27569547"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202359"	"2025-01-17"
"GENCC_000112-HGNC_11042-MONDO_0016025-HP_0000006-GENCC_100001"	"HGNC:11042"	"SLC6A1"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"MONDO:0016025"	"myoclonic-astatic epilepsy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11042"	"SLC6A1"	"MONDO:0016025"	"SLC6A1-related EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=383"	""	"37700749;25865495;37457006;36966012;33961861;29961511;37662110;37647852;34006619;35761184;27600546;33241211;34028503;37877664;29315614;36582431;31176687;36895422;30132828;37502687;32398021;31516630;32660967"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200383"	"2025-01-17"
"GENCC_000112-HGNC_27960-MONDO_0009324-HP_0000007-GENCC_100001"	"HGNC:27960"	"SLC6A19"	"MONDO:0009324"	"Hartnup disease"	"MONDO:0009324"	"Hartnup disease"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:27960"	"SLC6A19"	"MONDO:0009324"	"SLC6A19-related Hartnup disease"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4142"	""	"15286787"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204142"	"2025-01-17"
"GENCC_000112-HGNC_10955-OMIM_614441-HP_0000007-GENCC_100001"	"HGNC:10955"	"SLCO2A1"	"MONDO:0013756"	"hypertrophic osteoarthropathy, primary, autosomal recessive, 2"	"OMIM:614441"	"PHOAR2-enteropathy syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:10955"	"SLCO2A1"	"OMIM:614441"	"SLCO2A1-related Hypertrophic osteoarthropathy, primary, autosomal recessive 2"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5231"	""	"33308032;24153155;33852188"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205231"	"2025-01-17"
"GENCC_000112-HGNC_20495-MONDO_0004675-HP_0000007-GENCC_100004"	"HGNC:20495"	"SLIRP"	"MONDO:0004675"	"mitochondrial encephalomyopathy"	"MONDO:0004675"	"mitochondrial encephalomyopathy"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:20495"	"SLIRP"	"MONDO:0004675"	"SLIRP-related mitochondrial encephalomyopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-01-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4818"	""	"34426662"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204818"	"2025-01-17"
"GENCC_000112-HGNC_6768-MONDO_0005453-HP_0000006-GENCC_100004"	"HGNC:6768"	"SMAD2"	"MONDO:0005453"	"congenital heart disease"	"MONDO:0005453"	"congenital heart disease"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6768"	"SMAD2"	"MONDO:0005453"	"SMAD2-related CONGENITAL HEART DISEASE"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1556"	""	"30157302;23665959"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201556"	"2025-01-17"
"GENCC_000112-HGNC_6772-Orphanet_139390-HP_0000006-GENCC_100004"	"HGNC:6772"	"SMAD6"	"MONDO:0015337"	"isolated craniosynostosis"	"Orphanet:139390"	"Orphanet:139390"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:6772"	"SMAD6"	"Orphanet:139390"	"SMAD6-related Non-syndromic craniosynostosis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2018-11-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3963"	""	"28808027;27606499"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203963"	"2025-01-17"
"GENCC_000112-HGNC_18398-OMIM_181600-HP_0000006-GENCC_100003"	"HGNC:18398"	"SMARCAD1"	"MONDO:0008416"	"palmoplantar keratoderma-sclerodactyly syndrome"	"OMIM:181600"	"Huriez syndrome"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:18398"	"SMARCAD1"	"OMIM:181600"	"SMARCAD1-related Huriez syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5275"	""	"29409814;33400266"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205275"	"2025-01-17"
"GENCC_000112-HGNC_11103-MONDO_0008075-HP_0000006-GENCC_100001"	"HGNC:11103"	"SMARCB1"	"MONDO:0008075"	"schwannomatosis"	"MONDO:0008075"	"schwannomatosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11103"	"SMARCB1"	"MONDO:0008075"	"SMARCB1-related SCHWANNOMATOSIS"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2016-11-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2309"	""	"9671307;10521299;10739763;25335493"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202309"	"2025-01-17"
"GENCC_000112-HGNC_11109-MONDO_0011789-HP_0000006-GENCC_100001"	"HGNC:11109"	"SMARCE1"	"MONDO:0011789"	"familial meningioma"	"MONDO:0011789"	"familial meningioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11109"	"SMARCE1"	"MONDO:0011789"	"SMARCE1-related Meningioma, familial"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4938"	""	"25143307"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204938"	"2025-01-17"
"GENCC_000112-HGNC_32949-OMIM_618622-HP_0000007-GENCC_100002"	"HGNC:32949"	"SMPD4"	"MONDO:0032838"	"neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	"OMIM:618622"	"Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:32949"	"SMPD4"	"OMIM:618622"	"SMPD4-related developmental disorder with microcephaly and arthrogryposis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-10-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4332"	""	"31495489"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204332"	"2025-01-17"
"GENCC_000112-HGNC_11094-MONDO_0008244-HP_0000006-GENCC_100001"	"HGNC:11094"	"SNAI2"	"MONDO:0008244"	"piebaldism"	"MONDO:0008244"	"piebaldism"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11094"	"SNAI2"	"MONDO:0008244"	"SNAI2-related Piebaldism"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4224"	""	"12955764"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204224"	"2025-01-17"
"GENCC_000112-HGNC_11132-MONDO_0030922-HP_0000006-GENCC_100001"	"HGNC:11132"	"SNAP25"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"MONDO:0030922"	"intellectual disability, autosomal dominant 56"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11132"	"SNAP25"	"MONDO:0030922"	"SNAP25-related Epilepsy and intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-11-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3662"	""	"33299146;29100083"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203662"	"2025-01-17"
"GENCC_000112-HGNC_11137-OMIM_620515-HP_0000007-GENCC_100003"	"HGNC:11137"	"SNAPC4"	"MONDO:0957791"	"neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction"	"OMIM:620515"	"Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11137"	"SNAPC4"	"OMIM:620515"	"SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-11-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5084"	""	"22222761;36965478"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205084"	"2025-01-17"
"GENCC_000112-HGNC_30859-MONDO_0044314-HP_0000007-GENCC_100002"	"HGNC:30859"	"SNRNP200"	"MONDO:0044314"	"retinitis pigmentosa 78"	"MONDO:0044314"	"retinitis pigmentosa 78"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30859"	"SNRNP200"	"MONDO:0044314"	"SNRNP200-related Retinal dystrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-01-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3672"	""	"29320387;23847139;31260034;27735924"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203672"	"2025-01-17"
"GENCC_000112-HGNC_11153-MONDO_0007301-HP_0000006-GENCC_100001"	"HGNC:11153"	"SNRPB"	"MONDO:0007301"	"cerebrocostomandibular syndrome"	"MONDO:0007301"	"cerebrocostomandibular syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11153"	"SNRPB"	"MONDO:0007301"	"SNRPB-related CEREBRO-COSTO-MANDIBULAR SYNDROME"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=703"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200703"	"2025-01-17"
"GENCC_000112-HGNC_11164-MONDO_0008300-HP_0000006-GENCC_100001"	"HGNC:11164"	"SNRPN"	"MONDO:0008300"	"Prader-Willi syndrome"	"MONDO:0008300"	"Prader-Willi syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11164"	"SNRPN"	"MONDO:0008300"	"SNRPN-related Prader-Willi syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4117"	""	"28554868;8723064"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204117"	"2025-01-17"
"GENCC_000112-HGNC_11204-MONDO_0009869-HP_0000006-GENCC_100001"	"HGNC:11204"	"SOX9"	"MONDO:0009869"	"isolated Pierre-Robin syndrome"	"MONDO:0009869"	"isolated Pierre-Robin syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11204"	"SOX9"	"MONDO:0009869"	"SOX9-related PIERRE ROBIN SEQUENCE"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=88"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200088"	"2025-01-17"
"GENCC_000112-HGNC_11237-OMIM_607259-HP_0000007-GENCC_100001"	"HGNC:11237"	"SPG7"	"MONDO:0011803"	"hereditary spastic paraplegia 7"	"OMIM:607259"	"Spastic paraplegia 7, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11237"	"SPG7"	"OMIM:607259"	"SPG7-related Spastic paraplegia 7, autosomal recessive"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-09-24 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3616"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203616"	"2025-01-17"
"GENCC_000112-HGNC_15464-MONDO_0009735-HP_0000007-GENCC_100001"	"HGNC:15464"	"SPINK5"	"MONDO:0009735"	"Netherton syndrome"	"MONDO:0009735"	"Netherton syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15464"	"SPINK5"	"MONDO:0009735"	"SPINK5-related Netherton syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4156"	""	"10835624"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204156"	"2025-01-17"
"GENCC_000112-HGNC_11247-MONDO_0034204-HP_0000007-GENCC_100001"	"HGNC:11247"	"SPINT2"	"MONDO:0034204"	"syndromic congenital sodium diarrhea"	"MONDO:0034204"	"syndromic congenital sodium diarrhea"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11247"	"SPINT2"	"MONDO:0034204"	"SPINT2-related Syndromic congenital sodium diarrhea"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-05-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3752"	""	"20009592;19185281"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203752"	"2025-01-17"
"GENCC_000112-HGNC_11256-MONDO_0019200-HP_0000006-GENCC_100004"	"HGNC:11256"	"SPP2"	"MONDO:0019200"	"retinitis pigmentosa"	"MONDO:0019200"	"retinitis pigmentosa"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11256"	"SPP2"	"MONDO:0019200"	"SPP2-related Retinitis pigmentosa"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3233"	""	"26459573"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203233"	"2025-01-17"
"GENCC_000112-HGNC_17722-MONDO_0018997-HP_0000007-GENCC_100002"	"HGNC:17722"	"SPRED2"	"MONDO:0018997"	"Noonan syndrome"	"MONDO:0018997"	"Noonan syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17722"	"SPRED2"	"MONDO:0018997"	"SPRED2-related Noonan syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-12-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4807"	""	"36608738;34626534"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204807"	"2025-01-17"
"GENCC_000112-HGNC_25356-MONDO_0015333-HP_0000007-GENCC_100004"	"HGNC:25356"	"SPRTN"	"MONDO:0015333"	"progeroid syndrome"	"MONDO:0015333"	"progeroid syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25356"	"SPRTN"	"MONDO:0015333"	"SPRTN-related PROGEROID SYNDROME"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1944"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201944"	"2025-01-17"
"GENCC_000112-HGNC_11276-MONDO_0014159-HP_0000007-GENCC_100001"	"HGNC:11276"	"SPTBN2"	"MONDO:0014159"	"autosomal recessive spinocerebellar ataxia 14"	"MONDO:0014159"	"autosomal recessive spinocerebellar ataxia 14"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11276"	"SPTBN2"	"MONDO:0014159"	"SPTBN2-related SCA14"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-03-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4025"	""	"29196973;28636205;23838597;23236289"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204025"	"2025-01-17"
"GENCC_000112-HGNC_11280-MONDO_0008176-HP_0000006-GENCC_100004"	"HGNC:11280"	"SQSTM1"	"MONDO:0008176"	"Paget disease of bone 3"	"MONDO:0008176"	"Paget disease of bone 3"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11280"	"SQSTM1"	"MONDO:0008176"	"SQSTM1-related Paget disease of bone"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4943"	""	"11992264;12374763"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204943"	"2025-01-17"
"GENCC_000112-HGNC_16974-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:16974"	"SRCAP"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16974"	"SRCAP"	"MONDO:0700092"	"SRCAP-related Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4733"	""	"34213696;33909990;37340855"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204733"	"2025-01-17"
"GENCC_000112-HGNC_11289-OMIM_158310-HP_0000006-GENCC_100003"	"HGNC:11289"	"SREBF1"	"MONDO:0008017"	"hereditary mucoepithelial dysplasia"	"OMIM:158310"	"Mucoepithelial dysplasia, hereditary"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11289"	"SREBF1"	"OMIM:158310"	"SREBF1-related Mucoepithelial dysplasia, hereditary"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5285"	""	"33253727;16086741"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205285"	"2025-01-17"
"GENCC_000112-HGNC_11362-OMIM_614162-HP_0000007-GENCC_100004"	"HGNC:11362"	"STAT1"	"MONDO:0013599"	"autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"	"OMIM:614162"	"Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11362"	"STAT1"	"OMIM:614162"	"STAT1-related Immunodeficiency 31C"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5228"	""	"27114460"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205228"	"2025-01-17"
"GENCC_000112-HGNC_16466-OMIM_620343-HP_0000006-GENCC_100002"	"HGNC:16466"	"SUFU"	"MONDO:0958189"	"basal cell nevus syndrome 2"	"OMIM:620343"	"Basal cell nevus syndrome 2"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16466"	"SUFU"	"OMIM:620343"	"SUFU-related Basal cell nevus syndrome 2 "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2024-12-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5221"	""	"10522671;26677003"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205221"	"2025-01-17"
"GENCC_000112-HGNC_11459-OMIM_617571-HP_0000007-GENCC_100002"	"HGNC:11459"	"SULT2B1"	"MONDO:0033091"	"ichthyosis, congenital, autosomal recessive 14"	"OMIM:617571"	"Ichthyosis, congenital, autosomal recessive 14"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11459"	"SULT2B1"	"OMIM:617571"	"SULT2B1-related Ichthyosis, congenital, autosomal recessive 14"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5270"	""	"28575648"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205270"	"2025-01-17"
"GENCC_000112-HGNC_11465-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:11465"	"SUPT16H"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11465"	"SUPT16H"	"MONDO:0700092"	"SUPT16H-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4566"	""	"31924697"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204566"	"2025-01-17"
"GENCC_000112-HGNC_11509-OMIM_618218-HP_0000006-GENCC_100002"	"HGNC:11509"	"SYT1"	"MONDO:0033864"	"infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"	"OMIM:618218"	"Baker-Gordon syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11509"	"SYT1"	"OMIM:618218"	"SYT1-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=366"	""	"30107533;25705886"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200366"	"2025-01-17"
"GENCC_000112-HGNC_29040-OMIM_615476-HP_0000007-GENCC_100002"	"HGNC:29040"	"SZT2"	"MONDO:0014201"	"developmental and epileptic encephalopathy, 18"	"OMIM:615476"	"Developmental and epileptic encephalopathy 18"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29040"	"SZT2"	"OMIM:615476"	"SZT2-related infantile encephalopathy with epilepsy and dysmorphic corpus callosum"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=439"	""	"32723703;33681650;31397114;30818181;35352205;28556953;27248490;30359774;30564332;36531768;31146092;37760843;35773235;38134649;30315519;32402703;30560016;29696782;23932106;37213690;28893434"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200439"	"2025-01-17"
"GENCC_000112-HGNC_11537-MONDO_0700092-HP_0000006-GENCC_100004"	"HGNC:11537"	"TAF4"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11537"	"TAF4"	"MONDO:0700092"	"TAF4-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4929"	""	"35904126"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204929"	"2025-01-17"
"GENCC_000112-HGNC_17300-MONDO_0700092-HP_0000007-GENCC_100003"	"HGNC:17300"	"TAF8"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17300"	"TAF8"	"MONDO:0700092"	"TAF8-associated neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4927"	""	"35759269"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204927"	"2025-01-17"
"GENCC_000112-HGNC_29259-OMIM_619575-HP_0000006-GENCC_100001"	"HGNC:29259"	"TAOK1"	"MONDO:0859199"	"developmental delay with or without intellectual impairment or behavioral abnormalities"	"OMIM:619575"	"Developmental delay with or without intellectual impairment or behavioral abnormalities"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29259"	"TAOK1"	"OMIM:619575"	"TAOK1-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4257"	""	"33565190;31230721"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204257"	"2025-01-17"
"GENCC_000112-HGNC_26887-MONDO_0014821-HP_0000007-GENCC_100002"	"HGNC:26887"	"TAPT1"	"MONDO:0014821"	"complex lethal osteochondrodysplasia"	"MONDO:0014821"	"complex lethal osteochondrodysplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26887"	"TAPT1"	"MONDO:0014821"	"TAPT1-related COMPLEX LETHAL OSTEOCHONDRODYSPLASIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-01-08 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2061"	""	"26365339"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202061"	"2025-01-17"
"GENCC_000112-HGNC_26887-MONDO_0005129-HP_0000007-GENCC_100004"	"HGNC:26887"	"TAPT1"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26887"	"TAPT1"	"MONDO:0005129"	"TAPT1-related Cataract"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3225"	""	"27878435"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203225"	"2025-01-17"
"GENCC_000112-HGNC_15859-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:15859"	"TASP1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15859"	"TASP1"	"MONDO:0700092"	"TASP1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-11-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4365"	""	"35512351;31209944"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204365"	"2025-01-17"
"GENCC_000112-HGNC_29183-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:29183"	"TBC1D2B"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29183"	"TBC1D2B"	"MONDO:0700092"	"TBC1D2B-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-07-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4568"	""	"36029130;32623794"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204568"	"2025-01-17"
"GENCC_000112-HGNC_11791-OMIM_617252-HP_0000007-GENCC_100004"	"HGNC:11791"	"TCHH"	"MONDO:0014990"	"uncombable hair syndrome 3"	"OMIM:617252"	"?Uncombable hair syndrome 3"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11791"	"TCHH"	"OMIM:617252"	"TCHH-related Uncombable hair syndrome 3"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5267"	""	"28940785;27866708"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205267"	"2025-01-17"
"GENCC_000112-HGNC_11724-MONDO_0000365-HP_0000006-GENCC_100001"	"HGNC:11724"	"TEK"	"MONDO:0000365"	"primary congenital glaucoma"	"MONDO:0000365"	"primary congenital glaucoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11724"	"TEK"	"MONDO:0000365"	"TEK-related Primary congenital glaucoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-06-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2565"	""	"27270174"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202565"	"2025-01-17"
"GENCC_000112-HGNC_29944-Orphanet_98938-HP_0000007-GENCC_100002"	"HGNC:29944"	"TENM3"	"MONDO:0000170"	"microphthalmia, isolated, with coloboma"	"Orphanet:98938"	"Orphanet:98938"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29944"	"TENM3"	"Orphanet:98938"	"TENM3-related Colobomatous microphthalmia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2018-05-25 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3749"	""	"27103084;22766609;29753094"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203749"	"2025-01-17"
"GENCC_000112-HGNC_11730-OMIM_613989-HP_0000006-GENCC_100002"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11730"	"TERT"	"OMIM:613989"	"TERT-related Dyskeratosis Congenita"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-11-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4973"	""	"16247010;30523342;25067791;35927969"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204973"	"2025-01-17"
"GENCC_000112-HGNC_11730-OMIM_613989-HP_0000007-GENCC_100002"	"HGNC:11730"	"TERT"	"MONDO:0013521"	"dyskeratosis congenita, autosomal dominant 2"	"OMIM:613989"	"Dyskeratosis congenita, autosomal recessive 4"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11730"	"TERT"	"OMIM:613989"	"TERT-related Dyskeratosis congenita"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2016-01-03 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2040"	""	"35477117;34890115;26546739;17785587"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202040"	"2025-01-17"
"GENCC_000112-HGNC_11763-MONDO_0015131-HP_0000007-GENCC_100004"	"HGNC:11763"	"TFRC"	"MONDO:0015131"	"combined immunodeficiency"	"MONDO:0015131"	"combined immunodeficiency"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11763"	"TFRC"	"MONDO:0015131"	"TFRC-related Combined immunodeficiency"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2016-06-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2132"	""	"26642240"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202132"	"2025-01-17"
"GENCC_000112-HGNC_11772-MONDO_0007566-HP_0000006-GENCC_100001"	"HGNC:11772"	"TGFBR1"	"MONDO:0007566"	"multiple self-healing squamous epithelioma"	"MONDO:0007566"	"multiple self-healing squamous epithelioma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11772"	"TGFBR1"	"MONDO:0007566"	"TGFBR1-related multiple self-healing squamous epithelioma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-11-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4980"	""	"21358634"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204980"	"2025-01-17"
"GENCC_000112-HGNC_11777-MONDO_0009441-HP_0000007-GENCC_100001"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"MONDO:0009441"	"autosomal recessive congenital ichthyosis 1"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11777"	"TGM1"	"MONDO:0009441"	"TGM1-related Congenital ichthyosis type 1"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4181"	""	"16968736;7824952"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204181"	"2025-01-17"
"GENCC_000112-HGNC_11779-OMIM_617251-HP_0000007-GENCC_100004"	"HGNC:11779"	"TGM3"	"MONDO:0014989"	"uncombable hair syndrome 2"	"OMIM:617251"	"?Uncombable hair syndrome 2"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11779"	"TGM3"	"OMIM:617251"	"TGM3-related Uncombable hair syndrome 2"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5266"	""	"28940785;27866708"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205266"	"2025-01-17"
"GENCC_000112-HGNC_11781-MONDO_0012345-HP_0000007-GENCC_100001"	"HGNC:11781"	"TGM5"	"MONDO:0012345"	"acral peeling skin syndrome"	"MONDO:0012345"	"acral peeling skin syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11781"	"TGM5"	"MONDO:0012345"	"TGM5-related Peeling skin syndrome, acral type"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4217"	""	"16380904"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204217"	"2025-01-17"
"GENCC_000112-HGNC_11824-MONDO_0013522-HP_0000006-GENCC_100001"	"HGNC:11824"	"TINF2"	"MONDO:0013522"	"dyskeratosis congenita, autosomal dominant 3"	"MONDO:0013522"	"dyskeratosis congenita, autosomal dominant 3"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11824"	"TINF2"	"MONDO:0013522"	"TINF2-related Dyskeratosis congenita, autosomal dominant"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4944"	""	"18252230;18669893"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204944"	"2025-01-17"
"GENCC_000112-HGNC_25382-MONDO_0003608-HP_0000007-GENCC_100001"	"HGNC:25382"	"TMEM126A"	"MONDO:0003608"	"optic atrophy"	"MONDO:0003608"	"optic atrophy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:25382"	"TMEM126A"	"MONDO:0003608"	"TMEM126A-related Optic atrophy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-06-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2583"	""	"19327736;20405026;22815638"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202583"	"2025-01-17"
"GENCC_000112-HGNC_27344-MONDO_0005308-HP_0000007-GENCC_100002"	"HGNC:27344"	"TMEM218"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:27344"	"TMEM218"	"MONDO:0005308"	"TMEM218-associated ciliopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-10-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4922"	""	"33791682;35137054"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204922"	"2025-01-17"
"GENCC_000112-HGNC_23787-MONDO_0019064-HP_0000007-GENCC_100003"	"HGNC:23787"	"TMEM63C"	"MONDO:0019064"	"hereditary spastic paraplegia"	"MONDO:0019064"	"hereditary spastic paraplegia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23787"	"TMEM63C"	"MONDO:0019064"	"TMEM63C-associated hereditary spastic paraplegia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-08-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4916"	""	"35718349"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204916"	"2025-01-17"
"GENCC_000112-HGNC_24529-Orphanet_35612-HP_0000006-GENCC_100002"	"HGNC:24529"	"TMEM98"	"MONDO:0005514"	"nanophthalmia"	"Orphanet:35612"	"Orphanet:35612"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:24529"	"TMEM98"	"Orphanet:35612"	"TMEM98-related NANOPHTHALMOS"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3201"	""	"26392740;24852644"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203201"	"2025-01-17"
"GENCC_000112-HGNC_26899-MONDO_0018869-HP_0000007-GENCC_100002"	"HGNC:26899"	"TMTC3"	"MONDO:0018869"	"cobblestone lissencephaly"	"MONDO:0018869"	"cobblestone lissencephaly"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:26899"	"TMTC3"	"MONDO:0018869"	"TMTC3-related Cobblestone Lissencephaly"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-03-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2385"	""	"27773428"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202385"	"2025-01-17"
"GENCC_000112-HGNC_11916-MONDO_0007727-HP_0000006-GENCC_100001"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"MONDO:0007727"	"autosomal dominant familial periodic fever"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:11916"	"TNFRSF1A"	"MONDO:0007727"	"TNFRSF1A-related Periodic fever, familial, autosomal dominant"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4218"	""	"10199409"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204218"	"2025-01-17"
"GENCC_000112-HGNC_11950-MONDO_0019952-HP_0000007-GENCC_100002"	"HGNC:11950"	"TNNT3"	"MONDO:0019952"	"congenital myopathy"	"MONDO:0019952"	"congenital myopathy"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11950"	"TNNT3"	"MONDO:0019952"	"TNNT3-associated congenital myopathy (biallelic)"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4717"	""	"33977145;29266598"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204717"	"2025-01-17"
"GENCC_000112-HGNC_19998-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:19998"	"TNPO2"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:19998"	"TNPO2"	"MONDO:0001071"	"TNPO2-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-09-29 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4773"	""	"34314705"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204773"	"2025-01-17"
"GENCC_000112-HGNC_29190-MONDO_0700092-HP_0000006-GENCC_100002"	"HGNC:29190"	"TNRC6B"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29190"	"TNRC6B"	"MONDO:0700092"	"TNRC6B-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-10-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4611"	""	"32152250"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204611"	"2025-01-17"
"GENCC_000112-HGNC_11976-MONDO_0020066-HP_0000007-GENCC_100001"	"HGNC:11976"	"TNXB"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"MONDO:0020066"	"Ehlers-Danlos syndrome"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11976"	"TNXB"	"MONDO:0020066"	"TNXB-related Classical-like Ehlers Danlos syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2018-07-05 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3844"	""	"12865992;11642233"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203844"	"2025-01-17"
"GENCC_000112-HGNC_15954-MONDO_0020135-HP_0000007-GENCC_100002"	"HGNC:15954"	"TOE1"	"MONDO:0020135"	"pontocerebellar hypoplasia"	"MONDO:0020135"	"pontocerebellar hypoplasia"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:15954"	"TOE1"	"MONDO:0020135"	"TOE1-related PONTOCEREBELLAR HYPOPLASIA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3127"	""	"34085948;28092684"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203127"	"2025-01-17"
"GENCC_000112-HGNC_19959-MONDO_0005308-HP_0000007-GENCC_100001"	"HGNC:19959"	"TOGARAM1"	"MONDO:0005308"	"ciliopathy"	"MONDO:0005308"	"ciliopathy"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19959"	"TOGARAM1"	"MONDO:0005308"	"TOGARAM1-related ciliopathy"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-09-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4587"	""	"32453716;32747439"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204587"	"2025-01-17"
"GENCC_000112-HGNC_15979-MONDO_0007508-HP_0000006-GENCC_100001"	"HGNC:15979"	"TP63"	"MONDO:0007508"	"Rapp-Hodgkin syndrome"	"MONDO:0007508"	"Rapp-Hodgkin syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15979"	"TP63"	"MONDO:0007508"	"TP63-related RAPP-HODGKIN SYNDROME"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4227"	""	"12939657"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204227"	"2025-01-17"
"GENCC_000112-HGNC_11868-MONDO_0001071-HP_0000007-GENCC_100004"	"HGNC:11868"	"TRAPPC10"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:11868"	"TRAPPC10"	"MONDO:0001071"	"TRAPPC10-associated intellectual disability"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2021-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4714"	""	"30167849"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204714"	"2025-01-17"
"GENCC_000112-HGNC_16384-MONDO_0024676-HP_0000006-GENCC_100001"	"HGNC:16384"	"TRIM28"	"MONDO:0024676"	"childhood kidney Wilms tumor"	"MONDO:0024676"	"childhood kidney Wilms tumor"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16384"	"TRIM28"	"MONDO:0024676"	"TRIM28-related Wilms tumour"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4941"	""	"30885698;33565090"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204941"	"2025-01-17"
"GENCC_000112-HGNC_15579-MONDO_0700092-HP_0000006-GENCC_100001"	"HGNC:15579"	"TRIM8"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:15579"	"TRIM8"	"MONDO:0700092"	"TRIM8-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2020-06-23 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4504"	""	"33508234;30244534;27346735;32531461"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204504"	"2025-01-17"
"GENCC_000112-HGNC_12337-MONDO_0700092-HP_0001417-GENCC_100004"	"HGNC:12337"	"TRPC5"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:12337"	"TRPC5"	"MONDO:0700092"	"TRPC5-related neurodevelopmental disorder"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-02-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5005"	""	"36323681"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205005"	"2025-01-17"
"GENCC_000112-HGNC_17993-OMIM_618531-HP_0000006-GENCC_100003"	"HGNC:17993"	"TRPM4"	"MONDO:0032801"	"erythrokeratodermia variabilis et progressiva 6"	"OMIM:618531"	"Erythrokeratodermia variabilis et progressiva 6"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:17993"	"TRPM4"	"OMIM:618531"	"TRPM4-related Erythrokeratodermiavariabilis et progressiva 6"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5280"	""	"30528822"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205280"	"2025-01-17"
"GENCC_000112-HGNC_21641-OMIM_613310-HP_0000006-GENCC_100001"	"HGNC:21641"	"TSPAN12"	"MONDO:0013218"	"exudative vitreoretinopathy 5"	"OMIM:613310"	"Exudative vitreoretinopathy 5"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:21641"	"TSPAN12"	"OMIM:613310"	"TSPAN12-related EXUDATIVE VITREORETINOPATHY 5"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-04-21 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2406"	""	"37451565;22427576;23834558;20159112;35277167;21334594;28002565;33907885;20159111;21552475;31827910;38111929;35417085;25250762"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202406"	"2025-01-17"
"GENCC_000112-HGNC_23700-MONDO_0016575-HP_0000007-GENCC_100004"	"HGNC:23700"	"TTC12"	"MONDO:0016575"	"primary ciliary dyskinesia"	"MONDO:0016575"	"primary ciliary dyskinesia"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:23700"	"TTC12"	"MONDO:0016575"	"TTC12-related Primary Ciliary Dyskinesia"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-02-13 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4460"	""	"31978331"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204460"	"2025-01-17"
"GENCC_000112-HGNC_19274-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:19274"	"TTC5"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19274"	"TTC5"	"MONDO:0700092"	"TTC5-associated neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2020-06-06 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4498"	""	"32439809"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204498"	"2025-01-17"
"GENCC_000112-HGNC_12405-MONDO_0019441-HP_0000006-GENCC_100001"	"HGNC:12405"	"TTR"	"MONDO:0019441"	"ATTRV122I amyloidosis"	"MONDO:0019441"	"ATTRV122I amyloidosis"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12405"	"TTR"	"MONDO:0019441"	"TTR-related hereditary ATTR amyloidosis"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2024-03-26 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5141"	""	"32969287;25604431;9191784;28213611;15185500;29941560;30328212;15930086"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205141"	"2025-01-17"
"GENCC_000112-HGNC_20772-MONDO_0013541-HP_0000006-GENCC_100002"	"HGNC:20772"	"TUBB3"	"MONDO:0013541"	"complex cortical dysplasia with other brain malformations 1"	"MONDO:0013541"	"complex cortical dysplasia with other brain malformations 1"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20772"	"TUBB3"	"MONDO:0013541"	"TUBB3-related CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=924"	""	"20829227;20074521"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200924"	"2025-01-17"
"GENCC_000112-HGNC_20772-MONDO_0010912-HP_0000006-GENCC_100002"	"HGNC:20772"	"TUBB3"	"MONDO:0010912"	"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"	"MONDO:0010912"	"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:20772"	"TUBB3"	"MONDO:0010912"	"TUBB3-related Fibrosis of extraocular muscles, congenital, 3A"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-05-01 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2448"	""	"12073023;20074521;10393037"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202448"	"2025-01-17"
"GENCC_000112-HGNC_30661-OMIM_619959-HP_0000006-GENCC_100002"	"HGNC:30661"	"UBA2"	"MONDO:0859262"	"ACCES syndrome"	"OMIM:619959"	"ACCES syndrome"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:30661"	"UBA2"	"OMIM:619959"	"UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2024-12-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5222"	""	"34159400;32758660;34040189;37221169;28110515;31332306;31587267;39149811"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205222"	"2025-01-17"
"GENCC_000112-HGNC_29877-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:29877"	"UBAP2L"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:29877"	"UBAP2L"	"MONDO:0700092"	"UBAP2L-associated neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-10-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4930"	""	"35977029"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204930"	"2025-01-17"
"GENCC_000112-HGNC_12499-MONDO_0700092-HP_0000007-GENCC_100002"	"HGNC:12499"	"UBE4A"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12499"	"UBE4A"	"MONDO:0700092"	"UBE4A-associated neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2021-04-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4700"	""	"33420346"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204700"	"2025-01-17"
"GENCC_000112-HGNC_12556-MONDO_0000133-HP_0000007-GENCC_100004"	"HGNC:12556"	"UHRF1"	"MONDO:0000133"	"immunodeficiency-centromeric instability-facial anomalies syndrome"	"MONDO:0000133"	"immunodeficiency-centromeric instability-facial anomalies syndrome"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12556"	"UHRF1"	"MONDO:0000133"	"UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2023-07-19 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5050"	""	"36458887"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205050"	"2025-01-17"
"GENCC_000112-HGNC_12565-MONDO_0015993-HP_0000006-GENCC_100004"	"HGNC:12565"	"UNC119"	"MONDO:0015993"	"cone-rod dystrophy"	"MONDO:0015993"	"cone-rod dystrophy"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12565"	"UNC119"	"MONDO:0015993"	"UNC119-related Cone-rod dystrophy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3172"	""	"23563732;11006213"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203172"	"2025-01-17"
"GENCC_000112-HGNC_30594-MONDO_0859164-HP_0000007-GENCC_100002"	"HGNC:30594"	"UNC45A"	"MONDO:0859164"	"osteootohepatoenteric syndrome"	"MONDO:0859164"	"osteootohepatoenteric syndrome"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:30594"	"UNC45A"	"MONDO:0859164"	"UNC45A-related Osteootohepatoenteric syndrome"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2022-06-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4907"	""	"35575086"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204907"	"2025-01-17"
"GENCC_000112-HGNC_12612-MONDO_0800439-HP_0000007-GENCC_100003"	"HGNC:12612"	"USP14"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"MONDO:0800439"	"syndromic complex neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12612"	"USP14"	"MONDO:0800439"	"USP14-related syndromic neurodevelopmental disorder with arthrogryposis"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-05-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4889"	""	"38469793;35066879"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204889"	"2025-01-17"
"GENCC_000112-HGNC_13486-OMIM_300984-HP_0001417-GENCC_100002"	"HGNC:13486"	"USP27X"	"MONDO:0010510"	"intellectual disability, X-linked 105"	"OMIM:300984"	"Intellectual developmental disorder, X-linked 105"	"GENCC:100002"	"Strong"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:13486"	"USP27X"	"OMIM:300984"	"USP27X-related intellectual disability"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-06-17 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2575"	""	"25644381"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202575"	"2025-01-17"
"GENCC_000112-HGNC_12643-OMIM_618760-HP_0000006-GENCC_100002"	"HGNC:12643"	"VAMP2"	"MONDO:0032900"	"neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"	"OMIM:618760"	"Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12643"	"VAMP2"	"OMIM:618760"	"VAMP2-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4278"	""	"30929742"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204278"	"2025-01-17"
"GENCC_000112-HGNC_12687-MONDO_0008233-HP_0000006-GENCC_100001"	"HGNC:12687"	"VHL"	"MONDO:0008233"	"pheochromocytoma"	"MONDO:0008233"	"pheochromocytoma"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12687"	"VHL"	"MONDO:0008233"	"VHL-related Pheochromocytoma"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4219"	""	"8592333;11519521;9663592"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204219"	"2025-01-17"
"GENCC_000112-HGNC_12692-MONDO_0005129-HP_0000006-GENCC_100001"	"HGNC:12692"	"VIM"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12692"	"VIM"	"MONDO:0005129"	"VIM-related Congenital cataract"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2017-08-31 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3164"	""	"19126778;28450710;26694549"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203164"	"2025-01-17"
"GENCC_000112-HGNC_12693-MONDO_0005259-HP_0000006-GENCC_100004"	"HGNC:12693"	"VIP"	"MONDO:0005259"	"Asperger syndrome"	"MONDO:0005259"	"Asperger syndrome"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12693"	"VIP"	"MONDO:0005259"	"VIP-related ASPERGER"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1907"	""	"23849776"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201907"	"2025-01-17"
"GENCC_000112-HGNC_12712-OMIM_620009-HP_0000007-GENCC_100003"	"HGNC:12712"	"VPS33B"	"MONDO:0859278"	"keratoderma-ichthyosis-deafness syndrome, autosomal recessive"	"OMIM:620009"	"Keratoderma-ichthyosis-deafness syndrome, autosomal recessive"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12712"	"VPS33B"	"OMIM:620009"	"VPS33B-related Keratoderma-ichthyosis-deafness syndrome, autosomal recessive"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2025-01-09 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5268"	""	"28017832"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205268"	"2025-01-17"
"GENCC_000112-HGNC_12729-MONDO_0018894-HP_0000006-GENCC_100001"	"HGNC:12729"	"WARS1"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"MONDO:0018894"	"distal hereditary motor neuropathy"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12729"	"WARS1"	"MONDO:0018894"	"WARS1-related Distal hereditary motor neuropathy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2022-12-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4985"	""	"31321409;28369220;31069783"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204985"	"2025-01-17"
"GENCC_000112-HGNC_12732-MONDO_0032876-HP_0000006-GENCC_100002"	"HGNC:12732"	"WASF1"	"MONDO:0032876"	"neurodevelopmental disorder with absent language and variable seizures"	"MONDO:0032876"	"neurodevelopmental disorder with absent language and variable seizures"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12732"	"WASF1"	"MONDO:0032876"	"WASF1-related Intellectual Disability with Seizures"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4031"	""	"29961568"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204031"	"2025-01-17"
"GENCC_000112-HGNC_12757-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:12757"	"WDR5"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12757"	"WDR5"	"MONDO:0700092"	"WDR5-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-02-28 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5009"	""	"36408368"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205009"	"2025-01-17"
"GENCC_000112-HGNC_29934-MONDO_0005129-HP_0000007-GENCC_100004"	"HGNC:29934"	"WDR87"	"MONDO:0005129"	"cataract"	"MONDO:0005129"	"cataract"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:29934"	"WDR87"	"MONDO:0005129"	"WDR87-related Congenital cataract"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2017-05-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2497"	""	"27878435;26622071"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202497"	"2025-01-17"
"GENCC_000112-HGNC_14540-MONDO_0024309-HP_0000007-GENCC_100001"	"HGNC:14540"	"WNK1"	"MONDO:0024309"	"neuropathy, hereditary sensory and autonomic, type 2A"	"MONDO:0024309"	"neuropathy, hereditary sensory and autonomic, type 2A"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:14540"	"WNK1"	"MONDO:0024309"	"WNK1-related Neuropathy, hereditary sensory and autonomic, type II"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-09-16 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4157"	""	"15060842;16534117"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204157"	"2025-01-17"
"GENCC_000112-HGNC_14543-MONDO_0700092-HP_0001417-GENCC_100003"	"HGNC:14543"	"WNK3"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:14543"	"WNK3"	"MONDO:0700092"	"WNK3-related neurodevelopmental disorder"	"HP:0001417"	"monoallelic_X_hem"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-07-20 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4909"	""	"35678782"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204909"	"2025-01-17"
"GENCC_000112-HGNC_12774-MONDO_0019019-HP_0000007-GENCC_100001"	"HGNC:12774"	"WNT1"	"MONDO:0019019"	"osteogenesis imperfecta"	"MONDO:0019019"	"osteogenesis imperfecta"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12774"	"WNT1"	"MONDO:0019019"	"WNT1-related OSTEOGENESIS IMPERFECTA"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1019"	""	"23499309"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201019"	"2025-01-17"
"GENCC_000112-HGNC_12796-MONDO_0008679-HP_0000006-GENCC_100001"	"HGNC:12796"	"WT1"	"MONDO:0008679"	"Wilms tumor 1"	"MONDO:0008679"	"Wilms tumor 1"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12796"	"WT1"	"MONDO:0008679"	"WT1-related FAMILIAL WILMS TUMOUR"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2019-03-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4004"	""	"20301471"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204004"	"2025-01-17"
"GENCC_000112-HGNC_12831-OMIM_616541-HP_0000007-GENCC_100001"	"HGNC:12831"	"XRCC4"	"MONDO:0014686"	"short stature, microcephaly, and endocrine dysfunction"	"OMIM:616541"	"Short stature, microcephaly, and endocrine dysfunction"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:12831"	"XRCC4"	"OMIM:616541"	"XRCC4-related PRIMORDIAL DWARFISM"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=166"	""	"25728776"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200166"	"2025-01-17"
"GENCC_000112-HGNC_12852-MONDO_0018614-HP_0000006-GENCC_100002"	"HGNC:12852"	"YWHAG"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"MONDO:0018614"	"undetermined early-onset epileptic encephalopathy"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12852"	"YWHAG"	"MONDO:0018614"	"YWHAG-related Early-Onset Epilepsy"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2017-08-30 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=3071"	""	"28777935"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011203071"	"2025-01-17"
"GENCC_000112-HGNC_12856-OMIM_617557-HP_0000006-GENCC_100001"	"HGNC:12856"	"YY1"	"MONDO:0044738"	"Gabriele de Vries syndrome"	"OMIM:617557"	"Gabriele-de Vries syndrome"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:12856"	"YY1"	"OMIM:617557"	"YY1-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100001"	"definitive"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=909"	""	"21076407;28575647"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200909"	"2025-01-17"
"GENCC_000112-HGNC_16700-Orphanet_377789-HP_0000006-GENCC_100004"	"HGNC:16700"	"ZFPM2"	"MONDO:8000032"	"malformation syndrome"	"Orphanet:377789"	"Orphanet:377789"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16700"	"ZFPM2"	"Orphanet:377789"	"ZFPM2-associated malformation syndrome"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=545"	""	"24549039"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011200545"	"2025-01-17"
"GENCC_000112-HGNC_17806-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:17806"	"ZFTRAF1"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:17806"	"ZFTRAF1"	"MONDO:0700092"	"ZFTRAF1-related neurodevelopmental disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2024-09-18 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5190"	""	"38641995"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205190"	"2025-01-17"
"GENCC_000112-HGNC_16493-MONDO_0032855-HP_0000006-GENCC_100002"	"HGNC:16493"	"ZMIZ1"	"MONDO:0032855"	"neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	"MONDO:0032855"	"neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16493"	"ZMIZ1"	"MONDO:0032855"	"ZMIZ1-related Syndromic Neurodevelopmental Disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2019-03-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4065"	""	"30639322"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204065"	"2025-01-17"
"GENCC_000112-HGNC_13054-MONDO_0700092-HP_0001417-GENCC_100003"	"HGNC:13054"	"ZMYM3"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000112"	"G2P"	"HGNC:13054"	"ZMYM3"	"MONDO:0700092"	"ZMYM3-related neurodevelopmental disorder"	"HP:0001417"	"monoallelic_X_het"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2023-03-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5019"	""	"36586412"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011205019"	"2025-01-17"
"GENCC_000112-HGNC_13050-MONDO_0001071-HP_0000006-GENCC_100004"	"HGNC:13050"	"ZMYM6"	"MONDO:0001071"	"intellectual disability"	"MONDO:0001071"	"intellectual disability"	"GENCC:100004"	"Limited"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:13050"	"ZMYM6"	"MONDO:0001071"	"ZMYM6-related intellectual disability "	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2015-07-22 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1204"	""	""	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011201204"	"2025-01-17"
"GENCC_000112-HGNC_16966-OMIM_616083-HP_0000006-GENCC_100002"	"HGNC:16966"	"ZMYND11"	"MONDO:0014486"	"intellectual disability, autosomal dominant 30"	"OMIM:616083"	"Intellectual developmental disorder, autosomal dominant 30"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:16966"	"ZMYND11"	"OMIM:616083"	"ZMYND11-related intellectual disability"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100002"	"strong"	"2015-08-27 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2020"	""	"25281490;25217958;27626064"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011202020"	"2025-01-17"
"GENCC_000112-HGNC_9397-MONDO_0700092-HP_0000006-GENCC_100003"	"HGNC:9397"	"ZMYND8"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100003"	"Moderate"	"HP:0000006"	"Autosomal dominant"	"GENCC:000112"	"G2P"	"HGNC:9397"	"ZMYND8"	"MONDO:0700092"	"ZMYND8-related neurodevelopmental disorder"	"HP:0000006"	"monoallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100003"	"moderate"	"2022-11-15 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4957"	""	"35916866"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204957"	"2025-01-17"
"GENCC_000112-HGNC_19904-MONDO_0700092-HP_0000007-GENCC_100004"	"HGNC:19904"	"ZNF407"	"MONDO:0700092"	"neurodevelopmental disorder"	"MONDO:0700092"	"neurodevelopmental disorder"	"GENCC:100004"	"Limited"	"HP:0000007"	"Autosomal recessive"	"GENCC:000112"	"G2P"	"HGNC:19904"	"ZNF407"	"MONDO:0700092"	"ZNF407-related Neurodevelopmental Disorder"	"HP:0000007"	"biallelic_autosomal"	"GENCC:000112"	"TGMI G2P"	"GENCC:100004"	"limited"	"2020-09-07 00:00:00"	"https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4586"	""	"32737394;24907849"	"https://www.ebi.ac.uk/gene2phenotype/terminology"	"100011204586"	"2025-01-17"
"GENCC_000116-HGNC_24682-OMIM_620988-HP_0000007-GENCC_100001"	"HGNC:24682"	"FLVCR1"	""	""	"OMIM:620988"	"Intellectual developmental disorder, autosomal dominant 75"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:24682"	"FLVCR1"	"OMIM:620988"	"Retinopathy-sensory neuropathy syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100001"	"Definitive"	"2025-02-10 00:00:00"	""	""	"39306721, 37769650, 21070897"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"021020253"	"2025-02-10"
"GENCC_000116-HGNC_3363-OMIM_615683-HP_0000007-GENCC_100001"	"HGNC:3363"	"ENTPD1"	"MONDO:0014303"	"hereditary spastic paraplegia 64"	"OMIM:615683"	"Spastic paraplegia 64, autosomal recessive"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:3363"	"ENTPD1"	"OMIM:615683"	"Spastic paraplegia 64, autosomal recessive"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100001"	"Definitive"	"2025-02-10 00:00:00"	""	""	"35471564, 24482476"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"021020254"	"2025-02-10"
"GENCC_000116-HGNC_2750-OMIM_620988-HP_0000006-GENCC_100002"	"HGNC:2750"	"DHX9"	""	""	"OMIM:620988"	"Intellectual developmental disorder, autosomal dominant 75"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:2750"	"DHX9"	"OMIM:620988"	"Intellectual developmental disorder, autosomal dominant 75	"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100002"	"Strong"	"2025-02-10 00:00:00"	""	""	"37467750, 37369308"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"021020255"	"2025-02-10"
"GENCC_000116-HGNC_25576-OMIM_618321-HP_0000007-GENCC_100001"	"HGNC:25576"	"NAXD"	"MONDO:0034121"	"NAD(P)HX dehydratase deficiency"	"OMIM:618321"	"Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2"	"GENCC:100001"	"Definitive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:25576"	"NAXD"	"OMIM:618321"	"Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100001"	"Definitive"	"2025-02-10 00:00:00"	""	""	"30576410, 32462209, 31755961, 35231119"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"021020256"	"2025-02-10"
"GENCC_000116-HGNC_10780-OMIM_620489-HP_0000006-GENCC_100002"	"HGNC:10780"	"SRSF1"	"MONDO:0957583"	"neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"	"OMIM:620489"	"Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"	"GENCC:100002"	"Strong"	"HP:0000006"	"Autosomal dominant"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:10780"	"SRSF1"	"OMIM:620489"	"Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100002"	"Strong"	"2025-02-10 00:00:00"	""	""	"37071997"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"021020257"	"2025-02-10"
"GENCC_000116-HGNC_20226-OMIM_620156-HP_0000007-GENCC_100003"	"HGNC:20226"	"KIF26A"	"MONDO:0859332"	"cortical dysplasia, complex, with other brain malformations 11"	"OMIM:620156"	"Cortical dysplasia, complex, with other brain malformations 11"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:20226"	"KIF26A"	"OMIM:620156"	"Cortical dysplasia, complex, with other brain malformations 11"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100003"	"Moderate"	"2025-02-10 00:00:00"	""	""	"36228617, 34582790"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"021020258"	"2025-02-10"
"GENCC_000116-HGNC_15631-OMIM_301080-HP_0001417-GENCC_100003"	"HGNC:15631"	"TLR7"	"MONDO:0859083"	"systemic lupus erythematosus 17"	"OMIM:301080"	"Systemic lupus erythematosus 17"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:15631"	"TLR7"	"OMIM:301080"	"Systemic lupus erythematosus 17"	"HP:0001417"	"X-linked inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100003"	"Moderate"	"2025-02-10 00:00:00"	""	""	"35477763, 38324161"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"021020259"	"2025-02-10"
"GENCC_000116-HGNC_30203-OMIM_621016-HP_0000007-GENCC_100003"	"HGNC:30203"	"WDR83OS"	""	""	"OMIM:621016"	"Neurodevelopmental disorder with variable familial hypercholanemia"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:30203"	"WDR83OS"	"OMIM:621016"	"Neurodevelopmental disorder with variable familial hypercholanemia"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100003"	"Moderate"	"2025-02-10 00:00:00"	""	""	"39471804"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"0210202510"	"2025-02-10"
"GENCC_000116-HGNC_9865-OMIM_615524-HP_0000006-GENCC_100001"	"HGNC:9865"	"RARB"	"MONDO:0014229"	"microphthalmia, syndromic 12"	"OMIM:615524"	"Microphthalmia, syndromic 12"	"GENCC:100001"	"Definitive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:9865"	"RARB"	"OMIM:615524"	"Microphthalmia, syndromic 12"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100001"	"Definitive"	"2025-02-10 00:00:00"	""	""	"24075189, 27120018, 37092537"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"0210202511"	"2025-02-10"
"GENCC_000116-HGNC_13811-OMIM_620746-HP_0000007-GENCC_100002"	"HGNC:13811"	"SLC4A10"	"MONDO:0958278"	"neurodevelopmental disorder with hypotonia and characteristic brain abnormalities"	"OMIM:620746"	"Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:13811"	"SLC4A10"	"OMIM:620746"	"Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100002"	"Strong"	"2025-02-10 00:00:00"	""	""	"37459438, 38054405"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"0210202512"	"2025-02-10"
"GENCC_000116-HGNC_26611-OMIM_620250-HP_0000007-GENCC_100003"	"HGNC:26611"	"HECTD4"	"MONDO:0859516"	"neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:26611"	"HECTD4"	"OMIM:620250"	"Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100003"	"Moderate"	"2025-02-10 00:00:00"	""	""	"36401616"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"0210202513"	"2025-02-10"
"GENCC_000116-HGNC_9091-OMIM_306950-HP_0001417-GENCC_100003"	"HGNC:9091"	"PLS3"	"MONDO:0010606"	"hernia, anterior diaphragmatic"	"OMIM:306950"	"Diaphragmatic hernia 5, X-linked"	"GENCC:100003"	"Moderate"	"HP:0001417"	"X-linked"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:9091"	"PLS3"	"OMIM:306950"	"Diaphragmatic hernia 5, X-linked"	"HP:0001417"	"X-linked inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100003"	"Moderate"	"2025-02-10 00:00:00"	""	""	"37751738"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"0210202514"	"2025-02-10"
"GENCC_000116-HGNC_25072-OMIM_617977-HP_0000007-GENCC_100002"	"HGNC:25072"	"WDR45B"	"MONDO:0060704"	"neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"	"OMIM:617977"	"Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:25072"	"WDR45B"	"OMIM:617977"	"Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100002"	"Strong"	"2025-02-10 00:00:00"	""	""	"21937992, 27431290, 28503735, 35322404"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"0210202515"	"2025-02-10"
"GENCC_000116-HGNC_11137-OMIM_620515-HP_0000007-GENCC_100003"	"HGNC:11137"	"SNAPC4"	"MONDO:0957791"	"neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction"	"OMIM:620515"	"Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction"	"GENCC:100003"	"Moderate"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:11137"	"SNAPC4"	"OMIM:620515"	"Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100003"	"Moderate"	"2025-02-10 00:00:00"	""	""	"36965478"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"0210202516"	"2025-02-10"
"GENCC_000116-HGNC_19344-OMIM_617281-HP_0000007-GENCC_100002"	"HGNC:19344"	"DENND5A"	"MONDO:0015002"	"developmental and epileptic encephalopathy, 49"	"OMIM:617281"	"Developmental and epileptic encephalopathy 49"	"GENCC:100002"	"Strong"	"HP:0000007"	"Autosomal recessive"	"GENCC:000116"	"Baylor College of Medicine Research Center"	"HGNC:19344"	"DENND5A"	"OMIM:617281"	"Developmental and epileptic encephalopathy 49"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000116"	"Daniel G. Calame, MD, PhD"	"GENCC:100002"	"Strong"	"2025-02-10 00:00:00"	""	""	"27866705, 27431290, 39174524"	"https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure"	"0210202517"	"2025-02-10"
"GENCC_000110-HGNC_8957-Orphanet_447-HP_0000005-GENCC_100009"	"HGNC:8957"	"PIGA"	"MONDO:0100244"	"paroxysmal nocturnal hemoglobinuria"	"Orphanet:447"	"Orphanet:447"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:8957"	"PIGA"	"Orphanet:447"	"Paroxysmal nocturnal hemoglobinuria"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"22305531"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_PIGA_Orphanet:447_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_3748-Orphanet_461-HP_0001417-GENCC_100009"	"HGNC:3748"	"FLG"	"MONDO:0010622"	"recessive X-linked ichthyosis"	"Orphanet:461"	"Orphanet:461"	"GENCC:100009"	"Supportive"	"HP:0001417"	"X-linked"	"GENCC:000110"	"Orphanet"	"HGNC:3748"	"FLG"	"Orphanet:461"	"Recessive X-linked ichthyosis"	"HP:0001417"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"29054605"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_FLG_Orphanet:461_HP:0001417"	"2025-03-06"
"GENCC_000110-HGNC_3179-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:3179"	"EDNRA"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:3179"	"EDNRA"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"20028935"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_EDNRA_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_14469-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:14469"	"SLC26A9"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:14469"	"SLC26A9"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"28756021"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_SLC26A9_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_5013-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:5013"	"HMOX1"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:5013"	"HMOX1"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"28289476"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_HMOX1_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_15518-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:15518"	"DCTN4"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:15518"	"DCTN4"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"22772370"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_DCTN4_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_2018-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:2018"	"CLCA4"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:2018"	"CLCA4"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23073314"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_CLCA4_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_1815-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:1815"	"CEACAM3"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1815"	"CEACAM3"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"20047061"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_CEACAM3_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_1818-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:1818"	"CEACAM6"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:1818"	"CEACAM6"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"20047061"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_CEACAM6_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_11047-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:11047"	"SLC6A14"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11047"	"SLC6A14"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"28756021"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_SLC6A14_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_11073-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:11073"	"SLC9A3"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11073"	"SLC9A3"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"28756021"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_SLC9A3_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_11433-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:11433"	"STX1A"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11433"	"STX1A"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23572023"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_STX1A_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_11766-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:11766"	"TGFB1"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:11766"	"TGFB1"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"18424453"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_TGFB1_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_4635-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:4635"	"GSTM3"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4635"	"GSTM3"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"28289476"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_GSTM3_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_4886-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:4886"	"HFE"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4886"	"HFE"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"30291871"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_HFE_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_10907-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:10907"	"SLC11A1"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:10907"	"SLC11A1"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"28756021"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_SLC11A1_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_6293-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:6293"	"KCNN4"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:6293"	"KCNN4"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"29915289"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_KCNN4_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_8941-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:8941"	"SERPINA1"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:8941"	"SERPINA1"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"19738092"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_SERPINA1_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_4311-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:4311"	"GCLC"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:4311"	"GCLC"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"16690975"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_GCLC_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_7097-Orphanet_586-HP_0000007-GENCC_100009"	"HGNC:7097"	"MIF"	"MONDO:0009061"	"cystic fibrosis"	"Orphanet:586"	"Orphanet:586"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:7097"	"MIF"	"Orphanet:586"	"Cystic fibrosis"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"16179637"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MIF_Orphanet:586_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_2979-Orphanet_269-HP_0000006-GENCC_100009"	"HGNC:2979"	"DNMT3B"	"MONDO:0001347"	"facioscapulohumeral muscular dystrophy"	"Orphanet:269"	"Orphanet:269"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:2979"	"DNMT3B"	"Orphanet:269"	"Facioscapulohumeral dystrophy"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"27153398"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_DNMT3B_Orphanet:269_HP:0000006"	"2025-03-06"
"GENCC_000110-HGNC_7497-Orphanet_551-HP_0001427-GENCC_100009"	"HGNC:7497"	"MT-TS1"	"MONDO:0010790"	"MERRF syndrome"	"Orphanet:551"	"Orphanet:551"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7497"	"MT-TS1"	"Orphanet:551"	"MERRF"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"7669057"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MT-TS1_Orphanet:551_HP:0001427"	"2025-03-06"
"GENCC_000110-HGNC_7494-Orphanet_551-HP_0001427-GENCC_100009"	"HGNC:7494"	"MT-TP"	"MONDO:0010790"	"MERRF syndrome"	"Orphanet:551"	"Orphanet:551"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7494"	"MT-TP"	"Orphanet:551"	"MERRF"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"19273760, 27816331"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MT-TP_Orphanet:551_HP:0001427"	"2025-03-06"
"GENCC_000110-HGNC_7490-Orphanet_551-HP_0001427-GENCC_100009"	"HGNC:7490"	"MT-TL1"	"MONDO:0010790"	"MERRF syndrome"	"Orphanet:551"	"Orphanet:551"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7490"	"MT-TL1"	"Orphanet:551"	"MERRF"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"8254046"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MT-TL1_Orphanet:551_HP:0001427"	"2025-03-06"
"GENCC_000110-HGNC_7487-Orphanet_551-HP_0001427-GENCC_100009"	"HGNC:7487"	"MT-TH"	"MONDO:0010790"	"MERRF syndrome"	"Orphanet:551"	"Orphanet:551"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7487"	"MT-TH"	"Orphanet:551"	"MERRF"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"14967777"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MT-TH_Orphanet:551_HP:0001427"	"2025-03-06"
"GENCC_000110-HGNC_7481-Orphanet_551-HP_0001427-GENCC_100009"	"HGNC:7481"	"MT-TF"	"MONDO:0010790"	"MERRF syndrome"	"Orphanet:551"	"Orphanet:551"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7481"	"MT-TF"	"Orphanet:551"	"MERRF"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"15184630"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MT-TF_Orphanet:551_HP:0001427"	"2025-03-06"
"GENCC_000110-HGNC_7489-Orphanet_551-HP_0001427-GENCC_100009"	"HGNC:7489"	"MT-TK"	"MONDO:0010790"	"MERRF syndrome"	"Orphanet:551"	"Orphanet:551"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7489"	"MT-TK"	"Orphanet:551"	"MERRF"	"HP:0001427"	"Mitochondrial Inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"20301693"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MT-TK_Orphanet:551_HP:0001427"	"2025-03-06"
"GENCC_000110-HGNC_1582-Orphanet_892-HP_0000006-GENCC_100009"	"HGNC:1582"	"CCND1"	"MONDO:0008667"	"von Hippel-Lindau disease"	"Orphanet:892"	"Orphanet:892"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:1582"	"CCND1"	"Orphanet:892"	"Von Hippel-Lindau disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"12097293"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_CCND1_Orphanet:892_HP:0000006"	"2025-03-06"
"GENCC_000110-HGNC_11007-Orphanet_399-HP_0000006-GENCC_100009"	"HGNC:11007"	"SLC2A3"	"MONDO:0007739"	"Huntington disease"	"Orphanet:399"	"Orphanet:399"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:11007"	"SLC2A3"	"Orphanet:399"	"Huntington disease"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"24452335"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_SLC2A3_Orphanet:399_HP:0000006"	"2025-03-06"
"GENCC_000110-HGNC_11896-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:11896"	"TNFAIP3"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11896"	"TNFAIP3"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23943494"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_TNFAIP3_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_30071-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:30071"	"KIAA0319L"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:30071"	"KIAA0319L"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23740937"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_KIAA0319L_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_11934-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:11934"	"TNFSF4"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11934"	"TNFSF4"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"24091983"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_TNFSF4_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_1323-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:1323"	"C4A"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:1323"	"C4A"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"22654485"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_C4A_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_3618-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:3618"	"FCGR2B"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:3618"	"FCGR2B"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23943494"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_FCGR2B_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_28917-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:28917"	"JAZF1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:28917"	"JAZF1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"19838195"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_JAZF1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_2956-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:2956"	"DNASE1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:2956"	"DNASE1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"11479590"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_DNASE1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_4948-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:4948"	"HLA-DRB1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:4948"	"HLA-DRB1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"22654485"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_HLA-DRB1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_6990-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:6990"	"MECP2"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:6990"	"MECP2"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23857988"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MECP2_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_15631-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:15631"	"TLR7"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:15631"	"TLR7"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"35477763"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_TLR7_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_5525-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:5525"	"IGHG1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:5525"	"IGHG1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"30287618"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_IGHG1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_1057-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:1057"	"BLK"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:1057"	"BLK"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"22696686"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_BLK_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_3488-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:3488"	"ETS1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:3488"	"ETS1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23236436"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_ETS1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_2505-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:2505"	"CTLA4"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:2505"	"CTLA4"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23922195"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_CTLA4_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_23326-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:23326"	"PXK"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:23326"	"PXK"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"22592861"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_PXK_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_12488-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:12488"	"UBE2L3"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:12488"	"UBE2L3"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23917156"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_UBE2L3_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_6120-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:6120"	"IRF5"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:6120"	"IRF5"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"15657875"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_IRF5_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_12269-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:12269"	"TREX1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:12269"	"TREX1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"17660818"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_TREX1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_18233-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:18233"	"BANK1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:18233"	"BANK1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"22039224"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_BANK1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_5962-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:5962"	"IL10"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:5962"	"IL10"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23936042"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_IL10_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_16903-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:16903"	"TNIP1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:16903"	"TNIP1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23917156"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_TNIP1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_8760-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:8760"	"PDCD1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:8760"	"PDCD1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"12402038"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_PDCD1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_2336-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:2336"	"CR2"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:2336"	"CR2"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"17360460"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_CR2_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_11255-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:11255"	"SPP1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11255"	"SPP1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"19440199"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_SPP1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_6112-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:6112"	"IRAK1"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:6112"	"IRAK1"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23435933"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_IRAK1_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_6149-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:6149"	"ITGAM"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:6149"	"ITGAM"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"19286673"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_ITGAM_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_11365-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:11365"	"STAT4"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:11365"	"STAT4"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"17804842"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_STAT4_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_3620-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:3620"	"FCGR3B"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:3620"	"FCGR3B"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23917156"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_FCGR3B_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_9652-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:9652"	"PTPN22"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:9652"	"PTPN22"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"15273934"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_PTPN22_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_1324-Orphanet_536-HP_0000005-GENCC_100009"	"HGNC:1324"	"C4B"	"MONDO:0007915"	"systemic lupus erythematosus"	"Orphanet:536"	"Orphanet:536"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:1324"	"C4B"	"Orphanet:536"	"Systemic lupus erythematosus"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"3265961"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_C4B_Orphanet:536_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_10449-Orphanet_567-HP_0000006-GENCC_100009"	"HGNC:10449"	"RREB1"	"MONDO:0018923"	"22q11.2 deletion syndrome"	"Orphanet:567"	"Orphanet:567"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10449"	"RREB1"	"Orphanet:567"	"22q11.2 deletion syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"26608785"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_RREB1_Orphanet:567_HP:0000006"	"2025-03-06"
"GENCC_000110-HGNC_12313-Orphanet_567-HP_0000006-GENCC_100009"	"HGNC:12313"	"JMJD1C"	"MONDO:0018923"	"22q11.2 deletion syndrome"	"Orphanet:567"	"Orphanet:567"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12313"	"JMJD1C"	"Orphanet:567"	"22q11.2 deletion syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"26608785"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_JMJD1C_Orphanet:567_HP:0000006"	"2025-03-06"
"GENCC_000110-HGNC_10705-Orphanet_567-HP_0000006-GENCC_100009"	"HGNC:10705"	"SEC24C"	"MONDO:0018923"	"22q11.2 deletion syndrome"	"Orphanet:567"	"Orphanet:567"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:10705"	"SEC24C"	"Orphanet:567"	"22q11.2 deletion syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"26608785"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_SEC24C_Orphanet:567_HP:0000006"	"2025-03-06"
"GENCC_000110-HGNC_6973-Orphanet_524-HP_0000006-GENCC_100009"	"HGNC:6973"	"MDM2"	"MONDO:0018875"	"Li-Fraumeni syndrome"	"Orphanet:524"	"Orphanet:524"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:6973"	"MDM2"	"Orphanet:524"	"Li-Fraumeni syndrome"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"23884452"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MDM2_Orphanet:524_HP:0000006"	"2025-03-06"
"GENCC_000110-HGNC_12442-Orphanet_895-HP_0000006-GENCC_100009"	"HGNC:12442"	"TYR"	"MONDO:0019517"	"Waardenburg syndrome type 2"	"Orphanet:895"	"Orphanet:895"	"GENCC:100009"	"Supportive"	"HP:0000006"	"Autosomal dominant"	"GENCC:000110"	"Orphanet"	"HGNC:12442"	"TYR"	"Orphanet:895"	"Waardenburg syndrome type 2"	"HP:0000006"	"Autosomal dominant inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"9158138"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_TYR_Orphanet:895_HP:0000006"	"2025-03-06"
"GENCC_000110-HGNC_4392-Orphanet_562-HP_0000005-GENCC_100009"	"HGNC:4392"	"GNAS"	"MONDO:0018919"	"McCune-Albright syndrome"	"Orphanet:562"	"Orphanet:562"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:4392"	"GNAS"	"Orphanet:562"	"McCune-Albright syndrome"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"1594625"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_GNAS_Orphanet:562_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_29110-Orphanet_474-HP_0000007-GENCC_100009"	"HGNC:29110"	"KIAA0753"	"MONDO:0018770"	"Jeune syndrome"	"Orphanet:474"	"Orphanet:474"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:29110"	"KIAA0753"	"Orphanet:474"	"Jeune syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"29138412"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_KIAA0753_Orphanet:474_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_9381-Orphanet_289-HP_0000007-GENCC_100009"	"HGNC:9381"	"PRKACB"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"Orphanet:289"	"Orphanet:289"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9381"	"PRKACB"	"Orphanet:289"	"Ellis Van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"33058759"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_PRKACB_Orphanet:289_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_9380-Orphanet_289-HP_0000007-GENCC_100009"	"HGNC:9380"	"PRKACA"	"MONDO:0009162"	"Ellis-van Creveld syndrome"	"Orphanet:289"	"Orphanet:289"	"GENCC:100009"	"Supportive"	"HP:0000007"	"Autosomal recessive"	"GENCC:000110"	"Orphanet"	"HGNC:9380"	"PRKACA"	"Orphanet:289"	"Ellis Van Creveld syndrome"	"HP:0000007"	"Autosomal recessive inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"33058759"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_PRKACA_Orphanet:289_HP:0000007"	"2025-03-06"
"GENCC_000110-HGNC_7489-Orphanet_1349-HP_0001427-GENCC_100009"	"HGNC:7489"	"MT-TK"	"MONDO:0015283"	"maternally-inherited cardiomyopathy and hearing loss"	"Orphanet:1349"	"Orphanet:1349"	"GENCC:100009"	"Supportive"	"HP:0001427"	"Mitochondrial"	"GENCC:000110"	"Orphanet"	"HGNC:7489"	"MT-TK"	"Orphanet:1349"	"Mitochondrial DNA-related cardiomyopathy and hearing loss"	"HP:0001427"	"X-linked inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"8651277"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_MT-TK_Orphanet:1349_HP:0001427"	"2025-03-06"
"GENCC_000110-HGNC_358-Orphanet_963-HP_0000005-GENCC_100009"	"HGNC:358"	"AIP"	"MONDO:0019933"	"acromegaly"	"Orphanet:963"	"Orphanet:963"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:358"	"AIP"	"Orphanet:963"	"Acromegaly"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"20530095"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_AIP_Orphanet:963_HP:0000005"	"2025-03-06"
"GENCC_000110-HGNC_14963-Orphanet_963-HP_0000005-GENCC_100009"	"HGNC:14963"	"GPR101"	"MONDO:0019933"	"acromegaly"	"Orphanet:963"	"Orphanet:963"	"GENCC:100009"	"Supportive"	"HP:0000005"	"Unknown"	"GENCC:000110"	"Orphanet"	"HGNC:14963"	"GPR101"	"Orphanet:963"	"Acromegaly"	"HP:0000005"	"Unknown inheritance"	"GENCC:000110"	"Orphanet"	"GENCC:100009"	"Supportive"	"2025-03-06 00:00:00"	""	""	"25470569"	"https://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_Genes_inventory_R1_Ann_gen_EP_02.pdf"	"GENCC_000110_GPR101_Orphanet:963_HP:0000005"	"2025-03-06"